A WFS1 variant disrupting acceptor splice site uncovers the impact of alternative splicing on beta cell apoptosis in a patient with Wolfram syndrome.

Aims/hypothesis: Wolfram syndrome 1 (WS1) is an inherited condition mainly manifesting in childhood-onset diabetes mellitus and progressive optic nerve atrophy. The causative gene, WFS1, encodes wolframin, a master regulator of several cellular responses, and the gene's mutations associate with clinical variability. Indeed, nonsense/frameshift variants correlate with more severe symptoms than missense/in-frame variants.

Nursing and midwifery simulation training with a newly developed low-cost high-fidelity placenta simulator: a collaboration between Italy and Ethiopia.

Background: Simulation training provides safe environment for skill acquisition and retention. This study addresses a critical challenge in Africa - umbilical cord and placenta management after childbirth - aiming to bridge theoretical learning with practical experiences through simulation. We realized a new low-cost high-fidelity simulator of placenta and umbilical cord.

Caesarean sections, indications and outcomes: a cross-sectional study using the Robson classification in a tertiary hospital in Sierra Leone.

Objective: WHO recommends the use of the Robson's 'Ten Groups Classification' for monitoring and assessing caesarean section (CS) rates. The aim of this study was to investigate the rates, indications and outcomes of CS using Robson classification in a tertiary hospital in Sierra Leone.

Design: Cross-sectional study.

Cardiac Tuberculosis: A Case Series from Ethiopia, Italy, and Uganda and a Literature Review.

Extrapulmonary tuberculosis (TB) is estimated to account for up to 20% of active cases of TB disease, but its prevalence is difficult to ascertain because of the difficulty of diagnosis. Involvement of the heart is uncommon, with constrictive pericarditis being the most common cardiac manifestation. Diagnostic research for cardiac disease is frequently lacking, resulting in a high mortality rate.

Protocol for an evaluation of the initiation of an integrated longitudinal outpatient care model for severe chronic non-communicable diseases (PEN-Plus) at secondary care facilities (district hospitals) in 10 lower-income countries.

Introduction: The Package of Essential Noncommunicable Disease Interventions-Plus (PEN-Plus) is a strategy decentralising care for severe non-communicable diseases (NCDs) including type 1 diabetes, rheumatic heart disease and sickle cell disease, to increase access to care. In the PEN-Plus model, mid-level clinicians in intermediary facilities in low and lower middle income countries are trained to provide integrated care for conditions where services traditionally were only available at tertiary referral facilities. For the upcoming phase of activities, 18 first-level hospitals in 9 countries and 1 state in India were selected for PEN-Plus expansion and will treat a variety of severe NCDs.

Causes of maternal deaths in Sierra Leone from 2016 to 2019: analysis of districts' maternal death surveillance and response data.

Introduction: Sierra Leone is among the top countries with the highest maternal mortality rates. Although progress has been made in reducing maternal mortality, challenges remain, including limited access to skilled care and regional disparities in accessing quality care. This paper presents the first comprehensive analysis of the burden of different causes of maternal deaths reported in the Maternal Death Surveillance and Response (MDSR) system at the district level from 2016 to 2019.

Active close contact investigation of tuberculosis through computer-aided detection and stool Xpert MTB/RIF among people living in Oromia Region, Ethiopia (CADOOL Study): protocol for a prospective, cross-sectional study.

Introduction: Pulmonary tuberculosis (TB) is an infectious disease with high incidence in low-income countries (LICs); it remains one of the infectious diseases with the highest mortality in the world, especially in LICs. It is crucial to recognise and diagnose TB as soon as possible, but microbiological tests on sputum are not always sensitive enough. New methods for an early diagnosis of TB are needed.

Adherence to WHO guidelines on severe pneumonia management in children and its impact on outcome: an observational study at Jinka General Hospital in Ethiopia.

Introduction: Poor adherence to guidelines during empirical antibiotic prescription in low-income countries could increase antimicrobial resistance without improving outcomes. Revised World Health Organization (WHO) guidelines published in 2014 on childhood (2-59 months) pneumonia re-defined the classification of severe pneumonia and changed the first-line treatment. The adherence to WHO guidelines in southern Ethiopia at the hospital level is unknown.

