A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.

We recently reported a deletion of exon 2 of the trimethyllysine hydroxylase epsilon (TMLHE) gene in a proband with autism. TMLHE maps to the X chromosome and encodes the first enzyme in carnitine biosynthesis, 6-N-trimethyllysine dioxygenase. Deletion of exon 2 of TMLHE causes enzyme deficiency, resulting in increased substrate concentration (6-N-trimethyllysine) and decreased product levels (3-hydroxy-6-N-trimethyllysine and γ-butyrobetaine) in plasma and urine. TMLHE deficiency is common in control males (24 in 8,787 or 1 in 366) and was not significantly increased in frequency in probands from simplex autism families (9 in 2,904 or 1 in 323). However, it was 2.82-fold more frequent in probands from male-male multiplex autism families compared with controls (7 in 909 or 1 in 130; P = 0.023). Additionally, six of seven autistic male siblings of probands in male-male multiplex families had the deletion, suggesting that TMLHE deficiency is a risk factor for autism (metaanalysis Z-score = 2.90 and P = 0.0037), although with low penetrance (2-4%). These data suggest that dysregulation of carnitine metabolism may be important in nondysmorphic autism; that abnormalities of carnitine intake, loss, transport, or synthesis may be important in a larger fraction of nondysmorphic autism cases; and that the carnitine pathway may provide a novel target for therapy or prevention of autism.

"Stay tuned": an exploratory content and thematic analysis of brain injury videos on YouTube.

PURPOSE: This exploratory study aimed to examine brain injury videos on YouTube to determine who posted about brain injury, content categories of videos, and how brain injury was represented. METHODS: A mixed methods approach was used. Brain injury videos on YouTube were collected in November 2022 and analysed quantitatively and qualitatively using descriptive statistics and content analysis. Visual data analysis was used to generate visual descriptions of a representative sample of the videos, and these were thematically analysed alongside the video transcripts. RESULTS: The sample of 100 YouTube videos consisted of educational, lived experience, and promotional videos. Medical organisations and hospitals were the predominant source of videos. An overarching theme of "Video tells a story" was generated from eighteen visual descriptions and transcripts which contained three major themes: (a) we choose how the story is told, (b) recovery is a process, and (c) it changed my life. CONCLUSION: YouTube may have a storytelling role for both people with a brain injury wishing to share their story and for health professionals wishing to communicate information about brain injury. This research may have clinical implications for the integration of YouTube in brain injury rehabilitation and the use of YouTube for health communication.

Existing literature demonstrates that social media platforms, including Twitter (now known as X) and Facebook, are used by people with brain injury, health professionals and the public to share and access content.YouTube is used by medical and educational organisations, health professionals, and people with brain injury to post videos that discuss educational, medical, promotional, and lived experience topics.YouTube has a storytelling role that enables users to share stories about brain injury, including personal experiences posted by people with brain injury. This may be significant as storytelling allows people with brain injury to build connections with others.YouTube is also used by health professionals to share factual information about brain injury. The choices made in videos (e.g., audio-visual content, portrayal of brain injury, language style) impacted the research team's connection with videos.Health professionals should integrate lived experience and the voices of people with brain injury to create authentic videos that resonate with audiences.

Does single-port laparoscopic sleeve gastrectomy result in improved short-term perioperative outcomes compared to conventional multi-port laparoscopic sleeve gastrectomy?

A best evidence topic in bariatric surgery was written according to a structured protocol. The question asked whether single-port laparoscopic sleeve gastrectomy produces better short-term perioperative outcomes compared to the conventional multi-port laparoscopic sleeve gastrectomy in the treatment of morbid obesity. A Pubmed search generated 82 papers, 6 of which represented the best evidence to answer the clinical question. Of the 6, 1 paper was an updated analysis of the same patient cohort. The evidence on this subject is good. Five papers were level III, nonrandomized studies, 2 of which were prospective and 3 were retrospective cohort studies. The sixth paper was a level II, randomized, prospective study. We conclude that single-port laparoscopic sleeve gastrectomy results in less use of postoperative analgesia and better cosmetic satisfaction compared to multi-port laparoscopic sleeve gastrectomy in the short-term. The two groups showed comparable results in terms of mean operative time, mean hospitalization, and percentage excess weight loss. There was no difference in rate of postoperative complications including trocar site incisional hernia, staple line leaks, and bleeding.