The diagnosis and treatment of rare diseases have improved significantly in recent years. The length of the diagnosis, which from the point of view of patients and their caregivers was considered the "Achilles' heel" of the healthcare system, has significantly shortened in many cases. Nevertheless, as research shows, there is still much to be done regarding the knowledge of rare diseases among healthcare professionals. The processes of diagnosis and treatment, as well as their organisation, should be redefined.

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.

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.

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.