Results 41 to 50 of about 92,407 (261)

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

No pain, no strain: Targin® mitigates pain and constipation following spinal cord injury

Annals of Clinical and Translational Neurology, 2023
Background Opioids effectively reduce chronic pain, but present significant side effects including opioid‐induced constipation. Oxycodone/naloxone decreases pain and constipation in cancer patients, however its effect on spinal cord injury population ...
Rahul Sachdeva, Ali Hosseinzadeh, Aaron Rizzardo, Andrea Maharaj, Michael Berger, Andrei Krassioukov   +5 more
doaj   +1 more source

Radiation emergency medical countermeasures: Current formulary, identified gaps, and future approaches

Animal Models and Experimental Medicine, EarlyView.
Current radiation medical countermeasures primarily focus on hematopoietic acute radiation syndrome (H‐ARS) using agents like granulocyte colony‐stimulating factor (G‐CSF), granulocyte‐macrophage colony‐stimulating factor (GM‐CSF), and romiplostim, alongside treatments for internal contamination (Prussian blue, diethylenetriamine pentaacetate [DTPA ...
Wen‐Bing Ma, Rong‐Hua Yin, Guang‐Ming Ren, Yin Zhang, Li‐Juan Li, Wei Liu, Ting Chen, Wei Zhou, Mian Zu, Rong‐Ling Yin, Xin‐Di Shi, Lei Wang, Xiao‐Ming Yang   +12 more
wiley   +1 more source

Positive association between the neutrophil percentage-to-albumin ratio and constipation: a retrospective cross-sectional study

Frontiers in Medicine
IntroductionThe neutrophil-to-albumin ratio (NPAR), a novel marker of systemic inflammation, has been utilized to predict outcomes in patients with cancer and cardiovascular diseases.
Yuping Shu, Zuqing Chen, Minyuan Lu, Nai Mi, Yong Wan, Wei Shen, Zewei Sheng, Zewei Sheng, Hongwu Tao, Xuefeng Liu, Xuefeng Liu, Yuedong Liu   +11 more
doaj   +1 more source

Trametinib in Adults with Neurofibromatosis Type 1‐Related Symptomatic Plexiform Neurofibromas

Annals of Neurology, EarlyView.
Objective Mitogen‐activated protein kinase kinase inhibitors have shown promising results in treatment of plexiform neurofibromas in neurofibromatosis type 1 patients, but data in adults are limited. The aim of this phase 2 study was to investigate the efficacy and safety of trametinib in adults with neurofibromatosis type 1.
D. Christine Noordhoek, David F. Hanff, Pim J. French, Sarah A. van Dijk, Erik A.C. Wiemer, Olivier C. Manintveld, Martin J. van den Bent, Walter Taal   +7 more
wiley   +1 more source

Expert Perspective: Diagnosis and Treatment of Castleman Disease

Arthritis &Rheumatology, EarlyView.
Castleman disease (CD) is a major diagnostic challenge for rheumatologists. Unicentric CD (UCD) involves one enlarged lymph node region, whereas multicentric CD (MCD) involves multiple enlarged lymph node regions. Both UCD and MCD may exhibit a wide range of symptoms that overlap with other immune‐mediated conditions.
Luke Y. C. Chen, Lu Zhang, David C. Fajgenbaum   +2 more
wiley   +1 more source

Correlations between heavy metals and chronic diarrhea and constipation in US adults [PDF]

, 2022
Xie Minhua, Lei Xia
openalex   +1 more source

Altered Primary Somatosensory Neuron Development in a Pten Heterozygous Model for Autism Spectrum Disorder

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder characterized by deficits in social interactions, repetitive behaviors, and hyper‐ or hyposensitivity to sensory stimuli. The cellular mechanisms underlying the emergence of abnormal sensory sensitivity in ASD are not fully understood.
Alejandra Fernandez, Nick Sarn, Charis Eng, Kevin M. Wright   +3 more
wiley   +1 more source

Beyond right or wrong: How partial credit scoring on multiple‐choice questions improves student performance and assessment perceptions

British Journal of Clinical Pharmacology, EarlyView.
Aims In this study, we examined the effects of assigning partial credit to selected answer choices on student performance and perceptions in a pharmacology course using Type A multiple‐choice questions (MCQs). Methods Partial credit scoring was incorporated into quizzes and exams in a 10‐week pharmacology course for postbaccalaureate premedical ...
Stephen D. Schneid, Chris Armour, Katharina Brandl   +2 more
wiley   +1 more source