Prevalence rate of Down's syndrome in one thousand women of Karachi were evaluated. The preliminary screening showed that 80 out of 1000 women fall in this category based on MSAFP. Further tests were augmented such as hCG, ME along with MSAFP confirmed that 0.2% patients delivered babies with Down's syndrome.
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Birth Defects Res
February 2025
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.
Background: Almost half of individuals born with Down syndrome (DS) have congenital heart defects (CHDs). Yet, little is known about the health and healthcare needs of adults with CHDs and DS. Therefore, we examined comorbidities and healthcare utilization of this population.
View Article and Find Full Text PDFAlzheimers Dement
January 2025
University of California Irvine, Irvine, California, USA.
Introduction: Aging adults with Down syndrome (DS) accumulate Alzheimer's disease (AD) neuropathology, including amyloid beta plaques and neurofibrillary tangles, by age 40.
Methods: We present findings from an individual with DS who remained cognitively stable despite AD neuropathology. Clinical assessments, fluid biomarkers, neuroimaging, and neuropathological examinations were conducted to characterize her condition.
Int Rev Res Dev Disabil
October 2024
Department of Human Development and Family Studies, Colorado State University, United States.
New insights regarding the early emergence of phenotypic patterns of strength and challenge in neurogenetic conditions afford the possibility of personalized, anticipatory intervention approaches. The development of novel 'syndrome-informed' interventions, however, should incorporate principles that will maximize the utility of intervention activities for as many children with a given neurogenetic condition as possible. This review examines several of these dimensions, including the use of community-engaged frameworks to ensure feasibility and acceptability of novel interventions; the development of cross-nationally valid approaches that can be readily translated into other languages and cultural contexts; and the use of adaptive interventions designs that allow for the tailoring of intervention pathways based on key child dimensions.
View Article and Find Full Text PDFInfect Drug Resist
January 2025
Department of Critical Care Medicine, The Sixth Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang Province, People's Republic of China.
Background: Rapid and accurate identification of causative organisms and prompt initiation of pathogen-targeted antibiotics are crucial for managing atypical pneumonia. The widespread application of targeted next-generation sequencing (t-NGS) in clinical practice demonstrates significant targeted advantages in rapid and accurate aetiological identification and antimicrobial resistance genes detection, particularly for difficult-to-culture, rare, or unexpected pathogens. An alarming surge of acquired macrolide resistance (MR) in (MP) presents a substantial challenge for the clinical selection of pathogen-targeted antibiotics worldwide, especially for fluoroquinolone-restricted pediatric patients with limited options available.
View Article and Find Full Text PDFInt J Clin Pediatr Dent
December 2024
Department of Pedodontics & Preventive Dentistry, Chettinad Dental College and Research Institute, Kelambakkam, Tamil Nadu, India.
Aims And Background: Fostering a positive dental attitude in children to enhance their oral health status and engaging them positively throughout their dental experience is the cornerstone of pediatric dentistry practices. The behavior of the child in a dental setting depends upon their emotional, psychological, and mental developmental state. Children with special health needs tend to have more anxiety than healthy children.
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