Reading Guide 5 PDF - Genetics and Congenital Anomalies

Reading Guide 5 Patho review the A&P of genetics https://www.youtube.com/watch?v=1bslwjN5l9U  What is a congenital anomaly? Definition: A congenital disorder is a condition that is present at birth. It may be caused by genetic factors, chromosomal abnormalities, or developmenta...

Reading Guide 5 Patho review the A&P of genetics https://www.youtube.com/watch?v=1bslwjN5l9U  What is a congenital anomaly? Definition: A congenital disorder is a condition that is present at birth. It may be caused by genetic factors, chromosomal abnormalities, or developmental issues during pregnancy. Conclusion: Causes: Congenital disorders vary in Genetic Factors: Single-gene mutations, chromosomal anomalies (e.g., Down syndrome). severity and impact. Early Developmental Issues: Premature birth, complications during labor, or exposure to harmful diagnosis and medical care can substances. help manage symptoms and improve quality of life Key Facts: Some congenital disorders appear at birth, while others may develop later. They can affect a single organ or multiple body systems. Risk increases with maternal age (over 35) and, in some cases, paternal age. Examples: Down Syndrome (chromosomal disorder) Cystic Fibrosis (genetic disorder) Spina Bifida (developmental disorder)  A chromosomal anomaly occurs when there is an error during meiosis, the process of cell division that creates sperm and egg cells. This can lead to missing, extra, or What is a rearranged DNA, altering genetic information. An example is Down syndrome (trisomy 21), where an extra copy of chromosome 21 is present. chromosomal Causes of Chromosomal Anomalies: anomaly? What Spontaneous errors during meiosis Exposure to damaging substances causes them? What is a risk Risk Factors: Maternal age over 35 (higher chance of errors in egg cell factor for this division) Older fathers (linked to a higher risk of genetic changes) occurring? These errors are a common cause of miscarriages in the first trimester, and about 7 in 1,000 births have a chromosomal anomaly  Not all congenital or developmental disorders are genetic. Some result from external factors affecting fetal development rather than inherited genetic mutations. When an anomaly Possible Causes Premature birth – Can lead to underdeveloped organs and is not related to disabilities. Difficult labor and delivery – May cause oxygen deprivation or trauma. genetics, what are Exposure to harmful substances (teratogens) – Examples include: possible causes? Drugs (e.g., thalidomide, alcohol, certain medications) Radiation exposure Infections (e.g., rubella, toxoplasmosis, syphilis during pregnancy) Poor maternal nutrition (e.g., folic acid deficiency leading to spina bifida) Because these disorders manifest at birth, they are classified as congenital or developmental disorders, even though they are not inherited Provide examples of single-gene disorders.  What is the probability that a certain child will be affected by a single-gene disorder? The risk is calculated for each pregnancy based on the parents’ genotypes: Autosomal Recessive (both parents are carriers) 25% chance the child will be affected X-Linked Dominant (one affected parent) 50% chance the child will be a carrier Males and females can inherit the disorder 25% chance the child will be unaffected If the father is affected → all daughters will inherit the disorder, but no sons Autosomal Dominant (one affected parent) If the mother is affected → 50% of children 50% chance the child will inherit the disorder (both male and female) will inherit the No carriers—unaffected children do not pass it on disorder X-Linked Recessive (carrier mother, unaffected father) 50% chance of affected male children 50% chance of carrier female children Types of Genetic Disorders: Differences & Example Developmental Disorders / What does teratogenic mean? A developmental disorder Teratogenic refers to occurs when fetal agents that cause Drugs (e.g., development is disrupted damage to the embryo or thalidomide, alcohol, due to genetic or fetus, leading to birth some antibiotics) environmental factors. defects. These include: Example: Thalidomide was a drug once used for Environmental Infections (e.g., rubella, morning sickness but exposures (radiation, toxoplasmosis, syphilis) caused severe birth chemicals, heavy metals) defects, including missing limbs  How are these disorders or potential disorders diagnosed? Diagnosis can occur before or after birth using various methods: 1. Prenatal Testing Ultrasound – Detects structural abnormalities. Amniocentesis – Examines fetal cells in amniotic fluid for genetic conditions.- long needle in ma stomach, need to be careful to not nic fetal, use an ultrasound. Chorionic Villus Sampling (CVS) – Detects chromosomal disorders earlier than amniocentesis. Maternal Blood Tests (e.g., AFP, NIPT) – Screens for certain genetic conditions. Blood tests to detect abnormal enzymes or proteins (e.g., phenylketonuria). 