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BACKGROUND: Gaucher disease (GD) is the most common autosomal recessive lipid storage disease. In this study, the changes in TFH cells and IL-4 and IL-21 cytokines in blood samples of GD patients, carriers and healthy volunteers were investigated. METHODS: Two pretreatment type 1 GD patients, 20 currently treated type 1 GD patients, 6 carriers, and 27 healthy volunteers were enrolled in the study. TFH cell (CD45RA-CD4+CXCR5+) number, phenotype (PD1, ICOS expression), and cytokine production (IL-21, IL-4) were assessed via flow cytometric assays. RESULTS: No significant differences were found between the groups with respect to the number, frequency and PD1 or ICOS expression of TFH cells between healthy controls, patients and carriers. However, IL-4+ TFH cells were significantly reduced both in percent and number in the treated GD patients compared with healthy controls (p < 0.05). Interestingly, the IL-21+ TFH cell number was increased in treated GD patients. When TFH cells were examined based on CXCR3 expression, the frequency of the PD1+Th17-Th2-like fraction (CXCR3-) was found to be significantly increased in treated GD patients. CONCLUSION: To our knowledge, this is the first study to assess TFH cells in GD patients, and to show that the production of IL-4 and IL-21 by TFH cells and their subsets may be altered in type 1 GD patients.
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Doença de Gaucher , Células T Auxiliares Foliculares , Humanos , Linfócitos T Auxiliares-Indutores/metabolismo , Doença de Gaucher/metabolismo , Interleucina-4 , Interleucinas , Linfócitos T CD4-PositivosRESUMO
BACKGROUND: There is a paucity of global data on cardiovascular disease (CVD) prevalence in people with type 2 diabetes (T2D). The primary objective of the CAPTURE study was to estimate the prevalence of established CVD and its management in adults with T2D across 13 countries from five continents. Additional objectives were to further characterize the study sample regarding demographics, clinical parameters and medication usage, with particular reference to blood glucose-lowering agents (GLAs: glucagon-like peptide-1 receptor agonists and sodium-glucose co-transporter-2 inhibitors) with demonstrated cardiovascular benefit in randomized intervention trials. METHODS: Data were collected from adults with T2D managed in primary or specialist care in Australia, China, Japan, Czech Republic, France, Hungary, Italy, Argentina, Brazil, Mexico, Israel, Kingdom of Saudi Arabia, and Turkey in 2019, using standardized methodology. CVD prevalence, weighted by diabetes prevalence in each country, was estimated for the overall CAPTURE sample and participating countries. Country-specific odds ratios for CVD prevalence were further adjusted for relevant demographic and clinical parameters. RESULTS: The overall CAPTURE sample included 9823 adults with T2D (n = 4502 from primary care; n = 5321 from specialist care). The overall CAPTURE sample had median (interquartile range) diabetes duration 10.7 years (5.6-17.9 years) and glycated hemoglobin 7.3% (6.6-8.4%) [56 mmol/mol (49-68 mmol/mol)]. Overall weighted CVD and atherosclerotic CVD prevalence estimates were 34.8% (95% confidence interval [CI] 32.7-36.8) and 31.8% (95% CI 29.7-33.8%), respectively. Age, gender, and clinical parameters accounted for some of the between-country variation in CVD prevalence. GLAs with demonstrated cardiovascular benefit were used by 21.9% of participants, which was similar in participants with and without CVD: 21.5% and 22.2%, respectively. CONCLUSIONS: In 2019, approximately one in three adults with T2D in CAPTURE had diagnosed CVD. The low use of GLAs with demonstrated cardiovascular benefit even in participants with established CVD suggested that most were not managed according to contemporary diabetes and cardiology guidelines. Study registration NCT03786406 (registered on December 20, 2018), NCT03811288 (registered on January 18, 2019).
