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Expanding the phenotyping spectrum of Witteveen Kolk syndrome: first report of generalized dystonia and cerebellar ataxia.
Acta Neurol Belg
November 2024
Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
Witteveen-Kolk syndrome (WITKOS) is an autosomal dominant disorder characterized by distinct facial features, microcephaly, short stature, intellectual disability, and subtle neuroimaging abnormalities. The syndrome is attributed to a loss of function mutation in the SIN3A gene, a member of the switch-insensitive 3 transcription regulator family. Herein, we present a 21-year-old woman with dysmorphic facial features, short stature, and a chronic, progressively worsening symmetric cerebellar ataxia, along with generalized dystonia.
View Article and Find Full Text PDFSystematic Review of Obstetric and Child Outcomes of Prenatal Exposure to Inhalants in the Context of a Use Disorder.
J Addict Med
November 2024
From the University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC (ESK); Addiction Medical Services of Wisconsin, Onalaska, WI (CWS); Health Sciences Library, University of North Carolina at Chapel Hill, Chapel Hill, NC (JLC); and Horizons Division and Department of Obstetrics and Gynecology, University of North Carolina at Chapel Hill, Chapel Hill, NC, and Departments of Psychiatry and Behavioral Sciences and Obstetrics and Gynecology, School of Medicine, Johns Hopkins University, Baltimore, MD (HEJ).
Objectives: Inhalants are often used for their psychoactive effects, producing feelings of euphoria. Inhalant and solvent use is a serious public health concern, yet little is known about their effects on perinatal, fetal, and child outcomes. The aim of our review is to evaluate the impact of inhalant use by pregnant people on maternal, fetal, neonatal, and early childhood outcomes.
View Article and Find Full Text PDFA Rare Case of Neuronal Ceroid Lipofuscinosis-Type 1 (NCL-1) with Vitamin D-Dependent Rickets-Type 1 (VDDR-1), Complex 1 Mitochondrial Deficiency, and Mixed Variant-Checkerboard and Phylloid Type of Pigmentary Mosaicism.
J Pediatr Genet
December 2024
Centre for Human Genetics, Bengaluru, Karnataka, India.
Neuronal ceroid lipofuscinosis-type 1 (NCL-1) is a neurodegenerative lysosomal storage disorder. Vitamin D-dependent rickets type 1 (VDDR-1) is a rare cause of refractory rickets. Here, we report an unusual association of NCL-1 with VDDR-1.
View Article and Find Full Text PDFNeurophenotype and genetic analysis of children with Aicardi-Goutières syndrome in China.
Pediatr Investig
September 2024
Importance: Aicardi-Goutières syndrome (AGS) is a rare genetic disorder mainly affecting the central nervous system and autoimmunity. However, research on AGS among Chinese patients is limited.
Objective: To summarize the neurologic phenotypes and genetic causes in pediatric AGS patients, providing insights for early recognition and diagnosis in the Chinese population.
Systemic complications of Aicardi Goutières syndrome using real-world data.
Mol Genet Metab
October 2024
Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address:
Article Synopsis
- Aicardi Goutières Syndrome (AGS) is a rare genetic disorder characterized by a range of systemic health issues and delayed diagnosis, prompting researchers to analyze longitudinal data from medical records to better understand its burden.* -
- The study included 167 individuals with genetically confirmed AGS, compiling information on demographics, age of onset, and neurological complications; the most frequent genetic mutations associated with AGS were identified.* -
- Results revealed that gastrointestinal issues were the earliest systemic complications, while neurological symptoms such as tone abnormalities and irritability were prevalent, usually manifesting in infancy.*
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