scholarly journals Blau syndrome: a case report from Palestine

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Salam Iriqat ◽  
Mohammed Abu Safieh ◽  
Manuel Fatouleh ◽  
Abdulsalam Alkaiyat

Abstract Background This case study documents the first familial case of Blau syndrome (BS) in Palestine characterized with mutation in CARD15/NOD2. Case presentation Eighteen years old female was initially misdiagnosed with Juvenile idiopathic arthritis (JIA). The patient had been on steroids and methotrexate treatment for the last 16 years, but did not respond well to treatment. Initial examination at Saint John of Jerusalem Eye Hospital Group clinic showed bilateral intermediate uveitis with camptodactyly. The patient’s sister (aged 19 years) had bilateral intermediate uveitis and camptodactyly. Both eyes of their father had signs of old posterior uveitis. Father’s left eye showed 360 degrees posterior synechia, mature cataract with old Keratic precipitates (KPs). He also had camptodactyly. The patient was referred to pediatric rheumatologist to rule out sarcoidosis. Lung CT scan showed bronchiectasis, genetic consultation followed. Complete eye examination, full history, refraction, and Optical coherence tomography (oct) were done. Systemic and topical steroid therapy could not control the ocular inflammation. The family then was referred to a geneticist. Genetic analyses showed that the proband and all three family members had an R334q mutation in the CARD15/Nod2 gene. Conclusions BS should be considered in the differential diagnosis of childhood uveitis, especially in low and middle income countries where it is misdiagnosed in many cases, which delay appropriate diagnosis and thus control. Genetic analysis of the CARD15/Nod2 gene is helpful in the diagnosis. Steroids alone are not enough to control the disease, other immunosuppressants and biologics are needed.

2021 ◽  
Vol 5 ◽  
pp. 72
Author(s):  
Lisa R. Hirschhorn ◽  
Miriam Frisch ◽  
Jovial Thomas Ntawukuriryayo ◽  
Amelia VanderZanden ◽  
Kateri Donahoe ◽  
...  

Background: We describe the development and testing of a hybrid implementation research (IR) framework to understand the pathways, successes, and challenges in addressing amenable under-5 mortality (U5M) – deaths preventable through health system-delivered evidence-based interventions (EBIs) – in low- and middle-income countries (LMICs). Methods: We reviewed existing IR frameworks to develop a hybrid framework designed to better understand U5M reduction in LMICs from identification of leading causes of amenable U5M, to EBI choice, identification and testing of strategies, work to achieve sustainability at scale and key contextual factors. We then conducted a mixed-methods case study of Rwanda using the framework to explore its utility in understanding the steps the country took in EBI-related decision-making and implementation between 2000-2015, key contextual factors which hindered or facilitated success, and extract actionable knowledge for other countries working to reduce U5M. Results: While relevant frameworks were identified, none individually covered the scope needed to understand Rwanda’s actions and success. Building on these frameworks, we combined and adapted relevant frameworks to capture exploration, planning, implementation, contextual factors in LMICs such as Rwanda, and outcomes beyond effectiveness and coverage. Utilizing our hybrid framework in Rwanda, we studied multiple EBIs and identified a common pathway and cross-cutting strategies and contextual factors that supported the country’s success in reducing U5M through the health system EBIs. Using these findings, we identified transferable lessons for other countries working to accelerate reduction in U5M. Conclusions: We found that a hybrid framework building on and adapting existing frameworks was successful in guiding data collection and interpretation of results, emerging new insights into how and why Rwanda achieved equitable introduction and implementation of health system EBIs that contributed to the decline in U5M, and generated lessons for countries working to drop U5M.


