Characteristics, clinical manifestations and management of leprosy in KwaZulu-Natal, South Africa: A 20-year retrospective study.

BACKGROUND: Although leprosy, a neglected tropical disease, has been eliminated (<1 case per 10 000 population) in South Africa (SA) since 1926, according to the World Health Organization, new cases continue to be reported. The management of leprosy poses several challenges, including patient adherence, education and insufficient training of healthcare practitioners. OBJECTIVES: To describe the biographical profile, clinical manifestations and treatment outcomes in patients with leprosy in KwaZulu-Natal Province. METHODS: This retrospective study aimed to analyse the clinical data of leprosy patients in SA from 2002 to 2022. Data collected included patient demographics, comorbidities, cutaneous and neurological manifestations of leprosy, complications, treatment and adverse reactions. Descriptive statistics were used to summarise the data. RESULTS: The study analysed the clinical data of 194 leprosy patients from 2002 to 2022. The majority of patients were male and middle aged, with a disproportionate representation of black South Africans. Regarding socioeconomic status, 80% were unemployed and 40% were social grant recipients. Most cases were clustered in urban centres and diagnosed at secondary care facilities, with 15% being HIV positive. The majority of patients (90%) were classified as having multibacillary leprosy. Common symptoms included upper respiratory tract involvement, hair loss and painful nerves, with the face and limbs being most frequently affected. Cutaneous morphology predominantly included plaques and hypopigmented patches, while neurological signs included ulnar nerve tenderness, muscle weakness and sensory deficits. Debilitating neurological complications were found in one-fifth of patients. Despite initiation of multidrug therapy in most patients, a significant proportion (27.3%) did not complete the full course of treatment, and treatment reactions were noted in 33.5% of patients. CONCLUSION: These findings emphasise the urgent need for enhanced patient and healthcare worker education, particularly in primary healthcare settings, to improve adherence to treatment, advocate for prophylactic measures and prevent new cases. Achieving leprosy-free status in SA requires the collaboration of many role-players to address these challenges and improve healthcare practices.

Genetic trends and common BRCA1/2 pathogenic sequence variants in black African and Indian breast cancer patients presenting at Inkosi Albert Luthuli Central Hospital, KwaZulu-Natal, South Africa.

BACKGROUND: Hereditary breast cancer is characterised by the presence of a pathogenic sequence variant passed from one generation to the next. These cancers are aggressive, develop early, and account for 5 - 10% of all breast cancer cases. In South Africa (SA), the common variants that predispose to hereditary breast cancer have been well documented among white patients and form part of screening panels during targeted testing. For non-white patients, common variants are not well understood, and as such, all populations are offered the same test optimised for white patients. This carries a risk of misdiagnosis, the consequences of which include recurrence and increased mortality. OBJECTIVES: To retrospectively describe genetic trends in the black African and Indian breast cancer patients from KwaZulu-Natal Province, SA. METHODS: We reviewed clinical and genetic data of breast cancer and high-risk patients who consulted at Inkosi Albert Luthuli Central Hospital between 2011 and 2021. Inclusion criteria were based on clinical and demographic characteristics as defined by SA clinical guidelines. RESULTS: Black African patients were young (mean 37.6 years, standard deviation 11.16) and had the majority of triple-negative tumours (37.5%). Indians represented 50% of bilateral breast cancers and of high-risk individuals. We identified 30 pathogenic BRCA1/2 sequence variants, four large genomic rearrangements and 13 variants of unknown significance. Twenty black patients carried 12, 13 white patients carried 4, 25 Indian patients carried 16, and 3 coloured patients carried 3 pathogenic sequence variants. The most frequent variants were BRCA2 c.5771_5774del, p.Ile1924fs among black patients, BRCA2 c.7934del, p.Arg2645fs among white patients, and BRCA2 c.8754+1G>A among Indian patients. None of the founder mutations common in white patients was reported in either black, Indian or coloured patients, which explains why black, Coloured and Indian SA patients consistently test negative during targeted screening. CONCLUSION: This study highlights unique genetic trends for SA populations and the need for more inclusive targeted tests that are optimal for these populations.

