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Autosomal recessive diseases

Decreased risk of underdosing with continuous infusion versus intermittent administration of cefotaxime in patients with sickle cell disease and acute chest syndrome

Keyvan Razazi, Enora Berti, Jerome Cecchini, Guillaume Carteaux, Anoosha Habibi, Pablo Bartolucci, Romain Arrestier, Ségolène Gendreau, Nicolas de Prost, Anne Hulin, Armand Mekontso Dessap

published 18 Apr 2024

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miR-214 aggravates oxidative stress in thalassemic erythroid cells by targeting ATF4

Tipparat Penglong, Apisara Saensuwanna, Husanai Jantapaso, Pongpon Phuwakanjana, Natee Jearawiriyapaisarn, Kittiphong Paiboonsukwong, Worrawit Wanichsuwan, Kanitta Srinoun

published 16 Apr 2024

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Acute care utilization among individuals with sickle cell disease and related cardiopulmonary and renal complications

Ashima Singh, David C. Brousseau, Mahua Dasgupta, Arun S. Shet, Joshua J. Field, Amanda M. Brandow

published 16 Apr 2024

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Investigation of HLA susceptibility alleles and genotypes with hematological disease among Chinese Han population

Ye-Mo Li, Yu-Xia Li, Dai-Yang Li, Ying Zhou, Lin An, Zhi-Yang Yuan, Ke-Ming Du, Zhong-Zheng Zheng

published 09 Apr 2024

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Deep learning workflow to support in-flight processing of digital aerial imagery for wildlife population surveys

Tsung-Wei Ke, Stella X. Yu, Mark D. Koneff, David L. Fronczak, Luke J. Fara, Travis J. Harrison, Kyle L. Landolt, Enrika J. Hlavacek, Brian R. Lubinski, Timothy P. White

published 03 Apr 2024

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Exploring simple ways to avoid collecting highly ¹³⁷Cs-contaminated Aralia elata buds for the revival of local wild vegetable cultures

Masaru Sakai, Mirai Watanabe, Masami Kanao Koshikawa, Asuka Tanaka, Akiko Takahashi, Seiichi Takechi, Mai Takagi, Takashi Tsuji, Hideki Tsuji, Toshimasa Takeda, Jaeick Jo, Masanori Tamaoki, Seiji Hayashi

published 02 Apr 2024

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Feasibility and utility of in-home body weight support harness system use in young children treated for spinal muscular atrophy: A single-arm prospective cohort study

Megan A. Iammarino, Lindsay N. Alfano, Natalie F. Reash, Brenna Sabo, Sara Conroy, Garey Noritz, Madalynn Wendland, Linda P. Lowes

published 19 Mar 2024

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Assessment of functional diversities in patients with Asthma, COPD, Asthma-COPD overlap, and Cystic Fibrosis (CF)

Richard Kraemer, Florent Baty, Hans-Jürgen Smith, Stefan Minder, Sabina Gallati, Martin H. Brutsche, Heinrich Matthys

published 20 Feb 2024

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Ceragenin-mediated disruption of Pseudomonas aeruginosa biofilms

Urszula Wnorowska, Dawid Łysik, Ewelina Piktel, Magdalena Zakrzewska, Sławomir Okła, Agata Lesiak, Jakub Spałek, Joanna Mystkowska, Paul B. Savage, Paul Janmey, Krzysztof Fiedoruk, Robert Bucki

published 12 Feb 2024

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Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants

Eli Fritz McDonald, Kathryn E. Oliver, Jonathan P. Schlebach, Jens Meiler, Lars Plate

published 25 Jan 2024

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Prevalence of sickle cell trait and needs assessment for uptake of sickle cell screening among secondary school students in Kampala City, Uganda

Shamim Namukasa, Rose Maina, Sarah Nakaziba, Grace Among, Lydia Asasira, Posiano Mayambala, Joseph Atukwatse, Mary Namuguzi, Ahmed M. Sarki

published 19 Jan 2024

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Two risk factors for hypozincemia in diabetic β-thalassemia patients: Hepatitis C and deferasirox

Hadi Darvishi-Khezri, Hossein Karami, Mohammad Naderisorki, Mobin Ghazaiean, Mehrnoush Kosaryan, Amir Mosanejad-Galchali, Aily Aliasgharian, Hasan Karami

published 12 Jan 2024

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Prospective healthcare-associated links in transmission of nontuberculous mycobacteria among people with cystic fibrosis (pHALT NTM) study: Rationale and study design

Jane E. Gross, Silvia Caceres, Katie Poch, L. Elaine Epperson, Nabeeh A. Hasan, Fan Jia, Vinicius Calado Nogueira de Moura, Matthew Strand, Ettie M. Lipner, Jennifer R. Honda, Michael Strong, Rebecca M. Davidson, Charles L. Daley, Jerry A. Nick

published 20 Dec 2023

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