Results 31 to 40 of about 2,969 (179)

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao, Andrew P. Fennell, Tanavi Sharma, Katrina M. Bell, Monique Dunstan, Sebastian Lunke, Meagan J. McGrath, Catriona McLean, Undiagnosed Diseases Network (UDN‐Aus), Alison Yeung, Anna Hackett, Anne Baxter, Ansley Morrish, Ashil Davawala, Azure Hermes, Ben Kamien, Ben Lundie, Carolyn Ellaway, Carolyn Shalhoub, Cas Simons, Cassandra Gray, Cathryn Poulton, Chloe Cunningham, Chris Barnett, Chris Richmond, Christopher Richards, Daniel MacArthur, Daniel Pavlic, Daniella Hock, Daniz Kooshavar, David Amor, David Mowat, Edward Formaini, Elaine Zhang, Ella Wilkins, Ella Zurita, Ellenore Martin, Elly Lynch, Emma Krzesinski, Emma Palmer, Esther Pierini, Evanthia O. Madelli, Francisco Santos Gonzalez, Gareth Baynam, Gunjan Garg, Hamish Scott, Hannah Thomson, Himanshu Goel, Ilias Goranitis, Ira Deveson, Isabella Pfundt, Jacqui Russell, Janine Smith, Jason Pinner, Julia Broadbent, Julie McGaughran, Karin Kassahn, Katherine Lewis, Kaustuv Bhattacharya, Kirsten Boggs, Kirsty West, Kristi Jones, Laura Wedd, Lauren Dreyer, Leah Frajman, Leanne Baxter, Lilian Downie, Lily Loughman, Lisa Bristowe, Lisa Ewans, Louise Cilento, Lucy Kevin, Lyndal Douglas, Madeleine Harris, Maie Walsh, Manisha Chauhan, Margit Shah, Martin Delatycki, Mathew Wallis, Matthew Hunter, Megan Ball, Megan Higgins, Meutia Kumaheri, Michael Fahey, Mike Field, Mohammadreza Hajjari, Natalie Stewart, Natalie Tan, Natasha Brown, Nicole Van Bergen, Noelia Nunez‐Martinez, Oliver Heath, Rachel Austin, Rani Sachdev, Rebecca Macintosh, Rebecca Vink, Rocio Rius, Ruvi Samarasekera, Ryan Pysar, Sandra Cooper, Sarah Casauria, Sarah Collinson, Sarah Jelenich, Sarah Josephi‐Taylor, Sarah Sandaradura, Sean Massey, Shannon Leblanc, Shuxiang Goh, Simon Bodek, Simon Sadedin, Simran Kaur, Smitha Kumble, Sue White, Suzanne Sallevelt, Tegan Stait, Tiffany Boughtwood, Tim Sikora, Timo Lassmann, Tiong Tan, Tracy Dudding, David R. Thorburn, David A. Stroud, John Christodoulou   +122 more
wiley   +1 more source

Fournier’S Gangrene Caused by Listeria Monocytogenes as the Primary Organism

Canadian Journal of Infectious Diseases and Medical Microbiology, 2015
A 70-year-old man with a history of tongue cancer presented with Fournier’s gangrene caused by Listeria monocytogenes serotype 4b. Surgical debridement revealed undiagnosed rectal adenocarcinoma.
Sayaka Asahata, Yuji Hirai, Yusuke Ainoda, Takahiro Fujita, Yumiko Okada, Ken Kikuchi   +5 more
doaj   +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

Catfish sashimi, A novel cause of food-borne Plesiomonas infection: A case report

Heliyon
Plesiomonas shigelloides, a gram-negative bacillus found in freshwater, can cause gastroenteritis in humans. We report the case of a 43-year-old Japanese man who developed enteritis as a result of Plesiomonas and Campylobacter co-infection after eating ...
Nobumasa Okumura, Yusuke Yokoi, Nana Akazawa-Kai, Naoya Itoh   +3 more
doaj   +1 more source

