Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD; OMIM 226670) is an autosomal recessive form of EBS, characterized by skin blistering at birth and delayed onset of muscle dystrophy. Mutations in PLEC, the gene encoding plectin, have been identified to be causal for EBS-MD. We report a case of EBS-MD with diffuse alopecia. Genetic study revealed the patient carrying compound heterozygous mutations in PLEC despite the consanguineous parentage.

Plasma torch is one of the most important parts for plasma arc generating system. A design of orifices in a nozzle would decide the properties of plasma arc. However, mechanisms of orifice to plasma arc are seldom discussed. In this paper, the plasma arc with two assistant orifices were analyzed by finite element method. It was concluded that the plasma arc would be further compressed in the direction parallel to two assistant orifices, but expand perpendicular to assistant orifices. Through the constriction of two assistant orifices, the shape of the plasma arc would be elliptical other than circular of the oridinary plasma arc. The torch design with two assistant orifices could be available to many fields such as plasma arc welding, especially to a welding torch with a large pressure chamber.

BackgroundBICRA, a transcript regulator, was identified as the genetic factor of Coffin–Siris syndrome 12 (CSS12) recently, which was characterized by diverse neurodevelopmental delays. Up to now, limited studies of BICRA in neurodevelopmental delay have been reported.MethodsClinical data such as EEGs, MRIs, routine blood, and physical examination were collected. Trio whole exome sequencing (WES) of the family was performed, and all variants with a minor allele frequency (<0.01) in exon and canonical splicing sites were selected for further pathogenic evaluation. Candidate variants were validated by Sanger sequencing. The BICRA‐related literature was reviewed and the clinical characteristics were summarized.ResultsWe reported a CSS12 proband with a narrow and slightly clinical phenotype who only exhibited language developmental delay, hypotonia, and slight gastrointestinal features. WES revealed a de novo variant in exon 6 of BICRA [NM_015711.3: c.1666C>T, p.Gln556*]. This variant resulted in an early translation termination at 556th of BICRA, not collected in the public population database (gnomAD), and classified as pathogenic according to the ACMG guideline.ConclusionOur results expanded the pathogenic genetic and clinical spectrum of BICRA‐related diseases.

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Background: Relative energy deficiency in sports (RED-S) is well-recognized in women competing in endurance sports; however, it is less common in males competing in non-endurance sports. Here, we report a case of hypogonadotropic hypogonadism associated with RED-S in an elite male non-endurance skill athlete caused by a change in workout over a short time frame.Case presentation: An 18-year-old elite male non-endurance skill athlete complained of fatigue, depression, and inattention. Blood tests showed low total testosterone levels and a physical examination revealed Tanner stage phase IV-V. A gonadotropin-releasing hormone (GnRH) stimulation test revealed that the luteinizing hormone (LH) level was 10 times above normal, suggesting hypothalamic hypogonadism. However, magnetic resonance imagings (MRI) of pituitary gland, brain, and adrenal glands were normal. Due to COVID-19 pandemic, he was quarantined for 2 weeks. During that time, he only performed a basic workout. At the end of quarantine, his coach made him follow a new training program that was >50% more intense than the one before quarantine. He also had to restrict calorie intake for snowboarding. He was diagnosed as relative energy deficiency in sport (RED-S). The condition resolved after lifestyle and training modifications.Conclusions: RED-S is not restricted to endurance athletes. Elite athletes performing non-endurance sports can also suffer from it after a significant modification of training. Sports scientists/trainers should monitor caloric intake and training intensity to avoid RED-S, protect the health and improve the performance of all athletes.