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)

Congenital chloride diarrhea (CCD) is a rare disease, manifesting with secretory diarrhea and life-threatening electrolyte imbalance during infancy. The early diagnosis of CCD is therefore necessary for the adequate treatment. The long-term prognosis of properly managed CCD is favorable. We present a case of complicated CCD with necrotizing enterocolitis. The child was born to nonconsanguineous parents of Lithuanian origin. CCD was suspected due to watery diarrhea, progressive hypochloremia, and high fecal chlorides. Despite oral electrolytes being prescribed, volvulus of small intestine developed requiring several surgical interventions. The clinical diagnosis of CCD was confirmed by molecular genetic testing of SLC26A3 , which revealed two Polish founder mutations in the DNA of the patient. The prevalence of CCD in Lithuanian neighbor Poland is approximately 1 in 200,000 live births. This is the first described case of CCD in Lithuania to our knowledge, leading to the suggestion that this disease may be underdiagnosed.
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PMID:Case Report on a Rare Disease in Lithuania: Congenital Chloride Diarrhea. 3077 50

Gastric volvulus (GV) is an uncommon pathology, with 10-20% of cases occurring in children, typically before one year of age. It often occurs in people with congenital diaphragmatic hernias, intestinal malrotation, eventration of the diaphragm, paraesophageal hernias, wandering spleens, asplenism, or intra-abdominal adhesions. We report a rare case of chronic GV after left hemihepatectomy for hepatoblastoma in a child. The patient was a 9-year-old boy who complained of upper abdominal pain and postprandial upper abdominal distension for one year. At the age of 4 months, he was diagnosed with hepatoblastoma and had undergone left hemihepatectomy. The upper gastrointestinal contrast study revealed chronic organoaxial gastric volvulus. After a surgical procedure involving adhesiolysis and an anterior wall gastropexy, the patient improved and the symptoms resolved. Although GV is a rare disease, it should be suspected in a patient with a previous abdominal surgical history who is complaining of abdominal distension and pain.
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PMID:Chronic Gastric Volvulus as a Late Complication of Hepatectomy for Hepatoblastoma in a Child: A Case Report. 3177 29

Gastric volvulus is the medical situation that a stomach is twisted beyond the physiological range. It is a rare disease which is hard to experience in routine medical examination. Principally surgical treatment is essential for the acute type. However, the conservative therapy should be attempted in some cases, such as decompression of a stomach with a nasogastric tube, endoscopic reduction and so forth. Concerning surgical operation, the base is reduction of the torsion and immobilization of stomach. Recently, laparoscopic surgery is performed for the case that the general condition is stable or chronically progressive in the early stages. Percutaneous endoscopic gastrostomy (PEG) had also been performed for gastric immobilization. However, the recurrences and problems of twisting around the gastrostomy site were reported in addition to the problem of cosmetic outcomes. Therefore, the case is decreasing. In this paper, we present two cases on adult primary gastric volvulus. For the first case, endoscopic reduction was not good enough to release the torsion state. Then laparoscopic gastropexy was performed successfully. For the second case, we succeeded in endoscopic reduction. Since the patient had already experienced gastric volvulus, laparoscopic surgery was performed. The upper and middle gastric bodies were secured to the anterior abdominal wall, and gastric antrum to the ligamentum teres hepatis with interrupted absorbable sutures respectively. However, partial gastric volvulus recurred after ten and a several days postoperatively due to cutting off of the suture at the antrum secured to the ligamentum teres hepatis at previous surgery. Then, PEG for 2 points of lower body and antrum were performed to secure the antrum. The gastrostomies were removed 6 months after the surgery. Immobilization by laparoscopic gastropexy and PEG are useful for gastric volvulus due to their significant merit of minimum invasiveness. Concerning gastropexy, the number of sutures is very important for the secured part not to be torn off.
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PMID:Adult primary gastric volvulus, a report of two cases. 3187 78

Primary segmental intestinal volvulus is a rare disease with an aggressive clinical course. Early diagnosis and prompt management prevents life-threatening necrosis and perforation. A 1-day-old newborn girl with this disorder is reported to emphasize the presentation, imaging findings and management.
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PMID:Primary Segmental Intestinal Volvulus in a Neonate. 3188 41

In the United States and Europe, human onchocerciasis is a rare disease caused by zoonotic or anthropophilic parasites in the genus Onchocerca. The zoonotic species identified in focal areas of Europe and United States is Onchocerca lupi, and Onchocerca volvulus, the anthroponotic species, may be found among people who had lived in endemic areas of Africa, the Arabian Peninsula, or Latin America. Onchocerciasis due to O. lupi is an emergent parasitic disease, with limited diagnostic methods, in addition to the lack of information on its biology, transmission, and epidemiology. Cutaneous nodules are the disease's most prevalent manifestation but lack diagnostic specificity. To address the diagnosis of onchocerciasis at reference laboratories, we developed a duplex TaqMan real-time PCR (qPCR) method, targeting the cytochrome oxidase subunit I locus which has species-specific probes to identify and differentiate O. lupi from O. volvulus. We determined the performance of the duplex with a panel of 45 samples: 11 positives for O. lupi, six for O. volvulus, five samples with negative results for Onchocerca spp., and 23 non-Onchocerca nematodes. The duplex qPCR correctly detected 10 of 11 O. lupi- and six of six O. volvulus-positive specimens. The new duplex assay allowed the simultaneous detection and discrimination of O. lupi and O. volvulus in clinical specimens, expediting and facilitating the clinical diagnosis of O. lupi in non-endemic settings where the disease is an infrequent finding.
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PMID:Duplex Real-Time PCR Assay for Clinical Differentiation of Onchocerca lupi and Onchocerca volvulus. 3274 84

Meckel's diverticulum (MD) is the most common congenital abnormality of the gastrointestinal tract. Intestinal occlusion due to MD is a commonly observed consequence of intussusception or volvulus. Here, we report a case of an 11-year-old boy who presented to the emergency department with acute abdominal pain, bilious vomiting, and abdominal rebound tenderness. Computed tomography scan concluded a diagnosis of intestinal occlusion with no apparent cause. The patient was submitted to diagnostic laparoscopy, and mechanical occlusion by the permeable Meckel with double base was identified. A diverticulectomy by staplers was performed, and occlusion was alleviated. MD is a rare disease (for only 0.3-2.9% of the general population), and only 4.2 to 9% of patients diagnosed with MD have associated complications. MD can be a large base or a narrow base, with a mesodiverticular band but the diverticulum is usually a blind recess. In our case, the tube connected two intestinal segments. To the best of our knowledge, we have reported the first case of an MD-like permeable tube with a double basis.
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PMID:Laparoscopic Management of Mechanical Small Bowel Obstruction Secondary to Meckel's Diverticulum with a Double Basis. A Rare Anatomic Presentation. 3324 49


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