Association between chronic pancreatitis and pancreatic cancer at a central hospital in KwaZulu-Natal, South Africa.

BACKGROUND: The frequency of histological chronic pancreatitis (CP) evidence in the resident pancreas of resected periampullary cancers (PACs) has never been studied in Africa. This study aims to describe the spectrum of pathology and outcomes of pancreatic surgeries and address this deficit from a South African central hospital cohort. METHODS: A retrospective audit of patients undergoing pancreatic surgery at Inkosi Albert Luthuli Central Hospital (IALCH) between 2003 and 2023 was conducted. The patient demographics, human immunodeficiency virus (HIV) status, histological subtypes, type and extent of surgery, and 30-day and overall mortality were captured from medical records. The presence of CP in the resident pancreas of patients resected for pancreatic and PAC was obtained from the pathology reports. RESULTS: Of the cohort, 72% were Africans, presenting at an earlier average age than other races. Surgery was performed on 126 (107 for cancer, 19 for CP) patients. Of these, 77 were pancreaticoduodenectomy (PD), of which 34 were for pancreatic ductal adenocarcinoma (PDAC). The prevalence of CP in the resident pancreas was 29.9%, and 55.9% in PDAC. Age was the only factor significantly associated with 30-day mortality, as well as long-term survival amongst patients with pancreatic and PAC. The overall median survival for patients with PAC was seven months; 11 patients are alive. CONCLUSION: In a predominantly African cohort undergoing pancreatic surgery, PDAC presents at a younger age. The high perioperative mortality and low overall survival (OS) in the setting of high CP prevalence in the resident pancreas requires further investigation of its role in the aetiopathogenesis and prognosis in PDAC.

Development and internal validation of the survival time risk score in patients treated for oesophageal cancer with palliative intent in South Africa.

BACKGROUND: Most patients who present to South African state hospitals with advanced stage oesophageal squamous cell cancer (OSCC) disease receive palliative treatment. This study aimed to assess the factors that influence survival in patients with OSCC who received palliative management and to develop a prognostic score to aid clinicians in decisionmaking. METHODS: Analysis of a prospectively collected database assessed factors influencing survival of patients diagnosed with OSCC receiving palliative treatment. Factors assessed included patient demographics, clinical and laboratory data and tumour factors. A multivariable logistic regression model was used to assess for significant factors associated with survival time and a prognostic score was developed and internally validated based on these factors. RESULTS: There were 384 patients with a male-to-female ratio of 1.3:1. The median survival of the cohort was 3.7 months. Factors that influenced survival on multivariate analysis included area of residence (aOR 1.82, 95% CI 1.02-3.24), performance status (aOR 2.56, 95% CI 1.50-4.35), body mass index (aOR 1.87, 95% CI 1.14-3.06) and serum albumin (aOR 3.06, 95% CI 1.46-6.42). The final prognostic score contained three of the four independent variables based on the regression coefficient for each variable. After internal validation, the risk score maintained fair discrimination and good calibration. CONCLUSION: The prognostic scoring system based on patient performance status, body mass index and serum albumin, if validated on an independent cohort, would allow more objective decisions on whether to stage or not prior to embarking on palliative treatment, streamlining care and improving quality of life.

A review of key terminology and definitions used for birth defects globally.

