Results 181 to 190 of about 885,071 (345)

Hereditary Multiple Osteochondromas and Acute Lymphoblastic Leukemia: A Possible Role for EXT1 and EXT2 in Hematopoietic Malignancies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hereditary multiple osteochondromas (HMO) is an autosomal dominant disorder caused by heterozygous deleterious variants in the EXT1 or EXT2 genes. While the clinical core phenotype is well established and mainly consists of bone deformities, limb length discrepancies, multiple benign bone neoplasms, and increased risk of chondrosarcoma, the ...
Francesco Comisi, Carmela Fusco, Rosamaria Mura, Carla Cerruto, Leonardo D'Agruma, Salvatore Carnazzo, Marco Castori, Salvatore Savasta   +7 more
wiley   +1 more source

COVID‐19 and myasthenia gravis: A review of neurological implications of the SARS‐COV‐2

Brain and Behavior, Volume 12, Issue 12, December 2022., 2022
Abstract Introduction This review highlights the potential mechanisms of neuromuscular manifestation of COVID‐19, especially myasthenia gravis (MG). Methods An extensive literature search was conducted by two independent investigators using PubMed/MEDLINE and Google Scholar from its inception to December 2020. Results Exacerbations of clinical symptoms
Syed Muhammad Ismail Shah, Farah Yasmin, Roha Saeed Memon, Nadia Nazir Jatoi, Ilma Saleh Savul, Sana Kazmi, Syed Abdullah Monawwer, Muhammad Daim Bin Zafar, Muhammad Sohaib Asghar, Muhammad Junaid Tahir, Ka Yiu Lee   +10 more
wiley   +1 more source

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

Sintilimab versus docetaxel as second‐line treatment in advanced or metastatic squamous non‐small‐cell lung cancer: an open‐label, randomized controlled phase 3 trial (ORIENT‐3)

Cancer Communications, Volume 42, Issue 12, Page 1314-1330, December 2022., 2022
Abstract Background Treatment options for Chinese patients with locally advanced or metastatic squamous‐cell non‐small‐cell lung cancer (sqNSCLC) after failure of first‐line chemotherapy are limited. This study (ORIENT‐3) aimed to evaluate the efficacy and safety of sintilimab versus docetaxel as second‐line treatment in patients with locally advanced ...
Yuankai Shi, Lin Wu, Xinmin Yu, Puyuan Xing, Yan Wang, Jianying Zhou, Airong Wang, Jianhua Shi, Yi Hu, Ziping Wang, Guangyu An, Yong Fang, Sanyuan Sun, Caicun Zhou, Changli Wang, Feng Ye, Xingya Li, Junye Wang, Mengzhao Wang, Yunpeng Liu, Yanqiu Zhao, Ying Yuan, Jifeng Feng, Zhendong Chen, Jindong Shi, Tao Sun, Gang Wu, Yongqian Shu, Qisen Guo, Yi Zhang, Yong Song, Shucai Zhang, Yuan Chen, Wei Li, Hongrui Niu, Wenwei Hu, Lijun Wang, Jianan Huang, Yang Zhang, Ying Cheng, Zhengdong Wu, Bo Peng, Jiya Sun, Christoph Mancao, Yanqi Wang, Luyao Sun   +45 more
wiley   +1 more source

Pseudothrombocytopenia due to Phagocytosis of Platelets by Polymorphonuclear Leukocytes

American Journal of Hematology, EarlyView.
Iliana Stamatiou, Zoe Bezirgiannidou, Evangelia Charitaki, Ioannis Kotsianidis, Konstantinos Liapis   +4 more
wiley   +1 more source

Machine learning-based algorithms for at-home respiratory disease monitoring and respiratory assessment [PDF]

arXiv
Respiratory diseases impose a significant burden on global health, with current diagnostic and management practices primarily reliant on specialist clinical testing. This work aims to develop machine learning-based algorithms to facilitate at-home respiratory disease monitoring and assessment for patients undergoing continuous positive airway pressure (
arxiv  

EXPERIMENTAL STUDIES ON IMMUNOPATHOLOGY OF DISEASES OF RESPIRATORY TRACT

, 1971
Keisuke Shimizu, I Mochizuki, Tadamasa Tozuka, Shozo Kusama, Kenjiro Handa, Haruo SUZAWA   +5 more
openalex   +2 more sources

Persistent Eosinophilic Inflammation Is Not a Feature of Type 2 CRS Patients Failing Anti‐IL‐5R Therapy and Requiring Class Switching to Anti‐IL‐4/13

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Type 2 inflammation dominates eosinophilic chronic rhinosinusitis (eCRS) and adult onset asthma. IL‐4, ‐5, and ‐13 are prominent disease mediators. Disease control can be achieved with biologic therapies. However, despite some patients entering remission, others experience poor control. Aim We aimed to describe eCRS patients treated
Peta‐Lee Sacks, Christian M Meerwein, Peter Earls, Cedric Thiel, Christine Choy, Raewyn G Campbell, Raymond Sacks, Larry Kalish, Richard J Harvey   +8 more
wiley   +1 more source

The Release of Leukotrienes in the Respiratory Tract during Infection with Respiratory Syncytial Virus: Role in Obstructive Airway Disease

, 1988
Benjamin Volovitz, Charles Welliver, Giovanna De Castro, D Krystofik, Pearay L. Ogra   +4 more
openalex   +1 more source

Antibody Response to Mannheimia Haemolytica Leukotoxin in Cattle with Respiratory Tract Disease [PDF]

, 2007
S. Cavirani, Simone Taddei, Clotilde Silvia Cabassi, F. Ghidini, C. Piancastelli, C. F. Flammini   +5 more
  +4 more sources