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Questions and Answers
What characterizes the infantile phase of human growth?
What characterizes the infantile phase of human growth?
Which hormone is crucial during the intrauterine phase for determining newborn size?
Which hormone is crucial during the intrauterine phase for determining newborn size?
In which growth phase is the average growth velocity per year approximately 5 to 7 cm?
In which growth phase is the average growth velocity per year approximately 5 to 7 cm?
What is the significance of the growth plate in human growth?
What is the significance of the growth plate in human growth?
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What is the average height growth during puberty?
What is the average height growth during puberty?
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Which growth charts are currently recommended for measuring children under 2 years of age?
Which growth charts are currently recommended for measuring children under 2 years of age?
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What is a key indicator of health in children concerning growth?
What is a key indicator of health in children concerning growth?
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What factors influence the determination of normal height in children?
What factors influence the determination of normal height in children?
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What is a significant side effect associated with Chloramphenicol in infants?
What is a significant side effect associated with Chloramphenicol in infants?
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Which class of antibiotics is known for potentially damaging growing cartilage in children?
Which class of antibiotics is known for potentially damaging growing cartilage in children?
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Which antibiotic is absolutely contraindicated in children due to its effects on bone growth and teeth?
Which antibiotic is absolutely contraindicated in children due to its effects on bone growth and teeth?
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What side effect is associated with Aminoglycosides?
What side effect is associated with Aminoglycosides?
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Which type of antibiotic primarily covers gram-positive bacteria?
Which type of antibiotic primarily covers gram-positive bacteria?
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What is a common side effect of Tetracyclines?
What is a common side effect of Tetracyclines?
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Which antibiotic class binds to the 50S ribosomal subunit?
Which antibiotic class binds to the 50S ribosomal subunit?
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Which of the following is a relative contraindication for use in pediatric patients?
Which of the following is a relative contraindication for use in pediatric patients?
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What is the genetic inheritance pattern most commonly associated with the condition described?
What is the genetic inheritance pattern most commonly associated with the condition described?
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Which of the following is a significant clinical feature of the condition?
Which of the following is a significant clinical feature of the condition?
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What is the best initial laboratory test for diagnosing the condition?
What is the best initial laboratory test for diagnosing the condition?
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Which of the following findings is likely absent in the skin biopsy of a patient with the condition?
Which of the following findings is likely absent in the skin biopsy of a patient with the condition?
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Patients diagnosed with the condition should undergo which type of evaluations regularly?
Patients diagnosed with the condition should undergo which type of evaluations regularly?
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Which class of medication is commonly prescribed for patients exhibiting proteinuria?
Which class of medication is commonly prescribed for patients exhibiting proteinuria?
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What is the characteristic appearance of the kidney tissue in a biopsy of a patient with the condition if the skin biopsy is inconclusive?
What is the characteristic appearance of the kidney tissue in a biopsy of a patient with the condition if the skin biopsy is inconclusive?
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In which age range does end-stage renal disease typically manifest in patients with this condition?
In which age range does end-stage renal disease typically manifest in patients with this condition?
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What is the primary goal of empiric antibiotic therapy?
What is the primary goal of empiric antibiotic therapy?
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Which of the following antibiotics is NOT typically used for pediatric empiric therapy?
Which of the following antibiotics is NOT typically used for pediatric empiric therapy?
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When choosing an empirical antibiotic agent, it is important to consider which of the following factors?
When choosing an empirical antibiotic agent, it is important to consider which of the following factors?
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Which combination is indicated for treating a neonate with suspected bacterial infection?
Which combination is indicated for treating a neonate with suspected bacterial infection?
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Which antibiotic is often used for prophylaxis against infective endocarditis?
Which antibiotic is often used for prophylaxis against infective endocarditis?
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Which symptom is NOT typically associated with Henoch-Schönlein purpura (HSP)?
Which symptom is NOT typically associated with Henoch-Schönlein purpura (HSP)?
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What is the primary characteristic of the purpura seen in Henoch-Schönlein purpura?
What is the primary characteristic of the purpura seen in Henoch-Schönlein purpura?
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What is the typical time frame for the onset of symptoms after an infection in patients with post-streptococcal glomerulonephritis (PSGN)?
What is the typical time frame for the onset of symptoms after an infection in patients with post-streptococcal glomerulonephritis (PSGN)?
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Which medication is commonly used for patients with severe or rapidly progressing disease of minimal change disease?
Which medication is commonly used for patients with severe or rapidly progressing disease of minimal change disease?
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Which of the following laboratory findings would indicate a diagnosis other than Henoch-Schönlein purpura?
Which of the following laboratory findings would indicate a diagnosis other than Henoch-Schönlein purpura?
