Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042963 (vomiting)
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Careful interpretation of the vascular pathology is important in cases of intestinal ischemia caused by primary mesenteric vein thrombosis because it suggests antithrombin III (AT III) deficiency. This deficiency, an autosomal dominant hereditary disorder, predisposes the patient to venous thrombosis. Similar or acquired deficiencies may also predispose the patient to thrombosis. In hereditary AT III deficiency, 90% of the cases have thrombosis of the leg or iliac veins; 8.3% of the cases, thrombosis of the mesenteric veins. Additionally, some families have a tendency to develop mesenteric vein thrombosis specifically. In this case report, a daughter with probable AT III deficiency had a history of 3 episodes of deep vein thrombosis in the previous 5 years while taking oral contraceptives. Her father, with the same deficiency, died from massive intestinal infarction resulting from portal and mesenteric vein thrombosis. The 19-year old woman developed gradually worsening abdominal pain, signs of peritonitis, and hematemesis. A laparotomy revealed peritonitis that was due to segmental small-bowel infarction; the underlying pathologic condition was mesenteric vein thrombosis. Coagulation study results revealed AT III activity by chromogenic assay, 0.48 u/mL; AT III antigen, 0.5 u/mL; and protein C antigen, 1.15 u/mL. 10 days after discharge, she developed a hemicranial headache with nausea, vomiting, neck tenderness, and photophobia; she was readmitted. A CT scan showed a left posterior parietal cerebral infarct. Repeat AT III activity by chromogenic assay was 0.51 u/mL and AT III antigen level was 0.50 u/mL. Before anticoagulant therapy could be initiated, the patient died 7 days after readmission. The combined lowering of AT III activity and antigen levels to half of normal suggests AT III deficiency. Earlier diagnosis of this deficiency could have been made in light of the patient's own history of thrombosis and the paternal history.
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PMID:Mesenteric venous thrombosis due to antithrombin III deficiency. 333 17

A 23-year-old man was admitted because of vomiting and severe, progressive headache. After admission, he suffered from a generalized clonic seizure, and developed right hemiparesis. Contrast-enhanced CT of the brain showed empty delta sign in the posterior part of the superior sagittal sinus and filling defect in the straight sinus. T2-weighted MRI demonstrated high intensity area in the left parieto-occipital subcortical region. Delayed venous phase of the right carotid angiography confirmed the diagnosis of thrombosis of the superior sagittal sinus. Coagulation studies gave a protein C activity of 35.3% (normal range 55-140%), protein C antigen of 45% (normal range 70-150%). Same results were obtained from the studies of his father and one of his sisters, indicating hereditary protein C deficiency. We started warfarin therapy under the administration of heparin for a week, then he has been followed up with no subsequent problems.
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PMID:[Cerebral sinus thrombosis in a young man with hereditary protein C deficiency]. 829 11

Cerebral sinus thrombosis associated with protein S deficiency is rare to the best of our knowledge. We report here a 22-year-old female who presented sudden onset of headache, vomiting and disturbance of consciousness. Neuroradiological studies including computed tomography scan, magnetic resonance imaging and cerebral angiography disclosed a huge cerebral sinus thrombosis in the territory of the superior sagittal sinus, torcular herophili, lateral sinus and straight sinus. Hematological studies confirmed the diagnosis of protein S deficiency. We summarize the reported cases of cerebral sinus thrombosis associated with protein S deficiency. For young patients presenting occlusive cerebrovascular disease, we stressed the importance of doing extensive hematological investigation to detect possible etiological factors, such as protein S deficiency, protein C deficiency, antithrombin III deficiency. Once we discover the etiology of a disease, we may be able to designate the precise treatment or regimen for each patient.
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PMID:[Cerebral sinus thrombosis in a patient with protein S deficiency: a case report]. 914 7

