Absence of insulin receptor gene mutations in three insulin-resistant women with the polycystic ovary syndrome

Women with polycystic ovary syndrome (PCOS) are markedly insulin-resistant, but the molecular mechanisms of these changes and their relationship to the hyperandrogenic state remain to be clarified. Mutations have recently been identified in the insulin receptor gene of patients with extreme forms of insulin resistance associated with hyperandrogenism (eg, type A insulin resistance), and these mutations account for the insulin resistance in such patients. We performed this study to determine whether mutations in the coding portion of the insulin receptor gene were responsible for insulin resistance in PCOS. Insulin binding studies using cultured skin fibroblasts of three obese (body mass index > 27 kg/m²) women with PCOS (ie, mild hyperandrogenemia and chronic anovulation of unknown etiology) and documented insulin resistance showed no apprarent abnormalities in either the number or affinity of insulin binding sites. Direct sequencing of all 22 exons of the insulin receptor gene from two of the women with PCOS did not reveal any mutations. Furthermore, both alleles of the gene were expressed at equal levels. In a third insulin-resistant PCOS woman, there was no evidence for a mutation in the coding portion of the insulin receptor gene as determined by denaturing gradient gel electrophoresis (DGGE). We conclude that the insulin resistance in these PCOS women was caused by a defect extrinsic to the insulin receptor.     

Dynamic contrast-enhanced ultrasound with carbon dioxide microbubbles as adjunct to arteriography of liver tumors

Purpose The goal of the study is to evaluate utility of contrast enhanced ultrasound (US) with carbon dioxide microbubbles in evaluation of hepatic lesions.Methods Twenty eight patients with single or multiple t hepatic lesions (11 hepatocellular carcinoma, 8 hemangiomas, 5 metastases, 1 adenoma, 1 focal nodular hyperplasia, 2 regenerative nodules) were examined. US exam was performed during intraarterial injection of 10 ml of CO₂ through the same catheter employed for liver arteriography. The US exam was videotaped in its salient phases. Characteristics of enhancement were evaluated and correlated with histological findings or patient follow up.Results Sonographic angiography clearly demonstrated vascularization of the lesions. Hepatocellular carcinoma, hemangioma, metastases, focal nodular hyperplasia, and regenerative nodules had very characteristic patterns. The injection of CO₂ allowed detection of small additional nodules.Conclusion Sonographic angiography can improve characterization and staging of hepatic tumors. Low cost and the simplicity of the technique should encourage further experimentation.     

Benefits of combined balloon pumping and percutaneous cardiopulmonary bypass.

Sixteen patients (2 women, 14 men) aged 29 to 72 years with continued cardiogenic shock during intraaortic balloon pumping (IABP) had additional treatment with percutaneous cardiopulmonary bypass (PBY). Cause of cardiogenic shock was myocardial infarction in 7 (3 survived), failed percutaneous transluminal coronary angioplasty requiring emergency coronary artery bypass grafting in 5, postoperative aortic valve replacement in 1, postoperative emergency coronary artery bypass grafting in 1, after cardiac transplantation in 1, and bridging to transplantation in 1. Mean blood pressure with PBY and IABP combined was 75 mm Hg versus 60 mm Hg with IABP off. Percutaneous cardiopulmonary bypass flows ranged from 0.8 to 2.1 L/min with a mean flow of 1.3 L/min. Time on IABP ranged from 24 hours to 1 week. Time on IABP to PBY ranged from 1 to 20 hours, and time on PBY ranged from 65 minutes to 20 hours. Ten of 16 (63%) were successfully weaned, and 3 died after weaning. Seven of 16 (44%) survive. Combined IABP with PBY appears to be a better therapy than either one individually. Staging the therapy as the balloon first in and last out appears to be a good methodology.     

The fate of buried vaginal epithelium.

A new technique in the treatment of stress urinary incontinence utilizes a sling fashioned from a rectangular island of buried vaginal epithelium. We developed a model to study the natural history of vaginal wall covered by an epithelial flap in 12 rabbits sacrificed at intervals to 26 weeks. Histopathologic examination demonstrated an immediate acute inflammatory reaction. This early response was followed by formation of an epithelial lining of the potential space overlying the buried vaginal tissue. Acute inflammatory cells continued to enter this lumen until week 20, when granulomas were first detected. Histopathologic examination at twenty-six weeks showed stratified squamous epithelium lining the lumen. No deleterious inflammatory sequelae were detected, and no dysplastic or malignant changes were identified. These results suggest that buried vaginal epithelium is a safe (short term) tissue alternative for sling creation.     

