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International Journal of Molecular... Oct 2023With more than 466 million people affected, hearing loss represents the most common sensory pathology worldwide. Despite its widespread occurrence, much remains to be... (Review)
Review
With more than 466 million people affected, hearing loss represents the most common sensory pathology worldwide. Despite its widespread occurrence, much remains to be explored, particularly concerning the intricate pathogenic mechanisms underlying its diverse phenotypes. In this context, metabolomics emerges as a promising approach. Indeed, lying downstream from molecular biology's central dogma, the metabolome reflects both genetic traits and environmental influences. Furthermore, its dynamic nature facilitates well-defined changes during disease states, making metabolomic analysis a unique lens into the mechanisms underpinning various hearing impairment forms. Hence, these investigations may pave the way for improved diagnostic strategies, personalized interventions and targeted treatments, ultimately enhancing the clinical management of affected individuals. In this comprehensive review, we discuss findings from 20 original articles, including human and animal studies. Existing literature highlights specific metabolic changes associated with hearing loss and ototoxicity of certain compounds. Nevertheless, numerous critical issues have emerged from the study of the current state of the art, with the lack of standardization of methods, significant heterogeneity in the studies and often small sample sizes being the main limiting factors for the reliability of these findings. Therefore, these results should serve as a stepping stone for future research aimed at addressing the aforementioned challenges.
Topics: Animals; Humans; Reproducibility of Results; Hearing Loss; Deafness; Metabolomics; Metabolome
PubMed: 37894867
DOI: 10.3390/ijms242015188 -
Orthopaedics & Traumatology, Surgery &... Sep 2022The application of antibiotics loaded bone cement (ALBC) in the revision of failed total knee arthroplasty (TKA) has been widely accepted to reduce risk of... (Meta-Analysis)
Meta-Analysis Review
INTRODUCTION
The application of antibiotics loaded bone cement (ALBC) in the revision of failed total knee arthroplasty (TKA) has been widely accepted to reduce risk of peri-prosthetic infection. However, the prophylactic use of ALBC in primary TKA remains controversial. This study was aimed to identify the prophylactic effect on peri-prosthetic infection and safety of ALBC in primary TKA.
HYPOTHESIS
The application of ALBC could reduce the risk of peri-prosthetic infection in primary TKA.
MATERIALS AND METHODS
Electronic platforms including PubMed, EMBASE, and CENTRAL were retrieved to identify studies comparing outcomes of prophylactic ALBC and plain cement in primary TKA. For outcomes reported as dichotomous variable and continuous variable, risk ratio (RR) and weighted mean difference (WMD) as well as their 95% confidence intervals (95% CI) were selected as the effect sizes for pooling. While for those outcomes reported the adjusted effect sizes such as odds ratio (OR, derived from multivariate logistic regression), and hazard ratio (HR, derived from multivariate COX proportional hazard model), the reported effect sizes were selected for pooling.
RESULTS
A total of 17 studies with 2,074,844 patients (1,093,920 in ALBC group and 980,924 in plain cement group) were eligible for final inclusion. No significant difference was found between ALBC and plain cement groups both for the unadjusted (RR=1.02, 95% CI: 0.86∼1.21, p=0.832) and adjusted (OR=0.94, 95% CI: 0.76∼1.17, p=0.596) peri-prosthetic infection rate. ALBC application was related to significantly increased length of hospital stay (WMD=0.13, 95% CI: 0.10∼0.17, p<0.001). There was no significance on the difference of operation related adverse events between two groups (RR=1.31, 95% CI: 0.68∼2.52, p=0.420). Significantly increased risks of acute renal failure and readmission, and temporarily increased ototoxicity in ALBC group were reported in one of the primary study.
DISCUSSION
There is no sufficient evidence supporting decreased peri-prosthetic infection rate with ALBC application in primary TKA. What's more, it must be taken into consideration about the safety and added cost of additional impregnated antibiotics.
LEVEL OF EVIDENCE
III; meta-analysis.
