CLN8 Gene Compound Heterozygous Variants: A New Case and Protein Bioinformatics Analyses.

The CLN8 disease type refers to one of the neuronal ceroid lipofuscinoses (NCLs) which are the most common group of neurodegenerative diseases in childhood. The clinical phenotypes of this disease are progressive neurological deterioration that could lead to seizures, dementia, ataxia, visual failure, and various forms of abnormal movement. In the current study, we describe two patients who presented with atypical phenotypic manifestation and protracted clinical course of CLN8 carrying a novel compound heterozygous variant at the CLN8 gene. Our patients developed a mild phenotype of CLN8 disease: as they presented mild epilepsy, cognitive decline, mild learning disability, attention-deficit/hyperactivity disorder (ADHD), they developed a markedly protracted course of motor decline. Bioinformatic analyses of the compound heterozygous CLN8 gene variants were carried out. Most of the variants seem likely to act by compromising the structural integrity of regions within the protein. This in turn is expected to reduce the overall stability of the protein and render the protein less active to various degrees. The cases in our study confirmed and expanded the effect of compound heterozygous variants in CLN8 disease.

Open tracheostomy training: a nationwide survey among Otolaryngology-Head and Neck Surgery residents.

The aim of this study was to examine the training methods and needs of Otolaryngology-Head and Neck Surgery (OTO-HNS) residents to independently perform open tracheostomy (OT). An anonymous 26-items questionnaire pertaining to OT teaching aspects was distributed to all 93 Israeli OTO-HNS residents during March-June 2016. Residents were categorized as 'juniors,' if they were in their post-graduate year (PGY)-1 and PGY-2; 'mid-residency' (PGY-3 and PGY-4); or 'seniors' (PGY-5 and PGY-6). Response rate was 74% (n = 69). There were 25 'juniors' (36%), 24 'mid-residency' (35%) and 20 'seniors' (29%). Overall, the responses of the 3 groups were similar. Forty-seven (68%) residents estimated that there are ≥ 50 tracheostomies/year in their hospital, which roughly corresponds to an exposure of ~ 8 tracheostomies/year/resident. There was an inconsistency between the number of teaching hours given and the number of hours requested for OT training (23% received ≥ 5 h, but 82% declared they needed ≥ 5 h). Eighty-two percentage reported that their main training was conducted during surgery with peer residents or senior physicians. Forty-five (65%) feel competent to perform OT, including juniors. Due to the need to perform OT in urgent scenarios, the competency of OTO-HNS resident is crucial. Training for OT in Israeli OTO-HNS residency programs is not well structured. Yet, residents reported they feel confident to perform OT, already in the beginning of their residency. Planned educational programs to improve OT training should be done in the beginning of the residency and may include designated 'hands-on' platforms; objective periodic surgical competence assessments; and specialist's feedback, using structured assessment forms.