Congenital myasthenic syndrome with episodic apnea is associated with pathogenic variants in the CHAT gene. While respiratory disorders and oculomotor findings are commonly reported in affected individuals, a subset of patients only present with muscle weakness and/or ptosis but not apneic crises. In this case series, we describe five individuals with exercise intolerance caused by single nucleotide variants in the CHAT gene. The age of onset ranged from 1 to 2.5 years, and all patients exhibited a fluctuating course of congenital myasthenic syndrome without disease progression over several years. Notably, these patients maintained a normal neurological status, except for the presence of abnormal fatigability in their leg muscles following prolonged physical activity. We conducted a modified protocol of repetitive nerve stimulation on the peroneal nerve, revealing an increased decrement in amplitude and area of compound muscle action potentials of the tibialis anterior muscle after 15-20 min of exercise. Treatment with 3,4-diaminopyridine showed clear improvement in two children, while one patient experienced severe adverse effects and is currently receiving a combination of Salbutamol Syrup and pyridostigmine with slight positive effects. Based on our findings and previous cases of early childhood onset with muscle fatigability as the sole manifestation, we propose the existence of a mild phenotype characterized by the absence of apneic episodes.

Illegal, unreported, and unregulated fishing, including that of sharks, poses a significant threat to marine ecosystems and individual species. I use data from the media, tourists, and artisan fishermen to gain insight into the trade in the world\'s largest fish, the whale shark (Rhincodon typus). I focus on the Indonesian island of Java where, along its south coast, whale sharks are landed and butchered on the beach in view of hundreds of people and local media. Whale sharks are typically caught in fishing nets and dragged alongside boats to the shallows, where they are butchered. The meat and oil (valued at ~USD 2000 per shark) are sold and distributed within the community. I document 58 landings of mainly immature whale sharks (2002-2022). Artisanal fishermen see the landing of whale sharks as a fortuitous event, but the species is protected, and Indonesia is a signatory to various international agreements that preclude the fishing of whale sharks. It is imperative for the conservation of whale sharks that the various parties in Indonesia adhere better to their own rules and regulations protecting this species.

ALG2 mutations are extremely rare causes of congenital myasthenic syndromes (CMS). The clinical phenotype and treatment response is therefore not well described. We present the case of a baby who immediately after birth presented with pronounced truncal hypotonia, proximal muscle weakness and feeding difficulties. Single fibre electromyography showed neuromuscular transmission failure and salbutamol and ephedrine treatment improved both muscle weakness and neuromuscular transmission. Genetic analysis revealed a likely pathogenic variant c.1040del, p.(Gly347Valfs*27) in exon 2 and a variant of uncertain significance, c.239G>A, p.(Gly80Asp) in exon 1 of the ALG2 gene. Western blot in whole cell lysates of HEK293 cells transfected with p.Gly80Asp, or p.Gly347Valfs*27 expression constructs indicated that p.Gly347Valfs*27 is likely a null allele and p.Gly80Asp is pathogenic through marked reduction of ALG2 expression. This case highlights the utility of functional studies in clarifying variants of unknown significance, in suspected cases of CMS.

Congenital myasthenic syndrome (CMS) refers to a heterogeneous group of inherited disorders, characterized by defective transmissionat the neuromuscular junction (NMJ). Patients with CMS showed similar muscle weakness, while other clinical manifestations are mostly dependent on genetic factors. This disease,caused bydifferent DNA mutations, is genetically inherited. It is also associated with mutations of genes at NMJ, involving the acetylcholine receptor (AChR) subunits. Here, we present the case ofa five-year-old Iranian boywith CMS, undergoingtargeted sequencing of a panel of genes, associated with arthrogryposis and CMS. The patient had six affected relatives in his genetic pedigreechart. The investigations indicated a homozygous single base pair deletion at exon 12 of the CHRNE gene (chr17:4802186delC).This region was conserved across mammalian evolution and was not submitted to the 1000 Genomes Project database.Overall, the CHRNEvariant may beclassified as a significant variant in the etiology of CMS.It can besuggested thatthe Iranian CMS population carry regional pathogenic mutations, which can be detected viatargeted and whole genome sequencing.

BACKGROUND: As national quality initiatives are increasing requirements for individual physician data, our department of surgery initiated a surgeon-specific reporting (SSR) program to assess the value of personal knowledge on individual performance quality. We sought to evaluate the use of SSR as a tool to enable surgeons to assess and improve their clinical performance, and to identify barriers to use of their reports.
METHODS: Qualitative research design involving semistructured interviews of surgeons who received performance reports derived from National Surgical Quality Improvement Program (NSQIP), Surgical Care Improvement Project (SCIP), and the Centers for Medicare and Medicaid Services (CMS) core measures and hospital administrative data. Transcripts were analyzed by the constant comparative method.
RESULTS: Twenty-four of 39 surgeons (61.5%) who received their SSRs agreed to be interviewed and 23 were interviewed. About half (11 of 23) demonstrated comprehension of the data validity, accuracy, or complexity. Of these, 6 took steps to validate data or improve performance. Most respondents believed SSR would lead to performance improvement through knowledge of personal outcomes and peer comparison; however, they perceived SSR had limitations, such as small sample size and potential coding errors, and could lead to unintended consequences, such as inaccurate interpretation by others and surgeons\' aversion to selecting high-risk patients. Respondents also suggested logistical improvements to reporting methods, such as report format and definitions of metrics.
CONCLUSIONS: Surgeon-specific reporting has the potential to empower surgeons to improve their practice; however, more surgeons need efficient guidelines to understand the metrics. Our findings can be used to guide development of more SSR programs. Whether SSR programs lead to improvements in surgical outcomes is a matter for future research.