Difficulties in Diagnosing Fabry Disease in Patients with Unexplained Left Ventricular Hypertrophy (LVH): Is the Novel GLA Gene Mutation a Pathogenic Mutation or Polymorphism?

Fabry disease (FD) is an X-linked, lysosomal glycosphingolipid storage disorder that occurs very rarely. Cardiac involvement may comprise of left ventricular hypertrophy (LVH), arrhythmias, conduction abnormalities, heart failure and valvular abnormalities. The goal of this study was to conduct gene analysis for FD in patients suffering from unexplained LVH. 120 patients over the age of 30 who were diagnosed by echocardiography with idiopathic LVH were included in the study. Patients with severe hypertension, intermediate valve disease such as moderate aortic stenosis, known FD, and a family history of autosomal dominant hypertrophic cardiomyopathy were excluded from the study. GLA gene mutations were studied by Sanger sequence analysis in all patients. Of the 120 total patients included in this study, 69 were female (58%) and 51 were male (42%). The mean age was 60.3 ± 15.7. GLA gene mutations were detected in three male patients. The detected mutations are as follows: NM_000169.2:IVS6-10G>A (c.1000-10G>A), NM_000169.2:c.937G>T (p.D313Y) (p.Asp313Tyr) and NM_000169.2:c.941A>T (p.K314M) (p.Lys314Met). Early diagnosis is of vital importance in FD, which can be treated with enzyme replacement. Genetic screening in patients diagnosed with idiopathic LVH by echocardiography is important in the early diagnosis and treatment of FD. Patients over 30 years of age with idiopathic LVH should be screened for FD. Various new polymorphisms can be detected in genetic screening. Identifying new polymorphisms is important for knowing the true mutations in FD.

Irisin, Angtpl8, Elabela and antioxidants alteration in rats with and without energy drink and treadmill exercise.

OBJECTIVE: In this study, we sought to investigate the effects of energy drink supplementation and treadmill exercise on the levels of free radicals, antioxidants, Angtpl8, Elabela, and lipid metabolism in rats. MATERIALS AND METHODS: A total of 28 male Wistar albino rats (4 weeks old, 101.96 ± 9.75 g) were included in the study. The rats were randomly divided into four equal groups: control, exercise, supplement, and exercise+supplement groups. At the end of the study, the rats were decapitated, and blood samples were tested for levels of Angptl-8, ghrelin, leptin, irisin, SOD, CAT, TBARS, total oxidant status, and total antioxidant status using enzyme-linked immunosorbent assay. Levels of blood lipids including triglycerides, total cholesterol, HDL-C, and LDL-C were studied using spectrophotometric method in an auto analyzer. RESULTS: Statistical analysis showed statistical significance in TBARS, LDL-C, irisin, Angptl-8, and Elabela levels of the exercise group; SOD and HDL-C levels of the supplement+exercise group; and total cholesterol levels in the supplement group (p < 0.05). Although there were differences between the groups in leptin, ghrelin, and CAT levels, they were not statistically significant (p > 0.05). CONCLUSIONS: As a result, it can be argued that treadmill exercise is important in regulating lipid metabolism and stimulating peptide hormones and receptors. Furthermore, consuming energy drinks without performing exercise or physical activity increases fat stores, and such increases in the critical organs and tissues may pose a threat to the body.

Effect of regular exercise on the levels of subfatin and asprosin: a trial with different types of exercise.

OBJECTIVE: Subfatin (Metrnl) and asprosin are associated with metabolic diseases, such as obesity and diabetes. Exercise is among the most important regulators of health in humans and has been previously demonstrated to regulate these parameters. The present study aimed to investigate the effects of different types of regular exercises on levels of subfatin, asprosin, aspartate aminotransferase (AST), alanine aminotransferase (ALT), uric acid, and glucose. MATERIALS AND METHODS: The study included 120 young and healthy males, who participated in the study voluntarily. These participants were randomly divided into four groups, such as control (C), aerobic exercise (AE), intermittent (HIIT), and resistance exercise (RE) groups. Additionally, all the groups had equal numbers of participants. First, the subjects in the exercise group were made familiar with the exercise regime for two weeks. Then, they performed regular exercises, three days a week for eight weeks. Blood samples were collected from the participants at the beginning and end of the study. Subfatin and asprosin levels were analyzed using the ELISA method. AST, ALT, uric acid, and glucose levels were analyzed using the AutoAnalyzer. RESULTS: No differences were observed in pretest values between the groups (p>0.05). Assessment of intragroup changes demonstrated no significant changes in the control group. In the comparisons, statistically significant changes were recorded in the levels of subfatin, asprosin, and glucose in all exercise groups. Particularly, differences were observed in the levels of AST and uric acid in the AE and HIIT groups while differences in ALT levels were observed only in the AE group (p<0.05). CONCLUSIONS: In the conclusion of the study, different types of exercises caused significant changes in subfatin and asprosin levels. Thus, these results suggested that the parameters associated with metabolic diseases could be controlled with the aid of regular exercises.

