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Annals of Medicine and Surgery (2012) Apr 2024Alstrom syndrome is one of the rarest monogenic ciliopathy belonging to autosomal recessive disorder. The pathophysiology of Alstrom syndrome is not well understood but...
INTRODUCTION AND IMPORTANCE
Alstrom syndrome is one of the rarest monogenic ciliopathy belonging to autosomal recessive disorder. The pathophysiology of Alstrom syndrome is not well understood but based upon the available medical literature its mechanism can be linked with recessive mutation in Alstrom syndrome 1(ALSM1) gene resulting in various multiple organ involvement and poor prognosis. Moreover the co-occurrence of such syndrome simultaneously in twins in same period of time is considered rare.
CASE PRESENTATION
Monochorionic diamniotic twins male born to healthy parents with significant antenatal and natal history along with decreased vision in both eyes in both twins since neonatal period. Throughout the childhood the disease progressed without any confirmatory diagnosis during which the twins underwent simultaneous multiple systemic involvement such as legal blindness in both twins at the age of 11 years, insulin resistance and features of diabetes mellitus, sensorineural hearing loss, subclinical hypothyroidism and various deranged metabolic panels. Certain diagnosis of Alstrom syndrome was made at the age of 16 years in both twins after whole-exome sequencing.
CLINICAL DISCUSSION
Based on genetic profile alstrom syndrome is a unique diagnosis. Along with its multi-organ involvement features, its progression and prognosis should also be looked upon while diagnosis and management in such syndromic patients. The diagnostic delay in such cases is also a matter of concern which can result in further delay in halting adverse effects of the disease itself. The multidisciplinary approach with involvement of endocrionologist, ophthalmologist and audiologist can bring upon improvement in quality of life of the patients.
CONCLUSION
With the prevalence of 1 in million cases Alstrom Hallgren syndrome is one of the rare genetic disorder with poor prognosis. In our case we present classical findings in twins who were diagnosed as Alstrom syndrome concurrently and further diseases progressed simultaneously.
PubMed: 38576930
DOI: 10.1097/MS9.0000000000001796 -
The South African Journal of... Mar 2024Hearing impairment is an invisible disability affecting one in five people globally. Its ability to affect participation in activities of daily living means that it...
BACKGROUND
Hearing impairment is an invisible disability affecting one in five people globally. Its ability to affect participation in activities of daily living means that it requires prompt identification and intervention.
OBJECTIVE
This article aims to define the process of accessing audiologists from the onset of symptoms for adults with hearing impairment in a peri-urban community in South Africa.
METHOD
Twenty-three participants were recruited through purposive sampling from an audiology department of a public hospital. Semi-structured interviews were conducted using an interview guide, and data were mapped according to the participants' responses from the onset of ear and hearing symptoms to the point of audiologist consultation for analysis.
RESULTS
Seventeen (74%) participants had long journeys to accessing the audiologist after seeking help from multiple providers, with those with short journeys (26%) being referred mostly by public healthcare providers. Despite participants being from one peri-urban community, their journeys were influenced by socio-economics, health illiteracy and other structural factors. Finally, Ear-Nose-Throat specialists linked participants with audiology services.
CONCLUSION
Accessing audiology services is a complex process in some contexts. The disparities in the social environment, lifestyle factors and pluralistic healthcare models influence access to audiologists. Healthcare providers must take cognisance of the journeys of adults with hearing impairment in their clinical interventions. Universal health coverage, in the form of the planned National Health Insurance (NHI) for all South African citizens, will play an important role in addressing the societal inequalities in accessing healthcare. Factors leading to long journeys should be addressed to facilitate early intervention.Contribution: The study raises implications for the planned NHI in South Africa, suggesting that universal health coverage could play a vital role in addressing societal inequalities in accessing healthcare, including audiology services.
Topics: Adult; Humans; Audiology; South Africa; Activities of Daily Living; Hearing Loss; Audiologists
PubMed: 38572901
DOI: 10.4102/sajcd.v71i1.1002 -
African Journal of Primary Health Care... Mar 2024Unavailability of healthcare resources can lead to poor patient outcomes. The latter is true for infants with hearing loss and require early hearing detection and...
BACKGROUND
Unavailability of healthcare resources can lead to poor patient outcomes. The latter is true for infants with hearing loss and require early hearing detection and intervention (EHDI).
AIM
To determine the availability and distribution of resources for EHDI in state hospitals in the Eastern Cape (EC) province, South Africa.
SETTING
Sixteen state hospitals (nine district, four regional and three tertiary hospitals).
