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Biomedical subjects

S Doran

Publications and source records attributed to S Doran.

25 records · Page 2Linked to original sources

17q inversion involving the neurofibromatosis type one locus in a family with neurofibromatosis type one.

We report a family with a paracentric inversion of the long arm of chromosome 17 [inv(17)(q11.2q25.1)] and neurofibromatosis type one (NF1). The family was ascertained because of NF1 and multiple miscarriages. Fluorescence in situ hybridization using cosmid probes from opposite ends of the NF1 gene confirmed that the inversion disrupts the gene. Using field inversion gel electrophoresis we have found that the inversion separates cDNA probes FB5D and AE25, which are normally adjacent to one another in the NF1 gene. This is the third published report of a gross chromosomal rearrangement responsible for NF1. The features in this family are typical for NF1, and are not unusually severe.

Adolescent↗

Endogenous nitric oxide in expired air: effects of acute exercise in humans.

Nitric oxide (NO) is present in the exhaled breath of humans and experimental animals, but its physiologic role and cellular source(s) remain to be determined. Possible sites of origin are pulmonary endothelial cells and/or resident macrophages. Here we have tested the hypothesis that changes in cardiovascular status can alter the apparent pulmonary excretion of NO. Exercise on a stationary bicycle produced rapid and reversible increases in pulmonary NO excretion rate, and changes in NO excretion rate during exercise were well correlated with observed changes in heart rate. These results suggest that changes in expired NO during exercise are related to corresponding cardiovascular responses.

Adult↗

Placenta percreta invading the urinary bladder.

The case of a woman with a placenta percreta invading the urinary bladder treated by hysterectomy and partial bladder resection is presented. It is emphasized that if physicians in an emergency clinic are aware of this rare condition, preoperative diagnosis can be made and surgical intervention may be accomplished under ideal conditions.

Adult↗

Therapy of giant intracranial aneurysms in the elderly.

A series of 13 elderly patients (eight female, five male) with giant intracranial aneurysms is presented. The mean age was 67.8 years, with a range of 57-81 years. The paper presents the significant medical problems associated with operating on elderly individuals. Surgical intervention was attempted in all cases. Following surgical treatment, eight patients (62%) are alive and functional. Three patients (23%) are alive but partially disabled. Two patients (15%) died during the perioperative period. This compares favorably with other series which include younger patients indicating surgery for giant intracranial aneurysms can be carried out in elderly patients with an acceptable morbidity and mortality.

Aged↗

Laparoscopy in the management of impalpable testicle.

PURPOSE: In paediatric urology, one of the main applications of laparoscopy is the evaluation and treatment of impalpable testis. Herein we present our initial experience with laparoscopy in patients with impalpable testis. MATERIAL AND METHODS: Laparoscopy was performed under general anaesthesia on 13 patients. If the internal spermatic vessels and vas deferens made their way into the internal inguinal ring, the inguinal canal was dissected. Laparoscopic orchiopexy or orchiectomy was performed in cases with intra-abdominal testis. If the internal spermatic vessels found terminated intraperitoneally with a blind-end, the case was considered as a vanishing testis. RESULTS: Thirteen boys, aged from 18 months to 25 years (median 9.8 years) were identified with 21 impalpable testes. 14 of the 21 impalpable testes, the vas and the vessels were through the internal ring, and the inguinal region needed dissection. Orchiopexy was performed on 12 testes and orchiectomy was performed on two atrophic testes. Four of 21 testes were intra-abdominally localized. Laparoscopic orchiopexy was performed in two testes and laparoscopic orchiectomy was performed in two testes. Two boys were diagnosed as vanishing testes; the absence was unilateral on the left side in one case and bilateral in the other. CONCLUSION: Diagnostic laparoscopy is a very helpful, minimally invasive technique in the diagnosis of impalpable testes especially when ultrasonography and/or computed tomography are not informative enough. In addition, orchiectomy and orchiopexy can be done as laparoscopically in the patients with intra-abdominal testes. Therefore, the laparoscopy has an important role in the diagnosis and treatment of impalpable testes.

Adolescent↗