Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of warfarin-induced intramural hematoma and hemorrhagic infarction of the small intestine is described, and the literature on this adverse effect is reviewed. A 32-year-old white woman who had been receiving warfarin and carbamazepine came to a clinic complaining of lower back and stomach pain. She had a history of iliofemoral deep venous thromboses and seizures. A pelvic sonogram showed a large quantity of fluid present. Her prothrombin time (PT) was 29.2 sec. Her hemoglobin concentration and hematocrit were within the normal ranges. The patient was admitted to the hospital when her back pain increased and she vomited. The warfarin was discontinued. On day 5 the patient was still having abdominal pain and nausea. Her hemoglobin concentration and hematocrit had fallen to 6.6 g/dL and 20%, although her PT had decreased to 12.5 sec. On the same day, the patient underwent an exploratory laparotomy, and an indurated and ischemic area of jejunum was found and resected. The pathology report indicated the presence of hemorrhage and infarction consistent with an anticoagulant-related disorder. About 100 cases of intramural hematoma of the small intestine induced by anticoagulant therapy have been reported. Most patients are white males about 60 years of age. The sites most frequently involved are the duodenum and proximal jejunum. Symptoms include constipation, nausea, vomiting, and abdominal pain. Laboratory test and radiological findings are fairly nonspecific, but when found together in a patient receiving an anticoagulant, the diagnosis can be made with some confidence. Management may be complicated by the bleeding disorder, the intestinal obstruction if present, and the original indication for warfarin therapy.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Warfarin-induced intramural hematoma of the small intestine. 161 15

Smuggling of narcotics by internal concealment has increased considerably worldwide, including in the Scandinavian countries. During the period 1988-92, Norwegian custom officials reported 245 seizures where packets of narcotics had been inserted into the rectum or vagina, or had been swallowed. Based on two fatal cases as a result of intestinal obstruction and cocaine intoxication respectively, this report summarizes the main features of the "body packer" syndrome.
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PMID:[Smuggling of narcotics in body cavities]. 794 Apr 55

Congenital duodenal webs are rare lesions, usually detected during early infancy because of signs of high intestinal obstruction. The occasional patient escapes both symptoms and detection until adolescence or adulthood. This report concerns two cases of congenital duodenal web at different ages and with different clinical manifestations. Case 1, a six-month-old male, was admitted because of abdominal distention and vomiting. Case 2, a 13-year-old boy, was referred here for further evaluation of recurring seizure attacks, elevated blood urea nitrogen and creatinine and hyponatremia. Duodenotomy and excision of the web performed for both patients. Complete amelioration of all symptoms was then observed at Outpatient Clinic follow-up for one year.
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PMID:Congenital duodenal web in late infancy and childhood: a report of two cases. 803 46

It is often thought that survivors of congenital diaphragmatic hernia (CDH) have an isolated problem related to lung hypoplasia, and little data exist regarding the extrapulmonary problems of high-risk CDH patients who do survive. In 1990, the authors began a multidisciplinary follow-up clinic for CDH patients. Members of the program include representatives from the departments of surgery, pulmonary medicine, development, nursing, and nutrition. Since this program began, the authors have followed up on 33 infants who survived after treatment of high-risk CDH, ie, those who were symptomatic within 6 hours of birth. Twenty patients were treated with extracorporeal membrane oxygenation (ECMO). Neurological problems were common in these patients: seven children (21%) required hearing aids, and seven others had abnormal results with brain-stem auditory evoked response (BAER) testing. Extraaxial fluid collections or enlarged ventricles were present on head computed tomography scans of 10 children, and four children had clinical seizure activity. Fifteen patients had developmental delays, which improved rapidly once the children began to thrive. Six patients required eyeglasses or had strabismus, and one patient is congenitally blind. There were a variety of problems related to growth and nutrition, with six patients needing fundoplications, and 13 patients below the fifth percentile for weight. Of 10 patients with patch repairs, two had recurrent hernias. Six others required surgery for bowel obstruction. Eleven patients had pectus excavatum, usually mild, and four had mild to moderate degrees of scoliosis. There were undescended testicles in five boys, vesicoureteral reflux in two patients, and kidney stones in two patients.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Congenital diaphragmatic hernia: the hidden morbidity. 817 2

