Results 161 to 170 of about 275,052 (295)

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Early Outcomes of Right Ventricular Pressure and Volume Overload in an Ovine Model. [PDF]

Biology (Basel)
Al Hussein H, Al Hussein H, Harpa MM, Ghiragosian SER, Gurzu S, Cordos B, Sircuta C, Puscas AI, Anitei DE, Lefter C, Suciu H, Simionescu D, Brinzaniuc K.   +12 more
europepmc   +1 more source

Maternal Sirolimus Treatment Reverses Cardiac Rhabdomyoma‐Induced Hydrops Fetalis in a Twin Gestation With Tuberous Sclerosis Complex

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardiac rhabdomyomas are often the presenting sign of tuberous sclerosis complex (TSC). Prior reports have shown that maternal sirolimus treatment can reduce rhabdomyomas. We used maternal sirolimus to reverse hydrops fetalis due to a massive cardiac rhabdomyoma in a twin gestation.
David M. Ritter, Kristin Schneider, Nkiru Ezeakudo, Darcy A. Krueger, Tomoyuki Mizuno, Timothy K. Knilans, David N. Franz   +6 more
wiley   +1 more source

Use of ultrasonic left ventricular pressure-strain loops to predict weaning failure in critically ill patients: a pilot study. [PDF]

Quant Imaging Med Surg
Lu F, Wu H, Wu Z, Zhan S, Zheng Q, Zhong R.   +5 more
europepmc   +1 more source

Left Ventricular Pressure Estimation Using Machine Learning-Based Heart Sound Classification. [PDF]

Front Cardiovasc Med, 2022
Westphal P, Luo H, Shahmohammadi M, Heckman LIB, Kuiper M, Prinzen FW, Delhaas T, Cornelussen RN.   +7 more
europepmc   +1 more source

Pulmonary Arterial Hypertension Onset in an Adult Woman With a TBX4 Likely Pathogenic Variant Following Imatinib Administration: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The TBX4 gene has a critical importance in the development of the lower limbs and lungs. Pathogenic variants in this gene are associated with a variable spectrum of skeletal anomalies of the lower limb and pneumological manifestations, with dominant or recessive inheritance.
Simone Carbonera, Laura Scelsi, Alessandra Greco, Sandra Schirinzi, Annalisa Turco, Antonella Casella, Marta Carboni, Gaia Visani, Mauro Acquaro, Stefano Ghio, Silvia Kalantari, Enza Maria Valente, Fabio Sirchia   +12 more
wiley   +1 more source

An Unsupervised Approach to Derive Right Ventricular Pressure-Volume Loop Phenotypes in Pulmonary Hypertension. [PDF]

Pulm Circ
Sivakumar N, Zhang C, Chang-Chien C, Gu P, Li Y, Yang Y, Rosen D, Tuhy T, Cubero Salazar IM, Kauffman M, Damico RL, Taylor CO, Greenstein JL, Hsu S, Hassoun PM, Simpson CE.   +15 more
europepmc   +1 more source

Effects of mechanical ventilation versus apnea on bi-ventricular pressure-volume loop recording. [PDF]

Physiol Res, 2022
Dam Lyhne M, Schmidt Mortensen C, Valentin Hansen J, Juel Dragsbaek S, Nielsen-Kudsk JE, Andersen A.   +5 more
europepmc   +1 more source

The Use of Apexcardiography in the Assessment of Left Ventricular Diastolic Pressure [PDF]

, 1970
Gustav C. Voigt, Gottlieb C. Friesinger
openalex   +1 more source

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote, Sheetal R. Patel, Kristian Havmand Mortensen, Isabel Witvrouwen, Anthonie Duijnhouwer, Nicole M. Brown, Jasmine Grewal, Kathryn C. Chatfield, Aaron T. Dorfman, Siddharth K. Prakash   +9 more
wiley   +1 more source