A 41-year-old man developed rapidly progressive cranial neuropathies and muscle weakness followed by respiratory failure, requiring ventilation support. On examination, there was marked bilateral ptosis and ophthalmoplegia with bulbar, neck and proximal upper limb weakness. He had a recent open left humeral fracture that eventually required amputation. Despite immunoglobulin therapy, his progressive weakness continued. Multiple investigation results were inconclusive. Eventually, botulinum type A toxin was found positive, by which time the therapeutic window for antitoxin had passed. He continued on supportive management and was treated for concomitant infections and nosocomial illnesses. He was subsequently weaned from respiratory support and has made a good neurological recovery.
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http://dx.doi.org/10.1136/pn-2023-004036 | DOI Listing |
Zh Nevrol Psikhiatr Im S S Korsakova
December 2024
Bochkov Research Centre for Medical Genetics, Moscow, Russia.
A fifth world case of autosomal recessive Siddiqi syndrome (SIDDIS) related to ene is presented. In a consanguineous Lezgin (a Dagestan ethnicity) family, there were two affected brothers aged 28 yrs (proband, personally examined) and 32 yrs. Whole-exome sequencing followed by familial Sanger sequencing detected a novel missence variant c.
View Article and Find Full Text PDFAutism Res
December 2024
Psychiatry and Addictology Department, CIUSSS-NIM Research Center, University of Montreal, Montreal, Quebec, Canada.
Child-directed speech (CDS), which amplifies acoustic and social features of speech during interactions with young children, promotes typical phonetic and language development. In autism, both behavioral and brain data indicate reduced sensitivity to human speech, which predicts absent, decreased, or atypical benefits of exaggerated speech signals such as CDS. This study investigates the impact of exaggerated fundamental frequency (F0) and voice-onset time on the neural processing of speech sounds in 22 Chinese-speaking autistic children aged 2-7 years old with a history of speech delays, compared with 25 typically developing (TD) peers.
View Article and Find Full Text PDFSci Rep
December 2024
School of BioSciences, The University of Melbourne, Melbourne, 3010, Australia.
Diethylstilbestrol (DES) is an estrogenic endocrine disrupting chemical (EDC) that was prescribed to millions of pregnant women worldwide, leading to increased rates of infertility in the exposed offspring. We have previously demonstrated that this reduced fertility persists for multiple generations in the mouse. However, how altered ovarian function contributes to this infertility is unknown.
View Article and Find Full Text PDFSleep Med
December 2024
Department of Psychiatry & Division of Sleep Medicine, AIIMS Rishikesh, India.
Among the mental health outcomes and disaster types (determined by damage to life, property, long-term consequences, displacement, and unpredictability), floods are associated with anxiety and sleep problems, mudslides with anxiety and mood disturbance, volcanic eruptions with acute stress reactions, and earthquakes with anxiety, depression, and physical complaints. Disasters such as tunnel collapse are unique as it involves the healthy, without loss of personal property or displacement; hence, they can have very different health-related outcomes. In this study, we explore mental health and sleep-related issues in workers rescued from an under-construction collapsed tunnel trapped for 17 days.
View Article and Find Full Text PDFPLoS Comput Biol
December 2024
Department of Mathematics, University of Manchester, Manchester, United Kingdom.
Understanding the temporal relationship between key events in an individual's infection history is crucial for disease control. Delay data between events, such as infection and symptom onset times, is doubly censored because the exact time at which these key events occur is generally unknown. Current mathematical models for delay distributions are derived from heuristic justifications.
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