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Simultaneous death of two siblings, a Senna matter?
Toxicon
December 2024
CHU Lille, Unité Fonctionnelle de Toxicologie, 59000 Lille, France; Univ. Lille, URL 4483 - IMPECS - IMPact de l'Environnement Chimique sur la Santé humaine, Lille, France. Electronic address:
Senna is a medicinal herb commonly used as a laxative and dietary aid for weight loss. Repeated consumption of Senna may lead to persistent diarrhea. Furthermore, cases of acute liver failure and hepato-encephalopathic syndrome after chronic Senna ingestion were reported in literature.
View Article and Find Full Text PDFTrifunctional protein deficiency (TFP) is a disorder of fatty acid beta-oxidation associated with metabolic, cardiac, and liver dysfunction in severe forms. We present two siblings diagnosed by newborn screening and confirmed by biochemical testing at birth. Their clinical course was complicated by recurrent rhabdomyolysis, retinopathy, and hypoparathyroidism.
View Article and Find Full Text PDFClinical and genetic characterization of patients with late onset Wilson's disease.
NPJ Genom Med
December 2024
Experimental Center of Clinical Research, the First Affiliated Hospital of Anhui University of Chinese Medicine, Hefei, China.
Wilson's disease (WD) typically manifests in children and young adults, with little knowledge of its late-onset forms. In this study, we performed a retrospective cohort study of 105 WD patients (99 index cases, 6 siblings) with an onset age ≥35 years. We compared 99 index late-onset patients with 1237 early-onset patients and analyzed the ATP7B variant penetrance referring to the Genome Aggregation Database (gnomAD).
View Article and Find Full Text PDFAllogeneic haematopoietic stem-cell transplantation for children with refractory systemic juvenile idiopathic arthritis and associated lung disease: outcomes from an international, retrospective cohort study.
Lancet Rheumatol
December 2024
Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA; Pharming Healthcare, Warren, NJ, USA. Electronic address:
Background: Systemic juvenile idiopathic arthritis-related lung disease (sJIA-LD) is a severe complication in patients with treatment-refractory systemic juvenile idiopathic arthritis (sJIA). The objective of this study was to evaluate the effect of allogeneic haematopoietic stem-cell transplantation (HSCT) in a cohort of children with sJIA-LD.
Methods: This international, retrospective cohort study was performed in nine hospitals across the USA and Europe in children with sJIA-LD who had received allogeneic HSCT.
Adult-onset status epilepticus in patients with COQ8A coenzyme Q10 deficiency: A case series.
Epilepsy Behav Rep
October 2024
Department of Psychiatry and Psychotherapy, Philipps-University Marburg, Marburg, Germany.
This case series describes the clinical features, diagnostic challenges, treatment approaches, and outcomes of three adult patients with COQ8A-related CoQ10 deficiency presenting with focal status epilepticus, who were effectively treated at the Department of Neurology, Philipps University Marburg, Marburg, Germany. The patients, all from consanguineous families with the first two being siblings, presented with a late onset of the disease, characterized by progressive cerebellar ataxia and epilepsy, with clinical deterioration and focal status epilepticus occurring in adulthood. The first patient exhibited myoclonic status, while the second and third patients presented with bilateral tonic-clonic seizures followed by focal status epilepticus manifesting with cortical blindness.
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