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Doenças Cardiovasculares/epidemiologia , Diabetes Mellitus Tipo 2/epidemiologia , Idoso , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/prevenção & controle , Estudos Transversais , Diabetes Mellitus Tipo 2/diagnóstico , Diabetes Mellitus Tipo 2/tratamento farmacológico , Feminino , Humanos , Hipoglicemiantes/uso terapêutico , Masculino , Pessoa de Meia-Idade , Prevalência , Prognóstico , Fatores de Proteção , Medição de Risco , Fatores de Risco , Fatores de TempoRESUMO
BACKGROUND: Attaining acceptable levels of LDL Cholesterol (LDL-C) significantly improves cardiovascular (CV) outcomes in patients with type 2 diabetes mellitus (T2DM). The LDL-C target attainment and the characteristics of patients attaining these targets were investigated in this study. Furthermore, the reasons for not choosing statins and the physicians' attitudes on the treatment of diabetic dyslipidemia were also examined. METHODS: A nationwide, cross-sectional survey was conducted in tertiary centers for diabetes management. Adult patients with T2DM, who were under follow-up for at least a year in outpatient clinics, were consecutively enrolled for the study. LDL-C goals were defined as below 70 mg/dL for patients with macrovascular complications or diabetic nephropathy, and below 100 mg/dL for other patients. Data about lipid-lowering medications were self-reported. RESULTS: A total of 4504 patients (female: 58.6%) were enrolled for the study. The mean HbA1c and diabetes duration was 7.73 ± 1.74% and 10.9 ± 7.5 years, respectively. The need for statin treatment was 94.9% (n = 4262); however, only 42.4% (n = 1807) of these patients were under treatment, and only 24.8% (n = 448) of these patients achieved LDL-C targets. The main reason for statin discontinuation was negative media coverage (87.5%), while only a minority of patients (12.5%) mentioned side effects. Physicians initiated lipid-lowering therapy in only 20.3% of patients with high LDL-C levels. It was observed that the female gender was a significant independent predictor of not attaining LDL-C goals (OR: 0.70, 95% CI: 0.59-0.83). CONCLUSIONS: Less than 50 % of patients with T2DM who need statins were under treatment, and only a quarter of them attained their LDL-C targets. There exists a significant gap between the guideline recommendations and the real-world evidence in the treatment of dyslipidemia in T2DM.
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LDL-Colesterol/sangue , Diabetes Mellitus Tipo 2/tratamento farmacológico , Dislipidemias/tratamento farmacológico , Inibidores de Hidroximetilglutaril-CoA Redutases/uso terapêutico , Idoso , Estudos Transversais , Diabetes Mellitus Tipo 2/sangue , Diabetes Mellitus Tipo 2/epidemiologia , Dislipidemias/sangue , Dislipidemias/epidemiologia , Feminino , Hemoglobinas Glicadas/genética , Humanos , Masculino , Pessoa de Meia-Idade , Inquéritos e Questionários , Centros de Atenção TerciáriaRESUMO
PURPOSE: The aim of this study was to evaluate the roles of factors associated with coagulation in the etiology and pathogenesis of Sheehan's syndrome (SS) which is a frequent cause of hypopituitarism in underdeveloped and developing regions of the world. METHODS: Mean prothrombin time (PT), activated partial thromboplastin time (APTT) and expression levels of genes, which included methylenetetrahydrofolate reductase (MTHFR), angiotensin I converting enzyme (ACE), coagulation factor V (FV), FVII, FVIII and FIX in 44 patients with SS were compared with 43 healthy subjects. RESULTS: The mean expression level of the ACE gene was significantly lower, while that of the FV gene was significantly higher in the patients with SS. No significant difference was found between the patients with SS and the healthy subjects in the comparisons of the remaining gene expression values, as well as in the PT and APTT values. CONCLUSION: An increased expression of the FV gene may be a contributing factor for the development of SS in some patients. Further studies are required to clarify the roles of coagulation disorders in the development of SS.
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Expressão Gênica , Hipopituitarismo/sangue , Trombofilia/sangue , Idoso , Feminino , Humanos , Hipopituitarismo/genética , Pessoa de Meia-Idade , Trombofilia/genéticaRESUMO
OBJECTIVE: The purpose of this study was to identify patient characteristics and statin discontinuation-related factors in patients with hypercholesterolemia. METHODS: A total of 532 patients (age mean±SD: 57.4±11.5 years; 52.4% women, 47.6% men) with hypercholesterolemia and statin discontinuation were included in this national cross-sectional non-interventional observational study. Data on socio-demographic characteristics of patients, cardiovascular risk factors, past treatment with and discontinuation of statin treatment were collected in one visit. RESULTS: Mean±SD duration of hypercholesterolemia was 4.9±4.2 years at time of discontinuation of statin treatment. Statin treatment was initiated by cardiologists in the majority of cases (55.8%), whereas discontinuation of statin treatment was decided by patients in the majority of cases (73.7%), with patients with higher (at least secondary education, 80.4%) more likely than those with lower (only primary education, 69.7%) to decide to discontinue treatment (p=0.022). Negative information about statin treatment disseminated by TV programs-mostly regarding coverage of hepatic (38.0%), renal (33.8%), and muscular (32.9%) side effects (32.9%)-was the most common reason for treatment discontinuation. CONCLUSION: The decision to discontinue statin treatment was made at the patient's discretion in 74% of cases, with higher likelihood of patients with higher educational status deciding to discontinue treatment and switch to non-drug lipid-lowering alternatives. Cardiologists were the physicians most frequently responsible for the initiation of the statin treatment; coverage of several non-life-threatening statin side effects by TV programs and patients' lack of information regarding high cholesterol and related risks were the leading factors predisposing to treatment discontinuation.