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What is the peak occurrence age for Henoch-Schönlein purpura?
What is the peak occurrence age for Henoch-Schönlein purpura?
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What is the most common type of skeletal dysplasia associated with short stature?
What is the most common type of skeletal dysplasia associated with short stature?
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Which of the following is a hallmark for the biopsy findings in Henoch-Schönlein purpura?
Which of the following is a hallmark for the biopsy findings in Henoch-Schönlein purpura?
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Which genetic mutation is primarily associated with achondroplasia?
Which genetic mutation is primarily associated with achondroplasia?
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In patients with Alport syndrome, which symptom is least likely to be present?
In patients with Alport syndrome, which symptom is least likely to be present?
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Which treatment is recommended for mild cases of Henoch-Schönlein purpura?
Which treatment is recommended for mild cases of Henoch-Schönlein purpura?
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What is one of the primary clinical features of osteogenesis imperfecta?
What is one of the primary clinical features of osteogenesis imperfecta?
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Which factor is NOT considered a potential trigger for Henoch-Schönlein purpura?
Which factor is NOT considered a potential trigger for Henoch-Schönlein purpura?
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Which syndrome is characterized by a complete absence of an X chromosome?
Which syndrome is characterized by a complete absence of an X chromosome?
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What type of collagen defect is associated with Alport syndrome?
What type of collagen defect is associated with Alport syndrome?
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Which clinical feature is NOT typically associated with Turner syndrome?
Which clinical feature is NOT typically associated with Turner syndrome?
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What is one of the treatment options for achondroplasia?
What is one of the treatment options for achondroplasia?
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Which condition is often confused with Henoch-Schönlein purpura due to similar symptoms?
Which condition is often confused with Henoch-Schönlein purpura due to similar symptoms?
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IgA nephropathy is known for which clinical feature?
IgA nephropathy is known for which clinical feature?
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What is a common gastrointestinal symptom associated with Henoch-Schönlein purpura?
What is a common gastrointestinal symptom associated with Henoch-Schönlein purpura?
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Which condition presents with blue sclerae and easy bruising due to defective collagen synthesis?
Which condition presents with blue sclerae and easy bruising due to defective collagen synthesis?
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For patients with Henoch-Schönlein purpura, which finding on a urinalysis would most likely indicate renal involvement?
For patients with Henoch-Schönlein purpura, which finding on a urinalysis would most likely indicate renal involvement?
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What common laboratory finding might suggest IgA nephropathy?
What common laboratory finding might suggest IgA nephropathy?
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Which of the following is a characteristic feature of Prader-Willi syndrome?
Which of the following is a characteristic feature of Prader-Willi syndrome?
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What is the primary cause of hearing loss in osteogenesis imperfecta?
What is the primary cause of hearing loss in osteogenesis imperfecta?
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Which age group is IgA nephropathy most commonly diagnosed in?
Which age group is IgA nephropathy most commonly diagnosed in?
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What is a common treatment option for osteogenesis imperfecta?
What is a common treatment option for osteogenesis imperfecta?
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What common symptom might indicate the presence of chronic glomerulonephritis?
What common symptom might indicate the presence of chronic glomerulonephritis?
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What is the target height formula for girls?
What is the target height formula for girls?
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Which condition is classified as disproportionate short stature?
Which condition is classified as disproportionate short stature?
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What is a common cause of short stature with unknown origin, covering 80% of cases?
What is a common cause of short stature with unknown origin, covering 80% of cases?
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What defines short stature in children?
What defines short stature in children?
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Which of the following is NOT a cause of postnatal short stature?
Which of the following is NOT a cause of postnatal short stature?
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What is the typical incidence of short stature referrals to a pediatric endocrinologist?
What is the typical incidence of short stature referrals to a pediatric endocrinologist?
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What is the defining feature of proportional short stature?
What is the defining feature of proportional short stature?
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Which syndrome is characterized by excessive sweating and feeding problems in infancy?
Which syndrome is characterized by excessive sweating and feeding problems in infancy?
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What laboratory test is NOT typically used to confirm GH deficiency?
What laboratory test is NOT typically used to confirm GH deficiency?
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Which of the following is included in the goals of GH treatment?
Which of the following is included in the goals of GH treatment?
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Which gene mutation is responsible for Achondroplasia?
Which gene mutation is responsible for Achondroplasia?
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What is the expected outcome for 80-90% of children classified as small for gestational age (SGA)?
What is the expected outcome for 80-90% of children classified as small for gestational age (SGA)?
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What is a characteristic of congenital growth hormone deficiency?
What is a characteristic of congenital growth hormone deficiency?
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Which condition is referred to as the 'male version of Turner syndrome'?
