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INTRODUCTION: Aromatase inhibitors (AIs) have been used to slow down estrogen-dependent skeletal maturation in pubertal boys with short stature. In the literature, few data evaluate the effectiveness and safety of AIs in boys with growth hormone deficiency (GHD). This study aimed to evaluate the auxologic effects and short-term laboratory profiles of combined AI and rhGH therapy for 1 year in adolescent males with GHD. SUBJECTS AND METHODS: Male subjects between the ages of 10 and 16 with GHD from two different centers were included in the study. Patients were divided into two groups: (i) those who only used recombinant human growth hormone (rhGH) therapy (Group I; G-I) and (ii) those who also used AI therapy (anastrozole or letrozole) along with rhGH (Group II; G-II). RESULTS: Forty-one patients (G-I, 46%; G-II, 54%) were included in the study. All the subjects had isolated GHD. At the beginning of the treatment, the chronological ages (CAs) of the patients in the G-I and G-II groups were 11.8 (10.9-13.7) and 12.8 (12.0-14.3) years, respectively. The ratios of bone age (BA)/CA for the two groups were 0.8 (0.8-0.9) and 1.0 (0.9-1.1), respectively (p < 0.001). After the treatment, the height standard deviation (SD) scores and predicted adult height (PAH) significantly increased from baseline in all subjects in the G-I and G-II groups (p < 0.001; p < 0.001, respectively). There was no significant change in the ratio of BA/CA post-therapy in the G-I group (p = 0.1), while there was a significant decrease in the G-II group (p < 0.001). The growth velocities of the patients in the G-I and G-II groups were 9.1 (7.4-10.1) cm/year [1.5 (0.8-5.0) SD score] and 8.7 (7.5-9.9) cm/year [1.1 (0.3-3.1) SD score], respectively (p = 0.6). While post-therapy serum testosterone concentrations were seen to increase in the G-II group, none of the patients exhibited hematocrit above 50 percent, and the fasting glucose concentrations were normal. CONCLUSIONS: When used in addition to rhGH therapy in boys with GHD and advanced BA, AIs were observed to slow down the tempo of BA maturation after 1 year, compared to those who received rhGH treatment alone. AI therapy was found to be safe during the 1-year observation period and thus could be considered for preserving growth potential in these patients.
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BACKGROUND: Studies regarding genetic and clinical characteristics, gender preference, and gonadal malignancy rates for steroid 5-alpha-reductase type 2 deficiency (5α-RD2) are limited and they were conducted on small number of patients. OBJECTIVE: To present genotype-phenotype correlation, gonadal malignancy risk, gender preference, and diagnostic sensitivity of serum testosterone/dihydrotestosterone (T/DHT) ratio in patients with 5α-RD2. MATERIALS AND METHODS: Patients with variations in the SRD5A2 gene were included in the study. Demographic characteristics, phenotype, gender assignment, hormonal tests, molecular genetic data, and presence of gonadal malignancy were evaluated. RESULTS: A total of 85 patients were included in the study. Abnormality of the external genitalia was the most dominant phenotype (92.9%). Gender assignment was male in 58.8% and female in 29.4% of the patients, while it was uncertain for 11.8%. Fourteen patients underwent bilateral gonadectomy, and no gonadal malignancy was detected. The most frequent pathogenic variants were p.Ala65Pro (30.6%), p.Leu55Gln (16.5%), and p.Gly196Ser (15.3%). The p.Ala65Pro and p.Leu55Gln showed more undervirilization than the p.Gly196Ser. The diagnostic sensitivity of stimulated T/DHT ratio was higher than baseline serum T/DHT ratio, even in pubertal patients. The cut-off values yielding the best sensitivity for stimulated T/DHT ratio were ≥ 8.5 for minipuberty, ≥ 10 for prepuberty, and ≥ 17 for puberty. CONCLUSION: There is no significant genotype-phenotype correlation in 5α-RD2. Gonadal malignancy risk seems to be low. If genetic analysis is not available at the time of diagnosis, stimulated T/DHT ratio can be useful, especially if different cut-off values are utilized in accordance with the pubertal status.
