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55 Cards in this Set

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A newborn develops diarrhea and vomiting after breast-feeding.
The newborn symptoms of mental retardation, cataracts and
jaundice. Laboratory tests show increase levels of
galactose-1-phosphate and galactitol.
Galactosemia
Treatment: Eliminate galactose and lactose form the diet (like milk, tomato sauces) and infants should switch formulas immediately to one that is free of lactose
A 68-year-old obese male suffers a myocardial infraction and is rushed
to the emergency room. He arrives unconscious and is in the state
of shock (tissue hypoperfusion). His blood pH is low (7.2) with
increase anion gap (>19).
Metabolic Acidosis

Respiratory compensation for metabolic acidosis is removal of CO2 through hyperventilation (though an unconscious ER patient may have difficulty with this)
[no presentation on this topic, so no practice Q's
An African-American patient comes in with shortness of breath, swelling
and pain in hands and feet. The patient complains of sudden painful
episodes throughout the body. Simple blood test shows low
hematocrit (HCT) and decreased hemoglobin at 7.13 g/dL
Sickle cell disease

Treatment – blood transfusions, dietary cyanate, stimulate translation of other isoforms of Hb, reduce sickling of RBC
A neonatal boy (genetically XY male) is examined by pediatrician for
the lack of development of penis. Physical examination shows
microphallia (penis small for age), cryptorchidism (testes located in
inguinal canal bilaterally) and hypospadias (urinary meatus lies in
perineum. The boy has normal blood pressure. Blood test of
hormone levels shows markedly increase of reduced
dihydrotestosterone (DHT) and normal testosterone level with an
elevated testosterone to DHT ratio.
17 alpha-hydroxylase deficiency

Treatment: glucocorticoid replacement, enzyme replacement therapies, testosterone replacement to induce secondary sex characteristics later in life.
[no presentation on this topic, so no practice Q's]
A 30-year old man complains about shortness of breath and chest pain
when hiking up the hill. General physical examination and EKG are within
normal ranges. Blood tests show high level of cholesterol (350 mg/dL)
and LDLs. In taking history, the patient reports that his father and a
brother had heart attack at the age of 45.
Familial Hypercholesterolemia


Treatment: Statin (HMG-CoA reductase inhibitor), low cholesterol diet, bile acid sequesterants (inhibit reuptake of bile acid in the gut and stimulate the formation of more from cholesterol); Homozygous treatment is much more aggressive and includes LDL apheresis (a form of hemodialysis) or liver transplant
An adolescent obese male presents in the ER with recurrent episodes
of pancreatitis. Blood tests show high levels of triglycerides and VLDL.
Serum total cholesterol, HbA1c, TSH and LDL levels are all normal.
In taking history, the patient claims thathis father developed coronary
artery disease at early age.
Hypertriglyceridemia

Treatment – avoid excess calories and fat, eat omega-3,6, exercise, meds – nicotinic acid, statins, fibrates
A 2-year-old female is evaluated for lethargy, weakness and persistent
anemia. She was treated with supplements of iron, folic acid,
vitamin C and vitamin B12. The symptom has been unresponsive to
these dietary supplements. She is low weight and height of age,
marked pallor, sleepiness, but without neurologic signs and
hepatomegaly. You order a blood test. CBC shows megaloblastic anemia
with elevated mean corpuscular volume.
Anemias:
General Symptoms
-Anemic: inadequate RBC
- Common symptoms are fatigue, lack of energy, shortness of breath, dizziness, headache, cold extremities, pale skin, and chest pain
Diagnosis
-H&P and different laboratory tests to further narrow down type of anemia
-Complete blood count (CBC), blood smear, hemoglobin electrophoresis, reticulocyte count, serum iron test, and bone marrow test
Macrocytic Anemia
-peripheral blood smear reveals large RBC’s, MVC (mean corpuscular volume) greater than 100 fL
-divided into Megaloblastic and non-megaloblastic anemia
-Megaloblastic: due to failure of DNA synthesis (because B12 is needed to synthesize thymine), presents with neutrophil hypersegmentation (6-10 lobes)
-Non-megaloblastic: due to impaired DNA globin synthesis in alcoholics
Megaloblastic:
Symptoms:
-peripheral neuropathy, glossitis, dyspnea, headache, fatigue, diarrhea, tachycardia, splenomegaly, ataxia, conjunctival pallor.
Causes:
Megaloblastic anemia. Refractory to vitamin supplementation, thus orotic aciduria is the diagnosis.
A young boy has dislocated his left shoulder in a baseball game
and is brought to the ER for treatment. In taking the history, you
find out that the young boy has multiple dislocations of the shoulder
before. Physical examination shows hyperelastic skin,
hyperextensibility of joints and multiple bruises over skin and scars
in area of trauma. The young boy has taken daily multiple vitamins
and CBC is normal.
Ehler’s Danlos Syndrome

