Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/s0002-9378(16)35361-3 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
[Prenatal diagnosis and genetic counseling of 20 fetuses with 15q11.2 BP1-BP2 microdeletion syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
General Hospital of Ningxia Medical University, Yinchuan, Ningxia 750004, China.
Objective: To explore the clinical phenotype, pregnancy outcome and follow-up of fetuses with 15q11.2BP1-BP2 microdeletions in order to provide a basis for prenatal and reproductive consultation.
Methods: From March 2019 to December 2023, 20 fetuses who were diagnosed with 15q11.
Potential benefits of intraoperative parathyroid autofluorescence imaging in a patient with multiple endocrine neoplasia type 1 and hyperparathyroidism - A case report.
Int J Surg Case Rep
December 2024
Department of Otorhinolaryngology, Aarhus University Hospital, Aarhus N, Denmark.
Introduction And Importance: Primary hyperparathyroidism (PHPT) is a frequent complication to multiple endocrine neoplasia type 1 (MEN1), presenting challenges due to increased risk of multi-gland disease and recurrence post parathyroidectomy (PTX). This case report examines the management of PHPT in a MEN1 patient, emphasizing possible benefits from intraoperative parathyroid autofluorescence imaging (AF).
Case Presentation: A 21-year-old woman with MEN1 presented with mild hyperparathyroidism symptoms in 2014.
A Case of Osteitis Fibrosa Cystica of the Mandible: A Rare Presentation during Pregnancy due to Mutation.
J ASEAN Fed Endocr Soc
December 2024
Topiwala National Medical College and Bai Yamunabai Laxman Nair Charitable Hospital, Mumbai, India.
Typically, primary hyperparathyroidism (PHPT) develops as a result of multiglandular hyperplasia, parathyroid cancer, or parathyroid adenoma. Patients usually present with skeletal manifestations such as low-trauma fractures. Osteitis fibrosa cystica (OFC) is a classic yet rare skeletal manifestation of advanced PHPT currently reported in less than 2% of patients.
View Article and Find Full Text PDFSLC25A1 regulates placental development to ensure embryonic heart morphogenesis.
Development
November 2024
MOE Key Laboratory of Model Animal for Disease Study, Model Animal Research Center State Key Laboratory of Pharmaceutical Biotechnology, Nanjing University Medical School, Nanjing 210093, China.
22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion syndrome.
View Article and Find Full Text PDFPrenatal diagnosis, ultrasound findings and pregnancy outcome of 7q11.23 deletion and duplication syndromes: what are the fetal features?
BMC Pregnancy Childbirth
November 2024
The Genetics Laboratory, Longgang District maternity & Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, Guangdong, China.
Article Synopsis
- The study aimed to analyze ultrasound findings, SNP-array results, and pregnancy outcomes in fetuses with 7q11.23 deletions and duplications during the second and third trimesters, gathering comprehensive data from a Chinese medical center over several years.
- Seven fetuses with 7q11.23 deletions and six with duplications were diagnosed, revealing significant clinical abnormalities such as intrauterine growth restriction and various cardiovascular issues; the deletions were associated with more serious ultrasound findings.
- Most pregnancies (seven deletions and three duplications) were terminated due to the severe abnormalities discovered, indicating a high risk linked to these genetic conditions.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!