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Synaptic-dependent developmental dysconnectivity in 22q11.2 deletion syndrome.
Sci Adv
March 2025
Functional Neuroimaging Laboratory, Istituto Italiano di Tecnologia, Center for Neuroscience and Cognitive Systems @UniTn, Rovereto, Italy.
Chromosome 22q11.2 deletion increases the risk of neuropsychiatric disorders like autism and schizophrenia. Disruption of large-scale functional connectivity in 22q11 deletion syndrome (22q11DS) has been widely reported, but the biological factors driving these changes remain unclear.
View Article and Find Full Text PDFChromosomal Microarray in Children Born Small for Gestational Age - Single Center Experience.
Balkan J Med Genet
December 2024
Institute of Human Genetics, Faculty of Medicine, University of Belgrade, Serbia.
The association between small for gestational age birth and chromosomal abnormalities identified through karyotyping is well-established. Notably, advancements in cytogenetic techniques have shifted from routine karyotyping to the recommended use of microarray technology. This transition allows higher resolution and the detection of sub-microscopic copy number variants (CNVs).
View Article and Find Full Text PDFA Rare Case of Unilateral Congenital Asymmetric Crying Facies in a Neonate: Case Report.
Indian J Otolaryngol Head Neck Surg
February 2025
St. Stephens Hospital Delhi, New Delhi, India.
Unlabelled: Asymmetric crying facies (ACF) due to Congenital hypoplasia of the depressor anguli oris muscle (CHDAOM) is a rare congenital condition that affects the development of a specific facial muscle responsible for depressing the corner of the mouth. CHDAOM has an unknown aetiology but is associated with other genetic syndromes like DiGeorge syndrome and Cayler cardiofacial syndrome. We report a distinct case of a newborn with unilateral asymmetric crying facies at our hospital, and clinical features, examination, and management of the above condition.
View Article and Find Full Text PDFReview of the Pathophysiology and Clinical Manifestations of 22q11.2 Deletion and Duplication Syndromes.
Clin Rev Allergy Immunol
March 2025
Joe DiMaggio Children's Hospital, Hollywood, FL, USA.
22q11.2 deletion and duplication syndromes are complex genetic syndromes composed of a wide spectrum of clinical manifestations, mostly affecting cardiovascular, endocrine, neurodevelopmental, and immune functioning. 22q11.
View Article and Find Full Text PDFDrug-induced Liver Injury from Intravenous Immunoglobulin for Prevention of Recurrent Gestational Alloimmune Liver Disease: A Clinical Catch-22.
AJP Rep
July 2024
Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Bellevue Hospital Center, New York, New York.
Gestational alloimmune liver disease (GALD) is a rare autoimmune syndrome in which maternal antibodies lead to in utero fetal hepatocyte destruction, often presenting as neonatal liver failure and hemochromatosis. Antenatal intravenous immunoglobulin (IVIG) is generally accepted to be safe in pregnancy with demonstrable benefits for reducing GALD recurrence risk in subsequent pregnancies. Here we present a case of a 33-year-old woman with a prior neonatal demise due to GALD who received multiple prophylactic IVIG infusions in a subsequent twin pregnancy complicated by maternal jaundice and acute hepatitis.
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