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Trazodone, dibenzoylmethane and tauroursodeoxycholic acid do not prevent motor dysfunction and neurodegeneration in Marinesco-Sjögren syndrome mice.
PLoS One
January 2025
Department of Neuroscience, Laboratory of Prion Neurobiology, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Milan, Italy.
There is no cure for Marinesco-Sjögren syndrome (MSS), a genetic multisystem disease linked to loss-of-function mutations in the SIL1 gene, encoding a BiP co-chaperone. Previously, we showed that the PERK kinase inhibitor GSK2606414 delays cerebellar Purkinje cell (PC) degeneration and the onset of ataxia in the woozy mouse model of MSS. However, GSK2606414 is toxic to the pancreas and does not completely rescue the woozy phenotype.
View Article and Find Full Text PDFGenetics of Prader-Willi and Angelman syndromes: 2024 update.
Curr Opin Psychiatry
December 2024
Departments of Psychiatry &, Behavioral Sciences and Pediatrics, University of Kansas Medical Centre, Kansas City, Kansas, United States.
Purpose Of Review: Prader-Willi (PWS) and Angelman (AS) syndromes arise from errors in 15q11-q13 imprinting. This review describes recent advances in genomics and how these expand our understanding of these rare disorders, guiding treatment strategies to improve patient outcomes.
Recent Findings: PWS features include severe infantile hypotonia, failure to thrive, hypogonadism, developmental delay, behavioral and psychiatric features, hyperphagia, and morbid obesity, if unmanaged.
Beyond Dermatological Findings: Multisystem Involvement in Prolidase Deficiency.
Turk Arch Pediatr
January 2025
Division of Allergy and Immunology, Department of Pediatrics, Marmara University Faculty of Medicine, İstanbul, Türkiye.
Objective: Prolidase deficiency is a metabolic and immunological disorder that is inherited in an autosomal recessive manner. In prolidase deficiency, a broad spectrum of differences is observed in patients, ranging from asymptomatic to multisystem involvement. There is scarce information in the literature on the atypical features and immunophenotypes of this disease.
View Article and Find Full Text PDFSelective diet induced nutritional optic neuropathy in developmentally normal children.
Am J Ophthalmol Case Rep
March 2025
Department of Ophthalmology, Boston Children's Hospital, 300 Longwood Ave, Fegan 4, Boston, MA, 02115, USA.
Purpose: Nutritional deficiencies in developed countries are a rare but potentially intervenable cause of optic neuropathy in pediatric populations. To date, much of the literature on nutritional optic neuropathy has focused on children with developmental delay, however, a growing body of evidence supports other underreported risk factors.
Observations: We describe three pediatric patients with normal neurodevelopment, who presented with decreased vision and were subsequently found to have optic neuropathy attributed to vitamin deficiencies, predominantly vitamin B12.
Spinal Cord Injury From Tuberculous Spondylitis Misdiagnosed as Metastatic Spinal Tumor and Bacterial Spondylitis: A Case Report & Literature Review.
Korean J Neurotrauma
December 2024
Department of Neurosurgery, College of Medicine, Korea University Guro Hospital, Seoul, Korea.
Tuberculous (TB) spondylitis, also known as Pott's disease, was first described by Percivall Pott in 1779. The diagnosis of TB spondylitis is often delayed because of the non-specific nature of the infection, which can lead to severe consequences. Differential diagnosis is especially critical in cancer patients undergoing chemotherapy who present with lymph node or bone metastasis.
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