Carbohydrate-deficient glycoprotein syndrome type 1 (CDGS-1) is an autosomal recessive hereditary metabolic disorder, the gene locus of which is chromosome 16p13. The disorder is characterised by genetic heterogeneity, and by decrease in the gene product, phosphomannomutase 2, though the heterogeneity is far less manifest in affected Swedish families. Its incidence is 1/80,000 live births, and the under-5 mortality rate over 30 per cent. The causes of death are liver failure, cardiac tamponade, haemorrhaging, and severe infection. The characteristic biochemical aberration is the occurrence of deficient carbohydrate chains in many but not all circulating glycoproteins, and the serum and blood concentrations of some glycoproteins may be above or below normal. These changes may improve over time, but never normalise. The clinical picture is generally more problematic during the first years of life when psychomotor retardation is complicated by failure to thrive, liver dysfunction, pericardial effusions, and stroke-like episodes. In addition, strabismus, lipocutaneous anomalies, and gluteal fat pads are always present, and muscular hypotonia and restricted joint mobility are common. Failure to thrive is common, with vomiting and diarrhoea and subsequent slow growth. Inflammation is a constant finding in the liver, and very common in the small bowel. Pancreatic function is also affected. Pericardial effusion has been reported in 50 per cent of the youngest children, requiring pericardectomy in 30 per cent of cases. Haemorrhaging and thromboembolic complications may occur, and the serum concentrations of several factors and inhibitors are low, particularly those of factors V and XI, protein C and antithrombin. Stroke-like episodes occur in about 30 per cent of cases, often following an infection, with coma lasting for hours to several days. Such sequelae as hemiplegia, blindness, and other focal neurological pathology have been observed transiently. Diagnosis is based on the serum carbohydrate-deficient transferrin level, verified by isoelectric focusing. Molecular genetic procedures enable point mutations to be identified and prenatal diagnosis to be performed in many families.
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PMID:[CDGS-1--a recently discovered hereditary metabolic disease. Multiple organ manifestations, incidence 1/80,000, difficult to treat]. 988 93

An 83-year-old man had gradually worsening abdominal pain and vomiting. Laparotomy revealed segmental intestinal infarction resulting from thrombosis in the superior mesenteric vein. Necrosed intestine was resected and anastomosis was performed successfully. The patient was anticoagulated with intravenous heparin and nafamostat mesilate followed by oral aspirin. He recovered rapidly. Blood chemistry revealed protein C deficiency, while protein S and antithrombin III levels were normal. Laboratory evaluation of these proteins may help define the cause of mesenteric venous thrombosis.
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PMID:Mesenteric venous thrombosis associated with protein C deficiency. 1043 18

Hereditary hypercoagulability has been identified as risk factor in approximately 30% of cerebral venous thrombosis cases. We report three females with this association. A 38 years old female with a history of deep venous thrombosis of the lower limb, presented with headache, vomiting and a generalized seizure. Magnetic resonance angiography showed a partial thrombosis of the left lateral and superior longitudinal venous sinuses. Coagulation study showed a resistance to activated C protein and factor V Leyden. A 42 years old woman with a history of deep venous thrombosis, presented a right hemiplegia during a hospitalization. Magnetic resonance showed a left lateral hemorrhagic infarction. Magnetic resonance angiography showed an absence of signal in three venous sinuses. Coagulation study showed a protein C deficiency. A 17 years old woman presented a right hemiparesis in the sixth day of puerperium. CAT scan showed a left frontoparietal subcortical venous infarction. Coagulation study showed an antithrombin III deficiency.
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PMID:[Status of hereditary hypercoagulability and cerebral venous thrombosis. Report of 3 cases]. 1196 66

A-38-year-old man suddenly developed nausea, vomiting and vertigo during chiropractic neck manipulation. This was followed by right hemiplegia, right deep sensory disturbance and left hypoglossal nerve palsy, consistent with the medial medullary infarction (Dejerine syndrome). The MRI revealed infarction at left medial part of the medulla. The vertebral angiogram and MRA showed marked narrowing of the left vertebral artery. X-rays of the cervical spine showed no spondylosis, dislocation nor osteolysis of the odontoid process. The serological studies, including lupus anticoagulant, protein C, and protein S gave normal results. Although vascular accidents involving the brain stem after chiropractic neck manipulation have been reported since Pratt-Thomas and Berger, previous reports are still rare. In them lateral medullary infarction (Wallenberg syndrome) is probably the most common case. On the other hand, medial medullary syndrome (Dejerine syndrome) is absolutely rare. To our knowledge, the only one report has been made by Watanabe and his colleagues before our present case. The mechanism was suggested that rotation and tilting of the neck stretches and compresses the vertebral artery at the cervical joint causing injury to the vessel, with an intimal tearing, dissection, and pseudoaneurysm formation. Consequently, the present case may be caused by injury to the left vertebral artery with an intimal tearing during neck manipulation sufficient to cause disection and subsequent infarction of the brain stem.
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PMID:[The medial medullary infarction (Dejerine syndrome) following chiropractic neck manipulation]. 1268 91

