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The dilemma of X-linked agammaglobulinemia carriers.
J Allergy Clin Immunol Glob
February 2025
Department of Molecular Medicine, Sapienza University, Rome, Italy.
Background: Many patients with X-linked agammaglobulinemia (XLA) nowadays have reached adulthood, as well as their sisters, possibly carriers of a deleterious Bruton tyrosine kinase variant. Studies on motherhood outcomes in families with XLA are lacking.
Objective: We sought to investigate adherence to carrier status screening, interest in preconception and prenatal genetic counseling, and reproductive decisions in relatives with XLA.
Aortoiliac arterial thrombosis and renal artery stenosis in a patient with neonatal multisystem inflammatory syndrome: a case report and review of literature.
Front Pediatr
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Division of Neonatology, Department of Pediatrics, Faculty of Medicine Vajira Hospital, Navamindradhiraj University, Bangkok, Thailand.
Background: Multisystem inflammatory syndrome in neonates (MIS-N) is a rare condition thought to be associated with prenatal exposure to maternal severe acute respiratory syndrome coronavirus 2 infection. This immune-mediated hyperinflammation has been described in neonates with multiorgan dysfunction, including cardiopulmonary, encephalopathy, coagulopathy, and vascular complications. However, renovascular complications in MIS-N are rare.
View Article and Find Full Text PDFA Case of Vasa Previa Diagnosed at Term: Elective Caesarean Section with Good Feto-Maternal Outcomes.
Int Med Case Rep J
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Department of Obstetrics and Gynecology, Universitas Padjadjaran, Bandung, Indonesia.
Vasa previa is a condition where unprotected fetal vessels, neither by placenta nor umbilical cord, lie within the membranes over the internal cervical ostium and beneath the presenting part of the fetus. Due to this condition, the membranous vessels pose a higher risk of being compressed or ruptures and could lead to fetal demise, exsanguination, or even fetal death. In this case report, we reported a case of a 36-year-old woman, G3P2A0, at term gestation and oblique lie.
View Article and Find Full Text PDFCardiac Involvement and TBCK-Related Neurodevelopmental Disorder: Is It a New Feature of This Condition?
Am J Med Genet A
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Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
TBCK (TBC1 Domain-Containing Kinase) encodes a protein playing a role in actin organization and cell growth/proliferation via the mTOR signaling pathway. Deleterious biallelic TBCK variants cause Hypotonia, infantile, with psychomotor retardation and characteristic facies 3. We report on three affected sibs, also displaying cardiac malformations.
View Article and Find Full Text PDFAdvances in Prenatal Cell-Free DNA Screening for Dominant Monogenic Conditions: A Review of Current Progress and Future Directions in Clinical Implementation.
Prenat Diagn
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Key Laboratory of Reproductive Genetics (Ministry of Education) and Department of Reproductive Endocrinology, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Prenatal cell-free DNA (cfDNA) screening has advanced significantly, extending beyond detecting aneuploidies to sub-chromosomal copy number variations. However, its application for screening dominant single-gene conditions, often caused by de novo variants, remains underutilized in the general obstetric population. This study reviews recent data and experience on prenatal cfDNA screening for dominant monogenic conditions using multiple-gene panels, highlighting its potential to enhance early detection and management of genetic disorders.
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