Zobrazeno 1 - 10
of 560
pro vyhledávání: '"cascade testing"'
Publikováno v:
BMC Neurology, Vol 24, Iss 1, Pp 1-9 (2024)
Abstract Background Cascade testing can offer improved surveillance and timely introduction of clinical management for the at-risk biological relatives. Data on cascade testing and costs in mitochondrial diseases are lacking. To address this gap, we
Externí odkaz:
https://doaj.org/article/2cff59b63a47472e84f5a9a26dbc5cae
Autor:
Laney K. Jones, PharmD, MPH, Gemme Campbell-Salome, PhD, Nicole L. Walters, BS, Andrew Brangan, BS, Kelly M. Morgan, MS, Eric P. Tricou, MS, Zoe T. Lindsey Mills, BS, Mary P. McGowan, MD, Samuel S. Gidding, MD, Alicia M. Johns, PhD, H. Lester Kirchner, PhD, Alanna Kulchak Rahm, PhD, Amy C. Sturm, MS
Publikováno v:
JACC: Advances, Vol 3, Iss 9, Pp 101198- (2024)
Background: Relatives of probands diagnosed with familial hypercholesterolemia (FH) should undergo cascade testing for FH. Objectives: The purpose of this study was to evaluate probands’ choices of innovative strategies to communicate their FH resu
Externí odkaz:
https://doaj.org/article/783b7d5f51a54c71b4cd5f9ef467d74a
Publikováno v:
JACC: Advances, Vol 3, Iss 9, Pp 101201- (2024)
Externí odkaz:
https://doaj.org/article/0b569a06802748bc818f30004da7c735
Autor:
Pamela Rivero-García, Yanin Chavarri-Guerra, José Luis Rodríguez Olivares, Jeffrey N. Weitzel, Josef Herzog, Fernando Candanedo-González, Javier Ríos-Valencia, Osvaldo M. Mutchinick, Jazmín Arteaga-Vázquez
Publikováno v:
Heliyon, Vol 10, Iss 11, Pp e31855- (2024)
Lynch syndrome (LS) is the most frequent cancer predisposition syndrome affecting the colon and rectum. A pathogenic variant (PV) disrupting one of the mismatch repair (MMR) genes is responsible for the disease. The spectrum of tumors in LS is hetero
Externí odkaz:
https://doaj.org/article/9a690b1e6662452aad704454048d8db8
Autor:
Gemme Campbell-Salome, Laney K. Jones, Nicole L. Walters, Kelly M. Morgan, Andrew Brangan, Ilene G. Ladd, Mary P. McGowan, Katherine Wilemon, Tara J. Schmidlen, Emilie Simmons, Marci L. B. Schwartz, Megan N. McMinn, Eric Tricou, Alanna K. Rahm, Catherine D. Ahmed, Amy C. Sturm
Publikováno v:
BMC Health Services Research, Vol 23, Iss 1, Pp 1-13 (2023)
Abstract Background This project aimed to optimize communication strategies to support family communication about familial hypercholesterolemia (FH) and improve cascade testing uptake among at-risk relatives. Individuals and families with FH provided
Externí odkaz:
https://doaj.org/article/f16fbdb1412c4e85adc34d625d531fdc
Autor:
Mohammed Tiseer Abbas, Nima Baba Ali, Juan M. Farina, Ahmed K. Mahmoud, Milagros Pereyra, Isabel G. Scalia, Moaz A. Kamel, Timothy Barry, Steven J. Lester, Charles R. Cannan, Rohit Mital, Susan Wilansky, William K. Freeman, Chieh-Ju Chao, Said Alsidawi, Chadi Ayoub, Reza Arsanjani
Publikováno v:
Biomedicines, Vol 12, Iss 3, p 682 (2024)
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiomyopathy. It follows an autosomal dominant inheritance pattern in most cases, with incomplete penetrance and heterogeneity. It is familial in 60% of cases and most of these are caus
Externí odkaz:
https://doaj.org/article/d9df9d814eec42ec8ee197e9bb985497
Autor:
Hikmat Abdel-Razeq, Rawan Mustafa, Sarah Abdel-Razeq, Hala Abu-Fares, Sama Al Masri, Rana Damsees, Mariam El-Atrash, Shatha Elemian, Mais Alkyam, Khawlah Ammar, Rayan Bater, Marah Kderat, Abdulrahman Alhajahjeh
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Background: Breast cancer susceptibility genes such as BRCA1, BRCA2, PALB2, CHEK2 and many others are increasingly recognized among our patient population. In addition to their impact on treatment decisions of tested patients themselves, identifying
Externí odkaz:
https://doaj.org/article/8969c859312547a493dd135867181475
Autor:
Nidhy P. Varghese, Akhilesh A. Padhye, Pilar L. Magoulas, George B. Mallory, Fadel E. Ruiz, Sandeep Sahay
Publikováno v:
Pulmonary Circulation, Vol 13, Iss 3, Pp n/a-n/a (2023)
Abstract Heritable pulmonary artery hypertension (HPAH) is an increasingly recognized type of pulmonary arterial hypertension, in both pediatric and adult population. Intrinsic to hereditary disease, screening for genetic mutations within families is
Externí odkaz:
https://doaj.org/article/606616355a4c4ac1a9e6bb7463e9f388
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