Abnormalities in esophageal function were identified in seven children with Down's syndrome. Three had recurrent episodes of pneumonia from gastroesophageal reflux; two of these and one other patient had esophageal strictures. Two patients with Down's syndrome revealed no evidence of gastroesophageal reflux but did show significant abnormalities in esophageal peristalsis. These data would suggest that ambulatory children with Down's syndrome may be at risk of developing serious sequellae of gastroesophageal reflux. The spectrum of data of these seven patients is discussed, and pertinent prior reports from the literature are reviewed.
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http://dx.doi.org/10.1097/00005176-198201010-00017 | DOI Listing |
Free Radic Biol Med
January 2025
Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-CSIC-JA, Sevilla, Spain; CIBERER, U729, Instituto de Salud Carlos III, Madrid, Spain. Electronic address:
The interference of the expression of each of the genes involved in the synthesis of coenzyme Q (CoQ) in Drosophila melanogaster can help to understand the pathophysiology of CoQ-dependent mitochondrial diseases in humans. We have knocked-down all genes involved in the CoQ biosynthesis pathway at different temperatures to induce depletion of CoQ at different levels throughout the body and in a tissue-specific manner. The efficiency of the knockdowns was quantified by Q-RTPCR and determination of CoQ levels by HPLC-UV+ECD.
View Article and Find Full Text PDFEarly Hum Dev
January 2025
Department of Obstetrics and Gynecology, Faculty of Medicine, Gazi University, Ankara, Turkey.
Purpose: To evaluate the use of anogenital distance (AGD) and genital tubercle length (GTL) between 11 and 13 + 6 weeks of gestation for fetal sex determination and to assess the impact of maternal androgen levels on these measurements.
Methods: A cross-sectional study was conducted from February to June 2017 with patients undergoing first trimester Down syndrome screening. Inclusion criteria were: (1) female age 18-49, (2) gestational age between 11 and 13 + 6 weeks, (3) optimal visualization of AGD and GTL, and (4) nonsmoking status.
J Integr Neurosci
January 2025
Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, MA 02114, USA.
Objective: To study the use of a dementia screening tool in our clinic cohort of adults with Down syndrome.
Study Design: A retrospective chart review of patients with Down syndrome was conducted to follow the use of the Adaptive Behaviour Dementia Questionnaire (ABDQ) in a dementia screening protocol. The ABDQ results for patients aged 40 years and older at a Down syndrome specialty clinic program were assessed.
J Clin Med
January 2025
Department of Surgery IV, George Emil Palade University of Medicine, Pharmacy, Science and Technology of Targu Mures, 38 Gheorghe Marinescu Street, 540139 Targu Mures, Romania.
: Totally endoscopic techniques have become increasingly popular in cardiac surgery, with minimally invasive mitral valve repair emerging as an effective alternative to median sternotomy. This approach could be particularly advantageous for patients with Noonan syndrome, who often present with structural thoracic anomalies and other comorbidities like bleeding disorders. Endoscopic mitral valve surgery is rapidly establishing itself as the new standard of care for mitral valve operations, demonstrating both safety and efficacy.
View Article and Find Full Text PDFGenes (Basel)
January 2025
Fondazione IRCSS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milano, Italy.
Mendelian disorders of the epigenetic machinery (MDEMs) include a large number of conditions caused by defective activity of a member of the epigenetic machinery. MDEMs are characterized by multiple congenital abnormalities, intellectual disability and abnormal growth. that can be variably up- or down-regulated.
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