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Overweight and glucose/lipid metabolism abnormality associated with SSRIs: a pharmacovigilance study based on the FDA adverse event reporting system.
Front Pharmacol
January 2025
Fengxian Hospital, Southern Medical University, Shanghai, China.
Background: In the past few decades, selective serotonin reuptake inhibitors (SSRIs) became widely used antidepressants worldwide. Therefore, the adverse reactions of patients after SSRI administration became a public and clinical concern. In this study, we conducted a pharmacovigilance study using the Adverse Event Reporting System (FAERS) database of the US Food and Drug Administration.
View Article and Find Full Text PDFPregnancy Complications and Outcomes in Obese Women with Gestational Diabetes.
Medicina (Kaunas)
January 2025
Department of Obstetrics and Gynaecology, Medical Academy, Lithuanian University of Health Sciences, A. Mickevicius St. 7, 44307 Kaunas, Lithuania.
: To assess pregnancy and delivery complications in obese women with gestational diabetes mellitus (GDM) and neonatal weight and condition after birth. : A retrospective tertiary referral centre study included all cases of GDM in the Department of Obstetrics and Gynaecology of the Lithuanian University of Health Sciences (LUHS) Birth Registry from 1 January 2019 to 31 December 2019. We included 583 women with GDM and singleton pregnancies.
View Article and Find Full Text PDFHepatic manifestations in VPS53-related pontocerebellar hypoplasia type 2E: a case report.
Eur J Med Genet
January 2025
APHM, Timone Enfant, Service de pédiatrie multidisciplinaire, Marseille France; Aix Marseille Univ, INSERM, MMG, Marseille France.
Pathogenic variants in VPS53 are associated with pontocerebellar hypoplasia type 2E (PCH2E), characterized by microcephaly, severe neurodevelopmental impairment and epilepsy. We present a case of a female neonate with VPS53 pathogenic variants exhibiting the classic phenotypic features along with liver disease and deafness, which had not been described in previously reported cases. Similarly, while liver abnormalities have been reported in patients with mutations in other genes coding for proteins of the GARP or EARP complex, of which VPS53 is a subunit, liver disease has not been described in PCH2E until now.
View Article and Find Full Text PDFGriscelli syndrome: Erdheim-Chester disease-like local presentation progressing to accelerated phase.
Turk J Pediatr
November 2024
Division of Pediatric Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Türkiye.
Background: Griscelli syndrome (GS) is a rare genetic disorder characterized by oculocutaneous albinism and variable immune dysfunction. Among three distinct types of GS, occurring due to different genetic mutations; GS type 1 presents with neurological manifestations, hemophagocytic lymphohistiocytosis (HLH) generally develops in GS type 2, and GS type 3 primarily exhibits oculocutaneous albinism. HLH, a life-threatening condition with excessive immune activation, may occur secondary to various triggers, including infections, and develop in different tissues, as well as in the testis, similar to Erdheim-Chester disease.
View Article and Find Full Text PDFEnhancing newborn screening sensitivity and specificity for missed NICCD using selected amino acids and acylcarnitines.
Orphanet J Rare Dis
January 2025
Department of Genetics and Metabolism, Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Child Health, No. 3333 Binsheng Road, Binjiang District, Hangzhou, 310053, Zhejiang, China.
Purpose: To enhance the detection rate of Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency (NICCD) through newborn screening (NBS), we analyzed the metabolic profiles of missed patients and proposed a more reliable method for early diagnosis.
Methods: In this retrospective study, NICCD patients were classified into "Newborn Screening" (64 individuals) and "Missed Screening" (52 individuals) groups. Metabolic profiles were analyzed using the non-derivatized MS/MS Kit, and genetic mutations were identified via next-generation sequencing and confirmed by Sanger sequencing.
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