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Cases and problems Case(1) Wendy is a 23- years old photographer for a local newspaper. Over the last 8 months, she experienced strange symptoms. She had severe eye strain when she read for longer than 15 minutes. She become tired when she chew her food, brush her teeth or dried her hair and she had extreme fatigue on job. Despite her strong work ethics Wendy has to excuse herself from several shoots because she simply could not carry heavy equipment.. She was evaluated by the physician who suspected myasthenia gravis. While waiting the results of serum antibody test the physician initiated a trial of prostigmine, Wendy immediately felt better while taking the drug , her strength returned almost normal. Meanwhile the results of antibody test were positive confirming the diagnosis of myasthenia gravis. 1- What antibody measured in Wendy's serum? Against what protein is this antibody directed? 2- Why prostigmine improve muscle strength in myasthenia gravis ? 3- Why severe muscle weakness occurs in this case? 4- Considering the following drugs that act at various steps in neuromuscular transmission .What is the action of each drug and which drugs are contraindicated in myasthenia gravis ? -Botulinus toxins - Curare - Neostigmine Case (2) A 35 year old woman is seen for easy fatigue for many months. She is now 24 weeks pregnant with her 3rd child in 3 years. She does not see any obstetrician and does not take any vitamins. Lately, she has developed dyspnea. She has no other complaint. Family and past history are negative. She does not smoke or drink. Physical examination is positive for pale conjunctiva, mild spooning of nails, and a systolic murmur at left lower sternal border. Stools are negative for occult blood. Labs: Complete blood count (CBC): Hg (7.1 gm/dl) Hct (23%) WBC (5.400/mm3) Platelets (450.000/mm3) Photo of Spooning of nails 1- What is your provisional diagnosis? Why? 2- How reliable is physical examination in diagnosing anemia? 3- What is the cause of murmur in this case? 4- What is the main functions of RBC's? Case (3): Justin Mather, a 23-year-old man, presented to the physician with a long medical history dating back to 1983 when, as a 6-year-old, he was referred to a pediatrician by a dentist. At that time, the dentist was about to administer an anesthetic drug by injection prior to extracting a tooth when he elicited a history of easy bruising in the boy as well as a history of a brother who died at age one from an intracranial hemorrhage after falling from a crib. Photo of Bruises In addition, Justin has had several instances of severe bruising following minor trauma. Interestingly, Justin's maternal grandfather died at age 27 of a bleeding complication following an appendectomy. Lab findings in Justin at that time (1983) were as follows: Platelet (280.000 / mm3) Bleeding time (4 minutes) Prothrombin time (PT) (11 seconds) Partial thromboplastin time (PTT) (58 seconds) In the past two years, Justin's health has deteriorated, starting with fatigue, a sore throat, and swollen lymph nodes in the neck and groin. This was followed a few weeks later by a diarrheal illness with marked weight loss. Six months ago, Justin developed a severe parasitic pneumonia which antibiotic treatment. subsided only after intensive In the past week, Justin has progressively weakened, suffering from chills, weakness, and a high fever that has left him bedridden. Laboratory studies revealed a white blood cell count of 2.800 / mm3; with a markedly reduced number of T-helper cells. 1. Why does Justin bleed so easily? What is significant his family history? 2. Why is the PTT elevated? Why isn't the PT elevated? 3. The bleeding time was normal. What general types of disorders are ruled out by the normal value of this test? 4. What precautions do you think were taken prior to extracting Justin's tooth? 5. What has been the primary cause of Justin's poor health in the past two years? Is his illness of the past two years related in any way to the "blood disease" diagnosed in 1983? 6. What specifically might have caused pneumonia? 7. How is Justin's immune system affected by a deficiency in T-helper cells? Case (4) A 60-year-old Caucasian female noticed the sudden appearance of multiple petechiae on her extremities and mild epistaxis. She had no other symptoms and denied taking any medications. Lab. Results performed by her primary-care physician showed the following : RBC's (5 millions/mm3) WBC's (8000/mm3) platelet count (75.000/mm3) BT (30 minutes) CT (8 minutes) Photo of petechiae She was referred to a hematologist who did an extensive work-up revealing no other significant abnormalities. A bone marrow biopsy was unremarkable. 1- What is your provisional diagnosis? 2- What cytokine is important in the pathogenesis of this case is? A- Erythropoietin C- Thrombopoietin B- Granulocyte colony-stimulating factor D- IL-12 Case (5) A 2-year old boy was brought to the emergency department by his mother for oozing blood from his mouth following a fall nearly 6 hours ago. His mother related that he tended to bleed for prolonged periods from his immunization sites, but there was no history of bruising or hematomas. The patient was on antibiotics for a recent ear infection. There was no known family history of a bleeding disorder. Laboratory findings Hemoglobin 12.3 g/dl (10.5-13.5) WBC 7.9 x 10^9/L (6.0-17.5) Platelets 368 x 10^9/L (156-369) PT 11.3 s (10.0-12.8) CT 30 minutes (5-10 m) BT 20 minutes (2-4 m) APTT 49.6 s(28.0-38.0) FACTOR VIII 0.16 U/ml(0.60-1.50) VWF 0.16 (0.78-1.53 ) FACTOR IX 0.82 U/ml (0.60-1.50) 1-What is the most likely cause of prolonged bleeding in this case? Explain your answer. 2- What is the function of VWF?