2. Postnatal Testing Karyotyping to identify chromosomal anomalies Newborn Screening – Detects genetic/metabolic disorders like PKU. (e.g., Down syndrome). Genetic Testing – Confirms inherited conditions. Biochemical Tests – Identifies metabolic defects DNA analysis for detecting mutations in specific genes (e.g., Huntington’s disease). https://www.youtube.com/ watch?v=JTBg6hqeuTg What is the significance of twin studies? What have we learned? It has the same DNA and the nurteint, Identical twins. Nature vs nurture: they are placed in different home to look at this Nature is genetic and nurture is environment What is epigenetics? How does it work? (briefly and simply) How our environment can alter expressive genes It can turn off or on obesity genes Doing well and living good, you can change your genes Like family has problems with heart failure, you can turn it off by doing right and eating right When ma smokes through pregnancy, the The environment, smoking, medications, chemical will send a response acholic, lack of sleep, lack of exercise, anything that can trigger a chemical unbalance in the body The speaker Is the example of the agouti gene found in mice. This Jean creates a propensity for the mouse to become fat, yellow, and be susceptible to cancer and other diseases. If you think about your previous knowledge of genetics, then this would probably be considered a dominant Jean because if it’s there them to be a predictor of the mouses future, however. It can be turned off. The mouse does not have to become sick or fat or yellow. How does this happen? Does this translate to human genetics? Yes, because mammals have 90% shared DNA. We do have the same mechanism. What does she mean when she says that “the lifestyle choices you make today can still affect future generations”? Is this limited to women and their genetic effects on self-fulfilling offspring? She's trying to say we can change out lifestyle behaviors to change lifestyle behaviors. If you smoke when you are pregnant the ovaries carries cells and can affect future generations Can epigenetics affect us after we are born? yes Is epigenetic a self-fulfilling prophecy? In other words, if you have an epic genetic influence in your brain, that is not beneficial are you stuck with it? We don’t have to do what our gene says Challenge in the development of these drugs? Its in the bloodstream and the body knows where it goes, the problem is What can we do now to create positive epigenetic changes in our own bodies? Eat right, fix your life and do better and not stress as much Chapter 22  Please watch the summary of fetal development at https://www.youtube.com/watch?v=EhU OkTPW7L0  How is pregnancy diagnosed and described? Pregnancy is diagnosed through the detection of human chorionic gonadotropin (hCG) in the mother’s plasma or urine. This hormone, secreted by the chorionic villi after implantation, can be identified with enzyme-linked immunosorbent assay (ELISA)-based tests. Positive signs later in pregnancy include detection of the fetal heartbeat via auscultation or ultrasound, fetal movement by someone other than the mother, and visualization of the fetus through ultrasound. The estimated date of delivery (EDB) is calculated using Nägele’s rule, based on the first day of the last menstrual period (LMP).  Amniocentesis – Examines fetal cells in amniotic fluid for genetic conditions.- long needle in ma stomach, need to be careful to not nic fetal, use an ultrasound. Gravidity- Ultrasound safe,number no radiations of times a woman has Parotid is the number been pregnant. of live births Includes miscarriages What physiological changes occur during pregnancy? What is ectopic pregnancy and what is the danger to the woman? An ectopic pregnancy occurs when the fertilized egg implants outside the uterus, often in the fallopian tube. This condition is dangerous because the growing embryo can cause the tube to rupture, leading to internal bleeding, severe pain, and possible shock. Ectopic pregnancies are life-threatening and require immediate medical intervention. Pre-eclampsia and eclampsia or pregnancy- induced hypertension: Pre-eclampsia is a condition characterized by high blood pressure, proteinuria (protein in urine), and swelling during pregnancy, typically after the 20th week. If untreated, it can progress to eclampsia, which involves seizures and can be fatal to both the mother and fetus. It requires careful monitoring and management to prevent complications like organ damage or premature delivery Medical emergency, can have a stroke kidney failure Gestational Gestational diabetes is a type of diabetes diabetes that develops during pregnancy, where the body cannot produce enough insulin to meet the mellitus: increased needs. It can result in high blood sugar levels, which may lead to complications such as large birth weight, preterm birth, or fetal distress. Managing gestational diabetes includes monitoring blood sugar levels and modifying diet and exercise. Placental Placental disorders can include conditions such as placenta previa (where the placenta covers the cervix) disorders: placental abruption (where the placenta detaches from the uterus prematurely).