Vitamin D dependent rickets Type 2A: a case series of two siblings with novel mutation in vitamin D receptor gene responded to high dose oral calcium and calcitriol DOI

Noor-ul-ain Mehak,

Sommayya Aftab, Abid Qureshi

et al.

Journal of Pediatric Endocrinology and Metabolism, Journal Year: 2025, Volume and Issue: unknown

Published: April 12, 2025

Vitamin D dependent rickets type 2A(VDD2A) is a rare autosomal recessive disorder due to mutation in vitamin receptor (VDR) gene leading hypocalcemia, secondary hyperparathyroidism and signs of rickets. We are reporting case series two siblings with VDDR2A who were managed non-conventional manner (oral calcium oral D) tertiary care hospital resource limited country. Two male presented at the age 10 years (case 1) 11.5 2) complaints short stature walking difficulty since 4 1.5 year respectively. They born consanguineous parents history maternal cousins having same complaints. The investigations showed frank findings on imaging biochemical evidence hypophosphatemia, raised levels alkaline phosphatase parathyroid hormone normal 25-OH 1,25(OH)2D3 confirming diagnosis calcipenic whole exome sequencing (WES) 1 (younger sibling) that he was carrying novel homozygous variant VDR c.1354C>T, p(Arg452Cys). both being high doses supplements activated form D. can present or without alopecia.It be areas.

Language: Английский

Vitamin D as a Nutri-Epigenetic Factor in Autoimmunity—A Review of Current Research and Reports on Vitamin D Deficiency in Autoimmune Diseases DOI Open Access
Artur Mazur, P. Frączek, Jacek Tabarkiewicz

et al.

Nutrients, Journal Year: 2022, Volume and Issue: 14(20), P. 4286 - 4286

Published: Oct. 14, 2022

Epigenetics is a series of alterations regulating gene expression without disrupting the DNA sequence bases. These regulatory mechanisms can result in embryogenesis, cellular differentiation, X-chromosome inactivation, and DNA-protein interactions. The main epigenetic considered to play major role both health disease are methylation, histone modifications, profiling non-coding RNA. When fragile balance between these simultaneously occurring phenomena disrupted, risk pathology increases. Thus, factors that determine proper modeling defined those with disruptive influence sought. Several such proven negative effects have already been described. Diet nutritional substances recently one most interesting targets exploration for states, including autoimmunity. preventive nutrition maintaining sufficient vitamin D concentration maternal blood during pregnancy, as well early years life, emphasized. Opportunities also being investigated affecting course by exploring nutriepigenetics. authors aim review literature presenting important nutrients potentially selected autoimmune disorders.

Language: Английский

Citations

94

Biofortification’s contribution to mitigating micronutrient deficiencies DOI
Jie Li, Cathie Martin, Alisdair R. Fernie

et al.

Nature Food, Journal Year: 2024, Volume and Issue: 5(1), P. 19 - 27

Published: Jan. 2, 2024

Language: Английский

Citations

18

Novel Insights into the Molecular Mechanisms of Atherosclerosis DOI Open Access
Armanda Wojtasińska, Weronika Frąk, Wiktoria Lisińska

et al.

International Journal of Molecular Sciences, Journal Year: 2023, Volume and Issue: 24(17), P. 13434 - 13434

Published: Aug. 30, 2023

Atherosclerosis is one of the most fatal diseases in world. The associated thickening arterial wall and its background consequences make it a very composite disease entity with many mechanisms that lead to creation. It an active process, scientists from various branches are engaged research, including molecular biologists, cardiologists, immunologists. This review summarizes available information on pathophysiological implications atherosclerosis, focusing endothelium dysfunction, inflammatory factors, aging, uric acid, vitamin D, miRNA expression as recent evidence interactions cellular elements. Analyzing new discoveries for underlying causes this condition assists general research improve understanding mechanism pathophysiology thus prevention cardiovascular diseases.

Language: Английский

Citations

42

Vitamin D and polycystic ovary syndrome (PCOS): a review DOI Open Access
Anmol Mohan, Ramsha Haider, Hajar Fakhor

et al.

