Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042961 (volvulus)
 4,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

BACKGROUND A Bochdalek hernia (BH) is a rare congenital condition consisting of a posterolateral defect in the diaphragm. A para-esophageal hernia (PEH) is a rare variant of hiatus hernia. BH and PEH may present with gastric volvulus or incarceration, requiring emergency treatment. Minimally invasive surgery is the preferred treatment, particularly for elderly patients and patients with comorbidities. The occurrence of BH with concomitant PEH is a very rare event. We describe a case of an octogenarian patient with BH and concomitant PEH treated laparoscopically. CASE REPORT An 81-year-old male patient, without significant comorbidities, presented with a two-month history of severe chest pain and vomiting after eating. Cardiological investigations ruled out cardiac ischemia, infarction, or other cardiovascular abnormalities. Chest and abdominal computed tomography (CT) imaging demonstrated a large diaphragmatic hernia, with the entire stomach in the left thorax. Laboratory results showed mild anemia and a low iron level. The patient underwent simultaneous laparoscopic repair of a BH and a PEH with mesh reinforcement without antireflux fundoplication. The patient's postoperative recovery was uneventful. CONCLUSIONS We have presented a rare case of BH with concomitant PEH in an octogenarian that was successfully treated with laparoscopic surgery. Although these two forms of hernia are a very rare association, this case report illustrates that the surgical approach should be individualized in each patient's case to ensure a successful surgical outcome. In this case, the decision was made to suture the diaphragmatic crura and reinforce the diaphragm repair with mesh, rather than by fundoplication.
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PMID:A Rare Case of Bochdalek Hernia with Concomitant Para-Esophageal Hernia, Repaired Laparoscopically in an Octogenarian. 2918 50

Lymphatic filariasis and onchocerciasis are neglected parasitic diseases which pose a threat to public health in tropical and sub-tropical regions. Strategies for control and elimination of these diseases by mass drug administration (MDA) campaigns are designed to reduce symptoms of onchocerciasis and transmission of both parasites to eventually eliminate the burden on public health. Drugs used for MDA are predominantly microfilaricidal, and prolonged rounds of treatment are required for eradication. Understanding parasite biology is crucial to unravelling the complex processes involved in host-parasite interactions, disease transmission, parasite immune evasion, and the emergence of drug resistance. In nematode biology, large gaps still exist in our understanding of iron metabolism, iron-dependent processes and their regulation. The acquisition of iron from the host is a crucial determinant of the success of a parasitic infection. Here we identify a filarial ortholog of Divalent Metal Transporter 1 (DMT1), a member of a highly conserved family of NRAMP proteins that play an essential role in the transport of ferrous iron in many species. We cloned and expressed the B. malayi NRAMP ortholog in the iron-deficient fet3fet4 strain of Saccharomyces cerevisiae, performed qPCR to estimate stage-specific expression, and localized expression of this gene by immunohistochemistry. Results from functional iron uptake assays showed that expression of this gene in the iron transport-deficient yeast strain significantly rescued growth in low-iron medium. DMT1 was highly expressed in adult female and male B. malayi and Onchocerca volvulus. Immunolocalization revealed that DMT1 is expressed in the intestinal brush border, lateral chords, and reproductive tissues of males and females, areas also inhabited by Wolbachia. We hypothesize based on our results that DMT1 in B. malayi functions as an iron transporter. The presence of this transporter in the intestine supports the hypothesis that iron acquisition by adult females requires oral ingestion and suggests that the intestine plays a functional role in at least some aspects of nutrient uptake.
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PMID:Characterization of Divalent Metal Transporter 1 (DMT1) in Brugia malayi suggests an intestinal-associated pathway for iron absorption. 2995 32

Blue rubber bleb nevus syndrome (BRBNS) is a rare disease characterised by multiple venous malformations and haemangioma in the skin and visceral organs. The lesion often involves the cutaneous and gastrointestinal tract. Most common visceral organ affected is the GIT. Most predominant region involved in the GIT is small bowel. However, vascular lesions can occur anywhere from oral mucosa to anal canal. GIT bleed is relatively slow, resulting in minor, chronic and occult blood loss. The syndrome in the GIT may also present with severe complications such as rupture, volvulus, intussusceptions and even death. Cutaneous malformations are usually asymptomatic and do not require treatment. The treatment of GIT lesions is determined by the extent of intestinal involvement and severity of the disease. Most patients respond to supportive therapy such as iron supplementation and blood transfusion. Surgical resection, endoscopic sclerosis and laser photocoagulation have been proposed for more significant haemorrhage and severe complications. Here, we present a case of BRBNS in a 13-year-old girl involving the GIT especially the large bowel, presenting with the complaints of bleeding per rectum and iron deficiency anaemia. Initially, endoscopic sclerotherapy was performed, but to no response. Hence, proceeded with surgical resection.
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PMID:Surgery for Blue Rubber Bleb Nevus Syndrome-a Case Report. 2997 59


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