- can have bleeding, need ultrasound to see Both conditions can lead to bleeding, preterm labor, and fetal distress, requiring medical intervention for the safety of both mother and child. Blood Blood clotting disorders during pregnancy can include conditions such clotting as deep vein thrombosis (DVT) or pulmonary embolism. disorders: Pregnancy increases the risk of these disorders due to hormonal changes that affect blood clotting. Women with such conditions require careful management to prevent complications like stroke, deep vein clots, or embolism.  DIC is a serious condition that involves abnormal DIC (Disseminated clotting throughout the body, leading to the formation Intravascular of small clots in blood vessels. Coagulation): These clots use up clotting factors, resulting in bleeding elsewhere. DIC can occur in pregnancy due to complications like placental abruption, pre-eclampsia, or infection. It requires immediate medical treatment to control bleeding and clotting. Happens in multiple places of the body, you don’t know it until it happens Rh Rh incompatibility occurs when a Rh-negative mother carries a Rh-positive baby. If fetal incompatibility: blood cells enter the mother’s bloodstream, her immune system may produce antibodies against the Rh-positive cells, which can harm the baby. This can lead to hemolytic disease of the newborn. The condition is typically managed with an injection of Rh immunoglobulin to prevent the mother from developing antibodies Chapter 23 https://www.youtube.com/watch?v=udtN yOd1T6E https://www.youtube.com/watch?v=wcX BQxmbjFY  Puberty increases the possibility of obesity in metabolic syndrome due to hormonal changes that affect What occurs at puberty that increases the metabolism and body possibility of obesity in metabolic syndrome in composition- deals with activity level adolescence? Decreases- like don’t being active such as : the increase in androgens and the physical changes of growth spurts. These changes can lead to a higher accumulation of body fat  What is metabolic syndrome? What is the cause? What are the results? Metabolic syndrome is a cluster of conditions that increase the risk of heart disease, stroke, and type 2 diabetes. Lifespan to be shorten It is caused by factors like obesity, insulin resistance, poor diet, lack of physical activity, and genetic predisposition. The results include an increased risk of cardiovascular diseases, diabetes, and other health issues related to insulin resistance and fat accumulation Three factors: -significant abdominal fat ( around the organs)- high risk in later life-0 causes in alteration in glucose and result in storage -Changes in glucose metabolism- insulin resistance -Changes in life of protein in metabolism What happens as the adolescent grows that impacts the musculoskeletal system? As adolescents grow, their bones and muscles undergo rapid development. Growth plates in Grow the bones expand, which can sometimes result in growing pains, especially in the legs. Muscle mass increases, and flexibility and coordination may fluctuate as the body adjusts to Muscle rapid growth Lead. These changes can lead to an increased risk of injury or musculoskeletal imbalances  Kyphosis is an abnormal curvature of the spine that leads to a hunchback or rounded upper back. In a younger person can be fixed. People hunch down to match because of peers “ too tall” girls hide breast Skeletal system doesn’t help to support What is Be reversed with exercise Lordosis is an exaggerated inward curve of the spine, often in the lower back. Pregnant woman can develop this abdominal fat would do the same thing to you kyphosis? Poor posture Lordosis? Scoliosis is a sideways curve of the spine, often in an “S” or “C” shape Thoracic or lumbar or both Scoliosis? Structural scoliosis – idiopathic (unknow cause). Female or more impacted Cognitional scolorios- development defect. More in females. Degenerative scoliosis- related to old age. Joints are degenerating functional scoliosis- end product of something else. Loss of alignment. Can cause multipy effects on the body Exercise and braces to fix it, but scoliosis can return  What is osteomyelitis? What causes it? What are the phases? Osteomyelitis is an infection in the bone, typically caused by bacteria, particularly Staphylococcus aureus. The phases include: The bone is impacted these bloodborne organisms can leave capillary and enter the bone causes infection Gets in the bone Bone is simulated  Describe juvenile rheumatoid arthritis. What is the difference between juvenile and adult rheumatoid arthritis? How is rheumatoid arthritis treated, and what do you know about the medications used? Juvenile rheumatoid arthritis (JRA) is an autoimmune disease-causing chronic inflammation in the joints of children. It differs from adult rheumatoid arthritis in