Treatment:
-manage signs and symptoms to prevent complications
-protect from injury, pain relievers, physical therapy to alleviate pain
A 40-year-old homeless male is brought to emergency room with
confusion, shortness of breath, ophthalmophlegia and swelling of his
leg. He is known to be alcoholic and eat poorly with only canned soup
and junk food in homeless shelter. Physical examination indicates
cardiac hypertrophy “high out-put” heart failure. A simple blood test
shows no ketoacidosis.
Wernicke-Korsakoff Syndrome
Treatment: Thiamine supplements (intravenously or intramuscularly at first, followed by orally).
A 27-year-old male complains of excessive thirst (polydipsia) and
increased urination (polyuria) with diluted urine (clear and watery with
low urine osmolarity and specific gravity). Blood tests show elevated
serum osmolality (>290 mOsm/L) and hypernatremia. He develops an
excessive water-drinking habit (several liters per day) after a traumatic
accident.
Diabetes insipidus

Treament: Vasopressin or desmopressin (synthetic replacement for vasopressin) for hypothalamic DI. Thiazide diuretics can help improve nephrogenic DI.
A 19-year-old female is brought to her family doctor for showing
neurologic symptoms of tremor of her hands, rigidity in grasping
objects and odd behaviors. Physical examination shows yellow ring
in her eyes (the copper deposits in Descemet’s membrane of cornea
– the Kayser-Fleisher rings). Laboratory tests show elevated liver
enzyme levels (ALT and AST), decrease in serum ceruloplasmin
with increase excretion of copper in urine.
Wilson’s Disease

Treatment: this entails reducing the amount of copper in the tissues by chelation therapy and low copper diet
A 3-year-old male who was born in Europe has moved to US recently.
He presents with progressive mental retardation, vomiting and irregular
movements of limbs. The child is blond with blue eyes and physical
examination shows heavy perspiration. Neurologic exam shows
hypertonia with hyperactive deep tendon reflexes. Imaging scan shows
delayed bone age and MRI shows areas of demyelination. The urine of
the boy has distinct odor.
Phenylketonuria

Treatment: NO CURE but treatable. Low phenylalanine diet with tyrosine supplementation is required, especially during growth. (Phe found in sweeteners, beef, chicken, fish, nuts, cheese, legumes and starchy foods)
A 3-week-old male baby shows severe jaundice (bilirubin level around
3.0 mg/dL). Photo-therapy showed little improve the jaundice situation.
Physical examination shows slight hepatomegaly. Laboratory tests
show markedly increase of serum unconjugated bilirubin with very low
fecal urobilinogen.
Crigler-Najjar Syndrome (CNS)-Jaundice related diseases

Treatment: CNS Type 1-phototherapy (UV induced isomerization of bilirubin makes it more soluble and can be excreted); calcium-phosphate/carbonate (complexes with bilirubin in the gut); Plasma exchange transfusion (decrease albumin saturated with bilirubin); tin protoporphyrin or tin mesoporphyrin (competitive inhibitors or heme oxygenase); liver transplant and gene therapy
CNS Type 2-can be asymptomatic; responds to phenobarbital tx (decreases serum bilirubin levels and induces enzymatic activity in the liver)
A 40-year-old male develops skin problems with a rash on his hands and face. The symptoms recur after alcohol intake. The patient’s urine turns dark brown-black if left standing. He has skin erythema with vesicles and bullae on sun-exposed area
Pompe?

Tx: myozyme. (analog of acid alpha glucosidase), high protein diet
**treat lyosomal and cardiac problems.

