You searched for "Genetics"

640 results found

Quality of life measurement tools in children with speech and language difficulties

The authors of this paper reviewed various quality of life measurement tools which are used to assess the effects of speech and language difficulties in children and adolescents. Measuring quality of life outcomes in children with these difficulties is not...

Nursing care for ENT patients

Increasingly within the UK, issues related to bed availability can lead to ENT patients receiving care away from previously well-established specialist wards. This is a cause for concern in many institutions and the authors looked to assess this. They demonstrated...

Identifying congenital CMV: the screening debate

Congenital cytomegalovirus (cCMV) is a significant global public health burden and is the biggest non-genetic cause of childhood hearing loss, as well as being an important cause of neurodevelopmental delay. Despite a study concluding that there was not enough evidence...

Ballenger’s Otorhinolaryngology: Head and Neck Surgery, 18th Edition

One hundred and eight years after its first edition, the two-volume eighteenth edition of Ballenger’s Otorhinolaryngology is published in1300 pages set out in six sections, 114 chapters ably edited by Ashley Wackym and James Snow. Volume one very comprehensively covers...

Manual of Pediatric Balance Disorders - Second Edition

This is a very welcome and recently updated book for those wishing to learn about paediatric balance disorders. It has a multidisciplinary authorship and therefore all the specialties involved in the management of a child with balance problems should be...

The polyp shrinker

Inflammatory markers, including T2 cells beta common (βc) cytokines IL-3, IL5 and granulocyte-macrophage colony-stimulating factor (GM-CSF), are known to play an important role in chronic rhinosinusitis with nasal polyps (CRSwNP). CSL311, a monoclonal antibody (mAb), was developed to target human...

Recurrent ENT infections in children – is it a sign of primary immunodeficiency disease?

ENT clinicians often come across children with recurrent ear, sinus and pulmonary infections. These recurrent infections, albeit common in childhood, can represent an early sign of primary immunodeficiency diseases (PIDD). PIDD is an underdiagnosed group of genetic disorders involving absent...

Clinicopathological features of follicular variant of papillary thyroid carcinoma

The follicular variant (FV) of papillary thyroid carcinoma (PTC) is characterised by the presence of nuclear features of PTC together with a follicular growth pattern. It is currently reported to make up 11.8% to 53.3% of all PTC cases. It...

Textbook of Otitis Media: The Basics and Beyond

This book is a comprehensive resource that discusses the multifaceted condition of otitis media. It aims to serve a wide range of medical professionals, including otolaryngologists, audiologists, paediatricians, and medical students, by providing both fundamental knowledge and advanced insights into...

Absorbing the hurt

In this article, taken from his blog, ENT surgeon John McGarva reminds us that while we can’t fix everything, we may still be able to help. It was a long time ago. I was a scarily young Houseman, barely 22,...

A patient-centred approach from the patient’s point of view

Seeking help for hearing loss is often a big step for patients. Shari Eberts, a hearing health advocate living with hearing loss, explains why, and gives us her five top tips to improve patient-centred care in such cases. Sensorineural hearing...

Hearing loss and Alport syndrome

Alport syndrome (AS) includes a group of hereditary diseases caused by mutations in the COL4A3, COL4A4 or COL4A5 genes. These genes are responsible for the biosynthesis of α3, α4 and α5 collagen IV chains, which are located in the glomerular...