Results 101 to 110 of about 6,438 (243)

Clinical Insights From a Case of Sifrim‐Hitz‐Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang, Shuangzhong Chen, Guanping Dong, Suhong Yang, Ping Wang, Qiong Zhou, Pingping Wang   +6 more
wiley   +1 more source

Barriers to radiographers' use of radiation safety principles: A qualitative perspective

Journal of Medical Radiation Sciences
Introduction To minimise the risks associated with ionising radiation, it is necessary for all staff involved to employ specific techniques to reduce radiation exposure of the patient. These techniques include using compression during examinations of the
Berit Møller Christensen, Anna Bjällmark, Irine Maghanwi Ndipen, Shilan Shamon Afram, May Bazzi   +4 more
doaj   +1 more source

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline, Jason Laufman, Kimberly Wallis, Michelle Merrill   +3 more
wiley   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij, Emilie de Groot, Eleonora Orlandini, Willemijn M. Klein, Charlotte W. Ockeloen, Joyce M. Geelen   +5 more
wiley   +1 more source

Effect and Threshold of Endoscopic Findings for CRS Control Status and Long‐Term Outcome Prediction

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background EPOS 2020 defined chronic rhinosinusitis (CRS) disease control using patient symptoms and medication usage but endoscopic findings were considered optional. The effect of adding endoscopic features, an appropriate threshold, and their association with present or future symptom control have not been studied.
Steven Chun‐Kang Liao, Aditi Agarwal, Junqin Bai, Zhidi Luo, Siyuan Dong, Regan L. Harmon, Brooke N. Gleason, Julia Huang, David B. Conley, Kevin C. Welch, Stephanie Shintani‐Smith, Robert C. Kern, Atsushi Kato, Lutfiyya N. Muhammad, Bruce K. Tan   +14 more
wiley   +1 more source

Appropriate Medical Therapy Primarily Modifies Type 2 and Severity Biomarkers in Chronic Rhinosinusitis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Appropriate medical therapy (AMT) is first‐line treatment for patients with chronic rhinosinusitis (CRS). We evaluated inflammatory structure, treatment‐induced changes, and biomarker‐outcome associations in AMT‐managed patients. Methods Fifty‐one CRS patients were evaluated before and after AMT which included a combination of oral ...
Asher C. Park, Brooke N. Gleason, Eli Stein, Saied Ghadersohi, Atsushi Kato, Stephanie Shintani‐Smith, David B. Conley, Kevin C. Welch, Robert C. Kern, Bruce K. Tan   +9 more
wiley   +1 more source

Uncovering Cystic Fibrosis Carrier: Insights From a Heterozygous CFTR‐F508del Rabbit Model

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) is a heterogeneous inflammatory disorder frequently associated with impaired mucociliary clearance and bacterial infection. Individuals carrying a single cystic fibrosis transmembrane conductance regulator (CFTR) mutation exhibit partial CFTR dysfunction and are increasingly recognized as being at risk ...
Do‐Yeon Cho, Alexis E. McFeely, Daniel Skinner, Shaoyan Zhang, Justin Hedvat, Weslee Ping‐ay, Daniel M. Beswick, Justin H. Turner, Bradford A. Woodworth, Jie Xu   +9 more
wiley   +1 more source

Determining the Minimal Clinically Important Difference of the 40‐Item Smell Identification Test in People With Cystic Fibrosis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) and olfactory dysfunction (OD) are highly prevalent among people with cystic fibrosis (PwCF) and negatively impact quality of life. The 40‐item Smell Identification Test (SIT) is widely used to assess psychophysical olfaction, but a CF‐specific minimal clinically important difference (MCID) has not been ...
Eugene Oh, Jessa E. Miller, Michelle J. Lee, Anna Zemke, David Baraghoshi, Matthew J. Strand, Jeremiah A. Alt, Todd E. Bodner, Michael Chang, Naweed I. Chowdhury, Patricia H. Eshaghian, Anne E. Getz, Jennifer L. Goralski, David A. Gudis, Peter H. Hwang, Ashoke Khanwalkar, Adam J. Kimple, Jivianne T. Lee, Douglas A. Li, Jess C. Mace, Jayakar V. Nayak, Jonathan B. Overdevest, Zara Patel, Daniella K. Safatian, Rodney J. Schlosser, Brent Senior, Amanda L. Stapleton, Timothy L. Smith, Zachary M. Soler, Jeffrey D. Suh, Grant A. Turner, Marilene B. Wang, Milene T. Saavedra, Jennifer L. Taylor‐Cousar, Daniel M. Beswick   +34 more
wiley   +1 more source

Compression suture: A method for simulating intervertebral disc degeneration in rats induced by excessive loading

Animal Models and Experimental Medicine, EarlyView.
In the compression suture group, a 5‐mm‐wide tail skin was removed, and then the defect was sutured to apply compressive force to the intervertebral disc. In the sham group, only the 5‐mm‐wide tail skin was removed without a compression suture. Compression suturing triggers apoptosis, inflammatory response, and imbalance of extracellular matrix ...
Xuening Liu, Fengguang Yang, Hefang Xiao, Yanni Duan, Xuewen Kang   +4 more
wiley   +1 more source