Search Results
Search for other papers by Sarah Bakhamis in
Google Scholar
PubMed
Search for other papers by Faiqa Imtiaz in
Google Scholar
PubMed
Search for other papers by Khushnooda Ramzan in
Google Scholar
PubMed
Search for other papers by Edward De Vol in
Google Scholar
PubMed
Search for other papers by Osamah Al-Sagheir in
Google Scholar
PubMed
Search for other papers by Abdulrahman Al-Rajhi in
Google Scholar
PubMed
Search for other papers by Abdullah Alashwal in
Google Scholar
PubMed
Search for other papers by Bassam Bin Abbas in
Google Scholar
PubMed
Search for other papers by Nadia Sakati in
Google Scholar
PubMed
Search for other papers by Afaf Al-Sagheir in
Google Scholar
PubMed
Vitamin D deficiency remains a major cause of rickets worldwide. Nutritional factors are the major cause and less commonly, inheritance causes. Recently, CYP2R1 has been reported as a major factor for 25-hydroxylation contributing to the inherited forms of vitamin D deficiency. We conducted a prospective cohort study at King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia, to review cases with 25-hydroxylase deficiency and describe their clinical, biochemical, and molecular genetic features. We analyzed 27 patients from nine different families who presented with low 25-OH vitamin D and not responding to usual treatment. Genetic testing identified two mutations: c.367+1G>A (12/27 patients) and c.768dupT (15/27 patients), where 18 patients were homozygous for their identified mutation and 9 patients were heterozygous. Both groups had similar clinical manifestations ranging in severity, but none of the patients with the heterozygous mutation had hypocalcemic manifestations. Thirteen out of 18 homozygous patients and all the heterozygous patients responded to high doses of vitamin D treatment, but they regressed after decreasing the dose, requiring lifelong therapy. Five out of 18 homozygous patients required calcitriol to improve their biochemical data, whereas none of the heterozygous patients and patients who carried the c.367+1G>A mutation required calcitriol treatment. To date, this is the largest cohort series analyzing CYP2R1-related 25-hydroxylase deficiency worldwide, supporting its major role in 25-hydroxylation of vitamin D. It is suggested that a higher percentage of CYP2R1 mutations might be found in the Saudi population. We believe that our study will help in the diagnosis, treatment, and prevention of similar cases in the future.
CEB – Centro de Engenharia Biológica, Universidade do Minho, Braga, Portugal
Search for other papers by Cecília Cristelo in
Google Scholar
PubMed
Search for other papers by Alexandra Machado in
Google Scholar
PubMed
CESPU, Instituto de Investigação e Formação Avançada em Ciências e Tecnologias da Saúde & Instituto Universitário de Ciências da Saúde, Gandra, Portugal
Search for other papers by Bruno Sarmento in
Google Scholar
PubMed
Search for other papers by Francisco Miguel Gama in
Google Scholar
PubMed
Type 1 diabetes has an increasingly greater incidence and prevalence with no cure available. Vitamin D supplementation is well documented to reduce the risk of developing type 1 diabetes. Being involved in the modulation of cathelicidin expression, the question whether cathelicidin may be one of the underlying cause arises. Cathelicidin has been implicated in both the development and the protection against type 1 diabetes by mediating the interplay between the gut microbiome, the immune system and β cell function. While its potential on type 1 diabetes treatment seems high, the understanding of its effects is still limited. This review aims to contribute to a more comprehensive understanding of the potential of vitamin D and cathelicidin as adjuvants in type 1 diabetes therapy.