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3-Oxo-5-alfa-Esteroide 4-Deshidrogenasa/deficiencia , 3-Oxo-5-alfa-Esteroide 4-Deshidrogenasa/genética , Dihidrotestosterona/sangre , Trastornos del Desarrollo Sexual/complicaciones , Neoplasias de los Genitales Femeninos/etiología , Neoplasias de los Genitales Masculinos/etiología , Testosterona/sangre , Adolescente , Adulto , Niño , Preescolar , Aberraciones Cromosómicas , Trastornos del Desarrollo Sexual/metabolismo , Trastornos del Desarrollo Sexual/patología , Femenino , Estudios de Asociación Genética , Neoplasias de los Genitales Femeninos/metabolismo , Neoplasias de los Genitales Femeninos/patología , Neoplasias de los Genitales Masculinos/metabolismo , Neoplasias de los Genitales Masculinos/patología , Humanos , Lactante , Recién Nacido , Masculino , Estudios Retrospectivos , Factores de Riesgo , Factores Sexuales , Maduración Sexual , Turquía , Adulto JovenRESUMEN
PURPOSE: The aims of the present study are to evaluate the effect of L-dopa on the secretion of cortisol and adrenocorticotropic hormone (ACTH) in short children and compare the performance of this test with the insulin tolerance test (ITT) in a large number of patients. METHODS: A total of 29 short but otherwise healthy children [mean age 9.5 ± 3.1 years (range 3.7-14.9 years)] who had inadequate growth hormone (GH) responses to ITT, which was performed as the first test, were consecutively enrolled in this study. GH, cortisol, and ACTH levels were measured just before administration of L-dopa and then at 30-min intervals afterward over a total time of 120 min. Peak concentrations of cortisol and ACTH exceeding 18 µg/dL (496 mmol/L) and 46 pg/mL (10.2 pmol/L), respectively, were defined as an adequate response. RESULTS: While the L-dopa test revealed that 26 of the 29 children (89.7%) had peak serum cortisol levels of > 18 µg/dL, the ITT revealed that only 23 children (79.3%) had adequate cortisol responses. The L-dopa test revealed normal ACTH responses (> 46 pg/mL) in 24 (82.8%) patients. Peak cortisol levels were higher in children with normal ACTH responses than in those with subnormal ACTH responses (25.6 ± 6.2 vs. 19.5 ± 6.4 µg/dL, p = 0.054), but the difference observed was statistically insignificant. CONCLUSION: The results of the current study confirm that the L-dopa test is a reliable test of cortisol secretion. As such, this test may be applicable to assessments of the hypothalamic-pituitary-adrenal axis.
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Insuficiencia Suprarrenal/diagnóstico , Biomarcadores/sangre , Trastornos del Crecimiento/complicaciones , Hidrocortisona/sangre , Insulina/sangre , Levodopa/sangre , Adolescente , Insuficiencia Suprarrenal/sangre , Insuficiencia Suprarrenal/etiología , Niño , Preescolar , Femenino , Estudios de Seguimiento , Prueba de Tolerancia a la Glucosa , Humanos , Hidrocortisona/metabolismo , Masculino , Pronóstico , Estudios ProspectivosRESUMEN
Steroidogenic factor-1 (SF-1), also known as nuclear receptor subfamily 5 group A member 1 (NR5A1), is a member of orphan receptor subfamily and located on chromosome 9 (9q33). In 46, XY individuals with mutation of SF-1 gene, adrenal failure, testis dysgenesis, androgen synthesis defects, hypospadias and anorchia with microphallus, infertility can occur from severe to mild. We report a case of a 20-day-old male who is admitted to our clinic due to ambiguous genitalia. In this report, we describe a novel heterozygous c.814A > C (p. T272P) NR5A1 mutation in a patient with 46, XY DSD without adrenal insufficiency. We describe a novel missense mutation c.814A > C (p. T272P) in NR5A1 gene which had not previously been reported. Also this report highlights that the potential diagnostic utility of next-generation sequencing is an effective strategy versus Sanger sequencing to identify genetic mosaicism in clinical practice.
