Pfeiffer syndrome type 3 with FGR2 c.1052C>G (p.Ser351Cys) variant in West Africa: a case report

Pfeiffer syndrome is a rare genetic condition that includes anomalies of the head, hands, and feet. It was originally described by Rudolf Pfeiffer in 1964. As a result of varied clinical presentations, there is a low threshold for missing the diagnosis. Three (3) cases were found by the authors in the medical literature from the African continent, all of which lacked molecular studies. The main dysmorphic features we observed in our patient were; macrocephaly with widely gaped sagittal sutures, proptosis with ocular hypertelorism, ankylosed elbows, wide sandal gap and medially deviated broad great toes. In this case, sequence analysis using Illumina technology and deletion/duplication testing of 65 genes for variants associated with craniosynostosis syndromes was performed at Invitae Medical Genetic laboratory. A diagnosis of Pfeiffer syndrome type 3 with FGFR2 c.1052C>G (p.Ser351Cys) variant was made. In conclusion, this case will aid health care providers especially in areas of low accessibility to molecular studies to promptly identify, appropriately manage the condition as well as counselling the parents to offset the risk of abandonment of neonates with dysmorphic features

Clinicopathologic characteristics of early-onset breast cancer: a comparative analysis of cases from across Ghana

BACKGROUND: Breast cancer is the commonest cancer diagnosed globally and the second leading cause of cancer-related mortality among women younger than 40 years. This study comparatively reviewed the demographic, pathologic and molecular features of Early-Onset Breast Cancer (EOBC) reported in Ghana in relation to Late Onset Breast Cancer (LOBC). METHODS: A descriptive, cross-sectional design was used, with purposive sampling of retrospective histopathology data from 2019 to 2021. Reports of core or incision biopsy, Wide Local Excision or Mastectomy with or without axillary lymph node dissection specimen and matched immunohistochemistry reports were merged into a single file and analysed with SPSS v. 20.0. Descriptive statistics of frequencies and percentages were used to describe categorical variables. Cross-tabulation and chi-square test was done at a 95% confidence interval with significance established at p \u3c 0.05. RESULTS: A total of 2418 cases were included in the study with 20.2% (488 cases) being EOBCs and 79.8% (1930 cases) being LOBCs. The median age at diagnosis was 34.66 (IQR: 5.55) in the EOBC group (\u3c 40 years) and 54.29 (IQR: 16.86) in the LOBC group (≥ 40 years). Invasive carcinoma-No Special Type was the commonest tumour type with grade III tumours being the commonest in both categories of patients. Perineural invasion was the only statistically significant pathologic parameter with age. EOBC was associated with higher DCIS component (24.8% vs 21.6%), lower hormone-receptor-positive status (52.30% vs 55.70%), higher proliferation index (Ki-67 \u3e 20: 82.40% vs 80.30%) and a higher number of involved lymph nodes (13.80% vs 9.00%). Triple-Negative Breast cancer (26.40% vs 24.30%) was the most predominant molecular subtype of EOBC. CONCLUSION: EOBCs in our setting are generally more aggressive with poorer prognostic histopathological and molecular features when compared with LOBCs. A larger study is recommended to identify the association between relevant pathological features and early onset breast cancer in Ghana. Again, further molecular and genetic studies to understand the molecular genetic drivers of the general poorer pathological features of EOBCs and its relation to patient outcome in our setting is needed

Circulating tumor DNA is readily detectable among Ghanaian breast cancer patients supporting non-invasive cancer genomic studies in Africa.

Circulating tumor DNA (ctDNA) sequencing studies could provide novel insights into the molecular pathology of cancer in sub-Saharan Africa. In 15 patient plasma samples collected at the time of diagnosis as part of the Ghana Breast Health Study and unselected for tumor grade and subtype, ctDNA was detected in a majority of patients based on whole- genome sequencing at high (30×) and low (0.1×) depths. Breast cancer driver copy number alterations were observed in the majority of patients

Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International

Introduction: Rare diseases (RD) are a health priority worldwide, overall affecting hundreds of millions of people globally. Early and accurate diagnosis is essential to support clinical care but remains challenging in many countries, especially the low- and medium-income ones. Hence, undiagnosed RD (URD) account for a significant portion of the overall RD burden. Methods: In October 2020, the Developing Nations Working Group of the Undiagnosed Diseases Network International (DNWG-UDNI) launched a survey among its members, belonging to 20 countries across all continents, to map unmet needs and opportunities for patients with URD. The survey was based on questions with open answers and included eight different domains. Conflicting interpretations were resolved in contact with the partners involved. Results: All members responded to the survey. The results indicated that the scientific and medical centers make substantial efforts to respond to the unmet needs of patients. In most countries, there is a high awareness of RD issues. Scarcity of resources was highlighted as a major problem, leading to reduced availability of diagnostic expertise and research. Serious equity in accessibility to services were highlighted both within and between participating countries. Regulatory problems, including securing informed consent, difficulties in sending DNA to foreign laboratories, protection of intellectual property, and conflicts of interest on the part of service providers, remain issues of concern. Finally, most respondents stressed the need to strengthen international cooperation in terms of data sharing, clinical research, and diagnostic expertise for URD patients in low and medium income countries. Discussion: The survey highlighted that many countries experienced a discrepancy between the growing expertise and scientific value, the level of awareness and commitment on the part of relevant parties, and funding bodies. Country-tailored public health actions, including general syllabus of medical schools and of the education of other health professionals, are needed to reduce such gaps.VSh is supported by Health Systems Research Institute of Thailand (65-040). SJ is supported by National Medical Research Council, Singapore (Grants ID CSAINV21jun-0003 and CIRG22jul-0003).S

The Human Phenotype Ontology in 2024: phenotypes around the world.

The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs

Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators

BackgroundPatients, families, the healthcare system, and society as a whole are all significantly impacted by rare diseases (RDs). According to various classifications, there are currently up to 9,000 different rare diseases that have been recognized, and new diseases are discovered every month. Although very few people are affected by each uncommon disease individually, millions of people are thought to be impacted globally when all these conditions are considered. Therefore, RDs represent an important public health concern. Although crucial for clinical care, early and correct diagnosis is still difficult to achieve in many nations, especially those with low and middle incomes. Consequently, a sizeable amount of the overall burden of RD is attributable to undiagnosed RD (URD). Existing barriers and policy aspects impacting the care of patients with RD and URD remain to be investigated.MethodsTo identify unmet needs and opportunities for patients with URD, the Developing Nations Working Group of the Undiagnosed Diseases Network International (DNWG-UDNI) conducted a survey among its members, who were from 20 different nations. The survey used a mix of multiple choice and dedicated open questions covering a variety of topics. To explore reported needs and analyze them in relation to national healthcare economical aspects, publicly available data on (a) World Bank ranking; (b) Current health expenditure per capita; (c) GDP per capita; (d) Domestic general government health expenditure (% of GDP); and (e) Life expectancy at birth, total (years) were incorporated in our study.ResultsThis study provides an in-depth evaluation of the unmet needs for 20 countries: low-income (3), middle-income (10), and high-income (7). When analyzing reported unmet needs, almost all countries (N = 19) indicated that major barriers still exist when attempting to improve the care of patients with UR and/or URD; most countries report unmet needs related to the availability of specialized care and dedicated facilities. However, while the countries ranked as low income by the World Bank showed the highest prevalence of referred unmet needs across the different domains, no specific trend appeared when comparing the high, upper, and low-middle income nations. No overt trend was observed when separating countries by current health expenditure per capita, GDP per capita, domestic general government health expenditure (% of GDP) and life expectancy at birth, total (years). Conversely, both the GDP and domestic general government health expenditure for each country impacted the presence of ongoing research.ConclusionWe found that policy characteristics varied greatly with the type of health system and country. No overall pattern in terms of referral for unmet needs when separating countries by main economic or health indicators were observed. Our findings highlight the importance of identifying actionable points (e.g., implemented orphan drug acts or registries where not available) in order to improve the care and diagnosis of RDs and URDs on a global scale