Which condition is referred to as the 'male version of Turner syndrome'?
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Study Notes
Growth Disorders
- Human growth is a continuous, though not linear, process, divided into infantile, childhood, and pubertal phases, each with distinct patterns. Timing and speed of growth differ between boys and girls, especially during puberty.
- Intrauterine growth is primarily influenced by maternal nutrition and placental factors. Insulin plays a role by stimulating IGF1/2 production. A newborn's typical length is around 50 cm.
- Infantile phase (first two years): Growth is initially rapid, then decelerates. Typical growth during this period is 25 to 30 cm.
- Childhood phase (3 years to adolescence): Growth is relatively constant at 5 to 7 cm per year, with some slowing in later childhood.
- Pubertal phase: Characterized by a growth spurt, typically 8 to 14 cm per year. Increased gonadal steroids (testosterone and estrogen) and growth hormone (GH) synergistically drive this growth, along with IGF-1.
- The growth plate is crucial for longitudinal growth.
- Serial growth measurements are vital for monitoring child health. Normal growth patterns suggest good health; slower-than-normal growth may indicate underlying illness, including hormonal issues.
- Auxological parameters (height/length, weight, BMI) are fundamental for assessing potential short stature.
Measurement of Growth
- Newborn measurements (length, weight, head circumference) are crucial, compared to gestational age.
- Infantometer is used to measure newborns and infants.
- Children over two years are measured by height, weight, and head circumference, corresponding to their gender. Stadiometer is used for standing measurements.
- WHO international growth charts (2006) are recommended for children under two; local charts are used for older children.
- Normal height is based on age, sex, ethnicity, and family context. Target height is calculated based on parental heights (differing calculations for boys and girls).
Short Stature
- Short stature is defined as a height 2 standard deviations below the mean for the same age, sex, and ethnic group (or below the 3rd percentile). Common causes include familial factors or constitutional delay.
- Growth failure is a growth rate below normal.
- Short stature is a frequent reason for referral to pediatric endocrinologists, with an incidence of 3-5%.
- Growth hormone deficiency prevalence is around 1 in 4000.
Classification
- Proportionate short stature: Limbs are proportionate to the trunk, often familial.
- Disproportionate short stature: Limbs are disproportionately shorter than the trunk, associated with skeletal dysplasia.
Etiology of Short Stature
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Unknown origin (Idiopathic short stature): Accounts for ~80% of cases, including familial and constitutional short stature. Constitutional short stature arises from delayed puberty.
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Prenatal origin:
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Disproportionate SS: osteochondrodysplasia (e.g., achondroplasia, hypochondroplasia - FGFR3 gene mutations), osteogenesis imperfecta (collagen 1 gene mutations), SHOX gene-related conditions (e.g., Leri-Weill dyschondroosteosis, Langermesomelic dysplasia).
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Proportionate SS: Silver-Russell syndrome (IUGR, feeding problems, triangular face, clinodactyly), Turner syndrome (45XO), Noonan syndrome (autosomal dominant, "male Turner syndrome"), Prader-Willi syndrome (SNPRN and Necdin gene defects, hypotonia, severe obesity).
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Congenital growth hormone deficiency
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Small for gestational age (SGA): Birth weight and/or length are 2 standard deviations below the mean for gestational age. Most SGA children experience catch-up growth in the first and second year.
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Postnatal origin:
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Endocrine disorders: Growth hormone deficiency, hypothyroidism, chronic hypercortisolism (including glucocorticoid use), sex steroid excess, pseudohypoparathyroidism.
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GI disorders: Inflammatory bowel disease, celiac disease.
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Renal disorders: Chronic kidney disease.
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Pulmonary disorders: Asthma, cystic fibrosis. Postnatal short stature is not usually due to GH deficiency, but rather related organ pathologies.
Growth Hormone Deficiency
- Congenital: Presents in newborns (hypoglycemia in some forms), toddlers/preschoolers with lifelong short stature, doll-like facies, truncal obesity, and brachydactyly.
- Acquired: Results from trauma, tumors (craniopharyngeoma), or autoimmune conditions.
Diagnosis of Short Stature
- History (perinatal, family).
- Physical exam (auxological parameters, pubertal stage).
- Growth pattern analysis.
- X-ray of left hand and wrist (bone age).
- Laboratory tests (CBC, CRP/ESR, biochemical markers, renal/liver/thyroid tests, urinalysis).
Tests to Confirm GH Deficiency:
- IGF-1 measurement.
- Stimulation tests (insulin tolerance test, clonidine test, glucagon test). MRI of pituitary for follow up.
- Treatment: addressing underlying causes and, potentially, recombinant GH therapy.
