Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0000737 (abdominal pain)
 31,184 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Recurrent abdominal pain in a two years old toddler and a sixteen years old girl were caused by huge trichobezoars, which in one case had a weight of 412 g and provoked a gastric ulcus. Removal was possible only by gastrotomy. Deprivation in infancy and childhood in combination with slight mental retardation had led the teenager to trichtillomania and -phagia for years and finally to a bezoar. A short historic survey of the variety and therapy of bezoars is added.
 ...
PMID:[Trichobezoar. A rare cause of recurrent upper abdominal pain]. 147 Jan 87

A 49-year-old female with mental retardation was admitted with suspected renal insufficiency with a raised creatinine (5.1 mg/dl), hyperkalaemia (5.6 mmol/l), and a 12-hour history of diffuse abdominal pain and persistent vomiting. On admission, she had a haematoma around the right shoulder and arm-pit, swelling of the right upper-arm, and severe limitation of movement of the right hand. These injuries were the result of trauma some 5 days previously. She was a long-term inpatient in a psychiatric clinic, with a history of autoaggressive behaviour, which had led to several fractures in the past as a result of falls. The creatinine kinase was elevated to 6680 U/l. The suspected diagnosis of acute oliguric renal failure due to rhabdomyolysis was confirmed by the presence of marked myoglobinuria (409 ng/ml). Because of the delay in diagnosis, acute renal failure developed, and the patient required haemodialysis for 20 days. Because of their many predisposing factors, psychiatric patients represent a special risk group for development of rhabdomyolysis, recognition of which is often delayed.
 ...
PMID:[Acute myoglobinuric kidney failure as a consequence of autoaggressive behavior in mental retardation]. 803 54

Colonic volvulus in children is a rare, but serious and important differential diagnosis in acute abdominal illness. Our patient with Cornelia de Lange's syndrome, was admitted with an acute onset of abdominal pain and in a critical condition. Explorative laparotomy revealed a caecal volvulus with necrosis of the distal ileum, caecum and proximal colon. The syndrome is characterized by typical facial expression, both growth and mental retardation, and various gastrointestinal and cardiac anomalies. Predisposing factors contributing to volvulus in this syndrome are mental retardation and a higher incidence of malrotation and nonfixation of the caecum and ascending colon. The parents of children with Cornelia de Lange's syndrome should therefore be counselled so that they are able to provide essential information in the event of their children experiencing acute illness.
 ...
PMID:[Cecal volvulus as a complication in Cornelia de Lange syndrome. A case report and literature review]. 961 83

Lysinuric protein intolerance (LPI) results in low serum L-arginine, hyperammonemia, mental retardation, thrombocytopenia, and an increased frequency of bowel movements. Our objective was to evaluate the effects of low serum L-arginine, the essential substrate for reactions catalyzed by nitric oxide synthetase (NOS), on the serum nitric oxide (NO) level and coagulation activity in a patient with LPI. A 37-year-old Japanese man who presented with abdominal pain and subnormal fasting levels of serum L-arginine and L-lysine was found to have LPI. The result of oral administration of diamino acids was an increased in urine and a decrease in serum, thus confirming the diagnosis. A decrease in the platelet count and an increase in the plasma levels of thrombin-antithrombin III complex (TAT) and fibrin degradation products (FDPs) indicated the presence of subclinical intravascular coagulation. Serum levels of NO derivatives and L-arginine were determined after intravenous administration of L-arginine. The effects of intravenous L-arginine or transdermal nitroglycerin on the plasma level of TAT were also investigated. Serum levels of NO derivatives were significantly reduced in the LPI patient versus the healthy control group (n = 5). Intravenous administration of L-arginine increased the serum level of NO derivatives and the platelet count and reduced plasma TAT and FDP levels. The plasma level of TAT was also reduced by transdermal nitroglycerin. A decrease in the serum level of L-arginine in patients with LPI appears to result in a decrease in NO production. The improvement in plasma TAT levels produced by administration of intravenous L-arginine or transdermal nitroglycerin suggests that intravascular coagulation is exacerbated by the decrease of NO production in patients with LPI.
 ...
PMID:Reduced nitric oxide production by L-arginine deficiency in lysinuric protein intolerance exacerbates intravascular coagulation. 1048 53

Dutch type periodic fever (DPF) is an autosomal recessive hereditary fever syndrome. Cases have been reported worldwide, the majority from France and The Netherlands. From infancy the patients suffer fever attacks that recur every 2-8 weeks, often precipitated by immunizations, infections or emotional stress. Fever lasts 2-7 days and can be accompanied by malaise, headache, diarrhea, abdominal pain, vomiting, skin rashes, arthralgia, arthritis, tender lymphadenopathy, hepatosplenomegaly, and oral and genital ulcers. Laboratory evaluation during fever shows granulocytosis and elevated acute phase reactants. DPF is caused by a deficiency of the enzyme mevalonate kinase (MK). Besides DPF, the spectrum of MK deficiency includes a severe phenotype, mevalonic aciduria (MA). MA patients have less residual MK activity, leading to substantially higher urinary mevalonic acid excretion than in DPF. Mevalonic aciduria is characterized by mental retardation and dysmorphic features in addition to the clinical features of DPF. At the genomic level, several mutations of varying severity have been identified. The DPF phenotype is caused by one particular mild missense mutation. Most patients are compound heterozygotes for this mutation and a more severe mutation. The mechanism by which MK deficiency leads to fever is not understood. The vast majority of DPF patients have persistently elevated serum IgD and can be classified as having hyperimmunoglobulinemia D and periodic fever syndrome (HIDS). Conversely, most HIDS patients have MK deficiency and hence DPF, but the two disorders do not overlap entirely.
 ...
PMID:Mevalonate kinase deficiency and Dutch type periodic fever. 1094 35

