Exploring the clinical profiles and management of juvenile dermatomyositis in Africa: a survey of African rheumatology care providers.

Background: There are limited studies of juvenile dermatomyositis (JDM) in low and middle-income countries (LMIC). Many demonstrate delays to care, high prevalence of severe manifestations, and high mortality. Given the disease-associated damage with JDM, understanding JDM in Africa further is critical.

Evidence-Based Surgical Guidelines for Treating Children With Rhabdomyosarcoma.

Background: Surgery remains the cornerstone of treatment for rhabdomyosarcoma (RMS) in children. However, there is considerable variation in surgical management practices worldwide, highlighting the need for standardized Clinical Practice Guidelines (CPG).

Methods: The CPG development involved assembling a multidisciplinary group, prioritizing 10 key topic areas, conducting evidence searches, and synthesizing findings.

Where is Batho Pele? The perspective of child and adolescent mental health service users in the Western Cape Province of South Africa.

Background: Mental health disorders of children and adolescents represent a key area of concern, yet child and adolescent mental health services (CAMHS) are neglected, especially in low- and middle-income countries. There is a clear need to provide services that are relevant to the needs of service users, but little research to date has explored their needs and experiences of services, or to identify their recommendations for service strengthening. In 1997 the South African Government introduced the "Batho Pele" ('People First') initiative in all public sector services, with the aim of putting the voices of service users at the centre of decision-making of policy development and implementation.

The Role of Sex and Gender in Acute Kidney Injury - Consensus Statements from the 33 Acute Disease Quality Initiative.

Sex differences exist in acute kidney injury (AKI), and the role that sex and gender play along the AKI care continuum remains unclear. The 33 Acute Disease Quality Initiative meeting evaluated available data on the role of sex and gender in AKI and identified knowledge gaps. Data from experimental models, pathophysiology, epidemiology, clinical care, gender, social determinants of health, education, and advocacy were reviewed.

A Retrospective Review of Children Admitted With Acute Severe Asthma to the Paediatric Intensive Care Unit, Red Cross War Memorial Children's Hospital Between 2009 and 2019.

Aim: There is limited data on the PICU outcomes of children with acute severe asthma (ASA) in South Africa. This study aims to describe the profiles and treatment of all children admitted to our PICU with ASA.

Methods: A retrospective audit of all children admitted with ASA to the PICU at Red Cross War Memorial Children's Hospital between 01 January 2009 and 31 December 2019.

Innovation of a Neonatal Peritoneal Dialysis Catheter to Expand Dialysis Capabilities for Critically Ill Neonates in Low-Resource Settings.

Introduction: The lack of peritoneal dialysis (PD) catheters designed explicitly for neonates creates significant challenges in the provision of neonatal PD. High resource settings can circumvent this limitation by resorting to alternative extracorporeal dialysis methods. However, in low-resource settings, PD remains the preferred dialysis modality, and the use of off-label catheters for PD results in complications such as omental wrapping and occlusion.

Efficacy, Safety, and Immunogenicity of the MATISSE (Maternal Immunization Study for Safety and Efficacy) Maternal Respiratory Syncytial Virus Prefusion F Protein Vaccine Trial.

Objective: To evaluate descriptive efficacy data, exploratory immunogenicity data, and safety follow-up through study completion from the global, phase 3 MATISSE (Maternal Immunization Study for Safety and Efficacy) maternal vaccination trial of bivalent respiratory syncytial virus (RSV) prefusion F protein vaccine (RSVpreF).

Methods: MATISSE was a phase 3, randomized, double-blinded, placebo-controlled trial. Healthy pregnant participants aged 49 years or younger at 24-36 weeks of gestation were randomized (1:1) to receive a single RSVpreF 120 micrograms or placebo dose.

Preterm Birth Frequency and Associated Outcomes From the MATISSE (Maternal Immunization Study for Safety and Efficacy) Maternal Trial of the Bivalent Respiratory Syncytial Virus Prefusion F Protein Vaccine.

Objective: To describe preterm birth frequency and newborn and infant outcomes overall and among preterm children in the MATISSE (Maternal Immunization Study for Safety and Efficacy) trial of maternal vaccination with bivalent respiratory syncytial virus (RSV) prefusion F protein-based vaccine (RSVpreF) to protect infants against severe RSV-associated illness.

Methods: MATISSE was a global, phase 3, randomized, double-blind trial. Pregnant individuals received single injections of RSVpreF or placebo.

High incidence of tuberculosis in young children living with HIV in the Western Cape, South Africa.

Background: Data on tuberculosis (TB) incidence and risk factors among children living with HIV (CLHIV) in the universal ART era are limited.

Methods: We analysed routinely-collected data on TB diagnoses for CLHIV age ≤5 years, born 2018-2022, in the Westen Cape, South Africa. We examined factors associated with TB diagnosis, with death and loss to follow-up as competing events.

IPNA clinical practice recommendations on care of pediatric patients with pre-existing kidney disease during seasonal outbreak of COVID-19.

The coronavirus disease 2019 (COVID-19) pandemic, instigated by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has profoundly impacted healthcare infrastructures around the globe. While children are usually asymptomatic or have mild symptoms, children with pre-existing kidney conditions require specialized attention. This pivotal report, championed by the International Pediatric Nephrology Association (IPNA), delivers precise and actionable recommendations tailored for pediatric patients with kidney ailments in this pandemic landscape.

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.