Stool Xpert MTB/RIF as a possible diagnostic alternative to sputum in Africa: a systematic review and meta-analysis.

Introduction: Worldwide, COVID-19 pandemic lead to a large fall in the number of newly reported TB cases. In sub-Saharan Africa, microbiological diagnosis of TB is generally based on smear microscopy and Xpert MTB/RIF on sputum samples, but good quality sputum samples are often difficult to obtain, leading clinicians to rely on more invasive procedures for diagnosis. Aim of this study was to investigate pooled sensitivity and specificity of Xpert MTB/RIF on stool samples compared to respiratory microbiological reference standards in African countries.

Priority age targets for COVID-19 vaccination in Ethiopia under limited vaccine supply.

The worldwide inequitable access to vaccination claims for a re-assessment of policies that could minimize the COVID-19 burden in low-income countries. Nine months after the launch of the national vaccination program in March 2021, only 3.4% of the Ethiopian population received two doses of COVID-19 vaccine.

Directed self-assembly of a xenogeneic vascularized endocrine pancreas for type 1 diabetes.

Intrahepatic islet transplantation is the standard cell therapy for β cell replacement. However, the shortage of organ donors and an unsatisfactory engraftment limit its application to a selected patients with type 1 diabetes. There is an urgent need to identify alternative strategies based on an unlimited source of insulin producing cells and innovative scaffolds to foster cell interaction and integration to orchestrate physiological endocrine function.

Evaluating Healthcare Performance in Low- and Middle-Income Countries: A Pilot Study on Selected Settings in Ethiopia, Tanzania, and Uganda.

The literature reports some experiences regarding the design of integrated healthcare Performance Evaluation Systems (PES) applied in Low- and Middle-income Countries (LMIC). This study describes the design of an integrated and bottom-up PES aimed at evaluating healthcare services delivery in rural settings. The analysis involved four hospitals and their relative health districts in Ethiopia, Tanzania, and Uganda.

Epidemiological factors affecting outpatient department service utilization and hospitalization in patients with diabetes: A time-series analysis from an Ethiopian hospital between 2018 and 2021.

Background: The burden of diabetes-related deaths reached two million in 2019 globally. Accessibility to health care services and adherence to follow-up and therapy are key to improving outcomes for diabetic patients. We aimed to assess outpatient department (OPD) service utilization and diabetes-related hospitalizations over a period of 44 months.

Engineering of immune checkpoints B7-H3 and CD155 enhances immune compatibility of MHC-I iPSCs for β cell replacement.

Induced pluripotent stem cells (iPSCs) represent a source from which β cells can be derived for diabetes replacement therapy. However, their application may be hindered by immune-mediated responses. Although abrogation of major histocompatibility complex class I (MHC-I) can address this issue, it may trigger natural killer (NK) cells through missing-self recognition mechanisms.

Treating iPSC-Derived β Cells with an Anti-CD30 Antibody-Drug Conjugate Eliminates the Risk of Teratoma Development upon Transplantation.

Insulin-producing cells derived from induced pluripotent stem cells (iPSCs) are promising candidates for β cell replacement in type 1 diabetes. However, the risk of teratoma formation due to residual undifferentiated iPSCs contaminating the differentiated cells is still a critical concern for clinical application. Here, we hypothesized that pretreatment of iPSC-derived insulin-producing cells with an anti-CD30 antibody−drug conjugate could prevent in vivo teratoma formation by selectively killing residual undifferentiated cells.

Training on the Silverman and Andersen score improved how special care unit nurses assessed neonatal respiratory distress in a low-resource setting.

Aim: Identifying the severity of neonatal respiratory distress (RD) is essential, so that resources can be appropriately allocated. We assessed the ability of nurses to grade neonatal RD in a low-resource setting before and after they were trained to use a dedicated scoring tool.

Methods: The study was conducted in the Special Care Unit of St Luke Wolisso Hospital, Ethiopia.

An integrated hospital-district performance evaluation for communicable diseases in low-and middle-income countries: Evidence from a pilot in three sub-Saharan countries.