Department of Nutritional Sciences, University of Toronto, Toronto, Canada
Search for other papers by Monika Bilic in
Google Scholar
PubMed
Department of Nutritional Sciences, University of Toronto, Toronto, Canada
Search for other papers by Huma Qamar in
Google Scholar
PubMed
Search for other papers by Akpevwe Onoyovwi in
Google Scholar
PubMed
Search for other papers by Jill Korsiak in
Google Scholar
PubMed
Search for other papers by Eszter Papp in
Google Scholar
PubMed
Search for other papers by Abdullah Al Mahmud in
Google Scholar
PubMed
Molecular and Medical Genetics, University of Toronto, Toronto, Canada
Department of Paediatrics, Hospital for Sick Children and University of Toronto, Toronto, Canada
Search for other papers by Rosanna Weksberg in
Google Scholar
PubMed
Search for other papers by Alison D Gernand in
Google Scholar
PubMed
Search for other papers by Jennifer Harrington in
Google Scholar
PubMed
Department of Nutritional Sciences, University of Toronto, Toronto, Canada
Department of Paediatrics, Hospital for Sick Children and University of Toronto, Toronto, Canada
Search for other papers by Daniel E Roth in
Google Scholar
PubMed
Fetal growth restriction is linked to adverse health outcomes and is prevalent in low- and middle-income countries; however, determinants of fetal growth are still poorly understood. The objectives were to determine the effect of prenatal vitamin D supplementation on the insulin-like growth factor (IGF) axis at birth, to compare the concentrations of IGF-I in newborns in Bangladesh to a European reference population and to estimate the associations between IGF protein concentrations and birth size. In a randomized controlled trial in Dhaka, Bangladesh, pregnant women enrolled at 17–24 weeks of gestation were assigned to weekly oral vitamin D3 supplementation from enrolment to delivery at doses of 4200 IU/week, 16,800 IU/week, 28,000 IU/week or placebo. In this sub-study, 559 woman–infant pairs were included for analysis and cord blood IGF protein concentrations were quantified at birth. There were no significant effects of vitamin D supplementation on cord blood concentrations of IGF-I (P = 0.398), IGF-II (P = 0.525), binding proteins (BPs) IGFBP-1 (P = 0.170), IGFBP-3 (P = 0.203) or the molar ratio of IGF-I/IGFBP-3 (P = 0.941). In comparison to a European reference population, 6% of girls and 23% of boys had IGF-I concentrations below the 2.5th percentile of the reference population. IGF-I, IGF-II, IGFBP-3 and the IGF-I/IGFBP-3 ratio were positively associated with at least one anthropometric parameter, whereas IGFBP-1 was negatively associated with birth anthropometry. In conclusion, prenatal vitamin D supplementation does not alter or enhance fetal IGF pathways.
Search for other papers by Changwei Liu in
Google Scholar
PubMed
Search for other papers by Jingwen Wang in
Google Scholar
PubMed
Search for other papers by Yuanyuan Wan in
Google Scholar
PubMed
Search for other papers by Xiaona Xia in
Google Scholar
PubMed
Search for other papers by Jian Pan in
Google Scholar
PubMed
Search for other papers by Wei Gu in
Google Scholar
PubMed
Search for other papers by Mei Li in
Google Scholar
PubMed
Background
To investigate the relationship 25-hydroxy vitamin D (25OHD) level among children and in children with type 1 diabetes mellitus (T1DM).
Methods
A case–control study was conducted to compare the serum 25OHD levels between cases and controls. This study recruited 296 T1DM children (106 newly diagnosed T1DM patients and 190 established T1DM patients), and 295 age- and gender-matched healthy subjects as controls.
Results
The mean serum 25OHD in T1DM children was 48.69 ± 15.26 nmol/L and in the controls was 57.93 ± 19.03 nmol/L. The mean serum 25OHD in T1DM children was lower than that of controls (P < 0.01). The mean serum 25OHD level (50.42 ± 14.74 nmol/L) in the newly diagnosed T1DM children was higher than that (47.70 ± 15.50 nmol/L) in the established T1DM children but the difference was not statistically significant (P = 0.16). HbA1c values were associated with 25OHD levels in established T1DM children (r = 0.264, P < 0.01), and there was no association between 25OHD and HbA1c in newly diagnosed T1DM children (r = 0.164; P > 0.05).
Conclusion
Vitamin D deficiency is common in T1DM children, and it should be worthy of attention on the lack of vitamin D in established T1DM children.