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Inibidores de Hidroximetilglutaril-CoA Redutases/uso terapêutico , Hipercolesterolemia/tratamento farmacológico , Hipercolesterolemia/epidemiologia , Adesão à Medicação/estatística & dados numéricos , Idoso , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fatores Socioeconômicos , TurquiaRESUMO
Polycystic ovary syndrome (PCOS) is a heterogeneous disorder, which is considered not only a reproductive disease but also a metabolic disorder associated with long-term health risks. The aim of this study was to assess the effects of metformin on insulin resistance, oxidant-antioxidant status, endothelial dysfunction, lipid metabolism and their contribution to the risks of cardiovascular disease in women with PCOS. Fifteen women with PCOS and 17 healthy women were included in this case-control study. Nitric oxide (NO), endothelin-1 (ET-1), malondialdehyde (MDA), Apo A1, Apo B, small, dense LDL cholesterol (sdLDL-C), lipid levels and paraoxonase 1 (PON1) activity were measured in serum/plasma obtained from study groups. Insulin resistance (HOMA index - Homeostasis Model Assessment) and serum sex hormone profiles were also evaluated. Significantly decreased NO levels and PON1 activities, but increased MDA, ET-1 and sdLDL-C were found in PCOS patients compared to those of controls. Serum MDA, ET-1, HOMA and sdLDL-C levels decreased and PON1 activity and NO levels increased significantly after the metformin treatment. There was a positive correlation between MDA and free testosterone (fT), ET-1 and fT; and a negative correlation between PON1 activity and fT. Insulin resistance, dyslipidemia, endothelial dysfunction and oxidative stress might contribute to the excess risk of cardiovascular disease reported in PCOS. Metformin seemed to decrease oxidative stress and improve insulin resistance, dyslipidemia and endothelial dysfunction in PCOS patients.
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Hipoglicemiantes/administração & dosagem , Resistência à Insulina/fisiologia , Metabolismo dos Lipídeos/efeitos dos fármacos , Metformina/administração & dosagem , Estresse Oxidativo/efeitos dos fármacos , Síndrome do Ovário Policístico/metabolismo , Adulto , Apolipoproteína A-I/sangue , Apolipoproteínas B/sangue , Arildialquilfosfatase/sangue , Estudos de Casos e Controles , LDL-Colesterol/sangue , Endotelina-1/sangue , Estradiol/sangue , Feminino , Hormônio Foliculoestimulante/sangue , Humanos , Metabolismo dos Lipídeos/fisiologia , Hormônio Luteinizante/sangue , Malondialdeído/sangue , Óxido Nítrico/sangue , Estresse Oxidativo/fisiologia , Síndrome do Ovário Policístico/sangue , Progesterona/sangue , Adulto JovemRESUMO
Papillary thyroid carcinoma (PTC) is a common endocrine cancer with a good prognosis. Radioactive iodine is thought to be useful for individuals who have had a total or almost total thyroidectomy, but its effects are still controversial. The effects of radioactive iodine-131 (I-131) treatment on oxidative and chromosomal damage in PTC patients were examined in this study, which was carried out with 16 patients newly diagnosed with PTC and 20 healthy control subjects with similar age and gender. Blood samples were taken from patients with PTC at five sampling times (before total thyroidectomy, after total thyroidectomy, and seven days, six months, and one year after treatment) and from control subjects. The cytokinesis block micronucleus cytome (CBMN-cyt) assay parameters in peripheral blood lymphocytes of patients with PTC and controls were evaluated and plasma 8-hydroxydeoxyguanosine (8-OHdG) levels were measured. Furthermore, genome instability and oxidative DNA damage in peripheral blood lymphocytes and plasma of patients with PTC were evaluated before total thyroidectomy (n=16), after total thyroidectomy (before I-131 treatment) (n=16), seven days (n=10), six months (n=5), and one year after treatment (n=5). The numbers of CBMN-cyt assay parameters (micronucleus; MN and nucleoplasmic bridges; NPB) and 8-OHdG levels in patients with PTC were determined to be significantly higher than in those of the control subjects and these values significantly decreased after total thyroidectomy (before I-131 treatment). While the number of MN, apoptotic, and necrotic cells increased after I-131 treatment, it significantly decreased after six months and one year after treatment. The results achieved in this study suggest that I-131 treatment may pose a threat to cells and that radioactive iodine therapy should be avoided (if possible) for patients with PTC after total thyroidectomy.
