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Orphanet Journal of Rare Diseases Jan 2024Combined methylmalonic acidemia and homocystinuria, cblC type is an inborn error of intracellular cobalamin metabolism and the most common one. The age of onset ranges... (Review)
Review
INTRODUCTION
Combined methylmalonic acidemia and homocystinuria, cblC type is an inborn error of intracellular cobalamin metabolism and the most common one. The age of onset ranges from prenatal to adult. The disease is characterised by an elevation of methylmalonic acid (MMA) and homocysteine and a decreased production of methionine. The aim is to review existing scientific literature of all late onset cblC patients in terms of clinical symptoms, diagnosis, and outcome.
METHODS
A bibliographic database search was undertaken in PubMed (MEDLINE) complemented by a reference list search. We combined search terms regarding cblC disease and late onset. Two review authors performed the study selection, data extraction and quality assessment.
RESULTS
Of the sixty-five articles included in this systematic review, we collected a total of 199 patients. The most frequent clinical symptoms were neuropathy/myelopathy, encephalopathy, psychiatric symptoms, thrombotic microangiopathy, seizures, kidney disease, mild to severe pulmonary hypertension with heart failure and thrombotic phenomena. There were different forms of supplementation used in the different studies collected and, within these studies, some patients received several treatments sequentially and/or concomitantly. The general outcome was: 64 patients recovered, 78 patients improved, 4 patients did not improve, or the disease progressed, and 12 patients died.
CONCLUSIONS
Most scientific literature regarding the late onset cblC disease comes from case reports and case series. In most cases treatment initiation led to an improvement and even recovery of some patients. The lack of complete recovery underlines the necessity for increased vigilance in unclear clinical symptoms for cblC disease.
Topics: Adult; Female; Pregnancy; Humans; Amino Acid Metabolism, Inborn Errors; Hyperhomocysteinemia; Homocystinuria; Methylmalonic Acid; Vitamin B 12
PubMed: 38245797
DOI: 10.1186/s13023-024-03021-3 -
Journal of Health, Population, and... Jan 2024Vitamin D is a prominent modulator of immunity and respiratory function. It plays a vital role in respiratory diseases such as cystic fibrosis (CF). S. However, there is... (Meta-Analysis)
Meta-Analysis
AIM
Vitamin D is a prominent modulator of immunity and respiratory function. It plays a vital role in respiratory diseases such as cystic fibrosis (CF). S. However, there is a dearth of information on patients with CF. The purpose of the meta-analysis is to highlight the importance of following the existing guidelines regarding maintenance of Vitamin D serum levels in patients with CF.
METHODS
The systematic search was conducted without utilizing any time or language limitations in original database from the beginning until March 2022. The meta-analysis was performed using a random-effects model. Heterogeneity was determined by I statistics and Cochrane Q test.
RESULTS
Pooled analysis using the random-effects model of the 8 case-control studies with 13 effect sizes revealed that the serum 25-OH-vitamin D in participants with cystic fibrosis was significantly lower than controls in pediatrics and adolescences (WMD: - 3.41 ng/ml, 95% CI - 5.02, - 1.80, p = < 0.001) and adults (WMD: - 2.60 ng/ml, 95% CI - 4.32, - 0.89, p = 0.003). Based on data from 12 studies (21 effect sizes) with a total of 1622 participants, the prevalence of vitamin D levels of 20-30 ng/ml in CF patients was 36% among pediatrics/adolescents and 63% among adults. In addition, 27% of pediatric/adolescent CF patients and 35% of adult CF patients had vitamin D levels of below 20 ng/ml.
CONCLUSIONS
As a result, according to the existing guidelines, our results proved the need to pay attention to the level of vitamin D in these patients.
