Results 41 to 50 of about 257,105 (351)

Non‐Invasive Diagnosis of Hypertrophic Cardiomyopathy by Breath

Advanced Sensor Research, EarlyView.
The use of sensor technologies for the diagnosis of hypertrophic cardiomyopathy (HCM) by identification of volatile organic compounds (VOCs) in breath samples. By combining gas chromatography‐mass spectrometry (GC‐MS) and electronic nose (eNose) platforms, specific VOC patterns associated with HCM are detected and analyzed.
Yael Hershkovitz‐Pollak, Manhal Habib, Yoav Y. Broza, Olga Katz, Harry Rakowski, Hossam Haick   +5 more
wiley   +1 more source

Single Administration of AAV‐mAtp6v1b2 Gene Therapy Rescues Hearing and Vestibular Disorders Caused by Atp6v1b2‐Induced Lysosomal Dysfunction in Hair Cells

Advanced Science, EarlyView.
Wei et al. establish a hair cell‐specific conditional knockout mouse model (Atp6v1b2fl/fl;Atoh1Cre/+), and demonstrate the importance of Atp6v1b2 for hair cell through maintaining the survival of lysosomes. A single administration of AAV‐ie‐Eh3‐mAtp6v1b2 through scala media at P0‐P2 realizes function compensation and restores hearing and balance ...
Gege Wei, Shiwei Qiu, Xue Gao, Lu Zheng, Yijin Chen, Ying Ma, Haifeng Feng, Jinyuan Yang, Guojie Dong, Huiyi Nie, Weihao Zhao, Xiaoge Li, Guangqin Wang, Wei Xiong, Pu Dai, Yongyi Yuan   +15 more
wiley   +1 more source

Congenital Heart Disease among Down Syndrome Children at Dr. Hasan Sadikin General Hospital from 2008 to 2013

Althea Medical Journal, 2018
Background: Children with Down syndrome are more prone to congenital heart disease due to the consequences of trisomy chromosomal 21 on gene expression. The aim of this study was to determine the pattern of congenital heart disease in children with Down ...
Thyviyaa Rajamany, Rahmat Budi Kuswiyanto, Leonardo Lubis   +2 more
doaj   +1 more source

Congenital pseudoarthrosis of the clavicle co-existing with tetralogy of Fallot: Another variant of the Holt-Oram syndrome?

Ibom Medical Journal, 2023
Congenital pseudoarthrosis of the clavicle is a rare condition characterized by a defect in the clavicle. Upper limb anomalies have been documented to occur in association with congenital heart malformations.
Essien UE, Dim EM, Nottidge TE, Ubaha AG, Inyang UC   +4 more
doaj   +1 more source

Trends in Mortality of Congenital Heart Defects

Congenital Heart Disease, 2015
The aim of the present nationwide cohort study was to describe trends in 1-year mortality in live-born children with congenital heart defects in Norway 1994-2009 and to assess whether changes in the proportion of terminated pregnancies and altered operative mortality have influenced these trends.Medical information concerning all 954 413 live births ...
Nina Øyen, Nina Øyen, Tatiana Fomina, Jarle Jortveit, Grethe S. Tell, Grethe S. Tell, Stein Emil Vollset, Stein Emil Vollset, Henrik Holmstrøm, Henrik Holmstrøm, Sigurd Birkeland, Gaute Døhlen, Elisabeth Leirgul, Leif Eskedal   +13 more
openaire   +3 more sources

Post‐Translational Modifications in Cilia and Ciliopathies

Advanced Science, EarlyView.
This review synthesizes current understanding of post‐translational modifications (PTMs) in ciliary proteins and emphasizes their roles in ciliary formation, homeostasis, and signaling. This review also discusses the implication of PTM dysregulation in ciliopathies and explores therapeutic strategies targeting PTM‐modifying enzymes.
Jie Ran, Jun Zhou
wiley   +1 more source

Frequency and Diversity of Congenital Heart Disease in Children in Northern Iran [PDF]

Journal of Clinical and Basic Research, 2022
Background and objectives: One of the leading causes of neonatal death is congenital abnormalities. The most prevalent congenital condition in the world is congenital heart disease (CHD), which affects around one-quarter of all live newborns.
Mohsen Ebrahimi, Hassan Esmaeili
doaj  

Epidemiological characteristics of congenital heart disease in infants from 2009 to 2018 in Chongming District， Shanghai

Shanghai yufang yixue, 2022
ObjectiveTo describe the incidence and distribution characteristics of congenital heart disease in newborns， and to analyze the trend of the notification rate from 2009 to 2018 in Chongming District， Shanghai.MethodsBased on the shanghai birth defects ...
SUN Yulan, CHE Beibei, HE Liyun, QIN Hui, LI Wenxian, LI Bingying, XU Biao, ZHU Liping   +7 more
doaj   +1 more source

Generation of Neural Organoids and Their Application in Disease Modeling and Regenerative Medicine

Advanced Science, EarlyView.
Neural organoids provide a versatile platform for neurological research. Advances in organoid technology have partially achieved human neural tissue complexity in terms of tissue structure, cell diversity, and neural signaling, offering insights into neural disorders and regenerative strategies. Technology advances from biomaterials, bio‐manufacturing,
Ruiqi Huang, Feng Gao, Liqun Yu, Haokun Chen, Rongrong Zhu   +4 more
wiley   +1 more source

Severe pulmonary hypertension and reduced right ventricle systolic function associated with maternal mortality in pregnant uncorrected congenital heart diseases

Pulmonary Circulation, 2019
Background Pregnant uncorrected congenital heart disease patients, especially those who already developed pulmonary hypertension, have increased risk for maternal mortality.
Anggoro B. Hartopo, Dyah W. Anggrahini, Detty S. Nurdiati, Noriaki Emoto, Lucia K. Dinarti   +4 more
doaj   +1 more source