Podcast
Questions and Answers
What is the most common type of functional adenoma of the anterior pituitary?
What is the most common type of functional adenoma of the anterior pituitary?
Which condition in females is most commonly associated with hyperprolactinemia?
Which condition in females is most commonly associated with hyperprolactinemia?
What size classification differentiates microadenomas from macroadenomas?
What size classification differentiates microadenomas from macroadenomas?
Which hormone associated with the anterior pituitary suppresses FSH and LH secretion?
Which hormone associated with the anterior pituitary suppresses FSH and LH secretion?
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What is the typical clinical presentation of hyperprolactinemia in males?
What is the typical clinical presentation of hyperprolactinemia in males?
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What hormone is primarily responsible for stimulating the production of testosterone in males?
What hormone is primarily responsible for stimulating the production of testosterone in males?
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Which condition is characterized by excessive growth hormone before the epiphyses of the bones have fused?
Which condition is characterized by excessive growth hormone before the epiphyses of the bones have fused?
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What is the most common cause of death in individuals with excessive growth hormone?
What is the most common cause of death in individuals with excessive growth hormone?
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What is the effect of bromocriptine treatment?
What is the effect of bromocriptine treatment?
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What happens to the bones in acromegaly?
What happens to the bones in acromegaly?
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What can cause excessive water retention in patients?
What can cause excessive water retention in patients?
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Which option is NOT a symptom associated with hyperthyroidism?
Which option is NOT a symptom associated with hyperthyroidism?
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What is the primary treatment method for pituitary dwarfism?
What is the primary treatment method for pituitary dwarfism?
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Which of the following is a potential cause of diabetes insipidus?
Which of the following is a potential cause of diabetes insipidus?
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Which condition is characterized by a deficiency of growth hormone from birth?
Which condition is characterized by a deficiency of growth hormone from birth?
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Most hypersecretions of the anterior pituitary are caused by microadenomas.
Most hypersecretions of the anterior pituitary are caused by microadenomas.
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In males, hyperprolactinemia typically presents as a microadenoma.
In males, hyperprolactinemia typically presents as a microadenoma.
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Galactorrhea is a common clinical presentation of hyperprolactinemia in females.
Galactorrhea is a common clinical presentation of hyperprolactinemia in females.
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Oxytocin is primarily responsible for producing milk in females.
Oxytocin is primarily responsible for producing milk in females.
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Macroadenomas do not secrete hormones but can cause tissue compression.
Macroadenomas do not secrete hormones but can cause tissue compression.
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Match the types of adenomas with their descriptions:
Match the types of adenomas with their descriptions:
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Match the clinical presentations with the corresponding gender for hyperprolactinemia:
Match the clinical presentations with the corresponding gender for hyperprolactinemia:
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Match the hormones with their primary functions:
Match the hormones with their primary functions:
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Match the terms with their definitions:
Match the terms with their definitions:
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Match the descriptions of macroadenomas and microadenomas:
Match the descriptions of macroadenomas and microadenomas:
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What is the primary cause of Nelson's syndrome?
What is the primary cause of Nelson's syndrome?
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Which of the following is a common characteristic of pheochromocytoma?
Which of the following is a common characteristic of pheochromocytoma?
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What is the third most common malignancy in children?
What is the third most common malignancy in children?
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Which syndrome is associated with tumors of the thyroid, parathyroid, and adrenal medulla?
Which syndrome is associated with tumors of the thyroid, parathyroid, and adrenal medulla?
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What is a common outcome of Waterhouse-Friderichsen syndrome?
What is a common outcome of Waterhouse-Friderichsen syndrome?
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What is a common cause of secondary hyperparathyroidism?
What is a common cause of secondary hyperparathyroidism?
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Which of the following is associated with hypoparathyroidism?
Which of the following is associated with hypoparathyroidism?
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What effect is commonly observed in primary hyperparathyroidism?
What effect is commonly observed in primary hyperparathyroidism?
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Which sign is indicative of hypocalcemia in hypoparathyroidism?
Which sign is indicative of hypocalcemia in hypoparathyroidism?
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What marks the distinction of pseudohypoparathyroidism?
What marks the distinction of pseudohypoparathyroidism?
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What is a consequence of secondary hyperparathyroidism due to low vitamin D?
What is a consequence of secondary hyperparathyroidism due to low vitamin D?
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What is a characterizing symptom of Albright's hereditary osteodystrophy?
What is a characterizing symptom of Albright's hereditary osteodystrophy?
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What is the primary enzyme deficiency related to adrenogenital syndrome?
What is the primary enzyme deficiency related to adrenogenital syndrome?
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Which condition is characterized by high PTH levels but signs of hypoparathyroidism?
Which condition is characterized by high PTH levels but signs of hypoparathyroidism?
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Which effect is NOT associated with secondary hyperparathyroidism?
Which effect is NOT associated with secondary hyperparathyroidism?
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Waterhouse-Friderichsen syndrome is usually non-fatal.
Waterhouse-Friderichsen syndrome is usually non-fatal.
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Pheochromocytoma is a neoplasm of chromaffin cells that produces catecholamines.
Pheochromocytoma is a neoplasm of chromaffin cells that produces catecholamines.
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Nelson's syndrome occurs after the removal of the adrenals to treat Cushing's disease.
Nelson's syndrome occurs after the removal of the adrenals to treat Cushing's disease.
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Neuroblastoma is the most common malignancy in children.
Neuroblastoma is the most common malignancy in children.
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Tumors involved in Multiple Endocrine Neoplasia type I include the pancreas, producing excess insulin.
Tumors involved in Multiple Endocrine Neoplasia type I include the pancreas, producing excess insulin.
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Match the following adrenal diseases with their descriptions:
Match the following adrenal diseases with their descriptions:
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Match the types of Multiple Endocrine Neoplasia (MEN) syndromes with their features:
Match the types of Multiple Endocrine Neoplasia (MEN) syndromes with their features:
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Match the following symptoms with their associated conditions:
Match the following symptoms with their associated conditions:
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Match the following tumors with their characteristics:
Match the following tumors with their characteristics:
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Match the adrenal disease with its associated complication:
Match the adrenal disease with its associated complication:
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What is a primary characteristic of Type I diabetes mellitus?
What is a primary characteristic of Type I diabetes mellitus?
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Which of the following diagnoses indicates diabetes mellitus?
Which of the following diagnoses indicates diabetes mellitus?
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Which type of diabetes is most commonly seen due to obesity?
Which type of diabetes is most commonly seen due to obesity?
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What distinguishes gestational diabetes mellitus from other types of diabetes?
What distinguishes gestational diabetes mellitus from other types of diabetes?
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Which component is NOT typical in the diagnosis of diabetes mellitus?
Which component is NOT typical in the diagnosis of diabetes mellitus?
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What is the most common cause of death in a diabetic person?
What is the most common cause of death in a diabetic person?
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Which condition is least likely to be associated with diabetic ketoacidosis?
Which condition is least likely to be associated with diabetic ketoacidosis?
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What is the primary characteristic of a Grade 1 sprain?
What is the primary characteristic of a Grade 1 sprain?
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In Type I Diabetes Mellitus, what is primarily indicated by the presence of autoantibodies?
In Type I Diabetes Mellitus, what is primarily indicated by the presence of autoantibodies?
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What is a possible event that could lead to avascular necrosis of the femoral head?
What is a possible event that could lead to avascular necrosis of the femoral head?
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Which of the following is a symptom associated with both Type I and Type II Diabetes Mellitus?
Which of the following is a symptom associated with both Type I and Type II Diabetes Mellitus?
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What is the typical cause of meniscus injuries in the knee?
What is the typical cause of meniscus injuries in the knee?
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What distinguishes hyperosmolar non-ketotic coma from diabetic ketoacidosis?
What distinguishes hyperosmolar non-ketotic coma from diabetic ketoacidosis?
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Which statement accurately describes the pathogenesis of Type II Diabetes Mellitus?
Which statement accurately describes the pathogenesis of Type II Diabetes Mellitus?
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What is the most common location for shoulder dislocations?
What is the most common location for shoulder dislocations?
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Alpha cells of the pancreas produce insulin and beta cells produce glucagon.
Alpha cells of the pancreas produce insulin and beta cells produce glucagon.
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Diabetes mellitus can be diagnosed through a fasting glucose exam by determining if the level is above 125.
Diabetes mellitus can be diagnosed through a fasting glucose exam by determining if the level is above 125.
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Type II diabetes is primarily characterized by the total lack of insulin production in the body.
Type II diabetes is primarily characterized by the total lack of insulin production in the body.
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Gestational diabetes mellitus occurs in non-pregnant women experiencing hyperglycemia.
Gestational diabetes mellitus occurs in non-pregnant women experiencing hyperglycemia.
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The most common type of diabetes is Type I, also known as juvenile-onset diabetes.
The most common type of diabetes is Type I, also known as juvenile-onset diabetes.
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Match the pancreatic cells with their respective hormone production:
Match the pancreatic cells with their respective hormone production:
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Match the types of diabetes mellitus with their characteristics:
Match the types of diabetes mellitus with their characteristics:
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Match the test results with their diabetes mellitus classifications:
Match the test results with their diabetes mellitus classifications:
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Match the type of diabetes mellitus with its previous name:
Match the type of diabetes mellitus with its previous name:
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Match the term with its definition regarding diabetes:
Match the term with its definition regarding diabetes:
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What type of benign bone tumor is most commonly found in flat bones, such as the skull?
What type of benign bone tumor is most commonly found in flat bones, such as the skull?
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Which of the following tumors secretes prostaglandins and causes increased pain with alcohol consumption?
Which of the following tumors secretes prostaglandins and causes increased pain with alcohol consumption?
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Which type of tumor is classified as the most common primary malignant bone tumor?
Which type of tumor is classified as the most common primary malignant bone tumor?
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Which of the following conditions is associated with multiple enchondromas and a risk of malignancy?
Which of the following conditions is associated with multiple enchondromas and a risk of malignancy?
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Where are osteochondromas most commonly located?
Where are osteochondromas most commonly located?
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What is the most common primary malignant tumor found in the bone marrow?
What is the most common primary malignant tumor found in the bone marrow?
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Which genetic disease is also known as 'brittle bone disease'?
Which genetic disease is also known as 'brittle bone disease'?
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What characterizes Ewing's sarcoma radiologically?
What characterizes Ewing's sarcoma radiologically?
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Which type of bone metastasis is primarily associated with the prostate?
Which type of bone metastasis is primarily associated with the prostate?
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Cleidocranial dysplasia is characterized by the absence of which bones?
Cleidocranial dysplasia is characterized by the absence of which bones?
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What type of genetic defect does osteopetrosis involve?
What type of genetic defect does osteopetrosis involve?
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Which feature is commonly seen in multiple myeloma?
Which feature is commonly seen in multiple myeloma?
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Which genetic disorder leads to unstable crosslinks between elastin fibers?
Which genetic disorder leads to unstable crosslinks between elastin fibers?
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Which type of tumor is most commonly found in the bone as a result of metastasis?
Which type of tumor is most commonly found in the bone as a result of metastasis?
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What is a common clinical manifestation of osteogenesis imperfecta?
What is a common clinical manifestation of osteogenesis imperfecta?
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Osteochondroma is classified as the most common primary malignant bone tumor.
Osteochondroma is classified as the most common primary malignant bone tumor.
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Chondrosarcoma is classified as the second most common primary tumor overall.
Chondrosarcoma is classified as the second most common primary tumor overall.
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The pain from an osteoid osteoma is decreased by alcohol use.
The pain from an osteoid osteoma is decreased by alcohol use.
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Osteosarcoma most often occurs in the areas around the elbow joint.
Osteosarcoma most often occurs in the areas around the elbow joint.
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Chondroblastoma is commonly found in the upper femur, tibia, and humerus.
Chondroblastoma is commonly found in the upper femur, tibia, and humerus.
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Match the benign bone-forming tumors with their characteristics:
Match the benign bone-forming tumors with their characteristics:
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Match the bone and cartilage-forming tumors with their primary sites:
Match the bone and cartilage-forming tumors with their primary sites:
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Match the benign cartilage-forming tumors with their definitions:
Match the benign cartilage-forming tumors with their definitions:
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Match the following tumors with their characteristics:
Match the following tumors with their characteristics:
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Match the tumor types with their classification:
Match the tumor types with their classification:
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What characterizes Still disease?
What characterizes Still disease?
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Which type of muscle atrophy occurs due to disuse and glucocorticoid use?
Which type of muscle atrophy occurs due to disuse and glucocorticoid use?
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What is a primary cause of secondary gout?
What is a primary cause of secondary gout?
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Which condition is characterized by antibodies destroying acetylcholine receptor sites?
Which condition is characterized by antibodies destroying acetylcholine receptor sites?
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What antigen is associated with approximately 80% of reactive arthritis cases?
What antigen is associated with approximately 80% of reactive arthritis cases?
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Which of the following muscle disorders is associated with neurogenic causes?
Which of the following muscle disorders is associated with neurogenic causes?
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Which symptom is NOT associated with myasthenia gravis?
Which symptom is NOT associated with myasthenia gravis?
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Which statement is true about Paget disease?
Which statement is true about Paget disease?
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What is a significant characteristic of fibrous dysplasia?
What is a significant characteristic of fibrous dysplasia?
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Which joint disease is characterized by a bacterial infection producing pus?
Which joint disease is characterized by a bacterial infection producing pus?
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How is scoliosis most commonly classified?
How is scoliosis most commonly classified?
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Legg-Calve-Perthes disease is primarily defined as what?
Legg-Calve-Perthes disease is primarily defined as what?
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Which condition is associated with a high female to male ratio in occurrence?
Which condition is associated with a high female to male ratio in occurrence?
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Which statement about McCune-Albright Syndrome is correct?
Which statement about McCune-Albright Syndrome is correct?
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What characterizes Slipped femoral epiphysis?
What characterizes Slipped femoral epiphysis?
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Paget disease results in smaller bone than normal.
Paget disease results in smaller bone than normal.
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Fibrous dysplasia is defined as the replacement of bone by cellular connective tissues, which are then replaced by increased cancellous bone.
Fibrous dysplasia is defined as the replacement of bone by cellular connective tissues, which are then replaced by increased cancellous bone.
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Legg-Calve-Perthes disease is a form of osteonecrosis that affects the proximal femoral epiphysis and is typically bilateral.
Legg-Calve-Perthes disease is a form of osteonecrosis that affects the proximal femoral epiphysis and is typically bilateral.
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Scoliosis is more common in males with a ratio of 8:1 compared to females.
Scoliosis is more common in males with a ratio of 8:1 compared to females.
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Rheumatoid arthritis is characterized by a pannus formation with radial deviation of fingers.
Rheumatoid arthritis is characterized by a pannus formation with radial deviation of fingers.
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Match the following bone diseases with their characteristics:
Match the following bone diseases with their characteristics:
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Match the following pediatric bone diseases with their definitions:
Match the following pediatric bone diseases with their definitions:
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Match the following joint diseases with their descriptions:
Match the following joint diseases with their descriptions:
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Match the following types of scoliosis with their causes:
Match the following types of scoliosis with their causes:
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Match the following features of clubfoot with their types:
Match the following features of clubfoot with their types:
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Study Notes
Diseases of the Anterior Pituitary Gland
- Master gland regulation primarily by the hypothalamus.
- Anterior pituitary known as adenohypophysis; posterior as neurohypophysis.
- Most hypersecretions arise from adenomas, categorized as microadenomas (< 10mm, typically functional) or macroadenomas (> 10mm, usually non-functional).
- Treatment for adenomas involves surgical removal and potential hormone replacement therapy (HRT).
Hyperprolactinemia
- Most prevalent functional adenoma; high prolactin levels.
- In females, often manifests as microadenoma causing galactorrhea, amenorrhea, and infertility.
- In males, typically presents as macroadenoma resulting in decreased libido, impotency, sterility, and gynecomastia.
- Hormones involved: Prolactin (milk production, inhibits FSH & LH), Oxytocin (milk secretion), FSH and LH (regulate reproductive functions).
- Treatment includes bromocriptine to lower prolactin via dopamine-like effects.
Excessive Growth Hormone
- Characterized by decreased GHRH and increased somatotropin.
- Second most common pituitary adenoma, with heart disease as a leading cause of death.
- Gigantism occurs pre-epiphyseal fusion, with symptoms including organomegaly and spade-like hands.
- Acromegaly occurs post-epiphyseal fusion, leads to bone width growth, cardiomegaly, and prognathism.
Cushing Disease
- Decreased CRH leading to increased ACTH and cortisol levels.
- Commonly results from pituitary adenoma; significantly more prevalent in males (10:1 ratio).
- Causes bilateral adrenal hyperplasia and may elevate MSH.
Hyposecretion
Simmonds's Disease
- Results in panhypopituitarism (global decrease in anterior pituitary hormones).
- Causes include Sheehan's syndrome (post-partum necrosis), non-functional tumors, and infiltrative diseases.
Pituitary Dwarfism
- Isolated growth hormone deficiency, often congenital.
- Growth hormone injections during puberty can aid treatment.
Diseases of the Posterior Pituitary Gland
Excessive ADH Secretion
- Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) may result from CNS diseases, ectopic production, or drug use.
- Leads to excessive water retention and hyponatremia.
Insufficient ADH Secretion
- Diabetes insipidus arises from idiopathic causes or head injuries.
- Symptoms include polyuria, excessive thirst (polydipsia), but not increased hunger (polyphagia).
Diseases of the Thyroid Gland
Goiter
- Can present as diffuse (smooth) or focal (nodular).
- Potentially compresses trachea, esophagus, or recurrent laryngeal nerve.
