Bridging the gap between omics research and dental practice.

AIM: The burgeoning field of omics research has witnessed exponential growth in both medicine and dentistry. However, despite more than a decade of advancements, clinical dentistry, particularly in Low- and Middle-Income Countries (LMICs), has seen limited progress in integrating omics-based approaches into routine practice. This review aims to provide a comprehensive overview of the integration of omics approaches in dentistry, focusing on the challenges and opportunities for translating research findings into clinical practice. METHODS: we conducted a literature review using key databases to provide a brief overview of the history of genomics in dentistry. Additionally, we summarised recent breakthroughs in omics relevant to oral health practitioners, emphasising the inadequate translation of omics research into clinical practice. RESULTS: Despite significant growth in omics research in both medicine and dentistry, its translation into routine clinical practice in dentistry remains limited. We summarise recent breakthroughs in omics and highlight the gap between research advancements and clinical implementation. DISCUSSION AND CONCLUSION: The integration of omics approaches holds promise for enhancing diagnostics, personalised treatment strategies, and preventive measures in dental practice, ushering in a new era of precision oral healthcare. However, several challenges, including infrastructure limitations, cost-effectiveness, and education gaps, hinder the widespread adoption of omics-based approaches in clinical dentistry. A strong commitment to transforming dentistry is required to embrace this transition. This shift has the potential to revolutionise oral healthcare by advancing precision diagnostics and treatment strategies tailored to individual patient needs.

The association between cytology and histopathology in thyroid nodules over a 6-year period in an urban hospital in South Africa.

BACKGROUND: Thyroid cancer is prevalent both internationally and locally, and is the most common cause of endocrine malignancies in Africa. The prognosis of thyroid cancer in general is quite good, but to achieve good outcomes, appropriate methods for diagnosis are important. A cytology result obtained from a fine needle aspiration and biopsy (FNAB) is one such method, and is less invasive and has less risk compared with obtaining a histological result via open surgery. However, there are accuracy differences that have been reported in different literature findings. OBJECTIVES: To determine the diagnostic accuracy rate of thyroid FNAB compared with histopathological samples at an urban hospital in South Africa (SA), and compare this with international standards. METHODS: A retrospective observational study was conducted of patients who had undergone both FNAB and thyroidectomies at Helen Joseph Hospital, Gauteng Province, SA, a public tertiary hospital, between 1  January 2016 and 31  December 2021. Various analytical methods were used, including Poisson generalised linear model, binomial generalised linear model, a two-proportion z-test, McNemar's test and the F1 score. RESULTS: There were 164 participants in this study who were between the ages of 21 and 82 years old. Thirty-six records were excluded for use as a comparison between cytology and histology, as they were in Bethesda categories 1, 3 and 4. Out of the 128 records that were compared, there was statistically significant agreement v. non-agreement between cytology and histology findings for thyroid nodules (109  v. 19, p<0.001, respectively). A comparison between our sample population and internationally published standards in terms of rate of malignancy noted that our rate of malignancy was slightly higher in Bethesda 2 patients (5.88%) v. internationally published standards (0 - 3%), and slightly lower in Bethesda 4 (23.52%) and 6 (77.77%) v. internationally published standards (25 - 40% and 97 - 99%, respectively. CONCLUSION: There was good correlation between cytology and histology for thyroid nodules. Differences were noted between the percentage of malignant cases in the different Bethesda categories compared with international standards as noted above. We recommend that further studies are conducted locally to improve knowledge on this topic.

Case report: Enamel renal syndrome: a case series from sub-Saharan Africa.

Enamel Renal Syndrome (ERS) (OMIM # 204690) is a rare genetic condition characterised by hypoplastic amelogenesis imperfecta, failed tooth eruption, intra-pulpal calcifications, gingival enlargement and occasionally nephrocalcinosis. In this case series, we report on four unrelated patients with a confirmed molecular diagnosis of ERS (FAM20A pathogenic variants) from Sub-Saharan Africa. The pathognomonic oral profile of ERS was mostly fulfilled in these patients, with the notable addition of an odontoma in one patient. The cases presented a spectrum of phenotypic severity both dentally and systemically. One patient presented with nephrocalcinosis and abnormal kidney function, one had reduced kidney size with normal kidney function, and two had no renal abnormalities. Patients presenting with the oral profile of ERS should receive a prompt referral to a nephrologist and a geneticist. They should receive long-term management from a multidisciplinary medical and dental team.

