Research Articles (Otorhinolaryngology)

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Allergic rhinitis : review of the diagnosis and management : South African Allergic Rhinitis Working Group
(AOSIS, 2023-10-30) Richards, Guy A.; Gray, Claudia L.; De Waal, Pieter; Friedman, Ray; Hockman, Maurice; Karabus, Sarah J.; Lodder, Cornelia M.; Mabelane, Tshegofatso; Mosito, Sylvia M.; Nanan, Ashen; Peter, Jonny G.; Quitter, Traugott H.C.; Van den Berg, Sylvia; Van Niekerk, Andre; Vardas, Eftyhia; Feldman, Charles
BACKGROUND : Allergic rhinitis (AR) has a significant impact on the community as a whole with regard to quality of life and its relationship to allergic multi-morbidities. Appropriate diagnosis, treatment and review of the efficacy of interventions can ameliorate these effects. Yet, the importance of AR is often overlooked, and appropriate therapy is neglected. The availability of effective medications and knowledge as to management are often lacking in both public and private health systems. METHODS : This review is based on a comprehensive literature search and detailed discussions by the South African Allergic Rhinitis Working Group (SAARWG). RESULTS : The working group provided up-to-date recommendations on the epidemiology, pathology, diagnosis and management of AR, appropriate to the South African setting. CONCLUSION : Allergic rhinitis causes significant, often unappreciated, morbidity. It is a complex disease related to an inflammatory response to environmental allergens. Therapy involves education, evaluation of allergen sensitisation, pharmacological treatment, allergen immunotherapy (AIT) and evaluation of the success of interventions. Regular use of saline; the important role of intranasal corticosteroids, including those combined with topical antihistamines and reduction in the use of systemic steroids are key. Practitioners should have a thorough knowledge of associated morbidities and the need for specialist referral. CONTRIBUTION : This review summarises the latest developments in the diagnosis and management of AR such that it is a resource that allows easy access for family practitioners and specialists alike.
The application of xylocaine 10% pump-spray to improve immediate post-adenotonsillectomy pain in children : a randomized controlled trial
(Elsevier, 2022-10) Opperman, Jacobus B.; Tshifularo, Mashudu
INTRODUCTION : Post-adenotonsillectomy pain is often severe, requiring substantial analgesia in the first 48–72 h. This pain is not only distressing to the patient and his or her parents, but often reflects poorly on an otherwise well performed procedure. Safe, simple and effective post-adenotonsillectomy pain control is still clinically elusive, even though a multitude of surgical and analgesic interventions have been proposed. OBJECTIVES : To investigate the analgesic properties of immediate post-operative application of xylocaine 10% pump spray to the tonsillar fossae in children having undergone adenotonsillectomy and how this impacts on anesthetic emergence and pain control in the first 24-h. METHODS : In this double-blinded, randomized, placebo-controlled trial, 80 children were stratified into two groups: Group I (3-8 years-old) and Group II (9–14 years-old). Within these groups, participants were randomized to receive either xylocaine 10% pump spray or normal saline 0.9% post-operatively. A standardized anesthetic/analgesic regime was used intra-operatively. The same surgeon performed all surgeries using bi-polar diathermy. Outcome variables included state of anesthetic emergence; pain scores at specific intervals; need for rescue analgesia; post-operative nausea and vomiting; time to first oral intake and comfort associated with initial oral intake. RESULTS : Xylocaine 10% pump spray consistently provided superior pain control at all time intervals compared to normal saline 0.9% (p = 0.011). This was most pronounced in children 3–8 years old (Group I). Xylocaine 10% pump spray and normal saline 0.9% provided similar pain relief in children 9–14 years old (Group (II) (p = 0.640). Children receiving xylocaine had a decreased incidence of emergence delirium and consistently required less rescue analgesia (p = 0.005). Children who received xylocaine did not eat sooner post-operatively, but they experienced less pain when ingesting liquids (p = 0.003) and solids (p = 0.000). Children who received xylocaine did not experience increased post-operative complications (p = 1.000) or nausea and vomiting (p = 0.153). CONCLUSION : Xylocaine 10% spray may serve as a valuable adjunct to effective pain control post-adenotonsillectomy, especially if long acting opioids are contraindicated, as with patients with obstructive sleep apnea. The benefit of xylocaine appears to be negligible when a long acting opioid is administered. The benefits of xylocaine were most noteworthy in children aged 3–8 years old. This is the largest trial (n = 80) to date to assess the efficacy of xylocaine spray in isolation post-adenotonsillectomy. Xylocaine also offers improved comfort with oral intake and decreases emergence delirium and need for rescue analgesia without any increase in post-operative complications. Local anesthesia may decrease costs and help to solve the conundrum of a painless adenotonsillectomy especially in resource-limited settings.
