Background: Reliable obesity assessment is essential in evaluating the risk of cardiovascular risk factors (CRFs). Non-availability of clearly defined cut-offs for body fat percentage (BF%), as well as a widespread application of surrogate measures for obesity assessment, may result in incorrect prediction of cardio-metabolic risk. Purpose: The study aimed to determine optimal cut-off points for BF%, with a view of predicting the CRFs related to obesity. Patients and Methods: The study involved 4735 (33.6% of men) individuals, the Polish-Norwegian Study (PONS) participants, aged 45– 64. BF% was measured with the aid of bioelectrical impedance analysis (BIA) method. The gender-specific cut-offs of BF% were found with respect to at least one CRF. A P-value approach, and receiver operating characteristic curve analyses were pursued for BF% cut-offs, which optimally differentiated normal from the risk groups. The associations between BF% and CRFs were determined by logistic regression models. Results: The cut-offs for BF% were established as 25.8% for men and 37.1% for women. With the exception of dyslipidemia, in men and women whose BF% was above the cut-offs, the odds for developing CRFs ranged 2– 4 times higher than those whose BF% was below the cut-offs. Conclusion: Controlling BF% below the thresholds indicating an increased health hazard may be instrumental in appreciably reducing overall exposure to developing cardio-metabolic risk.

Background: Loss of fat-free mass (FFM) and gain in body fat (BF) are the key disability risk factors, also instrumental in perpetuating already existing functional disorders. Obesity construed in terms of body mass index (BMI) values, in view of undesirable gain in BF, is a risk factor for cardio-metabolic disorders. Both detrimental processes clearly evidence a scope of involutionary changes characteristic of an aging population, also standing for one of its greatest burdens. Purpose: The present study aimed to assess the changes in body composition (BC), in conjunction with the relationship between BF% and BMI, for defining overweight and obesity status in middle-aged and older adults, against the select indicator variables under study. Materials and Methods: The study involved 4799 individuals (33.7% men), PONS Project participants, aged 43– 64 years. BF% was measured with the aid of bioelectrical impedance analysis (BIA) method. Age-induced changes in BC were determined against BF%, fat mass (FM), FFM, BMI, fat mass index (FMI), and fat-free mass index (FFMI). The relationship between BF% and BMI was established with the aid of Bayesian regression models, adjusted for gender and age. Results: In both genders, BF% increased with age at a similar annual rate. The reduction of FFM was noted mainly in men, which in conjunction with BF% gain ensured BMI stability. The increase in BF% in women with stable FFM affected an increase in BMI. Regardless of the BMI threshold, the anticipated (predicted) BF% increased with age in both genders. Conclusion: Monitoring of BC is of particular importance in older adults, in view of appreciably better characteristics of both the short- and long-term health predictors, as well as overall potential for developing specifically targeted, effective health interventions.

Hereditary mutations in BRCA1/2 genes increase the risk of breast cancer by 60–80% and ovarian cancer by about 20–40% in female carriers. Detection of inherited mutations in asymptomatic carriers allows for the implementation of appropriate preventive measures. BRCA1/2 genotyping is also important for poly(adenosine diphosphate)-ribose polymerase (PARP) inhibitor administration. This work addresses the need for next-generation sequencing (NGS) technology for the detection of BRCA1/2 mutations in Poland where until recently mostly founder mutations have been tested, and whether BRCA diagnostics should be extended beyond the panel of founder mutations in this population. The study comprises 2931 patients who were referred for genetic counseling and tested for founder and recurrent mutations in BRCA1 (5382insC (c.5266dupC; p.Gln1756Profs), c.5370C>T (c.5251C>T; p.R1751*), 300T>G (c.181T>G; p.Cys61Gly), 185delAG (c.68_69delAG; p.Glu23Valfs), and 4153delA (c.4035delA; p.Glu1346Lysfs)) by high-resolution melting/Sanger sequencing. A total of 103 (3.5%) mutations were detected, including 53 (51%) in healthy subjects and 50 (49%) in cancer patients. Then, based on more stringent clinical and pedigree criteria, sequencing of all BRCA1/2 exons was performed in 454 (16%) patients without founder mutations by NGS, which detected 58 mutations (12.8%), 40 (8.8%) of which were pathogenic. In 14 (3.1%) subjects, variants of uncertain significance (VUS) were detected, and in four (0.9%) subjects, the detected mutations were benign. In total, 161 mutations were detected using our two-step algorithm (founder test and NGS), of which 64% were founder mutations, 25% were NGS-detected pathogenic mutations, 9% were VUS, and 2% were benign. In addition, 38 mutations not yet reported in the Polish population were detected. In total, founder mutations accounted for only 64% of all detected mutations, and the remaining mutations (36%) were dispersed across the BRCA1/2 gene sequences. Thus, in Poland, testing for constitutional mutations in BRCA1/2 should be carried out in two stages, where NGS is performed in qualifying subjects if founder mutations are not identified.