Achondroplasia
- Common skeletal dysplasia, caused by FGFR3 gene mutation. It has variable inheritance patterns.
- Characteristics include short stature, macrocephaly, prominent brow, midface retrusion, flattened nose, and spinal curvature abnormalities.
- Average height for adults (males ~131cm, females ~124cm).
- Treatment includes GH treatment.
Osteogenesis Imperfecta
- Genetic disorder causing type I collagen deficiency impacting bone formation.
- Features include brittle bones, fractures from minimal trauma, blue sclerae, joint laxity, hearing loss, and opalescent teeth.
- Treatment is supportive, focusing on managing fractures; IV bisphosphonates may be used.
Turner Syndrome
- Condition with complete absence of one X chromosome (45,X).
- Features include short stature, ovarian failure, congenital heart defects (CoA), kidney anomalies (horseshoe kidney), webbed neck, broad chest, wide-set nipples, low-set ears, and neonatal lymphedema.
Prader-Willi Syndrome
- Microdeletion syndrome (15q11-13) resulting in hypotonia, feeding problems, dolichocephaly, small mouth, hypogonadism, short stature, hyperphagia, severe obesity, intellectual disability, and temperament issues.
Chronic Glomerulonephritis
- Chronic GN can have few symptoms initially, presenting as asymptomatic hematuria or proteinuria.
- It may be preceded by acute nephritic syndrome. Causes could be primary (e.g., IgA nephropathy) or secondary (e.g., lupus nephritis).
IgA Nephropathy (Berger Disease)
- Most common primary GN. Frequently affects males. Etiology is unknown, but hypothesized to be related to circulating IgA antibody defects.
- Highly variable course. Can involve asymptomatic stages, recurring episodes of gross hematuria with flank pain/fever following infections ("synpharyngitic hematuria"). Can lead to rapid progression to RPGN and/or nephrotic syndrome (~10%) and ESRD (~50%).
- Diagnosis is based on clinical presentation, urinalysis (hematuria, proteinuria), serum IgA levels(sometimes elevated), and biopsy (mesangial proliferation, IgA deposits).
- Differentiate from post-streptococcal GN (low complement levels, 10-20 days after infection), lupus nephritis, or MPGN.
- Treatment includes monitoring, ACE inhibitors/ARBs, and, for severe cases, glucocorticoids plus immunosuppressants.
Henoch-Schönlein Purpura (HSP)
- Acute immune complex-mediated small vessel vasculitis, most common in children (~90% under 10 yrs).
- Typically presented by a tetrad of symptoms: palpable purpura, arthritis/arthralgia, abdominal pain, and renal disease. Often preceded by an upper respiratory infection (1-3 weeks prior).
- Diagnosis is based on clinical presentation, and laboratory tests (CBC, coagulation, serum antibodies, urinalysis). Biopsy is potentially required in complex cases, for confirmation and to assess severity of presentations (skin showing leukocytoclastic vasculitis with IgA and C3 deposits, kidney biopsy showing mesangial IgA and possible crescents).
- Differentiate from other causes of purpura, arthritis, and renal involvement.
- Treatment is typically supportive, with pain management and regular follow-up. Severe cases can require hospitalization and systemic glucocorticoids.
Alport Syndrome
- Genetic disorder caused by a defect in type IV collagen, primarily inherited as an X-linked recessive trait.
- Often presents with asymptomatic hematuria in infancy.
- Characterized by progressive glomerulonephritis, leading to ESRD (typically in adolescence-early adulthood), sensorineural hearing loss, and sometimes eye abnormalities (lenticonus).
- Diagnosis involves urinalysis, molecular genetic testing, and potentially renal biopsy (LM/EM showing "basket-weave" appearance).
- Treatment involves monitoring renal function, and potentially ACE inhibition, hearing aids, and surgical corrections (if needed).
Antibiotic Therapy in Children
- Empiric vs. targeted therapy.
- Prophylactic therapy is used to prevent infections in immunosuppressed patients, before/after surgery, or in post-exposure situations.
- Empiric therapy is used for life-threatening or severe infections, before the causative organism is known. Specific empirical therapy suggestions based on suspected site and potential pathogens. Factors influencing antibiotic choice include the suspected infection site (upper vs. lower respiratory tract and other considerations), host factors (immunosuppression, geographical location, and pre-existing conditions), and drug factors (resistance, side effects).
- Contraindications/specific considerations in pediatric antibiotic use exist for various types of antibiotics (e.g., aminoglycosides).
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Description
Test your knowledge on the various phases of human growth, including the infantile phase, intrauterine hormone influences, and the significance of growth velocity and growth plates. This quiz covers key indicators of health and the factors that determine normal height in children.