Clinical and cardiovascular magnetic resonance profile of cardiomyopathy patients from South Africa: Pilot of the IMHOTEP study.

BACKGROUND: Cardiomyopathy is an important cause of heart failure, however, there is notable lack of data on causes and manifestations of cardiomyopathy in Africa. AIMS: The African Cardiomyopathy and Myocarditis Registry Program (IMHOTEP) aims to address the knowledge gap on etiology, treatment, and outcomes of cardiomyopathy in sub-Saharan Africa. METHODS AND RESULTS: We conducted a single-center pilot study to delineate the clinical and cardiovascular magnetic resonance (CMR) phenotypes of cardiomyopathy in South African patients. Assessment of the first 99 adult incident cases [mean age 36.8 ± 12.5 years; females 53.5%] enrolled in IMHOTEP showed that dilated cardiomyopathy (n = 77) was commonest, followed by hypertrophic (n = 13), restrictive (n = 5) and arrhythmogenic (n = 4) cardiomyopathies. A broad range of etiologies were encountered with secondary causes identified in 42% of patients. Onset of symptoms in the peripartum period was observed in 47% of women, and peripartum cardiomyopathy was diagnosed in 32.1% of women recruited. In addition to electrocardiography and echocardiography, CMR was performed in 67 cases and contributed diagnostically in a third of cases. Acute inflammation was rarely observed [2%] on CMR, however, late gadolinium enhancement (LGE) was noted in 92% of cases. CONCLUSION: We report a diverse spectrum of causes of cardiomyopathy in the South African population, with secondary, potentially treatable, etiologies in a significant proportion of cases. CMR was useful in delineating specific phenotypes and etiologies, influencing clinical care. A higher-than-expected burden of LGE was observed in this young patient cohort - the implications of which are yet to be determined.

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.

Self-reported beta-lactam allergy in government and private hospitals in Cape Town, South Africa.

BACKGROUND: Up to a quarter of inpatients in high-income countries (HICs) self-report beta-lactam allergy (BLA), which if incorrect,increases the use of alternative antibiotics, worsening individual health outcomes and driving bacterial resistance. In HICs, up to 95% ofself-reported BLAs are incorrect. The epidemiology of BLA in low- and middle-income African countries is unknown. OBJECTIVES: To describe the epidemiology and de-labelling outcomes of self-reported BLA in hospitalised South African (SA) patients. METHODS: Point-prevalence surveys were conducted at seven hospitals (adult, paediatric, government and privately funded, district andtertiary level) in Cape Town, SA, between April 2019 and June 2021. Ward prescription records and in-person interviews were conductedto identify and risk-stratify BLA patients using the validated PEN-FAST tool. De-labelling was attempted at the tertiary allergy clinic atGroote Schuur Hospital. RESULTS: A total of 1 486 hospital inpatients were surveyed (1 166 adults and 320 children). Only 48 patients (3.2%) self-reported a BLA,with a higher rate in private than in government-funded hospitals (6.3% v. 2.8%; p=0.014). Using the PEN-FAST tool, only 10.4% (n=5/48)of self-reported BLA patients were classified as high risk for true penicillin hypersensitivity. Antibiotics were prescribed to 70.8% (n=34/48)of self-reported BLA patients, with 64.7% (n=22/34) receiving a beta-lactam. Despite three attempts to contact patients for de-labelling atthe allergy clinic, only 3/36 underwent in vivo testing, with no positive results, and 1 patient proceeded to a negative oral challenge. CONCLUSION: Unlike HICs, self-reported BLA is low among inpatients in SA. The majority of those who self-reported BLA were low risk fortype 1 hypersensitivity, but outpatient de-labelling efforts were largely unsuccessful.

Prediction of the Ultimate Strength of Notched and Unnotched IM7/977-3 Laminated Composites Using a Micromechanics Approach.

