Revising the essential package of health services through stakeholder alignment, Somalia.

Problem: The fragmented health sector in Somalia, burdened by financial challenges and an inadequate regulatory system, struggles to provide equitable essential health services to the entire population. Approach: To revise an essential package of health services that stakeholders could support and that aligned with stakeholders' financial and technical resources, the federal health ministry invited all key stakeholders in 2020 to participate in the revision process of the essential package. The ministry distributed a concept note to invited stakeholders, describing the scope and purpose of the revision process of the essential package. The note also contained a timeline and the expected contribution of each stakeholder. Stakeholders nominated representatives based on their technical expertise and knowledge of the health sector in Somalia. Local setting: The health sector in Somalia involves multiple stakeholders, including the health ministry and many development partners. The private sector plays a substantial role in health-care provision. Public spending is an estimated 17% of the total health expenditure. Relevant changes: After an 18-month revision process, the health ministry and development partners agreed to prioritize high-impact, cost-effective services and use a progressive realization of the package to improve access and coverage. The implementation strategy considers the health system and operational capacity of service providers, particularly in security-compromised areas. Lessons learnt: The approach showed that inclusivity, collaboration and transparency were of importance for a successful revision of the package. These achievements in consensus-building and priority alignment advance the government's pursuit of equitable and comprehensive health care for all.

Prevalence and associated factors of acute diarrhea among under-five children living in Hargeisa Internally Displaced Persons, Somaliland: a community-based cross-sectional study.

Introduction: in developing countries, diarrhea is a major cause of child death among those under five years old. Dehydration, malnutrition, delayed physical development and early childhood mortality are the major consequences of diarrheal diseases. In Somaliland, diarrheal diseases have been endemic and a major problem since 1994, with epidemics occurring annually. This study aimed to assess the prevalence and risk factors of acute diarrhea among children under five years old living in Hargeisa Internally Displaced Persons (IDPs), Somaliland. Methods: a community-based cross-sectional study was conducted among mothers of children under five from August to September 2020 in Hargeisa IDPs. A total of 383 mothers were selected using single population proportional formula. Data was entered, cleaned, and analyzed using SPSS version 22. To explore the association between variables, bivariate logistic regression was performed for each independent variable with the dependent variable. Variables with a p-value of < 0.05 were adjusted in multivariate logistic regression. Finally, variables with a p-value < 0.05 were recognized as determinants of acute diarrheal disease. Results: the prevalence of diarrhea among children under five living in Hargeisa IDPs was 51% (95% CI: 46%-56%). Children older than one year (AOR= 3.59, 95% CI: 2.05-5.20), those not exclusively breastfed (AOR= 4.01, 95% CI: 3.27-4.60), those not given colostrum milk (AOR= 36.41, 95% CI: 25.76-47.90), those drinking water stored in jerry-cans (AOR = 4.90, 95% CI: 1.31-8.39), and those with poor hand washing practices (AOR = 5.74, 95% CI: 1.38-7.82) were more likely to develop diarrhea than their counterparts. Conclusion: this study concludes that the prevalence of diarrhea was very high (51%). Lack of awareness of exclusive breastfeeding and colostrum feeding, storing drinking water in unprotected containers, and poor hand-washing practices were identified as significant predictors for childhood diarrhea (p-value < 0.05).

Assessment of wind energy resource in the western region of Somaliland.

As the population of Somaliland continues to grow rapidly, the demand for electricity is anticipated to rise exponentially over the next few decades. The provision of reliable and cost-effective electricity service is at the core of the economic and social development of Somaliland. Wind energy might offer a sustainable solution to the exceptionally high electricity prices. In this study, a techno-economic assessment of the wind energy potential in some parts of the western region of Somaliland is performed. Measured data of wind speed and wind direction for three sites around the capital city of Hargeisa are utilized to characterize the resource using Weibull distribution functions. Technical and economic performances of several commercial wind turbines are examined. Out of the three sites, Xumba Weyne stands out as the most favorable site for wind energy harnessing with average annual power and energy densities at 80 m hub height of 317 kW/m2 and 2782 kWh/m2, respectively. Wind turbines installed in Xumba Weyne yielded the lowest levelized cost of electricity (LCOE) of not more than 0.07 $/kWh, shortest payback times (i.e., less than 7.2 years) with minimum return on investment (ROI) of approximately 150%.