Topics: Adult; Adolescent; Humans; Child; Cystic Fibrosis; Vitamin D Deficiency; Vitamin D; Case-Control Studies
PubMed: 38233891
DOI: 10.1186/s41043-024-00499-2 -
Irish Journal of Medical Science Jun 2024This systematic review and network meta-analysis aimed to evaluate the three different administration routes of vitamin B12: oral, intramuscular (IM), and sublingual... (Meta-Analysis)
Meta-Analysis
BACKGROUND
This systematic review and network meta-analysis aimed to evaluate the three different administration routes of vitamin B12: oral, intramuscular (IM), and sublingual (SL) routes.
METHODS
We searched four electronic databases (PubMed, Scopus, Web of Science, and Cochrane CENTRAL Register of Controlled Trials). We included only comparative studies. We performed a frequentist network meta-analysis to measure network estimates for the relative outcomes. Moreover, we conducted a pairwise meta-analysis using a random effect model to obtain direct estimates for outcomes. All outcomes were continuous, and the relative treatment effects were pooled as mean difference (MD) with 95% confidence intervals.
RESULTS
Thirteen studies were included in the meta-analysis, with a total of 4275 patients. Regarding increasing vitamin B12 levels, the IM route ranked first, followed by the SL route (MD = 94.09 and 43.31 pg/mL, respectively) compared to the oral route. However, these differences did not reach statistical significance owing to the limited number of studies. Regarding the hemoglobin level, the pooled effect sizes showed no difference between all routes of administration that could reach statistical significance. However, the top two ranked administration routes were the oral route (78.3) and the IM route (49.6).
CONCLUSION
All IM, oral, and SL routes of administration of vitamin B12 can effectively increase the level of vitamin B12 without significant differences between them, as thought previously. However, the IM route was the top-ranked statistically but without clinical significance. We found no significant difference among studied administrated routes in all other CBC parameters and homocysteine levels.
Topics: Humans; Administration, Oral; Administration, Sublingual; Dietary Supplements; Hemoglobins; Injections, Intramuscular; Network Meta-Analysis; Treatment Outcome; Vitamin B 12; Vitamin B 12 Deficiency
PubMed: 38231320
DOI: 10.1007/s11845-023-03602-4 -
BMC Infectious Diseases Jan 2024Human papillomavirus (HPV) is one of the most prevalent sexually transmitted diseases worldwide. The present review was conducted to accumulate evidence on the...
BACKGROUND
Human papillomavirus (HPV) is one of the most prevalent sexually transmitted diseases worldwide. The present review was conducted to accumulate evidence on the relationship between cervicovaginal human papillomavirus infection and serum vitamin D status.
METHODS
Electronic databases including Web of Science, Embase, Scopus, and PubMed were searched by different combinations of keywords related to "human papillomavirus" and "vitamin D", obtained from Mesh and Emtree with AND, and OR operators without any time restriction until December 24, 2022. Selection of articles was based on the inclusion and exclusion criteria. Newcastle-Ottawa Scale was used for quality assessment. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) checklist was applied for reporting.
RESULTS
In total, 276 citations were retrieved. After removing duplicates, and non-related articles, the full texts of 7 articles were reviewed including 11168 participants. Three studies reported that there was a positive relationship between vitamin D deficiency and cervicovaginal human papillomavirus while three studies did not. One study showed a significant positive association between higher vitamin D stores and short-term high-risk human papillomavirus persistence.
CONCLUSIONS
The findings showed no firm evidence for any association between serum vitamin D level and cervicovaginal human papillomavirus infection, although the possible association could not be discarded. Further investigations are needed to reach sound evidence.
Topics: Humans; Human Papillomavirus Viruses; Papillomavirus Infections; Vitamin D; Vitamin D Deficiency; Vitamins
PubMed: 38216875
DOI: 10.1186/s12879-024-09006-8 -
Multiple Sclerosis and Related Disorders Feb 2024Vitamin D deficiency has been linked to a higher risk of multiple sclerosis (MS) and disease progression. However, the efficacy of vitamin D as an adjuvant therapy for... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Vitamin D deficiency has been linked to a higher risk of multiple sclerosis (MS) and disease progression. However, the efficacy of vitamin D as an adjuvant therapy for MS remains a controversial topic.
OBJECTIVE
To perform a systematic review and meta-analysis of randomized controlled trials to assess the impact of adjunct high-dose vitamin D on clinical and radiological outcomes.
METHODS
PubMed, Embase, and Cochrane Library were searched for trials published until December 18th, 2022. Authors independently selected randomized controlled trials involving patients with MS, with an intervention group receiving high dose (≥ 1000 IU/day) cholecalciferol and reporting clinical or radiological outcomes. Authors independently extracted data and assessed the risk of bias using a standardized, pilot-tested form. The meta-analysis was conducted using RStudio for EDSS at the last follow-up, ARR, and new T2 lesion count.
RESULTS
We included 9 studies with 867 participants. No significant reduction of EDSS (MD = 0.02, CI 95 % [-0.37; 0.41], p = 0.91), ARR (MD -0.03, CI 95 % [-0.08; 0.02], p = 0.26), or new T2 lesions (MD -0.59, CI 95 % [-1.24;0.07], p = 0.08) was observed at 6-24 months. We found no evidence of publication bias.
CONCLUSION
The findings of this meta-analysis strengthen current evidence that vitamin D supplementation has no significant impact on clinical outcomes in patients with MS. However, the non-significant reduction of new T2 lesions could precede long-term clinical benefits and should be validated in additional studies.
Topics: Humans; Cholecalciferol; Multiple Sclerosis; Randomized Controlled Trials as Topic; Vitamin D Deficiency; Disease Progression; Vitamin D
PubMed: 38211504
DOI: 10.1016/j.msard.2024.105433 -
European Journal of Pediatrics Apr 2024Vitamin D deficiency is associated with obesity and its associated metabolic disorders, as specified in many epidemiological studies. The assertion that vitamin D can...
UNLABELLED
Vitamin D deficiency is associated with obesity and its associated metabolic disorders, as specified in many epidemiological studies. The assertion that vitamin D can mitigate insulin insensitivity in obese children and adolescents lacks adequate empirical substantiation. Thus, the study utilized some clinical trials on vitamin D interventions to examine the impact of vitamin D supplementation on insulin resistance in obese children and adolescents. The literature was extracted by applying the PRISMA method through electronic databases such as Scopus, Science Direct, Medline, the Cochrane Library, and PubMed from 2012 to 2022. All the articles were in English, and the inclusion criteria for each article were based on the study design and the anthropometric and biochemical parameters of the subjects. A total of 572 research articles were acquired, out of which only seven closely adhered to the inclusion criteria of the study. The studies in this systematic review are based on randomized control trials. The age range of the children in this study spans from 2 to 19 years, and the follow-up period ranges from 3 to 12 months. The range of daily vitamin D doses provided varied from 2000 to 10,000 IU. The results indicate that four randomized controlled trials have demonstrated a positive impact on glycemic parameters, such as insulin levels, fasting blood sugar, and insulin resistance, in the subjects following vitamin D treatment. However, the three trials did not provide sufficient evidence to support a statistically significant effect.
CONCLUSION
The present review highlights that a significant proportion of the studies incorporated in the analysis demonstrate that the administration of vitamin D may be a preventive measure in ameliorating insulin resistance among pediatric patients with obesity, but it is advisable to implement a prolonged intervention with a substantial sample size and perform micro-level analysis at the gene level to evaluate the impact of vitamin D treatment.
WHAT IS KNOWN
• Childhood obesity and its associated metabolic disorder is a concerned global problem. • Several studies showed an association of vitamin D deficiency with adiposity- induced metabolicdisorders which are still controversial. This study focused on finding interlink between vitamin Dsupplementation with obesity induced insulin resistance in children and adolescents.
WHAT IS NEW
• This study supports that high dosage of Vitamin D in long term may be protective against insulinresistance in obese paediatric individuals. • A new factor is also reported in the study that vitamin D may alter the composition of gut microbiotawhich represents a compelling approach to the therapeutic management of obesity and diabetes.
Topics: Adolescent; Child; Humans; Infant; Glucose Intolerance; Insulin Resistance; Insulins; Pediatric Obesity; Vitamin D; Vitamin D Deficiency; Vitamins
PubMed: 38206398
DOI: 10.1007/s00431-023-05407-0 -
Evidence-based Dentistry Jun 2024To identify, qualify and synthesize all studies that assessed if low serum level of 25(OH)D (<50 nmol/L) is associated with dental developmental defects (DDD) in...
OBJECTIVE
To identify, qualify and synthesize all studies that assessed if low serum level of 25(OH)D (<50 nmol/L) is associated with dental developmental defects (DDD) in primary teeth.
MATERIALS AND METHODS
Observational studies or clinical trials were included if measured 25(OH)D serum levels in pregnant women and/or in their children (up to 3 years old) and evaluated the occurrence of DDD in the primary dentition of offspring associated with the low 25(OH)D levels. Literature reviews, case reports, laboratory and/or animals' studies, conference abstracts, letters to the editor, book chapters and clinical protocols were excluded. Searches were carried out in 6 electronic databases and in the gray literature until March 2023, without restrictions. The study quality was assessed by the Newcastle-Ottawa Scale and the certainty of the evidence by GRADE. Data were descriptively synthesized considering the association between DDD and 25(OH)D levels.
RESULTS
Seven studies were included. Only developmental enamel defects (DED) were observed after examination of 6651 children. The incidence of DED ranged from 8.9% to 66%. Six studies found no association between low levels of 25(OH)D and DED. However, one reported correlation between hypomineralization of the primary second molar (HSMD) and low levels of 25(OH)D at birth. Methodological flaws were observed in all studies and the certainty of the evidence was very low.
CONCLUSION
Although HSMD was the only DDD associated with low levels of 25(OH)D in children, the available evidence is still not conclusive. More robust studies are needed to endorse the biological plausibility of DDD in primary teeth due to low serum levels of 25(OH)D in pregnant women or in their children. FAPERJ financed this study, which was registered in PROSPERO (CRD42022357511).
Topics: Humans; Tooth, Deciduous; Vitamin D; Vitamin D Deficiency; Child, Preschool; Female; Pregnancy
PubMed: 38200326
DOI: 10.1038/s41432-023-00967-4 -
The Cochrane Database of Systematic... Jan 2024Vitamin B deficiency is a major public health problem worldwide, with the highest burden in elderly people, pregnant women, and young children. Due to its role in DNA...
BACKGROUND
Vitamin B deficiency is a major public health problem worldwide, with the highest burden in elderly people, pregnant women, and young children. Due to its role in DNA synthesis and methylation, folate metabolism, and erythropoiesis, vitamin B supplementation during pregnancy may confer longer-term benefits to maternal and child health outcomes.
OBJECTIVES
To evaluate the benefits and harms of oral vitamin B supplementation during pregnancy on maternal and child health outcomes.
SEARCH METHODS
We searched the Cochrane Pregnancy and Childbirth's Trials Register, ClinicalTrials.gov, the World Health Organization International Clinical Trials Registry Platform (ICTRP) on 2 June 2023, and reference lists of retrieved studies.
SELECTION CRITERIA
Randomised controlled trials (RCTs), quasi-RCTs, or cluster-RCTs evaluating the effects of oral vitamin B supplementation compared to placebo or no vitamin B supplementation during pregnancy.
DATA COLLECTION AND ANALYSIS
We used standard Cochrane methods. Four review authors independently assessed trial eligibility. Two review authors independently extracted data from included studies and conducted checks for accuracy. Three review authors independently assessed the risk of bias of the included studies using the Cochrane RoB 1 tool. We used GRADE to evaluate the certainty of evidence for primary outcomes.