Treatment: No cure. Enzyme replacement therapy and support to relieve symptoms (noninvasive or mechanical ventilation to help with difficulty breathing; high protein/low carb diet; physical therapy to preserve muscle strength).
A 40-year-old substance dependent male using opiates drugs. He has
developed weakness, fatigue and headache with markedly decreased
urinary output (oliguria). Physical examination shows normal cardiac
and liver functions. Laboratory tests show hyponatremia and urine
hypernatriuria
Disease: Drug-induced Syndrome Inappropriate ADH secretion

Tx: restrict intake. Give hyPERtonic saline. Can give an inhibitor of ADH (V2 receptor inhibitor)
A 2-year-old male develops sever, compulsive, uncontrollable
destructive behavior including irregular amputation of fingers and
biting of lips. The parent also notices crystalluria
Lesch-Nyhan Syndrome
A 30-year-old female patient complains about shortness of breath
even at rest. She has experienced recent weight loss and recurring
upper respiratory tract infections. You find out that the patient is a
nonsmoker. Physical examination in listening to the breathing
indicates decrease breath sounds bilaterally with retardation of
expiratory flow. You order a chest x-ray and pulmonary function
tests (PFTs). The results show no lung cancer but destruction of
alveolar walls and airflow obstruction.
Alpha 1-Antitrypsin (AAT) Deficiency

Treatment for AAT deficiency includes augmentation therapy, or direct infusion of AAT into the patient, which is believed to arrest the disease and prevent further damage to the lungs. This treatment, however, does not help assuage liver damage. Sometimes, a liver transplant may be required.
A 24-year-old female physical therapist consults you for excessive
moistness of her skin and sweaty hands that cause embarrassment at
her work. She also reports weight loss without decrease in appetite.
Physical examination shows her pulse is 95 per minute at rest with a
slight enlarged thyroid gland. You suspect that she may have Graves’
diseases and order a blood test for thyroid hormone and thyroid reactive
antibodies
Graves’ disease (hyperthyroidism)

Treatment: antithyroid drugs (propylthiouracil, methimazole), B-adrenergic antagonists (block thyroxine action to relieve symptoms), radioactive iodine (kills overactive thyroid cells)
There was no presentation on this case so there are no questions.
A patient complains of having difficulty driving at night but not in the morning with sunlight. The patient has maintained a healthy dietary intake of vegetables. Vision field study showed good central vision but with significant decrease in peripheral vision.
Retinitis Pigmentosa

Treatment: Maximize current vision with annual screening and focus on prevention. Antioxidants such as Vitamin A/beta-carotene, Docosahexaenoic acid (DHA) have been utilized. Acetazolamide has shown to improve visual function.
A 23-year-old woman presents with progressive bilateral loss of central vision. Examination by ophthalmologist has ruled out of genetic defects in retinas and suggests a form of hereditary optic neuropathy. To study the genetic linkage, a detailed family history of the patient shows the following pedigree
LEBER’S HEREDITARY OPTIC NEUROPATHY
A newborn infant boy has severe respiratory problems and is treated with surfactant. He is observed in ICU for a week showing developmental problems in muscle and in brain. A liver biopsy reveals a very low level of acetyl-CoA carboxylase activity, but normal activities in glycolysis, gluconeogenesis, Oxidative phosphorylation and pentose phosphate pathway.
Neonatal respiratory distress syndrome:

Often treated with dexamethasone (as it matures the lungs)
A newborn boy develops vomiting and electrolyte imbalance with low serum sodium concentration and high serum potassium. Physical examination discovers the newborn has ambiguous genitalia. Karyotyping of genetic variation shows normal 23 pair with XY chromosomes.
Ambiguous Genitalia
hormone therapy may be enough to correct the initial hormonal imbalance
24) A young boy with short stature and coarse facial features (low, fat nose, thick lips; widely
spaced teeth; facial fullness) is examined for loss of hearing. Laboratory tests show
increased urinary levels of heparan sulfate and dermatan sulfate
Hurler syndrome

