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Septo-optic dysplasia plus: A case report for reviewing and recognizing this condition.
Biomedica
November 2024
Servicio de Hospitalización, Hospital Internacional de Colombia, Bucaramanga, Colombia.
Septo-optic dysplasia is a congenital neurological condition with multifactorial etiology, characterized by septum pellucidum agenesis and/or corpus callosum dysgenesis, hypoplasia of the chiasm or optic nerves, and hormonal dysfunction with pituitary or hypothalamic alterations. Diagnosis requires two of these criteria and magnetic resonance is the imaging test of choice. Most cases present with abnormalities of cortical development in the form known as septo-optic dysplasia plus.
View Article and Find Full Text PDFEarly stress exposure on zebrafish development: effects on survival, malformations and molecular alterations.
Fish Physiol Biochem
August 2024
Cell Biology Area, Molecular Biology Department, Universidad de León, Campus de Vegazana S/N, 24071, León, Spain.
The effects of stress during early vertebrate development can be especially harmful. Avoiding stressors in fish larvae is essential to ensure the health of adult fish and their reproductive performance and overall production. We examined the consequences of direct exposure to successive acute stressors during early development, including their effects on miR-29a and its targets, survival, hatching and malformation rates, larval behaviour and cartilage and eye development.
View Article and Find Full Text PDFDevelopmental and epileptic encephalopathy in a young Italian woman with a de novo missense variant in the CLCN4 gene: A case report.
Brain Dev
September 2023
Neuromotor & Rehabilitation Department, Neurology Unit, Azienda USL-IRCCS of Reggio Emilia, Reggio Emilia, Italy. Electronic address:
Introduction: Raynaud-Claes syndrome is a very rare X-linked condition, characterized by intellectual disability, impaired language development, brain abnormalities, facial dysmorphisms and drug-resistant epilepsy. It is caused by loss-of-function variants in the CLCN4 gene, which encodes the 2Cl-/H + exchanger ClC-4, prominently expressed in the hippocampus and cerebellum. Different genotypic variants have been described, each exhibiting specific phenotypic characteristics.
View Article and Find Full Text PDFHost-pathogen interactions mediated by extracellular vesicles in Toxoplasma gondii infection during pregnancy.
J Reprod Immunol
August 2023
Placenta Lab, Department of Obstetrics, Jena University Hospital, Jena, Germany. Electronic address:
Molecular communication between a pathogen and its host is crucial for a successful interplay. Extracellular vesicles (EVs) act as mediators for the delivery of molecular signals among pathogens or between pathogens and the host. Toxoplasma gondii (T.
View Article and Find Full Text PDFProfile and characteristics of the adequacy of blood transfusions in Trauma Intensive Care. A cross sectional multicenter study.
Front Public Health
April 2023
Blood and Tissue Bank of Navarra, Servicio Navarro de Salud-Osasunbidea, Pamplona, Spain.
Introduction: Major trauma is one of the major health care problems facing modern society, trauma systems require careful planning to achieve an ideal level of coverage for the population. The Patient Blood Management Program is an integrated and global strategy to provide patient care that aims to assess and address, when possible, the etiology of blood abnormalities rather than transfuse without treating the underlying cause. We aimed to describe the factors that are associated with the clinical decision to transfuse polytraumatized patients admitted to the Intensive Care Unit (ICU).
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