In Brief BACKGROUND: Partial deletion of the long arm of the chromosome 13 is a rare chromosomal aberration and may present with microcephaly, colobomata, microphthalmia, distal limb and digital anomalies, cardiac defects, brain and urogenital malformations, anal atresia and growth restriction. CASE: We report such a case in 25th week of gestation referred for sonographic examination which revealed growth restriction, microcephaly, Dandy-Walker malformation, right microphthalmia, micrognathia, marked nuchal edema, four fingers–oligodactyly in feet and in hands with thumb aplasia and ambiguous genitalia. Chromosome analysis identified chromosome 13q deletion [46 XY del (13) (13q31.2/q32.1 → qter)]. Postmortem examination confirmed prenatal findings and showed aniridia, low-set ears, cryptorchidism, and anal atresia. CONCLUSION: Detection of Dandy-Walker malformation, microphthalmia, oligodactyly with thumb aplasia and growth restriction during prenatal ultrasonography should be a reminder of deletion of chromosome 13q and warrant cytogenetic analysis. Fetus with findings of Dandy-Walker malformation, asymmetric microphtalmia, oligodactyly with thumb aplasia and intrauterine growth restriction during prenatal sonographic evaluation should be a reminder of the 13q-syndrome and warrant cytogenetic analysis.
Polycystic ovary syndrome (PCOS) is thought to represent an early manifestation of metabolic syndrome, which is associated with cardiovascular disease. Signal peptide-CUB (complement C1r/C1s, Uegf, and Bmp1)-epidermal growth factor domain-containing protein 1 (SCUBE1) is a platelet activation marker that plays important roles in vascular biology and has been closely linked to cardiovascular events. In the present study, we investigated SCUBE1 levels in lean glucose-tolerant women with PCOS and assessed the possible association between SCUBE1 levels and hormonal and metabolic features of women with PCOS.The study population consisted of 90 lean [body mass index (BMI) <25 kg/m2] women who were diagnosed as having PCOS using the Rotterdam criteria and 100 age- and BMI-matched healthy controls with no clinical or biochemical feature of hyperandrogenism. Glucose tolerance was evaluated in all subjects before recruitment using the 2 h 75 g oral glucose tolerance test, and only those exhibiting normal glucose tolerance were enrolled. Hormonal and metabolic parameters, and serum SCUBE1 levels were evaluated.Circulating SCUBE1 levels were significantly higher in women with PCOS than in controls (5.9±3.9 vs. 4.2±1.4 ng/mL, p=0.022). No association between SCUBE1 level and clinical or biochemical parameters was found in the control or PCOS group.SCUBE1 levels are elevated in women with PCOS compared with those in healthy controls; thus, this protein may be an early biomarker of cardiovascular disease later in life.
Sir: We read with great interest the recent article entitled “A Prefabricated, Tissue-Engineered Integra Free Flap” (Plast. Reconstr. Surg. 120: 1322, 2007). The authors have developed a method of prefabrication of a skin substitute matrix, Integra (Integra LifeSciences, Plainsboro, N.J.), in severely burned patients with limited normal skin for prefabrication of a flap. The authors have successfully transferred the prefabricated Integra flap as a free flap for the coverage of a left elbow defect following contracture release. Soft, pliable coverage of the defect was maintained. We would like to congratulate the authors for this new method of tissue prefabrication. The authors have mentioned that prefabricated flaps were first described by Yao in 1981. However, the concept of transforming a skin graft into a vascularized pedicled flap, both experimentally and clinically, was first introduced and published by Erol in 1976.1 This was emphasized by Spira in his discussion of the article of Yao, to which the authors have referred.2 Working independently from Yao’s work, Erol and Spira in their experimental studies used omentum as a vascular carrier in tissue prefabrication.3,4 Different types of secondary composite flaps including skin grafts, skin flaps, muscles, and bones were created. The study was awarded first prize in the 1978 Essay Contest of the Educational Foundation of the American Society of Plastic and Reconstructive Surgeons and subsequently published in Plastic and Reconstructive Surgery in 1978.4 Erol has contributed a great deal to the field of flap prefabrication, and we believe that he has to be credited with the flap prefabrication. We presume that the authors have inadvertently overlooked Erol’s experimental and clinical studies in this field. Again, we congratulate the authors for their method of prefabrication of the skin substitute matrix Integra, which might be an alternative in cases where adequate flap donor sites are not available. Galip Agaoglu, M.D. Istanbul Bilim University O. Onur Erol, M.D. ONEP Plastic Surgery Science Institute Istanbul, Turkey