Aneuploidy detection in paraffin embedded tissue from products of conception by mini-STR genotyping.

Autosomal trisomy is the most common genetic abnormality observed in pregnancy loss. We designed a panel of mini-short tandem repeats (mini-STRs) for aneuploidy detection in chromosomes 13, 16, 18 and 21 from fresh and formalin fixed, paraffin embedded (FFPE) samples from products of conception (POC). FFPE POCs with trisomy 13 (n = 6), trisomy 18 (n = 6), trisomy 21 (n = 12), 6 euploid for the chromosomes of interest and two trisomy 16 samples from fresh tissue were tested. Concordance between cytogenetics and genotyping was 100% for non-mosaic samples. Mini-STR genotyping is a viable method for targeted aneuploidy detection in low quality DNA samples.

Institutionalisation Is a Vital Element for Fairness of Priority Setting in the Package Design if the Target is Universal Health Coverage Comment on "Evidence-Informed Deliberative Processes for Health Benefits Package Design - Part II: A Practical Guide".

The evidence-informed deliberative processes (EDPs) guide provides a practical framework for fair priority setting of the health benefits package (HBP) that countries can reasonably use. The steps presented in the EDPs are applicable for prioritising health services in designing HBP and are consistent with practical experience in countries. However, institutionalisation must be considered an element of fairness in the priority-setting process if the aim is to reach broader goals of a health system, such as universal health coverage (UHC). Otherwise, the EDPs for priority setting might not be integrated into the formal health system or impactful, resulting in a waste of time and resources, which is unfair. Institutionalisation means formalising the desired change as an embedded and integrated system so that the change lasts over time. For the institutionalisation of EPDs, four stages are suggested, which are (1) establishing a supportive legal framework, (2) designating governance and institutional structure, (3) stipulating the EDPs processes and (4) individual and institutional capacity building.

Accelerating the prevention, control and elimination of communicable diseases through integration and optimization of the support from Gavi and Global Fund: A vision for the Eastern Mediterranean Region.

Over the years, the Eastern Mediterranean Region (EMR) has faced a funding gap with respect to malaria, tuberculosis (TB), HIV, and vaccine-preventable diseases programmes. In the early 2000s, Gavi, the Vaccine Alliance (Gavi) and the Global Fund against AIDS, TB and Malaria (GFATM) became important financial contributors to these programmes. In 2000-2015, funding support from these two global health initiatives allowed progress. However, from 2015, coverage of interventions plateaued, and the region is now behind on the related Sustainable Development Goal (SDG) targets.

Building implementable packages for universal health coverage.

Since no country or health system can provide every possible health service to everyone who might benefit, the prioritisation of a defined subset of services for universal availability is intrinsic to universal health coverage (UHC). Creating a package of priority services for UHC, however, does not in itself benefit a population-packages have impact only through implementation. There are inherent tensions between the way services are formulated to facilitate criteria-driven prioritisation and the formulations that facilitate implementation, and service delivery considerations are rarely well incorporated into package development. Countries face substantial challenges bridging from a list of services in a package to the elements needed to get services to people. The failure to incorporate delivery considerations already at the prioritisation and design stage can result in packages that undermine the goals that countries have for service delivery. Based on a range of country experiences, we discuss specific choices about package structure and content and summarise some ideas on how to build more implementable packages of services for UHC, arguing that well-designed packages can support countries to bridge effectively from intent to implementation.

Country readiness and prerequisites for successful design and transition to implementation of essential packages of health services: experience from six countries.

