Results 111 to 120 of about 146,711 (318)

Prenatal-Diagnosis of Hb H Disease Due to Compound Heterozygosity for South-East Asian Deletion and Hb Constant Spring by Polymerase Chain- Reaction

, 2008
A pregnant woman has two children affected by moderately severe Hb H disease due to compound heterozygosity of South- east Asian deletion and Constant Spring mutation.
柯滄銘;曾麗慧;謝豐舟;李鎡堯, KO, TSANG-MING;TSENG, LI-HUI;HSIEH, FON-JOU;LEE, TZU-YAO   +1 more
core  

First-trimester diagnosis of hydrolethalus syndrome in a Chinese family

, 2004
We report a case resembling hydrolethalus syndrome in a Chinese family. Fetal polydactyly, syndactyly, encephalocele and cardiac malformation were detected on ultrasound examination at 12 weeks' gestation.
Shek, TWH, Chan, BCP, Lee, CP
core   +1 more source

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source

Characteristics and long‐term outcomes of children with confirmed focal cortical dysplasia type 1 after epilepsy surgery: A population‐based study

Epilepsia Open, EarlyView.
Abstract Objective Focal cortical dysplasia type 1 (FCD1) is a rare and heterogeneous cause of drug‐resistant epilepsy (DRE) in children. Its clinical characteristics remain poorly understood, and surgical outcomes may be less favorable than in FCD2. We conducted a population‐based study to characterize the clinical presentation and long‐term seizure ...
Vincent Zheng, Päivi Koroknay‐Pál, Henri Lehtinen, Eija Gaily, Atte Karppinen, Anders Paetau, Olli Tynninen, Heta Leinonen, Aki Laakso, Eeva‐Liisa Metsähonkala   +9 more
wiley   +1 more source

Diagnostic value of karyotyping, CMA/CNV-seq, and WES in fetuses with thickened nuchal translucency: perinatal and two-year follow-up outcomes

BMC Medical Genomics
Background This study aimed to analyze the perinatal and pediatric outcomes of fetuses with thickened nuchal translucency (NT ≥ 2.5 mm) to enhance prenatal diagnostic strategies.
Mohan Wang, Yizhen Ji, Yasong Xu, Shiyu Sun, Xiaomei Yang, Li Sun, Qichang Wu   +6 more
doaj   +1 more source

Prenatal Exome Sequencing Identifies Dual Maternal‐Fetal Diagnosis of HbF Mission Bay, a Novel HBG2 Variant Associated With Methemoglobinemia, Hypoxia and Hemolytic Anemia

Prenatal exome sequencing (ES) can establish rare genetic diagnoses in a fetus but may also lead to occult genetic diagnosis in a biological parent. We present a case of dual fetal and maternal diagnosis by prenatal ES, in a fetus with unexplained anemia
Shear, Matthew A., Devine, W. Patrick, Lal, Ashutosh, Sparks, Teresa N., Hodoglugil, Ugur, Gonzalez, Juan, Lianoglou, Billie   +6 more
core   +1 more source

Next‐Generation Surgery: Integrating Artificial Intelligence, Genetic Technologies, Bioengineering and Rehabilitation Into Modern Practices

Exploration, EarlyView.
This graphic abstract depicts the convergence of artificial intelligence, genetic technologies, bioengineering, and rehabilitation as the core pillars of next‐generation surgery. These domains collectively enhance preoperative planning, intraoperative precision, tissue reconstruction, and postoperative recovery, driving a paradigm shift toward ...
Dengxiong Li, Jie Wang, Zhipeng Wang, Ruicheng Wu, Zhouting Tuo, Fanglin Shao, Wenjing Ge, Ziyu Shu, Yubo Yang, Dilinaer Wusiman, Qingxin Yu, Luxia Ye, Alisha Pati‐Alam, Facai Zhang, Koo Han Yoo, Susan Heavey, William C. Cho, Dechao Feng   +17 more
wiley   +1 more source

Impact of ejaculation frequency on semen parameters and DNA fragmentation: a cross-sectional study

Reproductive Biology and Endocrinology
Background Abnormal sperm quality, particularly high sperm DNA fragmentation levels, is associated with infertility and a higher risk of pregnancy loss. While short abstinence periods may improve semen quality, the specific role of ejaculation frequency (
Qi Xi, Qingkuo Kong, Xin Lv, Rulin Dai, Yang Yu   +4 more
doaj   +1 more source

Fetal lung lesions diagnosis: the crucial role of ultrasonography [PDF]

, 2009
Fetal lung lesions may cause significant effects of mass and may evolve into a non-immune hydrops and lead to the death of the fetus or the child. Treatment options for these severely affected infants are constantly evolving.
Maiello, Monica, Dinatale, Angela, Palermo, Mariarosaria, Carrara, Sabina, Esposito, Nunzia, Pedata, Rosa, Cavaliere, Alessandra, Ermito, Santina   +7 more
core  

SVseq discloses the genomic complexity of different prenatal, de novo, apparently balanced chromosome rearrangements detected by CMA and karyotype

Italian Journal of Pediatrics
Background Balanced chromosomal rearrangements (BCRs) are common structural variations (SVs), but only a small number of individuals with BCRs exhibit abnormalities. To better understand the different phenotypes in children diagnosed with BCRs during the
Shengfang Qin, Xueyan Wang, Chun Chen, Jin Wang, Zhuo Zhang, Yan Yin, Xiangyou Leng   +6 more
doaj   +1 more source