Infants with Down's syndrome are delayed in achieving motor milestones. When they first sit unsupported a discrepancy between visual and mechanical-vestibular indices of postural stability is less disruptive of their balance than in normal infants. Yet when they first stand unsupported, the same discrepancy disrupts balance more in these infants than in the normal infants. The effect of discrepant visual feedback also differs systematically as a function of the infants' experience of the posture. Monitoring posture in relation to a stable visual surround appears to be fundamental to the normal development of motor control.
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http://dx.doi.org/10.1068/p070513 | DOI Listing |
Early 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.
View Article and Find Full Text PDFWorld J Surg Oncol
January 2025
Department of Colorectal Surgery, Dingli Clinical College, Wenzhou Medical University (Wenzhou Central Hospital), 252 Baili East Road, Wenzhou, Zhejiang Province, 32500, China.
Background: An association between testicular cancer and Down syndrome has been reported by several studies. Down syndrome with cryptorchidism and retroperitoneal mixed germ cell tumours is rare, and yolk sac tumours are often considered secondary components of mixed germ cell tumours. Herein, we present a rare case of retroperitoneal mixed germ cell tumour with cryptorchidism accompanied by yolk sac tumour and seminoma in a patient with Down syndrome, along with its imaging features.
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