Tx: Enzyme replacement therapy (Iaranidase), blood marrow transplant and umbilical cord blood transplantation
A 10-year-old boy developed severe sunburn after spending a day at the beach. His skin showed freckles and lesions on the exposed areas in the face and arms. These symptoms continued a week after initial skin breakdown. CBC shows normal blood counts. His urine is normal in color.
Porphyria or Xeroderma Pigmentosa
Tx for porphyria Treatment: phlebotomies to reduce iron in the liver
Tx for Xeroderma The use of sunscreens in conjunction with other sun-avoidance methods (eg, protective clothing, hats, eyewear) can minimize UV-induced damage in patients with xeroderma pigmentosum
The parents took a 4-year-old boy for examination of hearing loss.
The patient has a history of numerous bone fractures during seemingly
normal physical activities. He has loose joints and blue scleras.
Collagen Diseases:Osteogensis Imperfecta/Type III
Treatment: no cure; biphosphonates-improve bone reabsorption; mesenchymal stem cells-bone regeneration; avoid potentially traumatic activities
A 60-year-old male patient suddenly (in three months) developed neurological symptoms including difficulties in mobility and swallowing, visual impairment and early sign of dementia. Brain scan shows normal image without tumor growth or brain damage. Spinal fluid shows no viral infection. He had worked in England during 1970 – 1989.
Mad Cow Disease
Treatment: no treatment, only prevention.
(no questions given)
A 50-year-old man with crushing chest pain is rushed to the ER.
Lab Tests for MI – Troponin, CK-MB, LDH
TPA (tissue plasminogen activator) can be given if MI caught early
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
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
A severely burned patient in ICU is treated with antibiotics for infections
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.
A terminally ill patient relies on parental nutritional support. A protein marker for short
term good nutrition status.
A terminally ill patient relies on parental nutritional support. A protein marker for short term good nutrion status
. If you have a low pre-albumin level and a low CRP level, it is probably something to do with nutrition
A terminally ill patient with liver cancer
AFP? AST ALT
A 60-year-old man with inflammatory G.I. tract disease – Crohn’ disease underwent surgery to remove a segment of the intestine - the distal 100 cm of the terminal ileum. The patient will most likely develop malabsorption of the following substances.
Vitamin B12 Malabsorption

Treatment: Vitamin B12 injections monthly
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?
Disease: Lactic acidosis

Treatment : NaHCO3- infusion, replaces lost HCO3- and shifts equilibrium to carbonic acid, consuming H+, also, artificial ventilation, by artificially increasing ventilation more CO2 is exhaled and H+ removed
A 70-year-old female patient presents to the ER with a broken hip as well as complaints of generalized joint numbness, fatigue and back pain. A serum protein electrophoresis showed a sharp band in the gamma-region
Multiple Myeloma

Treatment: If symptomatic, treat directly with chemo & stem cell transplant or indirectly with bisphosphonates & erythropoiten.
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.
Porphyrias Cutaneous Tarda (PCT

Treatment: Avoidance of sunlight, iron and estrogens. Stop alcohol consumption, or any other exacerbating factor if it is known.
-Treatments focus on reducing the amount of porphyrin to eliminate symptoms.
-Most often: repeated phlebotomies to remove porphyrin. Activated charcoal binds the excess porphyrin allowing quicker excretion.
-As a supplement: Beta carotene which can then be converted to Vitamin A that is needed for healthy eyes and skin. Beta carotene may increase the skin's tolerance to sunlight
An old man was found unconscious in a cold apartment. He was heating the apartment with an open fire on the stove. The emergency personnel suspected that he was poisoned with carbon monoxide
CO poisoning

Administer 5-7% CO2 to stimulate respiration and follow with 100% O2 until patient is asymptomatic. Hyperbaric chamgbers with pressures up to 2 atm speeds up CO washout process
A 52-year-old male patient is brought to hospital with severe chest pain. Angiography shows a coronary occlusion. You administrate a thrombolytic agent to re-establish the blood flow. What are the biochemical events in this treatment?
Thrombolytic agent: Tissue Plasminogen activator

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.
A patient suffered from peptic ulcer is treated with antibiotics, 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
A 55-year-old woman comes to the hospital complaining of acute, abdominal pain in the
mid-epigastric area along with nausea and vomiting. Ultrasound imaging shows
gallstones with pancreatic cysts
Gallstone Pancreatitis

