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29 Cards in this Set
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: Connective tissue disease with fractured bones and little trauma. Shorter stature, broken bones early in life, blue sclera. (Couldn't be Type II since it is the most severe causing death in the first year or stillbirths
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Osteogenesis imperfecta type III
: mutation of Type I collagen genes (COL1A1, COL1A2). Collagen type I forms collagen fibrils and mutation causes weakening of bones (brittle bone disease) due to disruption of Gly-X-Y sequence (triple helix) genetic test for collagen gene mutation (COL1A1, COL1A2); X-Ray, hearing loss, broken bones secondary to minor trauma |
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: personality changes, anxiety, depression, memory loss, impaired thinking, impaired muscle coordination, blurred vision, insomnia, speech impairment, withdraw from friends/family, lose ability to relate/recognize as well as care for self, may slip into coma. Long incubation, but once symptoms appear- rapid mental decline; duration ~7 months, fatal (death within 1 year).
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Mad Cow Disease
Prions-Infectious prion (PrPsc) transforms normal prions (PrPc) into infectious type which propagate. The infectious prions aggregate to form plaques- causes neural cell death. : neurological tests (MRI, EEG), spinal fluid test, confirmation by postmortem brain examination. |
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50-year-old man with crushing chest pain is rushed to the ER
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Lab Tests for MI – Troponin, Creatine Kinase-MB, Lactic acid DeHydrogenase
TPA (tissue plasminogen activator) can be given if MI caught early The diagnostic criteria includes History of ischemia chest pain type ECG changes Increase/decrease biomarkers Cold, pale skin Low fever Irregular pulse |
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An infant with low weight gain and growth in height. He has N-acetylglucosamine
phosphotransferase deficiency. |
I-cell disease – can’t get enzymes to lysosomes properly
I cell disease is caused by the defective Glc-NAc-phosphotransferase enzyme (also known as N-acetlyglucosamine phosphotransferase). Total hexosaminidase enzyme is measured in serum. The activity is elevated activity in patient with I-cell disease . Treatable by injecting enzymes with the mannose-6-phosphate on them |
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A severely burned patient in ICU is treated with antibiotics for infections
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upregulation of C-reactive protein, upregulation of clotting and complement proteins, downregulation of the production of albumin by the liver. On serum electrophoresis, albumin band goes down, alpha1 and alpha2 bands become more intense.
phenylalanine, tryptophan, threonine, methionine, valine, leucine, isoleucine lysine |
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A terminally ill patient relies on parental nutritional support. Its nutritional status in protein.
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Pre-albumin, C-reactive protein
Tryglyceride levels Magnesium Phosphorus |
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A terminally ill patient with liver cancer
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Aminotransferases go up and albumin goes down. ASLT? AFP?
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Pernicious anemia—fatigue, shortness of breath, numbness/tingling, etc
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Vitamin B12 Malabsorption
: unable to absorb vitamin B12 since this normally occurs in the terminal ilieum along with intrinsic factor—causes a B12 deficiency : Serum B12 levels low |
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An obese 62-year-old male with a history of hypercholesterolemia, Type II diabetes and coronary artery disease is brought to emergency room unconscious with increased breathing. Blood test shows acidosis with evaluated lactate but low in acetoacetate. The patient is taking a statin drug for cholesterol control, aspirin for anti-thrombosis, beta-blocker propranolol to control heart rate and vitamin B-12 and an antiacid for stomach problems. What are the potential causes of acidosis?
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o Statin treatment causes decreased ubiquinone, which can result in impairment of oxidative phosphorylation leading to lactate acidosis.