Indwelling pleural catheters: an overview and real-life experience.

BACKGROUND: Indwelling pleural catheters (IPCs) are most frequently used in those with malignant pleural effusions, although their use is expanding to patients with non-malignant diseases. AIM: To provide an overview of IPCs and highlight how, when and why they can be used including our own real-life experience. DESIGN: Data were collected retrospectively from a large tertiary centre for all individuals who received an IPC between June 2010 and February 2018 inclusive. The data collected included gender, age, origin of malignancy, number of drains prior to IPC, whether they had received pleurodesis prior to IPC, presence of a trapped lung, date of insertion, documented complications, overall outcome and date of death. RESULTS: A total of 68 patients received an IPC, the majority were female (n = 38, 57%) with an overall median age of 68 years (range 40-90 years). The most common site of cancer origin was lung (n = 33, 49%) followed by pleura (n = 10, 15%) and breast (n = 9, 13%). The median survival of all patients was 141 days (IQR 26-181). Sixteen percent (n = 11) of patients underwent a spontaneous pleurodesis resulting in their IPC being removed. Only three individuals had a complication (4.4%). CONCLUSIONS: IPC insertion is a safe procedure and represents an exciting and expanding field in the management of pleural disease. Further longitudinal studies are required to fully delineate their place in the management of both malignant and benign effusions.

Dentinogenesis imperfecta in Osteogenesis imperfecta type XI in South Africa: a genotype-phenotype correlation.

BACKGROUND: The maxillofacial and dental manifestations of Osteogenesis imperfecta (OI) have significant implications in terms of management. Although the occurrence of abnormal dentine in some forms of OI is well documented, there is scant information on the association of abnormal dentine in the Black African persons with phenotypic OI III and genotypic OI XI in South Africa. METHODS: This was a cross-sectional analytic study. A series of 64 Black South African individuals with a confirmed phenotypic diagnosis of OI III, ages ranging from 3 months to 29 years, were assessed clinically, radiographically, and at a molecular level. RESULTS: A total number of 64 saliva samples were analyzed and 3 DNA variations were identified in exon 5 of the FKBP10 gene. The homozygous mutation, c.[831dupC]; [831dupC], was identified in 23 affected persons who had no clinically obvious features of DI in their primary and secondary teeth. Radiologically, mild features of DI were evident in 10 persons in whom radiographic images were obtained and were given a Clinical-radiological score of 2. A compound heterozygous mutation, c. [831delC]; [831dupC], was identified in three siblings. An intraoral examination of these affected persons revealed no clinically apparent features of DI in their primary and secondary teeth. Due to the lack of radiological facilities, the presence or absence of DI could not be confirmed or negated. A second compound heterozygous mutation, c.[831dupC]; [1400-4C>G], was identified in a female of 29 years belonging to the Xhosa linguistic group. Her teeth appeared clinically normal but it was not possible to obtain radiographs. In 37 affected individuals, no disease-causing mutations were identified. CONCLUSION: Black African individuals in SA with the homozygous mutation in the FKBP10 gene have clinically unaffected teeth yet exhibited radiographic features of DI to varying degrees. This characterization is suggestive of a relationship between the genetic abnormality and the clinical manifestations of DI. The authors suggest that this diagnosis must include teeth that are clinically and/or radiologically aberrant, and should not exclude the presence of other, milder, dentinal aberrations associated with OI. There was no correlation between severity of OI and DI in this cohort of individuals.

Hereditary dentine dysplasias: terminology in the context of osteogenesis imperfecta.

