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The "Arrow Factor" in Gluteoplasty and Brazilian Butt Lift.
Plast Reconstr Surg Glob Open
January 2025
From the Plastic Surgery Chair, Department of Surgical Sciences and Integrated Diagnostics (DISC), University of Genova, Italy.
The gluteal region has become a rising area of interest in plastic surgery in recent years, as reflected in body contouring surgery trends. In this study, the authors explain what the arrow effect consists of and how to highlight it during a Brazilian butt lift or a gluteal liposculpture: liposuction of the sacral triangle, fat grafting of the upper gluteal quadrants, liposuction of the dimples of Venus and of the midline superficially to the spinal column, and fat grafting of the erector spinae muscles.
View Article and Find Full Text PDFPhenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry.
Mol Autism
September 2024
Department of Biomedical Informatics, Harvard Medical School, Boston, MA, 02115, USA.
Article Synopsis
- Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder linked to deletions of the 22q13 region, particularly affecting the SHANK3 gene, leading to various developmental challenges like intellectual disabilities and autism.
- Researchers conducted a study using the PMS International Registry to analyze clinical and genetic data from 401 individuals to understand how the size of deletions affects their clinical features.
- Findings revealed that larger deletions were associated with more severe developmental delays and physical issues, while individuals with smaller deletions or specific SHANK3 variants tended to show better self-help and verbal skills along with various psychiatric diagnoses.
Meaning and Clinical Interest of Minor Malformations and Normal Variants in Neonatology.
Balkan J Med Genet
June 2024
Clinic for Children's Diseases, University Clinical Hospital Mostar, 88000 Mostar, Bosnia and Herzegovina.
Congenital malformations can be found in all organ systems of a newborn. Almost two-thirds of congenital malformations have an unknown cause. There are minor (mM) and major (MM) congenital malformations.
View Article and Find Full Text PDFFetal phenotype and diagnosis of autosomal dominant Robinow syndrome due to novel DVL1 variant.
Prenat Diagn
August 2024
Division of Medical Genetics, Stanford University Department of Pediatrics, Stanford, California, USA.
Due to abnormal prenatal ultrasound findings of femoral shortening and flattened facial profile, a G2P0 pregnant patient underwent an amniocentesis at 15 weeks of gestation for proband-only exome sequencing. Bioinformatic filtering for genes included on the laboratory's extended skeletal dysplasia panel identified a heterozygous, likely pathogenic, frameshift variant in DVL1 NM_001330311.2:c.
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