WordPress.com



Clinical Guide – Chapters 1-6, 7, 8A, 8B, 9, & 10Familial Hypercholesterolemia-An inherited genetic disorder that leads to an accumulation of cholesterol in the bloodstream. The problem lies in the defective cell-surface LDL (Low-density lipoprotein, which binds cholesterol in the blood for cellular uptake) receptors, which inhibits cholesterol from being able to leave the blood. Over time, this can lead to Atherosclerosis beneath the endothelial layer of the blood vessel walls which can create obstructions and/or closures of the affected blood vessel, resulting in decreased blood supply to the affected area. Some common conditions associated with Hypercholesterolemia are Ischemia, Stroke, Heart attack, and Heart Disease. For example, if the Coronary arteries, which carry oxygenated blood to the myocardium, have any obstruction or closure due to Atherosclerosis, it may lead to Myocardial Infarction and/or Cardiac Disease. Tay-Sachs Disease-A fatal autosomal recessive genetic disease characterized by disordered lipid storage, where harmful quantities of Ganglioside GM2, a fatty substance (a glycosphingolipid + sialic acid + sugar chains) that accumulates in nervous tissues and nerve cells of the brain and spinal cord (CNS). Infants lacking a specific Lysosomal enzyme (β-hexosaminidase A) cannot degrade Ganglioside GM2, so it accumulates in toxic amounts within neurons and causes damage, resulting in disordered mental development, blindness, hearing loss, and limb spasms. Death follows quickly, about 1.5 years after birth. Tay-Sachs usually starts to present when the affected infant loses the ability to turn over, sit or crawl at around 3-6 months of age. Gaucher’s Disease (Type 1, 2, &3)-A genetic disorder causing a lack of expression in a gene that codes for Glucocerebrosidase enzyme. A deficiency of this enzyme can result in the accumulation of harmful substances in the organs (including the Liver, Spleen, Bones (and marrow), Lungs, CNS)-The accumulation of these toxic substances causes damage and disordered function in tissues and organs. There are 3 subtypes: >Type 1: Most common but does NOT affect the Central Nervous System (CNS, includes brain and spinal cord). Symptoms and presentation vary among patients but can include bone disease and pain, anemia (low red blood cell count), an enlarged spleen and liver (Hepatosplenomegaly), and Thrombocytopenia (low blood platelet count) which can cause easy bruising. Type 1 affects both children and adults. >Type 2: Typically affects infants and involves severe degradation of the CNS. This form presents with most of the above listed symptoms, and in addition can include abnormal eye twitching, seizures and progressive brain damage that can lead to rapid, early death. >Type 3: Causes the same symptoms listed in Type 1 with some additional effects on the CNS. Patients may live into adulthood since the progression of brain and spinal cord damage occurs much more slowly than in Type 2.-Symptoms: Vary and depend on type, but include bone pain & fractures, enlarged spleen, enlarged liver, lung disease, seizuresAneuploidy-An abnormal number of chromosomes caused by abnormal disjunction in Meiosis II, resulting in genetic disorders.Down Syndrome (Trisomy 21)-Results from a Trisomy on chromosome 21 and can be related to the mother’s age at the time of conception. Bone development is affected, resulting in a shorter stature than average, and a smaller skull and eyes. The Central Nervous System (CNS) is also affected, resulting in disordered mental development, sensory issues, lower than average IQ (in some cases), disordered speech, large tongue, and difficulties with socializing. Individuals with Down Syndrome are not always infertile.Klinefelter Syndrome (Trisomy XXY)-A form of intersexuality where the individual has a sex chromosome XXY trisomy and male external genitalia, but may also have a uterus and fallopian tubes, smaller than average testicles, longer legs, breasts, wide rounded hips and narrow shoulders with little or no hair growth on the face and chest. Patient cannot reproduce normally. This can be caused by active increased female hormones like estrogen, which leads to the formation of female secondary sex characteristics or can be caused by a deficiency of Anti-Müllerian Hormone, which inhibits paramesonephric ducts from becoming the female reproductive organs. Deficiency of testosterone and an extra X chromosome causes feminization of the body, but external genitals are male.Turner Syndrome (Monosomy XO)-Intersexuality caused by Monosomy of the sex chromosomes, where only one X chromosome is expressed. The patient presents as female, but will not experience menstruation, and will achieve puberty