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Akademický článek

A retrospective review of LMNB1-related autosomal dominant leukodystrophy

Autor: Judit M. Perez Ortiz, Karthik Muthusamy, W. Oliver Tobin, Ralitza Gavrilova, Margot A. Cousin, Radhika Dhamija

Publikováno v: Journal of Rare Diseases, Vol 3, Iss 1, Pp 1-5 (2024)

Abstract Introduction LMNB1-related autosomal dominant leukodystrophy (ADLD) is a slowly progressive neurodegenerative disorder caused by overexpression of LMNB1. We retrospectively reviewed charts of all ADLD patients seen at Mayo Clinic. Methods Al

Externí odkaz: https://doaj.org/article/fee64c72926d496d85722fdda5e4b36d

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Akademický článek

Ligasure versus Traditional Suturing in Total Abdominal Hysterectomy: A Retrospective Observational Study

Autor: Pratap Pharande, Vikas Tambe, Urvashi Jainani, Radhika Dhedia, Chittampaly Sri Rukmini

Publikováno v: Journal of Clinical and Diagnostic Research, Vol 18, Iss 08, Pp 01-03 (2024)

Introduction: Gynaecological procedures may be performed via vaginal, abdominal, or minimally invasive approaches, such as laparoscopy, hysteroscopy, and robotic surgery. Abdominal hysterectomy, a prevalent major surgical intervention, is linked to s

Externí odkaz: https://doaj.org/article/27201bbb71b54098be0483ef16e858d9

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Akademický článek

Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases

Autor: Matheus V. M. B. Wilke, Eric W. Klee, Radhika Dhamija, Fernando C. Fervenza, Brittany Thomas, Nelson Leung, Marie C. Hogan, Megan M. Hager, Kayla J. Kolbert, Jennifer L. Kemppainen, Elle C. Loftus, Katie M. Leitzen, Carolyn R. Vitek, Tammy McAllister, Konstantinos N. Lazaridis, Filippo Pinto e Vairo

Publikováno v: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)

Abstract Background Though next-generation sequencing (NGS) tests like exome sequencing (ES), genome sequencing (GS), and panels derived from exome and genome data (EGBP) are effective for rare diseases, the ideal diagnostic approach is debated. Limi

Externí odkaz: https://doaj.org/article/972503d913ba4e5d89b1ba27347069e3

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Akademický článek

Toxic metal mixtures in private well water and increased risk for preterm birth in North Carolina

Autor: Lauren A. Eaves, Alexander P. Keil, Anne Marie Jukic, Radhika Dhingra, Jada L. Brooks, Tracy A. Manuck, Julia E. Rager, Rebecca C. Fry

Publikováno v: Environmental Health, Vol 22, Iss 1, Pp 1-15 (2023)

Abstract Background Prenatal exposure to metals in private well water may increase the risk of preterm birth (PTB) (delivery 25% of tests exceeded the MCL for lead (aOR 1.10, 95%CI 1.02,1.18) or cadmium (aOR 1.11, 95% CI 1.00,1.23) had an increased o

Externí odkaz: https://doaj.org/article/05fff0128acc4c30a56c6a744ef80c59

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Akademický článek

Correction: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)

Autor: Filippo Pinto e Vairo, Jennifer L. Kemppainen, Carolyn R. Rohrer Vitek, Denise A. Whalen, Kayla J. Kolbert, Kaitlin J. Sikkink, Sarah A. Kroc, Teresa Kruisselbrink, Gabrielle F. Shupe, Alyssa K. Knudson, Elizabeth M. Burke, Elle C. Loftus, Lorelei A. Bandel, Carri A. Prochnow, Lindsay A. Mulvihill, Brittany Thomas, Dale M. Gable, Courtney B. Graddy, Giovanna G. Moreno Garzon, Idara U. Ekpoh, Eva M. Carmona Porquera, Fernando C. Fervenza, Marie C. Hogan, Mireille El Ters, Kenneth J. Warrington, John M. Davis, Matthew J. Koster, Amir B. Orandi, Matthew L. Basiaga, Adrian Vella, Seema Kumar, Ana L. Creo, Aida N. Lteif, Siobhan T. Pittock, Peter J. Tebben, Ejigayehu G. Abate, Avni Y. Joshi, Elizabeth H. Ristagno, Mrinal S. Patnaik, Lisa A. Schimmenti, Radhika Dhamija, Sonia M. Sabrowsky, Klaas J. Wierenga, Mira T. Keddis, Niloy Jewel J. Samadder, Richard J. Presutti, Steven I. Robinson, Michael C. Stephens, Lewis R. Roberts, William A. Faubion, Sherilyn W. Driscoll, Lily C. Wong-Kisiel, Duygu Selcen, Eoin P. Flanagan, Vijay K. Ramanan, Lauren M. Jackson, Michelle L. Mauermann, Victor E. Ortega, Sarah A. Anderson, Stacy L. Aoudia, Eric W. Klee, Tammy M. McAllister, Konstantinos N. Lazaridis

