scholarly journals 25-Hydroxylase vitamin D deficiency in 27 Saudi Arabian subjects: a clinical and molecular report on CYP2R1 mutations

2021 ◽  
Author(s):  
Sarah Bakhamis ◽  
Faiqa Imtiaz ◽  
Khushnooda Ramzan ◽  
Edward De Vol ◽  
Osamah AlSagheir ◽  
...  
Keyword(s):  
Vitamin D ◽  
Vitamin D Deficiency ◽  
Molecular Genetic ◽  
Clinical Manifestations ◽  
Research Centre ◽  
Heterozygous Mutation ◽  
Hydroxylase Deficiency ◽  
Treatment And Prevention ◽  
Genetic Features ◽  
High Doses

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 to describe their clinical, biochemical, and molecular genetic features. We analyzed 27 patients from 9 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 heterozygous mutation had hypocalcemic manifestations. 13/18 of 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. 5/18 of 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 analyzeing 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.

The roles of vitamin D in increasing the body's immunity and reducing injuries due to viral infections: With an emphasis on its possible role in SARS-CoV-2 (COVID-19)

2021 ◽  
Vol 27 ◽  
Author(s):  
Elahe Aleebrahim-Dehkordi ◽  
Niloofar Deravi ◽  
Shirin Yaghoobpoor ◽  
Dariush Hooshyar ◽  
Mahmoud Rafieian-Kopaei
Keyword(s):  
Vitamin D ◽  
Immune System ◽  
Vitamin D Deficiency ◽  
Viral Infections ◽  
Vitamin D Supplementation ◽  
Angiotensin Converting Enzyme 2 ◽  
Treatment And Prevention ◽  
Lung Injuries ◽  
Novel Coronavirus ◽  
Cytochrome P450 Family

Background: It is known that Vitamin D can increase the body’s immunity against some viral infections. Many people around the world have vitamin D deficiency and, therefore, this has become a public concern whether vitamin D is an important factor protecting against COVID-19 infection. In this paper, the data about the roles of vitamin D on immunity and recovery from viral infections, especially novel Coronavirus disease (COVID-19) is reviewed. Methods: The electronic databases of Pubmed, Google Scholar, Research Gate, Excerpta Media Database (EMBASE) and Medical and Health Education (Medrix) were searched. Results: Vitamin D is considered an important factor in immune homeostasis. Various effects have been considered for this nutrient on the immune system, particularly because of vitamin D receptor (VDR) and Cytochrome P450 Family 27 Subfamily B Member 1 (CYP27B1) expression in most of the immune cells. Vitamin D can raise cellular immunity, reduce cytokine storm and enhance antioxidants production. It also has modulatory effects on Angiotensin-converting enzyme 2 (ACE2) receptors and might have protective functions against acute lung injuries, including COVID-19 infection. However, there are some articles against this positive effect. Conclusion: Vitamin D supplementation is reported to be effective in the enhancement of the immune system and might be effective in the treatment and prevention of COVID-19 infection, especially in those with its deficiency. However, it should be considered that vitamin D deficiency shows the overall health status of the patients and cannot be considered specific for COVID-19 infection.

scholarly journals To Supplement or not to Supplement? The Rationale of Vitamin D Supplementation in Systemic Lupus Erythematosus

2018 ◽  
Vol 12 (1) ◽  
pp. 226-247 ◽  
Author(s):  
Alessandra Nerviani ◽  
Daniele Mauro ◽  
Michele Gilio ◽  
Rosa Daniela Grembiale ◽  
Myles J. Lewis
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Vitamin D ◽  
Vitamin D Deficiency ◽  
Lupus Erythematosus ◽  
Clinical Manifestations ◽  
Vitamin D Supplementation ◽  
Current Evidence ◽  
Systemic Lupus ◽  
Vitamin D Receptors ◽  
Vitamin D Levels

