Pediatric cutaneous mastocytosis and c-KIT mutation screening.

Background: Cutaneous mastocytosis (CM) is a heterogeneous disease that commonly presents with skin lesions in childhood. Objective: In this study, we aimed to evaluate the clinical and laboratory test results of our patients with CM to ascertain prognostic factors by using patients' long-term follow-up results and to determine c-KIT (receptor tyrosine kinase) mutation from peripheral blood samples, which might be responsible for the etiopathogenesis of pediatric mastocytosis. Methods: The clinical observation data of 32 children who had been diagnosed with CM were retrospectively researched. Exon 8, 9, 11, 13, and 17 c-KIT gene locations were analyzed from DNA material that was obtained from peripheral blood samples of all the patients by using polymerase chain reaction analysis and automatic DNA sequencing. Results: The tryptase level was higher in patients with familial cases and in cases of patients who had gastrointestinal mediator releasing symptoms (p = 0.017, p = 0.038, respectively). The use of clarithromycin and the use of vitamin D were determined as triggers for mediator release. Hypogammaglobulinemia was found in six patients (18.8%). Indoor tobacco exposure was seen to be higher in patients not in remission than in patients in remission (59.1% and 20%, respectively) (p = 0.040). Allergic diseases were observed in 80% of patients in complete remission and 22.7% of patients not in remission (p = 0.002). Concomitant allergic diseases were found to be good prognosis markers among pediatric patients with CM. No c-KIT mutation was discovered in any of the patients. Conclusion: In this study, tobacco exposure would seem to be a barrier for remission, and concomitant allergic diseases were seen to be a good prognosis marker. Evaluation of peripheral c-KIT mutation had no diagnostic contribution among pediatric patients with CM in contrast to adults.

The Effects of Reduction Mammaplasty on Serum Leptin Levels and Insulin Resistance.

Background. The reduction mammaplasty has been a well-executed and known procedure in which considerable amount of fatty tissue is removed from the body. The authors aimed to show the effects of the reduction mammaplasty on serum leptin levels and insulin resistance. Methods. 42 obese female patients who had gigantomastia were operated on. We recorded patients' demographic and preoperative data, including age, weight, height, and body mass index. Fasting serum leptin, glucose, and insulin levels were noted. Homeostasis model assessment scores were calculated. At the postoperative 8th week, patients were reevaluated in terms of above parameters assessing the presence of any difference. Results. Serum leptin levels were decreased postoperatively and the decrease was statistically significant. We were able to show a decrease in homeostasis model assessment score, which indicated an increase in insulin sensitivity, and this change was statistically significant. A significant correlation between body mass index and leptin change was found postoperatively. Conclusion. Reduction mammaplasty is not solely an aesthetic procedure but it decreases serum leptin levels and increases insulin sensitivity, which may help obese women to reduce their cardiovascular risk.

Molecular karyotyping of an isolated partial trisomy 11q patient with additional findings.

Isolated partial duplication of the long arm of chromosome 11 is very rare. The main features are dysmorphic facial features, pre/postnatal growth retardation, speech delay, mental retardation, hypotonia, microcephaly, and cardiac, vertebral, limb and genital anomalies. In this case, we report a patient with partial trisomy of 11q13.5→qter due to a de novo rearrangement consisting of the whole X chromosome and part of chromosome 11; 46,X,der(X)(Xqter→Xp22.33::11q13.5→11qter). Additional findings were a separated clavicle, lacrimal duct stenosis and prenatally detected renal hypoplasia. SNP array results revealed a duplication between 11q13.5 and 11qter, measuring 58 Mb, from nucleotide 76,601,607 to 134,926,021. As a result, molecular karyotyping could be performed in such cases in order to establish a definite phenotype-genotype correlation using conventional or molecular cytogenetics techniques.