Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:Q86TM3 (cage)
 29,987 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant disorder characterized by an excess of extracolonic malignancies including those of the urinary tract. We report a case of metachronous bilateral ureteral cancer associated with HNPCC. A 51-year-old man was referred to Nara National Hospital for further examination of left hydronephrosis on excretory urography performed on the periodical follow-up for colon cancer. Computed tomography showed a mass in the left lower ureter and urine cytology was demonstrated class V. The operation was performed under the diagnosis of left ureteral cancer. The histopathological diagnosis was transitional cell carcinoma, grade 2, pT1. After 4 months of the operation, he presented with gross hematuria. Retrograde pyelography demonstrated tumors in the right side (ureter and renal pelvis) and the histopathological diagnosis of the biopsy specimens revealed transitional cell carcinoma, grade 2. We performed 4 times of BCG instillation followed by laser ablation of the tumor. The reported case was compatible for Japanese clinical criteria, group B for HNPCC.
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PMID:[Metachronous bilateral ureteral cancer in patient with hereditaly nonpolyposis colorectal cancer]. 1497 44

Campomelic dysplasia (CD) is a rare form of skeletal dysplasia (incidence 1:200,000 births) which is associated with characteristic phenotypes including bowing of the limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, macrocephaly, flattened supraorbital ridges and nasal bridge, cleft palate, and micrognathia. In addition to the skeletal abnormalities, hydrocephalus, hydronephrosis, and congenital heart disease have been reported. We describe a preterm neonate who presented with respiratory failure and clinical features of CD. Our case had only 10 pairs of ribs, and to the best of our knowledge this is the first case report of CD with 10 pairs of ribs.
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PMID:Campomelic dysplasia with 10 pairs of ribs in a preterm neonate: A case report. 3066 10