This paper proposes a multi-scale analysis technique based on the micromechanics of failure (MMF) to predict and investigate the damage progression and ultimate strength at failure of laminated composites. A lamina's representative volume element (RVE) is developed to predict and calculate constituent stresses. Damages that occurred in the constituents are calculated using separate failure criteria for both fiber and matrix. Subsequently, the volume-based damage homogenization technique is utilized to prevent the localization of damage throughout the total matrix zone. The proposed multiscale analysis procedure is then used to investigate the notched and unnotched behavior of three multi-directional composite layups, [30, 60, 90, -60, 30]2S, [0, 45, 90, -45]2S, and [60, 0, -60]3S, subjected to static tension and compression loading. The specimen is fabricated from unidirectionally reinforced composite (IM7/977-3). The prediction of ultimate strength at failure and equivalent stiffness are then benchmarked against the experimental test data. The comparative analysis with various failure models is also carried out to validate the proposed model. MMF demonstrated the capability to correctly predict the ultimate strength at failure for a range of multidirectional composites laminates under tensile and compressive load. The numerically predicted findings revealed a good agreement with the experimental test data. Out of the three investigated composite layups, the simulated results for the quasi-isotropic [0, 45, 90, -45]2S layup agreed extremely well with the experimental results with all the percentage errors within 10% of the measured failure loads.

The views of public service managers on the implementation of National Health Insurance in primary care: a case of Johannesburg Health District, Gauteng Province, Republic of South Africa.

BACKGROUND: The South African government is implementing National Health Insurance (NHI) as a monopsony health care financing mechanism to drive the country towards Universal Health Coverage (UHC). Strategic purchasing, with separation of funder, purchaser and provider, underpins this initiative. The NHI plans Contracting Units for Primary healthcare (PHC) Services (CUPS) to function as either independent sub-district purchasers or public providers and District Health Management Offices (DHMOs) to support and monitor these CUPS. This decentralised operational unit of PHC, the heartbeat of NHI, is critical to the success of NHI. The views of district-level managers, who are responsible for these units, are fundamental to this NHI implementation. This qualitative study aimed to explore district and sub-district managerial views on NHI and their role in its implementation. METHODS: Purposive sampling was used to identify key respondents from a major urban district in Gauteng, South Africa, for participation in in-depth interviews. This study used framework analysis methodology within MaxQDA software. RESULTS: Three main themes were identified: managerial engagement in NHI policy development (with two sub-themes), managerial views on NHI (with three sub-themes) and perceptions of current NHI implementation (with six sub-themes). The managers viewed NHI as a social and moral imperative but lacked clarity and insight into the NHI Bill as well as the associated implementation strategies. The majority of respondents had not had the opportunity to engage in NHI policy formulation. Managers cited several pitfalls in current organisational operations. The respondents felt that national and provincial governments continue to function in a detached and rigid top-down hierarchy. Managers highlighted the need for their inclusion in NHI policy formulation and training and development for them to oversee the implementation strategies. CONCLUSIONS: It appears that strategic purchasing is not being operationalised in PHC. NHI policy implementation appears to function in a rigid top-down hierarchy that excludes key stakeholders in the NHI implementation strategy. The findings of this study suggest an inadequate decentralisation of healthcare governance within the public sector necessary to attain UHC. District managers need to be engaged and capacitated to operationalise the planned decentralised purchasing-provision function of the DHS within the NHI Bill.

Preparing healthcare facilities to operate safely and effectively during the COVID-19 pandemic: The missing piece in the puzzle.

The stated objective of the COVID-19 lockdown was to allow time to prepare healthcare facilities. Preparation must include administrative and environmental measures, which when combined with personal protective equipment, minimise the risk of the spread of infection to patients and healthcare workers (HCWs) in facilities, allowing HCWs to safely provide essential services during the pandemic and limit the indirect effects of COVID-19 caused by healthcare disruption. We present our model for facility preparation based on colour-coded zones, social distancing, hand hygiene, rapid triage and separate management of symptomatic patients, and attention to infection transmission prevention between HCWs in communal staff areas. This model specifically addresses the challenges in preparing a facility for COVID-19 in a low-resource setting and in rural areas. In addition, we include links to resources to allow workers in low-resource settings to prepare their facilities adequately.

