Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0085693 (acute appendicitis)
 3,606 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 5-year-old boy was hospitalized for acute appendicitis. Routine preoperative hemostasis screening resulted in a diagnosis of dysfibrinogenemia. Fifteen days after the operation the patient was re-hospitalized for deep vein thrombosis. Genetic analysis of the fibrinogen genes revealed a novel missense mutation in exon 8 of fibrinogen gamma-chain gene (FGG): c.1031A>T, p.Asp344Val (p.Asp318Val in the mature chain) in heterozygosity. Interestingly, this same residue in the fibrinogen gamma chain was previously found to be mutated to a glycine (fibrinogen Giessen IV) in another young dysfibrinogenemia patient with thrombosis. The side chain of Asp344 (or Asp318) in the gamma chain is directly involved in binding to calcium. Abnormal polymerization of fibrin in fibrinogen Giessen IV and in the novel fibrinogen Caen described here could lead to the formation of abnormal clots leading to thrombosis, in addition to abnormal thrombin binding and decreased fibrinolysis.
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PMID:A novel Asp344Val substitution in the fibrinogen gamma chain (fibrinogen Caen) causes dysfibrinogenemia associated with thrombosis. 1883 13

Calprotectin (CP) is a calcium- and zinc-binding protein of the S100 family expressed mainly by neutrophils with important extracellular activity. The aim of the current review is to summarize the latest findings concerning the role of CP in a diverse range of inflammatory and noninflammatory conditions among children. Increasing evidence suggests the implication of CP in the diagnosis, followup, assessment of relapses, and response to treatment in pediatric pathological conditions, such as inflammatory bowel disease, necrotizing enterocolitis, celiac disease, intestinal cystic fibrosis, acute appendicitis, juvenile idiopathic arthritis, Kawasaki disease, polymyositis-dermatomyositis, glomerulonephritis, IgA nephropathy, malaria, HIV infection, hyperzincemia and hypercalprotectinemia, and cancer. Further studies are required to provide insights into the actual role of CP in these pathological processes in pediatrics.
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PMID:The role of calprotectin in pediatric disease. 2417 91

Acute appendicitis is one of the commonest surgical emergencies worldwide. There is considerable variation in prevalence of appendicoliths with appendicitis. Most of the patients with appendicoliths are asymptomatic and they are not pathognomic for acute appendicitis. However, appendicoliths show increased association with perforation and abscess formation. Appendicolith are quite common, being present in 3% of general population and in nearly 10% cases of appendicitis. However, giant appendicoliths measuring over 2 centimeters (cms) are extremely rare. Computed Tomography (CT) has increased their pre-operative diagnosis considerably. Use of spectral analysis can give us the details of composition of the stone pre-operatively. We present a young male diagnosed pre-operatively on Non-Contrast Computed Tomography (NCCT) to have a giant calcium struvite appendicolith. On laparoscopy he had a 3 cm stone and an incidental Meckel's diverticulum and underwent appendectomy. The case is presented for the unique size of the appendicolith alongwith review of literature.
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PMID:Giant appendicolith: Rare finding in a common ailment. 2707 12

We present the very unusual case of a 38-year-old woman with acute appendicitis and intestinal obstruction. During surgery, a 2.5 cm gallstone impacted at the base of the cecal appendix was found as the cause of a gangrenous appendicitis and obstruction; a choledochal-duodenal fistula was found during the same surgery with no gallstones remaining in the gallbladder or elsewhere. The case was managed by appendectomy with retrieval of the gallstones and no other procedure was performed for the gallbladder or the fistula, since no other gallstone was found on examination. Previously, she was found to have a round, radio-opaque image on the right iliac fossa on imaging, initially identified as an appendicolith, but after pathological examination it turned out to contain cholesterol and calcium bilirubinate. Gallstone ileus as the cause of an obstructive gangrenous appendicitis is a very unusual disease presentation that should be kept in mind when finding an unusual appendicolith presentation in or out the appendix.
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PMID:Gallstone ileus presenting as obstructive gangrenous appendicitis. 2821 Dec 83

Calprotectin is a calcium- and zinc-binding protein of the S-100 protein family which is mainly found within neutrophils and throughout the human body. The presence of calprotectin in faeces is a consequence of neutrophil migration into the gastrointestinal tissue due to an inflammatory process. Faecal calprotectin concentrations demonstrate good correlation with intestinal inflammation and faecal calprotectin is used as a biomarker in gastrointestinal disorders. Faecal calprotectin is a very sensitive marker for inflammation in the gastrointestinal tract, and useful for the differentiation of inflammatory bowel disease (IBD) from irritable bowel syndrome (IBS). Faecal calprotectin is used for the diagnosis, monitoring disease activity, treatment guidance and prediction of disease relapse and post-operative recurrence in IBD. There may also potentially be a role for faecal calprotectin in the management of infectious gastroenteritis, acute appendicitis, peptic ulcer disease, cystic fibrosis, coeliac disease, transplant rejection and graft versus host disease. Further studies are needed to confirm its utility in these conditions. Analysis of faecal calprotectin consists of an extraction step followed by quantification by immunoassay. Over the past few decades, several assays and extraction devices including point-of-care methods have been introduced by manufacturers. The manufacturer-quoted cut-off values for different faecal calprotectin assays are generally similar. However, the sensitivities and specificities at a given cut-off, and therefore the optimum cut-off values, are different between assays. A reference standard for calprotectin is lacking. Therefore, assay standardisation is required for more accurate and traceable test results for faecal calprotectin.
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PMID:Faecal Calprotectin. 3082 14