Hereditary dentine dysplasias (HDD) such as dentinogenesis imperfecta (DI) and dentine dysplasia (DD) are a group of genetic conditions characterised by an abnormal dentine structure due to disturbances in the formation, composition, or organisation of the dentine matrix. Either the primary or both primary and secondary dentition are affected to varying degrees. These disorders result from mutations in the genes encoding the major protein constituents of dentine, notably collagens and phosphoproteins. The clinical and radiological features of the hereditary dentine dysplasias (HDD) are relevant to clinical dentistry, in particular osteogenesis imperfecta (OI) which is a well-known heterogeneous genetic disorder. OI is currently the focus of considerable academic attention and involvement of the teeth is a frequent and variable manifestation. In this analysis, the literature related to the classification, clinical features, and molecular pathogenesis of heritable structural tooth diseases affecting dentine formation is reviewed. The definition, history of the terminology and the development of the current classification is outlined and discussed in detail with the aim to address semantic confusion that has arisen in the literature on HDD and to provide clarity on the use of appropriate terminology in the context of OI.

Osteogenesis imperfecta type III in South Africa: Psychosocial challenges.

Individuals with osteogenesis imperfecta type III (OI III) are severely physically disabled due to frequent fracturing. Their disability poses numerous barriers that challenge their social development. Despite these limitations, several affected persons are able to rise above these problems and achieve success in their personal and professional life. This outcome is directly relevant to their psychosocial development.The achievements of five individuals with OI III living in Cape Town are highlighted in this article, as well as the challenges that they have experienced and continue to experience in their daily lives. The authors intend to promulgate understanding of the psychosocial circumstances of affected persons, thereby facilitating the deployment of appropriate efforts and resources to address these challenges.

Dental needs of intellectualy disabled children attending six special educational facilities in Cape Town.

OBJECTIVE: To assess the dental needs of a group of children with intellectual disability (ID) attending six special educational facilities in Cape Town, South Africa. Methods. This was a cross-sectional study based on a convenience sampling method. One hundred and fifty-seven children with ID attending six special educational facilities in Cape Town were included in the survey. Five schools were exclusively funded by the State and one school received additional private financial support. The oral examinations complied with guidelines drafted by Special Olympics Special Smiles programme and the Centers for Disease Control, USA. RESULTS: The most common dental disorders requiring management were gingival disease (69%) and untreated dental caries (68%). Almost 50% of the children had missing teeth. Twenty-nine percent needed orthodontic correction of malocclusion and 7% had structural abnormalities of their teeth that required either aesthetic or functional intervention. Fillings were evident in only 8% of the children. Females required more dental treatment than males. The dental needs of children with ID increased with age. There were no significant differences in the dental needs of children attending State-funded schools and those attending the single school that received additional financial assistance. CONCLUSION: The frequency of unmet dental needs of children with ID attending special educational facilities in Cape Town was high and the dental care available to them was minimal. The study highlights the need for improved dental services to ensure that optimal oral health is accessible to children with ID attending special educational facilities in Cape Town.

Osteoporosis-pseudoglioma syndrome in South Africa.

The osteoporosis-pseudoglioma syndrome (MIM 259770) is a rare autosomal recessive disorder in which bone fragility and frequent fractures are associated with serious ocular changes. The skeletal manifestations resemble those of osteogenesis imperfecta while hyperplasia of the vitreous, eye and corneal opacities often mimics the appearance of intraocular glioma. This disorder was previously reported in a South African family of Indian stock as 'the ocular form of osteogenesis imperfecta'. Terminological discussion followed and it was suggested that these individuals had osteoporosis-pseudoglioma syndrome. This article describes and depicts the manifestations of the disorder and discusses the nosology.

Pyle metaphyseal dysplasia in an African child: Case report and review of the literature.

Pyle disease (OMIM 265900), also known as metaphyseal dysplasia, is a rare autosomal recessive disorder with no known gene mutation. We report a case of Pyle disease in a 7-year-old African boy of mixed ancestry who presented with finger and wrist fractures following minor trauma. The radiological findings revealed abnormally broad metaphyses of the tubular bones, known as Erlenmeyer-flask bone deformity, and mild cranial sclerosis, both hallmarks of the condition. We report the first case in a patient with African ancestry, which could help in the gene discovery of this rare autosomal recessive skeletal dysplasia with unknown mutations.

CANDLE Syndrome: orodfacial manifestations and dental implications.

