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Background: Gaucher disease is a common lysosomal storage disease caused by the deficiency of the β-glucosidase enzyme, leading to sphingolipid accumulation in the reticuloendothelial system in Gaucher cells. Clinical findings are quite variable and some patients may remain asymptomatic lifelong. However, even when patients have mild symptoms, there is a significant increase in their quality of life with enzyme replacement therapy. We aimed to reveal the relationship between a rare mutation in the Glucosylceramidase Beta (GBA) gene and clinical signs and symptoms. Another aim of the study was to show the effect of enzyme replacement therapy on the quality of life, even in patients with mild symptoms. Case presentation: Here, we report a 46-year-old male diagnosed with Gaucher disease based on splenic Gaucheromas incidentally discovered in a cardiac computerized tomography scan. In GBA gene analysis, the extremely rare R87W mutation was detected in a homozygous state. In retrospect, the patient had nonspecific symptoms such as fatigue and bone pain for a long time, which were substantially ameliorated by enzyme replacement therapy. Conclusion: In patients with adult-onset Gaucher disease, the symptoms may be mild, causing significant diagnostic delay. Gaucher disease may be included in the differential diagnosis of abdominal malignancies. Early diagnosis and treatment can improve quality of life and prevent unnecessary procedures.

Objectives Lysosomal storage diseases (LSD) constitute an important group of metabolic diseases, consisting of approximately 60 disorders. In some types of lysosomal diseases, enzyme replacement therapy (ERT) is administered intravenously in weekly or biweekly doses. Unfortunately, scheduled ERT during COVID-19 was disrupted. We considered the possibility of adverse outcomes caused by the disruption in the treatment of patients with lysosomal storage disorders. Methods During the COVID-19 pandemic, we conducted a questionnaire that was delivered via Internet to assess how this vulnerable patient group was affected by the pandemic in terms of their access to treatment and their disease-related symptoms. Results The questionnaire was filled out by 75 patients. There were 35 patients whose treatment dose was missed because of COVID-19. The most common reason for skipping treatment was not wanting to go to the hospital for fear of contracting COVID-19. These 35 patients missed a median of four doses of ERT (range: 1–16 dosages). Twenty-one patients (60%) claimed that they were affected physically by not taking ERT (20 mucopolysaccaridoses, 1 Fabry disease), whereas 14 (40%) did not. Conclusions Interruption of ERT during the COVID-19 pandemic may have significant consequences. It may be beneficial to switch to home treatment or reserve dedicated facilities. With proper planning and management, the treatment disruptions of this particular group can be avoided.

We aimed to evaluate 14 urinary phthalate metabolites and 4 toxic metals in adolescents having thyroid colloid cyst (TCC) and compare with age and sex-matched others without TCC. Phthalate metabolites were analysed with UPLC-MS/MS and heavy metals with ICP-MS. TCC ratios in tertile subgroups of pollutants were compared with multiple logistic regression analysis after adjusting for age, sex, z-scores for body mass index and urinary creatinine values. Adolescents having the highest tertile of mono (2-ethylhexyl) phthalic acid and mercury had increased odds and those with the highest tertiles of monocarboxy-isononyl phthalate, mono (3-carboxypropyl) phthalate, monoisobutyl phthalate had lower odds for TCC than counterparts. The odds of TCC were lower for those in the second and the third tertiles. No differences in TCC ratios were detected with other pollutants. Given phthalate esters' and toxic metals' specific interactions on TCC, further studies were necessary to assess the influence of chemicals on TCC.

Background Phenylketonuria (PKU) is an inherited disorder of amino acid metabolism, the treatment of which often requires a special diet to prevent adverse neuropsychiatric outcomes. In the COVID-19 pandemic, which has had a substantial effect on the whole world since the beginning of 2020, PKU patients represent a vulnerable population because they may be dependent on special nutritional products, have limited access to routine care and display increased levels of anxiety. Methods For this reason, an online questionnaire assessing the anxiety levels and various personal opinions and practices regarding the pandemic was sent to the PKU patients managed at our clinic, who were 12 years of age or older. Ninety-eight patients responded to the questionnaire. Median age of the participants was 19 years. Results Most patients were compliant with the hygiene and social distancing recommendations regarding the spread of COVID-19. Of the patients, 61.2% felt more anxious since the pandemic. The most common concern was the possibility of not being able to obtain special nutritional products (58.2%). Anxiety level was significantly higher in females. Conclusions These data suggest that food security is an important issue of concern in PKU patients. In line with the changing world after the pandemic, different strategies should be considered in the management of patients with inborn errors of metabolism, including PKU.