Shigella dysenteriae type 1 causes the most severe form of bacillary dysentery. The spectrum of illness ranges from mild watery diarrhoea to severe bloody diarrhoea. Shigellosis is often associated with intestinal complications, including intestinal perforation, intestinal obstruction, toxic dilatation of the colon, and prolapse of the rectum; systemic complications include septicaemia, hyponatraemia, hypoglycaemia, seizure, encephalopathy, haemolytic-uraemic syndrome, and malnutrition. Arthritis and conjunctivitis are rare extra-intestinal complications of shigellosis. Annually, about 110,000 patients receive treatment in the Dhaka Hospital of the International Centre for Diarrhoeal Disease Research, Bangladesh for diarrhoea and diarrhoea-associated illnesses, of which 11% are due to shigellosis. However, arthritis associated with shigellosis has not been reported from this population. Arthritis has been reported in association with infection due to S. flexneri and S. sonnei from other places. We are unaware of any reported case of arthritis in association with S. dysenteriae type 1 infections. In this report, we describe the clinical and laboratory features of a young woman who developed arthritis following S. dysenteriae type 1 infection.
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PMID:Reactive arthritis associated with Shigella dysenteriae type 1 infection. 930 97

To examine causes of newborn hospital readmission and morbidity related to early nursery discharge, we reviewed the charts of 664 newborns readmitted from home under the age of 15 days, between 1993 and 1995. Early discharge (ED) was defined as nursery length of stay of < or = 2 days. Morbidity related to ED: onset of symptoms within 1 day of ED; and in diseases with insidious onset: serum bilirubin level > 20 mg/dL (340 mumol/L), or dehydration following poor breastfeeding since birth. Seventeen percent of all readmitted infants had ED-related morbidity; 9% had major morbidity. Onset of symptoms prior to the age of 3 days occurred in 43% of ductal-dependent cardiac lesions, intestinal obstruction, seizures, and major infections. Morbidity was less pronounced in infants who were followed up within 2 days following ED. Specific findings related to subsequent morbidity were identified in the perinatal history of infants who were readmitted with major infections and with hyperbilirubinemia. Our findings suggest that: (1) close to half of the cases with acute-onset major morbidity can be identified within 3 days of birth, and (2) attention to the perinatal history and timely follow-up will contribute to a reduction in both morbidity and complications.
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PMID:Hospital readmission and morbidity following early newborn discharge. 979 30

The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is an uncommon neuromuscular disorder caused by mitochondrial dysfunctions that result in headaches, seizures, and progressive dementia. The authors describe a clinical case study of gastrointestinal manifestations in a pedigree with MELAS, in which all three children, ages 11, 8, and 6, demonstrated acute onset of intestinal obstruction. They unexpectedly showed severe abdominal distension and vomiting. Their parents had no clinical manifestation. The first female sibling underwent an emergent laparotomy because she was diagnosed to have intestinal strangulation. She had postoperative complications caused by progressive lactic acidosis and died the next day. The second and third sisters had similar onsets of the disease and were treated with gastrointestinal decompression and intravenous administration of lactate-free fluid and coenzyme Q10. Genetic testing using blood samples showed an A-to-G point mutation at nucleotide position 3243 in the tRNALeu(UUR) region in the mitochondrial DNA. In MELAS children who demonstrate acute onset of gastrointestinal manifestations, a careful review of family history and an elevation of serum lactate and pyruvate levels may enable a differential diagnosis to be made of acute abdomen to avoid unnecessary surgical intervention.
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PMID:Familial occurrence of intestinal obstruction in children with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). 986 67

Nineteen cases of surgically proven symptomatic pediatric small bowel intussusceptions (SBI) were retrospectively reviewed. Clinical presentations included vomiting (89.5%), abdominal pain and/or irritable crying (89.5%), fever (52.6%), bloody stools (26.3%), palpable abdominal masses (15.8%), hematemesis (10.5%), jaundice (5.3%), and seizures (5.3%). The duration between symptom onset and hospitalization ranged between 20 and 336 hours (average 75.8 hours). Two patients with suspected appendicitis and small bowel obstruction were operated on promptly. Sonograms revealed target lesions (average diameter 2.9 cm) suggestive of intussusception in 13 out of 17 patients, with 10 lesions located in the paraumbilical or left abdominal regions. Barium enemas in 12 of these 13 patients demonstrated no colonic lesions. Diagnosis and surgery were delayed in 16 patients (average delay = 32 hours). The remaining 1 patient with positive sonographic findings underwent early surgery after computed tomographic (CT) confirmation of SBI. Surgery revealed ileoileal intussusceptions in 11 patients, jejunojejunal in 4, jejunoileal in 3, and duodenojejunal in 1. Eight patients had lead points. Bowel complications (ischemia, necrosis, or perforation) occurred in 8 patients. The duration between symptom onset and surgery in patients with bowel complications was significantly longer than for patients without complications (p = 0.0026). In conclusion, delayed diagnosis and surgical treatment in symptomatic pediatric patients with SBI were common, leading to a high rate (42%) of bowel complications. Sonographic demonstration of a 2-3 cm target lesion, especially if paraumbilical or left abdominal, is suggestive of SBI and may obviate the need for a barium enema; however, CT is helpful for confirming SBI. In symptomatic SBI, once diagnosed, early surgical referral is strongly recommended.
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PMID:Small bowel intussusception in symptomatic pediatric patients: experiences with 19 surgically proven cases. 1191 Apr 76