The prevalence of burnout among registrars in the School of Clinical Medicine at the University of the Witwatersrand, Johannesburg, South Africa.

BACKGROUND: Burnout is a response to prolonged stress and consists of three elements: emotional exhaustion (EE), depersonalisation (DP), and feelings of personal accomplishment (PA). The existence of burnout in doctors is often not acknowledged but has major consequences for personal and professional life. Only limited research has been done on the prevalence of burnout among registrars in South Africa (SA). OBJECTIVES: To describe the prevalence of burnout in a cohort of SA registrars, and assess relationships between burnout and sociodemographic factors. METHODS: A cross-sectional descriptive internet survey was conducted. Respondents were registrars in departments of the School of Clinical Medicine at the University of the Witwatersrand, Johannesburg, SA. The Maslach Burnout Inventory (MBI) was used to measure burnout. Relationships were assessed by the independent-samples t-test and analysis of variance. RESULTS: A total of 585 emails were delivered to registrars, of whom 201 started the survey (response rate 34%); 170 questionnaires were analysed. The mean age of the respondents was 33 years, and the male/female ratio was 1:1.8. The mean (standard deviation) score for EE was 3.5 (1.2), for DP 2.7 (1.1) and for PA 4.1 (1.1). The overall level of burnout was 84%. None of the respondents scored low over all categories. No significant association between sociodemographics (age, sex, discipline, year in the programme and experience) and MBI dimensions was found. CONCLUSIONS: The prevalence of burnout in this study was higher than that reported in the national and international literature. Levels of DP were extremely high and are worrying, as DP affects professionalism and engagement of doctors. In keeping with the literature, no associations were found between sociodemographic factors and burnout, suggesting that the cause of burnout should be sought in the work environment. Efforts to improve autonomy in the workplace, development opportunities and promoting peer collaboration are needed to prevent burnout.

Exploring the sorting of patients in community health centres across Gauteng Province, South Africa.

BACKGROUND: Primary health care worldwide faces large numbers of patients daily. Poor waiting times, low patient satisfaction and staff burnout are some problems facing such facilities. Limited research has been done on sorting patients in non-emergency settings in Africa. This research looked at community health centres (CHCs) in Gauteng Province, South Africa where queues appear to be poorly managed and patients waiting for hours. This study explores the views of clinicians in CHCs across Gauteng on sorting systems in the non-emergency ambulatory setting. METHODS: The qualitative study design used one-to-one, in-depth interviews of purposively selected doctors. Interviews were conducted in English, with open-ended exploratory questions. Interviews were recorded, transcribed, anonymised and checked by interviewees later. Data collection and analysis stopped with information saturation. The co-author supervised and cross-checked the process. A thematic framework was developed by both authors, before final thematic coding of all transcripts was undertaken by the principal author. This analysis was based on the thematic framework approach. RESULTS: Twelve primary health care (PHC) doctors with experience in patient sorting, from health districts across Gauteng, were interviewed. Two themes were identified, two major themes, namely Systems Implemented and Innovative Suggestions, and Factors Affecting Triage. Systems Implemented included those using vital signs, sorting by specialties, and using the Integrated Management of Childhood Illnesses approach. Systems Implemented also included doctor - nurse triage, first come first serve, eyeball triage and sorting based on main complaint. Innovative Suggestions, such as triage room treatment and investigations, telephone triage, longer clinic hours and a booking system emerged. There were three Factors Affecting Triage: Management Factor, including general management issues, equipment, documentation, infrastructure, protocol, and uniformity; and Staff Factor, including general staffing issues education and teamwork; and Patient Factor. CONCLUSION: Developing a functional triage protocol with innovative systems for Gauteng is important. Findings from this study can guide the development of a functional triage system in the primary health care non-emergency outpatient setting of Gauteng's CHCs. The Emergency Triage, Assessment and Treatment (ETAT) tool, modified for adult and non-clinician use, could help this. However, addressing management, staff and patient factors must be integral.

