Results 161 to 170 of about 2,319,329 (254)

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

Chemoenzymatic Synthesis of 6‐Sulfo Sialyl Lewisx Containing Glycans to Probe the Receptor Specificity of MERS Coronavirus

Angewandte Chemie, EarlyView.
A chemoenzymatic methodology is described that provided a panel of 6‐sulfo sialyl Lewisx‐containing glycans that were probed for receptor specificity of MERS‐CoV. Although the fucoside of 6‐sulfo‐SLex does not directly interact with the spike, it pre‐organizes the molecule into a conformation to allow a salt bridge between the sulfate and the ...
Yunfei Wu, Anne L.M. Kimpel, Jacobus P. van Trijp, Elif Uslu, Gaёl M. Vos, Luca Unione, Robert P. de Vries, Geert‐Jan Boons   +7 more
wiley   +2 more sources

Biphasic Pulmonary Blastoma: A Rare Tumor With Fatal Outcome-First Reported Case From Lebanon. [PDF]

Clin Case Rep
Chahrour H, Nammour G, Akiki JA, Abbas MH, Hamadeh W.   +4 more
europepmc   +1 more source

Identifying the Service Requirements for Primary Sexual Assault Medical Care and Forensic Evidence Collection in a Remote First Nations Community

Australian Journal of Social Issues, EarlyView.
ABSTRACT First Nations female sexual assault survivors in remote Northern Territory (NT) face significant barriers accessing place‐based medical care and forensic evidence collection, subsequently requiring evacuation to specialist services. Using decolonising Participatory Action Research methods, this study identified the workforce, training, and ...
Theresa Clasquin, Rachel Dikul Baker, Rosemary Gundjarranbuy, Annie Whybourne, Sue Kildea, Sue Kruske, Elaine Ḻäwurrpa Maypilama, Sarah Ireland   +7 more
wiley   +1 more source

A Case of Thyroid Storm With Fatal Outcome due to Liver Failure. [PDF]

Case Rep Pathol
Suzuki K, Makiuchi S, Kishida Y.
europepmc   +1 more source

Blood SOD1 Activity in ALS Patients Receiving Tofersen Treatment

Annals of Neurology, EarlyView.
Objective The antisense oligonucleotide tofersen is the first disease‐modifying drug for SOD1‐related amyotrophic lateral sclerosis (ALS) and was approved because of its ability to reduce SOD1 protein and neurofilament levels. The effect of tofersen on SOD1 activity is unclear but of clinical relevance because homozygous SOD1 mutations, linked to ...
Katharina Goehring, Enya Abler, Jakub Vavra, Kristina Mayer, Johannes Dorst, Zeynep Elmas, Maximilian Wiesenfarth, Lars Richter, Susanne Petri, Martin Regensburger, Peter Reilich, Bogdan Bjelica, Rea Lumi, Patrick Süß, Hayrettin Tumani, Markus Otto, Jochen H. Weishaupt, Albert C. Ludolph, Patrick Oeckl   +18 more
wiley   +1 more source

Cutaneous Extramedullary Hematopoiesis in Primary Myelofibrosis: A Case Report With Rapidly Fatal Outcome. [PDF]

Cureus
El Bouhmadi A, Baghad B, Rachadi H, Benhayoun FZ, Chiheb S.   +4 more
europepmc   +1 more source

Rate and Shape of Functional Decline in Amyotrophic Lateral Sclerosis Identify Clinically Distinct Amyotrophic Lateral Sclerosis Phenotypes

Annals of Neurology, EarlyView.
Objective The ALS Functional Rating Scale–Revised decline rate compresses trajectory shape into a single number, potentially missing distinct phenotypes. We tested whether shape identifies phenotypes that rate does not distinguish, and whether post‐hoc analysis recovers a hidden ultrarapid subgroup. Methods From the Piemonte and Valle d'Aosta register (
Andrea Calvo, Cristina Moglia, Antonio Canosa, Umberto Manera, Elisabetta Zucchi, Giulia Gianferrari, Ilaria Martinelli, Gabriele Mora, Sara Cabras, Francesca Palumbo, Enrico Matteoni, Giorgio Pellegrino, Emilio Minerva, Daniela Pascariu, Stefano Callegaro, Fabrizio D'Ovidio, Rosario Vasta, Letizia Mazzini, Fabiola De Marchi, Jessica Mandrioli, Adriano Chiò   +20 more
wiley   +1 more source

Case report end-stage cystic fibrosis with fatal outcome in two siblings from a Chinese family: a 15-year diagnostic odyssey. [PDF]

Front Pharmacol
Shen Y, Chen Q, Yang H.
europepmc   +1 more source

Novel Interdigitated Electrode Conductometric Sensor for Rapid, Sensitive, and Selective Detection of cTnI Biomarkers in Saliva

Advanced NanoBiomed Research, EarlyView.
A miniaturized high resistivity silicon‐based interdigitated conductometric sensor detects cTnI at sub‐femtomolar levels with high selectivity. The device enables noninvasive testing using artificial and pooled human saliva in real‐time electrical readings. This portable biosensor offers a promising futuristic medical device providing new opportunities
Preethi Chidambaram, Fateme Akhlaghi Bagherjeri, Ganganath S. Perera, Rajour Tanyi Ako, Sreekanth S. P, Chenglong Xu, Sharath Sriram, Shanmuga Sundar Dhanabalan, Madhu Bhaskaran   +8 more
wiley   +1 more source