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

Coeliac disease (CD) is an immune-mediated systemic disorder elicited by the ingestion of gluten (found in wheat, rye, and barley) in genetically susceptible individuals. It affects around 1% of children and leads to proximal small bowel enteropathy, although many cases may remain undiagnosed. CD classically presents with gastrointestinal symptoms of diarrhoea, abdominal pain and weight loss, although other symptoms such as iron deficiency anaemia, faltering growth, dental enamel defects, short stature, liver disease, arthropathy, mouth ulcers, etc may be the presenting feature. Breastfeeding is considered to have a beneficial role in preventing CD or at least delays onset. Community practitioners should remain aware of the classical gastrointestinal and other features of CD and make an early referral to medical professionals. Suspicion of CD should lead to antibody screening tests and the diagnosis is confirmed by an intestinal biopsy. A gluten-free diet (GFD) should always be started by paediatric dietitians and they play a vital role in educating and supporting families. Strict adherence to a GFD is essential to maintain good health and to prevent development of long-term complications.
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PMID:Recognition and management of coeliac disease in children. 2451 75

Coeliac disease (CD) is an immune-mediated genetic condition elicited by the ingestion of gluten, leading to proximal small bowel enteropathy. It affects around 1% of the population, although only a small proportion of cases are actually diagnosed. It is a multisystem disorder presenting with both gastrointestinal and extra-intestinal manifestations such as diarrhoea, abdominal pain, constipation, vomiting, iron deficiency anaemia, faltering growth, dental enamel defects, short stature, liver disease, arthropathy and recurrent aphthous ulcers. Nurses, working in different clinical settings, are best placed for early recognition and diagnosis of CD in children. Suspicion of CD should lead to immunoglobulin A (IgA)-based anti-tissue transglutaminase antibody screening tests and a diagnosis confirmed by an intestinal biopsy. Modification of European (ESPGHAN) guidelines now enables CD to be diagnosed without a small-bowel biopsy in a select group of symptomatic children. A gluten-free diet should preferably be started by paediatric dietitians. Strict adherence to a gluten-free diet is essential to maintain good health and to prevent long-term complications. A case study demonstrating some of the challenges that may be faced in children with CD in clinical practice is described. Specialist nurse-led CD clinics are gaining popularity and have been found to be equally effective in providing continuity of quality care.
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PMID:The role of nurses and dietitians in managing paediatric coeliac disease. 2712 54

BACKGROUND Juvenile hemochromatosis is a rare genetic disease that leads to intense iron accumulation. The disease onset usually occurs before the third decade of life and causes severe dysfunction in various organs. The most classical clinical findings are hypogonadotropic hypogonadism, cardiomyopathy, liver fibrosis, glycemic changes, arthropathy and skin pigmentation. However, secondary hypothyroidism is not reported in these patients. Juvenile hemochromatosis has an autosomal recessive inheritance and might be type 2A or type 2B, due to mutation in either the hemojuvelin gene (HJV) or hepcidin antimicrobial peptide (HAMP) gene. CASE REPORT A 26-year-old female patient was admitted with a recent history of diabetic ketoacidosis. Three months after that admission, she presented with arthralgia, diffuse abdominal pain, adynamia, hair loss, darkening of the skin and amenorrhea. Severe iron overload was found and findings in the hepatic biopsy were compatible with hemochromatosis. An upper abdominal magnetic resonance imaging (MRI) showed iron deposition in the liver and pancreas and pituitary MRI exhibited accumulation on the anterior pituitary. After 16 months the patient presented with dyspnea and lower limb edema, and cardiac MRI indicated iron deposition in the myocardium. The patient was diagnosed with juvenile hemochromatosis presenting with hypogonadotropic hypogonadism, cardiomyopathy, insulin-dependent diabetes mellitus, and secondary hypothyroidism. A novel homozygous mutation, c.697delC, in the HJV gene was detected. CONCLUSIONS We describe for the first time a severe and atypical case of juvenile hemochromatosis type 2A presenting classical clinical features, as well as secondary hypothyroidism resulting from a novel mutation in the HJV gene.
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PMID:Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism. 3232 22

Ureterosciatic hernia is extremely rare. In ureteral herniation, ureter prolapses occur through either the greater or lesser sciatic foramen. Atrophy of the piriformis muscle, hip joint diseases, and defects in the parietal pelvic fascia are predisposing factors for the development of ureterosciatic hernia. Most symptomatic patients have been treated surgically, with conservative treatment reserved only for asymptomatic patients. To the best of our knowledge, long-term follow-up outcomes after ureterosciatic hernia management are sparse. In this paper, we report the case of a 68-year-old woman who presented with colicky left abdominal pain. After computed tomography (CT) scan and anterograde pyelography, she was diagnosed ureterosciatic hernia with obstructive uropathy. We performed ureteral balloon dilatation and double-J ureteral stent placement. After this minimally invasive procedure, CT scan demonstrated that the left ureter had returned to its normal anatomical position without looping into the sciatic foramen. The patient remained asymptomatic with no adverse events 7 years after the minimally invasive procedures. This brief report describes ureterosciatic hernia successfully managed with minimally invasive procedures with long-term follow-up outcomes.
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PMID:Ureterosciatic hernia causing obstructive uropathy successfully managed with minimally invasive procedures. 3272 82


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