later in life than average. This disorder is characterized by disordered mental development, short stature, weak jaw development, osteoporosis, scoliosis, cardiovascular disorder, and disorders of the sensory organs connected to the brain (ears, eyes) resulting in deafness and blindness.Marfan Syndrome-An autosomal dominant genetic defect of chromosome 15 that results in excessive synthesis of Fibrilin-1 protein, which is necessary for the production of the elastic fibers in connective tissue. The presentation of Marfan Syndrome may vary by patient and the specific tissues affected, but is typically characterized by abnormally long limbs compared to their torso, long thin fingers and toes, taller than average height, cardiovascular abnormalities including an enlarged heart (Cardiomegaly), enlarged aortic vessels (which makes them weaker and can be fatal), thicker Myocardial muscle (which can blood volume output), Lung weakness (vulnerable to collapse), and issues with vision (nearsightedness, glaucoma, early cataract formation). Ehlers-Danlos Syndrome-A condition resulting from a host of genetic connective tissue disorders, typically caused by the mutation of a gene involved in the synthesis of Collagen Type I & Type III. This mutation results in the excessive synthesis of Collagen I & III, causing extreme elasticity of the skin & joints. >Symptoms: fragile tissues, loose and unstable joints that may dislocate frequently, joint and musculo-skeletal pain, fragile skin that is vulnerable to severe bruising and tearing, slow would healing and excessive scar tissue formation, scoliosis and poor muscle tone. Can affect the heart and blood vessels. Symptoms and severity vary by patient.Hyperglycemia-Normal blood glucose is 70-110mg/dL, symptoms occur above 120 mg/dL, and irreversible damage occurs around 350 mg/dL. Hyperglycemia can increase Insulin production even though it can be caused by an Insulin deficiency/Insulin receptor damage. >Symptoms: -Vasculopathy: destruction of blood vessels which can lead to local bleeding, obstruction of blood vessels, hypertension, and obstructed circulation to organs and tissues. Atherosclerosis can occur, as well as heart disease, Renal failure, and decreased nutrient absorption in GI. -Neuropathy: can damage neuron cells when glucose can’t enter cells, damages the ANS, CNS, and PNS, optic nerves (blindness), Brachial plexus and Lumbosacral plexus damage (motor and sensory disorders in the upper & lower limbs, and difficulties with defecation & urination). -Glucosuria: destroys Nephrons because they can’t reabsorb the excess glucose, resulting in excess glucose in the urine, increased osmotic pressure in filtration tubes (because Nephrons are attempting to dilute the glucose in the urine). This can later result in Polyuria and Proteinuria. -Polyuria: Dehydrates the body in an attempt to dilute the urine, associated with frequent urination, Hypotension, decreased blood volume, decreased Renal filtration (leading to Hypertension), and Renal failure. -Proteinuria: tissue damage in Nephrons caused by glucose results in proteins filtering into the Nephrons and into the urine. -other symptoms: anxiety, nosebleeds, sleep disorders, dehydration, GI and respiratory issues.Hypoglycemia-blood glucose concentration below 50-60 mg/dL, can cause CNS coma, confusion, heart palpitations, tremors, anxiety, sweating, hunger, nausea, vomiting, blurred vision, headache, irritability, fatigue, dry mouth. >Treatment: Glucagon injection, increased sugar in the diet.Myasthenia Gravis-An auto-immune disease where antibodies can recognize and bind Acetylcholine receptors on the post-synaptic membrane of muscle cells. This blocks Acetylcholine from binding at its receptors and inhibits its signal from reaching the target muscle cell. Inhibition of Acetylcholine results in inhibited muscle contractions and muscle weakness. >Symptoms: any involved muscle will be fatigued and weak, resulting in drooping arms, weak legs, difficulties with speech, swallowing and fine motor control, shortness of breath and dizziness, drooping facial muscles >Treatment: Acetylcholinesterase (AchE) inhibitors, such as Neostigmine or Hemicholinium, block the degradation of Acetylcholine for reabsorption into the neuron so that it stays in the synaptic cleft for a longer period of time and allows the remaining unblocked receptors to bind enough Acetylcholine for a stronger muscle cell stimulus. Pheochromocytoma-A tumor of the Adrenal Medulla (part of the adrenal gland above the kidneys that secretes hormones) that secretes excessive amounts of Catecholamines (Nor/Epinephrine, Nor/Adrenaline, dopamine) and excess 3-methoxy-4-hydroxy-mandelic acid (VMA), which is used in Urinary metabolism