Treatment: surgery to remove gallbladder (cholecystectomy) or a procedure to remove stones obstructing the bile duct. Pancreas: possible removal of diseased tissue & fluid drainage
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.
Urea Cycle Disorders and Orotic Aciduria
Specific Physical feats-facial and appearance of hereditary diseases
Fetal alcohol syndrome: A baby with fetal alcohol syndrome may have the following symptoms:
• Poor growth while the baby is in the womb and after birth
• Decreased muscle tone and poor coordination
• Delayed development and significant functional problems in three or more major areas: thinking, speech, movement, or social skills (as expected for the baby's age)
• Heart defects such as ventricular septal defect (VSD) or atrial septal defect (ASD)
• Structural problems with the face, including:
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
Laminopathy:
Appears normal at birth but soon after, newborn exhibits failure to thrive, limited growth, alopecia, small face and jaw, pinched (beak) nose, CV problems.
Ciliopathy:
Causes Polycystic kidney disease. Symptoms of this are: abdominal discomfort, pain in the back, hematuria, urinary tract infection, GERD, abdominal mass, renal pain.
I-Cell disease:
Coarse facial features, claw hand, spinal deformities, problems in heart valves, spelonhepatomegaly, developmentally delayed.
Hurler’s:
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.
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
Kaposi sarcoma

treatment (HAART therapy, which are multiple antivirals), or any number of cancer therapies (most of which inhibit DNA replication or induce DNA damage).
A 26-year-old female health worker came back from a two-months mission to
Southeast Asia. She developed flu-like illness for 4 days with symptoms of
fever, vomiting and abdominal tenderness in the right upper quadrant. One
examining her, the doctor found that she was jaundiced. The liver was enlarged
and tender. A sample of urine appeared dark with bilirubin present and
urobilinogen was increased. A blood sample was taken for liver function tests
with results – albumin was normal, ALP, GGT enzyme activity increased
markedly, and bilirubin increased 10 fold of normal level
Hepatitis A/B

Treatment: Most adults do not require treatment as they clear the infection. There are antiviral drugs, but they are only used in 1% of cases. Avoid stressing liver
Specific Physical feats-facial and appearance of hereditary diseases
Fetal alcohol syndrome: A baby with fetal alcohol syndrome may have the following symptoms:
• Poor growth while the baby is in the womb and after birth
• Decreased muscle tone and poor coordination
• Delayed development and significant functional problems in three or more major areas: thinking, speech, movement, or social skills (as expected for the baby's age)
• Heart defects such as ventricular septal defect (VSD) or atrial septal defect (ASD)
• Structural problems with the face, including:
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
Laminopathy:
Appears normal at birth but soon after, newborn exhibits failure to thrive, limited growth, alopecia, small face and jaw, pinched (beak) nose, CV problems.
Ciliopathy:
Causes Polycystic kidney disease. Symptoms of this are: abdominal discomfort, pain in the back, hematuria, urinary tract infection, GERD, abdominal mass, renal pain.
I-Cell disease:
Coarse facial features, claw hand, spinal deformities, problems in heart valves, spelonhepatomegaly, developmentally delayed.
Hurler’s:
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.
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
Kaposi sarcoma

treatment (HAART therapy, which are multiple antivirals), or any number of cancer therapies (most of which inhibit DNA replication or induce DNA damage).
A 26-year-old female health worker came back from a two-months mission to
Southeast Asia. She developed flu-like illness for 4 days with symptoms of
fever, vomiting and abdominal tenderness in the right upper quadrant. One
examining her, the doctor found that she was jaundiced. The liver was enlarged
and tender. A sample of urine appeared dark with bilirubin present and
urobilinogen was increased. A blood sample was taken for liver function tests
with results – albumin was normal, ALP, GGT enzyme activity increased
markedly, and bilirubin increased 10 fold of normal level
Hepatitis A/B

Treatment: Most adults do not require treatment as they clear the infection. There are antiviral drugs, but they are only used in 1% of cases. Avoid stressing liver
A young man was suffered multiple fractures and muscle injuries in a traffic
accident. He was hospitalized for two days. Despite adequate fluid intake he was
unable to urinate (oliguric). Serum tests showed elevated urea, creatinine and
potassium ions. Sodium ion was normal.
Kidney dysfunction