Birth defects, also known as congenital disorders, are a significant health issue impacting at least five million births annually worldwide. For policymakers to mount a relevant healthcare response to care for those affected, the burden of disease of these conditions must be quantified. Estimates of the contribution of birth defects to under-5 child mortality and morbidity are generated by several groups globally. These estimates often differ, causing confusion for policymakers. While some differences may be attributed to the data sources and methods used, much is due to a lack of clarity in the terminology used for the group of disorders classed as "congenital". This study aimed to gain insight into the diversity of terms and definitions for birth defects, including those used routinely by relevant international/national organisations and in the peer-reviewed literature. This two-part study included (1) scoping review of peer-reviewed literature to identify terms and definitions in use for birth defects and (2) review of key websites and grey literature to identify terms and definitions used. The results of this study indicate a wide variety of terms being used, often interchangeably and undefined, in peer-reviewed publications, on institutional websites and related literature. This suggests a lack of clarity related to terminology and sets the scene for further discussion, recommending that the community of practice working on birth defects comes to a consensus on standard terminology and definitions for global uptake and implementation. Such standardisation will facilitate a common understanding of the burden of these disorders globally, regionally and within countries so that action can be taken to support affected children and their families.

Clinicopathological spectrum of small bowel obstruction and management outcomes in adults - experience at a regional academic hospital complex.

BACKGROUND: Delay in operative management of small bowel obstruction (SBO) results in increased morbidity and mortality. The objective was to evaluate clinical presentation and treatment outcome of SBO. METHOD: Prospective cohort study between 2013-2014. Adult patients presenting with SBO were included. Demographics, clinical details, investigations, operative findings, in-hospital progress and outcomes were documented. RESULTS: There were 156 patients (median age 37 [IQR 27-54 years]) with early (44) and delayed (112) presentation. M:F ratio was 1.4:1. Common causes of obstruction were adhesions (94; 60.3%) and hernias (31; 19.9%). Non-operative management was feasible in 59 patients (37.3%) with a success rate of 71.2%. Nonviable bowel was present in 45.1% (early 31%, delayed 50%; p = 0.078). Sixty-one patients (54%) underwent bowel resection; nine patients (20.5%) in the early presentation group and 52 (46.4%) in the delayed group (p = 0.003). Thirty-one patients needed ICU admission (early 5, delayed 26; p = 0.091). The delayed group had longer ICU stay (p = 0.018) and longer hospital stay (p < 0.001). There were more complications (p = 0.084) and re-laparotomies (p = 0.156) in the delayed group. Eight patients died (5.1%). CONCLUSION: The main causes of SBO were adhesions and hernias. Late presentation was associated with higher resection rate, higher critical care admission and longer hospital stay.

Oesophageal cancer in Area 2 of Kwazulu-Natal: predictors of late presentation.

BACKGROUND: There are limited prospective data sets on clinical characteristics, stage of presentation and treatment of patients with Oesophageal Squamous Cell Carcinoma (OSCC) in South Africa. This study aimed to assess the frequency and severity of clinical characteristics associated with late presentation of patients with OSCC presenting to a cancer referral centre in KwaZulu-Natal, South Africa. METHODS: A prospective consecutive series of patients presenting with confirmed OSCC treated at Greys Hospital in 2016/2017 were enrolled. Data collected included: age, gender, home language, referral centre, clinical and laboratory characteristics: dysphagia score, Eastern Cooperative Oncology Group (ECOG) performance status, body mass index (BMI), serum albumin, tumour pathology and treatment administered. RESULTS: One hundred patients were analysed. Ninety four percent spoke isiZulu. The mean age was 61 with a male to female ratio of 1.5:1 Ninety percent had palliative treatment as their overall assessment precluded curative treatment. Five patients underwent curative treatment. The age standardised incidence (ASR) was 25.2 per 100 000. The factors associated with late presentation and their frequency were: advanced dysphagia grade (

Validation and effect on diabetes control of glycated haemoglobin (HbA1c) point-of-care testing.