Background: Systemic Lupus Erythematosus (SLE) is a systemic autoimmune disease characterised by abnormal activation of the immune system, chronic inflammation and organ damage. Lupus patients are more prone to be vitamin D deficient. However, current evidence is not conclusive with regards to the role played by vitamin D in SLE development, progression, and clinical manifestations. Objective: Here, we will summarise the current knowledge about vitamin D deficiency prevalence, risk factors, molecular effects, and potential pathogenic role in SLE. We will focus on the link between vitamin D deficiency and lupus clinical manifestations, and on the clinical trials assessing the effects of vitamin D supplementation in SLE. Method: A detailed literature search was performed exploiting the available databases, using “vitamin D and lupus/SLE” as keywords. The relevant interventional trials published over the last decade have been considered and the results are reported here. Conclusion: Several immune cells express vitamin D receptors. Thus, an immunomodulatory role for vitamin D in lupus is plausible. Numerous observational studies have investigated the relationship between vitamin D levels and clinical/serological manifestations of SLE with contrasting results. Negative correlations between vitamin D levels and disease activity, fatigue, renal and cardiovascular disease, and anti-dsDNA titres have been described but not conclusively accepted. In experimental models of lupus, vitamin D supplementation can improve the disease. Interventional trials have assessed the potential therapeutic value of vitamin D in SLE, but further larger studies are needed.

scholarly journals Molecular-genetic, immunological bases and prophylaxis of diabetes mellitus in children

2011 ◽  
Vol 57 (1) ◽  
pp. 9-18
Author(s):  
E V Titovich
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Type 1 Diabetes Mellitus ◽  
Molecular Genetic ◽  
Clinical Manifestations ◽  
Russian Population ◽  
Research Centre ◽  
Diabetic Patients ◽  
Genetic Studies

Since the autoimmune nature of type 1 diabetes mellitus came to become known some 40 years ago, continuous investigations have been carried out in an attempt to improve approaches to prognostication of this disease and develop new safe and efficacious methods for its prevention. For all that, many aspects of diabetes pathogenesis still remain far from clear. In most cases (roughly 85%), type 1 diabetes mellitus (DM1) develops sporadically in the absence of a relevant familial or hereditary history of this condition. Accordingly, the first-degree relatives account for only 15% of all DM1 patients. The risk of development of DM1 in the Russian population estimated by the researchers of the Children' Department, Endocrinological Research Centre, is relatively low (0.2%). It depends on many factors, such as the number of ill and healthy relatives, the chronological age of a given patient and the age of onset of clinical manifestations in his (her) relatives. Type 1 diabetes-predisposing and protective haplotypes were identified in the Russian population based on the results of molecular-genetic studies involving 599 children and adolescents with DM1. These and immunological data were used to distinguish between risk groups in the families of diabetic patients and the rationale was proposed for the dynamic follow-up of these subjects. It is concluded that estimation of the risk of type 1 diabetes mellitus based on the results of molecular-genetic studies and monitoring immunological markers constitutes the first step in the elaboration of preventive measures designed to prevent or delay the development of the disease.

scholarly journals Vitamin D in schizophrenia and depression: a clinical review

2019 ◽  
Vol 25 (4) ◽  
pp. 240-248 ◽  
Author(s):  
John Lally ◽  
Fiona Gaughran
Keyword(s):  
Vitamin D ◽  
Mental Disorders ◽  
Physical Health ◽  
Vitamin D Deficiency ◽  
Vitamin D Supplementation ◽  
Research Centre ◽  
List Type ◽  
Potential Association ◽  
Health And Social Care ◽  
Randomised Controlled

SUMMARYEvidence from preclinical and clinical studies supports a role for vitamin D deficiency in many mental disorders. In this review, we discuss the role of vitamin D in the aetiology and treatment of schizophrenia and depression and their physical health comorbidities. Although observational studies support a potential association between vitamin D and schizophrenia and depression, sufficient high-quality evidence from clinical trials does not yet exist to establish a place for vitamin D supplementation in optimising clinical response or promoting physical health. Completed randomised controlled trials are needed to provide insights into the efficacy and safety of vitamin D in the management of mental disorders.LEARNING OBJECTIVESAfter reading this article you will be able to: •outline the epidemiology of vitamin D deficiency in schizophrenia•describe the associations of vitamin D with schizophrenia and depression•know how to assess, and consider treatment for, vitamin D deficiency.DECLARATION OF INTERESTF.G. has received support or honoraria for CME, advisory work and lectures from Bristol-Myers Squibb, Janssen, Lundbeck, Otsuka, Roche and Sunovion, and has a family member with professional links to Lilly and GSK, including shares. She is in part funded by the National Institute for Health Research's (NIHR) Biomedical Research Centre at South London and Maudsley NHS Foundation Trust and King's College London and the South London Collaboration for Leadership in Applied Health Research & Care Funding scheme, and by the Maudsley Charity. The views expressed in this article are those of the authors and not necessarily those of the NHS, the NIHR or the Department of Health and Social Care.