The clinical picture of venous or arterial thrombosis in the presence of circulating antiphospholipid antibodies is referred to as the antiphospholipid syndrome. A 5-month-old baby girl who was quite healthy so far was referred to our clinic with irritability, vomiting, and abdominal distension for 30 hours. Surgical exploration exposed a gangrenous ileal segment about 15 cm long. The postoperative period was unremarkable. Investigation to identify the risk factors for mesenteric thrombosis found anticardiolipin antibodies (isotype Ig G) and decreased protein C level. Protein S and antithrombin III were within normal levels. Hb electrophoresis results showed no HbS, and neither Factor V Leiden nor prothrombin 20210 mutations were detected. Eight months postoperatively, anticardiolipin antibodies were found within normal levels. Lupus anticoagulant, ds DNA, and ss DNA were negative. Direct coombs test and protein C, C3, and C4 were also within normal levels. She had no thrombotic episode in the 24 months postoperatively, although no anticoagulant medication was administered. To the authors' knowledge this case is the first report of segmental intestinal infarction in transient antiphospholipid syndrome in the pediatric population.
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PMID:Transient antiphospholipid syndrome in an infant with segmental small bowel infarction. 1469 90

A 39-year-old white woman presented with a history of aortoiliac occlusive disease diagnosed in 1992 attributed to oral contraceptive use. Shortly thereafter, aortoiliac replacement was performed. Mild hyperlipidemia was diagnosed in 2001. At the current clinic visit, she presented to her primary care physician with a 3-month history of postprandial midepigastric abdominal pain relieved by vomiting and a 30-pound weight loss. Her evaluation included an esophagogastroduodenoscopy, a colonoscopy, and an abdominal ultrasound, all of which were within normal limits. Because of her medical history, the patient underwent an arteriogram, which revealed brachiocephalic stenosis (Figure 1), occlusion of the left subclavian artery (Figures 2a and 2b), and narrowing of the superior and inferior mesenteric arteries (not shown). Since she had discontinued her oral contraceptives in 1992 and her hyperlipidemia was mild, the rheumatology service was consulted to evaluate this patient. On physical examination, she had decreased left brachial and radial pulses and a right carotid bruit. Laboratory evaluation revealed a normal complete blood count, comprehensive metabolic panel, erythrocyte sedimentation rate, and C - reactive protein. Subsequent testing included a prothrombin time, activated partial thromboplastin time, protein S, protein C, reptilase time, antithrombin III, anticardiolipin antibody, antiphospholipid antibody, lupus anticoagulant, homocysteine, RPR, and a lipid profile. All test results were within normal limits. Due to the severity of her abdominal pain, the patient underwent superior mesenteric artery (SMA) bypass surgery. Sections from the aorta resected in 1992 are shown in Figures 3 and 4.
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PMID:Pathology case of the month. 39-year-old woman with abdominal pain and weight loss. Takayasu's arteritis (TA). 1555 91

We report clinical findings, risk factors and neurological and cognitive long-term outcome in three Italian children aged 7, 8 and 5, respectively, who experienced cerebral venous sinus thrombosis (CVST). All children presented with headache, associated to nausea, vomiting and papilloedema. None suffered from epileptic seizures. In two of them a paresis of the sixth cranial nerve with diplopia was found. Diagnosis was confirmed by magnetic resonance imaging angiography (angio MRI) in all cases. In all patients plasma levels of protein C, protein S, antithrombin III (AT III), antiphospholipid antibodies (ApA) and homocysteine were detected. Furthermore, factor V Leiden mutation, prothrombin mutation G20210A and MTHFR mutation were searched for. A Protein C reduction was detected in all patients at onset; this finding, however, was not confirmed at follow-up in all of them. At one-year follow-up, neurological examination was normal in all children and neuropsychological assessment, aimed at excluding linguistic and non-linguistic cognitive deficits, revealed normal performances in two of them. In the third child, cognitive assessment confirmed a previously diagnosed developmental dyslexia.
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PMID:Cerebral venous sinus thrombosis in childhood: clinical aspects and neurological and cognitive long-term outcome in three cases. 1562 88


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