AI and precision oncology in clinical cancer genomics : from prevention to targeted cancer therapies-an outcomes based patient care
(Elsevier, 2022) Dlamini, Zodwa; Skepu, Amanda; Kim, Namkug; Mkhabele, Mahlori; Khanyile, Richard; Molefi, Thulo; Mbatha, Sikhumbuzo; Setlai, Botle; Mulaudzi, Thanyani Victor; Mabongo, Mzubanzi; Bida, Nndweleni Meshack; Kgoebane-Maseko, Minah; Mathabe, Kgomotso; Lockhat, Zarina I.; Kgokolo, C.M.; Chauke-Malinga, Nkhensani; Ramagaga, Serwalo; Hull, Rodney; zodwa.dlamini@up.ac.za
Precision medicine is the personalization of medicine to suit a specific group of people or even an individual patient, based on genetic or molecular profiling. This can be done using genomic, transcriptomic, epigenomic or proteomic information. Personalized medicine holds great promise, especially in cancer therapy and control, where precision oncology would allow medical practitioners to use this information to optimize the treatment of a patient. Personalized oncology for groups of individuals would also allow for the use of population group specific diagnostic or prognostic biomarkers. Additionally, this information can be used to track the progress of the disease or monitor the response of the patient to treatment. This can be used to establish the molecular basis for drug resistance and allow the targeting of the genes or pathways responsible for drug resistance. Personalized medicine requires the use of large data sets, which must be processed and analysed in order to identify the particular molecular patterns that can inform the decisions required for personalized care. However, the analysis of these large data sets is difficult and time consuming. This is further compounded by the increasing size of these datasets due to technologies such as next generation sequencing (NGS). These difficulties can be met through the use of artificial intelligence (AI) and machine learning (ML). These computational tools use specific neural networks, learning methods, decision making tools and algorithms to construct and improve on models for the analysis of different types of large data sets. These tools can also be used to answer specific questions. Artificial intelligence can also be used to predict the effects of genetic changes on protein structure and therefore function. This review will discuss the current state of the application of AI to omics data, specifically genomic data, and how this is applied to the development of personalized or precision medicine on the treatment of cancer.
Elucidation of repeat motifs R1- and R2-related TRIOBP variants in autosomal recessive nonsyndromic hearing loss DFNB28 among indigenous South African individuals
(Wiley Open Access, 2022-10) Kabahuma, Rosemary Ida; Schubert, Wolf-Dieter; Labuschagne, Christiaan; Yan, Denise; Pepper, Michael Sean; Liu, Xue-Zhong; rosemary.kabahuma@up.ac.za
BACKGROUND : DFNB28, a recessively inherited nonsyndromic form of deafness in humans, is caused by mutations in the TRIOBP gene (MIM #609761) on chromosome 22q13. Its protein TRIOBP helps to tightly bundle F-actin filaments, forming a rootlet that penetrates through the cuticular plate into the cochlear hair cell body. Repeat motifs R1 and R2, located in exon 7 of the TRIOBP-5 isoform, are the actin-binding domains. Deletion of both repeat motifs R1 and R2 results in complete disruption of both actin-binding and bundling activities, whereas deletion of the R2 motif alone retains F-actin bundling ability in stereocilia rootlets. METHODS : Target sequencing, using a custom capture panel of 180 known and candidate genes associated with sensorineural hearing loss, bioinformatics processing, and data analysis were performed. Genesis 2.0 was used for variant filtering based on quality/score read depth and minor allele frequency (MAF) thresholds of 0.005 for recessive NSHL, as reported in population-based sequencing databases. All variants were reclassified based on the American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) guidelines together with other variant interpretation guidelines for genetic hearing loss . Candidate variants were confirmed via Sanger sequencing according to standard protocols, using the ABIPRISM 3730 DNA Analyzer. DNA sequence analysis was performed with DNASTAR Lasergene software. RESULTS : Candidate TRIOBP variants identified among 94 indigenous sub-Saharan African individuals were characterized through