The anti-thrombotic effects of vitamin D and their possible relationship with antiphospholipid syndrome

Lupus ◽  
2018 ◽  
Vol 27 (14) ◽  
pp. 2181-2189 ◽  
Author(s):  
M García-Carrasco ◽  
E A Jiménez-Herrera ◽  
J L Gálvez-Romero ◽  
C Mendoza-Pinto ◽  
S Méndez-Martínez ◽  
...  
Keyword(s):  
Vitamin D ◽  
Vitamin D Deficiency ◽  
Antiphospholipid Syndrome ◽  
Inflammatory Diseases ◽  
Clinical Manifestations ◽  
Serum Levels ◽  
Protective Role ◽  
Current Data ◽  
Current Evidence ◽  
Autoimmune Conditions

The importance of the immunomodulatory effects of vitamin D has recently been associated with autoimmune and chronic inflammatory diseases. Vitamin D deficiency has been linked to the development of autoimmune conditions. Antiphospholipid syndrome is an autoimmune disease characterized by thrombotic events and obstetric complications in patients with antiphospholipid antibodies. Current data show that patients with antiphospholipid syndrome have a high prevalence of vitamin D deficiency even without classic risk factors. Several studies have suggested vitamin D may have anti-thrombotic functions. In antiphospholipid syndrome, low vitamin D serum levels have been associated with thrombotic manifestations, suggesting a possible protective role of vitamin D in antiphospholipid syndrome. This literature review presents current evidence on the haemostatic functions of vitamin D and their possible relationship with the clinical manifestations of antiphospholipid syndrome.

scholarly journals Combination of lipoatrophic diabetes mellitus with systemic scleroderma and phenylketonuria

2017 ◽  
Vol 63 (2) ◽  
pp. 130-133
Author(s):  
Galina N. Svetlova ◽  
Tamara L. Kuraeva ◽  
Dmitriy L. Alekseev ◽  
Valentina A. Peterkova
Keyword(s):  
Diabetes Mellitus ◽  
Molecular Genetic ◽  
Clinical Manifestations ◽  
Molecular Genetic Analysis ◽  
Systemic Scleroderma ◽  
Dietary Regimen ◽  
Insulin Resistant ◽  
Lipoatrophic Diabetes ◽  
Liver Functions ◽  
High Doses

We present the first report of a rare form of lipoatrophic diabetes mellitus in a child with partial autoimmune lipodystrophy combined with systemic scleroderma and phenylketonuria. We describe the features of clinical manifestations, diagnosis, and therapy. To exclude the monogenic form of lipodystrophy, we performed a molecular genetic analysis of genes ZMPSTE24, LMNA, BSCL2, PLIN1, PTRF, LMNB2, POLD1, AKT2, CIDEC, PIK3CA, PPARG, PSMB8, CAV1, PPP1R3A, and AGPAT2 that are responsible for the development of lipodystrophy and insulin resistance. No mutations were found. The presence of systemic scleroderma of autoimmune genesis enabled the diagnosis of autoimmune lipodystrophy. Treatment of insulin-resistant diabetes mellitus in lipodystrophy is a challenge: biguanide therapy is dangerous due to impairment of liver functions, and insulin therapy is not effective enough; administration of high doses is required. The presence of phenylketonuria further complicates compliance with the dietary regimen. The combination of three rare diseases ― lipoatrophic diabetes, phenylketonuria, and systemic scleroderma ― in one patient has not been found in the available literature.

scholarly journals Symptomatic Hypocalcemiain Neonates Due to Maternal Hypovitaminosis D in Rural Tertiary Care Center: A Case Series

2021 ◽  
pp. 81-87
Author(s):  
Nitin S. Lingayat ◽  
Saloni Manwani ◽  
Bratati S. Mishra
Keyword(s):  
Vitamin D ◽  
Vitamin D Deficiency ◽  
Complete Blood Count ◽  
Care Center ◽  
Tertiary Care ◽  
Clinical Manifestations ◽  
Case Series ◽  
Hypovitaminosis D ◽  
Vitamin D Supplementation ◽  
Suspected Sepsis

