Results 61 to 70 of about 2,424,824 (302)

Metabolomics of Human Amniotic Fluid and Maternal Plasma during Normal Pregnancy

PLoS ONE, 2016
Metabolic profiles of amniotic fluid and maternal blood are sources of valuable information about fetus development and can be potentially useful in diagnosis of pregnancy disorders.
M. Orczyk-Pawiłowicz, E. Jawień, S. Deja, L. Hirnle, A. Ząbek, P. Młynarz   +5 more
semanticscholar   +1 more source

Clinical Insights From a Case of Sifrim‐Hitz‐Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang, Shuangzhong Chen, Guanping Dong, Suhong Yang, Ping Wang, Qiong Zhou, Pingping Wang   +6 more
wiley   +1 more source

Correlation of amniotic fluid inflammatory markers with preterm birth: a meta-analysis

Journal of Obstetrics and Gynaecology
Background The relationship between amniotic fluid inflammatory biomarkers and preterm birth in second- or third-trimester pregnancy has been a focus, and understanding the correlation between these markers and preterm birth is important for early ...
Cong Wang, Qin Chen, Yan Wang
doaj   +1 more source

Genetic Abnormalities and Clinical Management of Fetal Genitourinary System Anomalies in Eastern China

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To investigate the correlation between genetic abnormalities and fetal genitourinary (GU) anomalies in Eastern China and to provide assistance for the clinical management of fetuses with different types of GU anomalies. Five hundred forty‐five fetuses with GU anomalies were enrolled, undergoing karyotyping, copy number variation sequencing ...
Jie Liang, Jiebin Wu, Lin Zhang, Yunmeng Qi, Yi Wang, Xu Cao, Jingfang Zhai   +6 more
wiley   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

EVALUATION OF FETOMATERNAL OUTCOMES USING AMNIOTIC FLUID INDEX AND SINGLE DEEPEST VERTICAL POCKET FOR AMNIOTIC FLUID VOLUME ASSESSMENT

Pakistan Armed Forces Medical Journal, 2020
Objective: To compare fetomaternal outcomes using amniotic fluid index and single deep vertical pocket for estimating amniotic fluid volume among pregnant women. Study Design: Comparative prospective study.
Mariyam Haroon, Abeera Choudry, Madiha Ahmed, Mahwish Gul, Anam Altaf   +4 more
doaj   +2 more sources

Clinical chorioamnionitis at term: the amniotic fluid fatty acyl lipidome[S]

Journal of Lipid Research, 2016
Clinical chorioamnionitis at term (TCC) is the most common obstetrical infliction diagnosed in labor and delivery units worldwide and is associated with a substantial increase in maternal and neonatal morbidity and mortality.
K. Maddipati, R. Romero, T. Chaiworapongsa, P. Chaemsaithong, Senlin Zhou, Zhonghui Xu, A. Tarca, J. Kusanovic, R. Gomez, N. Docheva, K. Honn   +10 more
semanticscholar   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

Amniotic fluid embolism

International Journal of Critical Illness and Injury Science, 2013
Amniotic fluid embolism (AFE) is an unpredictable and as-of-yet unpreventable complication of maternity. With its low incidence it is unlikely that any given practitioner will be confronted with a case of AFE. However, this rare occurrence carries a high probability of serious sequelae including cardiac arrest, ARDS, coagulopathy with massive ...
Thongrong, Cattleya, Kasemsiri, Pornthep, Hofmann, James P., Bergese, Sergio D., Papadimos, Thomas J., Gracias, Vicente H., Adolph, Michael D., Stawicki, Stanislaw P. A.   +7 more
openaire   +3 more sources

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source