Basal blood concentrations of some orexigenic and anorexigenic hormones in obese and nonobese individuals according to blood groups.

OBJECTIVE: Obesity is a serious public health problem associated with excessive food intake. Regulation of food intake in highly organized organisms is under the control of a large number of orexigenic and anorexigenic molecules. Therefore, the main purpose of this study has been to determine the relationship between obesity and some of the circulating orexigenic and anorexigenic peptides that have a role in appetite control and to determine whether the concentrations of these molecules differ according to blood groups. PATIENTS AND METHODS: The study included 400 individuals of whom 100 were obese women, 100 obese men, 100 healthy men and 100 healthy women. Obese women and men were divided into 4 groups, according to their blood groups. In the control group, healthy women and healthy men were similarly divided into 4 blood groups. Each blood group within the groups, therefore, had 25 participants. RESULTS: When leptin, nesfatin-1, obestatin and neuropeptide-Y, ghrelin and galanin levels of the control group and obese participants were compared, regardless of blood groups, leptin, nesfatin-1, obestatin and neuropeptide-Y were significantly higher, whereas only the ghrelin levels were significantly lower in obese patients. When the amounts of these hormones were measured according to gender, the situation was similar. When leptin, nesfatin-1, obestatin and neuropeptide-Y values of the control and obese participants' blood groups were compared with each other; these hormones were high in all blood groups; however, leptin levels in A blood group, nesfatin-1 levels in AB and O blood group, obestatin levels in AB blood group, neuropeptide-Y levels in A, B, AB blood groups were significantly higher. When the ghrelin levels of the blood groups in the control group and obese participants were compared, it was only significantly lower in the AB blood group. The ghrelin levels in the other blood groups of the obese individuals were again low, but not significantly so. When the distribution of hormones according to gender was evaluated, a situation parallel to the above results was recorded. CONCLUSIONS: Leptin, nesfatin-1, obestatin and neuropeptide-Y and galanin levels of obese individuals were significantly higher than the control values, whereas the ghrelin values were significantly lower regardless of blood groups. Also, these hormones in blood partly varied with ABO blood groups. These different concentrations of hormones in ABO blood groups might be related with stimulation or suppression of appetite in human. However, further studies in other ethnic groups are needed to confirm these results.

Sociodemographic, clinical, laboratory, treatment and prognostic characteristics of 156 generalized pustular psoriasis patients in Turkey: a multicentre case series.

BACKGROUND: Generalized pustular psoriasis (GPP) is a rare and severe inflammatory disease characterized by widespread and superficial sterile pustules on an erythematous background. OBJECTIVES: This multicentre study aimed to determine the clinical profile and course in a large cohort of patients with GPP. METHODS: One hundred and fifty-six GPP patients (mean age, 44.2 ± 18.7 years) who met the diagnostic criteria of the European Consensus Report of GPP were included in the study. Sociodemographic characteristics, quality of life, triggering factors of the disease, clinical, laboratory, treatment and prognostic features were evaluated. RESULTS: 61.5% of the patients were female. The rate of working at or below the minimum wage (≤$332.5/month) was 44.9%. Drugs (36.5%) were the most common trigger. While hypocalcaemia (35.7%) was the most important cause of GPP during pregnancy, systemic steroid withdrawal (20%) was the most frequently reported trigger for infantile/juvenile and mixed-type GPP (15%) (P < 0.05). Acute GPP (53.8%) was the most common clinic. Nails were affected in 43.6% of patients, and subungual yellow spots (28.2%) were the most common change. In annular GPP, fever (P < 0.001) and relapse frequency (P = 0.006) were lower than other subtypes, and the number of hospitalizations (P = 0.002) was lower than acute GPP. GPP appeared at a later age in those with a history of psoriasis (P = 0.045). DLQI score (P = 0.049) and joint involvement (P = 0.016) were also higher in this group. Infantile/juvenile GPP was observed in 16.02% of all patients, and arthritis was lower in this group (24.4 vs. 16%). GPP of pregnancy had the worst prognosis due to abortion observed in three patients. CONCLUSIONS: Recent advances in treatment have improved mortality associated with GPP, but abortion remains a significant complication. Although TNF-α inhibitors have proven efficacy in GPP, they can also trigger the disease. Mixed-type GPP is more similar to acute GPP than annular GPP with systemic manifestations and course.

Containment measures established during the COVID-19 outbreak and its impact on lipid profile and neutrophil to lymphocyte ratio.