• aspirin is an acid – after ingested, it’s rapidly converted to salicylic acid, which is readily absorbed in the stomach and small bowel. At therapeutic doses, salicylic acid is metabolized by the liver and eliminated in 2-3 hours; with an overdose, it can cause metabolic acidosis • Diagnostic lab tests: Blood gas analysis. • Other diagnostic tests: Evaluate anion gap, check urine pH |
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pain, bleeding, unexplained fractures, weight loss, numbness in joints
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Multiple Myeloma
: malfunction of plasma B cells—they proliferate & prevent apoptosis. Increases osteoclast/decrease osteoblast activity Urinalysis: Bence Jones Protein, type of M protein that damages the kidneys Calcium levels – may show Hypercalcemia Creatine levels X rays/CT Scans bone will appear darker indicating excessive osteoclast activity and the constant remodeling of bone |
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A 30-year-old male patient showed rash on sun-exposed areas of his face and arms. He states that he has always been sensitive to sunlight with out break of rashes especially after consumption of alcohol. In his medical history, his symptoms were associated with episodes of neruopsychiatric changes including hallucinations and manic-depression
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Porphyria Cutanea Tarda
Most common type of porphyria. Patients a deficiency of the uroporphyrinogen decarboxylase (UROD) enzyme, which impairs the 5th step of heme biosynthesis. Without UROD, uroporphyrinogen in the body, especially the skin and UV light converts it into a reactive oxygen species further disrupting the activity of the UROD enzyme. The ROS uroporphyrinogens cause the sunlight sensitivity and skin blistering. Alcohol can cause onset, as it stimulates heme synthesis and more uroporphyrinogen is produced. Patients will also have high body stores of iron, as they can't synthesize heme. Treatment includes lifestyle changes and phlebotomies to reduce iron in the liver. URINE TEST RESULTS: most characteristic feature “when left to sit, urine turns dark color (red/pink to purple/black). In addition: Urine fluorescence, elevated urinary uroporphyrin level, slightly elevated urinary coporphyrin levels (which are pigmented causing the darkened color. -A blood test would show: high levels of porphyrins, and their precursors ALA and PBG. (PBG is especially emphasized). Also elevated serum transferring, serum iron and hepatic iron, elevated serum transaminase. -Skin biopsy may show iron deposits, and intense porphyrin flouresence |
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: Early stage: drowsiness, nausea, severe headache; Mid stage: hallucinations, arrhythmic pulse and tachycardia; Late stage:disorientation, lack of consciousness.Physical signs include bright cherry red skin and lips
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CO binds HbA 220-225 times more strongly than oxygen shifting the oxygemoglobin dissociation curve to the left, decreasing oxygen availability to tissues. CO interferes with the interaction of oxygen with cytochrome oxidase. A person can still register normal oxygen saturation on a pulse oximeter.
Diagnosis: Increased carboxyhemoglobin (>25%); metabolic acidosis. CT/MR: bilateral globus pallidus lesions |
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A 52-year-old male is brought to the hospital with severe chest pain. Angiography shows
a coronary occlusion. You administer a thrombolytic agent to establish the blood flow. What are the biochemical events in this treatment? |
Fibrinolytic system is activated by tissue-plasminogen activator (t-PA) and urokinase to produce plasmin which cleaves fibrin clot.
The classic role of tPA is in the clotting system. To be specific, tPA catalyzes the conversion of plasminogen into plasmin. It does so by cleaving the single-chain plasminogen into two chains. These two chains are linked by a disulfide bond and the resulting molecule is called plasmin. |
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A patient suffering from a peptic ulcer is treated with antibiotic, antiacids and omeprazole.
What are the biochemical events in these treatments? |
Antibiotics; kills H.pylori. Antacids – neutralizes acid for awhile; Omeprazole – inhibits secretion acid by proton pump on parietal cells
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: Gallstones--epigastric/right shoulder pain, jaundice, dark urine. Fever. Pancreatitis—acute abdominal pain, nausea/vomiting
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Gallstone Pancreatitis
Mechanism: gallstones formed when cholesterol concentration in bile becomes supersaturated. Gallstones that obstruct the distal common bile/pancreatic duct can cause pancreatitis. : Gallstones seen on abdominal ultrasound. Pancreatitis: abdominal CT, labs (amylase/lipase/typsin/elastase). |
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A 32-year-old Asian female complains of abdominal pain with a mild fever. Ultrasound
imaging reules out the existence of gallstones. From her medical history, she is a hepatitis A carrier. |
Orotic Aciduria complication.