Ochratoxin A (OTA) is a chemical produced by some fungal species, and although its toxic effects have been shown in many animal studies, there are limited studies in humans. We aimed to examine the relationship between OTA and hypertension. 50 newly diagnosed hypertensive patients and 33 healthy individuals aged between 12 and 14 were included in the study. Anthropometric measurements, blood pressure measurements, complete blood count, blood biochemical parameters, urine lead level and urine OTA level were measured. OTA was detected in the urine samples of 90.9% of the control group, 100% of the hypertensive group and 85.7% of the obese+hypertensive group. Median urinary OTA was 32.9 ng/g creatinine for hypertensive group, 32.2 ng/g creatinine for hypertensive+obese group, 18.8 ng/g creatinine for the control group. Multivariate logistic regression analysis revealed a positive association between last quartile of urinary OTA level and being hypertensive [AOR:5.93 (95%CI: 1.27-27.61)] in adolescents without obesity. Hypertensive cases could be evaluated for OTA exposure in further studies.

Both exposure to toxic elements and hypertension (HT) are a global health problem. We planned to examine the associations between some toxic elements in urine, and blood pressure (BP) and its diurnal changes in adolescents.In this cross-sectional study, 48 adolescents who were newly diagnosed with HT and 38 adolescents with age-appropriate BP and normal physical examination were included. Anthropometric measurements, urinary toxic elements, carotid intima media thickness (cIMT), and office and 24-hour ambulatory BP measurements (ABPM) of participants were taken. Urinary elements levels were studied with ICP-MS. Elements were grouped in tertiles according to urinary levels. Logistic regression analyses were performed to show the interactions.Urinary cadmium, mercury, lead, and arsenic were found to be at detectable level in 90.7%, 69.8%, 91.9% and 100% of the participants, respectively. Univariate analyses showed that elevated daytime systolic and/or diastolic BP was associated with urinary cadmium and mercury. No association between urinary toxic elements and nighttime BP was found. When height and body mass index z-scores adjusted for, age, gender, and all four urinary creatinine-corrected toxic elements analyzed, multiple logistic regression revealed that there was an association between mercury (high vs. low; AOR:3.85) and office HT, and mercury (high vs. low; AOR:6.18) and cadmium (middle vs. low; AOR: 13.38) were associated with "elevated 24-hour systolic BP and/or diastolic BP", and "elevated 24-hour mean arterial BP" in ABPM.There are complex relationships between toxic elements and BP parameters in adolescents, and more studies are needed to define the evolution of these relations.

BackgroundObesity and obesity-related diseases are one of the common health problems worldwide and have also been proposed to be important predictors of blood pressure and cardiovascular disease risk. The aim of our study is to determine the utility of different anthropometric measurements (body mass index [BMI], skinfold thickness [SFT], waist circumference [WC], mid-upper arm circumference [MUAC], arm circumference-height ratio [AHtR], and waist circumference-height ratio [WHtR]) as markers of hypertension (HT) risk in adolescents.MethodsIn this cross-sectional study, 544 participants aged between 12 and 13 years were included. Anthropometric measurements and blood pressure of participants were measured. The association of different anthropometric measurements with blood pressure was evaluated.ResultsThe frequency of both elevated blood pressure and HT was 30.2%. Biceps, triceps, and suprailiac SFT have an impact on HT in girls but only suprailiac SFT in boys. WC measurements above the 85th percentile were strongly correlated with HT conditions, and this relationship was stronger in boys than in girls (3.3 vs. 2.6 fold). MUAC, WHtR, and AHtR measurements also have strong correlation with HT in boys but only WHtR has a poor relation in girls. In boys and girls with obesity, there was a positive association between obesity and blood pressures.ConclusionsNot only age-related BMI z scores but also a number of other anthropometric measurements, such as WC, SFT, MUAC, WHtR, and AHtR, could have an influence on high blood pressure. The influence changes with gender during adolescence.