Hydrocephalus is a clinical condition that consists of an accumulation of cerebrospinal fluid around the brain; Dandy- Walker syndrome is a rare cause of it. We present the case of a newborn with prenatal diagnose of hydrocephalus due to a Dandy-Walker malformation, as well as ambiguous genitalia. After birth, diagnosis of Dandy-Walker malformation associated with uncommon extracranial manifestations is confirmed. Specifically, the baby presents interscrotal hypospadias and coronary sinus dilatation due to the persistence of the left superior vena cava. With the exposition of this case, we bring Malformación de Dandy-Walker asociada a malformaciones extracraneales en un neonato Dandy-Walker malformation associated with extracranial abnormalities in a newborn out the complexity of the Dandy-Walker syndrome due to the malformations associated with it; the ones that will determine the prognosis and the need of a multidisciplinary treatment.
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http://dx.doi.org/10.5546/aap.2021.e526 | DOI Listing |
Peptides
January 2025
Department of Pharmacy, Shaoxing Second Hospital, Shaoxing, 312000, China.
Hormone replacement therapy (HRT) for postmenopausal syndrome (PMS) carries high risks of undesirable side effects. This study explores irisin as a potential alternative to HRT and investigates the underlying mechanisms. Ovariectomized (OVX) female mice was used as an animal model.
View Article and Find Full Text PDFJ Affect Disord
January 2025
Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada. Electronic address:
Background And Objective: To determine whether there is disproportionate reporting of hepatobiliary disorders in the United States (US) FDA Adverse Event Reporting System (FAERS) for individuals prescribed ketamine or esketamine.
Design: We identified Medical Dictionary for Regulatory Activities (MedDRA) terms in the FAERS related to hepatobiliary disorders.
Main Measures: Formulations of ketamine and esketamine were evaluated for the proportionality of reporting for each hepatobiliary disorder parameter using the reporting odds ratio (ROR).
Elife
January 2025
Center for Medical Genetics Ghent, Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Heritable fragile bone disorders (FBDs), ranging from multifactorial to rare monogenic conditions, are characterized by an elevated fracture risk. Validating causative genes and understanding their mechanisms remain challenging. We assessed a semi-high throughput zebrafish screening platform for rapid in vivo functional testing of candidate FBD genes.
View Article and Find Full Text PDFJ Int Med Res
January 2025
Department of General Practice and Primary Health Care, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Objective: To evaluate whether there is an association between maternal mental health, purchase of psychotropic drugs, socioeconomic status and major congenital anomalies in offspring.
Methods: A register-based cohort study of 6189 Finnish primiparous women who had a singleton delivery between 2009 and 2015. Data on pregnancy and delivery outcomes, psychiatric diagnosis, prescription drug purchases and offspring congenital anomalies were obtained from Finnish national registers.
Sisli Etfal Hastan Tip Bul
December 2024
Division of Pediatric Endocrinology, Department of Pediatrics, University of Health Sciences Türkiye, Sisli Hamidiye Etfal Training and Research Hospital, Istanbul, Türkiye.
Chromosome 15q26 deletion is a rare condition that causes short stature and is associated with intrauterine growth restriction (IUGR), failure to thrive, congenital heart disease and many congenital malformations. The insulin growth factor receptor (IGF-1R) on chromosome 15 has many important roles, especially in growth regulation. Our case is an 18-month-old small for gestational age girl who presented with severe short stature, microcephaly and minor dysmorphic features.
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