BACKGROUND: Optimal control of diabetes mellitus (DM) remains daunting globally. Point-of-care testing (POCT) for glycated haemoglobin (HbA1c) enables the clinician to make immediate management decisions and thereby improve DM control and complications. Better control is increasingly being striven for in developing countries where availability of POCT devices is limited. METHODS: Every alternate patient who visited the diabetes clinic at Edendale Hospital, Durban, South Africa, between 1 June 2017 and 31 August 2017 was invited to participate in the study. These patients made up the POCT group, with the remainder making up the control laboratory group. The POCT group had Quo-Test HbA1c POCT done at the clinic visit and their treatment was adjusted based on the HbA1c reading, while the control group received standard treatment. The two groups of patients were reviewed at 3 months to identify differences in diabetes control between them. RESULTS: Data from 266 patients were analysed (135 in the POCT group v. 131 in the control group). There was no significant difference between the price of the POCT and laboratory HbA1c tests (p=0.823). The POCT and laboratory HbA1c values showed good correlation at baseline (r=0.995; p<0.001). The two groups of patients were evenly matched in respect of most demographic and clinical variables. Patients in the POCT group showed a significant improvement in mean (standard deviation) glycaemic control between baseline and 3 months (9.61 (2.46) v. 8.98 (2.15); p<0.043). No improvement was noted in the control group (9.58 (2.49) v. 9.43 (2.15); p=0.823). CONCLUSIONS: The Quo-Test HbA1c POCT had good correlation with standard laboratory methods in respect of both glycaemic control and price. Patients who had POCT at baseline showed a significant improvement in glycaemic control at 3 months. HbA1c POCT in the setting of a multifaceted approach to diabetes care has been shown to have definite benefits.

Laparoscopy for blunt abdominal trauma: a challenging endeavor.

BACKGROUND AND AIMS: Laparoscopy in blunt abdominal trauma is challenging because of multiple associated injuries, higher trauma score values and higher morbidity and mortality, as compared with patients with penetrating abdominal trauma. The aim of this study was to investigate the role of laparoscopy in the management of blunt abdominal trauma patients and to highlight related challenges. MATERIAL AND METHODS: Over a 4-year period, patients managed laparoscopically for blunt abdominal trauma were retrospectively analyzed. Perioperative details, indications for laparoscopy and conversion, complications, and length of hospital stay were discussed. RESULTS: A total of 35 stable patients underwent laparoscopy. The mean Injury Severity Score was 12 (4-38). Therapeutic laparoscopy was performed in 15 (56%) and diagnostic in 12 (44%) patients. Eight (23%) patients were converted to therapeutic laparotomy. Intraoperative bleeding, complex injuries, visualization problem, and equipment failure necessitated conversion. Three (30%) patients with negative computed tomography scan had therapeutic laparoscopy for mesenteric injuries. There were no missed injuries. The mean length of hospital stay was 11 days in both groups. CONCLUSION: Laparoscopy for stable patients is feasible and safe. Multiple injuries make laparoscopy more difficult, and advanced laparoscopic skills are required. The conversion rate is high; however, the non-therapeutic laparotomies were completely eliminated in this study.

Congenital disorders in South Africa: A review of Child Healthcare Problem Identification Programme (Child PIP) mortality data, 2005 - 2017.

BACKGROUND: Congenital disorders (CDs) form a major challenge for those affected, and for the structuring of services around their health needs. In South Africa (SA) the size and nature of the problem are unknown because reporting of CDs has been unreliable. OBJECTIVES: To ascertain the occurrence and spectrum of congenital disorders in children dying in SA hospitals participating in the Child Healthcare Problem Identification Programme (Child PIP). METHODS: Child PIP has been used for auditing in-hospital childhood deaths in children's wards in SA state hospitals since 2005. By 2017, over 60 000 audited deaths had been entered into the Child PIP database. We searched this database for CD occurrence and spectrum. RESULTS: The number of deaths where a CD diagnosis was given as the Main Cause of Death was 243, 0.4% of all-cause mortality. In 1 678 deaths, CDs were assigned as an Underlying Condition, a 2.8% occurrence. A diagnosis of CD was assigned 1 968 times, indicating an overall CD burden in the children who died of 3.2%, many children having more than one CD diagnosis. The spectrum of CDs was wide, with CDs of the heart being most prominent. CONCLUSIONS: These new data paint a broad picture of the CD challenge that confronts the SA health system, a challenge that will increase in importance with the current decline in infectious diseases.

