The incomplete partition type III is a severe cochlear malformation present in X-linked deafness. It is a rare, non-syndromic cause of severe to profound mixed hearing loss, often progressive. The complete absence of bony modiolus and the wide communication between the cochlea and the internal auditory canal make cochlear implantation challenging, with still no consensus on the management of these patients. To the best of our knowledge, no results have ever been published in the literature on the treatment of these patients with hybrid stimulation (bone and air). We present three cases in which this hybrid stimulation gave better audiological results then air stimulation alone. A literature review on audiological results of the current treatment options in children affected by IPIII malformation was conducted independently by two researchers. Ethical considerations on the treatment of these patients were conducted by the Bioethics department of the University of Insubria. In two of the patients, the bone–air stimulation, associated with prosthetic–cognitive rehabilitation, meant that surgery was avoided, obtaining similar communication performances of those present in the literature. We believe that, when the bone threshold appears partially preserved, a stimulation through the bone or hybrid modality, such as the Varese B.A.S. stimulation, should be attempted.
β-Thalassaemia (BT) is a hereditary genetic blood disease caused by a mutation in the gene that encodes the haemoglobin protein. In the most severe forms, BT forces patients to undergo frequent blood transfusions, which has a significant impact on the quality of life. Classified as rare, BT is very common in the Mediterranean area, and is also found in the Middle East, Central Asia, India, South America, and North Africa. This disease does not currently have a definitive cure, although technological progress and new gene therapies are achieving promising results. This literature review was conducted with the aim to understand how BT affects patients' lives in various social contexts in which they are involved. The authors also aimed to understand which methods are used for this assessment and the possible social actions that can help in the management of the disease. Electronic databases, including PubMed, Scopus, and Web of Science, were used to search for the articles. Related article titles were selected and reduced to the abstracts of the relevant articles, after which the selected full articles were reviewed. The reviewed articles showed consistent agreement in observing that the quality of life of patients with BT is considerably lower compared with the healthy population in terms of physical, emotional, social, and functioning at school. The negative results highlight the significance of the introduction of suitable programmes by healthcare providers, counsellors, and education authorities to provide psychosocial support, and improve academic performance. In addition, genetic counselling and intervention programmes would positively impact the lives of patients with thalassaemia.
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