Topics: Anti-Bacterial Agents; Arthroplasty, Replacement, Knee; Bone Cements; Humans; Length of Stay; Prosthesis-Related Infections
PubMed: 35552043
DOI: 10.1016/j.otsr.2022.103295 -
The Journal of International Advanced... Jan 2021Sudden sensorineural hearing loss (SSNHL) is defined as hearing loss of ≥30 dB in one or both ears, developing within 3 days, affecting ≥3 contiguous frequencies. It...
Sudden sensorineural hearing loss (SSNHL) is defined as hearing loss of ≥30 dB in one or both ears, developing within 3 days, affecting ≥3 contiguous frequencies. It is rare in children, but if untreated can cause significant morbidity. During the critical developmental period, it may cause lifelong social, behavioral, and mental sequelae. Currently, little guidance exists on prognosis and management within a pediatric population. A systematic literature review of pediatric SSNHL on PubMed, EMBASE, and the Cochrane CENTRAL database was performed according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses recommendations. A total of 620 papers met the Medical Subject Headings criteria, of which 14 met analysis criteria-13 were level 4 and 1 was level 2b evidence. A population of 732 individuals was analyzed. Most reported cases of pediatric SSNHL were idiopathic. Other etiologies included viral infection, trauma, ototoxic drugs, and structural abnormalities. Recovery was defined as any improvement in hearing after the initial loss, from "slight" to "complete." Recovery ranged from 20% to 100%, with a pooled rate of 56%. Systemic steroids were the mainstay of treatment, although salvage intratympanic steroid therapy had a role after the failure of systemic steroids. Children with bilateral SSNHL had poorer outcomes than those with unilateral loss, with 29% showing improvement. Two studies reported outcomes with no treatment, for which recovery rate was 7%. This analysis of SSNHL shows that 61% of children with unilateral and 29% of children with bilateral SSNHL demonstrate some recovery, a worse prognosis than adults. Multiple treatment regimens exist, although comparison is challenging owing to inconsistently reported improvement parameters.
Topics: Adolescent; Child; Hearing; Hearing Loss, Sensorineural; Hearing Loss, Sudden; Humans; Pharmaceutical Preparations; Retrospective Studies
PubMed: 33605224
DOI: 10.5152/iao.2020.8902 -
Audiology & Neuro-otology 2022The purpose of this review was to summarize the literature regarding the effects of opioids and illicit drugs on the auditory and vestibular systems.
BACKGROUND
The purpose of this review was to summarize the literature regarding the effects of opioids and illicit drugs on the auditory and vestibular systems.
METHODS
Data were sourced from published papers reporting hearing loss (HL) and/or vestibular loss (VL) following misuse or overdose of opioids or illicit drugs. Most papers consisted of retrospective single-case reports, with few retrospective reviews or prospective cohort studies. Search terms included variations of HL, VL, opioids, and illicit drugs. Search results yielded 51 articles published between 1976 and 2021. A total of 44 articles were reviewed after excluding studies that were not available in English (n = 3), only described acute effects in healthy cohorts (n = 3) or only described general health aspects in a group on methadone maintenance (n = 1).
RESULTS
Sixteen studies reported ototoxicity from illicit drugs, 27 from prescription opioids, and 1 was unspecified. This review shows that HL associated with amphetamines and cocaine was typically sudden, bilateral, and temporary. HL from cocaine/crack and heroin often presented with greatest losses in the mid-frequency range. HL associated with opioids was typically sudden, bilateral, moderately severe to profound, and in most cases permanent. The literature is sparse regarding VL from illicit drugs and opioids.
CONCLUSION
Practitioners who see patients for sudden or rapidly progressive HL or VL with no apparent cause should inquire about misuse of illicit drugs and opioids, particularly when the HL does not respond to steroid treatment.