of these Catecholamines. >Symptoms: Hypertension, High blood pressure, severe headaches, nausea, vomiting, sweating, rapid/increased heart rate, palpitations, tachycardia, nosebleeds, anxiety, dizziness, sleep disorders, shortness of breath, fatigue, weight loss, muscle spasms >Treatment: Adrenalectomy (surgical removal of adrenal gland), Atenolol or Propranolol (β1-blockers), Prazosin (α1-blocker), blood pressure medication and dietary changes, Hormone Replacement Therapy.Parkinson’s Disease-A dopamine deficiency due to the lack of secretion by the Substantia Negra (black substance) in the brainstem, which is involved in the control of movement. Nervous damage causes a drop in the synthesis of dopamine. Symptoms include tremors, stiffness, slow movement, motor issues, loss of balance, involuntary movement, muscle rigidity and contractions, disordered sleep, speech impairments, anxiety, and fatigue. Treatments include L-dopa, a precursor to dopamine which can cross the Blood Brain Barrier to help synthesize new dopamine (dopamine cannot cross the Blood Brain Barrier and must be synthesized within it, after L-dopa crosses over). Anesthetics block synaptic transmission and nerve conduction to alleviate some involuntary movements and wild neural firings.Schizophrenia-A condition caused by an excess of dopamine secreted by the Substantia Negra of the brain stem resulting in symptoms such as delusion, amnesia, confusion and disorientation, isolation, disorganization, mood swings, speech disorders (characterized with rapid frenzied speech), fatigue, and a lack of motor coordination. There is no cure, but symptoms can be managed with lifelong medication and therapy. Cystic Fibrosis-A genetic disease marked by a mutation of the gene that codes for CFTR (Cystic Fibrosis Transmembrane Regulator), a plasma membrane glycoprotein that acts as a Cl- ion channel embedded in the apical membrane (outward facing surface) of the epithelial cell layer of the affected organ’s lumen. The specific defect in the gene causes Cl- to be pumped out of the cell in large amounts with no way back into the cell, which causes an intracellular ion imbalance that results in compensatory excretion of Na+ ions out of the cell. This forms NaCl in the lumen, a Hyperosmotic environment that then pulls H2O from the cells to balance out the salt concentration. This attracts white blood cells to induce local inflammation. In the outer-membrane tissues of the sweat glands, lungs, pancreas, GI tract, spermatic chord, and ovaries where CFTR lines their lumen-facing surface, excessive amounts of thick mucous is produced in response to the swelling and inflammation, which can obstruct the lumen and cause disorders in the affected tissue/organ.-Symptoms: >Spermatic Cord or Ovaries: infertility; in females specifically this can result in irregular menstruation and ovulation. >Pancreatic lumen: pancreatitis, which can cause a deficiency of pancreatic endocrine products (Insulin and Glucagon), and deficiency of pancreatic exocrine products (digestive enzymes lipase, amylase, and protease), which results in maldigestion and malabsorption of nutrients, and a lack of glucose absorption by cells. >Respiratory System: obstruction and inflammation of bronchial airway, frequent respiratory infections, productive cough. If the inflammation and mucous production is severe enough in newborns it can be fatal. >GI Tract: inflammation in the lumen of the small or large intestine can cause abdominal pain, vomiting, nausea, maldigestion and malabsorption of nutrients, severe diarrhea which can lead to dehydration and electrolyte imbalance (Na+, Cl-, K+, Ca2+)-Treatment: the only option is to manage symptoms with synthetic steroid Cortisol to suppress inflammationEdema-A condition characterized by fluid retention (swelling) in tissue of a localized area. Fluid can build up inside the cells and interstitial space due to injury, inflammation, or infection. Edema can compress and destroy the cells causing tissue damage and disordered function of the tissue or organ affected.