Results 121 to 130 of about 76,540 (309)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline +3 more
wiley +1 more source
Optimal chest compression technique for paediatric cardiac arrest victims [PDF]
, 2015 Min Joung Kim +3 more
openalex +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 +7 more
wiley +1 more source
Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera +15 more
wiley +1 more source
Comparative Hemodynamic Evaluation of the LUCAS® Device and Manual Chest Compression in Patients with Out-of-Hospital Cardiac Arrest [PDF]
, 2017 Sébastien Mirek +5 more
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij +5 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.A modified approach was developed to accurately identify the isovolumetric relaxation time (IVRT) using an apical three‐chamber view. Compared with conventional echocardiography, isovolumic relaxation strain imaging (IVSI) helps to detect the earlier alternations of diastolic function in transverse aortic constriction (TAC) mice.
Jingjing Liang +3 more
wiley +1 more source
Evaluation of a novel device that maintains the balance of a cardiopulmonary resuscitation performer in a moving ambulance to improve chest compression quality [PDF]
, 2013 SY Feng, YQ Song, YL Zhang, Yong Li
openalex +1 more source
Efficacy of Chest Compressions Performed on Patients in Dental Chairs Versus on the Floor
, 2021 Yoshitaka Shimizu +7 more
openalex +2 more sources