Results 91 to 100 of about 93,849 (210)

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

A Global Prospective Harmonization Framework for Suicidality, Anhedonia, and Obsessive‐Compulsive Symptoms in Psychiatric Genetic Studies: A Cross‐Continental Study Within the Ancestral Population Network

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT This study aims to prospectively collect harmonized, quantitative, and dimensional psychiatric phenotypes (suicidality, anhedonia, and obsessive‐compulsive symptoms) and information on discrimination, stigma, and unfair treatment in up to 27,500 individuals across diverse ancestries and clinical populations for genetic analysis within the NIMH
Ana M. Diaz‐Zuluaga, Jacey L. Anderberg, Ana M. Ramirez‐Diaz, Andrea Horvath Marques, Catherine E. Rast, Daniel Bustamante, Deborah Jonker, Johanna Valencia‐Echeverry, Joseph Kyebuzibwa, Josselyn S. Muñoz, Kristien van der Walt, Mauricio Castaño Ramirez, Olivia Wootton, Renee M. Frederick, Rocky E. Stroud II, Ruben Gur, Sang Jin Rhee, Shaili C. Jha, Stella Gichuru, Susan Service, Victor I. Reus, Akena Dickens, Carlos Lopez‐Jaramillo, Carrie E. Bearden, Dan J. Stein, Ezra S. Susser, James J. Crowley, Jonathan Flint, Kenneth S. Kendler, Lukoye Atwoli, Michele T. Pato, Nelson B. Freimer, Roel A. Ophoff, Yong Min Ahn, Loes Olde Loohuis, Eric A. Storch, Bizu Gelaye   +36 more
wiley   +1 more source

Synthesis and Interfacial Behavior of Mixed Potassium N‐Lauroyl/N‐Myristoyl Glycinate Surfactants With Varying Alkyl Chain Ratios

Asia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT Biodegradable and low‐irritant amino acid–based surfactants have attracted considerable attention as environmentally friendly alternatives to conventional petroleum‐derived surfactants. In this study, a series of acyl amino acid surfactants with identical amino acid head groups but different alkyl chain lengths were synthesized via a modified ...
Toshihiro Takeshita, Tanjina Sharmin, Atsuki Nishihara, Sihyung Kim, Kazusa Mishima, Sahena Ferdosh, Agus Saptoro, Hussein Znad, Zaidul Islam Sarker, Kai Bin Liew, Mikio Ouchi, Kenji Mishima   +11 more
wiley   +1 more source

“Access to pharmacy services is difficult in China”: a qualitative study from the perspective of transplant recipients to explore their expectations

BMC Health Services Research
Purpose To gain an in-depth and comprehensive understanding of Chinese organ transplant recipients’ perceptions, expectations, and suggestions of pharmacy services to hospital pharmacists.
Zhao Yin, Wan Zhang, Xuedong Jia, Xi Yang, Wenzhi Guo, Hang Fu, Shuzhang Du, Xiaojian Zhang, Fangying Si, Jun Li   +9 more
doaj   +1 more source

Mitigating Teclistamab Toxicity: Prophylactic Tocilizumab and Timing of Immunoglobulin Replacement Therapy in a Nationwide Cohort

American Journal of Hematology, EarlyView.
Astrid Hundebøll Torpe, Jonathan Thorsen, Gustav Mathiasen, Katrine Fladeland Iversen, Sarah Farmer, Thomas Lund, Charlotte Toftmann Hansen, Lene Kongsgaard Nielsen, Nicolai Grønne Dahlager Jørgensen, Maja Ølholm Vase, Elena Manuela Teodorescu, Morten Salomo, Christina Wennerström, Tobias S. Slørdahl, Agoston Gyula Szabo   +14 more
wiley   +1 more source

Historical birth records from 1896 to 1944 from the Basel maternity hospital, Switzerland, reveal significant obstetric selection pressures

The Anatomical Record, EarlyView.
Abstract Maternal and neonatal morbidity and mortality have declined dramatically during the last century. Historical data are therefore important sources to study the evolutionary selection pressures related to childbirth and how they have fluctuated over time.
Mirella Woodert, Guillermo Bravo Morante, Viktoria A. Krenn, Cédric Cordey, Nicole Torres‐Tamayo, Kaspar Staub, Nicole M. Webb, Martin Haeusler   +7 more
wiley   +1 more source

Hospital Pharmacy Service: thinking in the post-pandemic time

Revista Brasileira de Farmácia Hospitalar e Serviços de Saúde, 2020
Angelita C. MELO, Alice R. SILVA, Mario J. SOBREIRA-DA-SILVA, Renata C. NASCIMENTO, Fernando FERNANDEZ-LLIMOS , Antonio M. MENDES, Catarina L. OLIVEIRA , Cesar A. TEIXEIRA , Claudia G. OSORIO-DE-CASTRO , Débora DE CARVALHO , Eugenie D. NERI , Fabio FERRACINI , Javier A. CRIADO , Lucila I. CASTRO-PASTRANA , Luciane F. CALDEIRA, Pamela BERTOLDO , Rodrigo ORELLANA , Selma R. CASTILHO, Simone D. MAHMUD, Teresa HERNÁNDEZ-GALINDO , Valéria S. BEZERRA, Valdjane SALDANHA, Vanusa B. PINTO, Elisangela C. LIMA   +23 more
doaj   +1 more source

Nationwide Temporal Trends in Adverse Pregnancy Outcomes and Treatments in Systemic Lupus Erythematosus Pregnancy Over Two Decades in Sweden

Arthritis &Rheumatology, EarlyView.
Objective This nationwide descriptive study examined temporal trends in adverse pregnancy outcomes (APOs) and treatments in systemic lupus erythematosus (SLE) pregnancies in Sweden over 2003 to 2022. Methods Using nationwide Swedish registers, we identified 1,417 pregnancies of women with prevalent SLE and delivery dates in 2003 to 2022 and matched ...
Ngoc V. Nguyen, Anna Sandström, Annica Dominicus, Elisabet Svenungsson, Karin Hellgren, Julia F. Simard, Elizabeth V. Arkema   +6 more
wiley   +1 more source

Implementation of vertical clinical pharmacist service on venous thromboembolism prophylaxis in hospitalized medical patients

Einstein (São Paulo)
Objective : To describe the vertical clinical pharmacist service’s interventions in prevention of venous thromboembolism. Methods : This prospective study was done at a private hospital.
Celina Setsuko Haga, Cassio Massashi Mancio, Micheline da Costa Pioner, Fabricia Aparecida de Lima Alves, Andreia Ramos Lira, João Severino da Silva, Fábio Teixeira Ferracini, Wladimir Mendes Borges Filho, João Carlos de Campos Guerra, Claudia Regina Laselva   +9 more
doaj   +1 more source