Hyperthyroidism
- Grave's disease involves decreased TRH and TSH but increased T3/T4 due to autoimmune activity (Type II hypersensitivity).
- Primarily affects females (7:1 to 10:1 ratio).
- Features: elevated BMR, sweating, heat intolerance, weight loss, exophthalmos, tachycardia, and characteristic lid lag.
Granulomatous Thyroiditis (De Quervian thyroiditis)
- Viral origin can cause transient hyperthyroidism; condition typically resolves without intervention.
Hypothyroidism
Cretinism
- Hypothyroidism in childhood linked to iodine deficiency or maternal goiter, leading to developmental delays and physical abnormalities.
Myxedema
- Adult hypothyroidism most commonly attributed to Hashimoto's thyroiditis (Type IV hypersensitivity).
- Symptoms include decreased BMR, cold intolerance, weight gain, and potential depression.
Riedel Thyroiditis
- Presents as chronic non-caseous granulomas causing thyroid gland fibrosis ("Woody thyroid").
Thyroid Neoplasms
Follicular Adenoma
- Benign, most common thyroid neoplasm, occurring more frequently in females, presents as "cold" nodules.
Thyroid Carcinoma
- Includes different types:
- Papillary Carcinoma: Most common, slow-growing, often with lymph node involvement, featuring psammoma bodies.
- Follicular Carcinoma: Second most common, follicular epithelial origin.
- Anaplastic Carcinoma: More prevalent in females over 50, aggressive malignancy.
Diseases of the Anterior Pituitary Gland
- Master gland regulation primarily by the hypothalamus.
- Anterior pituitary known as adenohypophysis; posterior as neurohypophysis.
- Most hypersecretions arise from adenomas, categorized as microadenomas (< 10mm, typically functional) or macroadenomas (> 10mm, usually non-functional).
- Treatment for adenomas involves surgical removal and potential hormone replacement therapy (HRT).
Hyperprolactinemia
- Most prevalent functional adenoma; high prolactin levels.
- In females, often manifests as microadenoma causing galactorrhea, amenorrhea, and infertility.
- In males, typically presents as macroadenoma resulting in decreased libido, impotency, sterility, and gynecomastia.
- Hormones involved: Prolactin (milk production, inhibits FSH & LH), Oxytocin (milk secretion), FSH and LH (regulate reproductive functions).
- Treatment includes bromocriptine to lower prolactin via dopamine-like effects.
Excessive Growth Hormone
- Characterized by decreased GHRH and increased somatotropin.
- Second most common pituitary adenoma, with heart disease as a leading cause of death.
- Gigantism occurs pre-epiphyseal fusion, with symptoms including organomegaly and spade-like hands.
- Acromegaly occurs post-epiphyseal fusion, leads to bone width growth, cardiomegaly, and prognathism.
Cushing Disease
- Decreased CRH leading to increased ACTH and cortisol levels.
- Commonly results from pituitary adenoma; significantly more prevalent in males (10:1 ratio).
- Causes bilateral adrenal hyperplasia and may elevate MSH.
Hyposecretion
Simmonds's Disease
- Results in panhypopituitarism (global decrease in anterior pituitary hormones).
- Causes include Sheehan's syndrome (post-partum necrosis), non-functional tumors, and infiltrative diseases.
Pituitary Dwarfism
- Isolated growth hormone deficiency, often congenital.
- Growth hormone injections during puberty can aid treatment.
Diseases of the Posterior Pituitary Gland
Excessive ADH Secretion
- Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) may result from CNS diseases, ectopic production, or drug use.
- Leads to excessive water retention and hyponatremia.
Insufficient ADH Secretion
- Diabetes insipidus arises from idiopathic causes or head injuries.
- Symptoms include polyuria, excessive thirst (polydipsia), but not increased hunger (polyphagia).
Diseases of the Thyroid Gland
Goiter
- Can present as diffuse (smooth) or focal (nodular).
- Potentially compresses trachea, esophagus, or recurrent laryngeal nerve.
Hyperthyroidism
- Grave's disease involves decreased TRH and TSH but increased T3/T4 due to autoimmune activity (Type II hypersensitivity).
- Primarily affects females (7:1 to 10:1 ratio).
- Features: elevated BMR, sweating, heat intolerance, weight loss, exophthalmos, tachycardia, and characteristic lid lag.
Granulomatous Thyroiditis (De Quervian thyroiditis)
- Viral origin can cause transient hyperthyroidism; condition typically resolves without intervention.
Hypothyroidism
Cretinism
- Hypothyroidism in childhood linked to iodine deficiency or maternal goiter, leading to developmental delays and physical abnormalities.
Myxedema
- Adult hypothyroidism most commonly attributed to Hashimoto's thyroiditis (Type IV hypersensitivity).
- Symptoms include decreased BMR, cold intolerance, weight gain, and potential depression.
Riedel Thyroiditis
- Presents as chronic non-caseous granulomas causing thyroid gland fibrosis ("Woody thyroid").
Thyroid Neoplasms
Follicular Adenoma
- Benign, most common thyroid neoplasm, occurring more frequently in females, presents as "cold" nodules.
Thyroid Carcinoma
- Includes different types:
- Papillary Carcinoma: Most common, slow-growing, often with lymph node involvement, featuring psammoma bodies.
- Follicular Carcinoma: Second most common, follicular epithelial origin.
- Anaplastic Carcinoma: More prevalent in females over 50, aggressive malignancy.
Diseases of the Anterior Pituitary Gland
- Master gland regulation primarily by the hypothalamus.
- Anterior pituitary known as adenohypophysis; posterior as neurohypophysis.
- Most hypersecretions arise from adenomas, categorized as microadenomas (< 10mm, typically functional) or macroadenomas (> 10mm, usually non-functional).
- Treatment for adenomas involves surgical removal and potential hormone replacement therapy (HRT).
Hyperprolactinemia
- Most prevalent functional adenoma; high prolactin levels.
- In females, often manifests as microadenoma causing galactorrhea, amenorrhea, and infertility.
- In males, typically presents as macroadenoma resulting in decreased libido, impotency, sterility, and gynecomastia.
- Hormones involved: Prolactin (milk production, inhibits FSH & LH), Oxytocin (milk secretion), FSH and LH (regulate reproductive functions).
- Treatment includes bromocriptine to lower prolactin via dopamine-like effects.
Excessive Growth Hormone
- Characterized by decreased GHRH and increased somatotropin.
- Second most common pituitary adenoma, with heart disease as a leading cause of death.
- Gigantism occurs pre-epiphyseal fusion, with symptoms including organomegaly and spade-like hands.
- Acromegaly occurs post-epiphyseal fusion, leads to bone width growth, cardiomegaly, and prognathism.
Cushing Disease
- Decreased CRH leading to increased ACTH and cortisol levels.
- Commonly results from pituitary adenoma; significantly more prevalent in males (10:1 ratio).
- Causes bilateral adrenal hyperplasia and may elevate MSH.
Hyposecretion
Simmonds's Disease
- Results in panhypopituitarism (global decrease in anterior pituitary hormones).
- Causes include Sheehan's syndrome (post-partum necrosis), non-functional tumors, and infiltrative diseases.
Pituitary Dwarfism
- Isolated growth hormone deficiency, often congenital.
- Growth hormone injections during puberty can aid treatment.
Diseases of the Posterior Pituitary Gland
Excessive ADH Secretion
- Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) may result from CNS diseases, ectopic production, or drug use.
- Leads to excessive water retention and hyponatremia.
Insufficient ADH Secretion
- Diabetes insipidus arises from idiopathic causes or head injuries.
- Symptoms include polyuria, excessive thirst (polydipsia), but not increased hunger (polyphagia).
Diseases of the Thyroid Gland
Goiter
- Can present as diffuse (smooth) or focal (nodular).
- Potentially compresses trachea, esophagus, or recurrent laryngeal nerve.
Hyperthyroidism
- Grave's disease involves decreased TRH and TSH but increased T3/T4 due to autoimmune activity (Type II hypersensitivity).
- Primarily affects females (7:1 to 10:1 ratio).
- Features: elevated BMR, sweating, heat intolerance, weight loss, exophthalmos, tachycardia, and characteristic lid lag.
Granulomatous Thyroiditis (De Quervian thyroiditis)
- Viral origin can cause transient hyperthyroidism; condition typically resolves without intervention.
Hypothyroidism
Cretinism
- Hypothyroidism in childhood linked to iodine deficiency or maternal goiter, leading to developmental delays and physical abnormalities.
Myxedema
- Adult hypothyroidism most commonly attributed to Hashimoto's thyroiditis (Type IV hypersensitivity).
- Symptoms include decreased BMR, cold intolerance, weight gain, and potential depression.
Riedel Thyroiditis
- Presents as chronic non-caseous granulomas causing thyroid gland fibrosis ("Woody thyroid").
Thyroid Neoplasms
Follicular Adenoma
- Benign, most common thyroid neoplasm, occurring more frequently in females, presents as "cold" nodules.