METHODS
Descriptive cross-sectional survey completed between July 2022 and October 2022.
RESULTS
Thirteen hospitals had audiologists (n = 4) or speech therapists and audiologists (n = 9). Specific to equipment, 10 hospitals had a screening otoacoustic emissions or automated auditory brainstem response, 8 hospitals had diagnostic middle ear analysers and only 3 hospitals had diagnostic auditory brainstem response and/or auditory steady state response. Twelve hospitals did not have visual response audiometry (VRA) and 94% had no hearing aid verification systems. Budget allocations were uneven, with only 10 hospitals, i.e., 4 districts, all regional and 2 tertiary hospitals being allocated varying amounts. Subsequently, only 50% provided newborn hearing screening, 56% provided diagnostic evaluations and 14 hospitals fitted hearing aids.
CONCLUSION
Results revealed a limited and uneven distribution of resources, which negatively impacted the provision of EHDI. Even distribution of healthcare resources and further research aimed at strengthening hearing health services is recommended as these could potentially improve equitable access to EHDI and the overall quality of healthcare provided.Contribution: This study highlights the need for even distribution of resources and strengthening of health systems, especially in the dawn of the National Health Insurance.
Topics: Infant; Infant, Newborn; Child; Humans; South Africa; Cross-Sectional Studies; Hearing; Hearing Tests; Hearing Loss; Neonatal Screening
PubMed: 38572860
DOI: 10.4102/phcfm.v16i1.3952 -
Danish Medical Journal Mar 2024Capacity constraints in Danish hearing healthcare may lead to diagnostic delays and repetitive pre-treatment audiological exams for hearing-impaired patients. This study...
INTRODUCTION
Capacity constraints in Danish hearing healthcare may lead to diagnostic delays and repetitive pre-treatment audiological exams for hearing-impaired patients. This study investigated the effectiveness of remote ear-nose-throat (ENT) specialist assessments (RESA) for complicated hearing loss, comparing the accuracy of private ENT specialists and medical audiologists.
METHODS
RESA screening accuracy was determined for four ENT specialists, individually and as subspecialised groups. These assessments were benchmarked against "gold standard" in-person ENT assessments for 445 potential adult first-time hearing aid users.
RESULTS
Medical audiologists initially recorded lower RESA screening specificity and positive predictive values than private ENT specialists. However, after making two adjustments to the dataset, these differences were neutralised. Screening sensitivity was consistent across individual and grouped subspecialities.
CONCLUSIONS
RESA screening is a promising tool for timely diagnosis and treatment. The findings reveal that both private ENT specialists and medical audiologists may conduct RESA with high consistency and uniformity.
FUNDING
This research was funded by the Danish Health Data Authority and the North Denmark Region, but does not reflect their views. The study received no commercial support.
TRIAL REGISTRATION
Not relevant.
Topics: Adult; Humans; Hearing Aids; Hearing; Hearing Loss
PubMed: 38533878
DOI: 10.61409/A08230501 -
South African Medical Journal =... Mar 2024Local and international research has identified rural origin as an important reason why healthcare professionals (HCPs) work in rural areas, and in South Africa (SA)...
BACKGROUND
Local and international research has identified rural origin as an important reason why healthcare professionals (HCPs) work in rural areas, and in South Africa (SA) considerable effort has gone into recruiting and training rural-origin students. However, there is little information in the SA literature on where graduates supported by these initiatives work, and whether they contribute to the rural workforce long term.
OBJECTIVE
To determine the number of years that rural-origin Umthombo Youth Development Foundation (UYDF)-supported graduates of different disciplines worked at rural public healthcare facilities (PHCFs).
METHODS
A retrospective descriptive study reviewed work record data of 405 UYDF graduates, to calculate the number of years they worked at a rural PHCF. Data were analysed descriptively and presented in tables with totals and percentages.
RESULTS
Ninety percent (363/405) of UYDF-supported graduates returned to work at a rural PHCF. High percentages of social workers (85%), optometrists (80%), speech therapists, nurses (72%) and dental therapists (70%) worked for ≥5 years at a rural PHCF, while only 13% of audiologists, 14% of doctors, 29% of pharmacists, and 28% of dentists and occupational therapists worked at a rural PHCF for ≥5 years. Ten percent (42/405) of graduates did not work at a rural PHCF at all. A total of 110/124 (89%) of doctors supported by UYDF had worked at a rural PHCF, with 32% (40/124) working at a rural PHCF for ≥3 years. Overall, 54% of UYDF-supported graduates (219/405) worked for ≥3 years at a rural PHCF, and 38.5% (157/405) worked for ≥5 years at rural PHCFs. The majority of UYDF graduates had contributed towards long-term staffing of rural PHCFs. Lack of professional development opportunities at rural PHCFs as well as the reduced number of funded posts at rural PHCFs reduced the effectiveness of the UYDF initiative.