that it often affects larger joints and has systemic effects. Treatment includes: Children are more acute, and adults are more chronic Nonsteroidal anti-inflammatory drugs (NSAIDs) for inflammation. Glucocorticoids for severe inflammation. Disease-modifying antirheumatic drugs (DMARDs) like methotrexate to slow disease progression. Physiotherapy to maintain joint function. The medication’s goal is to reduce inflammation, prevent joint damage, and manage symptoms  An eating What disorder is an eating isand disorder a condition involving abnormal eating habits that what are the major concerns, especially negatively affectin adolescence? physical health and emotional well-being. Major concerns include the impact on growth and development, nutrient deficiencies, and psychological issues such as distorted body image. In adolescence, eating disorders can also disrupt normal physical development. Differentiate between anorexia nervosa and bulimia nervosa. Anorexia nervosa is characterized by self- starvation and extreme weight loss, often due to a fear of gaining weight. It leads to severe malnutrition and has physical consequences like dry skin and brittle nails. Loss of good nutrients Bulimia nervosa involves binge eating followed by purging (vomiting or using laxatives). While weight may be normal, the individual may face issues like tooth enamel erosion, esophageal damage, and electrolyte imbalances- older adolescents females, only eat the food that makes them feel better but then vomit it out. Why is acne concerned in the adolescent years? Why is mononucleosis prevalent during adolescent years, and what are some of the concerns and complications associated with this disease? Mononucleosis is prevalent during adolescence because it is commonly transmitted through saliva, and adolescents are more likely to engage in behaviors that facilitate transmission (e.g., kissing). Complications include hepatitis, ruptured spleen, and meningitis. The most important concern is ensuring the spleen has returned to normal size before resuming sports or strenuous activity Why are some chromosomal disorders not diagnosed until adolescence? What are some examples? What are some of the menstrual abnormalities experienced by adolescent females? Chapter 24  Please view the video at https://www.youtube.com/watch?v=aLY4NTfAfcg to review the physiology of aging Hormonal Changes Change: Decreased levels of hormones such as estrogen, testosterone, and growth hormone. Impact: This can lead to changes such as reduced bone density (osteoporosis), decreased muscle mass, slowed metabolism, and changes in mood and cognitive function. In women, menopause results in vaginal dryness, hot flashes, and mood swings, while men may experience erectile dysfunction or reduced libido Reproductive System Changes Changes to the Skin and Mucosa Cardiovascular System Changes Change: Thickening of blood vessel walls, reduced elasticity of arteries, and decreased heart rate response to activity. Impact: This increases the risk of hypertension, reduced circulation, and heart disease. The heart has to work harder, and blood flow to organs and muscles may be less efficient Musculoskeletal System Changes Impact: Bones become more brittle and prone to Change: Loss of bone fractures, and muscles density, muscle mass, and weaken, making physical joint function. tasks more difficult. This results in a greater risk of falls and decreased mobility Respiratory System Changes Change: Decreased elasticity of lung tissue and weakened respiratory muscles. Impact: This leads to a reduced ability to take deep breaths, impaired cough reflex, and a higher risk of respiratory infections. It also makes it harder to clear mucus from the lungs, leading to a higher risk of pneumonia Nervous System Changes Change: Loss of neurons and decreased brain volume. Impact: Cognitive function may decline, affecting memory and processing speed. There may also be decreased reflexes and slower response times. Conditions like dementia or Alzheimer’s disease may develop due to the build-up of plaques in the brain Changes in the Digestive System and Nutrition Impact: Digestion becomes less efficient, leading to issues like Change: Reduced secretion of constipation and difficulty absorbing digestive enzymes, slower nutrients. Malnutrition can occur if metabolism, and reduced taste and appetite decreases, or there are smell. problems with swallowing. Reduced taste and smell can also lead to decreased appetite Urinary System Changes Impact: There’s a decrease in the kidneys’ ability to filter waste Change: Reduced kidney and maintain electrolyte balance. function, weaker bladder This can result in frequent muscles, and changes in bladder urination, nocturia, and capacity. incontinence. The risk of urinary tract infections (UTIs) also increases Why Are the Elderly Susceptible to Infections? Why Is Cancer More Common in the Elderly? Many Elderly Experience Multiple Disorders Simultaneously, What Does This Mean for Care and Treatment?