Trauma laparoscopy: A prospect of skills training (cohort study).

BACKGROUND: Diagnostic laparoscopy is well-accepted in management of penetrating abdominal trauma (PAT) with the rate of missed injuries below 1%. However, there is a reluctance to accept therapeutic laparoscopy in trauma society. The possible reason is a lack of laparoscopic skills by trauma surgeons. Moreover, no formal laparoscopy training program for trauma exists. The aim of this study was to interrogated our laparoscopy training particularly in trauma setting, and to investigate a possible relation between the seniority of surgeons performing the procedures and the complication rates. METHODS: All patients managed laparoscopically for PAT from January 2012 to December 2015 were analyzed. The seniority of operating surgeon was correlated with adverse outcomes, and with conversion. Surgeon-consultant (SC), assistant-consultant (AC), surgeon-senior-resident (SSR) and surgeon-junior-resident (SJC) groups were identified. Laparoscopic maneuvers used in this cohort were investigated and the set of essential laparoscopic skills was identified. The laparoscopic training program at our institution was described and discussed. RESULTS: Out of 283 patients with PAT approached with laparoscopy 33 (11.7%) were converted to laparotomy. Majority (49.6%) of laparoscopy was performed by senior resident. Consultant was an operating surgeon in 21.2% and an assistant in 8% of cases. Consultant was involved in cases with higher severity of injury and the complication rate was higher in the SC and AC groups. Essential laparoscopic skills were camera navigation, mobilization of intraabdominal organs, bowel run and intracorporeal suturing. During training, a senior resident was involved in 19% of operations for trauma. Trauma constituted 16% of all laparoscopy. CONCLUSION: Laparoscopy for trauma can be safely performed by residents under appropriate supervision. Laparoscopic skills should preferably be obtained during elective non-trauma procedures and transferred to trauma setting. Multimodal goal-directed, proctored training with regular assessments and feedback is effective and skills are transferable to trauma setting.

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency in South Africa.

BACKGROUND: Congenital adrenal hyperplasia (CAH) caused by deficiency of the 21-hydoxylase (21-OH) enzyme is the most common form of CAH worldwide. OBJECTIVE: To evaluate the prevalence of CAH due to 21-OH deficiency, and its clinical presentation and biochemical profiles in affected children. METHODS: We performed a retrospective subset analysis of 44 children with confirmed CAH. RESULTS: All the children had classic CAH. The majority (59.8%) had classic salt-wasting (CSW) CAH and 40.1% had simple virilising (SV) CAH. The median age of presentation was 8.1 years (interquartile range (IQR) 4.5 - 11) in the SV group and 2 months (IQR 2 weeks - 5 months) in the CSW group (p=0.0001). No difference in age of presentation was noted between males and females (p=0.541). The clinical presentation was significantly different between the CSW and SV groups, and between males and females in the CSW group (p<0.0001). Most of the females with 46,XX CSW CAH (66.7%) presented with disorders of sex development (DSD), while the remaining 33.3% presented with DSD and dehydration and shock. All the males with 46,XY CSW CAH presented with dehydration and shock. Overall, 37.9% (11/29) of the children were obese or overweight at presentation. Gonadotrophin-releasing hormone-dependent central precocious puberty was observed on follow-up in 29.4% (10/34) of the children at a median of 6.7 years (IQR 5 - 7.7). CONCLUSION: The diagnosis of CAH is delayed in males and females in both SV and CSW forms of the disorder, which probably contributes to under-reporting of cases and a high mortality rate.

Auditing surgical service provision at a South African tertiary institution: Implications for the development of district services.

