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Genetic diseases

Pain processing and pain assessment in Huntington’s disease: Study protocol of the Huntington’s disease - PAIN study

Gregory P. Sprenger, Monique van Velzen, Wilco P. Achterberg, Raymund A.C. Roos, Susanne T. de Bot

published 10 Apr 2026

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Toxoplasma gondii seropositivity among patients with sickle cell disease: Prevalence and association with blood transfusion history

Verner N. Orish, Renosten E. Tetteh, David Adzah, Chinecherem A. Ndiokwelu, Emmanuel A. Allotey, Evans A. Yeboah, Sylvester Y. Lokpo, Kenneth Ablordey, Duneeh R. Vikpebah, Ekene K. Nwaefuna, Precious K. Kwadzokpui, Noble D. Dika, Elom Y. Dzefi, Kokou H. Amegan-Aho, Aninagyei Enoch, Senyo Tagboto

published 03 Apr 2026

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Effect of health educational intervention on early detection of sickle cell disease among adolescent population in tribal areas of East Singhbhum district, Jharkhand: A study protocol

Sarbasree Bhattacharjee, Jarina Begum, Ranjitha S. Shetty, Syed Irfan Ali, Ravi Ranjhan Jha, Anit Kujur, Mohd Amir Ansari

published 01 Apr 2026

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Asymptomatic gallstones: Cumulative incidence proportion, incidence rate, and risk factors for symptoms development: Systematic review and meta-analysis

Mohammad Alzoubi, Ahmad Omar Saleh, Farah Al Omari, Kinda Shatnawi, Batool Hyari, Ala’a Qashou, Khaled Daradka, Salam Daradkeh, Mohammad Abu Hilal, Alessandro Parente

published 26 Mar 2026

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Nonmyeloablative pentostatin-cyclophosphamide preconditioning improves rates of engraftment in adults undergoing haploidentical HCT for sickle cell disease

Emily Limerick, Matthew Hsieh, Jackie Queen, Mary Lacy Grecco, Julia Varga, Jennifer Brooks, Wynona Coles, Neal Jeffries, Courtney D. Fitzhugh

published 23 Mar 2026

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Low self-esteem in adolescents with sickle cell disease: Determinants and coping mechanisms; A mixed methods study

Janipher Nakabuye, Wani Muzeyi, Annet Nakirulu, Sarah Kiguli, Grace Ndeezi, Deogratias Munube

published 12 Mar 2026

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Investigating the effects of cannabinoids for the reduction of inflammation and sickle cell disease pain (CRISP); A protocol for a randomized double-blind placebo-controlled study

Jordan Bellis, Lydia Monk, Ritika Jhawar, Galia Pollock, Angela Liu, Charleen Jacobs-McFarlane, Brittany McCrary, Jeffrey Glassberg, Susanna Curtis

published 28 Jan 2026

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Explainable AI framework for improved Thalassemia mental health classification and feature selection

Shahriar Siddique Ayon, Abdullah Al Mamun, Md. Ebrahim Hossain, Wasan Alamro, Yazan M. Allawi, Nuzhat Noor Islam Prova, Md. Saef Ullah Miah, Salman Md Sultan, Ahmad Abadleh

published 23 Jan 2026

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Optimizing expanded carrier screening for China: Multi-center study establishes 202-gene panel with optimal cost-effectiveness in preconception and prenatal care

Yulu Yang, Yuting Hang, WeiSheng Cheng, Yunxia Cao, Zhaolian Wei, Jing Yuan

published 22 Jan 2026

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Immortalization and characterization of Schwann cell lines derived from NF1-associated cutaneous neurofibromas

Hua Li, Alexander Pemov, Robert Allaway, David F. Muir, Lung-Ji Chang, Jineta Banerjee, Alexandra J. Scott, Jaime M.W. Nagy, Jian Liu, Meritxell Carrió, Helena Mazuelas, Anthony Yachnis, Sang Y. Lee, Xiaochun Zhang, Yang Lyu, Douglas R. Stewart, Angela Hirbe, Jaishri O. Blakeley, Eduard Serra, Deeann Wallis, Margaret R. Wallace

published 21 Jan 2026

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Blood-brain barrier integrity and prevalence of intrathecal T helper 17.1 cells in Huntington´s disease

Birna Ásbjörnsdóttir, Christian Sandøe Musaeus, Marie N. N. Hellem, Tua Vinther-Jensen, Patrick Ejlerskov, Esben Budtz-Jørgensen, Filippa Liliendahl Qvist, Anja Hviid Simonsen, Lena Elisabeth Hjermind, Niels Henning Skotte, Marina Rode von Essen, Finn Sellebjerg, Jørgen Erik Nielsen

published 12 Jan 2026

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A qualitative exploration of the experience of individual-level stigma among adolescents with a chronic illness

Joan A. Thomas, Garth Lipps

published 18 Dec 2025

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Exercise as a therapy for sickle cell-associated musculoskeletal pain among children: Healthcare professionals’ perspectives

Britney Pinamang Gyampo, Isaac Mensah Bonsu

published 12 Dec 2025

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