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http://dx.doi.org/10.1007/s10654-011-9602-5 | DOI Listing |
Mol Genet Genomic Med
February 2025
Department of Pediatric Neurology, Hospital Universitario Quirónsalud, Madrid, Spain.
Background: Biallelic pathogenic variants in the FUCA1 gene are associated with fucosidosis. This report describes a 4-year-old boy presenting with psychomotor regression, spasticity, and dystonic postures.
Methods And Results: Trio-based whole exome sequencing revealed two previously unreported loss-of-function variants in the FUCA1 gene.
Sensors (Basel)
January 2025
Curtin School of Allied Health, Curtin University, Perth 6102, Australia.
In hospitals, timely interventions can prevent avoidable clinical deterioration. Early recognition of deterioration is vital to stopping further decline. Measuring the way patients position themselves in bed and change their positions may signal when further assessment is necessary.
View Article and Find Full Text PDFChildren (Basel)
December 2024
Lenval University Children's Hospital, SUPEA (University Department of Child and Adolescent Psychiatry), Competence Center for Rare Diseases with Psychiatric Expression (CC MREP), Expert Center for Pediatric Psychotrauma (CE2P), 06200 Nice, France.
Background: The first year of life is the period of greatest brain plasticity. Postpartum depression can adversely affect the first interactions with the child and, consequently, their emotional, social, and cognitive development.
Objectives: First, to describe the developmental profile of six-month-old infants of mothers suffering from severe postpartum depression, and, second, to compare the development of infants whose mothers suffer from depression with or without bipolar disorder.
Theriogenology
January 2025
Department of Clinical Sciences, College of Veterinary Medicine, Qassim University, Saudi Arabia. Electronic address:
Pseudopregnancy is the development of signs of pregnancy in the absence of an embryo or fetus. The objectives of this study were to characterize pseudopregnancy in dromedary camels, determine its prevalence in camel farms and practice, identify associated risk factors, and describe its clinical and hormonal properties. The prevalence of pseudopregnancy on 100 camel farms with 4264 total female camels was determined to be 2.
View Article and Find Full Text PDFMedicine (Baltimore)
January 2025
Department of Orthopedics, China-Japan Union Hospital of Jilin University, Changchun, Jilin Province, PR China.
Rationale: Bilateral gluteus medius contractures in adults are rare in clinical practice, with only a few cases reported. These contractures may result from repeated intramuscular injections during childhood. Understanding the clinical manifestations, diagnostic process, treatment, and outcomes can provide insights into effective management strategies.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!