Browsing by Subject "hearing impairment"

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  • Beck-Nielsen, Signe S; Mughal, Zulf; Haffner, Dieter; Nilsson, Ola; Levtchenko, Elena; Ariceta, Gema; de Lucas Collantes, Carmen; Schnabel, Dirk; Jandhyala, Ravi; Mäkitie, Outi (BioMed Central, 2019)
    Abstract Background X-linked hypophosphatemia (XLH) is an inherited disease of phosphate metabolism in which inactivating mutations of the Phosphate Regulating Endopeptidase Homolog, X-Linked (PHEX) gene lead to local and systemic effects including impaired growth, rickets, osteomalacia, bone abnormalities, bone pain, spontaneous dental abscesses, hearing difficulties, enthesopathy, osteoarthritis, and muscular dysfunction. Patients with XLH present with elevated levels of fibroblast growth factor 23 (FGF23), which is thought to mediate many of the aforementioned manifestations of the disease. Elevated FGF23 has also been observed in many other diseases of hypophosphatemia, and a range of animal models have been developed to study these diseases, yet the role of FGF23 in the pathophysiology of XLH is incompletely understood. Methods The role of FGF23 in the pathophysiology of XLH is here reviewed by describing what is known about phenotypes associated with various PHEX mutations, animal models of XLH, and non-nutritional diseases of hypophosphatemia, and by presenting molecular pathways that have been proposed to contribute to manifestations of XLH. Results The pathophysiology of XLH is complex, involving a range of molecular pathways that variously contribute to different manifestations of the disease. Hypophosphatemia due to elevated FGF23 is the most obvious contributor, however localised fluctuations in tissue non-specific alkaline phosphatase (TNAP), pyrophosphate, calcitriol and direct effects of FGF23 have been observed to be associated with certain manifestations. Conclusions By describing what is known about these pathways, this review highlights key areas for future research that would contribute to the understanding and clinical treatment of non-nutritional diseases of hypophosphatemia, particularly XLH.
  • Beck-Nielsen, Signe Sparre; Mughal, Zulf; Haffner, Dieter; Nilsson, Ola; Levtchenko, Elena; Ariceta, Gema; Collantes, Carmen de Lucas; Schnabel, Dirk; Jandhyala, Ravi; Mäkitie, Outi (2019)
    Background: X-linked hypophosphatemia (XLH) is an inherited disease of phosphate metabolism in which inactivating mutations of the Phosphate Regulating Endopeptidase Homolog, X-Linked (PHEX) gene lead to local and systemic effects including impaired growth, rickets, osteomalacia, bone abnormalities, bone pain, spontaneous dental abscesses, hearing difficulties, enthesopathy, osteoarthritis, and muscular dysfunction. Patients with XLH present with elevated levels of fibroblast growth factor 23 (FGF23), which is thought to mediate many of the aforementioned manifestations of the disease. Elevated FGF23 has also been observed in many other diseases of hypophosphatemia, and a range of animal models have been developed to study these diseases, yet the role of FGF23 in the pathophysiology of XLH is incompletely understood. Methods: The role of FGF23 in the pathophysiology of XLH is here reviewed by describing what is known about phenotypes associated with various PHEX mutations, animal models of XLH, and non-nutritional diseases of hypophosphatemia, and by presenting molecular pathways that have been proposed to contribute to manifestations of XLH. Results: The pathophysiology of XLH is complex, involving a range of molecular pathways that variously contribute to different manifestations of the disease. Hypophosphatemia due to elevated FGF23 is the most obvious contributor, however localised fluctuations in tissue non-specific alkaline phosphatase (TNAP), pyrophosphate, calcitriol and direct effects of FGF23 have been observed to be associated with certain manifestations. Conclusions: By describing what is known about these pathways, this review highlights key areas for future research that would contribute to the understanding and clinical treatment of non-nutritional diseases of hypophosphatemia, particularly XLH.
  • Torppa, Ritva; Huotilainen, Minna (2010)
    We review the possible mechanisms by which music may enhance the evelopment of spoken language, and report preliminary results from our studies with cochlear implant (CI) children. One important finding in these studies is a connection of exposure to parental singing with better ability to perceive contrastive focus and stress in speech. Our preliminary conclusions are that being sung to maintains the child’s attention for extended periods, and that the larger differences in pitch, intensity and duration in song in comparison to speech may help direct attention towards cues in song that also have a role in the perception of speech prosody. This may be of crucial importance for children with hearing impairment, because it may help them to segment the continuous speech stream into words and thus enhance learning of spoken language. Thus, music seems able to play animportant part in the rehabilitation of children with hearing impairment.
  • Pajo, Kati; Laakso, Minna (2020)
    Hearing impairment is a common chronic condition in middle-aged and elderly adults. The number of individuals with hearing impairment is expected to rise because of the longer life expectancies and trends in the population growth. Acquired hearing impairment in adulthood is not just a disorder of the sense of hearing. It is primarily a social disability because its handicapping effect is experienced in interaction with other people. This paper aims to explore how the repair of problems in hearing is initiated by hearing-impaired individuals with acquired mild to severe hearing impairment. By using the method of conversation analysis (CA), this paper examines the occurrence of other-initiations of repair (OIR) and how it is typically resolved in actual mundane interaction. In addition, this paper reveals the challenges and the impact of hearing impairment as the state of hearing deteriorates. This article argues that the frequency of OIR in mild hearing impairment does not differ from normally hearing individuals. However, in a more severe grade of hearing impairment, the OIR sequences are longer, more frequent, multimodal and may require more vigilance from the normally-hearing conversation partner. Implications for counselling are suggested.