Results 91 to 100 of about 100,925 (284)

Prenatal Diagnosis of Joubert Syndrome 23 With Left Isomerism: A Novel Phenotype Associated With Pathogenic KIAA0586 Variant

open access: yesPrenatal Diagnosis, EarlyView.
Abstract Joubert syndrome is a rare autosomal recessive ciliopathy defined by the “molar tooth” sign caused by cerebellar vermis hypoplasia and abnormal superior cerebellar peduncles. Over 40 genes are known to cause the disorder, including KIAA0586, which encodes the centrosomal protein TALPID3, essential for ciliogenesis and Hedgehog signaling ...
Tamara Casteleyn   +6 more
wiley   +1 more source

The Incremental Yield of CMA Over Karyotype in Fetal Growth Restriction—A Systematic Review and Meta‐Analysis

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT The main objective of our study was to conduct a systematic literature review and a meta‐analysis to evaluate the incremental yield of chromosomal microarray analysis compared with karyotyping in cases of fetal growth restriction. Our review was designed according to the PRISMA guidelines.
Ioakeim Sapantzoglou   +8 more
wiley   +1 more source

The many faces of multivisceral transplantation [PDF]

open access: yes, 1991
The transplantation of multiple abdominal viscera, including liver-duodenum-pancreas, liver-stomach-duodenum-pancreas and liver-intestine, is being performed with increasing frequency and success.
Abu-Elmagd, K   +6 more
core  

Feasibility of superior vena cava isolation in patients with cardiac implantable electronic devices [PDF]

open access: gold, 2020
Shohei Kataoka   +6 more
openalex   +1 more source

Assessment of Double Outlet Left Ventricle in Pediatrics Using Transthoracic Echocardiography and Computed Tomographic Angiography

open access: yesPediatric Discovery, EarlyView.
The clinical manifestation of DOLV was atypical. TTE has a relatively high diagnostic accuracy for DOLV in pediatric, which is very valuable for its early detection. ABSTRACT Double outlet left ventricle (DOLV) is a rare congenital cardiac anomaly in which both great arteries originate entirely or predominantly from the morphologic left ventricle.
Xu Zhu   +6 more
wiley   +1 more source

Beware of venous anomalies in young patients with sick sinus syndrome: A report of two cases of sick sinus syndrome with systemic venous anomalies

open access: yesHeart Views, 2015
We report two young patients with symptomatic sick sinus syndrome admitted for permanent pacemaker implantation (PPI). On evaluation with echocardiography, one of them was found to have persistent left superior vena cava and venography showed absent ...
Shanmuga Sundaram Rathakrishnan   +2 more
doaj   +1 more source

Síndrome de la vena cava superior asociado a carcinoma anaplásico del tiroides

open access: yesActa Médica del Centro, 2022
Introducción: el síndrome de la vena cava superior es un conjunto de síntomas y signos causados por el deterioro del flujo sanguíneo de la mitad superior del tórax, el cuello, la cabeza y las extremidades superiores a la aurícula derecha debido a la ...
Luis Alberto Santos Pérez   +1 more
doaj  

Theoretical investigation of transgastric and intraductal approaches for ultrasound-based thermal therapy of the pancreas. [PDF]

open access: yes, 2017
BackgroundThe goal of this study was to theoretically investigate the feasibility of intraductal and transgastric approaches to ultrasound-based thermal therapy of pancreatic tumors, and to evaluate possible treatment strategies.MethodsThis study ...
Adams, Matthew S   +4 more
core   +1 more source

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