Annals of Medicine and Surgery, Journal Year: 2023, Volume and Issue: 85(7), P. 3506 - 3511

Published: June 5, 2023

A common health problem known as polycystic ovarian syndrome (PCOS), is characterized by irregular periods, an excess of androgen production, and ovaries. It one the most prevalent endocrine disorders in women reproductive age, affecting 4-20% worldwide. Numerous studies have found a connection between onset symptoms PCOS Vitamin D insufficiency. insufficiency causes calcium dysregulation follicular arrest with PCOS, which connected to menstrual irregularities fertility issues. Studies metabolic alterations VDR polymorphisms such iApa-I, Taq-I, Cdx2, Fok-I. Insulin resistance directly related D, distinctive characteristics phenotype. Thus, it suggested that therapy may help patients their insulin sensitivity. In addition resistance, cardiovascular issues are second disturbance low levels experience. Dyslipidemia not linked increased risk disease PCOS-affected women. dramatically improves glucose metabolism increasing receptor expression reducing pro-inflammatory cytokines. The effect on dysfunctions associated be mediated overall impact resistance. supplementation improved folliculogenesis, decreased blood testosterone patients, all had significant ability procreate. As result, might cutting-edge therapeutic strategy for treating concurrently.

Language: Английский

Citations

28

Prevalence of vitamin D deficiency and associated risk of all-cause and cause-specific mortality among middle-aged and older adults in the United States DOI Creative Commons
Ting‐Yi Wang, Hung‐Wei Wang, Ming‐Yan Jiang

et al.

Frontiers in Nutrition, Journal Year: 2023, Volume and Issue: 10

Published: May 18, 2023

The prevalence of vitamin D deficiency varied among populations and regions worldwide. In addition, the association between health outcomes remained controversial. Our study aimed to investigate its with mortality risk non-institutional middle-aged older adults in United States.The population included 11,119 adult participants aged 50 79 years 2007-2016 National Health Nutrition Examination Survey (NHANES). Vitamin status was divided as ≤ 30 (severely deficient), 30.1-50 (moderately 50.1-75 (insufficient), 75.1-100 (sufficient), > 100 nmol/L (very sufficient). NHANES data were linked Death Index ascertain survival cause death.The 61.5 (survey-weighted) 47.9% men. Among them, 4.6% severely deficient, 15.2% moderately 33.6% insufficient. Individuals higher levels tended be female, older, white people, non-smoker, non-single, more educated, family income, lower body mass index. During a median follow-up 97.0 months, total 1,585 died (15.9 per 10,000 person-months). crude analysis showed that deficiency, but not insufficiency, correlated all-cause risk. similar after adjusting for potential confounders, showing (HR: 1.38, 95% CI 1.15-1.66), insufficiency 1.03, 0.88-1.20), we an independent factor death from pneumonia 3.82, 1.14-12.86) cardiovascular diseases, cancer, or cerebrovascular diseases.In summary, States, nearly 20% deficient. increased

Language: Английский

Citations

24

A review of the potential effect of vitamin D as an anti-inflammatory agent in cardiometabolic diseases DOI Creative Commons
Kabelo Mokgalaboni

Metabolism Open, Journal Year: 2025, Volume and Issue: 25, P. 100348 - 100348

Published: Jan. 9, 2025

The prevalence of cardiometabolic diseases is rising, and this fuelled by inflammation, which tends to be worse in individuals with vitamin D (VD) deficiency. While non-steroidal anti-inflammatory interventions are available, they present coagulation events. Hence, alternative therapy the form VD supplements gaining research interest. This study reviewed effect supplementation on focusing nuclear factor kappa-beta (NF-κβ), tumour necrosis factor-alpha (TNF-α) monocyte chemoattractant protein-1 (MCP-1) across different disease. Thirty-seven studies, 16 rodent models 21 clinical studies were evaluated. considered evidence from understand these markers inflammation its translatability studies. potential benefits notable rodents, effects less consistent Notably, showed a more pronounced impact reducing NF-κβ TNF-α; however, trials reported conflicting findings. Furthermore, was important MCP-1 models; partially demonstrated trials. Based findings, modulates disease inhibiting activation suppressing production TNF-α MCP-1. Although has some possible models, findings limited. presented calls for further randomised controlled assess patients living conditions as curb risk thereof. Future should also focus exploring dose-response, optimal dose, duration intervention among that may offer inflammation.

Language: Английский

Citations

1

South Asian Working Action Group on SARCOpenia (SWAG-SARCO) – A consensus document DOI Creative Commons
Minakshi Dhar, Nitin Kapoor, Ketut Suastika

et al.

