Genome-wide association study of esophageal squamous cell cancer identifies shared and distinct risk variants in African and Chinese populations.

Esophageal squamous cell carcinoma (ESCC) has a high disease burden in sub-Saharan Africa and has a very poor prognosis. Genome-wide association studies (GWASs) of ESCC in predominantly East Asian populations indicate a substantial genetic contribution to its etiology, but no genome-wide studies have been done in populations of African ancestry. Here, we report a GWAS in 1,686 African individuals with ESCC and 3,217 population-matched control individuals to investigate its genetic etiology. We identified a genome-wide-significant risk locus on chromosome 9 upstream of FAM120A (rs12379660, p = 4.58 × 10-8, odds ratio = 1.28, 95% confidence interval = 1.22-1.34), as well as a potential African-specific risk locus on chromosome 2 (rs142741123, p = 5.49 × 10-8) within MYO1B. FAM120A is a component of oxidative stress-induced survival signals, and the associated variants at the FAM120A locus co-localized with highly significant cis-eQTLs in FAM120AOS in both esophageal mucosa and esophageal muscularis tissue. A trans-ethnic meta-analysis was then performed with the African ESCC study and a Chinese ESCC study in a combined total of 3,699 ESCC-affected individuals and 5,918 control individuals, which identified three genome-wide-significant loci on chromosome 9 at FAM120A (rs12379660, pmeta = 9.36 × 10-10), chromosome 10 at PLCE1 (rs7099485, pmeta = 1.48 × 10-8), and chromosome 22 at CHEK2 (rs1033667, pmeta = 1.47 × 10-9). This indicates the existence of both shared and distinct genetic risk loci for ESCC in African and Asian populations. Our GWAS of ESCC conducted in a population of African ancestry indicates a substantial genetic contribution to ESCC risk in Africa.

Factors associated with in-hospital mortality in HIV-infected children treated for tuberculous meningitis hydrocephalus.

PURPOSE: The study aimed to investigate factors associated with in-hospital mortality in children diagnosed with tuberculous meningitis (TBM) hydrocephalus and HIV co-infection undergoing cerebrospinal fluid diversion procedures and their complications. METHODS: Data were collected retrospectively and prospectively between 2007 and 2022. Data collected included demographics, clinical characteristics, antiretroviral therapy (ART) status, biochemistry results, CD4 count, radiology findings, CSF diversion procedures (and complications), length of hospital stay (LOHS), and in-hospital mortality. RESULTS: Thirty-one children were included, with a mean age of 6.7 ± 5.3 years and 67.7% males. Median admission Glasgow Coma Scale (GCS) was 11 (IQR 9-15). Hypertonia (64.5%) and seizures (51.6%) were frequently observed clinical characteristics. Sixty-one percent of children were on ART. Cerebral infarcts and extra-meningeal TB were diagnosed in 64.5% and 19.3% of cases, respectively. The median CD4 count was 151 (IQR 70-732) cells/µL. Surgical procedures included ventriculoperitoneal shunt (VPS) in 26 cases and endoscopic third ventriculostomy (ETV) in five children. VPS complication rate was 27%. No complications were reported for ETV. Median LOHS was 7 days (IQR 4-21). Eleven children (35.5%) died during admission. Factors associated with mortality included GCS (p = 0.032), infarcts (p = 0.004), extra-meningeal TB (p = 0.003), VPS infection (p = 0.018), low CD4 count (p = 0.009), and hyponatremia (p = 0.002). No statistically significant factors were associated with VPS complications. CONCLUSION: TBM hydrocephalus in HIV-infected children carries a high mortality. Clinicians in high-prevalence settings should have a high suspicion index and institute early treatment.

Pathogenesis of COVID-19 described through the lens of an undersulfated and degraded epithelial and endothelial glycocalyx.

The glycocalyx surrounds every eukaryotic cell and is a complex mesh of proteins and carbohydrates. It consists of proteoglycans with glycosaminoglycan side chains, which are highly sulfated under normal physiological conditions. The degree of sulfation and the position of the sulfate groups mainly determine biological function. The intact highly sulfated glycocalyx of the epithelium may repel severe acute respiratory syndrome-related coronavirus 2 (SARS-CoV-2) through electrostatic forces. However, if the glycocalyx is undersulfated and 3-O-sulfotransferase 3B (3OST-3B) is overexpressed, as is the case during chronic inflammatory conditions, SARS-CoV-2 entry may be facilitated by the glycocalyx. The degree of sulfation and position of the sulfate groups will also affect functions such as immune modulation, the inflammatory response, vascular permeability and tone, coagulation, mediation of sheer stress, and protection against oxidative stress. The rate-limiting factor to sulfation is the availability of inorganic sulfate. Various genetic and epigenetic factors will affect sulfur metabolism and inorganic sulfate availability, such as various dietary factors, and exposure to drugs, environmental toxins, and biotoxins, which will deplete inorganic sulfate. The role that undersulfation plays in the various comorbid conditions that predispose to coronavirus disease 2019 (COVID-19), is also considered. The undersulfated glycocalyx may not only increase susceptibility to SARS-CoV-2 infection, but would also result in a hyperinflammatory response, vascular permeability, and shedding of the glycocalyx components, giving rise to a procoagulant and antifibrinolytic state and eventual multiple organ failure. These symptoms relate to a diagnosis of systemic septic shock seen in almost all COVID-19 deaths. The focus of prevention and treatment protocols proposed is the preservation of epithelial and endothelial glycocalyx integrity.

The review of genetic screening services and common BRCA1/2 variants among South African breast cancer patients.

The South African genetic screening services for breast cancer comprise targeted and comprehensive tests that screen for the presence of genetic alterations. Clinically, these variants determine the risk of disease development as well as treatment approaches best suited for carriers. The current targeted tests screen for seven pathogenic sequence variants, which are mainly common among Whites, a population that constitutes 9.1% of South Africa. However, these tests are offered to all patients despite consistent negative results observed among Blacks, Indians, and Mixed ancestry (known as Coloreds in South Africa). Consequently, Blacks, White, and Colored patients who potentially carry other variants receive unbefitting treatment, resulting in poor clinical response, recurrence, and high mortality. This review aimed to identify the presence and incidence of pathogenic variants in BRCA1/2 previously reported in all South African populations. We selected literature using a scoping review approach, from which we included eight articles and two reports. Overall, we identified 59 BRCA1 and 60 BRCA2 pathogenic sequence variants from a cohort of 5709 patients and unknown patients from 90 families. The most reported variant was BRCA2 c.7943delG, which was common in White and Colored patients. None of the seven common variants was reported in either Blacks or Indians, which demonstrates the urgency to tailor genetic tests which are optimal for all South African patients and present a range of variants which could serve as diagnostic targets for Black, Indian, and Colored patients.

Novel GRHL3 Variants in a South African Cohort With Cleft Lip and Palate.

OBJECTIVE: The etiology of cleft palate (CP) is poorly understood compared with that of cleft lip with or without palate (CL ± P). Recently, variants in Grainyhead like transcription factor 3 (GRHL3) were reported to be associated with a risk for CP in European and some African populations including Nigeria, Ghana, and Ethiopia. In order to identify genetic variants that may further explain the etiology of CP, we sequenced GRHL3 in a South African population to determine if rare variants in GRHL3 are associated with the presence of syndromic or nonsyndromic CP. DESIGN: We sequenced the exons of GRHL3 in 100 cases and where possible, we sequenced the parents of the individuals to determine the segregation pattern and presence of de novo variants. SETTING: The cleft clinics from 2 public, tertiary hospitals in Durban, South Africa (SA), namely Inkosi Albert Luthuli Central Hospital and KwaZulu-Natal Children's Hospital. PATIENTS, PARTICIPANTS: One hundred patients with CL ± P and their parents. INTERVENTIONS: Saliva samples were collected. MAIN OUTCOME MEASURES: To ascertain the genetic variants in the GRHL3 gene in patients with CL ± P in SA. RESULTS: Five variants in GRHL3 were observed; 3 were novel and 2 were known variants. The novel variants were intronic variants (c.1062 + 77A>G and c.627 + 1G>A) and missense variant (p.Asp169Gly). CONCLUSIONS: This study provides further evidence that variants in GRHL3 contribute to the risk of nonsyndromic CP in African populations, specifically, in the South African population.

