Early Diagnosis of Distal Peripheral Polyneuropathy Due to Glucose Metabolism Disorders via Intraepidermal Nerve Fiber Analysis

OBJECTIVE: Polyneuropathy is the most frequent complication of diabetes mellitus (DM), which is a common disorder worldwide. Early diagnosis of this complication is critical for treatment planning. Recently, intra-epidermal nerve fiber (IENF) analysis has been used for the early diagnosis of diabetic neuropathy and was reported to be superior to both conventional fascicular nerve biopsy and other diagnostic tests. The present study aimed to determine the effect of early glucose metabolism disorders on the peripheral nerves using IENF analysis. METHODS: : This prospective study compared IENF nerve fiber density in 10 patients with early-stage DM and 12 patients with impaired glucose tolerance (IGT) to that of healthy controls in order to investigate fiber loss in the asymptomatic stage. RESULTS: Mean age of the DM and IGT groups was 53.4 ± 10.9 years and 50.8 ± 10.6 years, respectively. Neither the IGT nor DM patients had paresthesia. Neurological examination results of the patients were all in the normal range. Mean fiber density was 6.4 ± 2.7 mm-1 in the DM group, 7.5 ± 3.2 mm-1 in the IGT group, and 13.7 ± 2.7 mm-1 in the control group (p< 0.0001). Paired analysis of the groups showed a significant difference between the 2 patient groups and the control group. There was a statistically significant difference in mean nerve fiber density between the DM and control groups (p< 0.0001, Mann-Whitney U test), and between the IGT and control groups (p< 0.0001, Mann-Whitney U test); however, there wasn’t a significant difference between the DM and IGT groups (p= 0.5, Mann-Whitney U test). CONCLUSION: The results show that IENF density in the IGT and DM groups decreased in the asymptomatic stage of DM. This means that polyneuropathy can begin in the prediabetic period in patients with glucose metabolism disorders. This critical information highlighs the importance of the early diagnosis and treatment of glucose metabolism disorders in preventing neurological complication

The status of the neurology education from resident’s perspective: a national survey in turkey

Objective: In Turkey, a national program is governed by National Board of Medical Specialties (BMS), Commision of Syllabus Creation and Standardization to improve and standardize residency training. In the present study, we aimed to assess neurology residency training programs and working conditions in Turkey based on a national survey among residents. Materials and Methods: All neurology residents were invited to complete a 39-question survey via e-mail, which contained a link to the online questionnaire form. Data on the residents' working conditions, education and research activities were collected. Results: Out of 450 neurology residents, 136 (30.2%) completed the survey. Hundred nineteen (88%) of these residents reported working >8 h per day and 116 (85%) reported they were on night duty >3 d per month. Overall, 82% of the residents were not satisfied with the educational program in their department. Half of the residents reported that their institution did not have a structured education program. Eventhough, 70% reported that they contributed to clinical or basic research conducted at their clinics only 35% of them noted that they received sufficient academic supervision. Finally, 126 (94%) of the residents reported that the pay-for-performance healthcare system negatively affected their training. Conclusion: The main reasons of dissatisfaction with neurology training in Turkey seem to be the insufficiency in educational programing, nonstandardized working hours and the pay-for-performance healthcare system. The present findings can help standardize and improve neurology training program founded by National Board of Medical Specialties (BMS)

Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database

The last decade has proven that amyotrophic lateral sclerosis (ALS) is clinically and genetically heterogeneous, and that the genetic component in sporadic cases might be stronger than expected. This study investigates 1,200 patients to revisit ALS in the ethnically heterogeneous yet inbred Turkish population. Familial ALS (fALS) accounts for 20% of our cases. The rates of consanguinity are 30% in fALS and 23% in sporadic ALS (sALS). Major ALS genes explained the disease cause in only 35% of fALS, as compared with similar to 70% in Europe and North America. Whole exome sequencing resulted in a discovery rate of 42% (53/127). Whole genome analyses in 623 sALS cases and 142 population controls, sequenced within Project MinE, revealed well-established fALS gene variants, solidifying the concept of incomplete penetrance in ALS. Genome-wide association studies (GWAS) with whole genome sequencing data did not indicate a new risk locus. Coupling GWAS with a coexpression network of disease-associated candidates, points to a significant enrichment for cell cycle- and division-related genes. Within this network, literature text-mining highlightsDECR1, ATL1, HDAC2, GEMIN4, andHNRNPA3as important genes. Finally, information on ALS-related gene variants in the Turkish cohort sequenced within Project MinE was compiled in the GeNDAL variant browser (www.gendal.org).Bogazici University; Suna and Inan Kirac Foundatio