Thyroid Carcinoma
- Includes different types:
- Papillary Carcinoma: Most common, slow-growing, often with lymph node involvement, featuring psammoma bodies.
- Follicular Carcinoma: Second most common, follicular epithelial origin.
- Anaplastic Carcinoma: More prevalent in females over 50, aggressive malignancy.
Adrenal Disorders
- Nelson's Syndrome: Results from adrenal removal to treat Cushing's syndrome when Cushing's disease is actually present.
- Waterhouse-Friderichsen Syndrome: Characterized by bilateral adrenal hemorrhaging associated with septicemia, often linked to meningococcal meningitis, and is usually fatal.
Diseases of the Adrenal Medulla
- Pheochromocytoma: Neoplasm of chromaffin cells producing catecholamines, leading to severe hypertension (e.g., blood pressure of 200/120). Urinary vanillylmandelic acid (VMA) levels are elevated.
- Ganglioneuroma: A benign tumor originating from neural crest cells.
- Neuroblastoma: The third most common malignancy in children, capable of metastasizing to the eyes, liver, and bone marrow.
Multiple Endocrine Neoplasia (MEN) Syndromes
-
MEN Type I (Wermer Syndrome):
- Autosomal dominant, chromosome #11.
- Include parathyroid tumors (hypercalcemia), pancreatic tumors (excess insulin, Zollinger-Ellison syndrome), and pituitary tumors (hyperprolactinemia).
-
MEN Type IIa (Sipple Syndrome):
- Features thyroid tumors (medullary carcinoma with excess calcitonin), parathyroid tumors (hypercalcemia), and adrenal medulla tumors (pheochromocytoma).
-
MEN Type IIb (William Syndrome):
- Involves tumors of the thyroid, adrenal medulla, and extra-endocrine ganglioneuromas.
Parathyroid Gland Disorders
-
Hyperparathyroidism:
- Primary Hyperparathyroidism: Caused by primary adenoma; characterized by increased PTH and hypercalcemia. Can lead to metastatic hypercalcemia and osteitis fibrosa cystica.
- Secondary Hyperparathyroidism: Often due to renal failure; PTH levels are increased but calcium may be normal or low, resulting in renal osteodystrophy.
-
Hypoparathyroidism:
- Causes: Could be due to DiGeorge syndrome, thyroidectomy, or idiopathic.
- Effects: Hypocalcemia leads to tetany and convulsions, indicated by Trousseau's sign and Chvostek's sign.
- Pseudohypoparathyroidism: Normal parathyroid function, but with insensitivity to PTH receptors; associated with high PTH and Albright's hereditary osteodystrophy (short stature, obesity, brachydactyly, and mental retardation).
Adrenal Cortex Diseases
-
Hyperfunction:
- Adrenogenital Syndrome: Congenital deficiency of enzyme 21-hydroxylase, leads to decreased glucocorticoids and increased ACTH, causing overproduction of androgens. Symptoms include enlarged genitalia in males and ambiguous genitalia in females.
- Hyperaldosteronism: Primarily due to a functional adenoma; leads to Conn's syndrome associated with hypertension and hypokalemia.
- Cushing's Disease: 70% due to pituitary adenoma causing excess ACTH; leads to elevated ACTH levels.
- Cushing's Syndrome: Characterized by decreased ACTH; caused by corticosteroid therapy, small-cell lung cancer, or adrenal adenomas.
-
Hypofunction:
- Addison's Disease: Primary adrenal insufficiency with idiopathic atrophy, increased ACTH, and decreased cortisol; the receptor sites for cortisol are insensitive.
- Secondary Adrenocortical Deficiency: Often steroid-induced, leading to a compromise in adrenal function.
Adrenal Disorders
- Nelson's Syndrome: Results from adrenal removal to treat Cushing's syndrome when Cushing's disease is actually present.
- Waterhouse-Friderichsen Syndrome: Characterized by bilateral adrenal hemorrhaging associated with septicemia, often linked to meningococcal meningitis, and is usually fatal.
Diseases of the Adrenal Medulla
- Pheochromocytoma: Neoplasm of chromaffin cells producing catecholamines, leading to severe hypertension (e.g., blood pressure of 200/120). Urinary vanillylmandelic acid (VMA) levels are elevated.
- Ganglioneuroma: A benign tumor originating from neural crest cells.
- Neuroblastoma: The third most common malignancy in children, capable of metastasizing to the eyes, liver, and bone marrow.
Multiple Endocrine Neoplasia (MEN) Syndromes
-
MEN Type I (Wermer Syndrome):
- Autosomal dominant, chromosome #11.
- Include parathyroid tumors (hypercalcemia), pancreatic tumors (excess insulin, Zollinger-Ellison syndrome), and pituitary tumors (hyperprolactinemia).
-
MEN Type IIa (Sipple Syndrome):
- Features thyroid tumors (medullary carcinoma with excess calcitonin), parathyroid tumors (hypercalcemia), and adrenal medulla tumors (pheochromocytoma).
-
MEN Type IIb (William Syndrome):
- Involves tumors of the thyroid, adrenal medulla, and extra-endocrine ganglioneuromas.
Parathyroid Gland Disorders
-
Hyperparathyroidism:
- Primary Hyperparathyroidism: Caused by primary adenoma; characterized by increased PTH and hypercalcemia. Can lead to metastatic hypercalcemia and osteitis fibrosa cystica.
- Secondary Hyperparathyroidism: Often due to renal failure; PTH levels are increased but calcium may be normal or low, resulting in renal osteodystrophy.
-
Hypoparathyroidism:
- Causes: Could be due to DiGeorge syndrome, thyroidectomy, or idiopathic.
- Effects: Hypocalcemia leads to tetany and convulsions, indicated by Trousseau's sign and Chvostek's sign.
- Pseudohypoparathyroidism: Normal parathyroid function, but with insensitivity to PTH receptors; associated with high PTH and Albright's hereditary osteodystrophy (short stature, obesity, brachydactyly, and mental retardation).
Adrenal Cortex Diseases
-
Hyperfunction:
- Adrenogenital Syndrome: Congenital deficiency of enzyme 21-hydroxylase, leads to decreased glucocorticoids and increased ACTH, causing overproduction of androgens. Symptoms include enlarged genitalia in males and ambiguous genitalia in females.
- Hyperaldosteronism: Primarily due to a functional adenoma; leads to Conn's syndrome associated with hypertension and hypokalemia.
- Cushing's Disease: 70% due to pituitary adenoma causing excess ACTH; leads to elevated ACTH levels.
- Cushing's Syndrome: Characterized by decreased ACTH; caused by corticosteroid therapy, small-cell lung cancer, or adrenal adenomas.
-
Hypofunction:
- Addison's Disease: Primary adrenal insufficiency with idiopathic atrophy, increased ACTH, and decreased cortisol; the receptor sites for cortisol are insensitive.
- Secondary Adrenocortical Deficiency: Often steroid-induced, leading to a compromise in adrenal function.
Adrenal Disorders
- Nelson's Syndrome: Results from adrenal removal to treat Cushing's syndrome when Cushing's disease is actually present.
- Waterhouse-Friderichsen Syndrome: Characterized by bilateral adrenal hemorrhaging associated with septicemia, often linked to meningococcal meningitis, and is usually fatal.
Diseases of the Adrenal Medulla
- Pheochromocytoma: Neoplasm of chromaffin cells producing catecholamines, leading to severe hypertension (e.g., blood pressure of 200/120). Urinary vanillylmandelic acid (VMA) levels are elevated.
- Ganglioneuroma: A benign tumor originating from neural crest cells.
- Neuroblastoma: The third most common malignancy in children, capable of metastasizing to the eyes, liver, and bone marrow.
Multiple Endocrine Neoplasia (MEN) Syndromes
-
MEN Type I (Wermer Syndrome):
- Autosomal dominant, chromosome #11.
- Include parathyroid tumors (hypercalcemia), pancreatic tumors (excess insulin, Zollinger-Ellison syndrome), and pituitary tumors (hyperprolactinemia).
-
MEN Type IIa (Sipple Syndrome):
- Features thyroid tumors (medullary carcinoma with excess calcitonin), parathyroid tumors (hypercalcemia), and adrenal medulla tumors (pheochromocytoma).
-
MEN Type IIb (William Syndrome):
- Involves tumors of the thyroid, adrenal medulla, and extra-endocrine ganglioneuromas.
Parathyroid Gland Disorders
-
Hyperparathyroidism:
- Primary Hyperparathyroidism: Caused by primary adenoma; characterized by increased PTH and hypercalcemia. Can lead to metastatic hypercalcemia and osteitis fibrosa cystica.
- Secondary Hyperparathyroidism: Often due to renal failure; PTH levels are increased but calcium may be normal or low, resulting in renal osteodystrophy.
-
Hypoparathyroidism:
- Causes: Could be due to DiGeorge syndrome, thyroidectomy, or idiopathic.
- Effects: Hypocalcemia leads to tetany and convulsions, indicated by Trousseau's sign and Chvostek's sign.