Treatment: Diuretics, limited fluid intake, restricted diet to limit toxins, and possibly dialysis
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
Accutane (Isotretinoin) is an acne medication that is used to treat cystic acne. This medication was first developed to treat brain, pancreatic, and other types of cancer. Its effects are systemic and nonselective. It is a retinoid, meaning it derives from vitamin A, and is found in small quantities occurring naturally in the body.
- This drug’s best known and most dangerous side effect is birth defects. This is because of the molecules close resemblance to retinoic acid, a natural vitamin A derivative which controls embryonic development. Because of this, it is one of the most difficult medications to obtain in the US.
Birth defects- Isotretinoin is a teratogen (causing abnormalities) and is highly likely to cause birth defects if taken during pregnancy. A few of the more common birth defects this drug can cause are hearing and visual impairment, missing or malformed earlobes, facial dysmorphism, and mental retardation.

Treatment: Stop taking the drug 2 weeks before pregnancy and DO NOT take the drug while pregnant. This is not a problem the US because this drug is banned.
*the exact mechanism of this drug is unknown for the treatment of acne
A 46-year-old mother was diagnosis of hereditary hemochromatosis (iron overload symptoms). Her two identical twin sons of 22 years old were referred to a hematologist for assessment of their iron status and genetic testing. Both sons were homozygous for the hereditary mutation (C282Y) with unregulated iron absorption. During examination, both sons were asymptomatic. Serum tests of these two sons were different
Hemochromatosis- Primary hemochromatosis Secondary or acquired hemochromatosis

Treatment: take in a low iron diet. Also, phlebotomy can be performed by removing one half liter of blood from the body each week until the iron levels are normal (this can take years to accomplish)
Son 1 – Is on a low iron diet to help decrease his iron levels. He isn’t seeing any symptoms because his iron levels are decreasing. Even though his body cant control how much iron is being absorbed, it isn’t a problem because his GI tract isn’t seeing too much iron anyway.
Son 2- He is being treated with phlebotomy because his iron levels are still too high. He was likely a meat-eater and had accumulated a lot of iron over time. The most effective way to get rid of the iron is by phlebotomy.
. A 3-month-old baby was brought to doctor’s office for examination of recurrent infections of skin, ear, GI tract (diarrhea) and oral cavity sores. Simple Complete
Blood Count revealed the lack of immuno B and T cells. The doctor suspected that this is a case of immunodeficiency syndrome.
Pediatric) Severe Combined Immunodeficiency (SCID

Treatment: In the short term, the baby should be given intravenous immunoglobulin and should immediately be evaluated for a bone marrow transplant. Babies will die within one year if not given a bone marrow transplant (better outcomes if transplant occurs before 3.5 mos)--this applies for all varieties. What you shouldn't do is give them any sort of vaccine or nonirradiated blood products because it will probably kill them.
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
hemocystinuria

Treatment: Recommend a low protein diet (low methionine). Patients can also be given Vitamin B6 (pyridoxine), folic acid, and Vitamin B12 (essentially, I think, you use the pathway that involved TH4 and the methyl/folate trap and all that old Ho goodness to get rid of the homocysteine). You can try B6 alone and then add folic acid and B12 as necessary
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.
Hyperparathyroidism, leading to hypercalcemia and hyperphosphatemia
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-Idiopathic

TX: Cosmetic and/or dermatologic management including laser therapy; oral contraceptives inhibiting ovarian androgen production or flutamide (nonsteroidal antiandgrogen) may be beneficial in selected cases.
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:
Prolactin, TSH and free T4 were in normal range. Estradiol, LH and FSH were
markedly elevated. Testosterone was very low as compared to normal range. This
is likely to be a case of hypogonadism.
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:
Prolactin, TSH and free T4 were in normal range. Estradiol, LH and FSH were
markedly elevated. Testosterone was very low as compared to normal range. This
is likely to be a case of hypogonadism.

Poor guy has Kleinfelter's XXY.
A 58-year-old man was admitted to hospital wit 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.
ectopic tumor secreting ACTH