scholarly journals Night Blindness in Cystic Fibrosis: The Key Role of Vitamin A in the Digestive System

Nutrients ◽  
2019 ◽  
Vol 11 (8) ◽  
pp. 1876 ◽  
Author(s):  
Lorenzo Norsa ◽  
Laura Zazzeron ◽  
Marialaura Cuomo ◽  
Laura Claut ◽  
Anna Marta Clotilde Bulfamante ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Liver Disease ◽  
Vitamin A ◽  
Low Income ◽  
Vitamin A Deficiency ◽  
Intestinal Failure ◽  
Intestinal Resection ◽  
Low Income Countries ◽  
Cholestatic Liver Disease

Vitamin A is a fundamental micronutrient that regulates various cellular patterns. Vitamin A deficiency (VAT) is a worldwide problem and the primary cause of nocturnal blindness especially in low income countries. Cystic fibrosis (CF) is a known risk factor of VAD because of liposoluble vitamin malabsorption due to pancreatic insufficiency. We describe a case of a 9-year-old girl who experienced recurrent episodes of nocturnal blindness due to profound VAD. This little girl is paradigmatic for the explanation of the key role of the gut–liver axis in vitamin A metabolism. She presents with meconium ileus at birth, requiring intestinal resection that led to a transient intestinal failure with parenteral nutrition need. In addition, she suffered from cholestatic liver disease due to CF and intestinal failure-associated liver disease. The interaction of pancreatic function, intestinal absorption and liver storage is fundamental for the correct metabolism of vitamin A.

scholarly journals High dose vitamin A capsules – Rusty bullets?

2017 ◽  
Vol 8 (1) ◽  
pp. 52
Author(s):  
Ane B Fisker ◽  
Ted Greiner
Keyword(s):  
Vitamin A ◽  
Low Income ◽  
Vitamin A Deficiency ◽  
Scale Up ◽  
Low Income Countries ◽  
High Dose ◽  
Magic Bullet ◽  
Vitamin A Status ◽  
The Impact ◽  
High Dose Vitamin

High-dose vitamin A capsules (HDVAC) are distributed to preschool children in low-income countries on the assumption that they reduce mortality and treat vitamin A deficiency. As for other so-called magic bullet approaches, donors and policy makers consider their large-scale distribution highly cost-effective. Consequently, other ways to improve vitamin A status have received less attention; both donors and governments assume HDVAC are doing most of what needs to be done. Yet, the only evidence for an effect on mortality comes from 25-year-old studies and this effect no longer appears to be substantial. Surprisingly, impact evaluations have been absent. The only study that might be considered an effectiveness or impact evaluation found HDVAC had no effect in northern India. It is not widely appreciated that the impact of HDVAC on vitamin A status is limited, temporary and not cumulative over time. Nor can it be given to women except immediately after giving birth, and thus it is an inappropriate intervention for tackling vitamin A deficiency. To ensure that we use limited resources wisely, we need to identity and scale up strategies which combat vitamin A deficiency and reduce mortality.

scholarly journals Integrating primary eye care into global child health policies

2017 ◽  
Vol 103 (2) ◽  
pp. 176-180 ◽  
Author(s):  
Aeesha Nusrat Jehan Malik ◽  
Milka Mafwiri ◽  
Clare Gilbert
Keyword(s):  
Child Health ◽  
Vitamin A ◽  
Low Income ◽  
Low Vision ◽  
Vitamin A Deficiency ◽  
Health Policies ◽  
Low Income Countries ◽  
Eye Care ◽  
Corneal Scarring ◽  
Blind Children

Globally, approximately 75% of blind children live in low-income countries (LICs). Almost half of blindness and low vision in LICs is due to avoidable causes such as corneal scarring from measles infection, vitamin A deficiency disorders, use of harmful traditional eye remedies, ophthalmia neonatorum and cataract.

Evaluation of the role of bile acids and serotonin as markers of pruritus in children with chronic cholestatic liver disease

2021 ◽  
Author(s):  
Nehal El Koofy ◽  
Noha Yassin ◽  
Sawsan Okasha ◽  
Hany William ◽  
Wafaa Elakel ◽  
...  
Keyword(s):  
Liver Disease ◽  
Bile Acids ◽  
Cholestatic Liver Disease

Presence through absence? Understanding the role of capital in the African Human Rights Action Plan

2020 ◽  
Vol 58 (4) ◽  
pp. 579-600
Author(s):  
Obiora Chinedu Okafor ◽  
Sanaa Ahmed ◽  
Sylvia Bawa ◽  
Ibironke Odumosu-Ayanu
Keyword(s):  
Human Rights ◽  
Low Income ◽  
Action Plan ◽  
Significant Degree ◽  
Universal Declaration ◽  
Low Income Countries ◽  
Significant Extent ◽  
Global Capital ◽  
Market Practices

