Objective: To explore the chromosome karyotypes in children with mental retardation.
Methods: The peripheral blood lymphocytes from 92 children with congenital mental retardation were cultured and analysed by the G-band technique.
Results: Of the 92 cases, 43 cases (47%) showed chromosome abnormalities. Autosomal abnormalities were found in 35 cases (38%) and sex chromosome abnormalities were found in 8 cases (9%). A novel abnormal karyotype 45, XX, psu dic (11;9) (p15;p24) was found in a child.
Conclusions: Chromosome abnormalities may be important cytogenetic factors for congenital mental retardation. Cytogenetic chromosome karyotypic analysis appears to be an important method for genetic screening of congenital mental retardation.
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Discov Med
December 2024
Department of Biological Hematology, Tours University Hospital, 37000 Tours, France.
Aldehyde dehydrogenases (ALDHs) constitute a group of enzymes that catalyze the oxidation of aldehydes to carboxylic acids. The human ALDH superfamily, including 19 different isoenzymes (ALDH1A1, ALDH1A2, ALDH1A3, AHDH1B1, ALDH1L1, ALDH1L2, ALDH2, ALDH3A1, ALDH3A2, ALDH3B1, ALDH3B2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDH8A1, ALDH9A1, ALDHA16A1, ALDH18A1), displays different key physiological and toxicological functions, with specific tissue expression and substrate specificity. Several studies have established that ALDH are interesting markers for the identification and quantification of human hematopoietic stem cells and cancer stem cells, notably leukemic stem cells.
View Article and Find Full Text PDFInt J Cardiol Congenit Heart Dis
December 2024
Knight Cardiovascular Institute, Oregon Health and Science University, Portland, OR, USA.
Introduction: Adults with congenital heart disease (CHD) represent a heterogeneous and growing population with high healthcare utilization. We sought to understand the association between insurance type, healthcare use, and outcomes among adults with CHD in Oregon.
Methods: The Oregon All Payers All Claims database from 2010 to 2017 was queried for adults aged 18-65 in 2014 with ICD-9 or 10 codes consistent with CHD; patient demographics, comorbidities, healthcare use, and disease severity were identified.
Int J Cardiol Congenit Heart Dis
September 2024
Department of Cardiology, Erasmus MC, Rotterdam, the Netherlands.
Background: Sports are associated with numerous physiological and psychological benefits. However, it is unclear to what extent adults with congenital heart disease(CHD) participate in sports and whether this is safe. Furthermore, little is known about lifestyle habits in this group.
View Article and Find Full Text PDFCardiol J
December 2024
Department of Cardiology, Congenital Heart Diseases and Electrotherapy, Faculty of Medical Sciences in Zabrze, Medical University of Silesia, Katowice, Poland.
Background: The aim of this study was to assess the incidence and clinical significance of depression in patients with cardiac resynchronization therapy with an implantable cardioverter-defibrillator (CRT-D). The study was also to evaluate the impact of shock therapy on depression development and long-term prognosis.
Methods: The prospective study encompassed 396 consecutive heart failure (HF) patients implanted with CRT-D.
BMC Oral Health
December 2024
Fazaia Ruth Pfau Medical College, Karachi, Pakistan.
Background: Cleft lip and/or palate (CLP) is the most common orofacial congenital disability, presenting significant medical, psychological, and social challenges. In Pakistan, the incidence of CLP is high, estimated at one in 523 live births, but accurate data are lacking due to the absence of a birth registry. Early diagnosis and intervention are crucial for improving outcomes.
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