- Pseudohypoparathyroidism: Normal parathyroid function, but with insensitivity to PTH receptors; associated with high PTH and Albright's hereditary osteodystrophy (short stature, obesity, brachydactyly, and mental retardation).
Adrenal Cortex Diseases
-
Hyperfunction:
- Adrenogenital Syndrome: Congenital deficiency of enzyme 21-hydroxylase, leads to decreased glucocorticoids and increased ACTH, causing overproduction of androgens. Symptoms include enlarged genitalia in males and ambiguous genitalia in females.
- Hyperaldosteronism: Primarily due to a functional adenoma; leads to Conn's syndrome associated with hypertension and hypokalemia.
- Cushing's Disease: 70% due to pituitary adenoma causing excess ACTH; leads to elevated ACTH levels.
- Cushing's Syndrome: Characterized by decreased ACTH; caused by corticosteroid therapy, small-cell lung cancer, or adrenal adenomas.
-
Hypofunction:
- Addison's Disease: Primary adrenal insufficiency with idiopathic atrophy, increased ACTH, and decreased cortisol; the receptor sites for cortisol are insensitive.
- Secondary Adrenocortical Deficiency: Often steroid-induced, leading to a compromise in adrenal function.
Diseases of Endocrine Pancreas
- Alpha cells produce glucagon; beta cells produce insulin.
- Diabetes Mellitus: Greek for “sweet urine” indicating glucose presence.
-
Diagnosis:
- Hyperglycemia detected with fasting glucose ≥125 mg/dL.
- Abnormal glucose tolerance test: Post 2-hour glucose level ≥200 mg/dL.
-
Classification:
-
Primary Diabetes Mellitus:
- Type I: Insulin-dependent, characterized by no insulin production. Often juvenile onset.
- Type II: Non-insulin dependent, often associated with obesity, produces insufficient insulin. Most common type.
- Gestational Diabetes Mellitus: Hyperglycemia during pregnancy.
-
Secondary Diabetes Mellitus:
- Caused by chronic pancreatitis (often due to alcoholism) or hormonal tumors (like pheochromocytoma).
- Can result from hemochromatosis (iron overload) or drugs (like glucocorticoids).
-
Primary Diabetes Mellitus:
-
Incidence:
- Lifetime risk for Type I: 0.5%; for Type II: 5-7%.
-
Type I Pathogenesis:
- Loss of beta cell function; autoantibodies against islet cells present.
-
Type I Metabolic Derangements:
- Symptoms include polyphagia, polyuria, polydipsia, potential ketoacidosis leading to coma.
-
Type II Pathogenesis:
- Obesity leads to hyperglycemia, causing increased beta cell insulin secretion over time.
-
Type II Metabolic Derangements:
- Rare ketoacidosis; hyperosmolar non-ketotic coma can occur, with dehydration and polyuria.
-
Complications:
- Most common cause of death: cardiac failure.
- Second cause: kidney failure.
Diseases of the Skeletal System
-
Injuries:
-
Soft Tissue Injuries:
- Contusions classified as petechiae (pinpoint) and purpura (bruises).
- Hematoma and lacerations also considered.
-
Joint Injuries:
- Strains: Stretching/tearing of muscles/tendons, pain with stretching.
- Sprains: Stretching/tearing of ligaments, classified by severity (Grades 1-4).
- Treatment includes RICE (rest, ice, compression, elevation) and immobilization.
- Dislocations: Common in the shoulder; causes include congenital, traumatic, and pathologic factors.
- Loose bodies in joints: Small cartilage/bone pieces present.
- Knee injuries typically involve meniscus, with medial meniscus linked to MCL injuries. Chondromalacia prevalent in young females.
- Hip injuries: Posterior hip dislocation common, with potential for avascular necrosis of femoral head.
-
Soft Tissue Injuries:
-
Fractures:
- Classified by location, open vs. closed, complete vs. incomplete, and configuration (transverse vs. oblique).
-
Bone Healing:
- Stages: Hematoma formation, fibrocartilaginous callus formation, bony callus formation, and remodeling.
-
Complications of Fractures:
- Fracture blister: Blisters form due to swelling.
- Compartment syndrome: Increased pressure leading to reduced blood flow.
- Complex regional pain syndrome: Pain not matching injury severity.
- Pulmonary fat embolism risk.
Infections of Bone
-
Acute Suppurative Osteomyelitis:
- Most common post-trauma infection, primarily caused by Staphylococcus aureus; Salmonella in sickle-cell patients.
- Pathogenesis involves sequestrum (dead bone) and involucrum (new bone encasement).
-
Miliary Tuberculosis:
- Primarily pulmonary, but can affect other regions.
- Pott Disease: Tuberculosis in the spine, discharging caseous material; does not invade IVD.
-
Osteonecrosis:
- Results from any ischemic condition.
Diseases of Endocrine Pancreas
- Alpha cells produce glucagon; beta cells produce insulin.
- Diabetes Mellitus: Greek for “sweet urine” indicating glucose presence.
-
Diagnosis:
- Hyperglycemia detected with fasting glucose ≥125 mg/dL.
- Abnormal glucose tolerance test: Post 2-hour glucose level ≥200 mg/dL.
-
Classification:
-
Primary Diabetes Mellitus:
- Type I: Insulin-dependent, characterized by no insulin production. Often juvenile onset.
- Type II: Non-insulin dependent, often associated with obesity, produces insufficient insulin. Most common type.
- Gestational Diabetes Mellitus: Hyperglycemia during pregnancy.
-
Secondary Diabetes Mellitus:
- Caused by chronic pancreatitis (often due to alcoholism) or hormonal tumors (like pheochromocytoma).
- Can result from hemochromatosis (iron overload) or drugs (like glucocorticoids).
-
Primary Diabetes Mellitus:
-
Incidence:
- Lifetime risk for Type I: 0.5%; for Type II: 5-7%.
-
Type I Pathogenesis:
- Loss of beta cell function; autoantibodies against islet cells present.
-
Type I Metabolic Derangements:
- Symptoms include polyphagia, polyuria, polydipsia, potential ketoacidosis leading to coma.
-
Type II Pathogenesis:
- Obesity leads to hyperglycemia, causing increased beta cell insulin secretion over time.
-
Type II Metabolic Derangements:
- Rare ketoacidosis; hyperosmolar non-ketotic coma can occur, with dehydration and polyuria.
-
Complications:
- Most common cause of death: cardiac failure.
- Second cause: kidney failure.
Diseases of the Skeletal System
-
Injuries:
-
Soft Tissue Injuries:
- Contusions classified as petechiae (pinpoint) and purpura (bruises).
- Hematoma and lacerations also considered.
-
Joint Injuries:
- Strains: Stretching/tearing of muscles/tendons, pain with stretching.
- Sprains: Stretching/tearing of ligaments, classified by severity (Grades 1-4).
- Treatment includes RICE (rest, ice, compression, elevation) and immobilization.
- Dislocations: Common in the shoulder; causes include congenital, traumatic, and pathologic factors.
- Loose bodies in joints: Small cartilage/bone pieces present.
- Knee injuries typically involve meniscus, with medial meniscus linked to MCL injuries. Chondromalacia prevalent in young females.
- Hip injuries: Posterior hip dislocation common, with potential for avascular necrosis of femoral head.
-
Soft Tissue Injuries:
-
Fractures:
- Classified by location, open vs. closed, complete vs. incomplete, and configuration (transverse vs. oblique).
-
Bone Healing:
- Stages: Hematoma formation, fibrocartilaginous callus formation, bony callus formation, and remodeling.
-
Complications of Fractures:
- Fracture blister: Blisters form due to swelling.
- Compartment syndrome: Increased pressure leading to reduced blood flow.
- Complex regional pain syndrome: Pain not matching injury severity.
- Pulmonary fat embolism risk.
Infections of Bone
-
Acute Suppurative Osteomyelitis:
- Most common post-trauma infection, primarily caused by Staphylococcus aureus; Salmonella in sickle-cell patients.
- Pathogenesis involves sequestrum (dead bone) and involucrum (new bone encasement).
-
Miliary Tuberculosis:
- Primarily pulmonary, but can affect other regions.
- Pott Disease: Tuberculosis in the spine, discharging caseous material; does not invade IVD.
-
Osteonecrosis:
- Results from any ischemic condition.
Diseases of Endocrine Pancreas
- Alpha cells produce glucagon; beta cells produce insulin.
- Diabetes Mellitus: Greek for “sweet urine” indicating glucose presence.
-
Diagnosis:
- Hyperglycemia detected with fasting glucose ≥125 mg/dL.
- Abnormal glucose tolerance test: Post 2-hour glucose level ≥200 mg/dL.
-
Classification:
-
Primary Diabetes Mellitus:
- Type I: Insulin-dependent, characterized by no insulin production. Often juvenile onset.
- Type II: Non-insulin dependent, often associated with obesity, produces insufficient insulin. Most common type.
