Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients

Paired box 1 (PAX1) deficiency has been reported in a small number of patients diagnosed with otofaciocervical syndrome type 2 (OFCS2). We described six new patients who demonstrated variable clinical penetrance. Reduced transcriptional activity of pathogenic variants confirmed partial or complete PAX1 deficiency. Thymic aplasia and hypoplasia were associated with impaired T cell immunity. Corrective treatment was required in 4/6 patients. Hematopoietic stem cell transplantation resulted in poor immune reconstitution with absent naïve T cells, contrasting with the superior recovery of T cell immunity after thymus transplantation. Normal ex vivo differentiation of PAX1-deficient CD34+ cells into mature T cells demonstrated the absence of a hematopoietic cell-intrinsic defect. New overlapping features with DiGeorge syndrome included primary hypoparathyroidism (n = 5) and congenital heart defects (n = 2), in line with PAX1 expression during early embryogenesis. Our results highlight new features of PAX1 deficiency, which are relevant to improving early diagnosis and identifying patients requiring corrective treatment

Analysis of traffic accidents with fuzzy and crisp data mining techniques to identify factors affecting injury severity

Injury severity in motor vehicle traffic accidents is determined by a number of factors including driver, vehicle, and environment. Airbag deployment, vehicle speed, manner of collusion, atmospheric and light conditions, degree of ejection of occupant’s body from the crash, the use of equipment or other forces to re-move occupants from the vehicle, model and type of vehicle have been considered as important risk factors affecting accident severity as well as driver-related conditions such as age, gender, seatbelt use, alcohol and drug involvement. In this study, we aim to identify important variables that contribute to injury severity in the traffic crashes. A contemporary dataset is obtained from National Highway Traffic Safety Administration’s (NHTSA) Fatality Analysis Reporting System (FARS). To identify accident severity groups, we performed different clustering algorithms including fuzzy clustering. We then assessed the important factors affecting injury severity by using classification and regression trees (CRT). The results which would guide car manufacturers, policy makers and insurance companies indicate that the most important factor in defining injury severity is deployment of air-bag, followed by extrication, ejection occurrences, and travel speed and alcohol involvement

Factors predicting falls in parkinson’s disease: Investigation of motor, non-motor findings and different dual task activities Parkinson hastalığında düşmeyi öngördüren faktörler: Motor ve non-motor bulgular ile farklı çift görev aktivitelerinin birlikte incelenmesi

©Copyright 2020 by Turkish Neurological Society.Objective: The purpose of this study was to identify the predictors of future falls in mild-to-moderate stage Parkinson’s disease (PD) without cognitive impairment. We evaluated motor findings, non-motor findings, and different cognitive dual tasks such as memory, attention, and executive functions added to the 10-meter walk test (10MWT), which has been used to measure walking speed in PD. Materials and Methods: A total of 62 subjects were evaluated in terms of eligibility for the study. Thirty-six patients with PD who met the inclusion criteria were included in the study. Demographic characteristics were identified and clinical findings were examined. Motor and non-motor findings were evaluated using the Turkish version of the Movement Disorder Society-Unified PD Rating scale (MDS-UPDRS). Walking speed was measured with the 10MWT as single task and with different cognitive domains added to the 10MWT as cognitive dual task activities. After the initial evaluation, falls within six months were recorded. Results: The previous history of falls, high scores of MDS-UPDRS 1.A, MDS-UPDRS 1.B, and MDS-UPDRS 2, walking speed under a single task (10MWT) and different cognitive (memory, digit span-forwards, digit span-backwards, and serial 7s) dual tasks were significantly different in terms of the future falls within six months (p<0.05). According to the results of multiple logistic regression analysis using these variables, it was observed that the increase in 10MWT speed decreased the risk of future falls by 0.76 times, and an increase in MDS-UPDS 1.B score increased the risk of future falls by 2.06 times. Conclusion: In our study, in which the known risk factors associated with falls in PD were examined together, the risk of falls in patients with mild-to-moderate stage PD without cognitive impairment was found to be predicted by gait speed and the MDS-UPDRS 1.B score, which evaluated non-motor findings such as sleep disorder, sensory problems, and autonomic dysfunction

Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span.

Hereditary spastic paraplegias (HSPs) are a group of genetic disorders resulting in pyramidal tract impairment, predominantly in lower limbs. KIF1C gene has recently been identified as one of the genetic causes of HSP and associated with pure or complicated HSP. We present three patients with complicated HSP from two unrelated families, who had early onset progressive cerebellar signs and developed pyramidal tract signs during follow-up. Whole exome sequencing in these patients followed by segregation analysis identified novel truncating KIFIC mutations (c.463C> T; p.R155* and c.2478delA; p.A1a828Argfs*13). Neuroimaging findings showed cerebral and upper cervical spinal atrophy, bilateral symmetrical pyramidal tract involvement, and focal cerebral white matter lesions. Patients with KIFIC mutations may present with cerebellar signs and pyramidal findings may emerge later, therefore complicated HSP should be considered in the differential diagnosis of unidentified cases with cerebellar dysfunction. (C) 2018 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved