Vitamin Status in Patients with Phenylketonuria: A Systematic Review and Meta-Analysis.

The published data on the vitamin status of patients with phenylketonuria (PKU) is contradictory; therefore, this systematic review and meta-analysis evaluated the vitamin status of PKU patients. A comprehensive search of multiple databases (PubMed, Web of Sciences, Cochrane, and Scopus) was finished in March 2024. The included studies compared vitamin levels between individuals diagnosed with early-treated PKU and healthy controls while excluding pregnant and lactating women, untreated PKU or hyperphenylalaninemia cases, control groups receiving vitamin supplementation, PKU patients receiving tetrahydrobiopterin or pegvaliase, and conference abstracts. The risk of bias in the included studies was assessed by the Newcastle-Ottawa scale. The effect sizes were expressed as standardised mean differences. The calculation of effect sizes with 95% CI using fixed-effects models and random-effects models was performed. A p-value < 0.05 was considered statistically significant. The study protocol was registered in the PROSPERO database (CRD42024519589). Out of the initially identified 11,086 articles, 24 met the criteria. The total number of participants comprised 770 individuals with PKU and 2387 healthy controls. The meta-analyses of cross-sectional and case-control studies were conducted for vitamin B12, D, A, E, B6 and folate levels. PKU patients demonstrated significantly higher folate levels (random-effects model, SMD: 1.378, 95% CI: 0.436, 2.320, p = 0.004) and 1,25-dihydroxyvitamin D concentrations (random-effects model, SMD: 2.059, 95% CI: 0.250, 3.868, p = 0.026) compared to the controls. There were no significant differences in vitamin A, E, B6, B12 or 25-dihydroxyvitamin D levels. The main limitations of the evidence include a limited number of studies and their heterogeneity and variability in patients' compliance. Our findings suggest that individuals with PKU under nutritional guidance can achieve a vitamin status comparable to that of healthy subjects. Our study provides valuable insights into the nutritional status of PKU patients, but further research is required to confirm these findings and explore additional factors influencing vitamin status in PKU.

The Effect of Folic Acid Supplementation on Endothelial Function and Arterial Stiffness Markers in Adults: A Systematic Review and Meta-Analysis.

Folic acid might improve endothelial function, but the results are inconclusive. This systematic review evaluated the effect of folic acid supplementation on endothelial parameters and arterial stiffness in adults. The study protocol was registered with the PROSPERO database (CRD42021290195). The PubMed, Web of Sciences, Cochrane and Scopus databases were searched to identify English-language randomised controlled trials of the effect of folate supplementation on arterial stiffness and endothelial function markers in adults. There were significant differences between the effect of folic acid and placebo on flow-mediated dilation (random-effects model, standardized mean differences (SMD): 0.888, 95% confidence interval (CI): 0.447, 1.329, p < 0.001) and monocyte chemotactic protein 1 (random-effects model, SMD: -1.364, 95% CI: -2.164, -0.563, p < 0.001), but there was no significant difference in the central pulse wave velocity (fixed-effects model, SMD: -0.069, 95% CI: -0.264, 0.125, p = 0.485) and peripheral pulse wave velocity (fixed-effects model, SMD: -0.093, 95% CI: -0.263, 0.077, p = 0.284). In conclusion, folic acid might have a favourable effect on endothelial function but may not affect arterial stiffness. Further studies are needed to confirm these results.

Anthropometric Parameters in Patients with Fatty Acid Oxidation Disorders: A Case-Control Study, Systematic Review and Meta-Analysis.