- Gestational Diabetes Mellitus: Hyperglycemia during pregnancy.
-
Secondary Diabetes Mellitus:
- Caused by chronic pancreatitis (often due to alcoholism) or hormonal tumors (like pheochromocytoma).
- Can result from hemochromatosis (iron overload) or drugs (like glucocorticoids).
-
Primary Diabetes Mellitus:
-
Incidence:
- Lifetime risk for Type I: 0.5%; for Type II: 5-7%.
-
Type I Pathogenesis:
- Loss of beta cell function; autoantibodies against islet cells present.
-
Type I Metabolic Derangements:
- Symptoms include polyphagia, polyuria, polydipsia, potential ketoacidosis leading to coma.
-
Type II Pathogenesis:
- Obesity leads to hyperglycemia, causing increased beta cell insulin secretion over time.
-
Type II Metabolic Derangements:
- Rare ketoacidosis; hyperosmolar non-ketotic coma can occur, with dehydration and polyuria.
-
Complications:
- Most common cause of death: cardiac failure.
- Second cause: kidney failure.
Diseases of the Skeletal System
-
Injuries:
-
Soft Tissue Injuries:
- Contusions classified as petechiae (pinpoint) and purpura (bruises).
- Hematoma and lacerations also considered.
-
Joint Injuries:
- Strains: Stretching/tearing of muscles/tendons, pain with stretching.
- Sprains: Stretching/tearing of ligaments, classified by severity (Grades 1-4).
- Treatment includes RICE (rest, ice, compression, elevation) and immobilization.
- Dislocations: Common in the shoulder; causes include congenital, traumatic, and pathologic factors.
- Loose bodies in joints: Small cartilage/bone pieces present.
- Knee injuries typically involve meniscus, with medial meniscus linked to MCL injuries. Chondromalacia prevalent in young females.
- Hip injuries: Posterior hip dislocation common, with potential for avascular necrosis of femoral head.
-
Soft Tissue Injuries:
-
Fractures:
- Classified by location, open vs. closed, complete vs. incomplete, and configuration (transverse vs. oblique).
-
Bone Healing:
- Stages: Hematoma formation, fibrocartilaginous callus formation, bony callus formation, and remodeling.
-
Complications of Fractures:
- Fracture blister: Blisters form due to swelling.
- Compartment syndrome: Increased pressure leading to reduced blood flow.
- Complex regional pain syndrome: Pain not matching injury severity.
- Pulmonary fat embolism risk.
Infections of Bone
-
Acute Suppurative Osteomyelitis:
- Most common post-trauma infection, primarily caused by Staphylococcus aureus; Salmonella in sickle-cell patients.
- Pathogenesis involves sequestrum (dead bone) and involucrum (new bone encasement).
-
Miliary Tuberculosis:
- Primarily pulmonary, but can affect other regions.
- Pott Disease: Tuberculosis in the spine, discharging caseous material; does not invade IVD.
-
Osteonecrosis:
- Results from any ischemic condition.
Neoplastic Diseases of Bone
- Most prevalent malignant tumor is metastases, affecting bone, brain, liver, and gastrointestinal tract.
Benign Bone-Forming Tumors
- Osteoma: Typically located in flat bones, especially the skull.
- Osteoid Osteoma: Uncommon but causes significant pain; found in metaphysis of long bones and vertebrae; secretes prostaglandins, with pain exacerbated by alcohol and alleviated by aspirin.
- Osteoblastoma: Similar to osteoid osteoma but less painful.
Malignant Bone-Forming Tumors
- Osteosarcoma: Most prevalent primary malignant bone tumor; often arises near the knee joint and proximal humerus.
Benign Cartilage-Forming Tumors
- Osteochondroma: Most common primary benign bone tumor; characterized by a mushroom-like protrusion, primarily near the knee.
- Chondroma: Typically occurs in the metacarpals and phalanges of hands and feet.
- Ollier's Disease: Multiple enchondromas with potential for malignant transformation, known as enchondromatosis.
- Maffuci Syndrome: Multiple chondromas associated with cavernous hemangiomas on the skin; hemangiomas present as birthmarks that fade with age.
- Chondroblastoma: Slow-growing tumor found in upper femur, tibia, and humerus; features sharply defined borders.
Malignant Cartilage-Forming Tumors
- Chondrosarcoma: Second most common primary tumor; typically diagnosed after age 20; metastasizes primarily to lungs.
Other Bone Tumors
- Giant Cell Tumor: Noted for 'big bubbles' within bone structure.
- Ewing's Sarcoma: Characterized by onion-skin lesions.
Primary Malignant Tumors in Bone
- Multiple Myeloma: Most common primary malignant tumor of bone marrow, comprising plasma cells; frequently observed in spine and ribs; presents with fractures and "punched-out" lytic lesions.
- Secondary Metastases: The most common bone tumor; includes osteolytic (e.g., metastasizes to thyroid) and osteosclerotic types (e.g., metastasizes to prostate).
Genetic Diseases of Bone
-
Osteogenesis Imperfecta (OI): Also known as brittle bone disease; results from abnormal type I collagen development; type 1 OI is the most common, inherits autosomal dominant, characterized by blue sclera and frequent fractures.
-
Achondroplasia: Affects the appendicular skeleton, while the axial system remains normal.
-
Osteopetrosis: Known as marble-bone disease; marked by a failure of bone remodeling, leading to abnormally dense bones and potential cranial nerve palsies.
-
Cleidocranial Dysplasia: Features include hypoplasia or absence of clavicles, facial skeleton abnormalities, numerous teeth, and "bird face" appearance.
-
Marfan Syndrome: Associated with stretchy crosslinks between elastin and type 1 collagen; characterized by long limbs, arachnodactyly, and risk of dissecting aortic aneurysm due to cystic medial necrosis; diagnostic signs include Steinberg and Walker-Murdoch signs.
Metabolic Bone Diseases
-
General Information: Inorganic to organic bone component ratio is 2:1; calcium serves as the inorganic component, while osteoid represents the organic counterpart.
-
T-Score Classification: Normal range is 1.0 to -1, osteopenia is -1 to -2.5, and osteoporosis is below -2.5; typically leads to fractures of the femoral neck and Dowager's hump from vertebral collapse.
Osteoporosis
- Type 1 (Primary): Increased osteoclast activity, commonly in postmenopausal women.
- Type 2 (Primary): Reduction in osteoblastic activity due to aging, affecting both sexes.
- Secondary Osteoporosis: Observed in individuals immobilized, undergoing chemotherapy, or with neoplasia/malabsorption syndromes.
Rickets and Osteomalacia
- Result from issues with inorganic bone; rickets affects children due to vitamin D deficiency, while osteomalacia affects adults; both involve defective mineralization.
Scurvy
- Caused by vitamin C deficiency, impeding osteoid formation; vitamin C is crucial for collagen synthesis.
Hyperparathyroidism
- Primary Hyperparathyroidism: Results from hyperactive parathyroid glands due to benign tumors; leads to increased blood calcium levels.
Neoplastic Diseases of Bone
- Most prevalent malignant tumor is metastases, affecting bone, brain, liver, and gastrointestinal tract.
Benign Bone-Forming Tumors
- Osteoma: Typically located in flat bones, especially the skull.
- Osteoid Osteoma: Uncommon but causes significant pain; found in metaphysis of long bones and vertebrae; secretes prostaglandins, with pain exacerbated by alcohol and alleviated by aspirin.
- Osteoblastoma: Similar to osteoid osteoma but less painful.
Malignant Bone-Forming Tumors
- Osteosarcoma: Most prevalent primary malignant bone tumor; often arises near the knee joint and proximal humerus.
Benign Cartilage-Forming Tumors
- Osteochondroma: Most common primary benign bone tumor; characterized by a mushroom-like protrusion, primarily near the knee.
- Chondroma: Typically occurs in the metacarpals and phalanges of hands and feet.
- Ollier's Disease: Multiple enchondromas with potential for malignant transformation, known as enchondromatosis.
- Maffuci Syndrome: Multiple chondromas associated with cavernous hemangiomas on the skin; hemangiomas present as birthmarks that fade with age.
- Chondroblastoma: Slow-growing tumor found in upper femur, tibia, and humerus; features sharply defined borders.
Malignant Cartilage-Forming Tumors
- Chondrosarcoma: Second most common primary tumor; typically diagnosed after age 20; metastasizes primarily to lungs.
Other Bone Tumors
- Giant Cell Tumor: Noted for 'big bubbles' within bone structure.
- Ewing's Sarcoma: Characterized by onion-skin lesions.
Primary Malignant Tumors in Bone
- Multiple Myeloma: Most common primary malignant tumor of bone marrow, comprising plasma cells; frequently observed in spine and ribs; presents with fractures and "punched-out" lytic lesions.
- Secondary Metastases: The most common bone tumor; includes osteolytic (e.g., metastasizes to thyroid) and osteosclerotic types (e.g., metastasizes to prostate).
