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http://dx.doi.org/10.1093/plphys/kiae412 | DOI Listing |
BMC Pregnancy Childbirth
December 2024
Department of Obstetrics, School of Medicine, Chengdu Women's and Children's Central Hospital, University of Electronic Science and Technology of China, Chengdu, China.
Background: Prenatal whole exome sequencing (WES) is becoming an increasingly used diagnostic tool for fetuses with structural anomalies. However, the identification of variants of uncertain significance (VUS) in clinically relevant genes can significantly complicate prenatal diagnosis and genetic counseling.
Case Presentation: A fetus conceived through in vitro fertilization at the third attempt presented with polydactyly and molar tooth sign at 24 + 6 weeks of gestation.
Pediatr Res
December 2024
Department of Neurological Surgery, Ohio State University Medical Center, Columbus, OH, USA.
Background: Post-hemorrhagic hydrocephalus (PHH) is a severe complication in premature infants following intraventricular hemorrhage (IVH). It is characterized by abnormal cerebrospinal fluid (CSF) accumulation, disrupted CSF dynamics, and elevated intracranial pressure (ICP), leading to significant neurological impairments.
Objective: This review provides an overview of recent molecular insights into the pathophysiology of PHH and evaluates emerging therapeutic approaches aimed at addressing its underlying mechanisms.
Eur J Hum Genet
December 2024
Aix-Marseille Univ-INSERM, Marseille Medical Genetics, Marseille, France.
The molecular diagnosis of type 1 facioscapulohumeral muscular dystrophy (FSHD1) relies on the detection of a shortened D4Z4 array at the 4q35 locus. Until recently, the diagnosis of FSHD2 relied solely on the absence of a shortened D4Z4 allele in clinically affected patients. It is now established that most FSHD2 cases carry a heterozygous variant in the SMCHD1 gene.
View Article and Find Full Text PDFPlant Dis
December 2024
Northwest A&F University, College of Plant Protection and State Key Laboratory of Crop Stress Biology for Arid Areas, Yangling, Shaanxi, China;
Cereal cyst nematodes spp., are important pathogens of wheat (Toumi et al. 2018).
View Article and Find Full Text PDFVet J
December 2024
Department of Veterinary Medicine, College of Animal Science, Guizhou University, Guiyang, China. Electronic address:
Bovine viral diarrhea virus (BVDV) is a significant pathogen that exerts substantial economic influence on the global cattle industry. Developing a safe and effective novel vaccine targeting various BVDV subtypes is critical for controlling BVDV infection. In the study, we created two distinct multi-epitope vaccines by linking highly conserved and dominant cytotoxic T-lymphocytes (CTL), helper T-lymphocytes (HTL), and B-cell epitopes from either the E0 or E2 envelope glycoprotein of diverse BVDV subtypes.
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