-Causes: >A reduction in the concentration of Albumin protein in the blood plasma (osmotic imbalance) >Localized destruction of capillaries as a result of trauma, congenital disorder, or genetic condition >Localized destruction of lymphatic vessels, which then leak lymph fluid into the interstitial spaceGalactosemia-An autosomal recessive genetic disorder characterized by a deficiency of the galactose-1-phosphate uridyltransferase enzyme, which is responsible for the degradation and absorption of galactose sugar from lactose. The lack of enzyme results in a toxic accumulation of galactose in the GI tract, which causes diarrhea, severe dehydration, malabsorption of Na+ and Ca2+ electrolytes (muscle weakness, fatigue), inflammation and damage in the Liver, Renal failure, infertility and ovarian failure, developmental disorders, and cataract formation in the eyes. Avoidance of dairy products (lactose) and sources of galactose is best for this patient.Marasmus-A condition of severe malnutrition caused by a lack of protein and low calories in the diet over a long period of time. Marasmus presents with a severely reduced body weight with loss of adipose tissue in locations where larger fat deposits typically are (hips and thighs), lack of energy, easily fatigued, loose folds of skin over the buttocks and underarms, weakened immune system, dry and/or peeling skin, irritable behavior, hair presenting with a “flag sign” (strips of hair lacking pigment), severe diarrhea, dehydration, stunted growth in children, and loss of muscle tone and mass. Cachexia (wasting syndrome) is typically associated with Marasmus, as it is associated with severe weight loss, muscle atrophy, loss of appetite and fatigue. >Treatment: we can attempt to balance the patient’s electrolytes to support cellular activity and recommend a specialized diet administered carefully over time to avoid Refeeding Syndrome (feeding too quickly can fatally overwhelm the body with metabolic activity).-Kwashiorkor: a separate condition that often presents in Marasmus, it more specifically relates to severe malnutrition due to a lack of protein in the diet while caloric intake is normal or near normal. >Symptoms: Edema (fluid retention) in the GI tract due to the osmotic imbalance caused by a lack of protein to digest, a fatty and enlarged Liver, which both contribute to a distended abdomen, or “pot-belly” appearance even though the patient’s limbs will be very thin. Swelling and localized edema in the feet and ankles, hair loss, skin dermatitis and loss of pigment, and loss of teeth are also common signs.Atherosclerosis -the accumulation of cholesterol/fat/lipids (with connective tissue composed of collagen and elastic fibers, smooth muscle cells, Calcium deposits, and some inflammatory cells like Macrophages and T-cells) as “intimal plaques” or “atheroma” under the endothelial layer of blood vessel walls of the medium and large arteries, which can attract and accumulate Ca2+, causing calcification (hardening) of the blood vessel walls. Calcification can weaken blood vessels, making them susceptible to rupture, resulting in localized internal bleeding. If it doesn’t rupture, it may obstruct the blood vessel over time. Hypercholesterolemia (lipid disorder), smoking, & drinking can increase the risk of developing Atherosclerosis, which increases the risk of Myocardial Infarction or stroke. Thyroid issues can also cause Atherosclerosis, as the Parathyroid can secrete Parathyroid Hormone (PTH) in excess, causing Hypercalcemia (which puts large amounts of Ca2+ in contact with any developing plaque formations). The accumulation of fatty plaque under the endothelial lay activates growth factors involved in cell proliferation & cell growth, attracts white blood cells (like Neutrophils) that cause local inflammation, and creates an accumulation site for Ca2+. Common arteries affected include the coronary arteries, carotid artery, cerebral arteries, the aorta and its branches, and the major arteries located in the limbs. If condition worsens it may result in Stroke, muscle damage, blood vessel damage, organ damage >Causes: Diabetes, chronic cigarette use, familial predisposition, Hypercholesterolemia or Hyperlipidemia (also known as Dyslipidemia), sedentary lifestyle, obesity, and hypertension. >Symptoms: “tight” feeling chest pains, and shortness of breath. The obstruction of arteries can cause Angina, a deficiency in blood flow and supply, which can also cause pain.Ketosis/Ketoacidosis-A condition that can occur as a result of Diabetes (Type I, typically) or a prolonged diet lacking in carbohydrates (includes glucose), where the body compensates for the lack of metabolic glucose by instead metabolizing fatty acids from fat and destroyed muscle cells for energy, a process called Ketogenesis that results in acidic by-products called ketone bodies (acetoacetate, acetone, and β-hydroxybutyrate [a carboxylic acid]). Ketosis occurs when large amounts of ketone bodies are produced in an attempt to fuel the body when it is lacking in glucose (or unable to utilize glucose), but excessive amount of ketone bodies can result in Ketoacidosis, a harmful condition where the pH of the blood drops as ketone bodies accumulate and acidify the body’s tissues. Normally ketone bodies can be filtered out through the Renal system to urine (Ketonuria), and acetone can be released through respiration (resulting