Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare disorder commonly diagnosed in later disease stages when it prominently manifests as malnutrition. We report on a female ...patient diagnosed with MNGIE at the age of 36. She was severely malnourished due to loss of resorptive surface after several surgical procedures, gastrointestinal dysmotility, and small intestinal bacterial overgrowth. Therefore, early and aggressive total parenteral nutrition was introduced. Although no reports have shown that nutritional support can modify the clinical outcome, this case suggests that adequate nutritional support, particularly parenteral nutrition, supervised by an experienced nutritional team, may prolong the lifespan of patients with MNGIE.
The clinical picture of classical homocystinuria is diverse. This is the first report of an adult homocystinuric patient
with non-traumatic spontaneous small bowel perforation. A 47-year old man ...presented with abdominal rebound tenderness,
hypotension and tachycardia, anemia, and elevated markers of inflammation. Other routine laboratory tests were
normal. Abdominal x-ray showed no free air. An emergency laparotomy revealed jejunal perforation in the left upper quadrant.
Histologic specimen showed full-thickness nonspecific inflammation of the intestinal wall with granulocytic infiltration,
hemorrhage and necrosis. Tuberculosis, actinomycosis and typhus were histologically and clinically excluded. After
excluding all known possible causes of perforation, we presumed a causative relationship between homocystinuria and
small bowel perforation. It could be hypothesized that connective tissue weakness in homocystinuria is a result of homocysteine
interference with recombinant human fibrillin-1 fragments or cross-linking of collagen through permanent degradation
of disulfide bridges and lysine amino acid residues in proteins. DNA analysis showed three detectable mutations in the
cystathionine beta-synthetase gene, 1278T:c.833T>C, and two new mutations, V372G:c.1133T>G, and D520G:c.1558A>G
in the alternatively spliced exon 15.
The aim of this study was to determine antibodies to Tamm-Horsfall protein subunits in patients with acute pyelonephritis. The protein subunits used in this determination were prepared by chemical ...treatment of Tamm-Horsfall protein isolated from the urine of healthy individuals. Values for IgG and IgA were significantly higher (p < 0.05 and p < 0.01 respectively) in patients than in healthy persons, while IgM class antibodies were significantly higher only in the test performed with subunits obtained with 8.3 mol/l acetic acid (THP-A) (p < 0.05). Values for all three classes determined in the test with THP-A were significantly higher in patients with vesicoureteral reflux than in patients with normal radiological findings (p < 0.05). Antibodies to Tamm-Horsfall protein subunits isolated from the urine of patients with acute pyelonephritis should also be determined.
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