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Dano ao DNA , Radioisótopos do Iodo , Estresse Oxidativo , Câncer Papilífero da Tireoide , Neoplasias da Glândula Tireoide , Tireoidectomia , Humanos , Radioisótopos do Iodo/uso terapêutico , Radioisótopos do Iodo/efeitos adversos , Neoplasias da Glândula Tireoide/sangue , Neoplasias da Glândula Tireoide/radioterapia , Neoplasias da Glândula Tireoide/patologia , Neoplasias da Glândula Tireoide/genética , Feminino , Masculino , Adulto , Pessoa de Meia-Idade , Câncer Papilífero da Tireoide/sangue , Câncer Papilífero da Tireoide/radioterapia , Estresse Oxidativo/efeitos dos fármacos , Testes para Micronúcleos , Carcinoma Papilar/sangue , Carcinoma Papilar/patologia , Carcinoma Papilar/radioterapia , Carcinoma/radioterapia , Carcinoma/sangue , Carcinoma/genética , Linfócitos/efeitos da radiação , Linfócitos/efeitos dos fármacos , 8-Hidroxi-2'-Desoxiguanosina/sangue , Desoxiguanosina/análogos & derivados , Desoxiguanosina/sangue , Estudos de Casos e Controles , Instabilidade GenômicaRESUMO
PURPOSE OF REVIEW: The proposed expert opinion was prepared by a panel of obesity and law specialists from Turkey to review the utility of telemedicine in obesity care and to provide a guidance document with recommendations on a hybrid multidisciplinary integrated care follow-up algorithm and the legislation governing telemedicine practice to assist obesity specialists in practicing the telemedicine. RECENT FINDINGS: The efficacy and feasibility of telemedicine interventions in supporting obesity management programs even during pandemics confirm that obesity is a particularly well-suited field for telemedicine, emphasizing the strong likelihood of continued utilization of telemedicine in obesity management, beyond the pandemic period. Telemedicine has great potential to address several barriers to ongoing weight-management care, such as challenges of access to specialized care, cost, and time limitations as well as patient adherence to treatment. However, telemedicine practice should complement rather than replace the in-person visits which are unique in building rapport and offering social support. Accordingly, the participating experts recommend the use of a hybrid integrated care model in the management of obesity, with the use of telemedicine, as an adjunct to in-person visits, to enable the provision of suggested intensive obesity management via frequent visits by a multidisciplinary team of obesity specialists. Further research addressing the utility of telemedicine in terms of optimal modality and duration for successful long-term obesity management outcomes is necessary to develop specific guidelines on telemedicine practice. In addition, the legislation governing the norms and protocols on confidentiality, privacy, access, and liability needs to be improved.
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Prestação Integrada de Cuidados de Saúde , Telemedicina , Humanos , Prova Pericial , Seguimentos , Obesidade/terapia , PandemiasRESUMO
BACKGROUND: Growth hormone deficiency (GHD) is associated with an increased cardiovascular mortality. Increased oxidative stress has been associated with development of cardiovascular and cerebrovascular diseases. In the present study, we aimed to evaluate oxidant and antioxidant status in patients with GHD by analyzing serum paraoxonase1 (PON1) activity, and malondialdehyde (MDA) and thiol levels. MATERIALS AND METHODS: This study was a case-control study. Thirty patients with GHD were included in the study and compared with 20 healthy controls. Serum PON1 activity, and MDA and thiol levels were measured according to an enzymatic spectrophotometric method. RESULTS: Serum MDA levels (2.8 ± 1.3 nmol/mL) were higher in GHD group than the controls (1.7 ± 0.5 nmol/mL) (P = 0.001). PON1 activity (149.9 ± 77.9 U/L) was lower in GHD group than the controls (286.3 ± 126.7 U/L) (P = 0.001). Thiol and high-density lipoprotein cholesterol (HDL-cholesterol) levels were lower in GHD group (218.6 ± 103.9 µmol/L and 32.6 ± 13.4 mg/dL, respectively) than the controls (289.6 ± 101.1 µmol/L and 54.3 ± 14.9 mg/dL, respectively) (P = 0.021 and P = 0.001, respectively). In GHD patients, serum MDA level was negatively correlated with serum HDL-cholesterol (r = -0.499, P = 0.001), and serum PON1 activity was positively correlated with serum thiol and HDL-cholesterol levels (r = 0.306, P = 0.032 and r = 0.303, P = 0.033, respectively). CONCLUSION: These data support that GHD is characterized by an imbalance between oxidant and antioxidant factors. This abnormality may contribute to the increased atherogenic risk in patients with GHD.
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OBJECTIVE: High triglyceride (TG) levels are associated with an increased risk for atherosclerotic cardiovascular disease (ASCVD) and pancreatitis. The objectives for this study were to evaluate for the coexistence of severe HTG and pancreatitis in two different geographic regions of Turkey and to identify rare variants that cause monogenic HTG in our country. METHODS: In our study from 2014 to 2019, patients with severe HTG who presented to the endocrinology outpatient clinics with TG levels >500 mg/dL (5.7 mmol/L) were evaluated. The LPL, APOC2, APOA5, GPIHBP1, LMF1, and APOE genes were sequenced using next generation sequencing to screen for potentially pathogenic variants. RESULTS: Potentially pathogenic variants were identified in 64 (47.1%) of 136 patients. Variants in LPL were seen in 42 (30.9%) cases, APOA5 variants in 10 (7.4%) cases, APOC2 variants in 5 (3.7%) cases, LMF1 variants in 5 (3.7%) cases, and APOE mutations in 2 (1.5%) cases. In the subgroup that experienced pancreatitis (n = 76, 56.3%), LPL variants were seen at higher frequency (P <0.001) than in the subgroup with no history of pancreatitis (n = 60, 43.7%). Patients who developed pancreatitis (56.3%) demonstrated a median TG of 2083 mg/dL (23.5 mmol/L), and patients without pancreatitis (43.7%) demonstrated a median TG of 1244.5 mg/dL (14.1 mmol/L) (P <0.001). CONCLUSION: Accurate approach to HTG diagnosis is important for the prevention of pancreatitis and ASCVD. Evaluation of variants in primary HTG after excluding secondary causes may help provide a patient-centric precision treatment plan.