Topics: Analgesics, Opioid; Cocaine; Hearing; Hearing Loss; Humans; Illicit Drugs; Prospective Studies; Retrospective Studies
PubMed: 35172308
DOI: 10.1159/000521965 -
Frontiers in Psychology 2023Congenital toxoplasmosis (CT) occurs mainly by primary maternal infection during pregnancy. It is estimated that the incidence of vertical transmission to the fetus is...
BACKGROUND
Congenital toxoplasmosis (CT) occurs mainly by primary maternal infection during pregnancy. It is estimated that the incidence of vertical transmission to the fetus is 20% and that infected women are more likely to have a premature birth or low birth weight neonate since there is an association between CT and the rate of premature birth and low birth weight. In addition to severe neurological and ophthalmic consequences, hearing disorders such as hearing loss are also among the clinical manifestations seen in children with CT. Given the above, the objective of this study is to verify what are the auditory disorders seen in children with CT.
METHODS
This literature review was structured according to the PRISMA statement and based on the terms of Study Target Population, Intervention, Comparison, Outcomes, and Study Types (PICOS). To obtain the studies, the following electronic databases were consulted: PubMed, Web of Science, Scopus, and Lilacs. The combined terms used for the search were: ("auditory evoked potentials" OR "hearing" OR "hearing loss") AND ("congenital toxoplasmosis"). The selection of articles was carried out independently, blindly, by two of the authors, to minimize risk of bias.
RESULTS
The search in the databases identified 172 articles, after excluding duplicate articles, 105 studies were identified. From the selection made by reading the titles and abstracts, 11 studies were selected for full-text reading. A total of 94 studies were excluded. An article was selected from the list of references. Therefore, 12 studies were included in the final analysis. It was observed that a significant percentage of studies sought to study the peripheral auditory pathway, verifying the occurrence or association between hearing loss and the presence of congenital infection. Only two studies evaluated the central auditory pathway, using the Brainstem Auditory Evoked Potential (BAEP) and the Frequency Following Response (FFR).
CONCLUSION
Toxoplasmosis affects not only the peripheral areas but central areas as well. Most studies suggest this pathology as a risk factor for both peripheral and central impairment. Research has found a greater association between CT and mild to moderate hearing loss, in addition to alterations in exams such as BAEP and FFR. These data recommend that CT be reported as a global public health problem and can help assess complications and impacts of hearing disorders as a result of CT. There is a gap about studies that retract the co-occurrence between CT and other Risk Indicators for Hearing Loss (RIHL), such as prematurity, permanence in the intensive care unit, and use of ototoxic medications, lack of longitudinal studies, that accompany the development of hearing and language of children with CT, since the consequences of this infection may be late.
PubMed: 38298366
DOI: 10.3389/fpsyg.2023.1286211 -
The International Tinnitus Journal Mar 2021Prevalence of tinnitus range from 7.1% to 14.6% (National Center for Health Statistics, 2016), but the mechanisms responsible for the development of this abnormal...
INTRODUCTION
Prevalence of tinnitus range from 7.1% to 14.6% (National Center for Health Statistics, 2016), but the mechanisms responsible for the development of this abnormal sensory state remain poorly understood.
OBJECTIVES
To determine the evidence for different etiologies and pathophysiology of tinnitus identified by clinical diagnostic tests in the adult population.
STUDY DESIGN
Systematic literature review.
METHODS
Review of data base using PRISMA guidelines: Google Scholar, Medline, Springer Link, Pubmed. In addition, manual reference search of identified papers. Randomized controlled trials, case control study, prospective cohort studies, and retrospective reviews of consecutive patients in which clear data were reported with respect to etiology and pathophysiology of tinnitus.
RESULTS
Sixty seven articles met the inclusion criteria. The papers searched recent studies from 2004 to 2018 for different etiologies such as noise exposure, age, ototoxic drugs, hearing loss among patients with tinnitus. Multiple pathophysiology were identified, including inner ear pathology, auditory nerve synchronisation, central nervous system anomalies and limbic and autonomous nervous system problems. The group of papers evaluated tinnitus patients with specific diagnostic tests such as pure tone audiometry, Immitance audiometry, otoacoustic emission, Auditory brainstem response and diagnostic imaging of fMRI, MRI and PET study.