Osteoporosis and Sarcopenia, Journal Year: 2022, Volume and Issue: 8(2), P. 35 - 57

Published: May 25, 2022

The South Asian population is rapidly ageing and sarcopenia likely to become a huge burden in this region if proper action not taken time. Several guidelines are available, from the western world East Asia. However, these fully relevant for healthcare ecosystem. Asia ethnically, culturally, phenotypically unique. Additionally, seeing an increase non-communicable lifestyle disease obesity. Both conditions can lead sarcopenia. secondary sarcopenic obesity either dealt with detail or missing other guidelines. Hence, we present consensus on screening, diagnosis management of sarcopenia, which addresses gaps current This gives equal importance muscle function, strength, mass; provides cost-effective clinical easy implement solutions; highlights obesity; lists commonly used biomarkers; reminds us that osteo-arthro-muscular triad should be seen as single entity address sarcopenia; stresses prevention over treatment; prioritizes non-pharmacological pharmacological management. As literature scarce region, authors call more research guided interventions.

Language: Английский

Citations

37

Natural products: Potential therapeutic agents to prevent skeletal muscle atrophy DOI
Aarti Yadav, Surender Singh Yadav, Sandeep Singh

et al.

European Journal of Pharmacology, Journal Year: 2022, Volume and Issue: 925, P. 174995 - 174995

Published: May 4, 2022

Language: Английский

Citations

33

Knowledge, Attitude and Practices Toward Coronavirus Disease (COVID- 19) in Southeast and South Asia: A Mixed Study Design Approach DOI Creative Commons
Mohammad Meshbahur Rahman, Roy Rillera Marzo, Shanjida Chowdhury

et al.

Frontiers in Public Health, Journal Year: 2022, Volume and Issue: 10

Published: June 21, 2022

Background Coronavirus has spread to almost every country since its emergence in Wuhan, China and countries have been adopted an array of measures control the rapid epidemic. Here, we aimed assess person's knowledge, attitude practices (KAP) toward COVID-19 epidemic Southeast South Asia applying mixed study design (cross-sectional systematic review). Methods In cross-sectional study, 743 respondents' socio-demographic KAP-related information was collected through online population-based survey from Malaysian population. review, database PubMed, Web Science Google Scholar search engine were searched related published articles included. Frequency distribution, Chi-square association test binary logistic regression fitted using data whereas random effect model bias performed meta-analysis. We used 95% confidence interval P <0.05 as statistical significances. Results The prevalence good positive frequent practice 52.6%, 51.8% 57.1%, respectively, obtained by analysis. KAP ranged 26.53% (Thailand) 95.4% (Nepal); 59.3% (Turkey) 92.5% (Pakistan); 50.2 97% (Afghanistan), 18 studies included higher [84% vs. 79%, heterogeneity <0.001; 83% 80%, 85% 83%, <0.001] compared Asia, subgroup Some reported mean level instead proportion where score varied 8.15–13.14; 2.33–33.0; 1.97–31.03, respectively. Having more knowledge encouraged likely COVID-19. Study suggests age, gender, education, place residence occupation most significant risk factors Conclusion sufficiently informs how other enriches their behaviors during pandemic which may help health professionals policymakers develop targeted interventions effective practices.

Language: Английский

Citations

32

The Role of Vitamin D on the Wound Healing Process: A Case Series DOI Creative Commons
Fitri Dona Siregar, Wahyu Hidayat

International Medical Case Reports Journal, Journal Year: 2023, Volume and Issue: Volume 16, P. 227 - 232

Published: March 31, 2023

Introduction: Vitamin D is an essential steroid hormone that consists of two forms, namely vitamin D2 (ergocalciferol) and D3 (cholecalciferol), which can be obtained from exposure to sunlight, synthesis in the skin, food dietary supplements. Prevalence deficiency several countries including Indonesia still high, while role very important accelerating wound healing process, increasing immune system, anti-inflammatory, anti-bacterial. Purpose: This case report aims find out wound-healing process oral mucosa. Case Reports: Two men went Oral Disease Clinic with complaints canker sores on mucosa for more than a month accompanied by pain. Intra-oral condition first patient showed multiple ulcers yellowish white base surrounded erythematous areas, well-defined, irregular size 1.5 × 1 cm 0.5 right left buccal mucosa, intra-oral second patient, single ulcer was found colour area, oval measuring 3x1 cm, clearly demarcated induration. Results: Laboratory examination both patients decreased levels values 28.7 9.8 ng/mL. Conclusion: supplementation has shown effectiveness processes Keywords: D, role, healing, mouth ulceration

Language: Английский

Citations

23