Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants

Q1Q1Artículo original445-453Ethnic-specific differences in minor allele frequency impact variant categorization for genetic screening of nonsyndromic hearing loss (NSHL) and other genetic disorders. We sought to evaluate all previously reported pathogenic NSHL variants in the context of a large number of controls from ethnically distinct populations sequenced with orthogonal massively parallel sequencing methods. We used HGMD, ClinVar, and dbSNP to generate a comprehensive list of reported pathogenic NSHL variants and re-evaluated these variants in the context of 8,595 individuals from 12 populations and 6 ethnically distinct major human evolutionary phylogenetic groups from three sources (Exome Variant Server, 1000 Genomes project, and a control set of individuals created for this study, the OtoDB). Of the 2,197 reported pathogenic deafness variants, 325 (14.8%) were present in at least one of the 8,595 controls, indicating a minor allele frequency (MAF) >0.00006. MAFs ranged as high as 0.72, a level incompatible with pathogenicity for a fully penetrant disease like NSHL. Based on these data, we established MAF thresholds of 0.005 for autosomal-recessive variants (excluding specific variants in GJB2) and 0.0005 for autosomal-dominant variants. Using these thresholds, we recategorized 93 (4.2%) of reported pathogenic variants as benign. Our data show that evaluation of reported pathogenic deafness variants using variant MAFs from multiple distinct ethnicities and sequenced by orthogonal methods provides a powerful filter for determining pathogenicity. The proposed MAF thresholds will facilitate clinical interpretation of variants identified in genetic testing for NSHL. All data are publicly available to facilitate interpretation of genetic variants causing deafness

Global Variation of Nutritional Status in Children Undergoing Chronic Peritoneal Dialysis : A Longitudinal Study of the International Pediatric Peritoneal Dialysis Network

While children approaching end-stage kidney disease (ESKD) are considered at risk of uremic anorexia and underweight they are also exposed to the global obesity epidemic. We sought to investigate the variation of nutritional status in children undergoing chronic peritoneal dialysis (CPD) around the globe. The distribution and course of body mass index (BMI) standard deviation score over time was examined prospectively in 1001 children and adolescents from 35 countries starting CPD who were followed in the International Pediatric PD Network (IPPN) Registry. The overall prevalence of underweight, and overweight/obesity at start of CPD was 8.9% and 19.7%, respectively. Underweight was most prevalent in South and Southeast Asia (20%), Central Europe (16.7%) and Turkey (15.2%), whereas overweight and obesity were most common in the Middle East (40%) and the US (33%). BMI SDS at PD initiation was associated positively with current eGFR and gastrostomy feeding prior to PD start. Over the course of PD BMI SDS tended to increase on CPD in underweight and normal weight children, whereas it decreased in initially overweight patients. In infancy, mortality risk was amplified by obesity, whereas in older children mortality was markedly increased in association with underweight. Both underweight and overweight are prevalent in pediatric ESKD, with the prevalence varying across the globe. Late dialysis start is associated with underweight, while enteral feeding can lead to obesity. Nutritional abnormalities tend to attenuate with time on dialysis. Mortality risk appears increased with obesity in infants and with underweight in older children.Peer reviewe

Laparoscopic Diagnosis and Treatment of Splenogonadal Fusion Associated with Intra-Abdominal Cryptorchidism

Splenogonadal fusion is a rare congenital anomaly in which there is a fusion between spleen and gonad. According to the literature, 37% of them had unnecessary orchiectomy. We present a patient with splenogonadal fusion in undescended testis, who was preserved from unnecessary orchiectomy. [Cukurova Med J 2013; 38(1.000): 135-137

Laparoscopic diagnosis and treatment of splenogonadal fusion associated with intra-abdominal cryptorchidism: A case report

Splenogonadal fusion is a rare congenital anomaly in which there is fusion between spleen and gonad. According to the literature 37% of them had unnecessary orchiectomy. We present a patient with splenogonadal fusion in undescended testis, who was preserved from unnecessary orchiectomy. [Cukurova Med J 2013; 38(4.000): 787-790

Vibrant sound bridge application to middle ear windows versus conventional hearing aids: a comparative study based on international outcome inventory for hearing aids

In this study, we aimed to compare the outcomes of satisfaction of the patients who used hearing aids preceding the vibrant sound bridge (VSB) application on middle ear windows (14 oval window and 5 round window). Nineteen adult patients with conductive or mixed hearing loss were included in the study. All patients used behind the ear hearing aids on the site which was selected for VSB application. The patients used hearing aids for at least 3 months before the VSB operation. The floating mass transducer (FMT) was placed on one of the middle ear windows (oval or round) in VSB operation. The patients were evaluated with International Outcome Inventory for Hearing Aids (IOI-HA) preoperatively after at least 3 months trial of conventional hearing aid and postoperatively after 3 months use of VSB. No perioperative problem was encountered. The total score of IOI-HA was significantly higher with VSB compared with conventional hearing aids (p 0.05). The IOI-HA scores were significantly higher with the middle ear implant than the conventional hearing aid regarding benefit and residual participation restrictions (p < 0.05). Although the scores for quality of life assessment was similar between VSB and hearing aid use, there was a superiority of VSB in terms of benefit and residual participation restrictions as well as overall IOI-HA scores as the FMT was placed on one of the middle ear windows

Laparoscopic excision of a large bladder diverticulum

WOS: 000239906201598

Laparoscopic partial nephrectomy in the treatment of kidney tumors

WOS: 000239906201650