CONCLUSION
The UYDF Scholarship Scheme has shown that investment in rural students through a bonded scholarship can contribute to staffing rural PHCFs, as >90% of graduates worked at rural PHCFs, and for some disciplines >70% of graduates worked for ≥5 years at a rural PHCF. Allied HCPs worked on average for longer periods at rural PHCFs than doctors.
Topics: Adolescent; Humans; Fellowships and Scholarships; Retrospective Studies; South Africa; Health Personnel; Workforce; Rural Health Services
PubMed: 38525572
DOI: 10.7196/SAMJ.2024.v114i3.1608 -
Laryngoscope Investigative... Apr 2024Gaps in gender-based equity persist in academic otolaryngology. Here we present a needs-based assessment of otolaryngology faculty and trainees regarding facilitators...
OBJECTIVE
Gaps in gender-based equity persist in academic otolaryngology. Here we present a needs-based assessment of otolaryngology faculty and trainees regarding facilitators and barriers to professional satisfaction and career development in academic medicine.
METHODS
A qualitative study of otolaryngology faculty, trainees, and administrators who identify as women at an academic tertiary care center was performed from 2020 to 2021 using focus groups and semi-structured interviews. Five confidential, virtual focus group sessions moderated by a third-party executive coach were audio-taped, transcribed, and reviewed for thematic content.
RESULTS
Of 48 women invited, 77% participated (18 faculty/administrative leaders, 10 residents/fellows, 4 audiologists). Participants noted direct patient care, support from colleagues who identify as women, and the transition to virtual meetings as facilitators of current professional satisfaction. Five themes emerged as barriers to workplace satisfaction and career development including (1) limited professional schedule flexibility, (2) competing commitments such as childcare exacerbated by pandemic, (3) lack of visible departmental leadership who identify as women, (4) perceived lack of organic sponsorship within subspecialty divisions, and (5) frequent identity-associated microaggressions from patients and staff outside the department. Strategies identified for improving gender-based equity included (1) promoting department-wide awareness of workplace gender-based differences, (2) implicit bias training within established programming such as grand rounds conferences, and (3) novel faculty programming such as leadership development training and formal junior faculty mentorship.
CONCLUSION
Confidential needs-based assessment of otolaryngology faculty and trainees identified both persistent gaps and strategies to enhance recruitment, support career development, and grow professional satisfaction of women within academic otolaryngology.
LEVEL OF EVIDENCE
3.
PubMed: 38525113
DOI: 10.1002/lio2.1217 -
Patient Education and Counseling Jul 2024The study aimed to explore facilitators and barriers in delivering person-centered care from the perspective of speech-language pathologists and audiologists in a socio-...
Exploring facilitators and barriers for delivering person-centered care in a socio-economically diverse context: Perspectives of speech-language pathologists and audiologists.
OBJECTIVE
The study aimed to explore facilitators and barriers in delivering person-centered care from the perspective of speech-language pathologists and audiologists in a socio- economically diverse workplace across micro, meso, and macro levels.
METHOD
A national cross-sectional e-survey was conducted among pooled speech-language pathologists and/or audiologists from South Africa. The e-survey included quantitative components to describe participant demographics which was analysed using descriptive and inferential statistics. The qualitative data was analyzed using metaphor and thematic analysis approaches to describe respondents' perspectives of barriers and facilitators in delivering person-centered care.
RESULTS
The e-survey was completed by 63 clinicians (36.5% Audiologists; 36.5% Speech-Language Therapists; 27.0% dually qualified Speech-Language Therapists and Audiologists) mostly between the ages of 26 to 35 years old (33.3%). Respondents were working in various settings including the public sector (41.3%), private sector (44.4%) and in academia (14.3%). Facilitators and barriers were identified within all three systems (macro, meso and micro). The metaphor analysis resulted in six categories: uncertainty of Person centered care; its essential nature; associated challenges; relational aspect; analogies referring to animals; and food-related analogies. Thematic analysis of open-ended questions revealed five barriers, with three relating to micro systems; i) clinician factors, ii) client factors, iii) clinician and client interaction, and two related to factors within the meso system; iv) resources, and v) workplace. Only two themes were identified as facilitators towards PCC, clinician factors (mirco) and workplace factors (meso).'