St Michael's Hospital, Metabolism Laboratory, School of Medicine and Medical Sciences, Dún Laoghaire, Dublin, Ireland
St Michael's Hospital, Metabolism Laboratory, School of Medicine and Medical Sciences, Dún Laoghaire, Dublin, Ireland
Search for other papers by Malachi J McKenna in
Google Scholar
PubMed
Search for other papers by Barbara F Murray in
Google Scholar
PubMed
Objective
The recommended daily intakes of vitamin D according to the recent Clinical Practice Guideline (CPG) of the Endocrine Society are three- to fivefold higher than the Institute of Medicine (IOM) report. We speculated that these differences could be explained by different mathematical approaches to the vitamin D dose response.
Methods
Studies were selected if the daily dose was ≤2000 IU/day, the duration exceeded 3 months, and 25-hydroxyvitamin D (25OHD) concentrations were measured at baseline and post-therapy. The rate constant was estimated according to the CPG approach. The achieved 25OHD result was estimated according to the following: i) the regression equation approach of the IOM; ii) the regression approach of the Vitamin D Supplementation in Older Subjects (ViDOS) study; and iii) the CPG approach using a rate constant of 2.5 (CPG2.5) and a rate constant of 5.0 (CPG5.0). The difference between the expected and the observed 25OHD result was expressed as a percentage of observed and analyzed for significance against a value of 0% for the four groups.
Results
Forty-one studies were analyzed. The mean (95% CI) rate constant was 5.3 (4.4–6.2) nmol/l per 100 IU per day, on average twofold higher than the CPG rate constant. The mean (95% CI) for the difference between the expected and observed expressed as a percentage of observed was as follows: i) IOM, −7 (−16,+2)% (t=1.64, P=0.110); ii) ViDOS, +2 (−8,+12)% (t=0.40, P=0.69); iii) CPG2.5, −21 (−27,−15)% (t=7.2, P<0.0001); and iv) CPG5.0+3 (−4,+10)% (t=0.91, P=0.366).
Conclusion
The CPG ‘rule of thumb’ should be doubled to 5.0 nmol/l (2.0 ng/ml) per 100 IU per day, adopting a more risk-averse position.
Search for other papers by Anna Liori in
Google Scholar
PubMed
Search for other papers by Damaskini Polychroni in
Google Scholar
PubMed
Search for other papers by Georgios K Markantes in
Google Scholar
PubMed
Search for other papers by Maria Stamou in
Google Scholar
PubMed
Search for other papers by Sarantis Livadas in
Google Scholar
PubMed
Search for other papers by George Mastorakos in
Google Scholar
PubMed
Search for other papers by Neoklis Georgopoulos in
Google Scholar
PubMed
Adequate vitamin D levels are particularly important in pregnant women for both maternal and neonatal health. Prior studies have shown a significantly high prevalence of vitamin D deficiency (VDD) among refugees. However, no study has addressed the prevalence of VDD in pregnant refugees and its effects on neonatal health. In this study, we examined the prevalence of VDD in refugee pregnant women living in Greece and compared our results with Greek pregnant inhabitants. VDD was frequent in both groups but was significantly more common in refugees (92.2 vs 67.3% of Greek women, P = 0.003) with 70.6% of refugees having severe hypovitaminosis D (<10 ng/mL). As a result, most newborns had VDD, which affected refugee newborns to a greater extent. Our results suggest a need to screen newcomer children and pregnant women for VDD in all host countries around the world. Such a screen will appropriately guide early and effective interventions with the goal to prevent adverse neonatal and maternal outcomes.
Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, California, USA
Search for other papers by Alexander V Amram in
Google Scholar
PubMed
Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, California, USA
Search for other papers by Stephen Cutie in
Google Scholar
PubMed
Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, California, USA
Search for other papers by Guo N Huang in
Google Scholar
PubMed
Research conducted across phylogeny on cardiac regenerative responses following heart injury implicates endocrine signaling as a pivotal regulator of both cardiomyocyte proliferation and heart regeneration. Three prominently studied endocrine factors are thyroid hormone, vitamin D, and glucocorticoids, which canonically regulate gene expression through their respective nuclear receptors thyroid hormone receptor, vitamin D receptor, and glucocorticoid receptor. The main animal model systems of interest include humans, mice, and zebrafish, which vary in cardiac regenerative responses possibly due to the differential onsets and intensities of endocrine signaling levels throughout their embryonic to postnatal organismal development. Zebrafish and lower vertebrates tend to retain robust cardiac regenerative capacity into adulthood while mice and other higher vertebrates experience greatly diminished cardiac regenerative potential in their initial postnatal period that is sustained throughout adulthood. Here, we review recent progress in understanding how these three endocrine signaling pathways regulate cardiomyocyte proliferation and heart regeneration with a particular focus on the controversial findings that may arise from different assays, cellular-context, age, and species. Further investigating the role of each endocrine nuclear receptor in cardiac regeneration from an evolutionary perspective enables comparative studies between species in hopes of extrapolating the findings to novel therapies for human cardiovascular disease.
Search for other papers by Søs Dragsbæk Larsen in
Google Scholar
PubMed
Department of Public Health, Environmental Medicine, University of Southern Denmark, Odense, Denmark
Search for other papers by Christine Dalgård in
Google Scholar
PubMed
Search for other papers by Mathilde Egelund Christensen in
Google Scholar
PubMed
Search for other papers by Sine Lykkedegn in
Google Scholar
PubMed
Department of Obstetrics and Gynecology, Herlev Hospital, Copenhagen, Denmark
Search for other papers by Louise Bjørkholt Andersen in
Google Scholar
PubMed
Department of Medical Endocrinology, Odense University Hospital, Odense, Denmark
Search for other papers by Marianne Andersen in
Google Scholar
PubMed
Search for other papers by Dorte Glintborg in
Google Scholar
PubMed
Hans Christian Andersen Children’s Hospital, Odense University Hospital, Odense, Denmark
Search for other papers by Henrik Thybo Christesen in
Google Scholar
PubMed
Background
Low foetal vitamin D status may be associated with higher blood pressure (BP) in later life.
Objective
To examine whether serum 25-hydroxyvitamin D2+3 (s-25OHD) in cord and pregnancy associates with systolic and diastolic BP (SBP; DBP) in children up to 3 years of age.
Design
Prospective, population-based cohort study.
Methods
We included 1594 singletons from the Odense Child Cohort with available cord s-25OHD and BP data at median age 3.7 months (48% girls), 18.9 months (44% girls) or 3 years (48% girls). Maternal s-25OHD was also assessed at gestational ages 12 and 29 weeks. Multiple regression models were stratified by sex a priori and adjusted for maternal educational level, season of birth and child height, weight and age.
Results
In 3-year-old girls, SBP decreased with −0.7 mmHg (95% CI −1.1; −0.3, P = 0.001) and DBP with −0.4 mmHg (95% CI −0.7; −0.1, P = 0.016) for every 10 nmol/L increase in cord s-25OHD in adjusted analyses. Moreover, the adjusted odds of having SBP >90th percentile were reduced by 30% for every 10 nmol/L increase in cord s-25OHD (P = 0.004) and by 64% for cord s-25OHD above the median 45.1 nmol/L (P = 0.02). Similar findings were observed between pregnancy s-25OHD and 3-year SBP, cord s-25OHD and SBP at 18.9 months, and cord s-25OHD and DBP at 3 years. No consistent associations were observed between s-25OHD and BP in boys.
Conclusion
Cord s-25OHD was inversely associated with SBP and DBP in young girls, but not in boys. Higher vitamin D status in foetal life may modulate BP in young girls. The sex difference remains unexplained.
Search for other papers by Fabienne A U Fox in
Google Scholar
PubMed
University for Health Sciences, Medical Informatics and Technology (UMIT TIROL), Tirol, Austria
Search for other papers by Lennart Koch in
Google Scholar
PubMed
Institute for Medical Biometry, Informatics and Epidemiology (IMBIE), Faculty of Medicine, University of Bonn, Bonn, Germany
Search for other papers by Monique M B Breteler in
Google Scholar
PubMed
Department of Neurology, Faculty of Medicine, University of Bonn, Bonn, Germany
Search for other papers by N Ahmad Aziz in
Google Scholar
PubMed
Objective
Maintaining muscle function throughout life is critical for healthy ageing. Although in vitro studies consistently indicate beneficial effects of 25-hydroxyvitamin D (25-OHD) on muscle function, findings from population-based studies remain inconclusive. We therefore aimed to examine the association between 25-OHD concentration and handgrip strength across a wide age range and assess potential modifying effects of age, sex and season.
