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Pioneering robotic-assisted Davydov vaginoplasty for Mayer-Rokitansky-Küster-Hauser syndrome.
BMJ Case Rep
January 2025
Obstetrics and Gynaecology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder marked by the congenital absence of the uterus and vagina. Patients with this condition often present with primary amenorrhoea and normal secondary sexual characteristics. The diagnosis of MRKH syndrome has profound implications for a patient's fertility and psychological well-being, necessitating a multidisciplinary approach that includes psychosocial support.
View Article and Find Full Text PDFPrenatal Diagnosis of Berry Syndrome by Fetal Echocardiography.
Ultrasound Q
March 2025
Department of Echocardiography, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, Anhui, 230001, China.
Berry syndrome is a rare combination of cardiac malformations, which is characterized by the following malformations, including the aortopulmonary window, aortic right pulmonary origin, interrupted aortic arch or hypoplastic aortic arch or coarctation of the aorta, and an intact ventricular septum. There are few reviews on prenatal diagnosis of Berry syndrome by fetal echocardiography. We used sequential cross-sectional scanning from apex to bottom of the heart to find aortic right pulmonary origin, aortopulmonary window, and hypoplastic aortic arch.
View Article and Find Full Text PDFThe association of congenital diaphragmatic hernia with scoliosis.
Spine Deform
January 2025
Great North Children's Hospital, Newcastle Upon Tyne, UK.
Purpose: To determine the prevalence of scoliosis in patients who have undergone surgical repair of CDH and attempt to assess the aetiology of scoliosis in affected cases.
Methods: A prospectively collected database of patients with CDH treated in a single centre between 1997 and 2023 was reviewed. Cases with adequate records who continued to reside locally having survived beyond age 2 and > 2 years following CDH repair were included.
Perception of Quality of Life by Primary Caregivers of Children with Congenital Zika Syndrome: a Cross-Sectional Study.
Matern Child Health J
January 2025
Department of Pediatric Dentistry, University of Texas Health Science Center at Houston, School of Dentistry, 7500 Cambridge St. | Suite 5306, Houston, TX, 77054, USA.
Objective: The study aimed to evaluate the quality of life (QoL) of caregivers of children diagnosed with CZS and to assess the association of findings with socioeconomic and CZS-associated variables.
Methods: This was a cross-sectional, quantitative study, carried out over three days of multidisciplinary care for patients with CZS. Sixty-four participants underwent a quality of life assessment using the World Health Organization Quality of Life questionnaire (WHOQOL-BREF) in Portuguese.
Suspected Transient Ischemic Attack Related to Dysfunctional Quadricuspid Aortic Valve.
J Investig Med High Impact Case Rep
January 2025
The University of the West Indies, St. Augustine, Trinidad and Tobago.
We describe a 30-year-old Caribbean-Black woman with a clinical presentation suggestive of a transient ischemic attack (TIA) with no conventional cerebrovascular risk factors, albeit with a newly diagnosed quadricuspid aortic valve (QAV) with moderate aortic regurgitation (AR). Although QAV is a recognized congenital cardiac defect, its association with TIA remains elusive. This case highlights the importance of considering potential atypical etiologies, such as QAV, in the evaluation and management of young patients presenting with cerebrovascular events.
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