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1,254 Possible Causes for Mutations in the Cystinosis Gene, Subsarcolemmal Accumulation of Normal Mitochondria, Volvulus

  • Cystic Fibrosis

    Intestinal volvulus is a life-threatening emergency requiring prompt surgical management.[ncbi.nlm.nih.gov] This effect has subsequently been demonstrated in a number of models of other diseases caused by stop mutations, including muscular dystrophy, 15 Hurler's syndrome, 16 cystinosis[doi.org] It can cause rectal prolapse, intussusception, volvulus and obstruction.[patient.info]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Intestinal Obstruction

    Unlike many cases, the patient did not present with typical signs of volvulus.[ncbi.nlm.nih.gov] OBJECTIVES: Small bowel volvulus is a rare disease, which is also challenging to diagnose.[ncbi.nlm.nih.gov] Intussusceptions and sigmoid volvulus were the leading causes of small and large bowel obstruction.[ncbi.nlm.nih.gov]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Small Bowel Obstruction

    We present a case of primary ileal volvulus with a gangrenous segment and a brief overview of the current literature.[ncbi.nlm.nih.gov] Direct injury and obstruction to the small bowel have been described but volvulus due to mesenteric penetration has not.[ncbi.nlm.nih.gov] Small bowel obstruction is a clinical condition commonly caused by postoperative adhesion, volvulus, intussusceptions, and hernia.[ncbi.nlm.nih.gov]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Endometriosis

    A) Adhesions B) Diabetic neuropathy C) Inguinal hernia D) Mesenteric ischemia E) Sigmoid volvulus Answer: A) 48.[pejoweb.com]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Ileus

    Volvulus See also the separate article on Volvulus and Midgut Malrotations. Sigmoid volvulus can be treated conservatively in many cases.[patient.info] Apparently, the volvulus had been caused by extensive use of contrast medium resulting in increased intestinal mobility.[ncbi.nlm.nih.gov] The sigmoid colon is the most common site of volvulus and accounts for 5% of large bowel obstruction.[patient.info]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Juvenile Cystinosis

    […] and intermyofibrillar accumulation of mitochondria in muscles ( mitochondria stain red).[amboss.com] Genatlas disease for CTNS Gene cystinosis,infantile,nephropathic type Additional Disease Information for CTNS A novel gene encoding an integral membrane protein is mutated[genecards.org] Abstract Purpose In this report, we document the CTNS gene mutations of 28 Iranian patients with nephropathic cystinosis age 1–17 years.[revistanefrologia.com]

    Missing: Volvulus
  • Recurrent Small Bowel Obstruction

    Two intubations were for midgut volvulus, 13 for small intestinal obstruction after extensive adhesolysis, and 10 as an adjunct to the operative management of enterocutaneous[ncbi.nlm.nih.gov] The etiology included adhesions (38%), incarcerated ventral incisional hernias (32%), Meckel diverticulum (7%), stricture (14%), volvulus (3%), intussusception (4%).[ncbi.nlm.nih.gov] Laparoscopic management of a primary small bowel volvulus: a case report.[journals.plos.org]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Short Bowel Syndrome

    Laparotomy revealed small bowel diverticulosis with very short mesentery leading to volvulus of near total small bowel.[ncbi.nlm.nih.gov] Probable primary midgut volvulus was diagnosed. Early diagnosis of primary volvulus of the small intestine is difficult.[ncbi.nlm.nih.gov] RESULTS: Forty-three patients were divided into 4 groups according to aetiology (gastroschisis, volvulus, necrotizing enterocolitis (NEC), intestinal atresia).[ncbi.nlm.nih.gov]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Volvulus

    There are several types of volvulus such as sigmoid volvulus, cecal volvulus, gastric volvulus, volvulus neonatorum and volvulus of the small intestine.[symptoma.com] […] of volvulus, especially anal volvulus.[en.wikipedia.org] Volvulus of the colon. Incidence and mortality. Ann Surg 1985; 202 (1) 83-92 14 Hellinger MD, Steinhagen RM. Colonic volvulus.[doi.org]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Jejunal Diverticulosis

    A volvulus, which is torsion of the bowel and its mesentery, is a medical emergency.[ncbi.nlm.nih.gov] Obstruction can be due to enterolith, adhesions, intussusception, and volvulus.[ijms.sums.ac.ir] Exploratory laparotomy confirmed intestinal malrotation with chronic midgut volvulus, together with a duodenal diverticulum and extensive jejunal mesenteric diverticulosis[nejm.org]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria

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