Genetic Diseases of Bone
-
Osteogenesis Imperfecta (OI): Also known as brittle bone disease; results from abnormal type I collagen development; type 1 OI is the most common, inherits autosomal dominant, characterized by blue sclera and frequent fractures.
-
Achondroplasia: Affects the appendicular skeleton, while the axial system remains normal.
-
Osteopetrosis: Known as marble-bone disease; marked by a failure of bone remodeling, leading to abnormally dense bones and potential cranial nerve palsies.
-
Cleidocranial Dysplasia: Features include hypoplasia or absence of clavicles, facial skeleton abnormalities, numerous teeth, and "bird face" appearance.
-
Marfan Syndrome: Associated with stretchy crosslinks between elastin and type 1 collagen; characterized by long limbs, arachnodactyly, and risk of dissecting aortic aneurysm due to cystic medial necrosis; diagnostic signs include Steinberg and Walker-Murdoch signs.
Metabolic Bone Diseases
-
General Information: Inorganic to organic bone component ratio is 2:1; calcium serves as the inorganic component, while osteoid represents the organic counterpart.
-
T-Score Classification: Normal range is 1.0 to -1, osteopenia is -1 to -2.5, and osteoporosis is below -2.5; typically leads to fractures of the femoral neck and Dowager's hump from vertebral collapse.
Osteoporosis
- Type 1 (Primary): Increased osteoclast activity, commonly in postmenopausal women.
- Type 2 (Primary): Reduction in osteoblastic activity due to aging, affecting both sexes.
- Secondary Osteoporosis: Observed in individuals immobilized, undergoing chemotherapy, or with neoplasia/malabsorption syndromes.
Rickets and Osteomalacia
- Result from issues with inorganic bone; rickets affects children due to vitamin D deficiency, while osteomalacia affects adults; both involve defective mineralization.
Scurvy
- Caused by vitamin C deficiency, impeding osteoid formation; vitamin C is crucial for collagen synthesis.
Hyperparathyroidism
- Primary Hyperparathyroidism: Results from hyperactive parathyroid glands due to benign tumors; leads to increased blood calcium levels.
Neoplastic Diseases of Bone
- Most prevalent malignant tumor is metastases, affecting bone, brain, liver, and gastrointestinal tract.
Benign Bone-Forming Tumors
- Osteoma: Typically located in flat bones, especially the skull.
- Osteoid Osteoma: Uncommon but causes significant pain; found in metaphysis of long bones and vertebrae; secretes prostaglandins, with pain exacerbated by alcohol and alleviated by aspirin.
- Osteoblastoma: Similar to osteoid osteoma but less painful.
Malignant Bone-Forming Tumors
- Osteosarcoma: Most prevalent primary malignant bone tumor; often arises near the knee joint and proximal humerus.
Benign Cartilage-Forming Tumors
- Osteochondroma: Most common primary benign bone tumor; characterized by a mushroom-like protrusion, primarily near the knee.
- Chondroma: Typically occurs in the metacarpals and phalanges of hands and feet.
- Ollier's Disease: Multiple enchondromas with potential for malignant transformation, known as enchondromatosis.
- Maffuci Syndrome: Multiple chondromas associated with cavernous hemangiomas on the skin; hemangiomas present as birthmarks that fade with age.
- Chondroblastoma: Slow-growing tumor found in upper femur, tibia, and humerus; features sharply defined borders.
Malignant Cartilage-Forming Tumors
- Chondrosarcoma: Second most common primary tumor; typically diagnosed after age 20; metastasizes primarily to lungs.
Other Bone Tumors
- Giant Cell Tumor: Noted for 'big bubbles' within bone structure.
- Ewing's Sarcoma: Characterized by onion-skin lesions.
Primary Malignant Tumors in Bone
- Multiple Myeloma: Most common primary malignant tumor of bone marrow, comprising plasma cells; frequently observed in spine and ribs; presents with fractures and "punched-out" lytic lesions.
- Secondary Metastases: The most common bone tumor; includes osteolytic (e.g., metastasizes to thyroid) and osteosclerotic types (e.g., metastasizes to prostate).
Genetic Diseases of Bone
-
Osteogenesis Imperfecta (OI): Also known as brittle bone disease; results from abnormal type I collagen development; type 1 OI is the most common, inherits autosomal dominant, characterized by blue sclera and frequent fractures.
-
Achondroplasia: Affects the appendicular skeleton, while the axial system remains normal.
-
Osteopetrosis: Known as marble-bone disease; marked by a failure of bone remodeling, leading to abnormally dense bones and potential cranial nerve palsies.
-
Cleidocranial Dysplasia: Features include hypoplasia or absence of clavicles, facial skeleton abnormalities, numerous teeth, and "bird face" appearance.
-
Marfan Syndrome: Associated with stretchy crosslinks between elastin and type 1 collagen; characterized by long limbs, arachnodactyly, and risk of dissecting aortic aneurysm due to cystic medial necrosis; diagnostic signs include Steinberg and Walker-Murdoch signs.
Metabolic Bone Diseases
-
General Information: Inorganic to organic bone component ratio is 2:1; calcium serves as the inorganic component, while osteoid represents the organic counterpart.
-
T-Score Classification: Normal range is 1.0 to -1, osteopenia is -1 to -2.5, and osteoporosis is below -2.5; typically leads to fractures of the femoral neck and Dowager's hump from vertebral collapse.
Osteoporosis
- Type 1 (Primary): Increased osteoclast activity, commonly in postmenopausal women.
- Type 2 (Primary): Reduction in osteoblastic activity due to aging, affecting both sexes.
- Secondary Osteoporosis: Observed in individuals immobilized, undergoing chemotherapy, or with neoplasia/malabsorption syndromes.
Rickets and Osteomalacia
- Result from issues with inorganic bone; rickets affects children due to vitamin D deficiency, while osteomalacia affects adults; both involve defective mineralization.
Scurvy
- Caused by vitamin C deficiency, impeding osteoid formation; vitamin C is crucial for collagen synthesis.
Hyperparathyroidism
- Primary Hyperparathyroidism: Results from hyperactive parathyroid glands due to benign tumors; leads to increased blood calcium levels.
Miscellaneous Bone Diseases
-
Paget Disease (Osteitis Deformans): Characterized by enlarged bones, typically in older adults.
- Stage 1: Increased osteoclast activity leads to bone resorption, elevated blood calcium levels, and alkaline phosphatase.
- Stage 2: Osteoclast activity halts; bone deposition continues.
- Stage 3: Decreased cellular activity results in disorganized bone structure.
-
Fibrous Dysplasia: Causes larger than normal bones, usually diagnosed earlier in life.
- Results from the replacement of bone with non-mineralized cellular connective tissues leading to increased cancellous bone.
- Notable feature: "Shepherd's crook" deformity of the proximal femur.
-
McCune-Albright Syndrome: Fibrous dysplasia associated with skin pigmentation and endocrine disorders.
Pediatric Bone Diseases
-
Juvenile Osteochondrosis: Defined by aseptic ischemic necrosis affecting growing bones.
-
Legg-Calve-Perthes Disease: Osteonecrosis of the proximal femoral epiphysis; typically unilateral, affecting young children.
-
Osgood Schlatter Disease: Microfractures at tibial tuberosity where the patellar ligament attaches; common in adolescents.
-
Slipped Femoral Epiphysis: Disorder affecting the growth plate of the femoral head, leading to misalignment.
-
Scoliosis: More prevalent in females (8:1 female to male ratio).
- Postural Scoliosis: Correctable curve with bending.
- Structural Scoliosis: Fixed curvature not correctable by bending.
- Types:
- Congenital: Result of developmental disturbances.
- Neuromuscular: Associated with conditions like cerebral palsy and Duchenne muscular dystrophy.
- Idiopathic: Most common form of structural scoliosis.
- Types:
Joint Diseases
-
Congenital:
- Congenital Dislocation of the Hip: Inadequate acetabulum formation leading to femoral head dislocation.
- Clubfoot (Talipes Equinovarus): Most common, with medial turning and plantarflexion; calcaneovalgus denotes lateral turning and dorsiflexion.
-
Infectious:
- Suppurative Arthritis (Seplic Arthritis): Bacterial infection causing pus formation; most often caused by Staphylococcus aureus.
- Lyme Disease: Infection from tick bite (Borrelia burgdorferi); symptoms include erythema migrans.
-
Immunological:
- Rheumatoid Arthritis: Characterized by pannus formation and finger deformities.
- Types:
- Felty Syndrome: Chronic RA with splenomegaly.
- Still Disease: Juvenile RA with rash, fever, and lymphadenopathy.
- Sjogren Syndrome: RA with dry mouth and eyes.
- Types:
- Reactive Arthritis: Infection-associated arthritis, conjunctivitis, and non-gonococcal urethritis; linked to HLA-B27 antigen in ~80% of cases.
- Rheumatoid Arthritis: Characterized by pannus formation and finger deformities.
-
Degenerative:
- Ankylosing Spondylitis: ~95% of cases associated with HLA-B27 antigen.