MAIN RESULTS
The review included five trials with 984 pregnant women. All trials were conducted in low- and middle-income countries, including India, Bangladesh, South Africa, and Croatia. At enrolment, 26% to 51% of pregnant women had vitamin B deficiency (less than 150 pmol/L), and the prevalence of anaemia (haemoglobin less than 11.0 g/dL) ranged from 30% to 46%. The dosage of vitamin B supplementation varied from 5 μg/day to 250 μg/day, with administration beginning at 8 to 28 weeks' gestation through to delivery or three months' postpartum, and the duration of supplementation ranged from 8 to 16 weeks to 32 to 38 weeks. Three trials, involving 609 pregnant women, contributed data for meta-analyses of the effects of vitamin B supplementation compared to placebo or no vitamin B supplementation. Maternal anaemia: there may be little to no difference for maternal anaemia by intervention group, but the evidence is very uncertain (70.9% versus 65.0%; risk ratio (RR) 1.08, 95% confidence interval (CI) 0.93 to 1.26; 2 trials, 284 women; very low-certainty evidence). Maternal vitamin B status: vitamin B supplementation during pregnancy may reduce the risk of maternal vitamin B deficiency compared to placebo or no vitamin B supplementation, but the evidence is very uncertain (25.9% versus 67.9%; RR 0.38, 95% CI 0.28 to 0.51; 2 trials, 272 women; very low-certainty evidence). Women who received vitamin B supplements during pregnancy may have higher total vitamin B concentrations compared to placebo or no vitamin B supplementation (mean difference (MD) 60.89 pmol/L, 95% CI 40.86 to 80.92; 3 trials, 412 women). However, there was substantial heterogeneity (I = 85%). Adverse pregnancy outcomes: the evidence is uncertain about the effect on adverse pregnancy outcomes, including preterm birth (RR 0.97, 95% CI 0.55 to 1.74; 2 trials, 340 women; low-certainty evidence), and low birthweight (RR 1.50, 95% CI 0.93 to 2.43; 2 trials, 344 women; low-certainty evidence). Two trials reported data on spontaneous abortion (or miscarriage); however, the trials did not report quantitative data for meta-analysis and there was no clear definition of spontaneous abortion in the study reports. No trials evaluated the effects of vitamin B supplementation during pregnancy on neural tube defects. Infant vitamin B status: children born to women who received vitamin B supplementation had higher total vitamin B concentrations compared to placebo or no vitamin B supplementation (MD 71.89 pmol/L, 95% CI 20.23 to 123.54; 2 trials, 144 children). Child cognitive outcomes: three ancillary analyses of one trial reported child cognitive outcomes; however, data were not reported in a format that could be included in quantitative meta-analyses. In one study, maternal vitamin B supplementation did not improve neurodevelopment status (e.g. cognitive, language (receptive and expressive), motor (fine and gross), social-emotional, or adaptive (conceptual, social, practical) domains) in children compared to placebo (9 months, Bayley Scales of Infant and Toddler Development Third Edition (BSID-III); 1 trial; low-certainty evidence) or neurophysiological outcomes (72 months, event-related potential measures; 1 trial; low-certainty evidence), though children born to women who received vitamin B supplementation had improved expressive language domain compared to placebo (30 months, BSID-III; 1 trial; low-certainty evidence).
AUTHORS' CONCLUSIONS
Oral vitamin B supplementation during pregnancy may reduce the risk of maternal vitamin B deficiency and may improve maternal vitamin B concentrations during pregnancy or postpartum compared to placebo or no vitamin B supplementation, but the evidence is very uncertain. The effects of vitamin B supplementation on other primary outcomes assessed in this review were not reported, or were not reported in a format for inclusion in quantitative analyses. Vitamin B supplementation during pregnancy may improve maternal and infant vitamin B status, but the potential impact on longer-term clinical and functional maternal and child health outcomes has not yet been established.
Topics: Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Pregnancy; Abortion, Spontaneous; Anemia; Dietary Supplements; Outcome Assessment, Health Care; Vitamin B 12; Vitamins
PubMed: 38189492
DOI: 10.1002/14651858.CD013823.pub2 -
Orthopaedic Journal of Sports Medicine Jan 2024Deficiency in vitamin D has been shown to increase the risk of injury. (Review)
Review
BACKGROUND
Deficiency in vitamin D has been shown to increase the risk of injury.
