Adherence to Wearing Therapeutic Footwear Among People at High-Risk of Diabetes-Related Foot Ulcers in Jordan.

This study aimed to investigate the levels of adherence to wearing therapeutic footwear, and the factors associated, among people at high-risk of diabetes-related foot ulcers (DFUs) in Jordan. This was a secondary analysis of data from a multi-centre cross-sectional study of participants at high-risk of DFU in Jordan who had therapeutic footwear. Participants had socio-demographic, health, limb, and psychosocial variables collected, plus self-reported their proportion of adherence time wearing therapeutic footwear on an average day (excluding sleeping time) using a visual analogue scale.

Ethnic variations in traumatic injury hospitalisations in a health region of Aotearoa New Zealand-10-year review.

Aim: To examine the ethnic variations in trauma hospitalisations in a health region of Aotearoa New Zealand over a 10-year period.

Methods: A retrospective, observational study utilised data from the Te Manawa Taki (TMT) regional trauma registry to identify individuals of all ages and injury severities who were hospitalised due to injuries between 2013 and 2022. This investigation focusses on the epidemiology of trauma, examining factors such as ethnicity, gender, Injury Severity Score (ISS) and injury characteristics.

Self-efficacy, Knowledge and Outcomes Expectations Foot Self-care among Diabetic Patients with High-Risk Feet in Jordan.

Background: Patients with high-risk feet and diabetes are prone to develop diabetes-related foot ulcers (DFUs). To prevent DFUs and their costs and impacts on diabetes mellitus (DM) patients' productivity and quality of life, patients' foot self-care (FSC) practices are essential to screen for DFUs. Our study aimed to assess the self-efficacy and outcome expectations about FSC and evaluate the knowledge about DFUs among patients with DM in Jordan.

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.

Purpose: The Clinical Genome Resource (ClinGen) Gene Curation Expert Panels (GCEPs) have historically focused on specific organ systems or phenotypes; thus, the ClinGen Syndromic Disorders GCEP (SD-GCEP) was formed to address an unmet need.

Methods: The SD-GCEP applied ClinGen's framework to evaluate the clinical validity of genes associated with rare syndromic disorders. 111 Gene-Disease Relationships (GDRs) associated with 100 genes spanning the clinical spectrum of syndromic disorders were curated.

Exploring the Cognitive and Behavioral Aspects of Shprintzen-Goldberg Syndrome; a Novel Cohort and Literature Review.

Shprintzen-Goldberg-syndrome (SGS) is caused by pathogenic exon 1 variants of SKI. Symptoms include dysmorphic features, skeletal and cardiovascular comorbidities, and cognitive and developmental impairments. We delineated the neurodevelopmental and behavioral features of SGS, as they are not well-documented.

Sabelo's Journey as a Young Black Gay Man in South Africa and the Potential of the Grindr App.

Drawing from a case-study, this paper examines 18-year-old Sabelo's journey as a young black gay man in South Africa. Against the backdrop of heteronormativity and entrenched gender roles, Sabelo navigates a landscape where expressions of queer sexuality are often met with resistance. Focusing on a semi-structured interview, Sabelo's narrative reveals the pressure to conform to traditional masculinity and a sense of living a "double life" where acceptance is tied to economic success.

Safety and Efficacy of Staged, Bilateral Focused Ultrasound Thalamotomy in Essential Tremor: An Open-Label Clinical Trial.

Importance: Unilateral magnetic resonance-guided focused ultrasound ablation of ventralis intermedius nucleus of the thalamus for essential tremor reduces tremor on 1 side, but untreated contralateral or midline symptoms remain limiting for some patients. Historically, bilateral lesioning produced unacceptable risks and was supplanted by deep brain stimulation; increasing acceptance of unilateral focused ultrasound lesioning has led to interest in a bilateral option.

Objective: To evaluate the safety and efficacy of staged, bilateral focused ultrasound thalamotomy.

Do we really need financial literacy to access the behavioral dynamics of generation Z? A case of Oman.

The ability to manage money has been identified as a vital talent. In this context, financial literacy has a role to play. There are significant gaps, though, such as the financial connection to human behavior.

Next-generation phenotyping in Nigerian children with Cornelia de Lange syndrome.