Pontos críticos de controle na qualidade higiênico-sanitária do preparo de sushis e sashimis no município de São Vicente, São Paulo

Revista Segurança Alimentar e Nutricional, 2015
Este estudo objetivou propor um plano de Análise dos Perigos e Pontos Críticos (APPCC) de controle na produção de sushis e sashimis. Trata-se de um estudo descritivo realizado em um restaurante japonês em São Vicente – SP, em 2007.
Bárbara Grassi Prado, Juliana Elen Iwatani, Mariana Rotta Pereira, Andréa Pittelli Boiago Gollucke, Luciana Passos Toledo   +4 more
doaj   +1 more source

Epidemiological Survey and Genomic Insights Into Ostreid Herpesvirus 1 Transmission in the Blood Clam Anadara broughtonii in China (2019–2025)

Animal Research and One Health, EarlyView.
Seven‐year surveillance reveals a cold‐adapted OsHV‐1 lineage in blood clams, with disease onset at 13°C—3–5°C lower than in oysters—and identifies asymptomatic carriers and facility effluent as key transmission routes. ABSTRACT Ostreid herpesvirus 1 (OsHV‐1) poses a major threat to bivalve aquaculture, but its impact on blood clams (Anadara ...
Xiang Zhang, Bowen Huang, Tao Yu, Jingli Wang, Maole Wei, Huigang Kang, Chongming Wang, Changming Bai   +7 more
wiley   +1 more source

Anticancer and Anti-Neuroinflammatory Constituents Isolated from the Roots of Wasabia japonica

Antioxidants, 2022
Wasabi (Wasabia japonica (Miq.) Matsum.) is a pungent spice commonly consumed with sushi and sashimi. From the roots of this plant, a new 2-butenolide derivative (1) and 17 previously reported compounds (2–18) were isolated and structurally characterized.
Jong Eel Park, Tae Hyun Lee, Song Lim Ham, Lalita Subedi, Seong Min Hong, Sun Yeou Kim, Sang Un Choi, Chung Sub Kim, Kang Ro Lee   +8 more
doaj   +1 more source

Photo Quiz: A Man with Chest Pain and a History of Eating Sashimi [PDF]

Journal of Clinical Microbiology, 2014
A 31-year-old man, a native of the coastal city of Weihai, Shandong Province, China, had visited our clinic for 2 years because of chest pain, cough, and occasional bloody sputa. The onset of the symptoms was abrupt, with no apparent predisposing factors.
Yan, Chen, Haidong, Huang, Daoyin, Zhou, Yanghua, Qin   +3 more
openaire   +2 more sources

Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi‐omics

Movement Disorders, EarlyView.
Abstract Background Long‐read sequencing and multi‐omic analytical frameworks are increasingly being adopted in rare disease diagnostics. However, clinical workflows comprehensively integrating these methodologies remain uncommon. Objective This study aimed to assess the potential and limitations of integrating long‐read genomic, transcriptomic, and ...
Ugo Sorrentino, Melanie Brugger, Alice Saparov, Ivana Dzinovic, Philip Harrer, Sandy Lösecke, Kevork Derderian, Martin Pavlov, Robert Kopajtich, Holger Prokisch, Arcangela Iuso, Maria Mazurkiewicz‐Bełdzińska, Deike Weiss, Christina Ludwig, Miriam Abele, Julia Mergner, Juliane Winkelmann, Theresa Brunet, Michał Schinwelski, Elisabeth Graf, Katja Kloth‐Stachnau, Theresia Herget, Magdalena Krygier, Michael Zech   +23 more
wiley   +1 more source

Avaliação microbiológica de sushi e sashimi preparados em restaurantes especializados

Revista de Ciências Agroveterinárias, 2019
O objetivo foi avaliar o padrão microbiológico de sushis e sashimis de salmão comercializados em restaurantes especializados situados na cidade de Pelotas, Rio Grande do Sul.
Thamíris Pereira de Moraes, Fernanda Moreira Darley, Cláudio Dias Timm   +2 more
doaj   +1 more source