in a fruity scent on the breath) but excessive amounts of ketone bodies and lack of treatment can’t efficiently filter ketone bodies out of the body in large enough amounts, and the accumulation begins to cause damage. >Symptoms: Frequent urination, increased feeling of thirst and dehydration, sweet fruity breath and heavy labored breathing, nausea and vomiting, dizziness and confusion as acidic ketone bodies build up in Central Nervous System (CNS) tissue which can ultimately lead to a CNS coma, and death >Treatment: If the cause of Ketosis is Diabetes Type I, then we can administer insulin to support intracellular uptake of glucose. We can also administer an IV drip of saline solution or, in more severe cases of Ketoacidosis, an IV drip of sodium bicarbonate solution to buffer the blood back to a more neutral pH.Diabetes Mellitus (includes all types of diabetes)-Type I Diabetes: An autoimmune disease where antibodies destroy Pancreatic β-cells (which produce insulin) which results in the insulin deficiency characteristic of Type I Diabetes. Since Insulin is important for intracellular uptake of glucose, the Insulin deficiency leads to Hyperglycemia (given there is no issue with glucose reabsorption from GI). Over time, Hyperglycemia destroys blood vessel walls (vasculopathy), resulting in tissue damage, Atherosclerosis, and local bleeding in any affected areas: >in Cardiac tissue it can cause Heart disease, which can lead to myocardial infarction >in Renal tissue it can lead to Nephropathy, hypertension, and Renal failure >in nervous tissue it can lead to Neuropathy/Polyneuropathy in the central (CNS), peripheral (PNS), and autonomic (ANS) nervous systems. Neurons starve because they can’t uptake/utilize glucose, which causes nervous tissue destruction. This can lead to Optic Nerve (CN II) damage which leaves the patient at risk for blindness, and peripheral nerve damage in the Lumbosacral Plexus or Brachial Plexus may lead to motor or sensory disorders. -If blood glucose levels rise above 300 mg/dl, patient can also develop Glucosuria (glucose in urine). Glucose in the urine increases osmotic pressure in nephron filtration tubes, causing the tubes to absorb more H2O, leading to Polyuria (frequent urination). Polyuria can decrease blood pressure and blood volume as it dehydrates the patient, causing extreme thirst (Polydipsia). Over time the glucose destroys tissue (Nephropathy) and leads to decreased Renal Filtration Rates, Hypertension, and Edema.-Ketoacidosis can also develop in patients as the body breaks down fatty acids into acidic ketone bodies as alternative fuel generation (in the absence of intracellular glucose), resulting in decreased pH in the blood (acidic blood). This can cause ketonuria (ketone bodies in the urine) and a CNS coma. >Treatment: periodic insulin injection (intravenous or subdermal), no oral insulin supplementation because insulin protein is degraded in the GI. Insulin introduced into the bloodstream allows cells to uptake glucose for consumption, and as a result blood pH should increase back to neutral pH (as the cells stop generating ketone bodies in favor of glucose). Weight loos and dietary changes are recommended to relieve symptoms.-Type II Diabetes: cause is genetic, a defect in the cell-surface Insulin receptor structure that makes it resistant to Insulin binding, meaning its ability to uptake glucose is compromised. Symptoms are similar, but the treatment is different. >Treatment: Exercise and dietary changes are recommended (avoidance of carbohydrates & sugars). Metformin medication decreases blood glucose levels by prolonging Insulin receptor’s exposure to Insulin hormone, which increases the chance Insulin with bind to any remaining functional receptors (facilitates cellular glucose absorption this way).-Steroid Diabetes: NOT caused by Insulin, but instead caused by excess Cortisol, which normally maintains and increases blood glucose levels, so an excessive amount causes Hyperglycemia. -Insipidus Diabetes (Type III): A deficiency in ADH causes disordered salt and water metabolism, resulting in Polyuria (frequent urination) and Polydipsia (extreme thirst) and dehydration, not associated with glucose.