Results 81 to 90 of about 409,422 (304)

Myotonic diseases since Asmus Julius Thomas Thomsen (1815–1896) and Peter Emil Becker (1908–2000) [PDF]

Proceedings of the Royal Society of Victoria, 2015
Julius Thomsen first published his account of myotonia (an unusual muscle stiffness disorder) in himself and his family in 1876. By November 1971, Peter Becker was already famous for his eponymous Becker muscular dystrophy when he came to the Second International Congress on Muscle Diseases, in Perth. There, he presented an extensive study of myotonia,
openaire   +2 more sources

Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2‐developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Overview of the multimodal experimental approach integrating clinical, genetic, in silico, and in vitro investigations. Clinical: Representative EEG recording setup and ictal traces from affected patients. Genetic: Pedigrees for Families A and B highlighting the inheritance of the four identified SLC12A5 variants (A1, A2, B1, B2).
Mira Hamze, Robyn Whitney, Dorothée Ville, Nathalie Villeneuve, Anna‐Maria Hartmann, Lisa Becker, Jens Hausmann, Jinwei Zhang, Cathy Brier, Lucie I. Pisella, Perrine Friedel, Audrey Labalme, Eudeline Alix, Nicolas Chatron, Damien Sanlaville, Sylvie Gory‐Fauré, Eric Denarier, Christophe Porcher, Gaetan Lesca, Igor Medina   +19 more
wiley   +1 more source

Amyloid positron emission tomography candidates may focus more on benefits than risks of results disclosure [PDF]

, 2018
IntroductionGiven mounting calls to disclose biomarker test results to research participants, we explored factors underlying decisions by patients with mild cognitive impairment to receive amyloid imaging results.MethodsProspective, qualitative ...
Hu, Lu, Kim, Hyejin, Lingler, Jennifer H, Lopez, Oscar L, Mattos, Meghan, McDade, Eric, Morris, Jonna L, Rorberts, J. Scott   +7 more
core   +2 more sources

Factors Affecting the Appropriate Angiography Prescription in Iranian Hospitals

Health Care Science, EarlyView.
Graphical Abstract Factors influencing appropriate angiography prescriptions. ABSTRACT Background Inappropriate angiography prescriptions impose substantial financial and clinical burdens on healthcare systems. This study aimed to develop a comprehensive model for appropriate angiography prescription by examining supply‐and demand‐side factors in ...
Atieh Sadat Bigdeli, Leila Riahi, Fakhreddin Hejazi, Aniseh Nik Ravan   +3 more
wiley   +1 more source

Environmental enteric dysfunction and the fecal microbiota in malawian children [PDF]

, 2017
Environmental enteric dysfunction (EED) is often measured with a dual sugar absorption test and implicated as a causative factor in childhood stunting.
Agapova, Sophia, Maleta, Ken, Manary, Mark J, Martin, John, Ordiz, M. Isabel, Stephenson, Kevin, Trehan, Indi, Washington University School of Medicine in St. Louis, Wylie, Kristine M   +8 more
core   +2 more sources

Understanding Substance Use and Suicide Risk Among LGBTQ+ College Students Post‐COVID‐19

Journal of Addictions &Offender Counseling, EarlyView.
ABSTRACT This study examines the reported frequency of substance use, levels of suicide risk, and their relationships among LGBTQ+ college students (N = 192) following the COVID‐19 pandemic. Participants most commonly reported alcohol and marijuana use, and least commonly reported unprescribed prescription opioid or heroin use.
Afroze N. Shaikh, Jordan B. Westcott, Brittney N. R. Irion, Jackie Yang, Illiana R. Navarra‐Bueno, Hannah Martinson, Noah Diaz   +6 more
wiley   +1 more source

Robotic partial nephrectomy for posterior tumors through a retroperitoneal approach offers decreased length of stay compared with the transperitoneal approach: A propensity-matched analysis [PDF]

, 2017
INTRODUCTION: We sought to compare surgical outcomes between transperitoneal and retroperitoneal robotic partial nephrectomy (RPN) for posterior tumors.
Allaf, Mohamad E, Bhayani, Sam B, Kaouk, Jihad H, Maurice, Matthew J, Ramirez, Daniel, Rogers, Craig G, Stifelman, Michael D   +6 more
core   +2 more sources

Positive developmental cascades: Strength development reduces support needs in children

JCPP Advances, EarlyView.
Abstract Background Strength development in children across a range of psychiatric diagnoses may reduce needs for mental health, social, and functioning support over time. A strength‐based adjunct to child and adolescent mental health may foster the developmental context most helpful for achieving desired outcomes with positive developmental cascading ...
Melody R. Altschuler, Xiaoran Tong, Punit Shah, Edelyn Verona, Julianne M. Bowling, Robert F. Krueger, Roman Kotov, Jordan H. McAllister, Michaela Voit, Sachina Paudel, Scott C. Leon, Shashwat Kala, John S. Lyons   +12 more
wiley   +1 more source

Until programmed death do us tolerant

The Journal of Clinical Investigation, 2022
Healthy individuals are generally immunologically tolerant to proteins derived from one’s self (termed self proteins). However, patients with monogenic clotting disorders, like hemophilia A (HemA), lack central tolerance to the absent self protein. Thus,
David W. Scott
doaj   +1 more source

How Well Do CMIP6 Models Simulate the Influence of the West African Westerly Jet on Sahel Precipitation?

International Journal of Climatology, EarlyView.
Climate models generally reproduce the WAWJ and August peak but simulate its onset prematurely and too strongly relative to ERA5. CMIP6 simulations struggle to reproduce the jet–precipitation relationship in the Sahel and underrepresent associated moisture transports.
Akintunde I. Makinde, Babatunde J. Abiodun, Rachel James, Richard Washington, Ellen Dyer, Tom Webb   +5 more
wiley   +1 more source