Jejuno-ileal atresia: its characteristics and peculiarities concerning apple peel atresia, focused on its treatment and outcomes as experienced in one of the leading South African academic centres.

PURPOSE: Jejuno-ileal atresia remains the most common form of intestinal obstruction in the neonatal and infantile age group and has an incidence of 1:300 to 1:1500. Apple peel atresia (APA) is the rarest of the five described types. The morbidity and mortality of patients with APA managed at our institution are high, and we review our experience with this paper. We compared our outcomes with other developed and developing countries. In addition, we looked at factors that affect outcome and how we can change them. METHODS: The study was a retrospective review of all patients treated with APA at IALCH between January 2002 and December 2010 and includes 34 patients. RESULTS: The results revealed a mortality in excess of 70%. There were poor antenatal screening, a high rate of prematurity and often delays in transfer to our institution. Relaparotomy and sepsis rates were high. CONCLUSION: This review represents a significant number of patients with APA from a single institution. Although survival rates have improved significantly over the years, APA remains a life-threatening malformation and results in significant morbidity and mortality in our setting.

Africa's challenged ENT services: highlighting challenges in Zambia.

BACKGROUND: Diseases of the ear, nose and throat (ENT) are common and are a major cause of morbidity and mortality. In many low income countries like Zambia, the high ENT disease burden has not received the required resources for treatment. We investigated ENT service provision in hospitals in Zambia by documenting the profile of hospitals offering ENT services and examining the country's ENT services with regards to human resource, infrastructure and availability of equipment based on the levels of care of various hospitals. METHODS: The study was a cross-sectional descriptive survey conducted using a structured and piloted questionnaire which was administered to the 109 Ministry of Health (MoH) registered hospitals across the country. Ethical clearance was granted by University of KwaZulu-Natal and the Zambia National Health Research Authority. Participation in the study was voluntary and all respondents signed informed consent. Descriptive statistics were used to analyse the data. RESULTS: Of the 109 hospitals approached to participate in the study, 61 (55.9%) hospitals responded. This represented 83.3% (n = 5) of Third Level Hospitals (TLH), 89.5% (n = 17) of Second Level Hospitals (SLH) and 41.7% (n = 35) of First Level Hospitals (FLH) countrywide. Of the participating hospitals, 6.6% (n = 4) were unclassified. Within this sample, 8.6% (n = 3) FLH, 11.8% (n = 2) SLH and 60.0% (n = 3) TLH had an ENT examination room. Only 2.9% (n = 4) hospitals had an audiology booth and 1.6% (n = 1) had a speech therapy room. Of the second and third level hospitals, 9.1% (n = 2) had flexible rhinolaryngoscopes, 18.2% (n = 4) had operating microscopes and 68.2% (n = 15) adenotonsillectomy sets. The data revealed that there were 4 ENT surgeons, 1 Audiologist and no Speech Therapists across the country. CONCLUSION: Zambia's ENT services were deficient at all levels of hospital care. There were deficiencies in infrastructure, human resource and equipment in hospitals. With the current burden of disease, critical intervention is required. These findings should be used to direct national policy on the improvement of ENT service provision in Zambia.

Flexion location of the first metatarsophalangeal joint and the location of forefoot bend in general purpose women's footwear.

BACKGROUND: General purpose footwear could have a built-in flexion location which may not match the anatomical fulcrum location for an individual's foot. Mismatched fulcra impact on joint function, and may delay healing of an injured first metatarsophalangeal joint (first MP joint). This study compared the location of the first MP joint in an asymptomatic sample of the South African female population to the bend location set within the lasts (used by footwear manufacturers) to find whether mismatches of the flexion locations of the joint to the bending location of the footwear were likely. METHODS: The study used a three dimensional foot measurement database of 453 female participants to find the fulcrum location of the first MP joint. The distance between the heel and the first MP joint was expressed as a percentage of the overall length of the unshod foot. Similar measures for sandals and closed shoes were derived, and all were compared to manufacturer last data. RESULTS: The location of first MP joint ranged from 70% to 79% of total foot length, significantly different from last design specifications of 63% or 66% (p<0.0001). The range of first MP joint fulcrum locations in the same size feet occurred in a wide 24mm mediolateral band under the forefoot, termed a flexion zone. CONCLUSIONS: The first MP joint cannot properly function as a fulcrum unless footwear has a matching flexion location. Footwear designs should incorporate a wide flexion zone located under the forefoot to permit the range of first MP joint flexion locations. Recommendations to patients are to select appropriate flexible footwear to prevent shear forces, reduce strain, prevent injury and enable range of motion function and healing of injury.