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Trastorno del Desarrollo Sexual 46,XY/genética , Predisposición Genética a la Enfermedad , Hipospadias/genética , Mutación Missense , Factores de Empalme de ARN/genética , Insuficiencia Suprarrenal/genética , Humanos , Recién Nacido , MasculinoRESUMEN
Familial Mediterranean fever (FMF) is an autosomal recessive, inherited autoinflammatory disease characterized by recurrent, self-limited attacks of fever, and inflammation of serosal surfaces. The aim of our study was to determine a possible relationship between Vitamin D receptor (VDR) gene polymorphisms and the risk of children with FMF. We investigated VDR FokI (rs10735810), TaqI (rs731236), BsmI (rs1544410), and ApaI (rs7975232) polymorphisms in 50 children with FMF and 150 age-matched healthy control subjects. This study was performed by polymerase chain reaction-based restriction fragment length polymorphism. There was no significant difference between patients and controls for VDR FokI, TaqI, BsmI, and ApaI genotypes and alleles (p > 0.05). Results need to be supported by further investigations that define haplotype patterns for VDR gene polymorphisms in a larger group and different ethnic groups of FMF patients.
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Fiebre Mediterránea Familiar/genética , Polimorfismo de Longitud del Fragmento de Restricción , Receptores de Calcitriol/genética , Adolescente , Alelos , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Estudios de Asociación Genética , Genotipo , Haplotipos , Humanos , Masculino , Riesgo , Turquía/epidemiologíaRESUMEN
AIM: We aimed to investigate serum nesfatin-1 level in girls with premature thelarche (PT) and its relationship with anthropometric parameters and leptin, which are involved in the initiation of pubertal process. SUBJECTS-METHODS: Non-obese girls who presented with the complaint of early (2-8 years) and isolated breast development were included in the study. The control group consisted of age-matched healthy prepubertal girls. Auxological measurements were performed in all subjects. Gonadotropin-releasing hormone (GnRH) stimulation test and bone age assessment were conducted in subjects with early breast development. Girls with a bone age/chronologic age ratio <1.2 and a peak luteinizing hormone (LH) response to GnRH stimulation <5 mIU/L were included in the PT group. RESULTS: The study included 22 non-obese girls with PT and 24 healthy prepubertal controls. Body mass index (BMI), BMI-standard deviation score (SDS) and height SDS were similar between the groups (p > 0.05). Serum leptin and nesfatin-1 levels were found significantly higher in the PT group compared to controls (p < 0.05). No correlation was detected between nesfatin-1 and basal LH, basal follicle stimulating hormone (FSH), stimulated peak LH, peak FSH, leptin levels and anthropometric parameters in the PT group (p > 0.05). CONCLUSION: Results of the present study showed that serum nesfatin-1 and leptin levels are significantly higher in girls with PT than in prepubertal controls. This finding suggests that similar to leptin, nesfatin-1 may also have a central or peripheral role in the initiation of pubertal process and may be related to PT pathogenesis.
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Proteínas de Unión al Calcio/sangre , Proteínas de Unión al ADN/sangre , Leptina/sangre , Proteínas del Tejido Nervioso/sangre , Obesidad , Pubertad Precoz/sangre , Pubertad Precoz/diagnóstico , Biomarcadores/sangre , Niño , Preescolar , Femenino , Humanos , NucleobindinasRESUMEN
Endocrine neoplasms comprise a variety of benign and malign tumors that arise from the endocrine glands or neuroendocrine tissues. Although most endocrine neoplasms are sporadic, others are secondary to mutations of many known tumor-predisposing genes. Endocrine cancer syndromes, including Multiple Endocrine Neoplasia type 1 (MEN1), Multiple Endocrine Neoplasia type 2 (MEN2A and MEN2B), Multiple Endocrine Neoplasia type 4 (MEN4) syndromes, and inherited syndromes with different endocrine neoplasms (von Hippel-Lindau disease, Carney complex, Neurofibromatosis type 1, others) are heterogeneous group of cancer susceptibility syndromes that affect one or more of the endocrine glands or neuroendocrine tissues. Genetic studies and researches as well as technological possibilities allowed for detection of new endocrine cancer syndromes and genes leading to tumor susceptibility. In addition, early detection of children at risk for endocrine cancer syndromes using molecular analysis methods provided opportunity to regular monitoring of potential malignancies and timely intervention for these cases (e.g. early prophylactic thyroidectomy in MEN2). This review will describe the clinical, genetic, diagnostic and therapeutic options for endocrine cancer syndromes based on the current literature data.
