Results 111 to 120 of about 949,474 (217)

Defining fever-related discomfort in children: an international Delphi consensus. [PDF]

Eur J Pediatr
Milani GP, Purssell E, Martin D, Corrard F, Tan E, Sullivan JE, de Bont EGPM, Mintegi S, Bianchetti MG, Lava SAG, Chiappini E.   +10 more
europepmc   +1 more source

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad, Emily Waskow, Hari Tunuguntla, Joseph Spinner, Hanna J. Tadros, Lisa T. Emrick, Daniel G. Calame, Fernando Scaglia   +7 more
wiley   +1 more source

Inappropriate Antimicrobial Regimen Leading to Recurrent <i>Listeria monocytogenes</i> Meningitis: A PK/PD-Based Case Analysis and a Literature Review. [PDF]

Infect Drug Resist
Zhang K, Xu L, Zhang Y, Xu P.
europepmc   +1 more source

Exome Sequencing Uncovers Phenotypic and Genotypic Heterogeneity in 196 Indian Families Evaluated for Autoinflammatory Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autoinflammatory disorders (AIDs) are a clinically heterogeneous group of inborn errors of immunity primarily caused by dysregulation in the innate immune system. Clinical diagnosis is often challenging due to clinical heterogeneity and the overlapping phenotypes with other inborn errors of immunity and monogenic conditions that mimic AIDs ...
Vaishnavi Ashok Badiger, Periyasamy Radhakrishnan, Suma Balan, Anand P. Rao, Prajna Udupa, Karthik Vijay Nair, Bhagesh Hunakunti, Adarsh Pooradan Prasannakumar, Sanket Limaye, Huzail Gani Shaikh, Rohit Naik, Mahesh Janarthanan, Sudharshan Sridharan, Vishal Sondhi, Sheela Nampoothiri, Hitesh Shah, Sabrinath Mahadevan, Mahabaleshwar Mamadapur, Devang Pandya, Katta Mohan Girisha, Abhay Shivpuri, Amita Moirangthem, Jyothi Raghuram, Gandham Sri Lakshmi Bhavani, Sachin Jeevanagi, Girish Subramaniam, Amita Aggarwal, Anju Shukla, Dhanya Lakshmi Narayanan   +28 more
wiley   +1 more source

What is the best way to diagnose Dengue haemorrhagic fever early? Routine application of ultrasound for early detection of Dengue haemorrhagic fever

International Journal of Infectious Diseases, 2020
L. Fernando, H. Wijesinghe, A. Pathmeswaran, D. Silva, M. Kumarihamy, T. Silva, R. Jayasuriya, D. Peiris, N. Jayasinghe, T. Somaratne   +9 more
doaj   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Decoding clinical heterogeneity and age-related coronary risk in incomplete Kawasaki disease: a multicenter cluster analysis and structural equation modeling study. [PDF]

Front Immunol
Liu C, Liu D, Li B, Xu Y, Tan Z, Chen O, Yang Y, Si F, Jiang W, Yi Q, Jing F.   +10 more
europepmc   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Tezepelumab in Chinese Patients With Severe Chronic Rhinosinusitis With Nasal Polyps: A Prespecified Subgroup Analysis of the Phase 3 WAYPOINT Trial

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis with nasal polyps (CRSwNP) in Chinese patients often exhibits a mixed Type 1/2/3 inflammatory phenotype (63%), potentially impacting the efficacy of biologics targeting Type 2 inflammation. This prespecified subgroup analysis of WAYPOINT (NCT04851964) evaluated the efficacy and safety of tezepelumab in Chinese
Li Hu, Houyong Li, Xicai Sun, Quan Liu, Yu Xu, Jiangang Fan, Andrew Foster, Claudia Chen, Yun Chon, Dehui Wang   +9 more
wiley   +1 more source

Structure and Function of a Multi‐Megadalton Virus‐Like Proteolytic Dodecahedron

Angewandte Chemie, EarlyView.
Zuzalysin, a virulence metallopeptidase of the periodontal pathogen Porphyromonas gingivalis, is secreted as a latent, flexible ≈95‐kDa monomer. Calcium triggers cysteine‐switch activation and hierarchical assembly into pentamers, bipentamers, tripentamers, and a ≈5.6‐MDa, ≈355‐Å dodecahedron. Structures at 1.8–3.6 Å reveal a virus‐sized catalytic cage
Mariusz Madej, Arturo Rodríguez‐Banqueri, Danuta Mizgalska, Borys Szmigielski, Zuzanna Nowakowska, Małgorzata Benedyk‐Machaczka, Monika Bzowska, Katarzyna Mikruta, Juan Sebastián Ramírez‐Larrota, Chinanu Agunanne, Olivier Julien, Anthony J. O'Donoghue, Carsten Scavenius, Mario López‐Martín, Enrique Marcos, Łukasz Koziej, Sebastian Glatt, Pablo Guerra, Ulrich Eckhard, Jan Potempa, F. Xavier Gomis‐Rüth   +20 more
wiley   +2 more sources