Laparoscopic management of retroperitoneal injuries from penetrating abdominal trauma in haemodynamically stable patients.

BACKGROUND: Laparoscopy is increasingly utilised in the trauma setting. However, its safety and reliability in evaluating and managing retroperitoneal injuries are not known. AIM: The aim of this study was to analyse our experience with laparoscopic management of retroperitoneal injuries due to penetrating abdominal trauma (PAT) and to investigate its feasibility, safety and accuracy in haemodynamically stable patients. METHODS: Over a 4-year period, patients approached laparoscopically with retroperitoneal injuries were analysed. Mechanism, location and severity of injuries were recorded. Surgical procedures, conversion rate and reasons for conversion and outcomes were described. RESULTS: Of the 284 patients with PAT, 56 patients had involvement of retroperitoneum. Stab wounds accounted 62.5% of patients. The mean Injury Severity Score was 7.4 (4-20). Among retroperitoneal injuries, the colon (27%) was the most commonly involved hollow viscera followed by duodenum (5%). The kidney (5%) and the pancreas (4%) were the injured solid organs. The conversion rate was 19.6% and was mainly due to active bleeding (73%). Significantly more patients with gunshot wound were converted to laparotomy (38% vs. 9%). Therapeutic laparoscopy was performed in 36% of patients. There were no recorded missed injuries or mortality. Five (9%) patients developed the Clavien-Dindo Grade 3 complications, three were managed with reoperation, one with drainage/debridement and one with endovascular technique. CONCLUSION: Laparoscopic management of retroperitoneal injuries is safe and feasible in haemodynamically stable patients with PAT. However, a high conversion rate indicates difficulties in managing these injuries. The requirements are the dexterity in laparoscopy and readiness to convert in the event of bleeding.

Diagnostic laparoscopy or selective non-operative management for stable patients with penetrating abdominal trauma: What to choose?

Background: Selective non-operative management (NOM) and diagnostic laparoscopy (DL) are well-accepted approaches in the management of stable patients with penetrating abdominal trauma (PAT). The aim of this pilot study was to investigate the advantages and disadvantages of early DL in stable asymptomatic or minimally symptomatic patients with PAT as opposed to NOM, a standard of care in this scenario. The secondary aim was to suggest possible indications for DL. Methods: Patients managed with DL or NOM over a 12-month period were included in this study. The age, gender, mechanism and location of injuries, trauma scores, haemodynamic and metabolic parameters, intraoperative findings and length of hospital stay (LOS) were recorded and correlated with outcomes. Results: Thirty-six patients were in the NOM group and 35 in the DL group. Stab wounds were more common. The most common location of injury was the anterior abdominal wall in the NOM group and the lower chest in the DL group. Computed tomography (CT) scan was performed more often in the NOM group (75% vs. 17.1%). The injury severity score (ISS), New ISS and PAT Index were higher in the DL group. Nearly 23 (66%) patients in the DL group had a penetration of the peritoneum, but no significant abdominal injuries. LOS in the NOM group was 2 days versus 3.1 days in the DL group. There were no missed injuries, complications or mortality. Conclusion: NOM is a preferred modality for minimally symptomatic stable patients. However, there is a risk of missed injuries and delayed treatment. DL accurately visualizes injuries, decreases unnecessary CT scans and avoids nontherapeutic laparotomies.

Trauma laparoscopy: when to start and when to convert?