CONCLUSIONS
Insights gained from exploring Speech-Language Pathologists' and Audiologists' perceptions of implementing PCC in a socio-economically diverse setting highlight the need to address contextual (meso and macro systems) and personal (micro system) factors to promote and deliver PCC effectively. Notably, for the public sector, resources emerged as a major concern and barrier on the macro system level. Despite these challenges, the investigation revealed two noteworthy facilitators: clinician factors, at the micro level, and workplace factors, at the meso level. This nuanced understanding emphasizes the necessity of tailored interventions targeting both individual and systemic aspects to enhance the successful implementation of person-centered care.
PRACTICAL IMPLICATIONS
Strategies should focus on enhancing clinicians' communication skills, collaboration, and teamwork, as well as addressing resource limitations through the adaptation of tools and implementation of PCC ISO standards.
Topics: Humans; Patient-Centered Care; Speech-Language Pathology; Adult; Female; Cross-Sectional Studies; Male; South Africa; Surveys and Questionnaires; Audiologists; Attitude of Health Personnel; Qualitative Research; Middle Aged; Workplace
PubMed: 38503035
DOI: 10.1016/j.pec.2024.108250 -
BMC Public Health Mar 2024Despite numerous studies that have explored the association between individual antioxidants or specific combinations and the risk of hearing loss, there is lack of...
BACKGROUND
Despite numerous studies that have explored the association between individual antioxidants or specific combinations and the risk of hearing loss, there is lack of information regarding the relationship between dietary total antioxidant capacity (dTAC) and hearing loss. The conflicting results on this association further highlight the need for more research in this area. This study aims to investigate the association between overall dietary antioxidant intake and the risk of hearing loss among Iranian adults.
METHODS
This cross-sectional study recruited 3443 adult participants aged between 19 and 67 years (with an average age of 41.4 years ± 8.8) who were employed at Tehran University of Medical Sciences in Iran. Participants underwent dietary assessment using a validated Food Frequency Questionnaire (FFQ). The hearing status of each participant was evaluated by a licensed audiologist in a soundproof room, using diagnostic audiometry that adhered to American National Standards specifications and followed standard audiometric clinical procedures. The dietary total antioxidant capacity (dTAC) was calculated using the Ferric Reducing-Antioxidant Power (FRAP) values.
RESULTS
43.6% of male participants had hearing loss, while 26.8% among female participants. After accounting for various confounding factors, no significant association was observed between higher levels of dTAC and reduced odds of hearing loss in the overall population. However, among men under the age of 40, higher levels of dTAC were associated with decreased odds of hearing loss, even after adjusting for several covariates (OR: 0.56, 95% CI: 0.31-1.02, Ptrend = 0.02). This relationship was not evident in men over 40 years of age or among women.
CONCLUSION
The study found an inverse relationship between higher antioxidant intake in the diet and lower odds of hearing loss, specifically among men who were 40 years old or younger. However, this relationship was not observed in the overall population or among women. Additional prospective studies are necessary to validate these results.
Topics: Adult; Humans; Male; Female; Middle Aged; Young Adult; Aged; Antioxidants; Cohort Studies; Prospective Studies; Cross-Sectional Studies; Iran; Diet; Hearing Loss
PubMed: 38491357
DOI: 10.1186/s12889-024-18108-6 -
ELife Mar 2024Preserved communication abilities promote healthy ageing. To this end, the age-typical loss of sensory acuity might in part be compensated for by an individual's...
Preserved communication abilities promote healthy ageing. To this end, the age-typical loss of sensory acuity might in part be compensated for by an individual's preserved attentional neural filtering. Is such a compensatory brain-behaviour link longitudinally stable? Can it predict individual change in listening behaviour? We here show that individual listening behaviour and neural filtering ability follow largely independent developmental trajectories modelling electroencephalographic and behavioural data of = 105 ageing individuals (39-82 y). First, despite the expected decline in hearing-threshold-derived sensory acuity, listening-task performance proved stable over 2 y. Second, neural filtering and behaviour were correlated only within each separate measurement timepoint (T1, T2). Longitudinally, however, our results raise caution on attention-guided neural filtering metrics as predictors of individual trajectories in listening behaviour: neither neural filtering at T1 nor its 2-year change could predict individual 2-year behavioural change, under a combination of modelling strategies.
Topics: Adult; Humans; Longevity; Aging; Brain; Auditory Perception; Benchmarking
PubMed: 38470243
DOI: 10.7554/eLife.92079