segregation analysis. Family TS005 carrying variants c.572delC, p.Pro191Argfs*50, and c.3510_3513dupTGCA, p.Pro1172Cysfs*13, demonstrated perfect cosegregation with the deafness phenotype. On the other hand, variants c.505C > A p.Asp168Glu and c.3636 T > A p.Leu1212Gln in the same family did not segregate with deafness and we have classified these variants as benign. A control family, TS067, carrying variants c.2532G > T p.Leu844Arg, c.2590C > A p.Asn867Lys, c.3484C > T p.Pro1161Leu, and c.3621 T > C p.Phe1187Leu demonstrated no cosegregation allowing us to classify these variants as benign. Together with published TRIOBP variants, the results showed that genotypes combining two truncating TRIOBP variants affecting repeat motifs R1 and R2 or R2 alone lead to a deafness phenotype, while a truncating variant affecting repeat motifs R1 and R2 or R2 alone combined with a missense variant does not. Homozygous truncating variants affecting repeat motif R2 cosegregate with the deafness phenotype. CONCLUSION : While a single intact R1 motif may be adequate for actin-binding and bundling in the stereocilia of cochlear hair cells, our findings indicate that a truncated R2 motif in cis seems to be incompatible with normal hearing, either by interfering with the function of an intact R1 motif or through another as yet unknown mechanism. Our study also suggests that most heterozygous missense variants involving exon 7 are likely to be tolerated.
Tympanoplasty success based on surgeon and patient-reported outcomes perspectives : a 10-year review in a tertiary center
(SpringerOpen, 2022-01-28) Tshifularo, Mashudu; mashudu.tshifularo@up.ac.za
BACKGROUND : The latest international trends in healthcare put more emphasis on patients’ perspectives in reporting success in surgical procedures. A holistic approach in measuring surgical outcomes, defined as global success, should include the patient’s perioperative experiences, expectations, and outcome measures. In published literature, surgeons propose several definitions of post-operative successful surgical outcomes following tympanoplasty. Most surgical outcomes and the surgeon’s definition of success exclude the patient’s perspectives. Patient-reported outcomes would allow surgeons to understand and measure the benefit of the several procedures performed from the perspective of the patients. Current definitions of successful tympanoplasty do not capture patient reported outcomes which are important to patients. A divergence is frequently found between outcomes relevant to the patient and to the surgeon. Patient-reported outcomes would complement traditionally measured clinical outcomes by the surgeon to give a true global outcome measuring success. The main aim of the current study was to propose a definition of true global success following tympanoplasty by combining the patient’s and the surgeon’s reported satisfaction rate based on the indication and the goals for the operation. RESULTS : A total of 128 procedures were performed on128 ears in 125 patients, of which 52% (n = 57) were done on the right and 48% (n = 61) on the left side. There was no significant difference between the two groups (p = 0.07). There was a female preponderance, with 62% females and 44% males (p = 0.105). The majority of patients, 63% (n = 68), were between the age of 26 and 45 years, while 19% (n = 20) fell into the 46- to 60-year age range, with no significant difference between the groups (p = 0.21). There was complete graft take in 77% (107/128) of the ears in whereas 23% (21/128) of the ears the graft had not taken at the 6-month follow-up period. The true global success satisfaction rate was 92% (chi-square test = 119; p = 0.001) compared to the 77% surgical success. CONCLUSION : In assessing success in tympanoplasty, the patient- and surgeon-reported outcomes, when considered against agreed goals and indications, correlate well statistically. In this cohort, the true global success satisfaction rate was 92% (chi-square test = 119; p = 0.001 < 0.05) compared to 77% surgical success, based on graft take only. The combination of patient- and surgeon-reported outcomes would be beneficial in reporting true global success in tympanoplasty.
Migraine induced recurrent bloody otorrhea : a spontaneous extra-cranial hemorrhagic phenomena: case series
(Elsevier, 2022-01) Tshifularo, Mashudu; mashudu.tshifularo@up.ac.za
No abstract available.
