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Child Neurology: Severe -Related Congenital Muscular Dystrophy With Rapidly Progressive Encephalopathy Leading to Infantile Death.
Neurology
February 2025
Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada.
Pathogenic variants in cause congenital muscular dystrophy through hypoglycosylation of alpha-dystroglycan (OMIM #615350). The established phenotypic spectrum of GMPPB-related disorders includes recurrent rhabdomyolysis, limb-girdle muscular dystrophy, neuromuscular transmission abnormalities, and congenital muscular dystrophy with variable brain and eye anomalies. We report a 9-month-old male infant with congenital muscular dystrophy, infantile spasms, and compound heterozygous pathogenic variants (c.
View Article and Find Full Text PDFA nomogram based on InLDH and InNLR for predicting disseminated intravascular coagulation in patients with heat stroke.
Ther Adv Hematol
January 2025
Department of Intensive Care Unit, General Hospital of Southern Theatre Command of PLA, #111 Liuhua Road, Guangzhou, 510010, Guangdong, China.
Background: Heat stroke (HS), a potentially fatal heat-related illness, is often accompanied by disseminated intravascular coagulation (DIC) early, resulting in a poorer prognosis. Unfortunately, diagnosis by current DIC scores is often too late to identify DIC. This study aims to investigate the predictors and predictive model of DIC in HS to identify DIC early.
View Article and Find Full Text PDFContemporary Perspectives in Critical Care of Neuroleptic Malignant Syndrome.
Neurocrit Care
January 2025
Department of Neurology, Mayo Clinic Rochester, Rochester, MN, USA.
Background: Neuroleptic malignant syndrome (NMS) is a psychiatric-neurologic emergency that may require intensive care management. There is a paucity of information about NMS as a critical illness. We reviewed the Mayo Clinic experience.
View Article and Find Full Text PDF"Alkaline Diuresis" is the Savior in 2,4-Dimethylamine Intoxication.
Indian J Nephrol
June 2024
Department of Intesive care, KG Hospital and Postgraduate Medical Institute, Coimbatore, Tamil Nadu, India.
2,4-dimethyalmine is a herbicide commonly used by agriculturalist. Acute intoxication can cause fatal multiorgan damage. No antidote is available.
View Article and Find Full Text PDFThe highly hazardous veterinary drug "maduramicin" and its toxicokinetics in rats.
Heliyon
October 2024
State Key Laboratory of Trauma, Burn and Combined Injury, Third Military Medical University, Chongqing 400038, China.
Background: Maduramicin (MAD) is an anticoccidial veterinary drug, but it frequently causes fatal poisonings in poultry, livestock, or humans. However, there is no specific antidote or guidance on first aid for MAD poisoning.
Aim: The aim of the present study is to evaluate the acute toxicity and toxicokinetics of MAD after oral exposure, so as to make a foundation for developing diagnostic and therapeutic protocols for human intoxication.
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