Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder by Itay Tokatly Latzer, Jean-Baptiste Roullet, Wardiya Afshar-Saber, Henry H. C. Lee, Mariarita Bertoldi, Gabrielle E. McGinty, Melissa L. DiBacco, Erland Arning, Melissa Tsuboyama, Alexander Rotenberg, Thomas Opladen, Kathrin Jeltsch, Àngels García-Cazorla, Natalia Juliá-Palacios, K. Michael Gibson, Mustafa Sahin, Phillip L. Pearl

“…Abstract Background Succinic semialdehyde dehydrogenase deficiency (SSADHD) represents a model neurometabolic disease at the fulcrum of translational research within the Boston Children’s Hospital Intellectual and Developmental Disabilities Research Centers (IDDRC), including the NIH-sponsored natural history study of clinical, neurophysiological, neuroimaging, and molecular markers, patient-derived induced pluripotent stem cells (iPSC) characterization, and development of a murine model for tightly regulated, cell-specific gene therapy. …”
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Ibero-American consensus statement on migraine treatment by José Miguel Láinez, Oscar Pradilla, Pablo Irimia, Fidel Sobrino, Michel Volcy, Pedro Kowaks, Ildefonso Rodríguez Leyva, Fiorella Martín, Lucía Zavala, Alex Espinoza

“…Introduction and objectives: Migraine is the most common reason for neurology outpatient consultation; more than 80% of patients with migraine suffer some degree of associated disability. Migraine is an underdiagnosed disorder and patients frequently receive inappropriate treatment, which is why it is necessary to establish recommendations to improve patient management. …”
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Impaired cognitive function and decreased monoamine neurotransmitters in the DNAJC12 gene knockout mouse model by Shunan Wang, Ming Shen, Bo Pang, Bo Zhou, Yuan Yuan, Mei Lu, Xiangling Deng, Min Yang, Shufang Liu, Qiong Wang, Mei Xue, Qisheng Xia, Zhixin Zhang

“…Purpose This study aims to elucidate the role of DNAJC12 in intellectual disability and explore the mechanisms by which DNAJC12 deficiency leads to hyperphenylalaninemia through developing a DNAJC12 gene knockout mouse model. …”
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A Feasibility Randomised Controlled Trial of the New Orleans Intervention for Infant Mental Health: A Study Protocol by Rachel Pritchett, Bridie Fitzpatrick, Nicholas Watson, Richard Cotmore, Philip Wilson, Graham Bryce, Julia Donaldson, Kathleen Boyd, Charles Zeanah, John Norrie, Julie Taylor, Julie Larrieu, Martina Messow, Matt Forde, Fiona Turner, Susan Irving, Helen Minnis

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Risk factors associated with degenerative glenohumeral osteoarthritis by Ravi Prakash, Nitin B Jain, Ziyi Chen, Folefac D Atem, Michael S Khazzam, Rashmi Pathak, Daniel Tai, Ursa BezanPetric, Estefanie Garduno Rapp

“…Univariate, least absolute shrinkage and selection operator and multivariate analyses identified risk factors, including age, body mass index (BMI), sex, work-related shoulder problems, shoulder disability, dislocation, previous trauma, surgery, smoking, hypertension, diabetes, depression, heart disease, OA, night pain and overall sleep quality.Results A total of 1827 cases and 1556 controls were identified for GH OA. …”
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Physical health in young males and risk of chronic musculoskeletal, cardiovascular, and respiratory diseases by middle age: A population-based cohort study. by Aleksandra Turkiewicz, Karin Magnusson, Simon Timpka, Ali Kiadaliri, Andrea Dell'Isola, Martin Englund

“…<h4>Background</h4>Cardiovascular, respiratory, and musculoskeletal disease are among the leading causes of disability in middle-aged and older people. Health and lifestyle factors in youth have known associations with cardiovascular or respiratory disease in adulthood, but largely unknown associations with musculoskeletal disease.…”
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The effect of core stabilization exercises and shock wave therapy in patients with radiculopathy by J. Bubelis