Facial aging is both a physiologic and anatomic process characterized by changes in the skin and supporting tissues. The aging process produces an outer envelope that gradually expands while its contents gradually involute and the underlying structure weakens. This process results in an excess of skin that tends to create folds, grooves, and deepening furrows. Contour augmentation and filling depressions with autologous tissue or heterogeneous materials are widely used in face rejuvenation as an adjunctive procedure. There is unanimous agreement on the advantages of autogenous tissue grafts over alloplastic materials and heterogeneous transplants. It is also well known that the revascularization of a small graft (fat, dermis, and/or composite graft) is better than a large graft. For this reason, fat injections consisting of small particles have recently become popular. According to different authors, a graft take may vary from 30 to 50 percent. Nevertheless, it has been thoroughly documented that a graft consisting of dermis or fascia is superior to a fat graft in both the graft take rate and quality of the tissue. Strips of dermal graft have been used successfully for several years to fill lip contour and nasolabial folds. However, the main disadvantage of this technique is that utilization is restricted only to certain areas where there is a need for a small incision. To overcome this obstacle, the author developed a simple technique to obtain an injectable mass from a mixture of dermis, muscle strips, fat tissue, and fascia to use in body contouring (especially in the facial region) in large areas. The author describes the use of the technique in 450 patients. Follow-up in these patients from 6 months to 10 years showed that the application of the "tissue cocktail" procedure in select patients improved the author's results and created a marked increase in the number of satisfied patients with no complaints. The take and durability of this kind of graft were superior to the author's results using fat grafts. The tissue cocktail graft remained stable for several years, as effectively seen in the chin region. The sole complication from the procedure was some bruising, which was resolved in several days. No single infection or inclusion cyst was observed in this series.
Objective: To investigate the prevelance of CIN in postmenopausal women in our region. Material and Methods: Between 1997 and 2000 years, 12783 women who applied Menopause Clinic for taking hormone replacement therapy with or without complaints were retrospectively evaluated. Results: Of the 349 cases with abnormal smear findings, 265 were CIN I (%75.8 ), 40 were CIN II (%11.4 ), 6 were CIN III (%2), 2 were carsinoma insituf %0.6 )and 36 were koilocytosis (%10.2 ). General prevelance of abnormal cervical findings in this age group was determined aproximately % 3. Conclusios: Although in women of postmenopausal age early stage servical intraepithelial lesions is seen not rare, it is clearly that they must be evaluated for transformation zone even if they are asymptomatic.
Objective: To compare preoperative grading in endometrioid endometrial cancer with the final pathologic assessment of the hysterectomy specimen. The second objective of the study was to determine a high risk group who will be upgraded in the postoperative evaluation. Material and Methods: A total of 335 patients with endometrioid endometrial cancer were retrospectively reviewed between June 2000 and January 2011. All pathology results were pre- and postoperatively reviewed at two institutions, and all patients underwent surgical therapy. Sensitivity, specificity, positive and negative predictive values and accuracy rates were calculated for all grades in the preoperative assessment. Results: The mean age of the patients was 56.2±9.6 and the vast majority of the patients were postmenopausal (n=239, 71.3%). FIGO grade was determined to be greater in 75 patients in the final hysterectomy specimen. Fifty-five (32.9%) of the patients with preoperative grade 1 were found to be grade 2 and 3.6% of them were upgraded to grade 3. Fourteen of the patients with grade 2 (11.4%) were found to be grade 3. The accuracy rates of the preoperative grade assessment with endometrial sampling were 75.5%, 66.2% and 88.3% for grades 1, 2 and 3, respectively. There were no statistically significant differences in the preoperative demographic characteristics between patients with or without upgraded tumors. Conclusion: A high percentage of preoperatively diagnosed grade 1 tumors were upgraded in the postoperative evaluation. The patients who would have been upgraded after hysterectomy could not have been predicted preoperatively using the characteristic features. (J Turkish-German Gynecol Assoc 2012; 13: 106-10)