-Gestational Diabetes: Occurs as a result of Pregnancy and is normally temporary. This condition mimics Type II, where Insulin receptors become resistant to binding insulin, but it’s not as severe. Light exercise and dietary changes are recommended for the duration of the pregnancy. More frequent check-ups for both mother and fetus with a physician and temporary blood glucose monitor is also recommended.Ischemia-A condition characterized by tissue damage as a result of a lack of blood-flow, and therefore a lack of oxygen being delivered to the tissue for cellular aerobic respiration. A lack of blood-flow can be due to vasoconstriction, blood vessel obstruction (clot or atherosclerosis), or blood vessel damage. Ischemic tissues begin to compensate with anaerobic respiration, and the resulting lactic acid by-product causes a feeling of soreness and pain in the affected tissue. Ischemic tissue is also starved of nutrients usually delivered by the blood, and over time cells will accumulate metabolic waste due that would normally be filtered out to the blood, both of these factors also contribute to cell death and tissue damage. IF the restriction of blood flow is severe enough it can lead to localized paresthesia, paralysis and tissue necrosis in a short amount in time. In the heart, myocardial ischemia can lead to chest pains (angina pectoris), infarction, and long-term heart disease.PheochromocytomaA tumor of the Adrenal Medulla (part of the adrenal gland above the kidneys that secretes hormones) that secretes excessive amounts of Catecholamines (Nor/Epinephrine, Nor/Adrenaline, dopamine) and excess 3-methoxy-4-hydroxy-mandelic acid (VMA), which is used in Urinary metabolism of these Catecholamines. >Symptoms: Hypertension, High blood pressure, severe headaches, nausea, vomiting, sweating, rapid/increased heart rate, palpitations, nosebleeds, anxiety, dizziness, sleep disorders, shortness of breath, fatigue, weight loos. >Treatment: Adrenalectomy (surgical removal of adrenal gland), Atenolol, Propranolol, Prazosin-Tongue Disorders-AgeusiaThe loss of taste sense due to damage of the Facial nerve (CN VII) branch Chorda-tympani, or Glossopharyngeal nerve (CN IX) can also be caused by irritation and damage to taste receptors by chemicals or by damage to the taste center in the brain. >Hypogeusia: decreased taste sensitivity >Hypergeusia: increased taste sensitivitySore Tongue Soreness or irritation of the muscle caused by trauma (induced by biting, or by eating/drinking too-hot or highly acidic things). Trauma is more commonly caused by biting if your teeth don't fit together properly (under-bite or over-bite), or if you grind your teeth. Other causes include diabetes, anemia, vitamin deficiencies, and some skin diseases.Glossodynia “Burning mouth syndrome”, a disorder characterized by a burning sensation on the tongue. This may be a symptom of post-menopause, autoimmune disease, depression, anxiety, low grade tissue trauma, chemical substance irritation, vitamin/mineral deficiencies, or type 2 diabetes.Benign Migratory Glossitis “Geographic Tongue”, A condition characterized by irregular, inflamed and irritated red patches on the tongue surrounded by a white ring. The tongue may be swollen or sore, and patches may change location/size/shape. The cause is unknown, and treatment usually includes an increase in hygienic rinsing frequency.Bell’s Palsy A condition characterized by sudden weakness of the muscles on one half of the face. The patient may be experiencing inner ear pain, drooling and drooping on one side of the face, sound sensitivity, and taste abnormalities. This is caused by paralysis of the Facial nerve (CN VII) branch Chorda-tympani, due to damage or irritation, but this usually resolves itself within 6 months. Chorda-tympani innervates the anterior 2/3rd of the tongue so damage keeps the receptors from relaying taste sensory information to the taste center of the brain (Postcentral Gyrus). Treatment includes physical therapy or prednisone (a synthetic glucocorticoid-type of anti-inflammatory). -Olfactory Disorders-Anosmia The loss of the sense of smell caused by inflammation of nasal mucosa, blockage of nasal passage ways, or neurological destruction (due to damage to the temporal lobe, chronic meningitis, damage to Olfactory nerve (CN I), or damage to the Olfactory bulb). Cause may be congenital, an early sign of Parkinson's, Alzheimer's, or a psychological or endocrine condition.Phantosmia The phenomenon of smelling odors that are not present. This could be caused by olfactory hallucinations and may be a symptom indicating Schizophrenia, Parkinson's, or Neuroblastoma (cancerous growth originating from neuroblast cells). Treatment involves drug therapy, brain stimulation, or surgical removal of the olfactory bulbs or olfactory epithelium.Dysosmia A disorder that distorts the perception of smell, so things smell differently than they should. Likely caused by a neurological disorder due to from head trauma or sinus disease. Condition may go away on its own over time, or it can be treated with nasal drops (to block airflow to the olfactory cleft), sedatives, or surgery to remove olfactory epithelium.