BACKGROUND: The use of laparoscopy for stable patients with abdominal trauma is increasing and its accuracy is nearly 100%. However, indications for laparoscopy and for conversion differ among centers. The aim of this study was to investigate indications for trauma laparoscopy and for conversion to laparotomy. METHODS: All trauma patients managed with laparoscopy over a 4-year period were retrospectively analyzed. Indications for laparoscopy, morbidity, and reasons for conversion were investigated and predictors of morbidity and conversion were sought. The management algorithm of trauma patients was reviewed and updated. RESULTS: Laparoscopy was used in 318 stable trauma patients. Thirty-five patients presented with blunt and 283 with penetrating abdominal injuries. The conversion rate was 11.7% for penetrating and 22.9% for blunt abdominal trauma patients. The most common reason for conversion was continuous intraabdominal bleeding that could not be controlled quickly. It was followed by multiple complex injuries, hemodynamic instability, and intraoperative visualization problems. Diagnostic laparoscopy was performed in 45%, and therapeutic laparoscopy in 55% of cases. There were no missed injuries. Complications occurred in 21.2% in the converted group and in 9.6% in the laparoscopic group. Among initial systolic blood pressure, pulse, hemoglobin, lactate, and base deficit levels, only lower pH was associated with conversion. CONCLUSION: The management of all stable trauma patients with laparoscopy appears to be a safe approach. The use of sound laparoscopic equipment by a well-coordinated trauma team with adequate expertise in laparoscopy, adherence to the algorithm, and strict compliance with predetermined procedural steps are fundamental to success. Continuous intraoperative bleeding, complexity of injuries, deterioration of the patient, poor visibility, and equipment failure are indications for conversion.

Strategies and challenges for communicating the diagnosis of cancer in cross-cultural clinical settings-Perspectives from South African healthcare professionals.

Communicating the diagnosis of cancer in cross-cultural clinical settings is a complex task. This qualitative research article describes the content and process of informing Zulu patients in South Africa of the diagnosis of cancer, using osteosarcoma as the index diagnosis. We used a descriptive research design with census sampling and focus group interviews. We used an iterative thematic data analysis process and Guba's model of trustworthiness to ensure scientific rigor. Our results reinforced the use of well-accepted strategies for communicating the diagnosis of cancer. In addition, new strategies emerged which may be useful in other cross-cultural settings. These strategies included using the stages of cancer to explain the disease and its progression and instilling hope using a multidisciplinary team care model. We identified several patients, professionals, and organizational factors that complicate cross-cultural communication. We conclude by recommending the development of protocols for communication in these cross-cultural clinical settings.

Interpersonal violence: quantifying the burden of injury in a South African trauma centre.

INTRODUCTION: Interpersonal violence is an epidemic in South Africa and remains an under-reported and expensive burden on health resources. In most of the developing world there is little or no descriptive information about the expense of treating the consequences of interpersonal violence. OBJECTIVE: To review the direct burden of interpersonal violence on a tertiary hospital in Northern KwaZulu-Natal, an area known to have high rates of poverty and violent crime. MATERIAL AND METHODS: A retrospective case note review of emergency hospital admissions between January and March 2013 was carried out. The reports included demographic characteristics, admitting diagnosis and surgical management. Case files were reviewed to determine cost drivers, such as radiological investigations, blood products, theatre usage and specialist care. RESULTS: Trauma accounted for 374 hospital admissions from the emergency department, of which 142 (38%) were attributable to interpersonal violence (16% of total admissions). One hundred and fifty-six hospital bed days were used over the study period. The average inpatient stay was 9.8 days with 58% requiring a resuscitation bed on admission. One-third of patients underwent emergency surgery and eight patients required postoperative intensive care. The minimum hospital expenditure for interpersonal violence injuries over 3 months was R8 367 788 ($783 960). DISCUSSION: Interpersonal violence is the source of a significant financial burden on the South African health system. Patients are often severely injured and require a high level of specialist investigations and surgical care. This study gives evidence to improve budget and workload planning for regional surgical departments and supports the need for more effective primary prevention.

Using a hybrid electronic medical record system for the surveillance of adverse surgical events and human error in a developing world surgical service.

