Results 41 to 50 of about 49,776 (253)

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

The role of ultrasonography in methotrexate therapy for ectopic pregnancy

, 2018
Medical management of ectopic pregnancy with methotrexate, an antimetabolite of folic acid, is an important alternative to surgical treatment, as it ensures a similar outcome whilst being far less invasive.
Czuczwar, Piotr, Piotr Czuczwar
core   +1 more source

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

Diagnosis and laparoscopic treatment of cornual ectopic pregnancy

, 2010
Cornual (interstitial) ectopic pregnancy is an uncommon variant of ectopic pregnancy which often poses a diagnostic and therapeutic challenge with a significant risk of rupturing and bleeding. We present a ruptured right cornual pregnancy and explain how
Walid, MS, Heaton, RL, Heaton, Richard L., Walid, M. Sami   +3 more
core   +1 more source

Non-tubal Ectopic Pregnancy [PDF]

, 2020
"Non-Tubal Ectopic Pregnancy" is a comprehensive book, written in an organized and concise format. The book offers an immersion into non-tubal ectopic pregnancy and the reader is invited, chapter after chapter, to visit the most important aspects of non ...

core   +1 more source

A microscopically assisted limited colectomy mouse model of early colon cancer

Animal Models and Experimental Medicine, EarlyView.
Establishment, surgery, and evaluation process of a microscope‐assisted limited colon resection mouse model for early‐stage colon cancer. Abstract Background Currently, there is a lack of an adequate rodent model for investigating surgical techniques and comprehensive treatment options for patients with colorectal cancer (CRC).
Yu Han, Yixin Zhang, Dazhi Gao, Xuefeng Zhao   +3 more
wiley   +1 more source

Ectopic Pregnancy Risk with Assisted Reproductive Technology

, 2020
Purpose of Review To investigate the optimal methods for the reduction of ectopic pregnancy incidence due to assisted reproductive technology (ART). Recent Findings Day five or six blastocyst transfer may decrease ectopic pregnancy rates when compared ...
Caliskan, Eray, Karadag, Cihan
core   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

Intramural ectopic pregnancy

, 2010
Gestational trophoblastic neoplasia refers to a subset of gestational trophoblastic conditions characterized with persistently elevated serum β-human chorionic gonadotropin, absence of a normal pregnancy, and a history of normal or abnormal pregnancies ...
Milenković Vera, Lazović Biljana, Biljana Lazovic, Vera Milenkovic   +3 more
core   +1 more source