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Neoplasias de las Glándulas Endocrinas/patología , Neoplasia Endocrina Múltiple/patología , Tumores Neuroendocrinos/patología , Detección Precoz del Cáncer , Neoplasias de las Glándulas Endocrinas/diagnóstico , Neoplasias de las Glándulas Endocrinas/terapia , Predisposición Genética a la Enfermedad , Pruebas Genéticas/métodos , Humanos , Técnicas de Diagnóstico Molecular , Neoplasia Endocrina Múltiple/diagnóstico , Neoplasia Endocrina Múltiple/terapia , Mutación , Síndromes Neoplásicos Hereditarios/diagnóstico , Síndromes Neoplásicos Hereditarios/patología , Síndromes Neoplásicos Hereditarios/terapia , Tumores Neuroendocrinos/diagnóstico , Tumores Neuroendocrinos/terapiaRESUMEN
This is the first clinical study evaluating the relation of serum omentin 1 levels with anthropometric and metabolic parameters in obese children with a particular interest to identify the possible role of omentin 1 in childhood obesity and related metabolic disturbances.The study included obese children with a body mass index (BMI)>95th percentile and healthy children with a BMI<85th percentile. The healthy and obese subjects had similar age and gender distribution. Glucose, insulin, lipid profile, and omentin 1 levels were measured to evaluate the metabolic parameters.49 obese children who applied to our department with complaint of weight gain and 30 healthy age and sex matched subjects were enrolled. In obese children BMI, body mass index-standard deviation score (BMI-SDS), systolic blood pressure (SBP), diastolic blood pressure (DBP), mid-arm circumference (MAC), triceps skin fold (TSF), waist circumference (WC), homeostasis model assessment-insulin resistance (HOMA-IR), serum insulin, and triglyceride levels were higher whereas omentin-1 levels were lower than control subjects (p<0.05). In the obese group, omentin 1 level was negatively correlated with BMI, insulin, HOMA-IR, and WC, while no significant correlation was observed with other parameters (p>0.05). Additionally, although statistically insignificant, patients with IR (n=31) had lower omentin-1 levels compared to obese children without IR (n=18).Our data indicates that serum omentin 1 levels are i) lower in obese children and ii) negatively correlated with BMI, WC, HOMA-IR and insulin levels suggesting that omentin 1 might be a biomarker for metabolic dysfunction also in childhood and adolescence. Lower omentin 1 levels tended to be associated with insulin resistance however this association failed to reach statistical significance. Further studies in larger populations are needed to better-define the relation of omentin 1 and insulin resistance in obese children.
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Citocinas/sangre , Resistencia a la Insulina , Lectinas/sangre , Obesidad/sangre , Adolescente , Presión Sanguínea , Índice de Masa Corporal , Niño , Femenino , Proteínas Ligadas a GPI/sangre , Humanos , Masculino , Obesidad/patología , Obesidad/fisiopatología , Circunferencia de la CinturaRESUMEN
Permanent neonatal diabetes mellitus is a rare condition mostly due to heterozygous mutations in the KCNJ11, ABCC8 and INS genes. Neonatal diabetes due to pancreatic agenesis is extremely rare. Mutations in PDX1, PTF1A, HNF1B, EIF2AK3, RFX6 and GATA6 genes have been shown to result in pancreatic agenesis or hypoplasia. This report describes a 40-day-old male infant diagnosed with permanent neonatal diabetes associated with atrial septal defect, pulmonary stenosis, patent ductus arteriosus and a novel de novo heterozygous missense mutation (p.N466S) in the GATA6 gene with no evidence of exocrine pancreas insufficiency. In addition to permanent neonatal diabetes, the patient had transient idiopathic neonatal cholestasis and hypoglycaemic episodes unrelated to insulin treatment, features that are rarely described in children with permanent neonatal diabetes.