Inability to convert Orotic Acid into UMP (in the De Novo Pyrimidine Synthesis) due to defect in either Orotic Acid Phosphoribosyltransferase or Orotidine 5'-Phosphate Decarboxylase Autosomal Recessive Disease Diagnosis: Inc Orotic Acid in urine (Orotic Acid Crystals in Urine) Megaloblastic Anemia that does not improve with administration of Vitamin B12 or Folate (Folic Acid) |
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Fetal alcohol syndrome:
Laminopathy I-Cell disease Hurler's |
o Narrow, small eyes with large epicanthal folds
o Small head o Small upper jaw o Smooth groove in upper lip o Smooth and thin upper lip exhibits failure to thrive, limited growth, alopecia, small face and jaw, pinched (beak) nose, CV problems. Coarse facial features, claw hand, spinal deformities, problems in heart valves, spelonhepatomegaly, developmentally delayed. Abnormal bones in the spine, claw hands, cloudy corneas, deafness, joint stiffness, heart valve problems, and progressive mental retardation, stunted growth, thick flat coarse facial features with low nasal bridge. |
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) A 30-year-old male visited a family physician with symptoms of persistent
pneumonia and fever, frequent diarrhea with recent weight loss over 15 lbs. In examination of his oral cavity, the physician found oral ulcer lesions. Furthermore, examination of his back, the skin had darkening lesions suspected of carcinoma |
. Dr. Ho could ask about the weight loss (cancer would lead to TNF alpha secretion, causing cachexia) or if HIV, he could ask about treatment (HAART therapy, which are multiple antivirals), or any number of cancer therapies (most of which inhibit DNA replication or induce DNA damage).
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Can be mistaken for flu, usually only last four 2 weeks, include fatigue, fever, abdominal pain, nausea, appetite loss, jaundice, dark urine containing bile and clay-colored feces
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Hepatitis A/B
Virus targets hepatocytes and Kupffer cells. HAV is transmitted by fecal-oral route. HBV is transmitted sexually and hematogenously Diagnosis: Specific diagnosis is made by detecting HAV specific IgM antibodies blood or HBsAG (hepatitis B surface antigens) antigens. |
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High serum urea, potassium, phosphate and creatinine. Inability to excrete fluid can result in significant swelling
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Kidney dysfunction
Usually occurs when blood flow to the kidneys is blocked or when the kidneys become overloaded with toxins Glomerular filtration rate is the best indicator of kidney function. Abdominal CT’s or MRI’s can also show damage. Also, serum tests of BUN, K+, creatinine and phosphate. |
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45. A teenage woman with severe acne skin problem was treated with Accutane for a long period of time. One day she discovered that she was pregnant.
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Stunted growth in teenagers who are still growing
-Birth defects -Depression -Crohn’s Disease and ulcerative colitis |
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Primary hemochromatosis
Secondary or acquired hemochromatosis |
caused by a genetic problem that causes too much iron to be absorbed. Too much iron in the diet causes for the extra iron to be absorbed in the GI tract and deposited in the body tissues, particularly the liver
can be caused by diseases such as thalassemia or sideroblastic anemia, especially if a person has received a large number of transfusions. Can also be seen with hemolytic anemia, chronic alcoholism and other conditions. Abdominal pain, fatigue, generalized darkening of the skin, joint pain, lack of energy, loss of body hair, loss of sexual desire, weight loss and weakness. Signs- A physical examination will show liver and spleen swelling (due to build up of iron) and skin color changes |
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Severe Combined Immunodeficiency
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Genetic. Most common is X-linked (X-SCID) (so women can be carriers). Due to mutations on gene that encode protein for a number of interleukins which are involved in the development and differentiation of T cells and B cells. Mutation results in non-functional protein causing near complete failure of immune system to develop and function. The second most common form is caused by a defective enzyme (ADA) necessary for the breakdown of purines (this one is autosomal recessive). It ultimately inhibits ribonucleotide reductase which inhibits lymphocyte proliferation and leads to a compromised immune system
X-SCID can be diagnosed by observing the immune system (very small amounts of T Cells and lack of B cells). You can do genetic testing to determine if the baby has X-linked or ADA associated SCID (which is a defect on chromosome 20). According to medscape, you can do flow cytometry (counting cells) to distinguish between B cell deficiencies and lack of mature T cells |
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A 10-year-old boy was brought to the clinic for examination with restless behavior, mental retardation. He is unusually tall for his age and thin with deformed chest. His limbs and fingers out of proportionally long. Based on the primary physical exam the doctor suspected the patient might have Marfans syndrome or suffer from homocystinuria
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hemocystinuria
: Autosomal recessive trait. Accumulation of homocysteine and its metabolites due to defect in cystathionine beta synthase (CBS). Patient will have elevated homocysteine in the serum and increased excretion in urine. A neonatal test, the Guthrie test, exists for homocystinuria but it sounds like this kid didn't get it. You can measure CBS activity in a person to get a definitive diagnosis |
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)A three-week-old baby with severe jaundice was treated with phototherapy without
significant improvement. The baby had light color urine and light color to white stool. Serum blood test showed marked increase of unconjugated bilirubin. The physician suspected this is a case of hereditary hyperbilirubinemias |
Crigglers
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A 30-year-old male patient had been treated for kidney stones several times in the past two years.