Next-generation phenotyping (NGP) can be used to compute the similarity of dysmorphic patients to known syndromic diseases. So far, the technology has been evaluated in variant prioritization and classification, providing evidence for pathogenicity if the phenotype matched with other patients with a confirmed molecular diagnosis. In a Nigerian cohort of individuals with facial dysmorphism, we used the NGP tool GestaltMatcher to screen portraits prior to genetic testing and subjected individuals with high similarity scores to exome sequencing (ES).

Utility of next generation sequencing in paediatric neurological disorders: experience from South Africa.

Next generation sequencing (NGS)-based tests have become routine first-line investigative modalities in paediatric neurology clinics in many high-income countries (HICs). Studies from these countries show that these tests are both cost-effective and reliable in diagnosing many complex childhood neurological diseases. However, NGS-based testing in low-and middle-income countries (LMICs) is limited due to affordability constraints.

The views of family physicians on National Health Insurance in Gauteng Province, South Africa.

Background: Universal health coverage (UHC) improves national health outcomes while addressing social inequalities in access to quality healthcare services. The district health system (DHS) is critical to the success of UHC in South Africa through the National Health Insurance (NHI) scheme. Family physicians (FPs), as champions of primary care, are central to the DHS operation and implementation of NHI.

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.

Bilateral focused ultrasound medial thalamotomies for trigeminal neuropathic pain: a randomized controlled study.

Objective: Medial thalamotomy has been shown to benefit patients with neuropathic pain, but widespread adoption of this procedure has been limited by reporting of clinical outcomes in studies without a control group. This study aimed to minimize confounders associated with medial thalamotomy for treating chronic pain by using modern MRI-guided stereotactic lesioning and a rigorous clinical design.

Methods: This prospective, double-blinded, randomized controlled trial in 10 patients with trigeminal neuropathic pain used sham procedures as controls.

Genetic basis of osteogenesis imperfecta from a single tertiary centre in South Africa.

Osteogenesis imperfecta (OI) is a clinically heterogeneous disorder characterised by skeletal fragility and an increased fracture incidence. It occurs in approximately one in every 15-20,000 births and is known to vary considerably in its severity. This report aimed to use next-generation sequencing (NGS) technology to identify disease genes and causal variants in South African patients with clinical-radiological features of OI.

Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13.

Spondyloepimetaphyseal dysplasia with severe short stature, RPL13-related (SEMD-RPL13), MIM#618728), is a rare autosomal dominant disorder characterized by short stature and skeletal changes such as mild spondylar and epimetaphyseal dysplasia affecting primarily the lower limbs. The genetic cause was first reported in 2019 by Le Caignec et al., and six disease-causing variants in the gene coding for a ribosomal protein, RPL13 (NM_000977.

Do Concomitant Systematic Biopsies Add to Fusion Targeted Biopsies in the Diagnosis and Management of Clinically Significant Prostate Cancer?

Objective: Magnetic resonance imaging targeted biopsy clearly detects more clinically significant prostate cancer than systematic biopsy. Whether concomitant systematic biopsy adds to targeted biopsy in the detection of clinically significant prostate cancer remains uncertain. The primary outcome measure of this study was to ascertain the percentage of clinically significant prostate cancer on systematic biopsy missed by targeted biopsy.

The IFITM5 Ser40Leu variant can manifest as prenatal Caffey disease.

We report on a female neonate with a clinico-radiological presentation in keeping with a lethal form of prenatal Caffey disease (PCH). She had antenatal and postnatal features of severely bowed long bones, small chest, diaphyseal hyperostosis and polyhydramnios and died shortly after birth. Initial testing excluded COL1A1-related PCH, as an OI gene panel, consisting of COL1A1, COL1A2, CRTAP, and P3H1 genes, was negative.

Exploring the Challenges for Universal Health Coverage: A Call to Africa by AfroPHC.

The primary health care (PHC) system in Africa faces many challenges AND opportunities. To date, human resources for health in PHC are grossly insufficient in number, often inefficiently and inequitably distributed, lacking adequate training for delivering fully responsive and comprehensive frontline care and are treated inequitably within the health system. There has been a lack of solidarity among key role players in healthcare to create adequate PHC funding in Africa.