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Imagine, Discover, Inspire: Proceedings of the 4th International Conference of the Trisomy 21 Research Society.
Neuromolecular Med
January 2025
Department of Pathology and Laboratory Medicine, University of California, Irvine, Irvine, CA, USA.
Down syndrome (DS) or trisomy 21 (T21) is present in a significant number of children and adults around the world and is associated with cognitive and medical challenges. Through research, the T21 Research Society (T21RS), established in 2014, unites a worldwide community dedicated to understanding the impact of T21 on biological systems and improving the quality of life of people with DS across the lifespan. T21RS hosts an international conference every two years to support collaboration, dissemination, and information sharing for this goal.
View Article and Find Full Text PDFAntithrombin III deficiency and idiopathic intracranial hypertension: a case report.
J Med Case Rep
January 2025
Headache Department, Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran.
Background: Idiopathic intracranial hypertension (IIH) is a condition where the pressure of the cerebrospinal fluid in the brain increases without a known cause. It typically affects adults but can also occur in adolescents and children, although it is less common. Numerous elements, including coagulopathy, have been documented in previous cases as potential etiological factors of IIH.
View Article and Find Full Text PDFSevere childhood SLE with refractory autoimmune hemolytic anemia-a therapeutic challenge.
BMJ Case Rep
January 2025
Dermatology, Venereology and Leprosy, AIIMS Rishikesh, Rishikesh, Uttarakhand, India
Paediatric Systemic lupus erythematosus (SLE) constitutes 10 to 20% of cases of SLE with more severe disease and higher mortality. We report a case of an adolescent girl with SLE with multisystem involvement who was started on hydroxychloroquine and oral prednisolone. However, due to persistent worsening of skin lesions and falling cell counts, pulsed dexamethasone was initiated which showed improvement in the skin lesions, cell counts, proteinuria and pleural effusion but there was a persistent fall in the haemoglobin.
View Article and Find Full Text PDFSweat chloride reflects CFTR function and correlates with clinical outcomes following CFTR modulator treatment.
J Cyst Fibros
January 2025
Cystic Fibrosis Therapeutics Development Network Coordinating Center, Seattle Children's Hospital, Seattle, WA, USA; Department of Pediatrics, University of Washington, Seattle, WA, USA; Department of Biostatistics, University of Washington, Seattle, WA, USA.
Background: Highly effective CFTR modulators improve CFTR function and lead to dramatic improvements in health outcomes in many people with cystic fibrosis (pwCF). The relationship between measures of CFTR function, such as sweat chloride concentration, and clinical outcomes in pwCF treated with CFTR modulators is poorly defined. We conducted analyses to better understand the relationships between sweat chloride and CFTR function in vitro, and between sweat chloride and clinical outcomes following CFTR modulator treatment.
View Article and Find Full Text PDFLet's "game" it!: Dangerous games, a new health challenge.
Leg Med (Tokyo)
December 2024
Institut de Médecine Légale, IML/UMJ, CHU Poitiers, rue de la Milétrie, CS 90577, 86021 POITIERS Cedex, France; Faculté de Médecine et de Pharmacie, Univ Poitiers, 6 rue de la Milétrie, 86073 Poitiers, France; Unité de Recherche Clinique, Centre Hospitalier Henri-Laborit, 370 av Jacques Cœur, 86000 Poitiers, France. Electronic address:
In the past several years, children and adolescents have increasingly been enticed into playing dangerous and challenging games, particularly through social networks. Epidemiological data regarding this phenomenon are particularly difficult to come by, as is information regarding the somatic and psychological consequences of these activities, which can end up having fatal outcomes. We here report the case of a suspicion of child abuse that turned out to be due to participation in a challenge game known as "The Deodorant Challenge" by a 10-year-old child who presented with burn-like lesions.
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