The symptoms seemed to be associated with his high protein diets with egg, milk, cheese, fish and meat. Urine analysis with microscope revealed hexagonal crystals. |
Diagnosis: Cystinuria
Symptoms: Recurrent kidney stones, blood in the urine, pain associated with kidney stones Biochemical Defect: Autosomal recessive defect in SLC3A1 and SLC7A9, transport proteins in kidney responsible for reabsorption positively charged amino acids, which dimerize to form cystine. This leads to buildup of cystine in the urine and formation of characteristic hexagonal crystals. Diagnostic Tests: • Microscopic urinalysis will reveal characteristic hexagonal crystals • Abdominal CT scan or renal ultrasound in order to check for stones Treatment: • High levels of fluid consumptions to produce more than 4L of urine daily • Reduce methionine intake by reducing intake of eggs, cheese, and fish A 10-year-old boy was brought to the clinic for examination with restless behavior, mental retardation. He is unusually tall for his age and thin with deformed chest. His limbs and fingers out of proportionally long. Based on the primary physical exam the doctor suspected the patient might have Marfans syndrome or suffer from homocystinuria. • Possible Extracorporeal Shock Wave Lithotripsy (ESWL) to break stones apart |
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A 17-year-old girl consulted with her doctor for her embarrassment of dark hair
growth on her face. She mentioned to the doctor that she did not have regular menstrual periods for the past two years and had not had a period for over 4 months. She was not pregnant. She is slightly obese with early sign of diabetes. A blood test with hormone panel was ordered and the results were as followed: LH, testosterone and insulin were elevated. Estradiol, prolactin, TSH and free T4 were normal range. FSH and SHBG were lower than normal range |
Hirsutism-or PCOS..look them up both.
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A 27-year-old male was examined for infertility. He was found to have azoospermia (no to
extreme low sperm count). On examination, the doctor found noticeable bilateral gynecomastia and small but firm testes. He also complained of fatigue and low sex drive. Results of hormone panel from blood tests showed the following |
Hypogonadism due to Klinefelter Syndrome
Biochemical Defect: Nondisjunction in meiosis 1 leads to a male with genotype XXY. This leads to hypogonadism, which can vary from mild (almost unnoticeable) to severe, depending on the case. Diagnostic Tests: • Serum hormone level testing will show elevated estradiol, LH, and FSH, but low testosterone • Sperm count is very low (azoospermia) Treatment: • Androgen replacement therapy is most effective and important form of treatment • Speech and behavioral therapy, if necessary due to mental handicap |
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A 58-year-old man was admitted to hospital with weight loss and respiratory distress. His blood
pressure was 140/80. The patient showed hypokalaemic alkalosis. A random cortisol test showed elevated level five folds above normal range. Overnight (1 mg) dexamethasone test did not suppress the cortisol level. Further testing showed extremely high ACTH level. A CRH test showed a flat response for cortisol and ACTH. |
Diagnosis: Cushing’s Disease caused by ectopic tumor producing ACTH. High ACTH levels
show that it is Cushing’s disease, not syndrome, and no response to dexamethasone or CRH test shows that it is an ectopic tumor secreting ACTH. Biochemical Defect: An ectopic tumor producing excess ACTH leads to increased production and release of cortisol from the adrenal cortex. Normally, cortisol would inhibit the release of ACTH from the anterior pituitary, but in Cushing’s disease, there is a tumor causing overproduction of ACTH which does not respond fully to the negative feedback from the cortisol. If the tumor is located in the pituitary, it will show response to the dexamethasone and CRH test. However, in this case, because the ACTH levels are unaffected by the tests, we know that it must be an ectopic tumor. Diagnostic Tests: • Dexamethasone suppression test • Inferior Petrosal Sinus Sampling (IPSS) can be done to better distinguish pituitary from ectopic tumor source – uses radiation and sampling of veins from pituitary to measure hormone release • CRH test • Chest and Abdominal CT to look for ectopic tumor Treatment: • Surgical removal of ACTH-producing adenoma |
