Results 11 to 20 of about 28,980 (179)
Transmission factors and exposure to infections at work and invasive pneumococcal disease
American Journal of Industrial Medicine, Volume 66, Issue 1, Page 65-74, January 2023., 2023 Abstract Background Working in close contacts with coworkers or the general public may be associated with transmission of invasive pneumococcal disease (IPD). We investigated whether crowded workplaces, sharing surfaces, and exposure to infections were factors associated with IPD.
Kjell Torén +4 more
wiley +1 more source
Two SOX11 variants cause Coffin–Siris syndrome with a new feature of sensorineural hearing loss
American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 183-189, January 2023., 2023 Abstract Coffin‐Siris syndrome (CSS, OMIM#135900) is a rare congenital disorder associated with neurodevelopmental and dysmorphic features. The primary cause of CSS is pathogenic variants in any of 9 BAF chromatin‐remodeling complex encoding genes or the genes SOX11 and PHF6. Herein, we performed whole‐exome sequencing (WES) and a series of analyses of
Qiuquan Wang +5 more
wiley +1 more source
Clinical overview on RASopathies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 414-424, December 2022., 2022 Abstract RASopathies comprise a group of clinically overlapping developmental disorders caused by genetic variations affecting components or modulators of the RAS‐MAPK signaling cascade, which lead to dysregulation of signal flow through this pathway.
Martin Zenker
wiley +1 more source
Neuroimaging for differential diagnosis of transient neurological attacks
Brain and Behavior, Volume 12, Issue 12, December 2022., 2022 Abstract Background Rapid yet comprehensive neuroimaging protocols are required for patients with suspected acute stroke. However, stroke mimics can account for approximately one in five clinically diagnosed acute ischemic strokes and the rate of thrombolyzed mimics can be as high as 17%.
Ying Wang, Hao Zha
wiley +1 more source
Autosomal recessive hyper‐IgE syndrome due to DOCK8 deficiency: An adjunctive role for omalizumab
Journal of Cutaneous Immunology and Allergy, Volume 5, Issue 6, Page 222-226, December 2022., 2022 We report a rare case of AR‐HIES with DOCK8 deficiency in a young male that was successfully treated by infection management, skincare, diet elimination, and omalizumab. Abstract Autosomal recessive hyper‐IgE syndrome (AR‐HIES) is a rare primary immunodeficiency disorder characterized by high serum IgE levels, recurrent viral skin infections, severe ...
Kim Han Nguyen +8 more
wiley +1 more source
Human Mutation, Volume 43, Issue 12, Page 1844-1851, December 2022., 2022 Abstract TATA‐binding protein associated factor 4 (TAF4) is a subunit of the Transcription Factor IID (TFIID) complex, a central player in transcription initiation. Other members of this multimeric complex have been implicated previously as monogenic disease genes in human developmental disorders.
Beau D. E. Janssen +20 more
wiley +1 more source
Subjective Fatigue in Children With Unaided and Aided Unilateral Hearing Loss
The Laryngoscope, Volume 133, Issue 1, Page 189-198, January 2023., 2023 Objectives Fatigue is frequently observed in children with chronic diseases and can affect the quality of life (QoL). However, research in children with unilateral hearing loss (UHL) is scarce. Subsequently, no studies investigated the effects of hearing aids on fatigue in children.
Kim H. E. Bakkum +4 more
wiley +1 more source
International Journal of Methods in Psychiatric Research, Volume 31, Issue 4, December 2022., 2022 Abstract Objectives To explore the impact of various measurements of long‐term health conditions (LTCs) on the resulting prevalence estimates using data from a nationally representative dataset. Methods Children and young people in the Millennium Cohort Study were followed at ages 3, 5, 7, 11, and 14 years (N = 15,631).
Laura Panagi +5 more
wiley +1 more source
Structures and functions of cilia during vertebrate embryo development
Molecular Reproduction and Development, Volume 89, Issue 12, Page 579-596, December 2022., 2022 Abstract Cilia are hair‐like structures that project from the surface of cells. In vertebrates, most cells have an immotile primary cilium that mediates cell signaling, and some specialized cells assemble one or multiple cilia that are motile and beat synchronously to move fluids in one direction.
Jeffrey D. Amack
wiley +1 more source
Translational Biophotonics, Volume 4, Issue 4, December 2022., 2022 Childhood ear infections are highly prevalent and diagnosed with the otoscope. Frequently, however, this view is obstructed by cerumen, complicating clinician assessment and appropriate and effective management. An optical coherence tomography (OCT) otoscope capable of capturing both depth‐resolved OCT images and digital color surface images was used ...
Ryan G. Porter +4 more
wiley +1 more source