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Decoding brain structure to stage Alzheimer's disease pathology in Down syndrome.
Alzheimers Dement
January 2025
Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.
Introduction: Alzheimer's disease (AD) in Down syndrome (DS) is associated with changes in brain structure. It is unknown if thickness and volumetric changes can identify AD stages and if they are similar to other genetic forms of AD.
Methods: Magnetic resonance imaging scans were collected for 178 DS adults (106 nonclinical, 45 preclinical, and 27 symptomatic).
The relationships of plasma profenofos and ethanol concentrations to clinical outcome in acute profenofos self-poisoning.
Clin Toxicol (Phila)
January 2025
Faculty of Medicine, South Asian Clinical Toxicology Research Collaboration, University of Peradeniya, Peradeniya, Sri Lanka.
Introduction: Many patients acutely self-poisoned with organophosphorus insecticides have co-ingested ethanol. Currently, profenofos 50% emulsifiable concentrate (EC50) is commonly ingested for self-harm in Sri Lanka. Clinical experience suggests that ethanol co-ingestion makes management more difficult.
View Article and Find Full Text PDFExperiences of African women who migrate to a developed country and encounter intimate partner violence: a systematic review of qualitative evidence.
JBI Evid Synth
January 2025
School of Nursing and Midwifery, University of Newcastle, Newcastle, New South Wales, Australia.
Objective: The objective of this review was to synthesize the available evidence on the experiences of African women who migrated to a developed country and encountered intimate partner violence (IPV).
Introduction: IPV is a significant public health issue, and migrant women living in developed countries are particularly vulnerable to IPV, experiencing disproportionately higher rates of IPV. Understanding the experiences of these women can inform health policy and decision-making in clinical practice to minimize IPV.
Cerebellar infarction due to atlantoaxial subluxation in spondyloepimetaphyseal dysplasia-joint laxity type 1 case.
Clin Dysmorphol
December 2024
Department of Pediatric Genetics.
Introduction: Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMD-JL1) is an extremely rare skeletal dysplasia belonging to a group of disorders called linkeropathies. It is characterized by skeletal and connective tissue abnormalities. Biallelic variants in genes encoding enzymes that synthesize the tetrasaccharide linker region of glycosaminoglycans lead to linkeropathies, which exhibit clinical and phenotypic features that overlap with each other.
View Article and Find Full Text PDFBiallelic variants in AGRN with recurrent pregnancy losses in a family with a fetal akinesia deformation sequence.
Clin Dysmorphol
January 2025
Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Introduction: Agrin, encoded by AGRN, plays a vital role in the acetylcholine receptor clustering pathway, and any defects in this pathway are known to cause congenital myasthenic syndrome (CMS) 8 in early childhood with variable fatigable muscle weakness. The most severe or lethal form of CMS manifests as a fetal akinesia deformation sequence (FADS). To date, only one family has been reported with an association of null variants in AGRN and a lethal FADS.
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