Results 131 to 140 of about 8,257 (246)

NKX2‐1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea

Movement Disorders, EarlyView.
Abstract Background NKX2‐1–related disorders (NKX2‐1‐RDs) classically present with a triad of neurological, endocrine, and pulmonary manifestations, including benign hereditary chorea. However, in a fraction of patients, NKX2‐1 coding variants are not detected, and variants outside the NKX2‐1 locus have been reported.
Robin Wijngaard, Lucy Dougherty‐de Miguel, German Demidov, Galuh Astuti, Amaia Lasa‐Aranzasti, Ana Cueto‐González, Marta Correa‐Vela, Carlos Lázaro‐Hernández, Charlotte A. Haaxma, Clara D.M. van Karnebeek, David Gómez‐Andrés, Ignacio Iglesias‐Serrano, Jiddeke M. van de Kamp, Jolanda Schieving, Laura Trujillano, Marc Engelen, Beatriz Muñoz‐Cabello, Roderick P.P.W.M. Maas, Thatjana Gardeitchik, Victoria Gonzalez, Annemarie de Vreugd, Cristina Pérez‐Sanchez, Elisabet Lloveras, Erik‐Jan Kamsteeg, Maartje Pennings, Natalia Rey‐Viñets, Javier Sánchez, Ronald van Beek, Antonio Moreno‐Galdó, Lisenka E.L.M. Vissers, Kornelia Neveling, Anna Marcé‐Grau, Machteld M. Oud, Belén Pérez‐Dueñas   +33 more
wiley   +1 more source

Clinical application of HMGB1-TLR4 signaling pathway-mediated neuroinflammatory markers in infantile epileptic spasms syndrome. [PDF]

Front Immunol
Chen H, Zhong J, Chen Y, Wu H, Wang R, Yi Z, Zeng X.   +6 more
europepmc   +1 more source

Comfort in the canopy: How urban treescapes affect human thermal comfort in a temperate climate

People and Nature, EarlyView.
Abstract People living in urban centres are exposed to higher levels of heat stress than those living outside of these areas; this is intensified by the urban heat island effect. Heat stress is a concern for the more vulnerable members of society and can exacerbate many medical conditions; excessive heat increases morbidity and mortality rates.
James Parker, Catherine E. Scott, James B. McQuaid, Thomas J. Sloan   +3 more
wiley   +1 more source

Gut microbiota dynamics and its impact on the efficacy of ACTH therapy in infantile epileptic spasms syndrome. [PDF]

Front Neurol
Zhang X, Hu X, Hao X, Zhang H, Tao Z, Liang J.   +5 more
europepmc   +1 more source

Nutritional status and functions in children with cerebral palsy at different gestational ages

Pediatric Investigation, EarlyView.
The nutritional status of cerebral palsy was significantly associated with their motor, eating and drinking ability, and their ability of daily living in the 28–32‐week and the ≥37‐week gestational age group, whereas in 33–36‐week group, correlation was only observed between the nutritional status and eating and drinking ability.
Hongmei Tang, Qihong Wu, You Wang, Tingting Peng, Yiting Zhao, Jie Luo, Yaodan Liang, Kaiyin Cai, Linlin Wu, Qinyan Wu, Hongyu Zhou, Yiming Qiu, Jinling Li, Lu He, Kaishou Xu   +14 more
wiley   +1 more source

Long-term outcome in children with infantile epileptic spasms syndrome: a multicenter retrospective study in Korea. [PDF]

Clin Exp Pediatr
Choi SA, Kim M, Kim HJ, Kim WJ, Lim BC, Han JY, Kim H, Kim MJ, Yum MS, Lee J, Lee J, Woo H, Kim JS.   +12 more
europepmc   +1 more source

Interventional oncology in children: Where are we now?

Journal of Medical Imaging and Radiation Oncology, EarlyView.
Abstract Paediatric Interventional Oncology (IO) lags behind adult IO due to a scarcity of specific outcome data. The suboptimal way to evolve this field is relying heavily on adult experiences. The distinct tumour types prevalent in children, such as extracranial germ cell tumours, sarcomas, and neuroblastoma, differ strongly from those found in ...
Premal Amrishkumar Patel, Fernando Gómez Muñoz   +1 more
wiley   +1 more source

Prevalence and incidence of infantile epileptic spasms syndrome in India: A systematic review and meta-analysis. [PDF]

Epilepsia Open
Singh A, Lal P, V S MS, Jain A, Madaan P, Sahu JK, Bansal D.   +6 more
europepmc   +1 more source

Epileptic–Dyskinetic Encephalopathy Associated with a PPP3CA Variant: Expansion of the Phenotypic Spectrum

Movement Disorders Clinical Practice, EarlyView.
Bruno Antunes Contrucci, Ursula Thomé, Larissa Aparecida Batista, Ana Laura Volpi Martins Lorenzoni, Carla Andrea Cardoso Tanuri Caldas, Americo Ceiki Sakamoto, Israel Gomy, Lisandra Mesquita Batista, Marcela Lopes de Almeida, Ana Paula Andrade Hamad, Guillermo Andrey Ariza Traslaviña   +10 more
wiley   +1 more source

Nomenclature on Immune‐Mediated Drug Reactions: An EAACI Position Paper

Allergy, EarlyView.
ABSTRACT Over the past several decades, there have been significant advances in our understanding of both immunological and pharmacological mechanisms of adverse drug reactions (ADRs). Immune‐mediated drug reactions (IMDRs) represent a small proportion of ADRs and are caused by a pathological activation of the immune system or inflammatory pathways ...
Maria J. Torres, Cristobalina Mayorga, Elizabeth J. Phillips, Adriana Ariza, Annick Barbaud, Patrizia Bonadonna, Mariana Castells, Gülfem Çelik, Knut Brockow, Lene H. Garvey, Inmaculada Doña, Jean C. Caubet, Francesca Mori, Jason Trubiano, Giorgia Marta, Antonino Romano, Ingrid Terreehorst, Asli Gelincik, Philip H. Li, Vito Sabato   +19 more
wiley   +1 more source