Spectrum of MYO7A mutations in an indigenous South African population further elucidates the nonsyndromic autosomal recessive phenotype of DFNB2 to include both homozygous and compound heterozygous mutations
(MDPI, 2021-02-15) Kabahuma, Rosemary Ida; Schubert, Wolf-Dieter; Labuschagne, Christiaan; Yan, Denise; Blanton, Susan Halloran; Pepper, Michael Sean; Liu, Xue Zhong
MYO7A gene encodes unconventional myosin VIIA, which, when mutated, causes a phenotypic spectrum ranging from recessive hearing loss DFNB2 to deaf-blindness, Usher Type 1B (USH1B). MYO7A mutations are reported in nine DFNB2 families to date, none from sub-Saharan Africa. In DNA, from a cohort of 94 individuals representing 92 families from the Limpopo province of South Africa, eight MYO7A variations were detected among 10 individuals. Family studies identified homozygous and compound heterozygous mutations in 17 individuals out of 32 available family members. Four mutations were novel, p.Gly329Asp, p.Arg373His, p.Tyr1780Ser, and p.Pro2126Leufs*5. Two variations, p.Ser617Pro and p.Thr381Met, previously listed as of uncertain significance (ClinVar), were confirmed to be pathogenic. The identified mutations are predicted to interfere with the conformational properties of myosin VIIA through interruption or abrogation of multiple interactions between the mutant and neighbouring residues. Specifically, p.Pro2126Leufs*5, is predicted to abolish the critical site for the interactions between the tail and the motor domain essential for the autoregulation, leaving a non-functional, unregulated protein that causes hearing loss. We have identified MYO7A as a possible key deafness gene among indigenous sub-Saharan Africans. The spectrum of MYO7A mutations in this South African population points to DFNB2 as a specific entity that may occur in a homozygous or in a compound heterozygous state.
Chronic rhinitis in South Africa – more than just allergy!
(Health and Medical Publishing Group, 2020-07) Green, Robin J.; Hockman, M.; Friedman, R.; Van Niekerk, Andre; Feldman, Charles; Vardas, E.; Quitter, R.; Els, Carla; Van Bruwaene, L.; Nanan, A.; Peter, J.; Seedat, R.Y.; Levin, M.; Bateman, C.; Davis, G.; Davis, M.; Gill, M.; Gray, C.; Karabus, S.; Lewis, H.; Lodder, C.; Maharaj, S.; McDonald, M.; Moodley, T.; Mosito, K.; Motakef, S.; Parris, Denise; Pio, P.; Ramjettan, S.; robin.green@up.ac.za
Chronic rhinitis is a troublesome condition for sufferers. It is tempting to label all patients with chronic nasal symptoms as having allergic rhinitis (AR), but many such patients have other causes of chronic rhinitis that need a specific diagnosis and management strategy. Even when the patient fully fits the definition of AR, their condition will be best served by combining medication with ongoing patient education.
Grommets and swimmers ear
(Medpharm Publications, NISC (Pty) Ltd and Cogent, Taylor and Francis Group, 2018-09) Tshifularo, Mashudu
Acute otitis media (AOM) is one of the most common childhood illnesses. While many children experience sporadic AOM episode, an important group suffer from recurrent AOM (rAOM), defined as three or more episodes in six months or four or more in one year. In this subset of children AOM poses a true burden through frequent episodes of ear pain, irritation, restlessness, pyrexia, general illness, sleepless nights and time lost from nursery or school. This group of children will suffer from poor language and school progress and will require temporary transient relief with ventilation tubes (grommets) or tympanotomy tubes can be offered for rAOM. Myringotomy with tympanostomy tubes is the most common otological surgery.
The genetic basis of deafness in populations of African descent
(Elsevier, 2017-06) Rudman, Jason R.; Kabahuma, Rosemary Ida; Bressler, Sara E.; Feng, Yong; Blanton, Susan H.; Yan, Denise; Liu, Xue-Zhong
Hearing loss is the most common sensorineural disorder worldwide and is associated with more than 1000 mutations in more than 90 genes. While mutations in genes such as GJB2 (gap-junction protein β 2) and GJB6 (gap-junction protein β 6) are highly prevalent in Caucasian, Asian, and Middle Eastern populations, they are rare in both native African populations and those of African descent. The objective of this paper is to review the current knowledge regarding the epidemiology and genetics of hearing loss in African populations with a focus on native sub-Saharan African populations. Environmental etiologies related to poor access to healthcare and perinatal care account for the majority of cases. Syndromic etiologies including Waardenburg, Pendred and Usher syndromes are uncommon causes of hearing loss in these populations. Of the non-syndromic causes, common mutations in GJB2 and GJB6 are rarely implicated in populations of African descent. Recent use of next-generation sequencing (NGS) has identified several candidate deafness genes in African populations from Nigeria and South Africa that are unique when compared to common causative mutations worldwide. Researchers also recently described a dominant mutation in MYO3a in an African American family with non-syndromic hearing loss. The use of NGS and specialized panels will aid in identifying rare and novel mutations in a more cost- and time-effective manner. The identification of common hearing loss mutations in indigenous African populations will pave the way for translation into genetic deafness research in populations of African descent worldwide.
