Results 11 to 20 of about 96,976 (289)
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
ACUTE OTITIS MEDIA IN CHILDHOOD
Вісник проблем біології і медицини, 2020 In childhood, the following forms of acute otitis media are distinguished: acute purulent otitis media in children of preschool and school age; acute purulent otitis media in newborns; latent acute otitis media; recurrent otitis media; otitis in ...
Bezshapochny S. B., Sonnik N. B.
doaj +1 more source
Validation of the Otitis Media-6 Questionnaire for European Portuguese
Acta Médica Portuguesa, 2017 Introduction: Otitis media is one of the most prevalent childhood diseases. The impact of otitis media on quality of life of Portuguese children is unknown, because of the unavailability of a tool validated in European Portuguese to assess this ...
Ana Rita Lameiras +3 more
doaj +1 more source
Otitis Media with Effusion in Congenital Nasolacrimal Duct Obstruction [PDF]
Basrah Journal of Surgery, 2003 Forty three patients with congenital nasolacrimal duct obstruction were examined by an E.N.T. specialist in Prince Ali Hospital for presence or absence of otitis media with effusion to investigate the association, if any, between otitis media with ...
Suhair Al-Hurani +2 more
doaj +1 more source