Laparoscopic trans-cystic-duct common-bile-duct exploration

One thousand seventy-one consecutive laparoscopic cholecystectomies were performed. Routine cholangiography was employed with a 99% success rate. One hundred thirty patients were found to have common duct stones (CBDS). In 48 (37%) patients they were unsuspected. One hundred eleven patients underwent attempted trans-cystic-duct extraction techniques (TCD-CBDE). One hundred three (93%) were successful. The following techniques were employed: 101—biliary endoscopy, 23—ampullary balloon dilation, 2—fluoroscopic basket retrieval.The average operative time was 136 min. The average postsurgical stay was 3.7 days. There were 19 (17%) complications—6 (5%) major. There were 4 retained stones (2 intentional) and 1 death. Patients over 65 years of age had more complications and patients with unsuspected CBDS under 65 years of age had the fewest.TCD-CBDE is a safe, effective way to extract common duct calculi. Endoscopy and basket stone retrieval was the primary technique employed.Presented at the annual meeting of the Society of American Gastrointestinal Endoscopic Surgeons (SAGES), Nashville, Tennessee, USA, 18–19 April 1994     

Mono- and bi-allelic expression of insulin-like growth factor II gene in human muscle tumors

Insulin-like growth factor II (IGF-II) is a mitogen for manycell types and an important modulator of muscle growth and differentiation.IGF-II gene is prevalently expressed during prenatal developmentand its gene activity is regulated by genomic imprinting, inthat the allele inherited from the father is active and theallele inherited from the mother is inactive in most normaltissues. IGF-II expression is activated in several types ofhuman neoplasms and an alteration of IGF-II imprinting has beendescribed in Beckwith–Wiedemann syndrome and Wilms' tumour.Here we show that monoallelic expression of IGF-II gene is conservedin normal adult muscle tissue whereas two or more copies ofactive IGF-II alleles, arising by either relaxation of imprintingor duplication of the active allele, are found in 9 out of 11(82%) rhabdomyo-sarcomas retaining heterozygosity at 11p15,regardless of the histological subtype. Since IGF-II has beenindicated as an autocrine growth factor for rhabdomyosarcomacells, these findings strongly suggest that acquisition of adouble dosage of active IGF-II gene is an important step forthe initiation or progression of rhabdomyosarcoma tumorigenesis.Among different types of muscle tumors, relaxation of imprintingseems to arise prevalently in rhabdomyosarcomas, since we havedetected only one case of partial reactivation of the maternalIGF-II allele out of 7 lelomyosarcomas tested.     

Does too much urology damage your eyesight? Study of macular function.

A study comparing the macular function of both eyes of 130 urological surgeons was carried out to investigate whether the increased light exposure to the endoscoping eye caused any deterioration of macular function. The non-endoscoping eye was used as a control. A sophisticated computer test of colour contrast sensitivity was used. The computer assesses the degree of brightness at which the subject is just able to detect a coloured grating, and for each eye this is expressed as a threshold for the red/green axis and the blue/yellow (tritan) axis. The subjects also completed a questionnaire about their working patterns and their general and ophthalmic history and had a brief examination of the fundus. The results do not suggest that urologists are suffering any significant macular damage as a result of their work with endoscopes.     

Family system test (FAST): Are parents' and children's family constructs either different or similar,or both?

Perceptions of family cohesion and hierarchy structures were assessed by theFamily System Test (FAST), a clinically-derived figure placement technique. Parents (N=140) and their preadolescent offspring (N=70) completed typical and conflict representations in individual as well as group settings. Typical representations were characterized by balanced family structures (i.e. cohesive and moderately hierarchical) and those displaying conflict situations showed predominantly unbalanced patterns. FAST portrayals were related to respondent (mother vs. father vs. child). Fathers represented typical family relations as balanced more often than mothers. Regarding conflict representations, children were more likely than fathers to portray the family as unbalanced. However, analyses of representations of the same family (i.e. intra-family comparisons) indicated that all respondents differed in their perceptions and, that fathers' typical portrayals showed most often the same structure as those done by the family members as a group.