E3 ubiquitin ligases have been linked to developmental diseases including autism, Angelman syndrome (UBE3A), and Johanson-Blizzard syndrome (JBS) (UBR1). Here, we report variants in the E3 ligase UBR5 in 29 individuals presenting with a neurodevelopmental syndrome that includes developmental delay, autism, intellectual disability, epilepsy, movement disorders, and/or genital anomalies. Their phenotype is distinct from JBS due to the absence of exocrine pancreatic insufficiency and the presence of autism, epilepsy, and, in some probands, a movement disorder.

Genetic counseling development and milestone in Oman.

Genetic counseling as an emerging profession has seen an expansion around the world. In the Sultanate of Oman, the profession has developed with the establishment of clinical and biochemical genetic services in 2010 and genetic counseling services in 2011. Currently, 3 main genetic counseling teams serve the country through qualified genetic counselors who completed internationally recognized MSc program.

Diagnosing cystic fibrosis in low- and middle-income countries: challenges and strategies.

Background: Cystic Fibrosis is caused by recessively inherited variants of the cystic fibrosis transmembrane regulator. It is associated with diverse clinical presentations that can affect the respiratory, digestive, and reproductive systems and inhibit nutrient absorption and growth.

Main Body: The current estimation of people affected by Cystic Fibrosis is likely underestimated as this disease remains undiagnosed in countries with limited diagnostic capacity.

Undernutrition in Cleft Palate Surgery: Effects on Postoperative Fistula Formation in a Tertiary Children's Hospital in Southern Africa.

Background: Cleft palate surgery can be complicated by fistula development. It is well known that undernutrition in general leads to more postoperative complications. However, little is known about postoperative fistula development after cleft palate surgery in low- and middle-income countries (LMIC's).

Epilepsy surgery education and practice around the globe: An ILAE taskforce report.

Up to 80% of the world's population with epilepsy lives in low and middle-income countries. Around one-third of these patients will have drug-resistant epilepsy, for which epilepsy surgery is an option. Unfortunately, many of these regions, as well as some more developed nations, lack sufficient epilepsy surgery units and trained neurosurgeons.

ImpENSA eHealthy Conversation Skills training for healthcare professionals aimed at improving micronutrient status during the first 1000 days in South Africa.

Individuals' lifestyle behaviours determine health. Improving Early Nutrition and Health in South Africa ("ImpENSA"), an EU Erasmus+ co-funded project, aims to tackle the triple burden of malnutrition in South Africa through equipping healthcare professionals (HCPs) with knowledge and skills to effectively support healthy nutritional choices among pregnant women and mothers/infant caregivers. Healthy Conversation Skills (HCS) is a behaviour change intervention utilising open discovery questions, active listening, reflection on practice and goal-setting support through SMARTER (Specific, Measured, Action-oriented, Realistic, Timed, Evaluated and Reviewed) planning as core competences.

How mathematical modelling can inform outbreak response vaccination.

Mathematical models are established tools to assist in outbreak response. They help characterise complex patterns in disease spread, simulate control options to assist public health authorities in decision-making, and longer-term operational and financial planning. In the context of vaccine-preventable diseases (VPDs), vaccines are one of the most-cost effective outbreak response interventions, with the potential to avert significant morbidity and mortality through timely delivery.

Fellowship education in epilepsy in Latin America and Africa: Results of a survey.

A large proportion of those affected by epilepsy live in resource-poor areas. The Epilepsy surgery in low-resource settings Task Force from the ILAE undertook a survey in Africa and Latin America to identify fellowships in Epilepsy and EEG as well as in Epilepsy Surgery. The results revealed a significant shortage of training programs in these two regions of the globe.

Basic and preclinical epilepsy research Scientists' perception of clinical epileptology.

The interaction between basic science epilepsy researchers and clinical epileptologists is a longstanding issue. Efforts to provide opportunities for a dialogue between preclinical and clinical epilepsy professionals are crucial to reduce the knowledge gap between them and improve the translational success of neurobiology-based research. The International League Against Epilepsy (ILAE) Research and Innovation Task Force circulated a survey to investigate the need for an update on new clinical epilepsy concepts within the basic science community.

Technical variability across the 450K, EPICv1, and EPICv2 DNA methylation arrays: lessons learned for clinical and longitudinal studies.

DNA methylation (DNAm) is the most commonly measured epigenetic mechanism in human populations, with most studies using Illumina arrays to assess DNAm levels. In 2023, Illumina updated their DNAm arrays to the EPIC version 2 (EPICv2), building on prior iterations, namely the EPIC version 1 (EPICv1) and 450K arrays. Whether DNAm measurements are stable across these three generations of arrays has yet not been investigated, limiting the ability of researchers-especially those with longitudinal data-to compare and replicate results across arrays.

Pediatric to Adult Transition in Solid Organ Transplant Recipients: A Systematic Review of Existing Transition Programs.

Background: Pediatric organ transplantation is the primary treatment for end-organ failure. Improving medication adherence and healthcare compliance can decrease healthcare burdens, graft rejection, morbidity, and mortality. Adolescents commonly struggle with non-adherence, necessitating a smooth transition to adult care.

Innovative diagnostic technologies: navigating regulatory frameworks through advances, challenges, and future prospects.

Diagnostic tools are key to guiding patient management and informing public health policies to control infectious diseases. However, many diseases still do not have effective diagnostics and much of the global population faces restricted access to reliable, affordable testing. This limitation underscores the urgent need for innovation to enhance diagnostic availability and effectiveness.