Results 61 to 70 of about 8,625 (250)

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Zebrafish xenograft models as a fast platform for metastasis diagnosis and cisplatin response of head and neck squamous cell carcinoma

Animal Models and Experimental Medicine, EarlyView.
A zebrafish xenograft model accurately distinguishes metastatic from non‐metastatic HNSCC and recapitulates cisplatin sensitivity/resistance patterns. Using patient‐derived tumors, it predicts individual therapeutic responses, offering a rapid, clinically applicable platform for guiding personalized treatment. Abstract Background Head and neck squamous
Lu Chen, Shu Sun, Yujia Liu, Liehao Jiang, Cuiyun Wu, Ting Liu, Yujiao Zhao, Yuwei Liu, Lu Liu, Qi Wang, Xiaowei Zheng, Ping Huang   +11 more
wiley   +1 more source

Posterior Fusion in a Case of Lenke Type 2 Adolescent Idiopathic Scoliosis with Severe Factor VII Deficiency: A Case Report

Journal of Orthopedic and Spine Trauma
Background: Congenital factor VII (FVII) deficiency is a rare autosomal recessive coagulation disorder that poses significant challenges during major surgeries, particularly high-risk procedures like instrumented spinal fusion for adolescent idiopathic ...
Maziar Malekzadeh, Babak Mrzashahi, Siamak Shabani   +2 more
doaj   +1 more source

The petrotympanic canal (Huguier canal): Evolutionary, anatomical, and medical perspectives

The Anatomical Record, EarlyView.
Abstract The petrotympanic canal, traditionally referred to as Civinini's or Huguier's canal, represents an anatomical passage connecting the middle ear and temporomandibular joint (TMJ). Despite its early description, its structural complexity and functional significance have often been underestimated. In this study, we combined historical, anatomical,
Andrea Papini, Nicola Montemurro, Ferdinando Paternostro, Immacolata Belviso, Massimo Galli, Petra Martini, Licia Uccelli, Jacopo Moggi‐Cecchi, Gregorio Oxilia   +8 more
wiley   +1 more source

Descriptive, stratigraphic, and morpho‐functional study of the myocardium and myocardial bridges in domestic pig hearts

The Anatomical Record, EarlyView.
Abstract The heart is the central organ of the cardiovascular system. The myocardium is composed of a three‐dimensional network of fibers arranged in clockwise and counterclockwise helices, which are essential for proper cardiac contraction. This study aimed to describe the stratigraphic and morpho‐functional pattern of the porcine myocardium to ...
Mauricio Oliveira da Silva, Henrique Inhauser Riceti Magalhães, Rafael Garabet Agopian, Edson Aparecido Liberti   +3 more
wiley   +1 more source

Factor VII Deficiency in Systemic Mastocytosis with an Associated Myeloid Neoplasm

Hematology Reports
Factor VII (FVII) deficiency is a rare bleeding disorder that can be classified as congenital or acquired, and the majority of acquired cases are due to vitamin K deficiency or liver disease. Isolated acquired FVII deficiency is a rare occurrence and has
Giorgio Rosati, Sofia Camerlo, Alessandro Fornari, Valerio Marci, Barbara Montaruli, Alessandro Morotti   +5 more
doaj   +1 more source

From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

Arthritis &Rheumatology, EarlyView.
Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz, Seza Ozen, Hacer Neslihan Bildik, Canberk Ipsir, Dilara Unal, Saliha Esenboga, Begum Cicek, Mehmet Emin Seker, Fatima Aerts‐Kaya, Seher Sener, Mehmet Orhan Erkan, Hanife Avci, Deniz Cagdas, Ilhan Tezcan   +13 more
wiley   +1 more source

Pharmacokinetics, Effectiveness and Safety of Certolizumab Pegol in Children and Adolescents With Active Juvenile Idiopathic Arthritis: 9+‐Year Results From a Multicenter, Open‐Label Study

Arthritis &Rheumatology, EarlyView.
Objective The purpose of this study was to assess the pharmacokinetics, effectiveness, safety, and immunogenicity of certolizumab pegol (CZP) in polyarticular‐course juvenile idiopathic arthritis (pcJIA). Methods Pediatric Arthritis Study of Certolizumab Pegol (NCT01550003), a multicenter, open‐label study, enrolled patients aged 2 to 17 years with ...
Hermine I. Brunner, Lyudmila Grebenkina, Irina Nikishina, Ekaterina Alexeeva, Vyacheslav Chasnyk, Carlos Abud‐Mendoza, Nadina Rubio‐Pérez, Heinrike Schmeling, María del Rocio Maldonado‐Velázquez, Diane Brown, Andrew Zeft, Esi Morgan, C. Egla Rabinovich, Daniel Kingsbury, Hulya Bukulmez, Beth Gottlieb, Thomas Griffin, Lisa Imundo, Stacey Tarvin, Earl Silverman, Laura Shaughnessy, Saori Shimizu, Paulette Williams, Rocío Lledó‐García, Gauri Utturkar, Baran Ufuktepe, Alberto Martini, Daniel J. Lovell, Nicolino Ruperto, the Paediatric Rheumatology International Trials Organisation (PRINTO); the Pediatric Rheumatology Collaborative Study Group (PRCSG), Hermine I. Brunner, Lyudmila Grebenkina, Irina Nikishina, Ekaterina Alexeeva, Vyacheslav Chasnyk, Carlos Abud‐Mendoza, Nadina Rubio‐Pérez, Heinrike Schmeling, María del Rocio Maldonado‐Velázquez, Diane Brown, Andrew Zeft, Esi Morgan, C. Egla Rabinovich, Daniel Kingsbury, Hulya Bukulmez, Beth Gottlieb, Thomas Griffin, Lisa Imundo, Stacey Tarvin, Earl Silverman, Alberto Martini, Daniel L. Lovell, Nicolino Ruperto   +52 more
wiley   +1 more source

Prophylaxis in congenital factor VII deficiency: indications, efficacy and safety. Results from the Seven Treatment Evaluation Registry (STER)

Haematologica, 2013
Because of the very short half-life of factor VII, prophylaxis in factor VII deficiency is considered a difficult endeavor. The clinical efficacy and safety of prophylactic regimens, and indications for their use, were evaluated in factor VII-deficient ...
Mariasanta Napolitano, Muriel Giansily-Blaizot, Alberto Dolce, Jean F. Schved, Guenter Auerswald, Jørgen Ingerslev, Jens Bjerre, Carmen Altisent, Pimlak Charoenkwan, Lisa Michaels, Ampaiwan Chuansumrit, Giovanni Di Minno, Ümran Caliskan, Guglielmo Mariani   +13 more
doaj   +1 more source

Evaluating discrepancies between high‐yield neuroscience conditions in preclerkship medical education and national clinical incidence

Anatomical Sciences Education, EarlyView.
Abstract Medical education must balance foundational science with clinical relevance. Increasing emphasis on standardized assessments has led to prioritization of “high‐yield” conditions—those most likely to be assessed. Subsequently, educators and students often prioritize these conditions.
Kathryn Veazey, Oheneba Boadum
wiley   +1 more source