Results 31 to 40 of about 25,933 (196)

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Paediatric development of radiopharmaceutical imaging agents and radioligand therapeutics

British Journal of Clinical Pharmacology, EarlyView.
Abstract This review focuses on the development of radiopharmaceutical imaging agents and radioligand therapeutics for paediatric use. Nuclear medicine plays an important role in the diagnosis and treatment of various childhood conditions, including cancers, infections and brain disorders.
Justin L. Hay, Amandine Manon, Hunter Stephens, S. Y. Amy Cheung, Bart de Keizer, Erik T. te Beek   +5 more
wiley   +1 more source

Identification of major congenital malformations based on healthcare databases in France: A proof‐of‐concept study using the epi‐meres nationwide mother–child register

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Besides registries, healthcare databases can provide useful information for assessing the frequency of major congenital malformations (MCMs) and investigating their risk factors, particularly medication exposures. This study aimed to assess the validity of MCMs identification based on French national, comprehensive healthcare databases ...
Tom Duchemin, Lise Marty, Jérôme Drouin, Sara Miranda, Jérémie Botton, Valérie Olié, Alain Weill, Rosemary Dray‐Spira   +7 more
wiley   +1 more source

54. Radiofrequency perforation of pulmonary valve and PDA stenting in a preterm neonate

Journal of the Saudi Heart Association, 2016
Transcatheter radiofrequency perforation of the pulmonary valve and PDA stenting is considered as a modality for pulmonary atresia and intact ventricular septum with mildly hypoplastic tripartate right ventricle.
D. Khaymaf, K. Al Dhahri, V. Arulselvam
doaj   +1 more source

Pulmonary atresia in prenatal life

Journal of the American College of Cardiology, 1986
Seven cases of pulmonary atresia with intact ventricular septum were detected in prenatal life. In two of these cases, there was a small hypertrophied right ventricle of the type commonly seen postnatally. In the remaining five cases, the right atrium and right ventricle were grossly dilated to a degree that caused lung compression.
Allan, Lindsey D., Crawford, Diane C., Tynan, Michael J.   +2 more
openaire   +2 more sources

On Congenital Atresia of the Pulmonary Artery [PDF]

The American Journal of the Medical Sciences, 1880
n ...
openaire   +2 more sources

Congenital bronchial atresia: a case report [PDF]

Folia Medica
We present the case of a 12-year-old boy with congenital bronchial atresia exacerbated by recurrent pulmonary infections. Born prematurely at seven months, the patient experienced recurring respiratory symptoms and persistent chest pain.
Kostadin Ketev, Ivanka Karavelikova, Daniela Milanova-Ilieva   +2 more
doaj   +3 more sources

Evaluation of a novel fetal echocardiography training programme in two tertiary care obstetric Centres

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objectives Improving and maintaining high detection rates for major congenital heart disease (CHD) is a priority for successful prenatal anatomy screening programmes. The primary objective of this study was to evaluate the utility of on‐site multidimensional targeted training in fetal cardiac screening. Methods A prospective study evaluating a
Fiona Cody, Orla Franklin, Caoimhe Lynch, Zara Molphy, Patrick Dicker, Fergal Malone, Fionnuala M. Breathnach   +6 more
wiley   +1 more source

CLOSING OF INTERVENTRICULAR SEPTUM DEFECT IN ONE-STEP AND STEPWISE SURGICAL TREATMENT IN PATIENTS WITH PULMONARY ATRESIA AND AORTO-PULMONARY COLLATERALS

Вестник хирургии имени И.И. Грекова, 2015
Pulmonary atresia with defect of interventricular septum and collateral pulmonary blood flow refers to complicated congenital malformation of the heart. Surgical treatment represents itself as very difficult task because of anatomical variability of this
A. A. Morozov, R. R. Movsesyan, V. G. Lyubomudrov   +2 more
doaj   +1 more source

Microbiome and aging: Trajectories of microbiome age across human ecosystems and their systemic effects

iMeta, EarlyView.
Microbiome age (MA) has emerged as an innovative biomarker of biological aging, reflecting host aging trajectories through dynamic alterations in microbial composition, function, and host–microbe interactions across multiple body ecosystems. Diverse computational strategies—including traditional machine learning, deep learning, and multi‐omics ...
Zhexin Ni, Jiaojiao Xie, Zhichun Zhang, Keming Zhang, Jie Ding, Mingyang Chang, Ying Su, Yunan Zhang, Mingfei Yao, Chengyuan Wang, Yan Yan, Wenjie Fang, Hainv Gao, Xuecong Tian, Yangshuo Li, Xinlin Zhu, Wen Zhang, Wanqing Liao, Gaoyuan Xu, Guojing Chen, Xiaoyi Lv, Chaoqin Yu, Weihua Pan, Vadim Molodtsov, Lanjuan Li, Yue Gao, Wei Zhou   +26 more
wiley   +1 more source