Publikováno v: Journal of Translational Medicine, Vol 22, Iss 1, Pp 1-2 (2024)

Externí odkaz: https://doaj.org/article/7330cbbda97649539c05138a79d450aa

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Akademický článek

Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)

Publikováno v: Journal of Translational Medicine, Vol 21, Iss 1, Pp 1-10 (2023)

Abstract Background In the United States, rare disease (RD) is defined as a condition that affects fewer than 200,000 individuals. Collectively, RD affects an estimated 30 million Americans. A significant portion of RD has an underlying genetic cause

Externí odkaz: https://doaj.org/article/379d322058a142068b8b67a35317dec9

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Akademický článek

Wildfire smoke exposure and early childhood respiratory health: a study of prescription claims data

Autor: Radhika Dhingra, Corinna Keeler, Brooke S. Staley, Hanna V. Jardel, Cavin Ward-Caviness, Meghan E. Rebuli, Yuzhi Xi, Kristen Rappazzo, Michelle Hernandez, Ann N. Chelminski, Ilona Jaspers, Ana G. Rappold

Publikováno v: Environmental Health, Vol 22, Iss 1, Pp 1-13 (2023)

Abstract Wildfire smoke is associated with short-term respiratory outcomes including asthma exacerbation in children. As investigations into developmental wildfire smoke exposure on children’s longer-term respiratory health are sparse, we investiga

Externí odkaz: https://doaj.org/article/80b84cde222f4dfb99e5b879d6f4f55c

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Akademický článek

P055: Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency presenting with involuntary choreiform movements and dystonia

Autor: Mayowa Osundiji, Radhika Dhamija

Publikováno v: Genetics in Medicine Open, Vol 2, Iss , Pp 100932- (2024)

Externí odkaz: https://doaj.org/article/d9e419edb7be422bae11a180eb5b1442

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Akademický článek

P185: Genome and exome sequencing to define cardiac phenotypes in diagnostic odyssey cases

Autor: Marta Figueiral, Alessia Paldino, Matheus Wilke, Brendan Lanpher, Ralitza Gavrilova, Karthik Muthusamy, Pavel Pichurin, Radhika Dhamija, Klaas Wierenga, Myra Wick, Lisa Schimmenti, Konstantinos Lazaridis, Eric Klee, Naveen Pereira

Publikováno v: Genetics in Medicine Open, Vol 2, Iss , Pp 101082- (2024)

Externí odkaz: https://doaj.org/article/7a9d6173cd064d2da1876bff2796b054

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Akademický článek

Placental epigenetic gestational aging in relation to maternal sociodemographic factors and smoking among infants born extremely preterm: a descriptive study

Autor: Jeliyah Clark, Catherine M. Bulka, Chantel L. Martin, Kyle Roell, Hudson P. Santos, T. Michael O’Shea, Lisa Smeester, Rebecca Fry, Radhika Dhingra

Publikováno v: Epigenetics, Vol 17, Iss 13, Pp 2389-2403 (2022)

Social determinants of health (SDoH) are defined as the conditions in which people are born, grow, live, work, and age. The distribution of these conditions is influenced by underlying structural factors and may be linked to adverse pregnancy outcome

Externí odkaz: https://doaj.org/article/3b6168e2133b47f0be38d292064be34b

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