BACKGROUND: The optimal management of resources within South African state hospitals has been hampered by a paucity of data due to a lack of robust auditing information systems. This study reviews the use of a Hybrid Electronic Medical Record (HEMR) system to capture and aggregate data pertaining to the inpatient service demands on a South African tertiary surgical service. This dataset was used to analyse the appropriateness of tertiary surgical resource utilisation. METHOD: The HEMR system was implemented at Greys Hospital, in the city of Pietermaritzburg, Kwa-Zulu Natal, South Africa on 1 January 2013. Inpatient data pertaining to surgical admissions and operative interventions were captured prospectively. Following an 18-month study period, the data were extracted, aggregated and analysed. The district referral hospitals were mapped, and district surgical procedures performed within the tertiary center were identified and quantified. Results: 7314 patients were admitted and managed by the tertiary surgical service during the study period. The median patient age was 33 years (IQR 6.5-42.4 years). 59.7% were male and 40.3% were female. General, trauma and paediatric surgical admissions constituted 54.8%, 28.6% and 16.6% respectively. Emergency admissions constituted 62.4% and elective admissions 37.6%. Referral sources were captured for 6653 (91%) of the cohort. 4338 (65.2%) patients were referred from district hospitals. The district hospital (Northdale) closest to Greys Hospital was responsible for 1675 (25.2%) of surgical referrals. 4174 operative procedures were performed during the study period, 54.7% performed as an emergency, 34.1% electively and 11.2% semi-electively. The median waiting time for emergency operative intervention was 535 minutes (IQR 130-663). A total of 1272 (30.5%) operative procedures performed were assessed as district-level operations. The time intervals of 07:00-07:59 and 17:00-17:59 were identified as the time periods during which the least number of emergency procedures were performed in the operating theatres. CONCLUSION: The HEMR system enabled the Pietermaritzburg Metropolitan Department of Surgery to quantify the burden of surgical disease and map district referral patterns. Thirty percent of operative procedures performed were assessed as district-level operations. Potentially correctable deficits identified within the tertiary center were lengthy delays to emergency surgery and non-optimal theatre utilisation periods.

Effectiveness of Schroth exercises during bracing in adolescent idiopathic scoliosis: results from a preliminary study-SOSORT Award 2017 Winner.

BACKGROUND: Bracing has been shown to decrease significantly the progression of high-risk curves to the threshold for surgery in patients with adolescent idiopathic scoliosis (AIS), but the treatment failure rate remains high. There is evidence to suggest that Schroth scoliosis-specific exercises can slow progression in mild scoliosis. The aim of this study was to evaluate the efficacy of Schroth exercises in AIS patients with high-risk curves during bracing. METHODS: A prospective, historical cohort-matched study was carried out. Patients diagnosed with AIS who fulfilled the Scoliosis Research Society (SRS) criteria for bracing were recruited to receive Schroth exercises during bracing. An outpatient-based Schroth program was given. Data for these patients were compared with a 1:1 matched historical control group who were treated with bracing alone. The assessor and statistician were blinded. Radiographic progression, truncal shift, and SRS-22r scores were compared between cases and controls. RESULTS: Twenty-four patients (5 males and 19 females, mean age 12.3 ± 1.4 years) were included in the exercise group, and 24 patients (mean age 11.8 ± 1.1 years) were matched in the control group. The mean follow-up period for the exercise group was 18.1 ± 6.2 months. In the exercise group, spinal deformity improved in 17% of patients (Cobb angle improvement of ≥ 6°), worsened in 21% (Cobb angle increases of ≥ 6°), and remained stable in 62%. In the control group, 4% improved, 50% worsened, and 46% remained stable. In the subgroup analysis, 31% of patients who were compliant (13 cases) improved, 69% remained static, and none had worsened, while in the non-compliant group (11 cases), none had improved, 46% worsened, and 46% remained stable. Analysis of the secondary outcomes showed improvement of the truncal shift, angle of trunk rotation, the SRS function domain, and total scores in favor of the exercise group. CONCLUSION: This is the first study to investigate the effects of Schroth exercises on AIS patients during bracing. Our findings from this preliminary study showed that Schroth exercise during bracing was superior to bracing alone in improving Cobb angles, trunk rotation, and QOL scores. Furthermore, those who were compliant with the exercise program had a higher rate of Cobb angle improvement. The results of this study form the basis for a randomized controlled trial to evaluate the effect of Schroth exercises during bracing in AIS. TRIAL REGISTRATION: HKUCTR-2226. Registered 22 June 2017 (retrospectively registered).