Wolf-Hirschhorn syndrome (WHS, OMIM 194190) is a chromosomal disorder characterized by retarded mental and physical growth, microcephaly, Greek helmet appearance of the facies, seizures/epilepsy. Closure defects of lip or palate, and cardiac septum defects occur in 30-50% of cases. Its cause is a deletion in the short arm of chromosome 4. We present a male patient, born after 37 weeks gestation, as the fourth pregnancy of non-consanguineous healthy parents, with unilateral cleft lip and palate, hypertelorism, a right-sided ear tag, and mild epispadias. At age 10 weeks he developed acute respiratory distress and acute bowel obstruction requiring emergency laparotomy. This revealed a left-sided posterolateral diaphragmatic defect, type Bochdalek, with incarceration of the small intestines necessitating major bowel resection. Clinical genetic investigation suggested a chromosome anomaly, but regular karyotyping was normal. However, FISH analysis showed a microdeletion in the short arm of chromosome 4 (4p-), consistent with WHS. A combination of this syndrome with congenital diaphragmatic hernia (CDH) has been rarely described. CDH can present either as an isolated defect at birth, or with multiple congenital abnormalities, or as part of a defined syndrome or chromosomal disorder. Therefore CDH, although not common in WHS, can lead to its diagnosis relatively early in life. We strongly recommend a clinical genetic evaluation of each CDH patient with facial anomalies taking into consideration 4p- deletion syndrome.
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PMID:Early diagnosis of Wolf-Hirschhorn syndrome triggered by a life-threatening event: congenital diaphragmatic hernia. 1510 10

The authors describe a clinical trial of 170 patients who received clozapine over a ten year period between September 1989 and September 1999. It is a retrospective study, describing individual responses. Each patient was his own control before and with treatment. The study also compared individuals within the group of patients whose treatment was stopped and those whose treatment was continuing at the time of the study. Data was collected by analysing all patients' records and by direct enquiry of prescribers. Diagnosis was according to DSM IV criteria. Assessment included: socio-epidemiological data (sex, age, marital status and family situation, education, military and professional status, level of benefits and social support); data related to the illness (age of onset, age at first contact with a psychiatrist, diagnosis, level of hospital contact); data concerning prescriptions of drugs (indications, average dose, duration of treatment, side effects, reason for stopping and other drugs taken at the same time); 170 patients were prescribed clozapine: 96 of them were continuing to take clozapine at the time of the study while 74 patients had stopped. The characteristics of the two groups are described. They show the severity of the illnesses concerned: early onset of illness and early psychiatric care, the absence in many patients of a partner or family, their low level of employment, high dependence on social assistance. Concerning diagnostic criteria, the range of diagnoses included mostly paranoid schizophrenia, then unclassified schizophrenia then schizoaffective disorders. The indication of clozapine prescription was in the majority of the cases (87%) an inefficiency of classical neuroleptic therapy. The average dose was 401 mg per day: 388 mg for the group continuing treatment; 417 for the group which had stopped their treatment. For the patients who continued taking clozapine, the average time of treatment was just over 4 years, with a maximum of 110 months. The tolerance of clozapine was good, with 35% not suffering any side effects. Neutropenia was the commonest side effect (4.1% - a higher incidence than previously reported with one case only of agranulocytosis (0.59%). The other adverse effects were in accordance with known data: sedation affected 22.4% of patients; hypersalivation 13.5%; postural hypotension 7.6%; malocclusion 7.6%; weight gain (>5 kg) 7.1%. Treatment was stopped for side effects in 17.1% of patients; for ineffectiveness in 14.7% and 3% of patients died during treatment (their death attributed to clozapine) from seizures, intestinal obstruction or agranulocytosis. Clozapine significantly reduced the need for other associated psychotropic drugs. 25.3% of all patients were on monotherapy when on clozapine compared with 6.5% before (31.2% compared with 3.1% for those patients continuing treatment). The need for supplementary medication to reduce side effects was much less. However 22% of patients taking clozapine at the time of the study are still on an anticholinergic drug. On the basis of the analysis of 5 successive terms of treatment lasting 12 months, we have shown that for each patient: clozapine significantly reduces the length of hospitalisation compared with standard neuroleptics; it allows for out patient management and continuing integration in the community; the critical length of treatment for the group of patients studied with regard to the need for hospitalisation is 18 months. For patients whose treatment with clozapine was stopped, we noted that with the continued input from the team of carers even after clozapine was stopped, patients who had been seriously ill for long period of time continued to improve.
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PMID:[Ten years of clinical experience with clozapine about 170 patients]. 1523 27


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