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Diabetes Mellitus/genética , Factor de Transcripción GATA6/genética , Cardiopatías Congénitas/genética , Anomalías Múltiples/genética , Cardiopatías Congénitas/complicaciones , Humanos , Lactante , Masculino , Mutación Missense , Estenosis de la Válvula Pulmonar/complicaciones , Estenosis de la Válvula Pulmonar/congénito , Estenosis de la Válvula Pulmonar/genéticaRESUMEN
OBJECTIVE: Metabolic syndrome (MS) is common among the patients with myocardial infarction. The degree of the left ventricular systolic dysfunction is shown to be associated with poor prognosis after myocardial infarction. The aim of this study was to evaluate the prevalence of MS and its impact on the left ventricular systolic function in non-diabetic patients suffering first ST elevation myocardial infarction (STEMI). MATERIAL AND METHODS: This study was conducted prospectively in three centers. We included patients presenting with non-diabetic first acute STEMI. The systolic functions of the left ventricle were assessed through the ejection fraction, the wall motion score index (WMSI) and tissue Doppler myocardial S wave velocities. The diagnosis of MS was done based on the Adult Treatment Panel III clinical definition of the MS. RESULTS: Among the 240 patients, 90 patients (37.5%) had MS but 150 patients (62.5%) were free of the MS. The patients in the MS group were older and the prevalence was higher among the females. Mean myocardial S wave velocities were significantly lower in the patients with the MS in comparison to the patients without the MS (6.70 +/- 1.68 vs. 7.39 +/- 1.64; p < 0.01). LVEF and WMSI were similar in two groups. CONCLUSIONS: MS was highly common in nondiabetic patients with acute STEMI and left ventricular systolic function were more severely impaired in these patients. Our observations suggest that more severely impaired left ventricular systolic function after acute STEMI may contribute to the higher morbidity and mortality seen in the patients with MS after acute STEMI.
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Síndrome Metabólico/epidemiología , Síndrome Metabólico/fisiopatología , Infarto del Miocardio/fisiopatología , Función Ventricular Izquierda/fisiología , Anciano , Anciano de 80 o más Años , Electrocardiografía , Femenino , Humanos , Lípidos/sangre , Masculino , Síndrome Metabólico/complicaciones , Persona de Mediana Edad , Infarto del Miocardio/complicaciones , Infarto del Miocardio/diagnóstico por imagen , Ultrasonografía , Disfunción Ventricular Izquierda/fisiopatologíaRESUMEN
BACKGROUND: Cadmium (Cd) is a toxic heavy metal and the components of tobacco and scalp hair effectively reflect a long-term environmental exposure. OBJECTIVE: The aim of this study was to assess the concentration of Cd levels in the hair of children with recurrent wheezing, and to evaluate the predictors of elevated Cd levels with a focus on anthropometric, environmental, and dietary factors. METHODS: In this case-control study, scalp hair was obtained from 65 children with recurrent wheezing (RW) and from 65 healthy children (HC). Hair Cd concentrations were determined by ICP-MS. RESULTS: Median (IQR) hair Cd levels were 0.22 µg/kg (0.10-0.35) in RW group and 0.12 µg/kg (0.04-0.23) in HC group (p = 0.013). Multivariable logistic regression model results showed that being a child with RW (OR = 6.28; p = 0.001), ETS exposure at home (OR=22.56; p < 0.001), and mother's education level (OR = 0.49; p = 0.020), are the major predictor variables for elevated hair Cd levels (cut off >0.17 µg/kg). In RW group, multivariable logistic regression results showed that hair Cd levels of >0.17 µg/kg was significantly predictive of having three or more wheezing episodes in RW group after adjustment for ETS exposure at home (OR = 5.48; p = 0.012). CONCLUSION: We demonstrated that the more children are exposed to ETS at home, the more they are exposed to heavy metals like Cd. Especially children who have had three or more wheezing attacks over the last six months are much more susceptible than the other asthmatic and non-asthmatic children, and Cd exposure aggravates their asthmatic status.
