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Variability in Notification of Positive Newborn Screening Results for Sickle Cell Trait Across the United States.
Adv Hematol
December 2024
Division of Hematology, Department of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
Universal in the United States (US) since 2006, newborn screening (NBS) programs for sickle cell disease (SCD) allow for early identification of the disease and, as an unintentional byproduct, identification of sickle cell trait (SCT). Unlike other carrier states, SCT is highly prevalent and is found in nearly 3 million Americans, which results in important reproductive implications. Currently, all NBS programs in the US are responsible for their own policies regarding SCT notification, and little is known about how SCT notification practices are performed and how these practices vary across NBS programs.
View Article and Find Full Text PDFA clinical practical model for preoperative prediction of visual outcome for pituitary adenoma patients in a retrospective and prospective study.
Front Endocrinol (Lausanne)
December 2024
Department of Neurosurgery, Binhai Branch of Nation al Regional Medical Center, The First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian, China.
Objective: Preoperative prediction of visual recovery after pituitary adenoma resection surgery remains challenging. This study aimed to investigate the value of clinical and radiological features in preoperatively predicting visual outcomes after surgery.
Methods: Patients undergoing endoscopic transsphenoidal surgery (ETS) for pituitary adenoma were included in this retrospective and prospective study.
[Genetic analysis of children with nonsyndromic sensorineural hearing loss due to novel mutations/deletions of bialleles].
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
December 2024
Medical Genetics Center, Gansu Provincial Maternity and Child-care Hospital, Gansu Provincial Central Hospital, Lanzhou730050, China Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou730050, China.
To investigate the clinical and genetic characteristics of nonsyndromic sensorineural hearing loss caused by biallelic variation. A child with hearing impairment who was diagnosed at Gansu Provincial Maternal and Child Health Hospital on May 2022 and was selected as the research object. Peripheral blood of the child and her parents was collected, genomic DNA was extracted.
View Article and Find Full Text PDFNeurodevelopmental impairment in children with Robin sequence: A systematic review and meta-analysis.
Early Hum Dev
December 2024
Perth Children's Hospital, Perth, Western Australia, Australia; University of Western Australia, Perth, Western Australia, Australia. Electronic address:
Objective: To estimate the global prevalence of neurodevelopmental impairment in children with Robin sequence (RS) at one year or more of age.
Study Design: Electronic databases such as PubMed, Embase, CINAHL, APA PsycInfo, Emcare, MedNAR and Cochrane library were searched systematically from inception to 31st May 2024. Studies reporting on the neurodevelopmental (global, cognitive, or motor) outcomes in children with RS were included.
Antenatal detection of pediatric surgical congenital abnormalities and its effect on maternal anxiety: a multicentre prospective study in a middle-income country.
Pediatr Surg Int
December 2024
Division of Paediatric & Neonatal Surgery, Department of Surgery, Faculty of Medicine, University of Malaya, 50603, Kuala Lumpur, Malaysia.
Background: In middle-income countries, healthcare systems face unique challenges in ensuring timely antenatal detection of congenital abnormalities that require pediatric surgical intervention. Early detection can significantly improve outcomes, yet resource constraints often limit access to diagnostic technologies. This study evaluates the antenatal detection rate of congenital abnormalities referred to pediatric surgical services in three Malaysian tertiary centers and examines its effect on maternal anxiety.
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