INTRODUCTION: The quantification and analysis of adverse events is essential to benchmark surgical outcomes and establish a foundation for quality improvement interventions. We developed a hybrid electronic medical record (HEMR) system for the accurate collection and integration of data into a structured morbidity and mortality (M&M) meeting. METHODOLOGY: The HEMR system was implemented on January 1, 2013. It included a mechanism to capture and classify adverse events using the ICD-10 coding system. This was achieved by both prospective reporting by clients and by retrospective sentinel-event-trawling performed by administrators. RESULTS: From January 1, 2013 to March 20, 2014, 6,217 patients were admitted within the tertiary surgical service of Greys Hospital. A total of 1,314 (21.1 %) adverse events and 315 (5.1 %) deaths were recorded. The adverse events were divided into 875 "pathology-related" morbidities and 439 "error-related" morbidities. Pathology-related morbidities included 725 systemic complications and 150 operative complications. Error-related morbidities included 257 cognitive errors, 158 (2.5 %) iatrogenic injuries, and 24 (1.3 %) missed injuries. Error accounted for 439 (33 %) of the total number of adverse events. A total of 938 (71.4 %) adverse events were captured prospectively, whereas the remaining 376 (28.6 %) were captured retrospectively. The ICD-10 coding system was found to have some limitations in its classification of adverse events. CONCLUSIONS: The HEMR system has provided the necessary platform within our service to benchmark the incidence of adverse events. The use of the international ICD-10 coding system has identified some limitations in its ability to classify and categorise adverse events in surgery.

The accuracy of the Alvarado score in predicting acute appendicitis in the black South African population needs to be validated.

BACKGROUND: The Alvarado score is the most widely used clinical prediction tool to facilitate decision-making in patients with acute appendicitis, but it has not been validated in the black South African population, which has much wider differential diagnosis than developed world populations. We investigated the applicability of this score to our local population and sought to introduce a checklist for rural doctors to facilitate early referral. METHODS: We analyzed patients with proven appendicitis for the period January 2008 to December 2012. Alvarado scores were retrospectively assigned based on patients' admission charts. We generated a clinical probability score (1-4 = low, 5-6 = intermediate, 7-10 = high). RESULTS: We studied 1000 patients (54% male, median age 21 yr). Forty percent had inflamed, nonperforated appendices and 60% had perforated appendices. Alvarado scores were 1-4 in 20.9%, 5-6 in 35.7% and 7-10 in 43.4%, indicating low, intermediate and high clincial probability, respectively. In our subgroup analysis of 510 patients without generalized peritonitis, Alvarado scores were 1-4 in 5.5%, 5-6 in 18.1% and 7-10 in 76.4%, indicating low, intermediate and high clinical probability, respectively. CONCLUSION: The widespread use of the Alvarado score has its merits, but its applicability in the black South African population is unclear, with a significant proportion of patients with the disease being potentially missed. Further prospective validation of the Alvarado score and possible modification is needed to increase its relevance in our setting.

CONTEXTE: Le score d'Alvarado est l'outil de prédiction clinique le plus couramment utilisé pour faciliter la prise de décision chez les patients présentant une appendicite aiguë, mais il n'a pas été validé dans la population noire sud-africaine chez qui le diagnostic différentiel est beaucoup plus vaste que dans les populations des pays industrialisés. Nous avons exploré l'applicabilité de ce score à notre population locale et tenté de présenter une liste de vérification aux médecins ruraux pour accélérer les demandes de consultation. MÉTHODES: Nous avons analysé les dossiers de patients atteints d'une appendicite avérée pendant la période allant de janvier 2008 à décembre 2012. Les scores d'Alvarado ont été assignés rétrospectivement selon les dossiers d'admission des patients. Nous avons généré un score de probabilité clinique (1­4 = faible, 5­6 = intermédiaire, 7­10 = élevé). RÉSULTATS: Nous avons ainsi étudié 1000 patients (54 % de sexe masculin, âge médian 21 ans). Quarante pour cent présentaient des appendices enflammés non perforés et 60 % des appendices perforés. Les scores d'Alvarado se situaient à 1­4 chez 20,9 %, à 5­6 chez 35,7 % et à 7­10 chez 43,4 %, correspondant à une probabilité clinique faible, intermédiaire et élevée, respectivement. Dans notre analyse de sous-groupes sur 510 patients indemnes de péritonite généralisée, les scores d'Alvarado se situaient à 1­4 chez 5,5 %, à 5­6 chez 18,1 % et à 7­10 chez 76,4 %, correspondant à une probabilité clinique faible, intermédiaire et élevée, respectivement. CONCLUSION: L'utilisation répandue du score d'Alvarado a ses mérites, mais son applicabilité dans la population noire d'Afrique du Sud est indéterminée, la maladie risquant de passer inaperçue chez une proportion significative de patients. Il faudra procéder à une validation prospective plus approfondie du score d'Alvarado et le modifier peut-être si l'on veut en accroître la pertinence dans notre contexte.

