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| http://dx.doi.org/10.2337/ds16-0037 | DOI Listing |
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Evaluation of sleep disorders in children and adolescents affected by Klinefelter syndrome.
Eur J Pediatr
January 2025
Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.
Unlabelled: Klinefelter syndrome (KS) is the most common sex chromosomal aneuploidy in males (47,XXY karyotype in 80-90% of cases), primarily characterized by hypergonadotropic hypogonadism and infertility. It encompasses a broad phenotypic spectrum, leading to variability in neurocognitive and psychosocial outcomes among affected individuals. Despite the recognized correlation between KS and various neuropsychiatric conditions, studies investigating potential sleep disorders, particularly in pediatric subjects, are lacking.
View Article and Find Full Text PDFPrevalence and Risk Factors of Cognitive Impairment in COPD: A Systematic Review and Meta-Analysis.
Public Health Nurs
January 2025
Department of Gastrointestinal Surgery, Peking University Shenzhen Hospital, Shenzhen, China.
Aim: The aim of this systematic review is to present the pooled estimated prevalence and risk factors for cognitive impairment (CI) in patients with chronic obstructive pulmonary disease (COPD).
Background: Patients with COPD suffer from progressive and irreversible airflow limitation, resulting in continuous impairment of lung function, which in addition to causing lesions in the lungs, often accrues to other organs as well. In recent years, a growing number of cross-sectional and longitudinal studies have shown that hypoxia is an important factor in causing CI and that there is an important link between them, but the assessment of co-morbid neurocognitive impairment and dysfunction is often overlooked.
Denovo variants in POGZ and YY1 genes: The novel mega players for neurodevelopmental syndromes in two unrelated consanguineous families.
PLoS One
January 2025
Department of Psychiatry, Jacobs School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, NY, United States of America.
Novel denovo variants of exome sequences are major cause of pathogenic neurodevelopmental disorders with a dominant genetic mechanism that emphasize their heterogeneity and complex phenotypes. White Sutton syndrome and Gabriele-de-Vries syndrome are congenital neuro-impairments with overlap of severe intellectual disability, microcephaly, convulsions, seizures, delayed development, dysmorphism of faces, retinal diseases, movement disorders and autistic traits. POGZ gene codes for pogo transposable element-derived zinc-finger protein and YY1 gene regulates transcription, chromatin, and RNA-binding proteins that have been associated with White Sutton and Gabriele-de-Vries syndromes, in recent data.
View Article and Find Full Text PDFNeurocognitive Profile and Associated Factors Among Children Affected by Sickle Cell Disease in Kinshasa, Democratic Republic of Congo: A Cross-Sectional Study.
Children (Basel)
December 2024
Centre for International Health (CIH), Faculty of Medicine, University of Bergen, 5020 Bergen, Norway.
Background/objectives: Understanding the neurocognitive profile of children with sickle cell disease in the Democratic Republic of Congo is essential, as this condition can significantly affect their development. Our study aims to assess these children's neurocognitive and developmental profiles and identify related factors.
Methods: We conducted a descriptive cross-sectional study involving 287 children, aged 0 to 68 months, using the Mullen Scales of Early Learning and the Gensini Gavito Scale.
Diagnostic challenges of long COVID in children: a survey of pediatric health care providers' preferences and practices.
Front Pediatr
December 2024
Department of Pediatrics, Harvard Medical School, Boston, MA, United States.
Introduction: Given the challenges in diagnosing children with long COVID, we sought to explore diagnostic practices and preferences among clinicians.
Methods: A ten-question survey assessed pediatric providers' clinical decision making for identifying and evaluating long COVID in children. Of the 120 survey respondents, 84 (70%) were physicians, 31 (26%) nurse practitioners, and 5 (4%) physician assistants.
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