Background: Cardiovascular diseases (CVDs) are the leading cause of mortality worldwide; with age acknowledged as an independent cardiovascular risk factor (CRF) in adults. Appreciating the association between age and classic CRFs is believed to boost all potential benefits of prevention. Purpose: Assessment of the prevalence of single and clustered CRFs and their association with age. Patients and Methods: The survey involved 4735 people (33.6% men) who were PONS project attendees aged 45– 64. The study protocol comprised the Health Status Questionnaire, general medical examination, anthropometric measurements, and blood and urine sampling. The prevalence of single and clustered CRFs (hypertension, dyslipidemia, diabetes mellitus, and obesity) in the incrementally split age groups was calculated. The incidence rate of CRFs, against their absence, was determined by Poisson regression models with robust standard errors. Results: The prevalence of CRFs was established in 90% of the respondents. Except dyslipidemia and ≥ 1 CRFs, prevalence of risk factors increased with age, although this trend was the weakest in men. In the total group, and in women, prevalence of dyslipidemia and ≥ 1 CRFs was unrelated to age, whereas in men, it was on the rise in the younger age groups. The incidence rate of CRFs was strongly related to age, and, with the exception of dyslipidemia, was higher in the older age groups. Conclusion: Cardiovascular risk factors are common in the adult population, while their prevalence and clustering are more prevalent in seniors. Apart from dyslipidemia, the risk of CRFs is appreciably age-related, and higher in seniors.

Modest weight loss enhances clinical control over cardiovascular disease (CVD) risk factors in overweight and obese individuals. This study aimed to assess the associations between individual weight loss and predefined criteria for clinical improvement in blood pressure, lipid levels, and glycemia. A two-year follow-up study involved 3388 (37.9% men) aged 45−64 years, BMI ≥ 25 kg/m². Changes in body weight were calculated as a percentage of baseline weight; outcome variables: systolic (SBP), diastolic (DBP) blood pressure, high-density (HDL-C) and low-density (LDL-C) lipoproteins, fasting blood glucose (FBG), and triglycerides (TG) were construed as the differences between baseline and outcome values. Clinically significant improvement was defined as SBP/DBP reduction by 5 mm/Hg, FBG−20 mg/dL, LDL-C-10 mg/dL, TG−40 mg/dL, and HDL-C increase by 5 mg/dL. Apart from LDL-C, a modest 5%–10% weight loss was associated with clinically significantly improved outcomes. The incident rate ratios and 95% confidence intervals for clinical improvement of SBP were: 1.27 (1.14–1.40), DBP/1.30 (1.12–1.50), HDL/1.54 (1.18–2.02), and TG/1.69 (1.32–2.17). In the higher category of weight loss, associations were still manifest, although the results proved diagnostically challenging (low number of cases). Even though modest weight loss does enhance clinical control over CVD risk factors, offering regular medical guidance to patients is postulated to further boos the anticipated outcomes.

Thyroid dysfunction and toxic metal exposure have been linked to the increased risk of autism spectrum disorders (ASD); however, the relationship between those factors remains unclear. We aimed to evaluate the relationship between the serum level of hormones, namely thyroid-stimulating hormone (TSH), free triiodothyronine (fT3), free thyroxine (fT4), and urinary cadmium (U-Cd) and urinary manganese (U-Mn), in patients with ASD. The study group consisted of 129 adolescents with ASD, and the control group consisted of 86 healthy persons. Ion chromatography with spectrophotometric detection (IC-UV/ViS) was used to quantitatively determine Cd and Mn in all 24-h urine samples. These results indicate that severity of certain symptoms in autism is associated with thyroid function. Correlation analysis between Childhood Autism Rating Scale (CARS) results and the content of both U-Mn and U-Cd as well as fT3, fT4 and TSH values in ASD patients showed significantly positive correlation of CARS7 (visual reaction) with fT3 and fT4 and a negative correlation with TSH for the whole study group. In the group of adolescents over 14 years of age, it was also observed that CARS10 (anxiety reaction) negatively correlates with serum TSH levels, and among younger individuals, CARS9 (near receptor responsiveness, taste, smell) positively correlates with TSH.