This paper reviews the experience of six low-income and lower middle-income countries in setting their own essential packages of health services (EPHS), with the purpose of identifying the key requirements for the successful design and transition to implementation of the packages in the context of accelerating progress towards universal health coverage (UHC). The analysis is based on input from three meetings of a knowledge network established by the Disease Control Priorities 3 Country Translation Project and working groups, supplemented by a survey of participating countries.All countries endorsed the Sustainable Development Goals target 3.8 on UHC for achievement by 2030. The assessment of country experiences found that health system strengthening and mobilising and sustaining health financing are major challenges. EPHS implementation is more likely when health system gaps are addressed and when there are realistic and sustainable financing prospects. However, health system assessments were inadequate and the government planning and finance sectors were not consistently engaged in setting the EPHS in most of the countries studied. There was also a need for greater engagement with community and civil society representatives, academia and the private sector in package design. Leadership and reinforcement of technical and managerial capacity are critical in the transition from EPHS design to sustained implementation, as are strong human resources and country ownership of the process. Political commitment beyond the health sector is key, particularly commitment from parliamentarians and policymakers in the planning and finance sectors. National ownership, institutionalisation of technical and managerial capacity and reinforcing human resources are critical for success.The review concludes that four prerequisites are crucial for a successful EPHS: (1) sustained high-level commitment, (2) sustainable financing, (3) health system readiness, and (4) institutionalisation.

Decision-making processes for essential packages of health services: experience from six countries.

Many countries around the world strive for universal health coverage, and an essential packages of health services (EPHS) is a central policy instrument for countries to achieve this. It defines the coverage of services that are made available, as well as the proportion of the costs that are covered from different financial schemes and who can receive these services. This paper reports on the development of an analytical framework on the decision-making process of EPHS revision, and the review of practices of six countries (Afghanistan, Ethiopia, Pakistan, Somalia, Sudan and Zanzibar-Tanzania).The analytical framework distinguishes the practical organisation, fairness and institutionalisation of decision-making processes. The review shows that countries: (1) largely follow a similar practical stepwise process but differ in their implementation of some steps, such as the choice of decision criteria; (2) promote fairness in their EPHS process by involving a range of stakeholders, which in the case of Zanzibar included patients and community members; (3) are transparent in terms of at least some of the steps of their decision-making process and (4) in terms of institutionalisation, express a high degree of political will for ongoing EPHS revision with almost all countries having a designated governing institute for EPHS revision.We advise countries to organise meaningful stakeholder involvement and foster the transparency of the decision-making process, as these are key to fairness in decision-making. We also recommend countries to take steps towards the institutionalisation of their EPHS revision process.

A Comprehensive Triple-Repeat Primed PCR and a Long-Range PCR Agarose-Based Assay for Improved Genotyping of Guanine-Adenine-Adenine Repeats in Friedreich Ataxia.

Friedreich ataxia is a rare autosomal recessive, neuromuscular degenerative disease caused by an expansion of a trinucleotide [guanine-adenine-adenine (GAA)] repeat in intron 1 of the FXN gene. It is common in the White population, characterized by progressive gait and limb ataxia, lack of tendon reflexes in the legs, loss of position sense, and hypertrophic cardiomyopathy. Detection and genotyping of the trinucleotide repeat length is important for the diagnosis and prognosis of the disease. A two-tier genotyping assay with an improved triple-repeat primed PCR (TR-PCR) for alleles <200 GAA repeats (±1 to 5 repeats) and an agarose gel-based, long-range PCR (LR-PCR) assay to genotype expanded alleles >200 GAA repeats (±50 repeats) is described. Of the 1236 DNA samples tested using TR-PCR, 31 were identified to have expanded alleles >200 repeats and were reflexed to the LR-PCR procedure for confirmation and quantification. The TR-PCR assay described herein is a diagnostic genotyping assay that reduces the need for further testing. The LR-PCR component is a confirmatory test for true homozygous and heterozygous samples with normal and expanded alleles, as indicated by the TR-PCR assay. The use of this two-tier method offers a comprehensive evaluation to detect and genotype the smallest and largest number of GAA repeats, improving the classification of FXN alleles as normal, mutable normal, borderline, and expanded alleles.

Strengthening Health Systems in Humanitarian Settings: Multi-Stakeholder Insights on Contraception and Postabortion Care Programs in the Democratic Republic of Congo and Somalia.