Water ◽  
2018 ◽  
Vol 11 (1) ◽  
pp. 27 ◽  
Author(s):  
David Graham ◽  
Myra Giesen ◽  
Joshua Bunce

Globally increasing antibiotic resistance (AR) will only be reversed through a suite of multidisciplinary actions (One Health), including more prudent antibiotic use and improved sanitation on international scales. Relative to sanitation, advanced technologies exist that reduce AR in waste releases, but such technologies are expensive, and a strategic approach is needed to prioritize more affordable mitigation options, especially for Low- and Middle-Income Countries (LMICs). Such an approach is proposed here, which overlays the incremental cost of different sanitation options and their relative benefit in reducing AR, ultimately suggesting the “next-most-economic” options for different locations. When considering AR gene fate versus intervention costs, reducing open defecation (OD) and increasing decentralized secondary wastewater treatment, with condominial sewers, will probably have the greatest impact on reducing AR, for the least expense. However, the best option for a given country depends on the existing sewerage infrastructure. Using Southeast Asia as a case study and World Bank/WHO/UNICEF data, the approach suggests that Cambodia and East Timor should target reducing OD as a national priority. In contrast, increasing decentralized secondary treatment is well suited to Thailand, Vietnam and rural Malaysia. Our approach provides a science-informed starting point for decision-makers, for prioritising AR mitigation interventions; an approach that will evolve and refine as more data become available.


2013 ◽  
Vol 3 (4) ◽  
pp. 582-591 ◽  
Author(s):  
A. E. Okem ◽  
S. Xulu ◽  
E. Tilley ◽  
C. Buckley ◽  
E. Roma

In recent years there has been a growing body of knowledge exploring the benefits of using sanitation-derived nutrients. Such studies aim to uncover strategies that facilitate nutrient recovery from urine and faecal sludge for agricultural use. This paper presents the findings of a study which assessed the willingness to handle and use urine in agriculture among people living in rural areas of eThekwini Municipality, South Africa. Results show that less than 5% of participants are using urine as a fertiliser. This could be attributed to limited awareness of the value of urine in agriculture since only 9.7% are aware that urine contains essential nutrients that can support plant growth. Furthermore, health concerns, smell and the opinions of others are identified as barriers to the handling of urine. The study therefore recommends that participatory field trials and promotional activities are conducted to improve users’ awareness and acceptance. The outcome of this research is of importance to help inform low- and middle-income countries’ governments as they address urban and environmental challenges such as access to adequate sanitation, poverty and food security.


Author(s):  
Lily Yarney ◽  
Emmanuel Kojo Sakyi ◽  
Jonathan Chuks Mba ◽  
Peter K. Achamwie

Climate change poses a major threat to development in most low and middle-income countries, especially the sub – Saharan Africa. Wurompo is a small farming community in the Wenchi Municipality of the Brong-Ahafo region of Ghana that depends on rain-fed agriculture activities for livelihood. In recent years, droughts, unpredictable rainfall pattern and crop failure have become common in the area. The study assessed knowledge and awareness, effects of climate change on female farmers, and their adaptation strategies. A case study in design, qualitative methods were used to collect data from 50 purposefully selected participants. Data were analyzed using themes and sub-themes generated from the research questions. Findings showed lack of adequate information and knowledge on climate change and its effects. Climate change has impacted negatively on these farmers stemming from decline in crop production and unavailability of adequate water supply in due season. Challenges to climate change adaptation are poverty, poor basic infrastructure, and modern farming practices. Farmers must be educated on climate change and its effects, with training on the necessary adaptation strategies to build their resilience. Policies that target rural farmers to adapt to climate change, and device modern agricultural techniques and practices are also necessary.


2020 ◽  
Vol 8 (4) ◽  
pp. 55-60
Author(s):  
Courtney Stachowski ◽  
Noxolo Magubane ◽  
Mbavhalelo Jade Tshikosi ◽  
Wilberto Robles

Introduction: Securing a special import permit for the donation of an unregistered contraceptive product can be a viable option to import the product in an expedited manner. However, this process can be difficult due to varying country requirements and the availability of accurate and timely information. Case description: This paper will explore the process for securing import permits for donated contraceptive products in Zambia and Nigeria, comparing national guidelines to applicant experiences and providing recommendations to future applicants. Discussion and evaluation: In practice, application requirements and timelines for special import permits in Zambia and Nigeria differed from national guidelines. Despite these differences, special import permits can be secured more quickly than formal product registration, which is a slower but more sustainable solution. Conclusion: Due to a lack of comprehensive and up-to-date guidelines online for some low- and middle-income countries (LMICs), the regulatory community is encouraged to share their experiences with special import permit application processes.


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