Source:Journal of Voice
Author(s): Philipp Aichinger, Gernot Kubin
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OtoRhinoLaryngology by Sfakianakis G.Alexandros Sfakianakis G.Alexandros,Anapafseos 5 Agios Nikolaos 72100 Crete Greece,tel : 00302841026182,00306932607174
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Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up.
Mol Genet Metab Rep. 2017 Sep;12:62-68
Authors: Barth AL, de Magalhães TSPC, Reis ABR, de Oliveira ML, Scalco FB, Cavalcanti NC, Silva DSE, Torres DA, Costa AAP, Bonfim C, Giugliani R, Llerena JC, Horovitz DDG
Abstract
Mucopolysaccharidosis type II (MPS II - Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2 sulfatase (I2S), leading to the accumulation of the glycosaminoglycans, affecting multiple organs and systems. Enzyme replacement therapy does not cross the blood brain barrier, limiting results in neurological forms of the disease. Another option of treatment for severe MPS, hematopoietic stem cell transplantation (HSCT) has become the treatment of choice for the severe form of MPS type I, since it can preserve neurocognition when performed early in the course of the disease. To date, only few studies have examined the long-term outcomes of HSCT in patients with MPS II. We describe the seven-year follow-up of a prenatally diagnosed MPS II boy with positive family history of severe MPS form, submitted to HSCT with umbilical cord blood cells at 70 days of age. Engraftment after 30 days revealed mixed chimerism with 79% donor cells; after 7 years engraftment remains at 80%. I2S activity 30 days post-transplant was low in plasma and normal in leukocytes and the same pattern is observed to date. At age 7 years growth charts are normal and he is very healthy, although mild signs of dysostosis multiplex are present, as well as hearing loss. The neuropsychological evaluation (Wechsler Intelligence Scale for Children - Fourth Edition - WISC-IV), disclosed an IQ of 47. Despite this low measured IQ, the patient continues to show improvements in cognitive, language and motor skills, being quite functional. We believe that HSCT is a therapeutic option for MPS II patients with the severe phenotype, as it could preserve neurocognition or even halt neurodegeneration, provided strict selection criteria are followed.
PMID: 28649514 [PubMed - in process]
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Cost-effectiveness of Universal and Targeted Newborn Screening for Congenital Cytomegalovirus Infection.
JAMA Pediatr. 2016 Dec 01;170(12):1173-1180
Authors: Gantt S, Dionne F, Kozak FK, Goshen O, Goldfarb DM, Park AH, Boppana SB, Fowler K
Abstract
Importance: Congenital cytomegalovirus (cCMV) infection is a major cause of childhood deafness. Most cCMV infections are not diagnosed without newborn screening, resulting in missed opportunities for directed care.
Objective: To estimate the cost-effectiveness of universal and targeted newborn cCMV screening programs compared with no cCMV screening.
Design, Setting, and Participants: Models were constructed using rates and outcomes from prospective cohort studies of newborn cCMV screening in US postpartum care and early hearing programs. Costs of laboratory testing, treatment, and hearing loss were drawn from Medicaid data and published estimates. The benefits of cCMV screening were assumed to come from antiviral therapy for affected newborns to reduce hearing loss and from earlier identification of hearing loss with postnatal onset. Analyses were performed from July 2014 to March 2016.
Interventions: Models compared universal or targeted cCMV screening of newborns with a failed hearing screen, with standard care for cCMV infection.
Main Outcomes and Measures: The incremental costs of identifying 1 cCMV infection, identifying 1 case of cCMV-related hearing loss, and preventing 1 cochlear implant; the incremental reduction in cases of severe to profound hearing loss; and the differences in costs per infant screened by universal or targeted strategies under different assumptions about the effectiveness of antiviral treatment.
Results: Among all infants born in the United States, identification of 1 case of cCMV infection by universal screening was estimated to cost $2000 to $10 000; by targeted screening, $566 to $2832. The cost of identifying 1 case of hearing loss due to cCMV was as little as $27 460 by universal screening or $975 by targeted screening. Assuming a modest benefit of antiviral treatment, screening programs were estimated to reduce severe to profound hearing loss by 4.2% to 13% and result in direct costs of $10.86 per newborn screened. However, savings of up to $37.97 per newborn screened were estimated when costs related to functionality were included.
Conclusions and Relevance: Newborn screening for cCMV infection appears to be cost-effective under a wide range of assumptions. Universal screening offers larger net savings and the greatest opportunity to provide directed care. Targeted screening also appears to be cost-effective and requires testing for fewer newborns. These findings suggest that implementation of newborn cCMV screening programs is warranted.
PMID: 27723885 [PubMed - indexed for MEDLINE]
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Smartphone hearing screening in mHealth assisted community-based primary care.
J Telemed Telecare. 2016 Oct;22(7):405-12
Authors: Yousuf Hussein S, Wet Swanepoel D, Biagio de Jager L, Myburgh HC, Eikelboom RH, Hugo J
Abstract
INTRODUCTION: Access to ear and hearing health is a challenge in developing countries, where the burden of disabling hearing loss is greatest. This study investigated community-based identification of hearing loss using smartphone hearing screening (hearScreen™) operated by community health workers (CHWs) in terms of clinical efficacy and the reported experiences of CHWs.
METHOD: The study comprised two phases. During phase one, 24 CHWs performed community-based hearing screening as part of their regular home visits over 12 weeks in an underserved community, using automated test protocols employed by the hearScreen™ smartphone application, operating on low-cost smartphones with calibrated headphones. During phase two, CHWs completed a questionnaire regarding their perceptions and experiences of the community-based screening programme.
RESULTS: Data analysis was conducted on the results of 108 children (2-15 years) and 598 adults (16-85 years). Referral rates for children and adults were 12% and 6.5% respectively. Noise exceeding permissible levels had a significant effect on screen results at 25 dB at 1 kHz (p<0.05). Age significantly affected adult referral rates (p < 0.05), demonstrating a lower rate (4.3%) in younger as opposed to older adults (13.2%). CHWs were positive regarding the hearScreen™ solution in terms of usability, need for services, value to community members and time efficiency.
CONCLUSION: Smartphone-based hearing screening allows CHWs to bring hearing health care to underserved communities at a primary care level. Active noise monitoring and data management features allow for quality control and remote monitoring for surveillance and follow-up.
PMID: 26468215 [PubMed - indexed for MEDLINE]