PURPOSE
To synthesize current placebo-controlled randomized trials investigating the effect of vitamin D supplementation in elite athletes on (1) aerobic capacity; (2) anaerobic measures, such as strength, speed, and anaerobic power; (3) serum biomarkers of inflammation; and (4) bone health.
STUDY DESIGN
Systematic review; Level of evidence, 1.
METHODS
A literature search was conducted on November 30, 2022, according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Included were randomized, placebo-controlled studies of longer than 2 weeks on subjects with active participation in organized sport. Excluded were nonrandomized controlled trial study designs, vitamin D administration routes other than oral, studies that did not use vitamin D supplementation as the sole intervention, and studies with nonathletic or military populations.
RESULTS
Out of 2331 initial studies, 14 studies (482 athletes) were included. Of the 3 studies that assessed aerobic capacity, 2 demonstrated significantly greater improvements in maximal oxygen uptake and physical working capacity-170 ( < .05) in supplemented versus nonsupplemented athletes. Measurements of anaerobic power and strength were consistently increased in supplemented groups compared with nonsupplemented groups in 5 out of the 7 studies that assessed this. Of the 6 studies that assessed sprint speed, 4 found no significant difference between supplemented and nonsupplemented groups. Aside from 1 study that found significantly lower interleukin-6 levels in supplemented athletes, measures of other inflammatory cytokines were not affected consistently by supplementation. The 4 studies that assessed markers of bone health were conflicting regarding benefits of supplementation. One study found demonstrated improvements in bone mineral density in response to supplementation ( = .02) compared with control whereas another found no significant difference between supplemented and nonsupplemented groups. However, in 3 other studies, serum biomarkers of bone turnover such as bone-specific alkaline phosphatase, parathyroid hormone, and N-terminal telopeptide appeared to be higher in subjects with lower serum vitamin D levels ( < .05).
CONCLUSION
Results of this systematic review indicated that the greatest benefit of vitamin D supplementation in elite athletes may be improving aerobic endurance, anaerobic power, and strength. More research is needed to determine the effect of vitamin D supplementation on bone health and injury risk in this population.
PubMed: 38188620
DOI: 10.1177/23259671231220371 -
Journal of Hypertension Apr 2024In the present study, we aimed to conduct a literature review and meta-analysis to assess the effect of Vitamin D supplementation on SBP and DBP levels in individuals... (Meta-Analysis)
Meta-Analysis
In the present study, we aimed to conduct a literature review and meta-analysis to assess the effect of Vitamin D supplementation on SBP and DBP levels in individuals with hypertension and hypovitaminosis D. PubMed, Scopus, Web of Science, and SciELO were systematically searched for relevant publications until January 2023. The review has been registered at PROSPERO (CRD42023400035). To compare the effects of vitamin D with placebo, the mean differences with 95% confidence intervals (95% CIs) were pooled based on the random-effects model. Subgroup analyses were performed to identify the source of heterogeneity, and assessment of study quality was conducted using the GRADE approach. Publication bias was evaluated using funnel plots and Egger's tests. In total, 14 randomized controlled trials (RCTs) were included in this systematic review, and 11 trials were selected for meta-analysis. The data showed that Vitamin D significantly decreased SBP levels; however, it did not affect DBP levels. In subgroup analysis, Vitamin D supplementation significantly decreased in SBP in studies involving individuals over 60 years of age, with a dose greater than 400 000 IU, duration greater than 8 weeks, frequency of weekly supplementation in studies conducted in Asia. In addition, subgroup analysis revealed a significant reduction in DBP in the weekly frequency subgroups and in the studies carried out in Asia. This meta-analysis indicated that Vitamin D significantly reduced the SBP in individuals with hypertension and hypovitaminosis D. Further, well designed trials are necessary to validate these results.
Topics: Humans; Blood Pressure; Dietary Supplements; Hypertension; Vitamin D; Vitamin D Deficiency
PubMed: 38164948
DOI: 10.1097/HJH.0000000000003646