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Hipertrigliceridemia , Receptores de Lipoproteínas , Humanos , Apolipoproteína C-II/genética , Mutação , Apolipoproteínas E/genética , Turquia , Apolipoproteína A-V/genética , Receptores de Lipoproteínas/genética , Proteínas de Membrana/genéticaRESUMO
BACKGROUND AND AIMS: Gaucher disease (GD) is caused by a genetic deficiency of the beta-glucocerebrosidase enzyme which results in the accumulation of glucosylceramide in macrophages. This accumulation may induce oxidative stress, resulting in DNA damage in patients with GD. The aim of this study was to assess plasma 8-hydroxy-2'-deoxyguanosine (8-OHdG) levels and cytokinesis-block micronucleus cytome (CBMN-cyt) assay parameters in the peripheral blood lymphocytes of patients with GD and carriers, evaluate the possible associations of these values with GD, and determine whether they can be used as potential biomarkers in GD. METHODS: This study included 20 patients with type 1 GD, six carriers, and 27 age- and sex-matched healthy controls. CBMN-cyt assay parameters in peripheral blood lymphocytes of the patients with GD, carriers, and controls were evaluated and 8-OHdG levels in their plasma samples were measured. RESULTS: CBMN-cyt assay parameters in patients with GD and carriers were not significantly different when compared with controls (p > 0.05). However, plasma 8-OHdG levels were found to be higher in both patients with GD and carriers than in control subjects (p < 0.01). CONCLUSIONS: Oxidative DNA damage may be a useful prognostic tool, whereas the CBMN-cyt assay cannot be used as a predictive biomarker of GD.
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Doença de Gaucher , Humanos , Testes para Micronúcleos/métodos , Doença de Gaucher/genética , Núcleo Celular/genética , 8-Hidroxi-2'-Desoxiguanosina , Biomarcadores , Dano ao DNA , Linfócitos , Estresse OxidativoRESUMO
Increased DNA damage has been suggested to contribute to the pathogenesis of chronic inflammatory diseases, but controlled studies are lacking in ankylosing spondylitis (AS). Therefore, we assessed oxidative stress, oxidative DNA damage, chromosomal DNA damage, cell proliferation and cell death in the peripheral blood lymphocytes of patients with AS as well as the possible role of DNA damage in the development of the disease. In total, 25 newly diagnosed AS patients who had not received anti-inflammatory agents and 25 healthy controls were recruited. Oxidative DNA damage was assessed by plasma 8-hydroxy-2'-deoxyguanosine (8-OHdG) levels, and chromosomal DNA damage was assessed by the cytokinesis-block micronucleus cytome (CBMN-cyt) method. Compared to controls, the micronucleus (MN) frequencies, nucleoplasmic bridge (NPB) frequencies, nuclear bud (NBUD) frequencies, apoptotic cell frequencies, necrotic cell frequencies and plasma 8-OHdG levels were significantly higher in patients with AS (p < 0.001, p < 0.05, p < 0.01, p < 0.001, p < 0.001, and p < 0.001, respectively), and the metaphase cell numbers, binucleated (BN) cell frequencies and nuclear division index (NDI) values were significantly lower in patients with AS (p < 0.01, p < 0.001 and p < 0.001, respectively). Thus, the present findings suggested that oxidative stress, oxidative DNA damage, and chromosomal DNA damage may be involved in the pathogenesis of AS similar to other chronic inflammatory diseases. In addition, the increased plasma 8-OHdG levels, MN frequencies, NPB frequencies and NBUD frequencies in AS patients may reflect an increased cancer risk.
