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Three cases of hemoglobin M disease in a family lineage: Case report and literature review.
Medicine (Baltimore)
January 2025
Department of Pediatric Hematology, Children's Medical Center, The First Hospital of Jilin University, Changchun, China.
Rationale: This study presents a case of hemoglobin M disease (HMD), a rare inherited disorder characterized by persistent cyanosis and hypoxemia, observed across 3 generations within a single family. The diagnosis of HMD poses significant challenges, particularly in asymptomatic individuals, due to its rarity and the subtlety of its symptoms. Notably, there is a scarcity of reports on methemoglobinemia in pediatric populations, which further complicates early detection and intervention.
View Article and Find Full Text PDFRejunctive Moves Toward Systemic Healing: A Contextual Family Therapy Approach to Father's Absence.
Fam Process
March 2025
Couple and Family Therapy Program, Alliant International University, Irvine, California, USA.
The phenomena of father's absence and the disruption of a family unit due to social justice issues like incarceration and mental health/substance misuse challenges are widely documented, and their effects on the whole family are well established in the literature. This paper specifically examines how systemic inequities like racism contribute to destructive entitlements that can occur transgenerationally within families affected by father's absence. The consideration of racial trauma is crucial, as father's absence and family disruption are not limited to any one racial or ethnic group, but the effects are often exacerbated for families of color due to the intersecting impacts of systemic racism.
View Article and Find Full Text PDFRisk Factors for Developmental Dysplasia of the Hip Before 3 Months of Age: A Meta-Analysis.
JAMA Netw Open
January 2025
Interdisciplinary Orthopaedics, Department of Orthopaedic Surgery, Aalborg University Hospital, Aalborg, Denmark.
Importance: Two meta-analyses published in 2012 found breech presentation, family history of developmental dysplasia of the hip (DDH), female sex, and primiparity to increase the risk of DDH. However, the DDH definition, reference tests, and the age of the examined children varied considerably, complicating the translation of those findings to current screening guidelines.
Objective: To evaluate the association of previously proposed risk factors with the risk of sonography-verified DDH.
Inherited non-syndromic polydactyly in a Berber and Arabian-Berber horse family.
Equine Vet J
January 2025
Université de Lyon, VetAgro Sup, Marcy l'Etoile, France.
Background: Supernumerary digits, or polydactyly, have been described in various species including humans, wild and domestic animals. In horses, it represents the most common congenital limb malformation, which has only been described in isolated cases or nuclear families. Molecular aetiology has not been reported.
View Article and Find Full Text PDFPhenotypic variability in progressive encephalopathy with brain atrophy and thin corpus callosum: insights from two families.
Neurogenetics
January 2025
Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey.
The cytoskeleton, composed of microtubules, intermediate filaments and actin filaments is vital for various cellular functions, particularly within the nervous system, where microtubules play a key role in intracellular transport, cell morphology, and synaptic plasticity. Tubulin-specific chaperones, including tubulin folding cofactors (TBCA, TBCB, TBCC, TBCD, TBCE), assist in the proper formation of α/β-tubulin heterodimers, essential for microtubule stability. Pathogenic variants in these chaperone-encoding genes, especially TBCD, have been linked to Progressive Encephalopathy with Brain Atrophy and Thin Corpus Callosum (PEBAT, OMIM #604,649), a severe neurodevelopmental disorder.
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