“…Lumbar radiculopathy is characterized by a wide variety of symptoms including the most common: lower back pain and lower limb pain, muscle weakness, disorders of proprioreceptive and postural control, which adversely affect the daily activities and quality of life of a person and result in a decrease in labour productivity in the working age population as well as disability development. Physical exercises and physiotherapy used during physical therapy have shown to reduce pain, improve and manage balance. …”
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Establishment and validation a relapse prediction model for bipolar disorder by Xiaoqian Zhang, Xiaoqian Zhang, Xiaoqian Zhang, Xiaoqian Zhang, Minghao Wu, Daojin Wang, Long Wang, Long Wang, Long Wang, Wen Xie, Wen Xie, Wen Xie

“…According to the results of univariate and multivariate logistic regression analyses, the number of prior episodes (odds ratio [OR]: 1.38, 95% confidence interval [CI]: 1.179–1.615), Social Disability Screening Schedule (SDSS) score (OR: 1.303, 95% CI: 1.027-1.652), Pittsburgh Sleep Quality Index (PSQI) (OR: 1.476, 95% CI: 1.29-1.689), Number of visits(OR: 0.768, 95% CI: 0.684-0.863), suicidal behaviors (OR: 5.54, 95% CI: 1.818-16.881) and the electroconvulsive therapy (ECT) (OR: 0.382, 95% CI: 0.156-0.94) were independent risk factors for relapse in patients with BD. …”
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Epidemiological analysis primary open-angle glaucoma incidence and prevalence in Russia by A.B. Movsisyan, A.V. Kuroyedov, M.A. Arkharov, V.V. Prokhorenko, I.A.Chepurnov

“…An increase in&nbsp;visual disability and, therefore, rapid loss of working capacity in various age groups due to "late" diagnosis and treatment are also likely. …”
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Functional cognitive disorder: Beyond pseudodementia by D.S. Marín-Medina, P.A. Arenas-Vargas, M. del Pilar Velásquez-Duque, P.M. Bagnati

“…Special emphasis is placed on the prognosis of this condition, which, despite the associated disability and distress, rarely progresses to dementia. …”
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Secreted PD-L1 alleviates inflammatory arthritis in mice through local and systemic AAV gene therapy by Wenjun Li, Wenjun Li, Junjiang Sun, Susi Feng, Ariana La Rosa, Panli Zhang, Eveline Y. Wu, Richard Loeser, Chengwen Li, Chengwen Li, Chengwen Li

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Effect of an Internet-Based Pilates Telerehabilitation Intervention in People With Multiple Sclerosis: Protocol for a Randomized Controlled Trial by Andrea Tacchino, Michela Ponzio, Paolo Confalonieri, Letizia Leocani, Matilde Inglese, Diego Centonze, Eleonora Cocco, Paolo Gallo, Damiano Paolicelli, Marco Rovaris, Loredana Sabattini, Gioacchino Tedeschi, Luca Prosperini, Francesco Patti, Edoardo Sessa, Elisabetta Pedrazzoli, Mario Alberto Battaglia, Giampaolo Brichetto

“…People with MS with mild disability, low risk of falling, preserved cognitive functions, and low anxiety and depression are potential eligible participants. …”
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Global, regional, and national epidemiology of childhood neuroblastoma (1990–2021): a statistical analysis of incidence, mortality, and DALYsResearch in context by Jusen Nong, Cheng Su, Changhua Li, Congjun Wang, Wei Li, Yong Li, Peng Chen, Yanqiang Li, Zihao Li, Xinjin She, Zuxin Yuan, Sentian Liu, Chao Chen, Qian Liao, Yige Luo, Bo Shi

“…This study aims to report global trends in the incidence, mortality, and disability-adjusted life years (DALYs) of childhood neuroblastoma from 1990 to 2021. …”
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Blood biomarker dynamics in people with relapsing multiple sclerosis treated with cladribine tablets: results of the 2-year MAGNIFY-MS study by Heinz Wiendl, Frederik Barkhof, Frederik Barkhof, Xavier Montalban, Anat Achiron, Anat Achiron, Tobias Derfuss, Andrew Chan, Suzanne Hodgkinson, Alexandre Prat, Letizia Leocani, Letizia Leocani, Letizia Leocani, Klaus Schmierer, Klaus Schmierer, Finn Sellebjerg, Finn Sellebjerg, Patrick Vermersch, Hulin Jin, Anita Chudecka, Andreas Kloetgen, Dongdong Lin, Lidia Gardner, Nicola De Stefano

