Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021933 (intussusception)
 3,822 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Peutz-Jeghers syndrome is a rare autosomal dominantly inherited condition with an incidence of 1/120.000 liveborns, characterized by the presence of hamartomatous gastrointestinal polyps and mucocutaneous pigmentation. This syndrome predisposes to various clinical problems such as intussusception and cancer development in different loci (gastrointestinal tract, breast and ovary). For this reason, PJS patients should undergo a surveillance protocol of the genital and gastrointestinal apparatus. Therefore, the early diagnosis of PJS in at-risk family members is very important in preventing cancer development. Germline mutations within the LKB1 or Serine Threonine Kinase (STK11) gene, located on chromosome 19p13.3, are responsible for most cases of PJS so far studied. The existence of a second locus is suspected on chromosome 19q13.4 in a minority of families. The LKB1 gene, recently cloned, encodes the Serine Threonine Kinase LKB1 and is ubiquitously expressed. The identification of the disease-causing mutation in each family makes it possible to perform a presymptomatic diagnosis; therefore, only the mutation carriers will undergo the clinical surveillance program. In this paper, the case of a PJS patient who has been surgically treated is presented. The DNA screening of the LKB1 gene in this patient has led to the identification of the causing mutation. A critical review of the literature and is also presented as well as the proposal to establish an Italian Registry of PJS.
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PMID:[Peutz-Jeghers syndrome: case report and update on diagnosis and treatment]. 1172 Dec 6

Formalin-fixed intestinal tissue specimens from 12 Mexican pediatric patients with intussusception were examined for the presence of adenovirus. Four patients (33%) had detectable adenovirus antigen in epithelial cells as determined by using immunohistochemical analysis. Two of the patients with positive immunohistochemical results had antigens in dendritic and mononuclear inflammatory cells, and 3 patients had positive results for species C adenovirus by in situ hybridization using adenovirus species-specific probes (A-F). A real-time polymerase chain reaction assay specific for species C (nonenteric) adenoviruses was used to confirm immunohistochemical results and to amplify adenovirus DNA for sequencing. A sequence similar to that for adenovirus serotype 1 was found in 1 patient, serotype 2 in another, and serotype 6 in a third; in the fourth patient, the sequence was indeterminate between serotypes 2 and 6. The assays used in this study proved useful for the identification of species C adenoviruses in formalin-fixed specimens from Mexican pediatric patients with intussusception.
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PMID:Intestinal intussusception associated with adenovirus infection in Mexican children. 1467 73

Twenty-one intussusception (IS)-associated and 59 temporally linked adenoviral isolates from clinical infections were compared. Species C (15/21 IS- and 32/59 non-IS-associated isolates) dominated. Of these, serotype 2 (AdV-2) (7/15 IS-associated isolates) and serotype 1 (AdV-1) (16/32 non-IS-associated isolates) were the most commonly identified serotypes. DNA restriction analysis of AdV-2 isolates identified six genomic types; of these, type D2 (3/7 IS- and 8/11 non-IS-associated isolates) was the dominant type after BamHI and SmaI digestion. IS-associated isolates are similar to circulating non-IS-associated strains.
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PMID:Molecular epidemiology of adenovirus isolates from patients diagnosed with intussusception in Melbourne, Australia. 1695 76

Rotavirus is the most important cause of severe gastroenteritis in infants and children worldwide. Efforts to develop a vaccine have concentrated on live oral vaccines, especially with attenuated animal viruses. Because studies with rhesus monkey rotavirus and bovine rotavirus RIT 4237 or WC3 were inconsistent, reassortant rhesus and bovine vaccines have been developed that include the gene encoding the neutralising protein, VP7, of several human strains. These efforts culminated in the licensure of a tetravalent rhesus rotavirus vaccine, in 1998. Subsequent reports linking vaccination to intussusception, however, led to withdrawal of this vaccine. Trials, nevertheless, continue with an oral bovine reassortant vaccine and an attenuated human strain, 89-12. Other strategies in preclinical development include the use of virus-like particles, DNA vaccines and subunit vaccines given by mucosal and nonmucosal routes.
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PMID:Rotavirus vaccine: current status and future prospects. 1803 73

Peutz-Jeghers syndrome (PJS) is an autosomal dominant cancer predisposition syndrome characterized by melanotic macules and hamartomatous polyps. Small-bowel surveillance in the pediatric PJS population is not designed to identify small-bowel malignancy, which is thought to arise in adulthood. A 13-year-old boy presented with lead-point intussusception, requiring emergent surgical resection. A mucinous adenocarcinoma was found arising from high-grade dysplasia within a polyp. On the basis of these findings and mucosal pigmentation, he was diagnosed with PJS. DNA sequencing revealed a heterozygous c.921-1G>T STK11 mutation. This case is the earliest onset of small-bowel carcinoma in PJS, an observation relevant to surveillance guidelines.
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PMID:Unusually early presentation of small-bowel adenocarcinoma in a patient with Peutz-Jeghers syndrome. 2342 6

Intussusception is a rare diagnosis in adults. Gastrointestinal involvement is not unusual in systemic lupus erythematosus (SLE).1 A case of intussusception as first presenting symptom of SLE is described. A 50-year-old woman of Chinese origin came to the emergency room with symptoms of high fever, nausea, vomiting and weight loss of 10 kg. Three months before, an episode with abdominal pain due to ileal invagination in the colon occurred. Laboratory analysis showed: thrombocytopaenia, lymphopaenia, positive antinuclear antibody, antidouble-stranded DNA, Coombs tests and low C3 in combination with an active urine sediment and proteinuria. CT and positron emission tomography scan showed lymphadenopathy, but no other abnormalities. Axillar lymph node biopsy showed no abnormalities. The diagnosis new-onset SLE was made. Prednisone treatment was started and soon thereafter tapered, azathioprine and hydroxychloroquine were added. During follow-up, the SLE remained in remission. SLE is a rare cause of ileocolic intussusception and ileocolic intussusception may be the first presenting symptom.
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PMID:Systemic lupus erythematosus (SLE): an unusual cause of ileocolic intussusception. 2919 36