Background: In humanitarian settings, strengthening health systems while responding to the health needs of crisis-affected populations is challenging and marked with evidence gaps. Drawing from a decade of family planning and postabortion care programming in humanitarian settings, this paper aims to identify strategic components that contribute to health system strengthening in such contexts. Materials and Methods: A diverse range of key informants from North Kivu (Democratic Republic of Congo, DRC) and Puntland (Somalia), including female and male community members, adolescents and adults, healthcare providers, government and community leaders, participated in qualitative interviews, which applied the World Health Organization health system building blocks framework. Data were thematically analyzed according to this framework. Results: Findings from the focus group discussions (11 in DRC, 7 in Somalia) and key informant interviews (seven in DRC, four in Somalia) involving in total 54 female and 72 male participants across both countries indicate that health programs in humanitarian settings, such as Save the Children's initiative on family planning and postabortion care, could contribute to strengthening health systems by positively influencing national policies and guidance, strengthening local coordination mechanisms, capacitating the healthcare workforce with competency-based training and supportive supervision (benefiting facilities supported by the project and beyond), developing the capacity of Ministry of Health staff in the effective management of the supply chain, actively and creatively mobilizing the community to raise awareness and create demand, and providing quality and affordable services. Financial sustainability is challenged by the chronically limited healthcare expenditure experienced in both humanitarian contexts. Conclusions: In humanitarian settings, carefully designed healthcare interventions, such as those that address the family planning and postabortion care needs of crisis-affected populations, have the potential not only to increase access to essential services but also contribute to strengthening several components of the health system while increasing the government capacity, ownership, and accountability.

Framework for assessing governance of the health system in developing countries: gateway to good governance.

Governance is thought to be a key determinant of economic growth, social advancement and overall development, as well as for the attainment of the MDGs in low- and middle-income countries. Governance of the health system is the least well-understood aspect of health systems. A framework for assessing health system governance (HSG) at national and sub-national levels is presented, which has been applied in countries of the Eastern Mediterranean. In developing the HSG framework key issues considered included the role of the state vs. the market; role of the ministries of health vs. other state ministries; role of actors in governance; static vs. dynamic health systems; and health reform vs. human rights-based approach to health. Four existing frameworks were considered: World Health Organization's (WHO) domains of stewardship; Pan American Health Organization's (PAHO) essential public health functions; World Bank's six basic aspects of governance; and United Nations Development Programme (UNDP) principles of good governance. The proposed HSG assessment framework includes the following 10 principles-strategic vision, participation and consensus orientation, rule of law, transparency, responsiveness, equity and inclusiveness, effectiveness and efficiency, accountability, intelligence and information, and ethics. The framework permits 'diagnoses of the ills' in HSG at the policy and operational levels and points to interventions for its improvement. In the case of Pakistan, where the framework was applied, a positive aspect was the growing participation and consensus orientation among stakeholders, while weaknesses were identified in relation to strategic vision, accountability, transparency, effectiveness and efficiency and rule of law. In using the HSG framework it needs to be recognized that the principles are value driven and not normative and are to be seen in the social and political context; and the framework relies on a qualitative approach and does not follow a scoring or ranking system. It does not directly address aid effectiveness but provides insight on the ability to utilize external resources and has the ability to include the effect of global health governance on national HSG as the subject itself gets better crystallized. The improved performance of the ministries of health and state health departments is at the heart of this framework. The framework helps raise the level of awareness among policymakers of the importance of HSG. The road to good governance in health is long and uneven. Assessing HSG is only the first step; the challenge that remains is to carry out effective governance in vastly different institutional contexts.

A new DNA-based test for detection of nucleophosmin exon 12 mutations by capillary electrophoresis.