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Espondilite Anquilosante , Humanos , Testes para Micronúcleos/métodos , Espondilite Anquilosante/genética , Núcleo Celular/metabolismo , Dano ao DNA , Estresse Oxidativo , DNA/metabolismo , LinfócitosRESUMO
BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is the most common cause of premature atherosclerotic cardiovascular disease (ASCVD). Türkiye is among the countries with the highest rate of ASCVD. However, no population-based study has been published so far on the prevalence of FH, demographic and clinical characteristics, burden of ASCVD, treatment compliance, and attainment of low-density lipoprotein cholesterol (LDL-C) targets. METHODS: We performed a study using the Turkish Ministry of Health's national electronic health records involving 83,063,515 citizens as of December 2021 dating back 2016. Adults fulfilling the diagnostic criteria of definite or probable FH according to the Dutch Lipid Network Criteria (DLNC), and children and adolescents fulfilling the criteria of probable FH according to the European Atherosclerosis Society (EAS) Consensus Panel report formed the study population (n = 157,790). The primary endpoint was the prevalence of FH. RESULTS: Probable or definite FH was detected in 0.63% (1 in 158) of the adults and 0.61% (1 in 164) of the total population. The proportion of adults with LDL-C levels >4.9 mmol/L (190 mg/dL) was 4.56% (1 in 22). The prevalence of FH among children and adolescents was 0.37% (1 in 270). Less than one-third of the children and adolescents, and two-thirds of young adults (aged 18-29) with FH were already diagnosed with dyslipidaemia. The proportion of adults and children and adolescents on lipid-lowering treatment (LLT) was 32.1% and 1.5%, respectively. The overall discontinuation rate of LLT was 65.8% among adults and 77.9% among children and adolescents. Almost no subjects on LLT were found to attain the target LDL-C levels. CONCLUSIONS: This nationwide study showed a very high prevalence of FH in Türkiye. Patients with FH are diagnosed late and treated sub-optimally. Whether these findings may explain the high rates of premature ASCVD in Türkiye needs further investigation. These results denote the urgent need for country-wide initiatives for early diagnosis and effective management of FH patients.
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Aterosclerose , Hiperlipoproteinemia Tipo II , Adulto Jovem , Adolescente , Humanos , Criança , LDL-Colesterol , Estudos Transversais , Hiperlipoproteinemia Tipo II/diagnóstico , Hiperlipoproteinemia Tipo II/tratamento farmacológico , Hiperlipoproteinemia Tipo II/epidemiologia , Aterosclerose/diagnósticoRESUMO
The aim of this study was to assess relationship of insulin resistance, oxidant-antioxidant status, endothelial dysfunction, lipid metabolism, and their contribution to the risks of cardiovascular disease in women with polycystic ovary syndrome (PCOS). Forty-five women with PCOS and 17 healthy women were included in this study. Nitric oxide (NO), endothelin-1 (ET-1), malondialdehyde (MDA), Apo A1, Apo B, high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), total cholesterol (TC), triglyceride, small, dense LDL cholesterol (sdLDL-C), large buoyant LDL cholesterol (LbLDL-C) levels, and paraoxonase 1 (PON1) activity were measured in serum/plasma obtained from study groups. Insulin resistance [homeostasis model assessment (HOMA) index] and serum sex hormone binding globulin (SHBG), total testosterone (tT), free testosterone (fT), androstenedione, and dehydroepiandrosteronsulfate (DHEAS) levels were also evaluated. Significantly decreased SHBG, NO, HDL-C levels, and PON1 activities, but increased tT, fT, androstenedione, DHEAS, HOMA index, MDA, ET-1, LDL-C, sdLDL-C, and LbLDL-C values were found in PCOS patients compared with those of controls. There was a positive correlation between MDA and fT levels; and a negative correlation between PON1 activity and fT. Our data show that insulin resistance, dyslipidemia, endothelial dysfunction, and oxidative stress might contribute to the excess risk of cardiovascular disease reported in PCOS patients.
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Arildialquilfosfatase/sangue , Doenças Cardiovasculares/etiologia , Dislipidemias/etiologia , Endotélio Vascular/fisiopatologia , Estresse Oxidativo , Síndrome do Ovário Policístico/sangue , Síndrome do Ovário Policístico/fisiopatologia , Adolescente , Apolipoproteína A-I/sangue , Apolipoproteínas B/sangue , Doenças Cardiovasculares/epidemiologia , Endotelina-1/sangue , Feminino , Humanos , Resistência à Insulina , Lipoproteínas LDL/sangue , Lipoproteínas LDL/química , Malondialdeído/sangue , Óxido Nítrico/sangue , Síndrome do Ovário Policístico/metabolismo , Fatores de Risco , Testosterona/sangue , Turquia/epidemiologia , Adulto JovemRESUMO
OBJECTIVES: This study aimed to evaluate the oral findings and dentomaxillofacial involvement of patients diagnosed with Type I Gaucher Disease (GD), and to compare these findings with the control group. METHODS: A total of 32 patients, 5 males, and 11 females in both the study (range 19-60, mean age 34.56) and control group (range 18-49, mean age 34.63) were included in the study. The file records of all patients obtained in the first evaluation were examined, and the hematological, visceral, and bone examination findings were recorded. Subsequently, oral examinations were performed for oral findings and dentomaxillofacial involvement, and radiological examinations were performed in panoramic images and cone-beam computed tomography (CBCT) images. RESULTS: There was mandible involvement in 9 (56.3%), and involvement in both jaws in 4 (25.0%) of the patients with Type I GD. According to the CBCT findings, generalized rarefaction in 10 (62.5%) patients, enlarged marrow spaces in 12 (75.0%) patients, thinning of the lamina dura in 10 (62.5%) patients, and loss in the cortical borders of the mandibular canal in 7 (43.8%) patients were among the common radiographic findings. When the control and study group were compared, in panoramic images, a significant difference was found in terms of generalized rarefaction and enlarged marrow spaces, while significant differences were found in CBCT images regarding generalized rarefaction, enlarged marrow spaces, loss in the cortical margins of the mandibular canal and widening in the periodontal ligament space. CONCLUSIONS: The roadmap for the diagnosis of Gaucher lesions in the jawbones includes a comprehensive medical history and a clinical and radiological examination. In conclusion, dentists should be familiar with the dentomaxillofacial findings of GD and be aware of possible oral and dental complications that may develop.
