Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We examined, with an enzyme-linked immunoadsorbent assay (ELISA) method, the serum of 55 patients with Colon Adenocarcinoma (CA) for the presence of autoantibodies against tropomyosin (TMS), of IgM and IgG isotypes, before and 1 month after surgery. Twenty-six (26) patients with benign surgical diseases (BSD) (hernia or cholelithiasis) and 40 healthy volunteers were used as controls. Preoperatively, 20/55 (36.3%) of CA patients and 2/26 (7.7%) of BSD patients were positive for anti-TMS antibodies, while postoperatively, the positive samples were 22/55 (40%) and 2/26 (7.7%), respectively. The difference between the group of CA patients and the two control groups was statistically significant (p < 0.001). The presence of anti-TMS antibodies has been associated with better outcome of CA patients: 30 CA patients (30/55, 54.5%) had detectable anti-TMS antibodies either preoperatively or postoperatively and 25 CA patients (25/55, 45%) were completely negative in both occasions. In the first group of patients, four (4) recurrences were detected (4/30, 13.3%) while in the second group nine (9) recurrences were found (9/25, 36%). The difference between the two groups was statistically significant (p < 0.01). Anti-tropomyosin antibodies could be used as biological markers of prognosis in colon cancer patients.
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PMID:Prognostic significance of autoantibodies against tropomyosin in patients with colorectal adenocarcinoma. 1062 84

Cowden's disease (CD) is an autosomal dominant disorder which confers a high susceptibility to diverse benign and malignant tumors. The PTEN (phosphatase and tensin homologue deleted in chromosome ten) gene has been identified as a tumor suppressor gene responsible for cancers of the endometrium, ovary, prostate, and glioblastomas. Recently, germline mutations of this gene were also found in patients with CD, and it is now recognized as a gene responsible for this disease. We identified a germline nonsense mutation at codon 130 in exon 5 of PTEN in a 56-year-old Japanese woman with CD. The patient had adenoid facies and mucocutaneous lesions including multiple facial papules, acral keratoses on neck and shoulders, palmoplantar keratoses, multiple oral papillomas, scrotal tongue, mucosal and cutaneous hemangiomas, and a sclerotic fibroma on the arm. She also had benign and malignant polypoid neoplasms throughout the entire digestive tract, including adenocarcinoma of the colon and submucosal lipomas of the rectum, as well as bilateral breast carcinomas, multinodular goiters, an ovarian cyst with a fibroma-like nodule, hepatic hemangiomas, and abdominal hernia. We searched CD cases with the same genotypic PTEN mutation as the present case and compared their phenotypes. Further studies will disclose a better understanding of the role of mutation in the PTEN gene in the course of tumorigenesis of both benign and malignant tumors developed in patients with CD.
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PMID:Germline mutation of the PTEN gene in a Japanese patient with Cowden's disease. 1129 50

We present the case of a 44-year-old man who presented with nausea, vomiting and acute pain in the right groin. On physical examination an irreducible mass was palpated in the right inguinal region. Ultrasound suggested an inguinal hernia sac with bowel contents. Subsequent right inguinal exploration revealed only unspecified necrotizing tissue, but no hernia sac or bowel contents were identified. Two days later laparotomy was required since the inguinal wound produced faecal discharge. The sigmoid appeared to be necrotic and perforated, and was subsequently resected. Histology revealed a perforated adenocarcinoma without lymph node involvement. Incarcerated inguinal hernias containing an adenocarcinoma of the colon are rare, but should be considered in patients presenting with an irreducible palpable mass in the inguinal region. Moreover, a carcinoma of the sigmoid may invade the right inguinal region. An intestinal perforation to skin-level in this population is even rarer and is associated with high morbidity and mortality rates.
Hernia 2006 Mar
PMID:Carcinoma of the sigmoid presenting as a right inguinal hernia. 1613 89

A 34-year-old woman presented at 19 weeks in her third pregnancy with abdominal pain and hyperemesis. This was her third admission during the pregnancy for similar complaints. A few days after admission an exacerbation in her pain was noted, in particular on eating or lying down, and a firm and mobile epigastric mass could be palpated separate from her uterus. The differential diagnosis was a hernia or a degenerating pedunculated fibroid. Sonography revealed a mass separate from the uterus with an appearance consistent with intussusception. Magnetic resonance imaging confirmed the diagnosis. A limited right hemicolectomy was performed. The final diagnosis was adenocarcinoma of the colon. It is difficult to diagnose intussusception during pregnancy. The presenting symptoms of nausea, vomiting, abdominal pain and constipation are common in pregnancy and the displacement of the bowel by the gravid uterus hampers examination. Intussusception is very rare in adults and generally it is associated with tumors. Preoperative diagnosis is difficult but possible with accurate imaging.
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PMID:Intussusception: a rare cause of abdominal pain in pregnancy. 1695 24