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'You've gotta be a man and be strong': Pakistani fathers' experiences of perinatal loss.
J Reprod Infant Psychol
January 2025
Maternal Mental Health Service, Birmingham and Solihull Mental Health Foundation Trust, Birmingham, UK.
Aims/background: Although women physically experience pregnancy, and grief might manifest differently, both mothers and fathers are affected similarly by perinatal loss. Research has predominately focused on Caucasian men, with the experiences of men from ethnic minority groups not researched. In the UK, the Pakistani community has one of the highest rates of perinatal loss, therefore this research aimed to explore the experiences of perinatal loss in Pakistani men.
View Article and Find Full Text PDFApplication of CRISPR/Cas9 technology in the modeling of Gaucher disorder.
Biochem Biophys Rep
December 2024
Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Gaucher disease (GD) is a metabolic disorder caused by mutations in the , located on 1q22. This gene encodes glucocerebrosidase (glucosylceramidase) enzyme. GD has a wide range of clinical manifestations from a perinatally lethal type to an asymptomatic form.
View Article and Find Full Text PDFVirulence and pathogenicity of group B : Virulence factors and their roles in perinatal infection.
Virulence
December 2025
Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, USA.
This review summarizes key virulence factors associated with group B (GBS), a significant pathogen particularly affecting pregnant women, fetuses, and infants. Beginning with an introduction to the historical transition of GBS from a zoonotic pathogen to a prominent cause of human infections, particularly in the perinatal period, the review describes major disease manifestations caused by GBS, including sepsis, meningitis, chorioamnionitis, pneumonia, and others, linking each to specific virulence mechanisms. A detailed exploration of the genetic basis for GBS pathogenicity follows, emphasizing the roles of capsules in pathogenesis and immune evasion.
View Article and Find Full Text PDFHeme oxygenase/carbon monoxide system affects the placenta and preeclampsia.
Med Gas Res
June 2025
Department of Surgery, Queen Elizabeth Central Hospital, Blantyre, Malawi.
Preeclampsia affects 2% to 8% of pregnancies worldwide and results in significantly high maternal and perinatal morbidity and mortality, with delivery being the only definitive treatment. It is not a single disorder, but rather a manifestation of an insult(s) to the uteroplacental unit -whether maternal, fetal, and/or placental. Multiple etiologies have been implicated, including uteroplacental ischemia, maternal infection and/or inflammation, maternal obesity, sleep disorders, hydatidiform mole, maternal intestinal dysbiosis, autoimmune disorders, fetal diseases, breakdown of maternal-fetal immune tolerance, placental aging, and endocrine disorders.
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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