Floating-Harbor Syndrome: Presentation of the First Romanian Patient with a SRCAP Mutation and Review of the Literature.

Floating-Harbor syndrome (FHS) is a rare autosomal dominant syndrome characterized by short stature with delayed bone age, retarded speech development, intellectual disability and dysmorphic facial features. Recently, dominant mutations almost exclusively clustered in the final exon of the Snf2-related CREBBP activator protein (SRCAP) gene were identified to cause FHS. Here, we report a boy with short stature, speech delay, mild intellectual disability, dysmorphic features, and with genetically confirmed FHS. To the best of our knowledge, this is the first molecularly confirmed case with this syndrome reported in Romania. An intensive program of cognitive and speech stimulation, as well as yearly neurological, psychological, ophthalmological, otorhinolaryngological, pediatric and endocrinological monitoring for our patient were designed. We propose a checklist of clinical features suggestive of FHS, based on the main clinical features, in order to facilitate the diagnosis and clinical management of this rare condition.

A THANATOPHORIC DYSPLASIA TYPE I CASE WITH A FGFR3 P.R248C MUTATION AND SURVIVAL BEYOND THE NEONATAL PERIOD.

A Thanatophoric dysplasia, is a severe congenital anomaly which mostly causes stillbirth or death of the affected baby within hours due to respiratory insufficiency. The diagnosis of TD is typically suspected on ultrasound during the second trimester of pregnancy, when severe shortening of the long bones, frontal bossing, flattened vertebrae, and short ribs that result in a narrow thorax and bell-shaped abdomen, can be seen. Here, we present a case with prenatal ultrasonographic findings suggestive of TD, and highlight the patient's postnatal dysmorphic features and typical radiographic findings. The definitive diagnosis of TD type I (TDI) was made postnatally, when molecular genetic analysis revealed the previously described p.R248C mutation in FGFR3. This case is reported due to its relative long life span and the definitive molecular diagnosis that could be made during hospitalization.

Resolution of nodular myocardial tuberculosis demonstrated by contrast-enhanced magnetic resonance imaging.

In sub-Saharan Africa, pericardial tuberculosis is frequently diagnosed in HIV sero-positive patients. Myocardial involvement has only rarely been reported. We present an HIV sero-positive patient in whom both pericardial and myocardial tuberculosis were diagnosed, and highlight the value of cardiac magnetic resonance imaging in the diagnosis and management of this condition.

Tuberculous effusive-constrictive pericarditis.

Infection with Mycobacterium tuberculosis and the human immunodeficiency virus has reached epidemic proportions in South Africa. Cardiac involvement occurs in approximately one per cent of patients suffering from active tuberculosis. This concerns predominantly pericardial involvement, resulting in chronic pericardial effusions, cardiac tamponade and constrictive pericarditis. Effusive-constrictive pericarditis is a clinical haemodynamic syndrome in which constriction by the visceral pericardium occurs in the presence of a tense effusion in a free pericardial space. We present a patient who was diagnosed with this condition, and highlight the value of contrast-enhanced magnetic resonance imaging in demonstrating the underlying structural and functional abnormalities.

Abnormal diastolic and systolic septal motion following pericardiectomy demonstrated by ciné DENSE MRI.

Constrictive pericarditis can lead to paradoxical interventricular septal motion. Displacement encoding with stimulated echoes (DENSE) magnetic resonance imaging (MRI) provides a method for quantifying myocardial motion and strain. A case of constrictive pericarditis is presented and the diastolic 'septal bounce' is clearly evident in both anatomical and DENSE ciné MRI images. (See video link to full-text electronic article). The postoperative systolic septal wall-motion abnormality of cardiac surgery is portrayed with greater precision by DENSE than anatomical ciné MRI images.

A study of the relative dominance of selected anaerobic sulfate-reducing bacteria in a continuous bioreactor by fluorescence in situ hybridization.