Vitamin D deficiency in neonates is not uncommon and is characterized by severe hypocalcemic symptoms. In babies with poor vitamin D resources, calcium, phosphorus, and homeostasis are affected, leading to neonatal hypocalcaemia clinical manifestations. Newborn babies with vitamin D deficiency are at risk of deficiency and hypocalcaemia. Therefore, vitamin D supplementation in pregnant and lactating mothers should be routinely considered. Of newborns with symptomatic hypocalcaemia admitted in Level III NICU in the rural part of western Maharashtra from October 2019 to September 2020 were reviewed. These babies were admitted to NICU due to several illnesses, including suspected sepsis, tachypnea, jaundice, etc. They were investigated for sepsis screen including Complete Blood count, CRP, Blood culture, CSF analysis. Cranial USG through anterior fontanelle and Neuro imaging and Electroencephalogram were done wherever necessary. This study intends to highlight the manifestation of maternal hypovitaminosis D on the mother and its effects on the neonate. Maternal hypovitaminosis leads to neonatal hypovitaminosis D and can present as hypocalcaemia.

scholarly journals A Retrospective Study of Nine Patients with Progressive Pseudorheumatoid Dysplasia: To Explore Early Diagnosis and Further Treatment

2021 ◽  
Author(s):  
Lei Yin ◽  
Youying Mao ◽  
Yunfang Zhou ◽  
Yongnian shen ◽  
Huijin Chen ◽  
...  
Keyword(s):  
Vitamin D ◽  
Retrospective Study ◽  
Vitamin D Deficiency ◽  
Clinical Manifestations ◽  
Normal Range ◽  
Radiographic Findings ◽  
Progressive Pseudorheumatoid Dysplasia ◽  
Abnormal Gait ◽  
Laboratory Test Results ◽  
Vertebral Bodies

Abstract Background: Most patients with progressive pseudorheumatoid dysplasia (PPRD) are initially misdiagnosed because of disease rarity and lack of awareness by most clinicians. The purpose of this present study was to provide further early diagnostic options and potential treatment to patients with PPRD. Methods: This was a retrospective study. Clinical manifestations, laboratory test results, radiographic features, Sanger Sequencing to determine CCN6 gene variants, treatment and follow-up records were collected in the patients with PPRD. Time to diagnosis, phenotype and genotype correlation were analyzed. Results: Nine PPRD children were included. There were 3 pairs of siblings and one patient had parental consanguinity. Five patients were misdiagnosed as juvenile idiopathic arthritis (JIA). The onset of disease in 8 patients was between 3 to 6 years of age. The interval from onset of symptoms to obtaining the diagnosis for 8 of the patients varied from 3.6 years to 20 years. The onset of symptoms included enlarged and stiff interphalangeal joints of the fingers, gait disturbance or joint pain. Laboratory tests revealed normal range of inflammatory parameters. Serum levels of 25-hydroxyvitamin D3 in six patients were below the normal range. Radiographic findings included different degree of abnormal vertebral bodies, epiphyseal enlargement of the interphalangeal joints with juxta-articular osteopenia, or cyst-like structures femoral head. All the patients harbored CCN6 variants, and a total of 7 variants were identified. After the treatment of calcitriol in 5 patients with low level of 25-hydroxyvitamin D3 for 1.25 years to 1.75 years, two of them kept stable, while 3 of them improved gradually. Conclusions: Combining the patient’s family history, clinical features presenting with abnormal gait or enlarged and stiff interphalangeal joints of the fingers, normal inflammatory markers, and the characteristic radiographic findings, we can obtain the clinical diagnosis of PPRD for the patients at a very early stage of the disease. Anterior blunt of the vertebral bodies could be an early radiological sign in the patient even without obvious clinical symptoms and characteristics yet. The patients with PPRD having c.624dupA variant in CCN6 may have delayed onset. Underlying vitamin D deficiency should be sought and corrected in patients with PPRD. Keywords: progressive pseudorheumatoid dysplasia; noninflammatory; articular cartilage; CCN6 gene variant; vitamin D deficiency

Treatment and prevention of vitamin D deficiency from the perspective of personalized medicine

Pharmateca ◽  
2021 ◽  
Vol 12_2021 ◽  
pp. 100-106
Author(s):  
T.V. Tazina Tazina ◽  
T.N. Bebneva Bebneva ◽  
◽  
◽  
Keyword(s):  
Vitamin D ◽  
Personalized Medicine ◽  
Vitamin D Deficiency ◽  
Treatment And Prevention
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