CONCLUSIONS
The results indicate a high level of heterogeneity between the studies for all the assessed areas. These results support the need for greater stratification of the tinnitus population and the importance of a standardized Puretone audiometry with extended high frequency, OAE, ABR and diagnostic imaging (fMRI, MRI & PET) method to make comparisons between studies possible. Diagnostic imaging is an important useful method for identification of intracranial pathology that can present with tinnitus as a primary symptom. Establishment of a direct causal link between tinnitus and these etiologies and pathophysiology remains elusive.
Topics: Adult; Audiometry, Pure-Tone; Case-Control Studies; Humans; Prospective Studies; Retrospective Studies; Tinnitus
PubMed: 34410084
DOI: 10.5935/0946-5448.20210015 -
The Cochrane Database of Systematic... Jan 2020Chronic suppurative otitis media (CSOM), sometimes referred to as chronic otitis media (COM), is a chronic inflammation and infection of the middle ear and mastoid... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Chronic suppurative otitis media (CSOM), sometimes referred to as chronic otitis media (COM), is a chronic inflammation and infection of the middle ear and mastoid cavity, characterised by ear discharge (otorrhoea) through a perforated tympanic membrane. The predominant symptoms of CSOM are ear discharge and hearing loss. Topical antiseptics, one of the possible treatments for CSOM, inhibit the micro-organisms that may be responsible for the infection. Antiseptics can be used alone or in addition to other treatments for CSOM, such as antibiotics or ear cleaning (aural toileting). Antiseptics or their application can cause irritation of the skin of the outer ear, manifesting as discomfort, pain or itching. Some antiseptics (such as alcohol) may have the potential to be toxic to the inner ear (ototoxicity), with a possible increased risk of causing sensorineural hearing loss, dizziness or tinnitus.
OBJECTIVES
To assess the effects of topical antiseptics for people with chronic suppurative otitis media.
SEARCH METHODS
The Cochrane ENT Information Specialist searched the Cochrane ENT Register; Central Register of Controlled Trials (CENTRAL; 2019, Issue 4, via the Cochrane Register of Studies); Ovid MEDLINE; Ovid Embase; CINAHL; Web of Science; ClinicalTrials.gov; ICTRP and additional sources for published and unpublished trials. The date of the search was 1 April 2019.
SELECTION CRITERIA
We included randomised controlled trials (RCTs) with at least a one-week follow-up involving patients (adults and children) who had chronic ear discharge of unknown cause or CSOM, where the ear discharge had continued for more than two weeks. The interventions were any single, or combination of, topical antiseptic agent of any class, applied directly into the ear canal as ear drops, powders or irrigations, or as part of an aural toileting procedure. Two main comparisons were topical antiseptics compared to: a) placebo or no intervention; and b) another topical antiseptic (e.g. topical antiseptic A versus topical antiseptic B). Within each comparison we separated studies where both groups of patients had received topical antiseptics a) alone or with aural toileting and b) on top of antibiotic treatment.
DATA COLLECTION AND ANALYSIS
We used the standard Cochrane methodological procedures. We used GRADE to assess the certainty of the evidence for each outcome. Our primary outcomes were: resolution of ear discharge or 'dry ear' (whether otoscopically confirmed or not), measured at between one week and up to two weeks, two weeks to up to four weeks, and after four weeks; health-related quality of life using a validated instrument; ear pain (otalgia) or discomfort or local irritation. Secondary outcomes included hearing, serious complications and ototoxicity measured in several ways.