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Doença de Gaucher , Adulto , Tomografia Computadorizada de Feixe Cônico , Feminino , Doença de Gaucher/diagnóstico por imagem , Humanos , MasculinoRESUMO
Background: We evaluated the prevalence of vascular complications and associated risk factors in individuals with type 2 diabetes mellitus (T2DM) initiating second-line glucose-lowering therapy from the Middle East and Africa (MEA) cohort of the 3-year prospective DISCOVER study involving 15,992 patients in 38 countries. Methods: Baseline cross-sectional data collected from healthcare settings were used to assess micro and macrovascular complications prevalence as crude and age- and sex-standardised. The multi-variable analysis assessed factors associated with these complications. Results: Of 3,525 enrolled patients (mean age: 54.3 ± 10.8 years), >40% had hypertension and hyperlipidaemia. Metformin monotherapy was the first-line therapy in 56.5%, followed by metformin+sulphonylurea (20.3%). Crude and standardised prevalence of microvascular complications were 17.7% and 16.9% (95% confidence interval [CI], 16.77-16.98) and macrovascular complications were 10.7% and 8.7% (95% CI, 8.59-8.76). Factors significantly (p<0.05) associated with micro and macrovascular complications (odds ratios [95% CI]) were age (1.24 [1.12-1.39] and 1.58 [1.35-1.84]), male sex (1.33 [1.04-1.70] and 1.71 [1.22-2.40]), hyperlipidaemia (1.33 [1.07-1.65] and 1.96 [1.46-2.63]) and hypertension (1.75 [1.40-2.19] and 2.84 [2.07-3.92]). Conclusion: A substantial burden of vascular complications with prominent risk factors in the MEA cohort calls for early preventive interventions.
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Doenças Cardiovasculares , Diabetes Mellitus Tipo 2 , Hipertensão , Metformina , Adulto , Idoso , Doenças Cardiovasculares/complicações , Estudos Transversais , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/epidemiologia , Diabetes Mellitus Tipo 2/prevenção & controle , Humanos , Hipertensão/complicações , Hipertensão/epidemiologia , Masculino , Pessoa de Meia-Idade , Prevalência , Estudos Prospectivos , Fatores de RiscoRESUMO
INTRODUCTION: Despite the high prevalence of type 2 diabetes (T2D) and suboptimal glycemic control in the Middle East and Africa, comprehensive data on the management of T2D remain scarce. The main aim of this study is to describe the characteristics and treatment of patients with T2D initiating second-line glucose-lowering therapy in these regions. METHODS: DISCOVER is a global, 3-year, prospective observational study of patients with T2D enrolled at initiation of second-line glucose-lowering therapy. Baseline characteristics and treatments are presented for patients from 12 countries divided into three regions: Mediterranean, Gulf Cooperation Council, and South Africa. RESULTS: Among 3525 patients (52.5% male, mean age 54.3 years), mean time since T2D diagnosis was 6.2 years [across-region range (ARR) 5.8-7.5 years] and mean glycated hemoglobin levels were 8.7% (72.0 mmol/mol) [ARR 8.6-9.0% (68-75 mmol/mol)]. At first line, metformin was prescribed for 88.1% (ARR 85.4-90.3%) of patients and a sulfonylurea for 34.4% (ARR 12.7-45.4%). Sulfonylureas and dipeptidyl peptidase-4 inhibitors were prescribed at second line for 55.5% (ARR 48.6-82.5%) and 49.0% (ARR 3.7-73.8%) of patients, respectively. Main reasons for choice of second-line therapy were efficacy (73.2%; ARR 60.1-77.7%) and tolerability (26.8%; ARR 3.7-31.2%). CONCLUSIONS: We demonstrate considerable inter-region variations in the management of T2D, likely affected by multiple factors (health system, physician behavior, and patient compliance), all of which should be addressed to optimize outcomes.
