Results 41 to 50 of about 85,680 (297)

Rheumatologic Manifestations of Patients With Type B Insulin Resistance

Arthritis Care &Research, EarlyView.
Objective The objectives of this study were to identify laboratory and clinical features associated with type B insulin resistance (TBIR), a rare condition caused by autoantibodies that inhibit the insulin receptor, most frequently occurring in the setting of systemic lupus erythematosus (SLE), and to increase awareness of this rare, life‐threatening ...
S. Amara Ogbonnaya, Sandra G. Williams, Raphael A. Kirou, Marissa Lightbourne, Rebecca J. Brown   +4 more
wiley   +1 more source

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

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden, Katlyn E. McGrattan, Peter B. Kang   +2 more
wiley   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Translational Research in Audiology

Audiology Research, 2023
The importance of translational research in the medical sciences is growing logarithmically, as this type of research provides the translation of basic research into a clinical product (a drug, therapeutic agent or means of monitoring a disease), as well
Agnieszka J. Szczepek
doaj   +1 more source

DPOAE in HIV infected adults [PDF]

, 2008
HIV infection is associated with impairment of hearing function, at any stage of disease causing complication to the external, middle, inner ear and CNS.
Bhat, Jayashree S, Ranjan, Rajesh
core  

The Global Airways in Practice: Long‐term Effects of Mepolizumab With or Without FESS on Type 2 Inflammation in Patients With CRSwNP

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis with nasal polyps (CRSwNP) is a type 2 inflammatory disease often associated with asthma. The global airway hypothesis suggests bidirectional inflammatory interactions between upper and lower airways. Mepolizumab, an anti–IL‐5 therapy, treats conditions systemically, while functional endoscopic sinus surgery ...
Jens Tidemandsen, Vibeke Backer, Anne Sophie Homøe, Thomas H. L. Jensen, Kasper Aanæs, Howraman Meteran, Morten Hostrup, Lukas Moesgaard, Christiane Haase, Peter G. Gibson   +9 more
wiley   +1 more source

Evaluation of the accuracy of ChatGPT-generated information in the field of general audiology

Northwestern Medical Journal
Aim: This study evaluates the accuracy and reliability of ChatGPT’s responses to open-ended questions in otology and audiology, focusing on its potential use in training ear, nose, and throat (ENT) professionals.
Gökçe Saygı Uysal, Aykut Özdoğan, Zülküf Küçüktağ, Esma Altan   +3 more
doaj   +1 more source

Tactile hypo‐responsivity in autism: Examining potential for diagnostic relevance

JCPP Advances, EarlyView.
The study reported in this paper examined the utility of a brief tactile reactivity assessment in differentiating autistic children from those with other neurodevelopmental concerns and the association between tactile responsivity, autism symptomatology, developmental level, and adaptive skills.
Girija Kadlaskar, Rebecca McNally Keehn, Riley Rozniarek, Nina Pan Fujii, Brandon Keehn   +4 more
wiley   +1 more source

Narrative review on embracing advances in technology for clinical teaching and learning in audiology: opportunities delivered by COVID-19 to the South African academy

Frontiers in Education
BackgroundThe COVID-19 pandemic precipitated a global shift in education and healthcare delivery, including the field of audiology. In South Africa, the sudden transition to remote learning and tele-healthcare posed unique challenges, particularly given ...
Katijah Khoza-Shangase
doaj   +1 more source