This study compared the anthropometric parameters of patients with fatty acid oxidation disorders (FAOD) and healthy controls, showing an increased prevalence of abnormal body weight (overweight and obesity) in the FAOD group. First, differences in BMI, BMI percentiles and z-scores, and weight and weight percentiles were compared in a cohort of 39 patients with FAOD and 156 healthy controls, as well as between patients born before and after the introduction of a populational newborn screening programme (NBS) in 2014 in Poland. We also performed a systematic literature review yielding 12 studies mentioning anthropometric parameters in 80 FAOD patients and 121 control subjects, followed by a meta-analysis of data from 8 studies and our cohort. There were significant differences in body weight percentiles (p = 0.001), BMI (p = 0.022), BMI percentiles (p = 0.003) and BMI z-scores (p = 0.001) between FAOD patients and controls in our cohort but not between pre- and post-newborn-screening patients. The meta-analysis did not show any differences in weight and BMI in all tested subgroups, i.e., all FAOD patients vs. controls, medium-chain acyl-CoA dehydrogenase (MCADD) patients vs. controls and patients with FAOD types other than MCAD vs. controls. These results, however, should be interpreted with caution due to the overall low quality of evidence as assessed by GRADE, the small sample sizes and the significant heterogeneity of the included data.

Comparison of the Effect of Endurance, Strength and Endurance-Strength Training on Glucose and Insulin Homeostasis and the Lipid Profile of Overweight and Obese Subjects: A Systematic Review and Meta-Analysis.

The most effective type of training to improve cardiometabolic parameters in overweight subjects is unknown. This meta-analysis compared the effect of endurance, strength and combined training on glucose, insulin metabolism and the lipid profile of overweight and obese adults. The Cochrane, PubMed, Scopus and Web of Science databases were searched to identify randomised trials assessing the effect of training intervention on fasting and 2 h glucose and insulin levels, glycated haemoglobin (HbA1c), homeostatic model assessment of insulin resistance (HOMA), C-peptide, total cholesterol (TC), low- (LDL-C) and high-density lipoprotein cholesterol and triglycerides (TG). Forty-six studies were included showing that endurance training more favourably reduced HbA1c (p = 0.044), and LDL-C (p = 0.021) than strength training. Endurance-strength training more effectively decreased glucose (p = 0.002), HbA1c (p = 0.032), HOMA (p = 0.002), TC (p = 0.039), LDL-C (p = 0.046), HDL (p = 0.036) and TG levels (p = 0.025) than strength training. Combined training significantly reduced the HOMA index (p = 0.009) and TG levels (p = 0.039) compared with endurance training. Endurance and endurance-strength training have a more favourable effect on glucose and insulin homeostasis and lipid profile than strength training in overweight and obese adults. However, the results from this meta-analysis should be interpreted cautiously due to significant heterogeneity among included studies.

The Awareness of Rare Diseases Among Medical Students and Practicing Physicians in the Republic of Kazakhstan. An Exploratory Study.

Although national plans or strategies for rare diseases (RDs) have been implemented in many jurisdictions research show that one of the main barriers RD patients face during medical encounter is medical professionals' low level of knowledge and experience on the diagnosis, treatment and rehabilitation of RD patients. Consequently, there is a need to increase the standards of medical education in the field of RDs and to revise the undergraduate and postgraduate training programs. However, while studies on medical education in the field of RDs has been conducted in various countries across the both Americas, Asia or the European Union, still little is known about the awareness of RDs among healthcare professionals in the Republic of Kazakhstan. Thus, we conducted a survey among 207 medical students and 101 medical doctors from the West Kazakhstan Marat Ospanov Medical University, Aktobe, Kazakhstan. The study was conducted between March and May 2021. The questionnaire assessed their knowledge about the number, examples, etiology and estimated frequency of RDs. It also evaluated respondents self-assessment of competence in RDs. Although the majority of respondents agreed that RDs constitute a serious public health issue both medical students and medical doctors showed insufficient knowledge on the etiology, epidemiology and prevalence of RDs, and many had problems with separating RDs from more common disorders. Moreover, they also lacked knowledge about and the central register of RD patients and reimbursement of orphan drugs in Kazakhstan. Finally, while almost half respondents declared having had classes about RDs during their studies most perceived their knowledge about RDs as insufficient or poor and felt unprepared for caring for RD patients. Additionally, although majority of respondents in both groups believed that all physicians, regardless of their specialization, should possess knowledge on RDs many respondents did not look for such information at all.