A South African girl with CANDLE Syndrome is reported with emphasis on the orodental features and dental management. Clinical manifestations included short stature, wasting of the soft tissue of the arms and legs, erythematous skin eruptions and a prominent abdomen due to hepatosplenomegaly. Generalized microdontia, confirmed by tooth measurement and osteopenia of her jaws, confirmed by digitalized radiography, were previously undescribed syndromic components. Intellectual impairment posed problems during dental intervention. The carious dental lesions and poor oral hygiene were treated conservatively under local anaesthetic. Prophylactic antibiotics were administered an hour before all procedures.Due to the nature of her general condition, invasive dental procedures were minimal. Regular follow-ups were scheduled at six monthly intervals. During this period, her overall oral health status had improved markedly.The CANDLE syndrome is a rare condition with grave complications including immunosuppression and diabetes mellitus. As with many genetic disorders, the dental manifestations are often overshadowed by other more conspicuous and complex syndromic features. Recognition of both the clinical and oral changes that occur in the CANDLE syndrome facilitates accurate diagnosis and appropriate dental management of this potentially lethal condition.

The tricho-rhino-phalangeal syndrome: oral manifestations and management.

Tricho-rhino-phalangeal Syndrome (TRPS) is a rare inherited dysplasia affecting hair, nasal structure and fingers. A literature review indicated that since first described, three types of manifestations have been identified. A Table summarising the oral manifestations demonstrates the variety of presentations. A South African male child presented with the syndrome and was found to show premature eruption of permanent teeth, a finding that has not been previously reported. His oro-facial manifestations also included malaligned and unerupted crowded teeth, bulbosity of the nasal tip and an elongated philtrum and evidence of mild intellectual impairment. A protocol has been developed to guide the future management of these cases.

Application of a Physiologically Based Pharmacokinetic Model to Predict OATP1B1-Related Variability in Pharmacodynamics of Rosuvastatin.

Typically, pharmacokinetic-pharmacodynamic (PK/PD) models use plasma concentration as the input that drives the PD model. However, interindividual variability in uptake transporter activity can lead to variable drug concentrations in plasma without discernible impact on the effect site organ concentration. A physiologically based PK/PD model for rosuvastatin was developed that linked the predicted liver concentration to the PD response model. The model was then applied to predict the effect of genotype-dependent uptake by the organic anion-transporting polypeptide 1B1 (OATP1B1) transporter on the pharmacological response. The area under the plasma concentration-time curve (AUC0-∞) was increased by 63 and 111% for the c.521TC and c.521CC genotypes vs. the c.521TT genotype, while the PD response remained relatively unchanged (3.1 and 5.8% reduction). Using local concentration at the effect site to drive the PD response enabled us to explain the observed disconnect between the effect of the OATP1B1 c521T>C polymorphism on rosuvastatin plasma concentration and the cholesterol synthesis response.

Prevalence and spectrum of head and neck lymphomas at Tygerberg Hospital, South Africa, 2003 to 2007.

AIM: The aim of the study was to investigate trends of prevalence and the pathological spectrum of head and neck lymphomas (HNL) at Tygerberg Referral Hospital over five years from 2003 to 2007, and to ascertain a possible relationship with HIV infection. This study will also provide a source of baseline data for a further project that will include the last ten years at Tygerberg Hospita i.e. 2003 to 2012. OBJECTIVES: To establish the incidence and trends of prevalence of HNL; to describe the pathological spectrum of all HNICs diagnosed from 2003 to 2007. METHOD: A retrospective study was conducted using the case records of all newly diagnosed HNL specimens from 2003 to 2007. RESULTS: A statistically significant increase was noted in the number of patients presenting with HNL. An increase from 17% to 33% was also noted in the number of HIV-positive HNL patients during the same period. The average age of disease presentation in the HIV-positive group of patients was significantly lower Diffuse large cell lymphoma (DLBCL) was the largest category of HNL (32%), followed by Hodgkin lymphomas (HL) 27%, Folicular lymphoma (FL) 10% and Plasmablastic lymphoma (PBL) at 8%. PBL and Burkitt's lymphoma (BL) were seen only in HIV-positive patients. CONCLUSION: There was an increase in the number of HNLs diagnosed each year.