Two trisomy 22 live births in one hospital in 15 months: is it as rare as we thought?

We report two cases of complete non-mosaic trisomy 22 who were born within 15 months of each other in KwaZulu Natal, South Africa. In an effort to consolidate diagnostic criteria to suspect trisomy 22 prior to chromosomal testing, we compare the clinical features of these infants with those of 23 other trisomy 22 live borns presented in the literature. We further compare the clinical phenotype of trisomy 22 with those of trisomies 13 and 18 to delineate a clinical picture to presume possible trisomy 22 soon after birth. Dysmorphic features which distinguish trisomy 22 from trisomy 13 and 18 include hypertelorism, long philtrum, long and thin upper lip, webbing of the neck, low set, wide spread nipples and an abnormal anus. Given the poor prognosis of this disorder and early mortality of most confirmed cases, non-aggressive versus aggressive treatment measures should be weighed up as soon after birth as possible.

Injuries sustained by passengers travelling in the cargo area of light delivery vehicles.

INTRODUCTION: Despite its inherently dangerous nature, the practice of transporting passengers in the cargo area of light delivery vehicles (LDVs) is widespread in South Africa. OBJECTIVE: To review the patterns and outcome of injuries associated with events involving LDVs transporting passengers. METHODS: All patients presenting to the Pietermaritzburg Metropolitan Trauma Service in KwaZulu-Natal Province following an event in which they had been travelling in the cargo area of an LDV between January 2011 and December 2012 were included in the audit. RESULTS: A total of 66 patients were treated during the study period; 35% were children under the age of 18, and 90% were ejected from the LDV during the incident. The mean injury severity score (ISS) was 23. Collision events were associated with a higher mean ISS (33) than non-collision events (15) (p=0.008). The region most commonly injured was the head and neck, and 11% of victims sustained a permanent disability. The patients collectively spent 873 days in hospital and 70 days in an intensive care unit, and underwent 17 operations. CONCLUSION: Transporting passengers in the cargo area of an LDV is dangerous, as ejection from the vehicle resulting from a collision is associated with significant morbidity and mortality. Legislative initiatives to prevent this practice are required as part of an ongoing comprehensive injury prevention programme.

The landscape of paediatric hydrocephalus in the Province of KwaZulu-Natal. A comparative analysis of the referral pattern, aetiology and management outcomes over four distinct five-year periods.

BACKGROUND: Paediatric hydrocephalus causes significant health burden globally, particularly in low and middle-income countries. There's a dearth of data from specific regions such as KwaZulu-Natal, South Africa. This study aimed to investigate the landscape of paediatric hydrocephalus, comparing four distinct five-year periods. METHODS: Data were collected retrospectively (2003 to 2007, 2008 to 2012, and 2013 to 2017) and prospectively (2018 to 2022). Children (≤18 years) treated for hydrocephalus were included. Data on demographics, referral patterns, aetiology, treatment modalities, and outcomes were collected and analyzed. RESULTS: A total of 3325 children were treated. The peak period was 2008 to 2012 (35.3%). Majority (51.4%) were from rural areas (p=0.013) and 47.9% were referred from regional hospitals, p=<0.001. Males (56.4%) and infants (60.2%) were predominant groups (p<0.001). Post-infectious aetiology (32.7%) was predominant (p<0.001), particularly tuberculous meningitis (54.1%). Ventriculoperitoneal shunts (VPSs) were the mainstay treatment (84.2%), with notable complication rates (20.4%), including infections (9.6%). HIV co-infection was diagnosed in 2.5% of cases. Weekend procedures were associated with VPS complications (HR1.3, CI:1.03-1.66, p=0.03). The mortality rate was 7.9%, and age ≥1 year (HR, 2.43 CI: 1.87-3.17, p<0.001), tertiary hospital referral (HR 1.48, CI: 1.06-2.04, p=0.019), VPS infection (HR, 3.63 CI: 2.66-4.95, p<0.001), acute abdomen (HR 2.17, CI: 1.11-4.25, p=0.024) and pneumonia (HR 7.32, OR 4.84 -11.06, p<0.001) were associated with mortality. CONCLUSION: This study provides comprehensive insights into pediatric hydrocephalus in KZN. Monitoring temporal trends and predictors of outcomes will aid guide future interventions aimed at mitigating the burden of pediatric hydrocephalus in the region.