-Ocular Disorders-Color blindness A condition characterized by the deficiency of color perception in cone cells (some or all colors). Usually the cause is genetic, but it can be due to damage to the eye, optic nerve, or brain damage (via trauma, exposure to chemicals, or disease). There is no known treatment.Night blindness “Nyctalopia” Poor vision at night or in dim lighting, where the patient cannot distinguish shades of gray, meaning there is an issue with light perception in the rod cells. The cause may be congenital or due to retinal damage, malnutrition (vitamin A deficiency), cataracts, or near sightedness. The most common cause is Retinitis Pigmentosa (where the rod cells in the retina lose the ability to respond to light due to Rhodopsin deficiency). Treatment includes vitamin A supplements for those with the deficiency (vit. A is a precursor for Rhodopsin). If left untreated, vision can degrade enough to affect daytime vision and begin total vision loss.Glaucoma A group of eye conditions that can lead to blindness due to inter-cranial pressure. An obstruction of the eyes’ venous system connection to the internal environment of the eye (Canal of Schlemm, which drains intra-ocular fluid from the eye), causes an accumulation of intra-ocular fluid inside the eye. When this fluid is in excess it can compress the tissues of the retina and the internal ocular structures. If left untreated it can damage the retina, lens, and optic nerve, resulting in blindness. The cause may be genetically based, or due to a tumor, trauma, or infection. Symptoms include blurred or distorted vision, vision loss, and ocular pressure. Treatment may involve eye drops, laser surgery (Trabeculoplasty, opens drainage of trabecular meshwork).Visual AgnosiaThe inability of the brain to perceive and recognize visual stimulus (such as familiar objects or faces). This can be due to brain damage of the visual association cortex, damage in the occipital lobe, or damage in the temporal lobe. -Ocular Disorders affecting how light hits the Retina-Emmetropia: Light hits the retina without issue, functions normallyHypertrophia: Causes far-sightedness, light hits behind the retina and must be corrected with a convex lensMyopia: Causes near-sightedness, light hits in front of the retina and must be corrected with a concave lensAstigmatism: Curvature of the lens is not uniform and can cause blurry vision and double-vision, must be corrected with a cylindrical lens-Auditory Disorders-Otitis Media Infection and inflammation of the middle ear segment, associated with a build-up of fluid behind the ear drum, causing an ear ache. This can result from bacterial or viral infections in the fluid. Treatment with antibiotics is necessary, if left untreated it can progress into Bacterial Meningitis. Infection can cause inflammation of the tissue in the Eustachian tube, which results in negative pressure in a vacuum that accumulates fluid. Common pathogens involved in this condition include Streptococcus, Influenza, and the common cold. Symptoms include vertigo, nausea, ear pain, fever, and headaches. >Symptoms of Bacterial Meningitis: severe headaches, vomiting and nausea, vision problems, vertigo, disordered motor control, disordered sensory reception, coma.-Vestibular Disorders-Nystagmus Abnormal eye movement caused by stimulus of semi-circular canals of the Vestibular System during rotation of the head. Seen as rapid “dancing” eye movement in the same direction as head rotation as opposed to the normal slow movement of eyes in the opposite direction of head movement (to maintain visual fixation). Causes may be congenital (due to a pre-existing neurological disorder), hormonal, nerve damage from head trauma, a tumor, bacterial/viral infection, or an auto-immune condition. If the cause is due to nerve damage, it would affect Cranial nerves III (Oculomotor), IV (Trochlear), and VI (Abducens), which innervate the extra ocular muscles for eye movement.Post-Rotatory Nystagmus Characterized by eye movement in the opposite direction of head rotation BUT once rotation stops the eyes follow slowly towards the same direction. This is normal eye movement.Vertigo A recurring feeling of dizziness and loss of balance associated with problems of the inner ear Vestibular Systems (balancing mechanism), issues in the cerebellum, or issues with neural connections between these two areas. Other causes include high/low blood pressure, Hypoglycemia (may or may not be associated with Type 1 Diabetes), Hypercholesterolemia or Hypocholesterolemia (as a result of excessive Lipitor dosage taken to treat Hyper), Dehydration, ADH (Antidiuretic Hormone) Deficiency, or Pregnancy.