MAIN RESULTS
Five studies were included. It was not possible to calculate the total number of participants as two studies only provided the number of ears included in the study. A. Topical antiseptic (boric acid) versus placebo or no treatment (all patients had aural toileting) Three studies compared topical antiseptics with no treatment, with one study reporting results we could use (254 children; cluster-RCT). This compared the instillation of boric acid in alcohol drops versus no ear drops for one month (both arms used daily dry mopping). We made adjustments to the data to account for the intra-cluster correlation. The very low certainty of the evidence means it is uncertain whether or not treatment with an antiseptic leads to an increase in resolution of ear discharge at both four weeks (risk ratio (RR) 1.94, 95% confidence interval (CI) 1.20 to 3.16; 174 participants) and at three to four months (RR 1.73, 95% CI 1.21 to 2.47; 180 participants). This study narratively described no differences in suspected ototoxicity or hearing outcomes between the arms (very low-certainty evidence). None of the studies reported results for health-related quality of life, adverse effects or serious complications. B. Topical antiseptic A versus topical antiseptic B Two studies compared different antiseptics but only one (93 participants), comparing a single instillation of boric acid powder with daily acetic acid ear drops, provided any information for this comparison. The very low certainty of the evidence means that it is uncertain whether more patients had resolution of ear discharge with boric acid powder compared to acetic acid at four weeks (RR 2.61, 95% CI 1.51 to 4.53; 93 participants), or whether there was a difference between the arms with respect to ear discomfort due to the low number of reported events (RR 0.10, 95% CI 0.01 to 1.81; 93 participants). Narratively, the study reported no difference in hearing outcomes between the groups. None of the included studies reported any of the other primary or secondary outcomes.
AUTHORS' CONCLUSIONS
Due to paucity of the evidence and the very low certainty of that which is available the effectiveness and safety profile of antiseptics in the treatment of CSOM is uncertain.
Topics: Administration, Topical; Anti-Infective Agents, Local; Chronic Disease; Humans; Otitis Media, Suppurative; Randomized Controlled Trials as Topic; Treatment Outcome
PubMed: 31902140
DOI: 10.1002/14651858.CD013055.pub2 -
The Cochrane Database of Systematic... Aug 2020Chronic suppurative otitis media (CSOM) is a chronic inflammation and often polymicrobial infection of the middle ear and mastoid cavity, characterised by ear discharge... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Chronic suppurative otitis media (CSOM) is a chronic inflammation and often polymicrobial infection of the middle ear and mastoid cavity, characterised by ear discharge (otorrhoea) through a perforated tympanic membrane. The predominant symptoms of CSOM are ear discharge and hearing loss. Topical antibiotics act to kill or inhibit the growth of micro-organisms that may be responsible for the infection. Antibiotics can be used alone or in addition to other treatments for CSOM, such as steroids, antiseptics or ear cleaning (aural toileting). Antibiotics are commonly prescribed in combined preparations with steroids.
OBJECTIVES
To assess the effects of adding a topical steroid to topical antibiotics in the treatment of people with chronic suppurative otitis media (CSOM).
SEARCH METHODS
The Cochrane ENT Information Specialist searched the Cochrane ENT Register; Central Register of Controlled Trials (CENTRAL via the Cochrane Register of Studies); Ovid MEDLINE; Ovid Embase; CINAHL; Web of Science; ClinicalTrials.gov; ICTRP and additional sources for published and unpublished trials. The date of the search was 16 March 2020.
SELECTION CRITERIA
We included randomised controlled trials (RCTs) with at least a one-week follow-up involving participants (adults and children) who had chronic ear discharge of unknown cause or CSOM, where the ear discharge had continued for more than two weeks. The interventions were any combination of a topical antibiotic agent(s) of any class and a topical corticosteroid (steroid) of any class, applied directly into the ear canal as ear drops, powders or irrigations, or as part of an aural toileting procedure. The two main comparisons were topical antibiotic and steroid compared to a) placebo or no intervention and b) another topical antibiotic.
DATA COLLECTION AND ANALYSIS
We used the standard Cochrane methodological procedures. We used GRADE to assess the certainty of the evidence for each outcome. Our primary outcomes were: resolution of ear discharge or 'dry ear' (whether otoscopically confirmed or not), measured at between one week and up to two weeks, two weeks to up to four weeks and after four weeks; health-related quality of life; ear pain (otalgia) or discomfort or local irritation. Secondary outcomes included hearing, serious complications and ototoxicity.