Diagnostic Differentiation between Pancreatitis and Pancreatic Cancer: A Scoping Review.

Pancreatitis, encompassing acute and chronic forms, and pancreatic cancer pose significant challenges to the exocrine tissue of the pancreas. Recurrence rates and complications following acute pancreatitis episodes can lead to long-term risks, including diabetes mellitus. Chronic pancreatitis can develop in approximately 15% of cases, regardless of the initial episode's severity. Alcohol-induced pancreatitis, idiopathic causes, cigarette smoking, and hereditary pancreatitis contribute to the progression to chronic pancreatitis. Chronic pancreatitis is associated with an increased risk of pancreatic cancer, with older age at onset and smoking identified as risk factors. This scoping review aims to synthesise recent publications (2017-2022) on the diagnostic differentiation between pancreatitis and pancreatic cancer while identifying knowledge gaps in the field. The review focuses on biomarkers and imaging techniques in individuals with pancreatitis and pancreatic cancer. Promising biomarkers such as faecal elastase-1 and specific chemokines offer non-invasive ways to assess pancreatic insufficiency and detect early biomarkers for chronic pancreatitis. Imaging techniques, including computed tomography (CT), magnetic resonance imaging (MRI), endoscopic ultrasound (EUS), and positron emission tomography (PET), aid in differentiating between chronic pancreatitis and pancreatic cancer. However, accurately distinguishing between the two conditions remains a challenge, particularly when a mass is present in the head of the pancreas. Several knowledge gaps persist despite advancements in understanding the association between pancreatitis and pancreatic cancer, including the correlation between histopathological grading systems, non-invasive imaging techniques, and biomarkers in chronic pancreatitis to determine the risk of progression to pancreatic cancer, as well as differentiating between the two conditions. Further research is necessary to enhance our understanding of these aspects, which can ultimately improve the diagnosis and management of pancreatitis and pancreatic cancer.

The impact, perceptions and needs of parents of children with epidermolysis bullosa.

BACKGROUND:  Epidermolysis bullosa (EB) is a rare, incurable genodermatosis that presents with blistering and skin fragility. Complications can be localised or generalised, limited to the skin or have systemic effects resulting in death. Caring for a child with this painful condition can have a profound effect on the quality of life of parents and the family. There is currently no published research on the lived experience of parents caring for a child with EB in a resource-limited environment in Africa. METHOD:  This qualitative research used interpretative phenomenological analysis with the aim of understanding the lived experiences of parents caring for children with EB. Semi-structured interviews were conducted with 13 participants between May 2022 and October 2023. Guba's framework of trustworthiness was used to ensure rigour. RESULTS:  Seven experiential themes with associated sub-themes were identified. The themes were (1) grappling with understanding EB, (2) the psychological experience, (3) living with the responsibility, (4) barriers to feeling supported, (5) changing relational dynamics, (6) experience of healthcare professionals and (7) parental needs. CONCLUSION:  Parents caring for children with EB face emotional, physical, psychosocial and financial challenges. Addressing parents' needs and concerns will go a long way in decreasing this burden. A biopsychosocial approach with an awareness of cultural context is essential for family-centred holistic EB care.Contribution: This is the first study in Africa that focussed on the lived experiences of parents caring for a child with EB.