A novel mutation in the FGG gene causes hypofibrinogenemia in a Chinese family.

Congenital fibrinogen disorders are a group of coagulation deficiencies caused by fibrinogen defects and are divided into four types, including afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, and hypodysfibrinogenemia. In this study, we collected a family with hypofibrinogenemia, and genetics analysis identify a novel pathogenic variants (c.668G > C, p.Arg223Thr) in the FGG gene. And electron microscope observation revealed significant changes in the ultrastructure of fibrin of the proband. Our research expands the phenotypic and genetic spectrum associated with the FGG gene, which would facilitate in genetic counselling and prenatal genetic diagnosis.

Lessons on malaria control in the ethnic minority regions in Northern Myanmar along the China border, 2007-2014.

BACKGROUND: For many countries where malaria is endemic, the burden of malaria is high in border regions. In ethnic minority areas along the Myanmar-China border, residents have poor access to medical care for diagnosis and treatment, and there have been many malaria outbreaks in such areas. Since 2007, with the support of the Global Fund to Fight AIDS, Tuberculosis and Malaria (GFATM), a malaria control project was introduced to reduce the malaria burden in several ethnic minority regions. METHODS: A malaria control network was established during the period from 2007 to 2014. Multiple malaria interventions, including diagnosis, treatment, distribution of LLINs and health education, were conducted to improve the accessibility and quality of malaria control services for local residents. Annual cross-sectional surveys were conducted to evaluate intervention coverage and indicators of malaria transmission. RESULTS: In ethnic minority regions where a malaria control network was established, both the annual malaria incidence (19.1 per thousand per year, in 2009; 8.7, in 2014) and malaria prevalence (13.6 % in 2008; 0.43 % in 2014) decreased dramatically during the past 5-6 years. A total of 851 393 febrile patients were detected, 202 598 malaria cases (including confirmed cases and suspected cases) were treated, and 759 574 LLINs were delivered to populations at risk. Of households in 2012, 73.9 % had at least one ITNs/LLINs (vs. 28.3 %, in 2008), and 50.7 % of children less than 5 years and 50.3 % of pregnant women slept under LLINs the night prior to their visit. Additionally, malaria knowledge was improved in 68.4 % of residents. CONCLUSION: There has been great success in improving malaria control in these regions from 2007 to 2014. Malaria burdens have decreased, especially in KOK and WA. The continued maintenance of sustainable malaria control networks in these regions may be a long-term process, due to regional conflicts and the lack of funds, technology, and health workers. Furthermore, information and scientific support from the international community should be offered to these ethnic minority regions to uphold recent achievements.

Effectiveness and impact of the cross-border healthcare model as implemented by non-governmental organizations: case study of the malaria control programs by health poverty action on the China-Myanmar border.

BACKGROUND: In the Yunnan province of China, 18 counties in six prefectures border Myanmar. Due to its particular combination of geographic features, climate conditions, and cultural landscape, the area provides a suitable environment for the spread of insect-borne diseases such as malaria. In five identified Myanmar Special Regions along the China-Myanmar border, economic development is lagging, people live in extreme poverty, and the healthcare system is fragile. Coupled with political and other reasons, this precludes malaria control work to be effectively carried out in Myanmar, resulting in a heavy burden of the disease. Frequent population movements and favorable conditions for malaria transmission on the border fuel difficulties in controlling and eliminating the spread of the disease in the area. CASE PRESENTATION: To reduce the prevalence of malaria in the China-Myanmar border area and improve healthcare services for local residents in this particular environment, Health Poverty Action (HPA) has provided malaria aid in the area since the beginning of 2006, as a sub-recipient of the China Global Fund Malaria Programs. In this case study, we examined HPA's activities as part of its malaria control programs in the area, analyzed and summarized the effectiveness and impact of the cross-border healthcare model as implemented by non-governmental organizations, and put forward suggestions for cross-border health aid models and for the prevention of malaria transmission in the Greater Mekong Subregion. CONCLUSIONS: HPA had carried out a great quantity of successful malaria control activities in border areas between China and Myanmar, strengthened the partnership and established the collaboration, coordination and cooperation channels among stakeholders. HPA has laid good groundwork and developed its valuable model that could be highlighted and referenced.