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Infantile Hemangioma With Aggressive, Early-Onset Ulceration, and Kasabach-Merritt-Like Phenomenon in a Newborn.
Pediatr Dermatol
December 2024
Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Infantile hemangiomas (IH) are the most common benign tumors of infancy and progress through recognized stages of evolution including early proliferation, plateau, and involution. Ulceration is a common complication of IHs typically observed during the early proliferative stage characterized by rapid growth. In rare cases, ulceration is the primary clinical manifestation of IHs.
View Article and Find Full Text PDFTrends of early-onset colorectal cancer in Singapore: an epidemiological study of a multi-ethnic population.
JMIR Public Health Surveill
December 2024
Division of Clinical Trials and Epidemiological Sciences, National Cancer Centre, Singapore, SG.
Background: Colorectal cancer (CRC) incidence and mortality in those aged 50 years and above have decreased over the last 2 decades. However, there is a rising incidence in CRC among individuals under 50 years of age, termed early-onset colorectal cancer (EOCRC). EOCRC patients are more advanced stage at diagnosis and may suffer more psychosocial, emotional and financial distress.
View Article and Find Full Text PDFClinical Characterization, Natural History, and Detailed Phenotyping of NMNAT1-Associated Leber Congenital Amaurosis.
Am J Ophthalmol
December 2024
Department of Anatomy and Cell Biology, Seoul National University College of Medicine, 103 Daehak-ro, Jongno-gu, Seoul, 03080, Republic of Korea. Electronic address:
Purpose: To characterize the clinical phenotype and disease progression in patients with NMNAT1-associated Leber congenital amaurosis (LCA) within the Korean population.
Design: Retrospective, observational case series.
Subjects: Fourteen patients with LCA with biallelic variants of NMNAT1 at a single tertiary referral center.
RORA-neurodevelopmental disorder: a unique triad of developmental disability, cerebellar anomalies, and myoclonic seizures.
Genet Med
December 2024
Genetics Department, Hospices Civils de Lyon, Lyon, France; Neuromyogene Institute, Pathology and Genetics of neuron and muscle, CNRS UMR 5261 INSERM U1315, University of Lyon - Université Claude Bernard Lyon 1, Lyon, France. Electronic address:
Article Synopsis
- RORA is a gene linked to the development and function of the cerebellum, and this study explores the largest group of individuals with RORA-related neurodevelopmental disorders (RORA-NDD).
- The study involved 40 participants with various pathogenic variants of RORA, revealing a range of clinical features including developmental and intellectual disabilities, as well as cerebellar symptoms that can vary in onset and severity.
- Findings indicate that certain missense variants are associated with more severe cerebellar issues, and common elements of RORA-NDD include developmental disabilities, cerebellar symptoms, and different types of myoclonic epilepsy.
Integrated use of Autosomal Dominant Polycystic Kidney Disease Prediction Tools and Risk Prognostication.
Clin J Am Soc Nephrol
December 2024
Department of Nephrology and Medical Intensive Care, Charité Universitätsmedizin Berlin, Germany.
Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic cause of kidney failure. Specific treatment is indicated upon observed or predicted rapid progression. For the latter, risk stratification tools have been developed independently based on either total kidney volume or genotyping as well as clinical variables.
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