“…Clinical measures included: MRI activity, annualized relapse rate (ARR), 6-month confirmed disability progression (6mCDP), timed 25-foot walk (T25FW), and 9-hole peg test (9HPT).ResultsAll B, T and NK cells were reduced at month (M)3 after CladT administration, except regulatory B cells which increased above BL from M3 to M24. …”
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Implementation of in utero laparotomy-assisted fetoscopic spina bifida repair in two centers in Latin America: rationale for this approach in this regionAJOG Global Reports at a Gl... by Jezid Miranda, PhD, Miguel A. Parra-Saavedra, PhD, William O. Contreras-Lopez, PhD, Cristóbal Abello, MD, Guido Parra, MD, Juan Hernandez, MD, Amanda Barrero, MD, Isabela Leones, MD, Adriana Nieto-Sanjuanero, MD, Gerardo Sepúlveda-Gonzalez, MD, Magdalena Sanz-Cortes, PhD

“…Background: Spina bifida (SB) is a severe congenital malformation that affects approximately 150,000 infants annually, predominantly in low- and middle-income countries, leading to significant morbidity and lifelong disabilities. In Latin America, the birth prevalence of SB is notably high, often exacerbated by limited healthcare resources and poor access to advanced medical care. …”
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Clinical analysis of microscopic modified ostium obstruction surgery for symptomatic sacral Tarlov cysts by HUANG Qin‐guo, WU Yan‐yu, LI Hong, ZHOU Qiang, PENG Lin, LU Yun‐tao

“…Visual Analogue Scale (VAS) was used before surgery, at discharge and at the last follow ⁃up, and Scoring System for the Clinical Evaluation of Patients with Spinal Processes (SCPS), Oswestry Disability Index (ODI), Japanese Orthopedic Association Scores (JOA29) and MacNab criteria were used before surgery and at the last follow ⁃ up to evaluate neurological function. …”
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Special issue: Proceedings of the 15th ISIC - The Information Behaviour Conference, Aalborg, Denmark, August 26-29, 2024

“…Garwood The reading practices of people with neuropsychiatric disabilities: a review of library and information science literature Katarina Hagberg, Karin Lundin, Anna Lundh, Åse Hedemark Representational exchange and edgework: towards theorising the coping with fragmentary information Isto Huvila Digital health applications and health literacy: an explorative analysis Aylin Imeri, Sabrina Schorr, Sebastian Merkel To share or not to share? …”
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Comparative analysis of clinical efficacy of unilateral biportal endoscopic and open transforaminal lumbar interbody fusion in the treatment of lumbar degenerative by Tao Ma, Xiaoshuang Tu, Junyang Li, Yongcun Geng, Yongcun Geng, Jingwei Wu, Senlin Chen, Dengming Yan, Dengming Yan, Ming Jiang, Ming Jiang, Gongming Gao, Luming Nong

“…Clinical efficacy was assessed preoperatively and at 1 month, 3 months, and 12 months postoperatively using the Visual Analogue Scale (VAS) and the Oswestry Disability Index (ODI). Patient satisfaction was evaluated using the modified Macnab criteria. …”
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A meta-analysis of randomized controlled trials: evaluating the efficacy of isokinetic muscle strengthening training in improving knee osteoarthritis outcomes by Wanqin Guo, Jingyang Gao, Dawazhuoma, Xiuling Mi, Ciwang, Bianba

“…The primary pathological manifestations of KOA include articular cartilage degeneration, joint space narrowing, and osteophyte formation, leading to a spectrum of symptoms, including joint pain, stiffness, reduced mobility, diminished muscle strength, and severe disability. We aimed to utilize a meta-analysis to evaluate the efficacy of isokinetic muscle strengthening training (IMST) as a rehabilitation treatment for KOA in lowland areas. …”
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Effects of Exercise Preconditioning Mediating Oxidative Stress to Regulate PI3K/Akt and Nrf2/HO-1 Pathways to Alleviate Cognitive and Learning Disorders in Rats by KONG Haijun, LI Xinlong, WANG Fenghua, CHEN Xiaoan

“…ObjectiveTo explore the basic mechanism of exercise preconditioning regulating PI3K/Akt and Nrf2/HO-1 signa-ling pathways and oxidative stress to alleviate cognitive and learning disabilities in rats with hypoxic exposure.MethodsA total of sixty 6-week-old SPF male SD rats were divided into control group, exercise group, exposure group and exercise + exposure group according to random number table method, with 15 rats in each group. …”
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