- Osteoarthritis: Most common form of joint disease.
-
Metabolic:
- Gouty Arthritis:
- Primary Gout: Genetic enzyme defect causing abnormal purine metabolism.
- Secondary Gout: Inability to excrete uric acid due to renal disease, leading to accumulation in joints.
- Hyperuricemia: Necessary for gout manifestation.
- Gouty Arthritis:
Muscle Disorders
-
Muscle Atrophy:
- Type 1 Myofiber Atrophy: Neurogenic atrophy caused by loss of nerve supply.
- Type 2 Myofiber Atrophy: Disuse atrophy affecting fast-twitch Type 2 muscle fibers, commonly in glucocorticoid users.
-
Myasthenia Gravis: Autoimmune disorder where antibodies destroy acetylcholine receptor sites at the neuromuscular junction.
- Symptoms worsen throughout the day, starting with muscle weakness in the morning.
-
Eaton-Lambert Syndrome (Myasthenic Syndrome): Antibodies target calcium channels, causing muscle weakness that worsens with muscle use.
Miscellaneous Bone Diseases
-
Paget Disease (Osteitis Deformans): Characterized by enlarged bones, typically in older adults.
- Stage 1: Increased osteoclast activity leads to bone resorption, elevated blood calcium levels, and alkaline phosphatase.
- Stage 2: Osteoclast activity halts; bone deposition continues.
- Stage 3: Decreased cellular activity results in disorganized bone structure.
-
Fibrous Dysplasia: Causes larger than normal bones, usually diagnosed earlier in life.
- Results from the replacement of bone with non-mineralized cellular connective tissues leading to increased cancellous bone.
- Notable feature: "Shepherd's crook" deformity of the proximal femur.
-
McCune-Albright Syndrome: Fibrous dysplasia associated with skin pigmentation and endocrine disorders.
Pediatric Bone Diseases
-
Juvenile Osteochondrosis: Defined by aseptic ischemic necrosis affecting growing bones.
-
Legg-Calve-Perthes Disease: Osteonecrosis of the proximal femoral epiphysis; typically unilateral, affecting young children.
-
Osgood Schlatter Disease: Microfractures at tibial tuberosity where the patellar ligament attaches; common in adolescents.
-
Slipped Femoral Epiphysis: Disorder affecting the growth plate of the femoral head, leading to misalignment.
-
Scoliosis: More prevalent in females (8:1 female to male ratio).
- Postural Scoliosis: Correctable curve with bending.
- Structural Scoliosis: Fixed curvature not correctable by bending.
- Types:
- Congenital: Result of developmental disturbances.
- Neuromuscular: Associated with conditions like cerebral palsy and Duchenne muscular dystrophy.
- Idiopathic: Most common form of structural scoliosis.
- Types:
Joint Diseases
-
Congenital:
- Congenital Dislocation of the Hip: Inadequate acetabulum formation leading to femoral head dislocation.
- Clubfoot (Talipes Equinovarus): Most common, with medial turning and plantarflexion; calcaneovalgus denotes lateral turning and dorsiflexion.
-
Infectious:
- Suppurative Arthritis (Seplic Arthritis): Bacterial infection causing pus formation; most often caused by Staphylococcus aureus.
- Lyme Disease: Infection from tick bite (Borrelia burgdorferi); symptoms include erythema migrans.
-
Immunological:
- Rheumatoid Arthritis: Characterized by pannus formation and finger deformities.
- Types:
- Felty Syndrome: Chronic RA with splenomegaly.
- Still Disease: Juvenile RA with rash, fever, and lymphadenopathy.
- Sjogren Syndrome: RA with dry mouth and eyes.
- Types:
- Reactive Arthritis: Infection-associated arthritis, conjunctivitis, and non-gonococcal urethritis; linked to HLA-B27 antigen in ~80% of cases.
- Rheumatoid Arthritis: Characterized by pannus formation and finger deformities.
-
Degenerative:
- Ankylosing Spondylitis: ~95% of cases associated with HLA-B27 antigen.
- Osteoarthritis: Most common form of joint disease.
-
Metabolic:
- Gouty Arthritis:
- Primary Gout: Genetic enzyme defect causing abnormal purine metabolism.
- Secondary Gout: Inability to excrete uric acid due to renal disease, leading to accumulation in joints.
- Hyperuricemia: Necessary for gout manifestation.
- Gouty Arthritis:
Muscle Disorders
-
Muscle Atrophy:
- Type 1 Myofiber Atrophy: Neurogenic atrophy caused by loss of nerve supply.
- Type 2 Myofiber Atrophy: Disuse atrophy affecting fast-twitch Type 2 muscle fibers, commonly in glucocorticoid users.
-
Myasthenia Gravis: Autoimmune disorder where antibodies destroy acetylcholine receptor sites at the neuromuscular junction.
- Symptoms worsen throughout the day, starting with muscle weakness in the morning.
-
Eaton-Lambert Syndrome (Myasthenic Syndrome): Antibodies target calcium channels, causing muscle weakness that worsens with muscle use.
Miscellaneous Bone Diseases
-
Paget Disease (Osteitis Deformans): Characterized by enlarged bones, typically in older adults.
- Stage 1: Increased osteoclast activity leads to bone resorption, elevated blood calcium levels, and alkaline phosphatase.
- Stage 2: Osteoclast activity halts; bone deposition continues.
- Stage 3: Decreased cellular activity results in disorganized bone structure.
-
Fibrous Dysplasia: Causes larger than normal bones, usually diagnosed earlier in life.
- Results from the replacement of bone with non-mineralized cellular connective tissues leading to increased cancellous bone.
- Notable feature: "Shepherd's crook" deformity of the proximal femur.
-
McCune-Albright Syndrome: Fibrous dysplasia associated with skin pigmentation and endocrine disorders.
Pediatric Bone Diseases
-
Juvenile Osteochondrosis: Defined by aseptic ischemic necrosis affecting growing bones.
-
Legg-Calve-Perthes Disease: Osteonecrosis of the proximal femoral epiphysis; typically unilateral, affecting young children.
-
Osgood Schlatter Disease: Microfractures at tibial tuberosity where the patellar ligament attaches; common in adolescents.
-
Slipped Femoral Epiphysis: Disorder affecting the growth plate of the femoral head, leading to misalignment.
-
Scoliosis: More prevalent in females (8:1 female to male ratio).
- Postural Scoliosis: Correctable curve with bending.
- Structural Scoliosis: Fixed curvature not correctable by bending.
- Types:
- Congenital: Result of developmental disturbances.
- Neuromuscular: Associated with conditions like cerebral palsy and Duchenne muscular dystrophy.
- Idiopathic: Most common form of structural scoliosis.
- Types:
Joint Diseases
-
Congenital:
- Congenital Dislocation of the Hip: Inadequate acetabulum formation leading to femoral head dislocation.
- Clubfoot (Talipes Equinovarus): Most common, with medial turning and plantarflexion; calcaneovalgus denotes lateral turning and dorsiflexion.
-
Infectious:
- Suppurative Arthritis (Seplic Arthritis): Bacterial infection causing pus formation; most often caused by Staphylococcus aureus.
- Lyme Disease: Infection from tick bite (Borrelia burgdorferi); symptoms include erythema migrans.
-
Immunological:
- Rheumatoid Arthritis: Characterized by pannus formation and finger deformities.
- Types:
- Felty Syndrome: Chronic RA with splenomegaly.
- Still Disease: Juvenile RA with rash, fever, and lymphadenopathy.
- Sjogren Syndrome: RA with dry mouth and eyes.
- Types:
- Reactive Arthritis: Infection-associated arthritis, conjunctivitis, and non-gonococcal urethritis; linked to HLA-B27 antigen in ~80% of cases.
- Rheumatoid Arthritis: Characterized by pannus formation and finger deformities.
-
Degenerative:
- Ankylosing Spondylitis: ~95% of cases associated with HLA-B27 antigen.
- Osteoarthritis: Most common form of joint disease.
-
Metabolic:
- Gouty Arthritis:
- Primary Gout: Genetic enzyme defect causing abnormal purine metabolism.
- Secondary Gout: Inability to excrete uric acid due to renal disease, leading to accumulation in joints.
- Hyperuricemia: Necessary for gout manifestation.
- Gouty Arthritis:
Muscle Disorders
-
Muscle Atrophy:
- Type 1 Myofiber Atrophy: Neurogenic atrophy caused by loss of nerve supply.
- Type 2 Myofiber Atrophy: Disuse atrophy affecting fast-twitch Type 2 muscle fibers, commonly in glucocorticoid users.
-
Myasthenia Gravis: Autoimmune disorder where antibodies destroy acetylcholine receptor sites at the neuromuscular junction.
- Symptoms worsen throughout the day, starting with muscle weakness in the morning.
-
Eaton-Lambert Syndrome (Myasthenic Syndrome): Antibodies target calcium channels, causing muscle weakness that worsens with muscle use.
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