Methods
We analysed cross-sectional baseline data of 2576 eligible participants out of the first 3000 participants (recruited from March 2016 to March 2019) of the Rhineland Study, a community-based cohort study in Bonn, Germany. Multivariate linear regression models were used to assess the relation between 25-OHD levels and grip strength while adjusting for age, sex, education, smoking, season, body mass index, physical activity levels, osteoporosis and vitamin D supplementation.
Results
Compared to participants with deficient 25-OHD levels (<30 nmol/L), grip strength was higher in those with inadequate (30 to <50 nmol/L) and adequate (≥50 to ≤125 nmol/L) levels (ß inadequate = 1.222, 95% CI: 0.377; 2.067, P = 0.005; ß adequate = 1.228, 95% CI: 0.437; 2.019, P = 0.002). Modelling on a continuous scale revealed grip strength to increase with higher 25-OHD levels up to ~100 nmol/L, after which the direction reversed (ß linear = 0.505, 95% CI: 0.179; 0.830, P = 0.002; ß quadratic = –0.153, 95% CI: –0.269; -0.038, P = 0.009). Older adults showed weaker effects of 25-OHD levels on grip strength than younger adults (ß 25OHDxAge = –0.309, 95% CI: –0.594; –0.024, P = 0.033).
Conclusions
Our findings highlight the importance of sufficient 25-OHD levels for optimal muscle function across the adult life span. However, vitamin D supplementation should be closely monitored to avoid detrimental effects.
Search for other papers by Sofya Gronskaia in
Google Scholar
PubMed
Search for other papers by Galina Melnichenko in
Google Scholar
PubMed
Search for other papers by Liudmila Rozhinskaya in
Google Scholar
PubMed
Search for other papers by Tatiana Grebennikova in
Google Scholar
PubMed
Search for other papers by Elizaveta Mamedova in
Google Scholar
PubMed
Search for other papers by Ekaterina Pigarova in
Google Scholar
PubMed
Search for other papers by Elena Przhialkovskaya in
Google Scholar
PubMed
Search for other papers by Larisa Dzeranova in
Google Scholar
PubMed
Search for other papers by Ivan Dedov in
Google Scholar
PubMed
Search for other papers by Valentin Fadeyev in
Google Scholar
PubMed
Search for other papers by Maria Luisa Brandi in
Google Scholar
PubMed
Search for other papers by Zhanna Belaya in
Google Scholar
PubMed
Hypoparathyroidism and pseudohypoparathyroidism are rare endocrine disorders, characterized by low serum calcium due to inappropriate parathyroid hormone (PTH) levels or resistance to its action. There is little epidemiological information regarding chronic hypoparathyroidism in Russia. This study aims to build a registry database of Russian patients with chronic hypoparathyroidism who were referred for hospital treatment in order to conduct initial analysis of clinical presentations and hospital management. The Italian registry model was taken to be able to integrate our data in the future. Two hundred patients with hypoparathyroidism (n = 194) and pseudohypoparathyroidism (n = 6) were enrolled over 2 years (2017–2019). The most frequent cause of hypoparathyroidism was neck surgery (82.5%, mostly females), followed by idiopathic hypoparathyroidism (10%), syndromic forms of genetic hypoparathyroidism (4.5%) and forms of defective PTH action (3%). Calcium supplements and alfacalcidol were prescribed in most cases. However, a minority of patients (n = 6) needed to receive teriparatide as the only way to maintain calcium levels and to prevent symptoms of hypocalcemia. Consequently, substitution treatment with parathyroid hormone should be available in certain cases of hypoparathyroidism. This database will be useful to estimate the potential requirement for recombinant PTH in Russia and standards for clinical and therapeutic approaches.