MAIN RESULTS
We included 17 studies addressing 11 treatment comparisons. A total of 1901 participants were included, with one study (40 ears) not reporting the number of participants recruited, which we therefore could not account for. No studies reported health-related quality of life. The main comparisons were: 1. Topical antibiotics with steroids versus placebo or no treatment Three studies (210 participants) compared a topical antibiotic-steroid to saline or no treatment. Resolution of discharge was not reported at between one to two weeks. One study (50 'high-risk' children) reported results at more than four weeks by ear and we could not adjust the results to by person. The study reported that 58% (of 41 ears) resolved with topical antibiotics compared with 50% (of 26 ears) with no treatment, but the evidence is very uncertain. One study (123 participants) noted minor side effects in 16% of participants in both the intervention and placebo groups (very low-certainty evidence). One study (123 participants) reported no change in bone-conduction hearing thresholds and reported no difference in tinnitus or balance problems between groups (very low-certainty evidence). One study (50 participants) reported serious complications, but it was not clear which group these patients were from, or whether the complications occurred pre- or post-treatment. One study (123 participants) reported that no side effects occurred in any participants (very low-certainty evidence). 2. Topical antibiotics with steroids versus topical antibiotics (same antibiotics) only Four studies (475 participants) were included in this comparison. Three studies (340 participants) compared topical antibiotic-steroid combinations to topical antibiotics alone. The evidence suggests little or no difference in resolution of discharge at one to two weeks: 82.7% versus 76.6% (risk ratio (RR) 1.08, 95% confidence interval (CI) 0.96 to 1.21; 335 participants; 3 studies (4 study arms); low-certainty evidence). No results for resolution of discharge after four weeks were reported. One study (110 participants) reported local itchiness but as there was only one episode in each group it is uncertain whether there is a difference (very low-certainty evidence). Three studies (395 participants) investigated suspected ototoxicity but it was not possible to determine whether there were differences between the groups for this outcome (very low-certainty evidence). No study reported serious complications. 3. Topical antibiotics with steroids compared to topical antibiotics alone (different antibiotics) Nine studies (981 participants plus 40 ears) evaluated a range of comparisons of topical non-quinolone antibiotic-steroid combinations versus topical quinolone antibiotics alone. Resolution of discharge may be greater with quinolone topical antibiotics alone at between one to two weeks compared with non-quinolone topical antibiotics with steroids: 82.1% versus 63.2% (RR 0.77, 95% CI 0.71 to 0.84; 7 studies; 903 participants, low-certainty evidence). Results for resolution of ear discharge after four weeks were not reported. One study (52 participants) reported usable data on ear pain, two studies (419 participants) reported hearing outcomes and one study (52 participants) reported balance problems. It was not possible to determine whether there were significant differences between the groups for these outcomes (very low-certainty evidence). Two studies (149 participants) reported no serious complications (very low-certainty evidence).
AUTHORS' CONCLUSIONS
We are uncertain about the effectiveness of topical antibiotics with steroids in improving the resolution of ear discharge in patients with CSOM because of the limited amount of low-certainty evidence available. Amongst this uncertainty, we found no evidence that the addition of steroids to topical antibiotics affects the resolution of ear discharge. There is also low-certainty evidence that some types of topical antibiotics (without steroids) may be better than topical antibiotic/steroid combinations in improving resolution of discharge. There is also uncertainty about the relative effectiveness of different types of antibiotics; it is not possible to determine with any certainty whether or not quinolones are better or worse than aminoglycosides. These two groups of compounds have different adverse effect profiles, but there is insufficient evidence from the included studies to make any comment about these. In general, adverse effects were poorly reported.
PubMed: 35659673
DOI: 10.1002/14651858.CD013054.pub2 -
Current Medicinal Chemistry May 2023Ototoxicity is one of the major adverse effects of cisplatin therapy which restrict its clinical application. Alpha-lipoic acid administration may mitigate...