The diversity and the community structure of sulfate-reducing bacteria (SRB) in an anaerobic continuous bioreactor used for treatment of a sulfate-containing wastewater were investigated by fluorescence in situ hybridization. Hybridization to the 16S rRNA probe EUB338 for the domain Bacteria was performed, followed by a nonsense probe NON338 as a control for nonspecific staining. Sulfate-reducing consortia were identified by using five nominally genus-specific probes (SRB129 for Desulfobacter, SRB221 for Desulfobacterium, SRB228 for Desulfotomaculum, SRB660 for Desulfobulbus, and SRB657 for Desulfonema) and four group-specific probes (SRB385 as a general SRB probe, SRB687 for Desulfovibrioaceae, SRB814 for Desulfococcus group, and SRB804 for Desulfobacteriaceae). The total prokaryotic population was determined by 4',6-diamidino-2-phenylindole staining. Hybridization analysis using these 16S rRNA-targeted oligonucleotide probes showed that, of those microbial groupings investigated, Desulfonema, Desulfobulbus, spp., and Desulfobacteriaceae group were the main sulfate-reducing bacteria in the bioreactor when operated at steady state at 35 degrees C, pH 7.8, and a 2.5-day residence time with feed stream containing 2.5 kg m-3 sulfate as terminal electron acceptor and 2.3 kg m-3 acetate as carbon source and electron donor.

A survey of anorexia nervosa using the Arabic version of the EAT-26 and "gold standard" interviews among Omani adolescents.

OBJECTIVE: The purpose of this study was to assess the validity of the Eating Attitude Test (EAT) in identifying the presence and severity of eating pathology in male and female Omani urban adolescents and to establish cut-off scores that matched those of anorexia identified by gold standard interviews without fear of fatness criteria. METHODS: Both females (n=126) and males (n=136) were screened using the Arabic version of the EAT-26 and interviewed using a semi-structured, Composite International Diagnostic Interview (CIDI) in order to investigate the relationship between false positives and false negatives at various EAT-26 cut-off points. A receiver operating characteristics (ROC) curve was calculated to discriminate the power of the EAT-26 for every possible threshold score. RESULTS: The EAT-26 identified 29% of the subjects as probable anorexic cases as against 9.5% identified during the structured interview based on the anorexia gold standard (32% males and 68% females). The sensitivity and specificity of the EAT-26 were respectively 24% and 69.6%. When using the ROC curve, a cut-off score of 10 gave the best compromise between sensitivity (64%) and specificity (38%). DISCUSSION: Although the EAT-26 is the most widely used screening instrument in cross-cultural studies, it does not appear to be reliable in identifying probable cases of anorexia among Omani adolescents. The use of a gold standard interview without fat phobia criteria indicated that the rate of anorexia nervosa may be more prevalent among males than previously estimated. This intriguingly high preponderance of males is discussed in terms of prevailing demographic trends in Oman.

An evaluation of parental knowledge of childhood asthma in a family practice setting.

STUDY OBJECTIVE: To measure and evaluate parental knowledge of and misconceptions with regard to childhood asthma and its treatment. DESIGN: A cross-sectional, descriptive survey. SETTING: A family practice in Mandalay, Mitchell's Plain, on the Cape Flats. PARTICIPANTS: The sample comprised all parents (N = 105) with an asthmatic child aged between 2 and 18 years attending the practice. The response rate was 95.2%. OUTCOME MEASURES: A semi-structured questionnaire which included a 55-item psychometrically validated asthma knowledge test. RESULTS: An average score of 72% was achieved. Parents were most knowledgeable about aetiology, symptomatology, pathophysiology, precipitants and environmental control. They were less informed about asthma therapy, asthma prognosis and general medical knowledge. In addition, numerous misconceptions were identified, which together with the knowledge deficiencies, could lead to inadvertent non-compliance. Parental concerns centred predominantly on their lack of confidence to manage acute asthma attacks, and fears about asthma prognosis. CONCLUSION: The study underscores the need for systematic asthma education, especially with regard to acute attack management and preventive medications. In addition, parents must acquire confidence and practical skills to cope with acute attacks.