Wound infection secondary to snakebite.

BACKGROUND: Snakebites can produce severe local and systemic septic complications as well as being associated with significant overall morbidity and even mortality. OBJECTIVE: A prospective audit was undertaken to determine the bacterial causation of wound infection secondary to snakebite, and attempt to quantify the burden of disease. METHODS: The audit was undertaken at Ngwelezane Hospital, which provides both regional and tertiary services for north-eastern KwaZulu-Natal Province, South Africa, over a 4-month period. Records of patients who required surgical debridement for extensive skin and soft-tissue necrosis were analysed. At the time of debridement, tissue samples of necrotic or infected tissue were sent for bacteriological analysis as standard of care. Microbiology results were analysed. RESULTS: A total of 164 patients were admitted to hospital for management of snakebite, of whom 57 required surgical debridement and 42 were included in the final microbiological analysis. Children were found to be the most frequent victims of snakebite; 57.8% of patients in this study were aged ≤10 years and 73.7% ≤15 years. Culture showed a single organism in 32/42 cases, two organisms in 8 and no growth in 2. Eight different types of organisms were cultured, five of them more than once. Thirty-five specimens (83.3%) grew Gram-negative Enterobacteriaceae, the most frequent being Morganella morganii and Proteus species. Thirteen specimens (31.0%) grew Enterococcus faecalis. Gram-negative Enterobacteriaceae showed 31.4% sensitivity to ampicillin, 40.0% sensitivity to amoxicillin plus clavulanic acid, 34.3% sensitivity to cefuroxime, 97.1% sensitivity to ceftriaxone, and 100% sensitivity to ciprofloxacin, gentamicin and amikacin. E. faecalis was 92.3% sensitive to amoxicillin, 92.3% sensitive to amoxicillin plus clavulanic acid, 100% sensitive to ciprofloxacin, 92.3% resistant to erythromycin and 100% resistant to ceftriaxone. CONCLUSION: Children are particularly vulnerable to snakebite, and the consequences can be devastating. While the majority of patients in this study were shown to have secondary bacterial infection, debridement and subsequent wound management is considered the mainstay of treatment. Common organisms are Enterobacteriaceae and enterococci. There appears to be a role for antibiotics in the management of these patients. A good antibiotic policy is strongly advocated.

Mutations of mtDNA polymerase-γ and hyperlactataemia in the HIV-infected Zulu population of South Africa.

BACKGROUND: Mitochondrial toxicity, particularly symptomatic hyperlactataemia or lactic acidosis (SHL/LA), has been attributed to the use of nucleoside reverse transcriptase inhibitors (NRTIs), possibly because of their capacity to impede human mitochondrial DNA polymerase-γ (POLG), which is responsible for the replication of mitochondrial DNA. OBJECTIVE: To determine whether known monogenic POLG1 polymorphisms could be linked with the unexpectedly high incidence of SHL/LA observed in HIV-infected Zulu-speaking patients exposed to the NRTIs stavudine or zidovudine in their antiretroviral therapy. METHODS: One hundred and sixteen patients from Edendale Hospital, Pietermaritzburg, South Africa, participated in the study between March and August 2014. Fifty-nine symptomatic cases were compared with 57 non-symptomatic controls on stavudine for ≥24 months. Among the symptomatic patients, 13 had SHL with measured lactate between 3.0 and 4.99 mmol/L, and 46 had LA with a lactate level ≥5 mmol/L. Genomic DNA from 113 samples was used for subsequent allelic discrimination polymerase chain reaction screening for the R964C and E1143G single-nucleotide polymorphisms of POLG1. Sequencing was performed for 40/113 randomly selected samples for confirmation of the genotyping results. RESULTS: Neither of the two known POLG1 mutations was observed. The cases presented with SHL/LA between 4 and 18 months on stavudine. Females (70.4%) were significantly (p<0.001) more likely to be cases (adjusted odds ratio 24.24, 95% CI 5.14 - 114.25) compared with males. CONCLUSION: This study has shown that our sample of the Zulu-speaking population does not exhibit a genetic predisposition to SHL/LA associated with known monogenic POLG1 mutations, indicating another possible predisposing factor for increased risk of SHL/LA.

