Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042963 (vomiting)
 31,883 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Three patients suffering from an absence of the enteric nervous system are reported. Two sisters presented with severe vomiting shortly after birth and dilatation of the intestine proximal to a stenosis. There was an absence of the enteric nervous system throughout the entire length of the intestine distal to the duodenum. A boy presenting an ileus was found to suffer from an aganglionosis of the entire colon. There was also an absence of neuronal bodies and nerve fibers in the small intestine. The final diagnosis was made by histochemical and immunocytochemical stains for acetylcholinesterase, lactate hydrogenase, neuron-specific enolase, protein S-100, and substance P. In the literature, 13 other patients have been reported. On the basis of differences of symptoms, incidence, sex ratio, genetics, and, presumably, pathogenesis between absence of the enteric nervous system and aganglionosis, it is assumed that the two diseases are separate entities.
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PMID:Absence of the enteric nervous system in the newborn: presentation of three patients and review of the literature. 351 82

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

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

Carcinoid tumors arise from enterochromaffin or enterochromaffin-like cells that are present in the gastrointestinal tract, ovaries, and lungs. Over 90% of carcinoids originate in the gastrointestinal tract with the most common sites in order of frequency being the appendix, terminal ileum, rectum, and the remainder of the colon. Gastroduodenal and pancreatic carcinoids are infrequent. Carcinoid syndrome is associated with small intestine carcinoids in about 40%. Common symptoms include intermittent intestinal obstruction with crampy abdominal pain and vomiting, and weight loss. Upper gastrointestinal bleeding with melaena or hematochezia is a relatively rare early symptom of patients with small intestine carcinoid tumors. We report on a 69-year-old man, treated with acenocoumarol for previous thromboembolic complications of hereditary protein S deficiency. He was admitted to hospital because of an acute episode of hematochezia followed by melaena. Endoscopic evaluation of esophagus, stomach, duodenum and colonoscopy revealed no apparent source of bleeding. Selective angiographic evaluation of mesenterial arteries showed pathologic vasculature approximately in mid jejunum. Laparotomy revealed bleeding from a small submucosal malignant carcinoid tumor in small intestine and multiple large metastases within mesenteric tissue. Segmental resection of small intestine and exstirpation of the metastatic masses was performed. Postoperative period was uneventful. Cytotoxic chemotherapy in this adjuvant setting has not been recommended. Small intestinal carcinoid tumor has to be considered as a rare cause of gastrointestinal bleeding with melaena or hematochezia. Nevertheless, bleeding is a relatively rare early symptom of patients with small intestine carcinoid tumor.
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PMID:[Gastrointestinal hemorrhage needing blood transfusion as the first manifestation of small bowel carcinoid tumor]. 1103 87

Thrombosis of deep cerebral veins is a rare condition, and is associated with a poor prognosis. We report four new cases observed between 1994 and 1997. All four cases were women, aged less than 45 years. Initial symptoms associated alteration of consciousness, change in mental status, progressive headache and vomiting. We observed also uni or bilateral signs of long tract injury. In three cases, diagnosis initially suspected by CT scan was confirmed with encephalic MRI. For the last patient, conventional angiography was needed. Thrombosis affected straight sinus, vein of Galien and internal cerebral veins in all patients. Basilar veins were also affected in one patient, without dural sinuses extension. Lateral sinus was involved in two others cases, and superior sagittal in the last patient. Etiology remains undetermined in one patient, associated with post-partum, use of oral contraceptive pill, and familial protein S deficiency, one case each. Outcome was favorable in all four cases with anticoagulation therapy. Precocity of diagnosis is determinant and MRI is usefull in this issue. These observations show that evolution of deep veins thrombosis can be favorable, without needing fibrinolytic therapy.
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PMID:[Thrombosis of deep cerebral veins in form adults: clinical features and diagnostic approach]. 1103 13

Idiopathic pylephlebitis and primary sclerosing peritonitis are two highly unusual entities. To our knowledge, the association of the two diseases has not been described previously. We report a 42-year-old patient with a protein S deficiency who presented with fever and chills, in whom idiopathic pylephlebitis was diagnosed. A year later, the patient was readmitted because of recurrent vomiting and weight loss. An exploratory laparotomy yielded diagnosis of sclerosing peritonitis, which resolved after surgery. The short time interval between the processes suggests that they were related to each other, and also to the protein S deficiency.
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PMID:Idiopathic pylephlebitis and idiopathic sclerosing peritonitis in a man with protein S deficiency. 1124 60

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

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

A 25-year-old, 7-weeks pregnant woman was admitted to the Nagaoka Red Cross Hospital in a state of confusion, following fever, headache and vomiting. Brain CT and MRI showed swelling in the bilateral thalami, basal ganglia and splenium of corpus callosum, and thrombosis of the internal cerebral veins and straight sinus. Initial treatment by intravenous heparin and glycerol was successful, and she regained her consciousness, leaving antegrade amnesia and childish character change. Her free protein S antigen was 32% (normal 60-127) and subsequently rose to 70% after delivery. She was diagnosed as having secondary protein S deficiency associated with pregnancy. Because warfarin can be teratogenic, subcutaneous heparin injection was prescribed in order to prevent thrombosis and the patient subsequently had a successful delivery. This was the first case in Japanese of successful delivery after subcutaneous heparin treatment in a patient with cerebral venous thrombosis.
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PMID:[Successful delivery following subcutaneous heparin administration in a 7-weeks pregnant patient suffering from cerebral venous thrombosis due to secondary protein S deficiency]. 1664 38


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