Introduction: The last two decades saw an extensive effort to design, develop and implement integrated and multidimensional healthcare evaluation systems in high-income countries. However, in low- and middle-income countries, few experiences of such systems implementation have been reported in the scientific literature. We developed and piloted an innovative evaluation tool to assess the performance of health services provision for communicable diseases in three sub-Saharan African countries.

"This Is Not Our Disease": A Qualitative Study of Influencers of COVID-19 Preventive Behaviours in Nguenyyiel Refugee Camp (Gambella, Ethiopia).

The COVID-19 pandemic has infected more than 263 million people and claimed the lives of over 5 million people worldwide. Refugees living in camp settings are particularly vulnerable to infection because of the difficulty implementing preventive measures and lack of medical resources. However, very little is known about the factors that influence the behavioural response of refugees towards COVID-19.

COVID-19 in Solid Organ Transplant Recipient: Exploring Cumulative Incidence, Seroprevalence and Risk Factors for Disease Severity.

Background: Solid organ transplant (SOT) recipients may be at increased risk for severe disease and mortality from COVID-19 because of immunosuppression and prolonged end-stage organ disease. As a transplant center serving a diverse patient population, we report the cumulative incidence and outcomes of SARS-CoV-2 infection in our cohort of SOT recipients.

Methods: We prospectively included in this observational study SOT recipients with a functioning kidney ( = 201), pancreas ± kidney ( = 66) or islet transplant ( = 24), attending outpatient regular follow-up at the San Raffaele Hospital from February 2020 to April 2021.

Parents' Experience and Satisfaction in Neonatal Intensive Care Units in Ethiopia: A Multicenter Cross-Sectional Study Using an Adapted Version of EMPATHIC-N.

In neonatal intensive care units (NICU) setting, parents' experience and satisfaction permit to evaluate clinical practice and improve the care of infants and parents. Little is known about this topic in low resource settings. The aim of this study was to (1) translate, adapt and validate the EMpowerment of PArents in THe Intensive Care-Neonatology (EMPHATIC-N) questionnaire in two languages in Ethiopia (2) explore parents' satisfaction with the care received in the NICUs in three hospitals; and, (3) explore socio-demographic characteristics and level of the NICU influence on the EMPATHIC-N domains.

The effectiveness of maternity waiting homes in reducing perinatal mortality: a case-control study in Ethiopia.

Background: The 2030 Agenda for Sustainable Development aims to reduce neonatal mortality to at least 12 per 1000 live births. Most of the causes can be prevented or cured. Access to quality healthcare during pregnancy and labour is the key to reduce perinatal deaths, and maternity waiting homes (MWHs) may have an impact, especially for women who live far from the healthcare system.

Modeling the interplay between demography, social contact patterns, and SARS-CoV-2 transmission in the South West Shewa Zone of Oromia Region, Ethiopia.

Background: COVID-19 spread may have a dramatic impact in countries with vulnerable economies and limited availability of, and access to, healthcare resources and infrastructures. However, in sub-Saharan Africa, a low prevalence and mortality have been observed so far.

Methods: We collected data on individuals' social contacts in the South West Shewa Zone (SWSZ) of Ethiopia across geographical contexts characterized by heterogeneous population density, work and travel opportunities, and access to primary care.

Effectiveness of screening and treatment of children with severe acute malnutrition by community health workers in Simiyu region, Tanzania: a quasi-experimental pilot study.

Health system constraints hamper treatment of children with severe acute malnutrition (SAM) in Tanzania. This non-inferiority quasi-experimental study in Bariadi (intervention) and Maswa (control) districts assessed the effectiveness, coverage, and cost-effectiveness of SAM treatment by community health workers (CHWs) compared with outpatient therapeutic care (OTC). We included 154 and 210 children aged 6-59 months with SAM [mid-upper arm circumference (MUAC) < 11.

Generation of β Cells from iPSC of a MODY8 Patient with a Novel Mutation in the Carboxyl Ester Lipase (CEL) Gene.

Context: Maturity-onset diabetes of the young (MODY) 8 is a rare form of monogenic diabetes characterized by a mutation in CEL (carboxyl ester lipase) gene, which leads to exocrine pancreas dysfunction, followed by β cell failure. Induced pluripotent stem cells can differentiate into functional β cells. Thus, β cells from MODY8 patients can be generated in vitro and used for disease modelling and cell replacement therapy.