AbstractThis study examines the African Human Rights Action Plan (AHRAP) through the lens of Upendra Baxi's germinal theory on the emergence in our time of a ‘trade-related, market-friendly human rights’ (TREMF) thesis that is challenging the specific understandings of ‘people-centric’ human rights that are predicated in the letter and spirit of the Universal Declaration of Human Rights (UDH). Baxi contends, instead, that the dominant strands of the contemporary understandings of human rights are – for the most part – designed to protect the interests of global capital. That said, human rights frameworks in low-income countries need to be studied with a view to what they say and don't say about global capital. Despite its attempt to facilitate a progressive realisation of human rights in Africa, the AHRAP does not rise far enough above the TREMF paradigm to re-locate itself within the UDH one. This is due to the AHRAP not adequately theorising and analysing the role of capital in the (non)realisation of human rights in Africa. By allowing trade and market practices to slip to a significant extent beyond its purview, the AHRAP privileges – to a significant degree – the needs/interests of capital over the human rights of ordinary Africans. That is, the victims of the excesses of capital in Africa are reincarnated in the AHRAP document by the fact of their exclusion from it.

Genotype Effects on β-Carotene Conversion to Vitamin A: Implications on Reducing Vitamin A Deficiency in the Philippines

2021 ◽  
pp. 037957212110602
Author(s):  
Mark Pretzel P. Zumaraga ◽  
Jose Maria Reynaldo Apollo Arquiza ◽  
Mae Anne Concepcion ◽  
Leah Perlas ◽  
Ma. Neda Alcudia-Catalma ◽  
...  
Keyword(s):  
Vitamin A ◽  
Children And Adolescents ◽  
Vitamin A Deficiency ◽  
The Philippines ◽  
Fisher Exact Test ◽  
National Capital Region ◽  
Nutrition Survey ◽  
Vitamin A Status ◽  
Genotype Frequencies

Background: The study aimed to identify two beta-carotene 15,15′-monooxygenase (BCMO1) mutations, namely R267S and A379V, and determine their association with vitamin A status among Filipinos 6 to 19 years old respondents of the 2013 Philippine National Nutrition Survey living in the National Capital Region. Materials and Methods: This study followed cross-sectional design. Whole blood specimen was collected in the morning and was used as source of genomic DNA and serum for retinol concentration determination. Fisher exact test was performed to determine whether genotype frequencies were associated to retinol concentrations/vitamin A deficiency status. A level of P < .05 was identified as significant. Results: A total of 693 Filipino children and adolescents were included. Of the 693, there were at least 7.6% who bears the combined mutations for R267S + A379V. Association analysis showed that an inverse relationship exists between the A379V TT variant and vitamin A status. Although the exact role of these identified polymorphisms on retinol/carotenoid metabolism need to be confirmed in dedicated functional studies. Conclusion: This study has identified for the first time the presence of 2 nonsynonymous genetic variants/mutations in the coding region of BCMO1 gene. Interestingly, one of these two variants, the A379V T, was found to be associated with vitamin A status. It is, therefore, warranted to investigate the role of BCMO1 variants for the success of supplementation programs and fortification efforts among vulnerable populations in this region. Genetic variability should be considered for future provitamin A supplementation recommendations among children and adolescents in the Philippines.

scholarly journals Next generation sequencing of RB1gene for the molecular diagnosis of ethnic minority with retinoblastoma in Yunnan

2020 ◽  
Author(s):  
Huaiyu Gu ◽  
Zhen Zhang ◽  
Yi-shuang Xiao ◽  
Ru Shen ◽  
Hong-chao Jiang ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Next Generation Sequencing ◽  
Low Income ◽  
Eastern China ◽  
Low Income Countries ◽  
Next Generation ◽  
Single Nucleotide Variants ◽  
Bioinformatics Pipeline ◽  
Generation Sequencing

Abstract Background: Retinoblastoma is a rare intraocular malignancy and typically initiated by inactivating biallelic mutations of RB1 gene. Each year, ~8,000 children worldwide are diagnosed for retinoblastoma. In high-income countries, patient survival is over 95% while low-income countries is ~30%.If disease is diagnosed early and treated in centers specializing in retinoblastoma, the survival might exceed 95% and many eyes could be safely treated and support a lifetime of good vision. In China, approximate 1,100 newly diagnosed cases are expected annually and 28 hospitals covering 25 provinces established centers classified by expertise and resources for better treatment options and follow-up. Comparing with other province of eastern China, Yunnan province is remote geographically. This might result that healthcare staff have low awareness of the role of genetic testing in management and screening in families.Methods: The patients with retinoblastoma were selected in Yunnan. DNA from blood was used for targeted gene sequencing. Then, an in-house bioinformatics pipeline was done to detect both single nucleotide variants and small insertions/deletions. The pathogenic mutations were identified and further confirmed by conventional methods and cosegregation in families.Results: Using our approach, targeted next generation sequencing was used to detect the mutation of these 12 probands. Bioinformatic predictions showed that nine mutations were found in our study and four were novel pathogenic variants in these nine mutations.Conclusions: It’s the first report to describe RB1 mutations in Yunnan children with retinoblastoma. This study would improve role of genetic testing for management and family screening.

Sign in / Sign up

Export Citation Format

Share Document