PubMed · 4255800
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R B Zachary. 1971. Intestinal obstruction... https://pubmed.ncbi.nlm.nih.gov/4255800/
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BACKGROUND: Ureteral lesions can be difficult to diagnose. The value of ureteral biopsy in addition to ureteral washings has not been defined clearly. METHODS: All ureteral washings and biopsies with follow-up that were performed at a single institution were reviewed. RESULTS: In total, 39 patients underwent ureteral washing, ureteral biopsy, or both and had follow-up: Eighteen patients had urothelial tumors at follow-up (14 high-grade carcinomas, 3 low-grade carcinomas, and 1 papillary urothelial neoplasm of low malignant potential). The sensitivity was 79% for washings and 71% for biopsies (P = 1.0), for a combined sensitivity of 100%. Biopsies often were scant, and cell blocks from biopsies and washings often were of value. CONCLUSIONS: Ureteral washings and biopsies had similar sensitivity and appeared to be complementary. Cell blocks often are useful for both specimen types.
Disaccharide intolerance I or congenital sucrase-isomaltase deficiency (CSID) is a disorder leading to maldigestion of disaccharides, which is autosomal recessively inherited. Here we analyzed the sucrase-isomaltase (SI) gene from 11 patients of Hungarian origin with congenital sucrase-isomaltase deficiency. Variants in the SI gene had previously been described in CSID patients, which cause amino acid exchanges that affect the transport, the processing, or the function of the SI protein. None of our patients had known mutations for CSID. Our analyses revealed 43 SI variants in total, 15 within exons and one at a splice site. Eight of the exonic mutations lead to amino acid exchanges, causing hypomorph or null alleles. One new variation affects a splice site, which is also predicted to result in a null allele. All potential pathological alterations were present on one allele only. In six out of the 11 patients the phenotype of CSID could be explained by compound heterozygosity.
Central diabetes insipidus (CDI) is a rare disorder that may be caused by a variety of diseases. In pediatric and adolescent patients the most common causes for CDI are Langerhans cell histiocytosis (LCH) and germinoma. To avoid a potentially hazardous biopsy of the hypothalamic pituitary region it is recommended to evaluate patients with CDI carefully to identify potential extracranial lesions. Since LCH is the most common systemic disease that may cause CDI, special focus is paid to the identification of LCH lesions. We report on a 9(1/2) year old girl who presented with central diabetes insipidus and a thickening of the pituitary stalk on magnetic resonance imaging. Diagnostic workup revealed a history of recurrent ear infections and a compressed 6th thoracic vertebral body on radiographs. Based on these findings LCH was anticipated. Upon growth of the pituitary stalk lesion the patient was treated with LCH standard chemotherapy. After an initial shrinkage of the lesion, a further growth of the pituitary stalk lesion was observed and the tumor was resected. Histopathology revealed germinoma. This case underscores the importance of a istopathologically proven diagnosis in patients with HPR tumors before the initiation of a specific therapy, even if the clinical findings are highly suggestive.