Familial adenomatous polyposis (FAP) is an autosomal dominant disorder that typically presents with colorectal cancer secondary to extensive adenomatous polyps of the colon. The molecular basis and clinical phenotype of FAP are well known. Recurrent episodes of severe abdominal pain and a positive fecal occult blood test in an 18-yr-old boy with mild mental retardation and slight dysmorphic features of the face, head, and skeletal system led to the diagnosis of FAP. The clinical workup revealed the presence of over 100 sessile colonic polyps but no polyp formation in the upper GI tract, no cancer development, nor other FAP-associated lesions. To find out whether there is an association between mental retardation and FAP we performed a chromosome analysis including comparative genomic hybridization and an indirect genotype analysis with polymorphic markers from the APC gene region. Cytogenetic analysis showed an interstitial deletion of chromosomal region 5q that was confined to the region 5q21-q22 by comparative genomic hybridization. The deletion, spanning about 10 centimorgans, encompassed the complete APC gene and can be considered as causative for FAP. Moreover, molecular genetic analysis with polymorphic markers flanking the APC gene demonstrated a de novo deletion on the paternal chromosome. Cytogenetically detectable deletions on chromosome 5 including the APC gene generally lead to an associated gene deletion syndrome. Individuals who present with mild mental retardation and dysmorphic features should therefore be investigated for chromosomal deletions. If the deletion encompasses the APC gene, these patients are at high risk of developing FAP and associated complications.
 ...
PMID:A de novo deletion of chromosome 5q causing familial adenomatous polyposis, dysmorphic features, and mild mental retardation. 1169 43

Hypoplasia of the descending thoracic and abdominal aorta is a very rare condition and its etiology is poorly understood. Associations with congenital and acquired disorders have been reported. In this article we present the case of a 24-year-old woman with hypoplasia of the thoracic and abdominal aorta and Williams-Beurensyndrome. This rare syndrome is attributed to deletions of genes on chromosome 7, among other the elastin-gene, and is characterized by cardiovascular anomalies, dysmorph facial features and mental retardation. The patient presented with a history of severe hypertension and recurrent abdominal pain since childhood. Diagnosis was established by duplex-sonography and magnetic resonance angiography. The patient was treated by an aortoaortic bypass from the ascending to the infrarenal aorta with reinsertion of the visceral and the right renal arteries. It is essential to recognize the condition early to withhold high morbidity and mortality resulting from long standing severe hypertension.
 ...
PMID:[Hypoplasia of the descending thoracic and abdominal aorta in Williams-Beuren syndrome]. 1596 97

X-linked alpha thalassemia mental retardation (ATR-X) syndrome is associated with profound developmental delay, facial dysmorphism, genital abnormalities, and alpha thalassemia. Patients with ATR-X syndrome frequently present with gastrointestinal problems, in particular feeding difficulties, regurgitation and vomiting, abdominal pain, distension, and chronic constipation. Parental reports of prolonged food refusal and distress in these children are common and although these episodes are suspected to be gastro-intestinal in origin they are rarely investigated. Death in early childhood from aspiration of vomitus or from pneumonia presumed to be secondary to aspiration has been recorded in a number of ATR-X cases. In this report we review the gastrointestinal phenotype of ATR-X syndrome in 128 cases. We also demonstrate that in two siblings, regurgitation was secondary to gastric pseudo-volvulus, a condition in which the stomach does not have a normal system of peritoneal ligaments and changes position with possible torsion around itself. Furthermore, ultra-short Hirschsprung disease with colonic hypoganglionosis was shown and this may contribute to the severe constipation affecting these children.
 ...
PMID:Gastrointestinal phenotype of ATR-X syndrome. 1668 41

Symptoms of fecal impaction extend from constipation, anorexia, nausea, vomiting and abdominal pain, to full blown sepsis. We present the case of a patient with cerebral palsy and mental retardation, who presented to the Emergency Department with a 3-day history of diffuse abdominal pain and fecal incontinence. Evaluation revealed severe fecal impaction. The patient developed systemic inflammatory response syndrome (SIRS), with negative workup for underlying etiology. He responded well to digital disimpaction and antibiotics. Our case illustrates the serious sequelae of fecal impaction, which should be considered in patients with neurologic disorders and SIRS.
 ...
PMID:Fecal impaction and systemic inflammatory response syndrome in a young male with cerebral palsy. 1671 17

The eventration of diaphragm is usually found incidentally on chest X-ray or sometimes presented as acute gastric volvulus. However, colonic volvulus on splenic flexure area complicated by diaphragmatic eventration is extremely rare. A 25 year old man complained of upper abdominal pain for three days. He had a history of brain injury during infant period, and had epilepsy and mental retardation. Plain chest X-ray showed left diaphragmatic eventration and marked dilatation of colon on splenic flexure area which had not been changed for last three years. Barium enema showed bird beak appearance on distal colon near the splenic flexure. Colonoscopic reduction failed. After decompression with rectal and nasogastric tubes, colonic volvulus was relieved. To prevent the recurrence of volvulus, we performed segmental resection of left colon including splenic flexure area and repaired the left diaphragmatic eventration. After the operation, the patient had no further recurrent episode of volvulus although ileus persisted.
 ...
PMID:[Chronic recurrent volvulus of the colonic splenic flexure associated with the eventration of left diaphragm]. 1816 32


1 2 Next >>