Undersöka Internet och e-handel Antagande i Music Records Business i Ghana

Context: Information Communication Technologies (ICT) and its related applications are increasingly penetrating all spheres of individual, organizational, and societal aspects of everyday life in the developing economies and Africa as well. The Internet is emerging as an important technology for commerce and business. The employment of Internet based technologies and applications in music service both in online sales and marketing of music records and digital music service is significantly altering the approach that traditional commerce is done. It eliminates all geographical bottlenecks, allowing the establishment of virtual outlets and presence throughout the world, and permits direct and instant foreign market entry to less known artistes and music records businesses. Objectives: In this study, I investigate the state of internet and e-commerce adoption in the music record business in Ghana. I seek to find out the reasons for the adoption of e-commerce platform within the music industry and to assess the challenges confronting the adoption of e-commerce. Methods: We conducted a Literature Review to get an overview of the music industry as a whole, and also to describe the diffusion of e-commerce technologies in music services. We use qualitative research approach to collect data and to identify reasons for the adoption of e-commerce platforms primarily among consumers and retailers of the music services. We conducted interviews with musicians and managers of record companies were conducted to ascertain their reasons for using or non using e-commerce technologies, and identify prospects and challenges confronting its adoption within the industry. Conclusion: The evaluation from musicians, consumers and other key players indicated their willingness to go for the e-commerce platforms in music service delivery. However, they are challenged by poor infrastructures, unsettled issues of monetization of music contents coupled with high digital gap among the citizenry. Prevailing government efforts contribute nevertheless in closing the digital disparity among the populace, and Telecom and ISPs improvement in service delivery give an outlook of full realization of the goal of e-commerce adoption in the music industry in Ghana.Samuel Kwesi Wiafe P.O. Box KF 2034, Koforidua-Ghana Tel: +233 (0)20880110

Undersöka Internet och e-handel Antagande i Music Records Business i Ghana

Context: Information Communication Technologies (ICT) and its related applications are increasingly penetrating all spheres of individual, organizational, and societal aspects of everyday life in the developing economies and Africa as well. The Internet is emerging as an important technology for commerce and business. The employment of Internet based technologies and applications in music service both in online sales and marketing of music records and digital music service is significantly altering the approach that traditional commerce is done. It eliminates all geographical bottlenecks, allowing the establishment of virtual outlets and presence throughout the world, and permits direct and instant foreign market entry to less known artistes and music records businesses. Objectives: In this study, I investigate the state of internet and e-commerce adoption in the music record business in Ghana. I seek to find out the reasons for the adoption of e-commerce platform within the music industry and to assess the challenges confronting the adoption of e-commerce. Methods: We conducted a Literature Review to get an overview of the music industry as a whole, and also to describe the diffusion of e-commerce technologies in music services. We use qualitative research approach to collect data and to identify reasons for the adoption of e-commerce platforms primarily among consumers and retailers of the music services. We conducted interviews with musicians and managers of record companies were conducted to ascertain their reasons for using or non using e-commerce technologies, and identify prospects and challenges confronting its adoption within the industry. Conclusion: The evaluation from musicians, consumers and other key players indicated their willingness to go for the e-commerce platforms in music service delivery. However, they are challenged by poor infrastructures, unsettled issues of monetization of music contents coupled with high digital gap among the citizenry. Prevailing government efforts contribute nevertheless in closing the digital disparity among the populace, and Telecom and ISPs improvement in service delivery give an outlook of full realization of the goal of e-commerce adoption in the music industry in Ghana.Samuel Kwesi Wiafe P.O. Box KF 2034, Koforidua-Ghana Tel: +233 (0)20880110

Assessment of dumpsites leachate, geotechnical properties of the soil, and their impacts on surface and groundwater quality of Sunyani, Ghana

Leachate from sanitary landfill and dumpsites have potential to cause soil and groundwater contamination, and disrupt ecosystems. However, there is little information about dumpsite leachates and geotechnical properties and their impacts on surface and groundwater in Bono region, Ghana. This study assessed dumpsites leachate, geotechnical properties of the soil, and their impacts on surface and groundwater quality in Sunyani. Six triplicate leachates, eleven triplicate groundwater and three triplicate surface water samples were taken at (up-stream, mid-stream and down-stream) urban dumpsite, and eight triplicate groundwater samples taken around peri-urban dumpsite. Water samples were stored (100). WQI ranged from 6.51 to 289, indicating excellent to heavily polluted groundwater sources. Surface water was heavily polluted with WQI between 0.84 and 776.75, with majority having WQI>100. The heavily polluted samples were located 75-155 m away from urban dumpsite. Moderate significant negative association was established between (WQI-P and WQI-H) and distance with multiple R2=0.4709, p=0.0191 and R2= 0.4482, p=0.02425 respectively. Statistically, strong significant negative association between (WQI-P &amp; WQI-H) and Ip (p < 0.05). This implies that when plasticity index and distance from groundwater sources to dumpsite increased, WQI values decreased, and groundwater quality improved