PURPOSE
Ototoxicity is one of the major adverse effects of cisplatin therapy which restrict its clinical application. Alpha-lipoic acid administration may mitigate cisplatin-induced ototoxicity. In the present study, we reviewed the protective potentials of alpha-lipoic acid against the cisplatin-mediated ototoxic adverse effects.
METHODS
Based on the PRISMA guideline, we performed a systematic search for the identification of all relevant studies in various electronic databases up to June 2022. According to the inclusion and exclusion criteria, the obtained articles (n=59) were screened and 13 eligible articles were finally included in the present study.
RESULTS
The findings of in-vitro experiments showed that cisplatin treatment significantly reduced the auditory cell viability in comparison with the control group; nevertheless, the alpha-lipoic acid co-administration protected the cells against the reduction of cell viability induced by cisplatin treatment. Moreover, the in-vivo results of the auditory brainstem response (ABR) and distortion product otoacoustic emission (DPOAE) tests revealed a decrease in DPOAE and an increase in ABR threshold of cisplatin-injected animals; however, it was shown that alpha-lipoic acid co-treatment had an opposite pattern on the evaluated parameters. Other findings demonstrated that cisplatin treatment could significantly induce the biochemical and histopathological alterations in inner ear cells/tissue; in contrast, alpha-lipoic acid co-treatment ameliorated the cisplatin-mediated biochemical and histological changes.
CONCLUSION
The findings of audiometry, biochemical parameters, and histological evaluation showed that alpha-lipoic acid co-administration alleviates the cisplatin-induced ototoxicity. The protective role of alpha-lipoic acid against the cisplatin-induced ototoxicity can be due to different mechanisms of anti-oxidant, anti-apoptotic, anti-inflammatory activities, and regulation of cell cycle progression.
PubMed: 37165582
DOI: 10.2174/0929867330666230509162513 -
Omics : a Journal of Integrative Biology Jan 2022Hearing impairment (HI) is a silent planetary health crisis that requires attention worldwide. The prevalence of HI in South Africa is estimated as 5.5 in 100 live...
Hearing impairment (HI) is a silent planetary health crisis that requires attention worldwide. The prevalence of HI in South Africa is estimated as 5.5 in 100 live births, which is about 5 times higher than the prevalence in high-income countries. This also offers opportunity to drive progressive science, technology and innovation policy, and health systems. We present here a systematic analysis and review on the prevalence, etiologies, clinical patterns, and genetics/genomics of HI in South Africa. We searched PubMed, Scopus, African Journals Online, AFROLIB, and African Index Medicus to identify the pertinent studies on HI in South Africa, published from inception to April 30, 2021, and the data were summarized narratively. We screened 944 records, of which 27 studies were included in the review. The age at diagnosis is ∼3 years of age and the most common factor associated with acquired HI was middle ear infections. There were numerous reports on medication toxicity, with kanamycin-induced ototoxicity requiring specific attention when considering the high burden of tuberculosis in South Africa. The Waardenburg Syndrome is the most common reported syndromic HI. The Usher Syndrome is the only syndrome with genetic investigations, whereby a founder mutation was identified among black South Africans (-c.6377delC). and genes are not major contributors to nonsyndromic HI among Black South Africans. Furthermore, emerging data using targeted panel sequencing have shown a low resolution rate in Black South Africans in known HI genes. Importantly, mutations in known nonsyndromic HI genes are infrequent in South Africa. Therefore, whole-exome sequencing appears as the most effective way forward to identify variants associated with HI in South Africa. Taken together, this article contributes to the emerging field of planetary health genomics with a focus on HI and offers new insights and lessons learned for future roadmaps on genomics/multiomics and clinical studies of HI around the world.
Topics: Deafness; Genomics; Hearing Loss; Humans; Mutation; South Africa
PubMed: 35041532
DOI: 10.1089/omi.2021.0181