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PURPOSE: The COVID-19 pandemic brought unprecedented conditions for overall health care systems by restricting resources for non-COVID-19 patients. As the burden of the disease escalates, routine elective surgeries are being cancelled. The aim of this paper was to provide a guideline for management of endocrine surgical disorders during a pandemic. METHODS: We used Delphi method with a nine-scale Likert scale on two rounds of voting involving 64 experienced eminent surgeons and endocrinologists who had the necessary experience to provide insight on endocrine disorder management. All voting was done by email using a standard questionnaire. RESULTS: Overall, 37 recommendations were voted on. In two rounds, all recommendations reached an agreement and were either endorsed or rejected. Endorsed statements include dietary change in primary hyperparathyroidism, Cinacalcet treatment in secondary hyperparathyroidism, alpha-blocker administration for pheochromocytoma, methimazole ± ß-blocker combination for Graves' disease, and follow-up for fine-needle aspiration results of thyroid nodules indicated as Bethesda 3-4 cytological results and papillary microcarcinoma. CONCLUSION: This survey summarizes expert opinion for the management of endocrine surgical conditions during unprecedented times when access to surgical treatment is severely disrupted. The statements are not applicable in circumstances in which surgical treatment is possible.
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COVID-19 , Pandemias , Consenso , Prova Pericial , Humanos , SARS-CoV-2RESUMO
INTRODUCTION: Concern has been expressed in recently published literature that gonadotropin replacement therapy (GnRT) in hypogonadism may alter sleep architecture and induce, or worsen, obstructive sleep apnea (OSA). AIM: To investigate the sleep stages and sleep-breathing parameters in young men with idiopathic hypogonadotropic hypogonadism (IHH)-a treatable form of male infertility and sexual dysfunction-before and 12 months following GnRT. METHODS: Sixteen male patients with IHH (mean age 27.5 ± 10.5 years, range 17-48 years) and 16 individually age-matched healthy men were included in the study. Human chorionic gonadotropin (HCG) was administered 1,500 U intramuscularly three times/week for 6 months, and then 75 U twice/week, recombinant follicle stimulating hormone (FSH) was added to HCG for the following 6 months. Polysomnography (PSG) recordings were performed at baseline in all and following the GnRT in the patient group. MAIN OUTCOME MEASURES: Sleep stages and sleep-breathing parameters on PSG. RESULTS: Patients with IHH had a higher percentage of slow-wave-sleep (SWS) (22.3 ± 6.3%) compared to that in the healthy controls (14.5 ± 9.5%; P = 0.009). Four patients and one control subject had OSA (Apnea-Hypopnea Index [AHI] > 5(-h) ) at baseline (not significant). Following the GnRT in the patient group, there was a slight decrease in SWS (18.6 ± 6.4%; P = 0.05) without any significant changes regarding the sleep-breathing parameters in the whole patient group. However, of the four patients with OSA at baseline, the GnRT was associated with worsening of the AHI in three of them. CONCLUSIONS: IHH in men is associated with a higher percentage of SWS. One-year GnRT slightly decreases SWS and does not induce OSA. However, in patients with OSA at baseline long-term GnRT should be exercised with caution.
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Gonadotropina Coriônica/efeitos adversos , Hormônio Foliculoestimulante/efeitos adversos , Hormônios/efeitos adversos , Hipogonadismo/tratamento farmacológico , Apneia Obstrutiva do Sono/induzido quimicamente , Sono/efeitos dos fármacos , Adolescente , Adulto , Terapia de Reposição Hormonal/efeitos adversos , Humanos , Masculino , Pessoa de Meia-Idade , Polissonografia , Apneia Obstrutiva do Sono/diagnóstico , Adulto JovemRESUMO
INTRODUCTION: Clinically non-functioning pituitary adenomas (NFPA) are common tumours of the pituitary gland and are mainly considered as benign. The primary aim of this study was to research the effects of NFPA on genome instability in patients with non-functioning pituitary adenoma by using the cytokinesis-block micronucleus cytome (CBMN-cyt) assay and 8-hydroxy- 2'-deoxyguanosine (8-OHdG) assay. The second objective of this study was to assess whether there is a relationship between age, pituitary adenoma diameters, 8-OHDG levels, CBMN site assay parameters, and tumour aggressiveness. MATERIAL AND METHODS: The study was performed on 30 patients who had been diagnosed with NFPA and were admitted to the Department of Endocrinology and Metabolism, and 20 healthy subjects of similar age and sex. RESULTS: Micronucleus (MN), nucleoplasmic bridges (NPBs), nuclear bud (NBUD) frequencies, and apoptotic and necrotic cell frequencies in patients with NFPA were found to be significantly higher than in control subjects, and plasma 8-OHdG levels in patients with NFPA were statistically significantly lower than control subjects in this study. CONCLUSIONS: It is believed that this is the first study to evaluate the aggressiveness of tumour with chromosome/oxidative DNA damage in patients with NFPA. However, further studies are needed in order to understand the cause of NFPA aggression and to evaluate these patients in terms of risk of cancer.