South African congenital disorders data, 2006 - 2014.

BACKGROUND: The National Department of Health in South Africa (SA) routinely collects congenital disorder (CD) data for its national CD surveillance system. The current system has been implemented since 2006, but no reports on the data collected, methodology, achievements or challenges have been published to date. OBJECTIVES: To ascertain the effectiveness of the current national CD surveillance system and its implementation. METHOD: A descriptive, retrospective study using an audit of the current database was undertaken to evaluate the number of notifications received, types of CDs reported and the quality of reporting across SA for data received from 2006 to 2014. RESULTS: A total of 14 571 notifications were received, including 13 252 CDs and 1 319 zero notifications, across all nine provinces. Commonly reported CDs included Down syndrome, cleft lip and palate, talipes equinovarus, neural tube defects and albinism. CONCLUSIONS: The major challenges identified included erratic compliance by health facilities and a lack of healthcare providers trained in human genetics related to CDs. This has led to misdiagnosed and undiagnosed CDs, collectively resulting in under-reporting of cases by >98% during the review period. Owing to limited human and financial resources, it is recommended that the surveillance system be modified into an electronic format. This should be piloted alongside relevant training in specific sentinel sites, to improve data coverage and quality for further evaluation.

Carbohydrate intake, obesity, metabolic syndrome and cancer risk? A two-part systematic review and meta-analysis protocol to estimate attributability.

INTRODUCTION: Linkages between carbohydrates, obesity and cancer continue to demonstrate conflicting results. Evidence suggests inconclusive direct linkages between carbohydrates and specific cancers. Conversely, obesity has been strongly linked to a wide range of cancers. The purpose of the study is to explore linkages between carbohydrate intake and cancer types using a two-step approach. First the study will evaluate the linkages between carbohydrate intake and obesity, potentially stratified by metabolic syndrome status. Second, the estimated attributable fraction of obesity ascribed to carbohydrate intake will be multiplied against obesity attributable fractions for cancer types to give estimated overall attributable fraction for carbohydrate versus cancer type. METHODS AND ANALYSIS: We will perform a comprehensive search to identify all possible published and unpublished studies that have assessed risk factors for obesity including dietary carbohydrate intake. Scientific databases, namely PubMed MEDLINE, EMBASE, EBSCOhost and ISI Web of Science will be searched. Following study selection, paper/data acquisition, and data extraction and synthesis, we will appraise the quality of studies and risk of bias, as well as assess heterogeneity. Meta-weighted attributable fractions of obesity due to carbohydrate intake will be estimated after adjusting for other potential confounding factors (eg, physical inactivity, other dietary intake). Furthermore, previously published systematic reviews assessing the cancer-specific risk associated with obesity will also be drawn. These estimates will be linked with the attributability of carbohydrate intake in part 1 to estimate the cancer-specific burden that can be attributed to dietary carbohydrates. This systematic review protocol has been developed according to the 'Preferred Reporting Items for Systematic review and Meta-Analysis Protocols (PRISMA-P) 2015'. ETHICS AND DISSEMINATION: The current study will be based on published literature and data, and, as such, ethics approval is not required. The final results of this two part systematic review (plus multiplicative calculations) will be published in a relevant international peer-reviewed journal. TRIAL REGISTRATION NUMBER: PROSPERO CRD42015023257.