Transoral robotic surgery (TORS) in South Africa
(Health and Medical Publishing Group, 2017-01) Fagan, J.J.; Wetter, Julie; Joseph, Christopher A.; Donde, Bernard
A series of two-page advertisements have appeared in the September and November 2016 issues of the SAMJ, entitled ‘da Vinci Transoral Robotic Surgery (TORS) is a minimally invasive alternative to open surgery and full-dose chemoradiation therapy for diseases of the head and neck’. As these advertisements go beyond simply marketing surgical equipment, but seek to influence patients, referring doctors, oncologists and head and neck surgeons on how to treat cancers of the head and neck and sleep apnoea, we have taken the unusual step of writing to the editor of the SAMJ to correct some misconceptions in the advertisement.
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents
(Springer, 2016-08) Yan, Denise; Tekin, Demet; Bademci, Guney; Foster II, Joseph; Cengiz, F. Basak; Kannan‑Sundhari, Abhiraami; Guo, Shengru; Mittal, Rahul; Zou, Bing; Grati, Mhamed; Kabahuma, Rosemary Ida; Kameswaran, Mohan; Lasisi, Taye J.; Adedeji, Waheed A.; Lasisi, Akeem O.; Menendez, Ibis; Herrera, Marianna; Carranza, Claudia; Maroofian, Reza; Crosby, Andrew H.; Bensaid, Mariem; Masmoudi, Saber; Behnam, Mahdiyeh; Mojarrad, Majid; Feng, Yong; Duman, Duygu; Mawla, Alex M.; Nord, Alex S.; Blanton, Susan H.; Liu, Xue Z.; Tekin, Mustafa
Hearing loss is the most common sensory deficit in humans with causative variants in over 140 genes. With few exceptions, however, the population-specific distribution for many of the identified variants/genes is unclear. Until recently, the extensive genetic and clinical heterogeneity of deafness precluded comprehensive genetic analysis. Here, using a custom capture panel (MiamiOtoGenes), we undertook a targeted sequencing of 180 genes in a multi-ethnic cohort of 342 GJB2 mutation-negative deaf probands from South Africa, Nigeria, Tunisia, Turkey, Iran, India, Guatemala, and the United States (South Florida). We detected causative DNA variants in 25 % of multiplex and 7 % of simplex families. The detection rate varied between 0 and 57 % based on ethnicity, with Guatemala and Iran at the lower and higher end of the spectrum, respectively. We detected causative variants within 27 genes without predominant recurring pathogenic variants. The most commonly implicated genes include MYO15A, SLC26A4, USH2A, MYO7A, MYO6, and TRIOBP. Overall, our study highlights the importance of family history and generation of databases for multiple ethnically discrete populations to improve our ability to detect and accurately interpret genetic variants for pathogenicity.
Allergy and dizziness
(Media 24, 2015-06) Hofmeyr, Louis Murray
Although allergies and dizziness are very common, little is known of their co-existence and relationship to each other. Allergy associated dizziness (AAD) refers to vertigo and disequilibrium.
A bedside system for clinical grading of parotid gland enlargement
(Health and Medical Publishing Group, 2015-06) Tshifularo, Mashudu
There are limited data on grading of parotid gland mass, and currently no bedside clinical grading system is available. Parotid enlargement is common in patients with HIV/AIDS, and the size of the gland can change depending on the progression of disease, with or without treatment. This needs to be recorded accurately and communicated properly. A novel system for bedside clinical grading of parotid gland enlargement using a soft tape measure is proposed.