-Neurological Disorders-Gliosis (and glial scarring) Hyperplasia (enlargement due to increased cell proliferation) or Hypertrophy (enlargement of cell size) of glial cells that occurs in reaction to damage to the CNS. Oligodendrocytes respond to the CNS damage by filling the area with cytoplasm, then Astrocytes proliferate to fill the damaged area (keeping the damaged axons/brain tissue from regenerating) and form glial scar tissue. Neuroglial Tumors (Glioma): Make up 50% of intercranial tumors. >Astrocytomas & Glioblastomas: are tumors of Astrocytes, which cause the following symptoms: headaches, seizures, memory loss, & behavioral changes. The tumors are very invasive and grow large but have minimal effect on neighboring neurons (meaning they are unlikely to metastasize to nearby neurons). Treatment typically involves surgical removal of tissue, chemo therapy, and radiation. >Ependymoma: a tumor of the Ependyma cells that line the ventricles of the brain and the central canal of the spinal cord. Symptoms include irritability, sleeplessness, vomiting, nausea, and headaches. These tumors are not as invasive and grow slowly. The area is typically treated with radiation after surgical removal of the tumor.Multiple Sclerosis (M.S., demyelinating disease in CNS) A disease in which the immune system degrades the protective myelin sheath of nerves. It usually begins around the ages of 20-40 and starts degenerating the optic nerves, spinal cord, and cerebellum first. Axons degenerate due the loss of their myelin sheath, resulting in a loss of action potential signals. This causes vision loss, pain, fatigue, impaired coordination, tremors, motor issues with movement, walking, muscle cramps and involuntary movement, Vertigo, anxiety, mood swings, impaired speech, sexual dysfunction, and diaphragm paralysis. There is no cure and the symptoms can only be partially managed with physical therapy and steroids.-Muscular Disorders-Duchenne Muscular Dystrophy A heritable degenerative muscle disease that is typically diagnosed in male adolescents around 2-10 years of age. This sex-linked genetic defect causes a deficiency of dystrophin submembrane protein, which is important for the structure and contractile ability of muscles. This deficiency causes muscle fibers to degenerate and the affected muscles will enlarge with fat and connective tissue instead. The loss of muscle fiber will cause dystrophy and muscle weakness, resulting in symptoms such as frequent falling, trouble getting up, waddling gait, big calves, learning disabilities, shortening of muscles and muscle weakness, fatigue, scoliosis, walking on tip toes, and difficulties standing or swallowing. Since there is no cure, treatments including Prednisone (anti-inflammatory steroid), and occupational/physical therapy only target symptom management.Myotonic Dystrophy A heritable genetic defect of chromosome 19 that causes muscular dystrophy via Myotonia (prolonged muscle contractions that have decreasing ability to relax). This affects the tonicity (tone) of the muscles as they weaken and atrophy. Symptoms include slurred speech, locked jaw, mental deficiencies, abnormal heart rhythm, hair loss, cataracts, infertility in men, and issues breathing during sleep (sleep apnea). This is commonly observed in young adulthood but can develop at any age and in any variation of symptom severity. Chromosome 19 codes for a protein kinase found in the skeletal muscle that has some regulatory effect on the structure of skeletal muscle.-Neurotransmitter Disorders-Parkinson’s A dopamine deficiency due to the lack of secretion by the Substantia Negra (black substance) in the brainstem, which is involved in the control of movement. Nervous damage causes a drop in the synthesis of dopamine. Symptoms include tremors, stiffness, slow movement, motor issues, loss of balance, involuntary movement, muscle rigidity and contractions, disordered sleep, speech impairments, anxiety, and fatigue. Treatments include L-dopa, a precursor to dopamine which can cross the Blood Brain Barrier to help synthesize new dopamine (dopamine cannot cross the Blood Brain Barrier and must be synthesized within it, after L-dopa crosses over). Anesthetics block synaptic transmission and nerve conduction to alleviate some involuntary movements and wild neural firings.Schizophrenia A condition caused by an excess of dopamine secreted by the Substantia Negra of the brain stem resulting in symptoms such as delusion, amnesia, confusion and disorientation, isolation, disorganization, mood swings, speech disorders (characterized with rapid frenzied speech), fatigue, and a lack of motor coordination. There is no cure, but symptoms can be managed with lifelong medication and therapy. ................
................

In order to avoid copyright disputes, this page is only a partial summary.

Google Online Preview   Download