Results 61 to 70 of about 73,857 (258)

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Arthroscopic Technique for Posterior Labral Repair in the Beach‐Chair Position

Arthroscopy Techniques, EarlyView.
Abstract Posterior labral repair is commonly performed in the lateral decubitus position; however, comparable outcomes have been reported using the beach‐chair position. Limited visualization of the posterior‐inferior glenoid remains a perceived disadvantage of the beach‐chair setup.
Saad M. AlQahtani, Victor A. Pacheco, Adeeba A. AlBadran   +2 more
wiley   +1 more source

Hypothermia amongst neonatal admissions in Kenya: a retrospective cohort study assessing prevalence, trends, associated factors, and its relationship with all-cause neonatal mortality

Frontiers in Pediatrics
BackgroundReports on hypothermia from high-burden countries like Kenya amongst sick newborns often include few centers or relatively small sample sizes.ObjectivesThis study endeavored to describe: (i) the burden of hypothermia on admission across 21 ...
John Wainaina, Morris Ogero, Livingstone Mumelo, Kefa Wairoto, George Mbevi, Timothy Tuti, Paul Mwaniki, Grace Irimu, Grace Irimu, Mike English, Mike English, Jalemba Aluvaala, Jalemba Aluvaala, The Clinical Information Network Author Group, Dolphine Mochache, Juma Vitalis, Nyumbile Bonface, Christine Manyasi, Caren Emadau, Charles Nzioki, Wagura Mwangi, Magdalene Kuria, Esther Njiru, Penina Mwangi, Rachel Inginia, Emma Namulala, Grace Ochieng, Lydia Thuranira, Felistus Makokha, Josephine Ojigo, Beth Maina, Bernadette Lusweti, Amilia Ngoda, Dolphine Mochache, Jane Mbungu, Joan Baswetty, Josephine Aritho, Beatrice Njambi, Zainab Kioni, Lucy Kinyua, Alice Oguda, Loise N. Mwangi, Nancy Mburu, Celestine Muteshi, Salome Okisa Muyale, Faith Mueni, Rosemary Mututa, Joyce Oketch, Orina Nyakina, Faith Njeru, Margaret Wanjiku Mwaura, Seline Kulubi, Susan Wanjala, Pauline Njeru, John Ollongo, Samuel Soita, Mary Nguri, Margaret Waweru, Otieno George Obop, Jeska Kuya, Esther Muthiani, Esther Mwangi, Joseph Ng’ang’a, Benjamin Tanui, Alfred Wanjau, Judith Onsongo, Peter Muigai, Arnest Namayi   +67 more
doaj   +1 more source

Model‐Enabled Knowledge Transfer Across Cell Lines, Culture Scales and Conditions

Biotechnology and Bioengineering, EarlyView.
ABSTRACT Mechanistic models are central to quantitative understanding and optimization of Chinese hamster ovary (CHO) cell culture processes, but their utility is often restricted by parameter sets calibrated for specific cell lines, scales, or operating conditions.
Luxi Yu, Antonio del Rio Chanona, Cleo Kontoravdi   +2 more
wiley   +1 more source

Host Cell Protein Challenges in Antibody Processing: Insights Into Persistence and Mitigation Strategies

Biotechnology and Bioengineering, EarlyView.
ABSTRACT Persistence of HCPs remains a major purification challenge in biopharmaceutical manufacturing with direct consequences for product quality, patient safety, and regulatory compliance. Over the last two decades, deeper insights into the mechanisms driving HCP persistence have clarified why certain proteins evade removal during purification ...
Younghoon Oh, Andrew Cooke, Harshal Soni, Susan Liu, Mamadou Bah, Brianna Bellis, Laura Smith, Michael Capaldi, Nicholas Levy, Erik Wilhelm, Kristopher Barnthouse   +10 more
wiley   +1 more source

HYPOTHERMIA [PDF]

British Journal of Anaesthesia, 1954
  +9 more sources

Perioperative Neuroprotection with Systemic Hypothermia During Carotid Endarterectomy

Общая реаниматология
Prevention of brain injury during carotid endarterectomy (CEA) remains a significant challenge. Moderate controlled systemic hypothermia may serve as a potential neuroprotective measure during these procedures.Aim of the study.
Alexey A. Syrovatsky, Ionas S. Simutis, Alexey V. Svetlikov, Konstantin M. Lebedinsky, Alexey N. Shcheglov, Vyacheslav A. Ratnikov, Daria E. Reznichek, Evgenia V. Khaldina   +7 more
doaj   +1 more source

Akt1-mediated CPR cooling protection targets regulators of metabolism, inflammation and contractile function in mouse cardiac arrest.

PLoS ONE, 2019
Therapeutic hypothermia initiated during cardiopulmonary resuscitation (CPR) in pre-clinical studies appears to be highly protective against sudden cardiac arrest injury.
Jing Li, Xiangdong Zhu, Huashan Wang, Chunpei Lee, Sy-Jou Chen, Yuanyu Qian, Mei Han, Ryan Bunney, David G Beiser, Terry L Vanden Hoek   +9 more
doaj   +1 more source

A contemporary simple risk score for prediction of severe acute kidney injury after heart transplantation

ESC Heart Failure, Volume 12, Issue 2, Page 1166-1175, April 2025.
A contemporary simple risk score for prediction of severe AKI after HT. Abstract Background The aim of this study was to develop a simple risk score to estimate severe acute kidney injury (AKI) risk based on a large contemporary heart transplantation (HT) cohort.
Shuangshuang Zhu, Weihua Qiao, Yixuan Wang, Ying Zhou, Yin Xu, Shijie Wang, Tian Xia, Guohua Wang, Si Chen, Jiawei Shi, Nianguo Dong   +10 more
wiley   +1 more source