Blood otorrhea : blood stained sweaty ear discharges : Hematohidrosis; four case series (2001-2013)
(Elsevier, 2014-03) Tshifularo, Mashudu; mashudu.tshifularo@up.ac.za
Hematohidrosis/hematidrosis/hemidrosis is a rare clinical condition in which human being sweats blood under condition of extreme physical or emotional stress [1. Jerajai HR, Bhagyashri Jaju, Phiske MM, and Nitin Lade. Hematohidrosis-a rare clinical phenomenon. Indian J Dermatol. 2009 Jul-Sep; 54(3): 290-292; 2. Martinez NL, Mas IB, Paz AFM, Boronat JL. Recurrent bleeding in an 18-year old girl. Arch Dermatol.2012; 148(8):960-961.] The capillary blood vessels that feed the sweat glands rupture, causing them to exude blood as sweat, under stressful conditions, occurring in religious (Jesus Christ prayer experience in Gethsemane) and non-religious (soldier sweat blood before battle) [2. Martinez NL, Mas IB, Paz AFM, Boronat JL. Recurrent bleeding in an 18-year old girl. Arch Dermatol.2012; 148(8):960-961.]. It is a condition where there is a spontaneous painless bleeding through unbroken skin in any part of the body. It is self-limiting in nature with a good prognosis [3. Patel RM, Mahajan S. Hematohidrosis: A rare clinical entity. Indian Dermatol Online J.2010 Jul; 1(1):30-2.]. The diagnosis of hematohidrosis is made on the presence of bloody discharge without any obvious cause through intact skin, witnessed and confirmed by health professional/doctor/nurse and the presence of blood components on biochemistry studies of the discharge. Hematohidrosis is a well-recognised diagnosis according to International Classification of Diseases (ICD-9-CM: 705-89) (ICD9 Data.com; 2013). This study reports the clinical finding, radiology, audiology and histology of four cases of a rare isolated otological hematohidrosis. Our cases are of particular interest because to our knowledge these are the first documented cases of psychogenic hematohidrosis isolated otological (ear) presentation. A comprehensive literature review was performed on reports documenting hematohidrosis/hematidrosis cases. The clinical presentation, diagnosis, treatment, pathophysiology and epidemiology of hematohidrosis. The purpose is to report and raise awareness of hematohidrosis among ENT patients.
Otolaryngological and head and neck manifestations in HIV-infected patients seen at Steve Biko Academic Hospital in Pretoria, South Africa
(Health and Medical Publishing Group, 2013-07) Tshifularo, Mashudu; Govender, L.; Monama, G.; mashudu.tshifularo@up.ac.za
BACKGROUND. Sub-Saharan Africa has the highest incidence of HIV infection. According to recent census statistics, 5.6 million people in South Africa (SA) are HIV-positive, the highest number of infected individuals worldwide. Over 80% of HIV-infected individuals will present with ear, nose and throat (ENT) manifestations. Previous studies show that oral diseases seem to be the most common ENT-related manifestation, reported in about 40 - 50% of HIV-infected patients. In SA, there is lack of local information regarding the otolaryngological and head and neck manifestations in HIV-infected individuals. OBJECTIVE. To ascertain our local trends of ENT and head and neck manifestations in HIV-infected patients seen at our specialised ENT-HIV Clinic, Steve Biko Academic Hospital, Pretoria, Gauteng Province, SA. METHODS. A 1-year prospective study involving 153 HIV-infected patients was conducted in the clinic from January to December 2011. Patient history was taken and examinations were performed based on the World Health Organization (WHO) HIV/AIDS classification system. Data analysis was performed using Epi Info 7 software. RESULTS. The most common manifestations were adenoid hypertrophy/hyperplasia followed by cervical lymphadenopathy, chronic suppurative otitis media, otitis media with effusion and sensory-neural hearing loss. CONCLUSION. Patients typically presented with early manifestations during symptomatic WHO stages I and II in contrast to results reported in similar developing world studies from Iran, Nigeria and India. A possible explanation may lie in the SA government HIV Counselling and Testing campaign and the antiretroviral rollout programme, the effectiveness of which is becoming evident.
Otosclerosis and TGF-β1 gene in black South Africans
(Health and Medical Publishing Group, 2008-09) Tshifularo, Mashudu; Joseph, Christopher A.
Limited literature is available on the epidemiology and genetics of otosclerosis in South African blacks, among whom it is extremely rare. We undertook this study because we had documented and surgically confirmed cases of clinical oval window otosclerosis in this population.

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