OBJECTIVE: Almost all countries announced social restrictions and distancing measures which could unintentionally lead to a decline in admissions to hospital for acute disorders other than signs of pneumonia. We aimed to evaluate lipid profile, neutrophil to lymphocyte ratio (NLR) and cardiovascular admissions to the coronary care unit (CCU) of a tertiary center in Turkey during the COVID-19 era and to compare these results with admissions in the same time interval of the previous year. MATERIALS AND METHODS: We retrospectively analyzed CCU admissions due to new-onset atrial fibrillation, ST-elevation myocardial infarction, non-ST elevation acute coronary syndrome (NSTEACS) and acute heart failure during the COVID-19 outbreak and the same time interval of the past year. Laboratory measurements including lipid profile and NLR values were retrieved from the institutional digital database. RESULTS: Compared to the same time interval of 2019 (March-April, 2019), the number of patients admitted to the CCU with acute cardiovascular disorders (atrial fibrillation, STEMI, NSTEACS and acute heart failure) were lower in the COVID-19 period. The levels of NLR, total cholesterol, and low-density lipoprotein (LDL) cholesterol were significantly higher and high-density lipoprotein (HDL) cholesterol was significantly lower in subjects admitted to the CCU during March-April 2020 compared to subjects admitted in March-April 2019. CONCLUSIONS: Our findings show that subjects admitted to the CCU in the COVID-19 era have an unfavorable lipid profile and elevated NLR compared to those admitted in 2019. These patients appear to be at high risk for future cardiovascular events.

Relationship between ACE gene polymorphism and ischemic chronic heart failure in Turkish population.

BACKGROUND: Angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism has been associated with the development of left ventricular hypertrophy, myocardial infarction, and remodeling. However, little is known about its role in ischemic chronic heart failure (CHF). We investigated the relationship between ACE gene I/D polymorphism and ischemic CHF and its influence on exercise capacity. METHODS: ACE gene I/D polymorphism was analyzed in 209 Turkish patients with coronary artery disease (CAD) undergoing coronary angiography. ACE genotype distributions were examined in 84 consecutive patients with ischemic CHF, functional capacity class II-IV to New York Heart Association and left ventricular ejection fraction (LVEF) < 40% and 125 consecutive patients with stable angina pectoris and LVEF > or = 40%. Furthermore the results of the cardiopulmonary exercise testing (CPX) in each ACE genotype were compared in medically treated ischemic CHF patients (n = 84). RESULTS: ACE genotype distributions were similar between the patients with and without symptomatic CHF in CAD. The odds ratios were 0.95 for D homozygotes (p > 0.05) and 0.98 for the D allele (p > 0.05). In patients with ischemic CHF the differences in CPX findings were statistically not significant in ACE D/D, I/D and I/I genotypes (peak oxygen consumptions 13.7 +/- 4.6; 14.6 +/- 5.1 and 14.5 +/- 5.0 ml/kg/min, respectively (p >0.05). CONCLUSIONS: In this study population, there was no evidence that ACE gene I/D polymorphism plays a role in the development of CHF in CAD or any influence on exercise capacity in treated patients with ischemic CHF.

[Myxoma of the left ventricle: Its diagnosis by 2-dimensional echocardiography]. / Mixoma de ventrículo izquierdo: diagnóstico mediante ecocardiografía bidimensional.

We report a patient who presented with focal neurologic findings. Bidimensional echocardiography disclosed a mass with aspect of myxoma located in the left ventricle. Surgical excision allowed confirmation of the diagnosis.

[Doctor's-office blood pressure, home blood pressure, ergometry blood pressure and 24-hour blood pressure. The correlations with the echocardiographic parameters of heart muscle mass]. / Sprechstundenblutdruck, Heimblutdruck, Ergometer-Blutdruck und 24-Stunden-Blutdruck. Korrelationen mit echokardiographischen Parametern der Herzmuskelmasse.

In 62 untreated hypertensives (31 men, 31 women; median age 40 [17-57] years) blood pressures (BP) were measured in the doctor's office, at home (self-measured) and every 15 min during 24-hour monitoring (by portable automated oscillometry), the results being compared with echocardiographic measurements of ventricular septal thickness (VST), left ventricular muscle mass (LVM) and left ventricular mass index (LVMI), in 41 of them also during and 5 min after 100 W bicycle ergometry. In the total cohort, 24-hour values correlated better with diastolic VST (systolic: r = 0.706, P less than 0.00001; diastolic: r = 0.507, P less than 0.0001) than office BP (systolic: r = 0.381, P less than 0.01; diastolic: r = 0.177, not significant) and home BP (systolic: r = 0.477, P less than 0.0001; diastolic: r = 0.371, P less than 0.05). In the 41 exercised hypertensives the correlation with echocardiographic values was less close than with their 24-hour BP, but slightly better than with office and home BP. Systolic BP correlated better than diastolic BP with echocardiographic values. VST generally correlated better with BP than LVM and LVMI. It is concluded that (1) 24-hour BP values correlate more closely with LVM than any other noninvasive BP measurement; (2) VST is affected more by systolic than diastolic BP; and (3) VST more specifically reflects the influence of BP on myocardial structure than does LVM and LVMI.