Mutations in nucleophosmin (NPM1) exon 12 are thought to be the most common genetic event in acute myelogenous leukemia (AML) and to confer favorable clinical prognoses. In this report, we describe a simple molecular test for the detection of NPM1 exon 12 mutations in patients with AML using polymerase chain reaction amplification of genomic DNA followed by the analysis of amplification products by capillary electrophoresis. Mutations were reproducibly detected when present in at least 5% of cells, and all NPM1 exon 12 mutations reported to date in AML could be identified using this method. This method was successfully employed using paraffin-extracted DNA, allowing for the examination of archived clinical specimens, and the assay was validated by the direct sequencing of 33 patient samples. This sensitive test is straightforward to perform and provides important information that can influence both the clinical management and treatment options for many patients with AML.

Consensus characterization of 16 FMR1 reference materials: a consortium study.

Fragile X syndrome, which is caused by expansion of a (CGG)(n) repeat in the FMR1 gene, occurs in approximately 1:3500 males and causes mental retardation/behavioral problems. Smaller (CGG)(n) repeat expansions in FMR1, premutations, are associated with premature ovarian failure and fragile X-associated tremor/ataxia syndrome. An FMR1-sizing assay is technically challenging because of high GC content of the (CGG)(n) repeat, the size limitations of conventional PCR, and a lack of reference materials available for test development/validation and routine quality control. The Centers for Disease Control and Prevention and the Association for Molecular Pathology, together with the genetic testing community, have addressed the need for characterized fragile X mutation reference materials by developing characterized DNA samples from 16 cell lines with repeat lengths representing important phenotypic classes and diagnostic cutoffs. The alleles in these materials were characterized by consensus analysis in nine clinical laboratories. The information generated from this study is available on the Centers for Disease Control and Prevention and Coriell Cell Repositories websites. DNA purified from these cell lines is available to the genetics community through the Coriell Cell Repositories. The public availability of these reference materials should help support accurate clinical fragile X syndrome testing.

Simultaneous amplification, detection, and analysis of common mutations in the galactose-1-phosphate uridyl transferase gene.

Classic galactosemia is an autosomal recessive inherited error of galactose metabolism. It is caused by lack of galactose-1-phosphate uridyl transferase, an enzyme that is required to metabolize galactose-1-phosphate to uridine diphosphate galactose. The build up of galactose-1-phosphate is toxic at high levels and can damage the liver, brain, eyes, and other vital organs. Over 200 mutations have been identified in affected individuals. We describe an assay to identify nine target mutations or variants in the galactose-1-phosphate uridyl transferase gene, namely p.Q188R, p.S135L, p.K285N, p.L195P, p.T138M, p.Y209C, IVS2-2 A>G, p.L218L, and p.N314D. A single long-range PCR is followed by a multiplexed nucleotide extension assay (single nucleotide extension) and capillary electrophoresis to detect simultaneously all nine target mutations/variants. Fifty-four previously characterized samples (47 clinical samples and seven controls) gave a 100% concordance. We also report a nontarget novel mutation, p.L192X, and its profile using single nucleotide extension. This assay can complement the enzyme activity assay and identify familial mutations for testing additional family members.

Design, development, validation, and use of synthetic nucleic acid controls for diagnostic purposes and application to cystic fibrosis testing.

We have designed, tested, and validated synthetic DNA molecules that may be used as reference standard controls in the simultaneous detection of mutations in one or more genes. These controls consist of a mixture of oligonucleotides (100 to 120 bases long) each designed for the detection of one or more disease-causing mutation(s), depending on the proximity of the mutations to one another. Each control molecule is identical to 80 to 100 bases that span the targeted mutations. In addition, each oligonucleotide is tagged at the 5' and 3' ends with distinct nucleic acid sequences that allow for the design of complementary primers for polymerase chain reaction amplification. We designed the tags to amplify control molecules comprising 32 CFTR mutations, including the American College of Medical Genetics minimum carrier screening panel of 23, with one pair of primers in a single tube. We tested the performance of these controls on many platforms including the Applied Biosystems/Celera oligonucleotide ligation assay and the Tm Bioscience Tag-It platforms. All 32 mutations were detected consistently. This simple methodology allows for maximum flexibility and rapid implementation. It has not escaped our notice that the design of these molecules makes possible the production of similar controls for virtually any mutation or sequence of interest.