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Cadmio/análisis , Cabello/química , Ruidos Respiratorios/etiología , Contaminación por Humo de Tabaco/efectos adversos , Cadmio/efectos adversos , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Humanos , Lactante , Modelos Logísticos , MasculinoRESUMEN
AIM: To determine the relation of echocardiographic subepicardial adipose tissue (SAT) thickness with anthropometric and clinical parameters in pubertal obese children. SUBJECTS AND METHODS: A total of 52 obese pubertal subjects (13.1±1.56 yr, 27 male patients) and 39 age- and gender-matched lean pubertal subjects (13.0±1.28 yr, 16 male patients) were included in the study. Serum glucose, lipid profile, and insulin levels were measured during the fasting state. Each subject underwent a transthoracic echocardiography and the SAT thickness was measured during end-diastole from the parasternal long-axis views. RESULTS: The obese pubertal subjects had significantly higher SAT, triceps skin fold (TSF) thickness (mm), waist (WC) and mid-arm circumference (MAC) values (cm) compared with lean pubertal subjects group (p<0.05). Correlation analysis showed that SAT thickness was significantly related with age, SD score-body mass index (SDS-BMI), BMI, WC, MAC, TSF, and homeostasis model assessment of insulin resistance (HOMA-IR) (p<0.05), whereas there was no significant relation of SAT with hip circumference and waist to hip ratio (p>0.05). As an optimal cut-off point, a SAT thickness of 5.25 mm determined IR with 92% sensitivity and 62.1% specificity. CONCLUSIONS: Our study showed that SAT thickness in obese pubertal children shows a good correlation with age, SDS-BMI, BMI, WC, MAC, TSF, and HOMA-IR. In addition, our results suggest that SAT thickness might be used as a supportive data for risk stratification of metabolic syndrome in obese children.
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Tejido Adiposo/patología , Obesidad/patología , Pubertad , Adolescente , Antropometría , Índice de Masa Corporal , Estudios de Casos y Controles , Niño , Ecocardiografía , Femenino , Humanos , Resistencia a la Insulina/fisiología , Masculino , Obesidad/diagnóstico por imagen , Obesidad/fisiopatología , Tamaño de los Órganos , Pericardio , Pubertad/fisiología , Delgadez/diagnóstico por imagen , Delgadez/patología , Delgadez/fisiopatologíaRESUMEN
AIM: Until now, the association between subepicardial adipose tissue (SAT), insulin resistance and intima-media thickness (IMT) has not been evaluated in obese children. In this study, we evaluated whether echocardiographic SAT is related to insulin resistance and IMT in obese children. SUBJECTS AND METHODS: A total of 46 obese subjects (10.2+/-2.5 years of age, 25 male patients) and 30 age- and gender-matched lean subjects (10.8+/-3.1 years of age, 13 male patients) were included in this study. The criterion for diagnosing obesity was defined as the body mass index (BMI) being over 97% percentile of the same gender and age. Serum triglyceride (TG), low- and high-density lipoprotein, cholesterol, glucose and insulin levels were measured during the fasting state. Each subject underwent a transthoracic echocardiogram and the SAT thickness was measured during end-diastole from the parasternal long-axis views. RESULTS: The obese subjects had significantly higher SAT thickness and IMT values compared with the subjects in the control group (5.7+/-1.4 vs 3.0+/-0.7 mm, 0.78+/-0.15 vs 0.51+/-0.11 mm, P=0.001, respectively). Simple linear regression analysis showed no significant correlation between SAT and insulin resistance (r=0.170, P=0.253), whereas there was significant correlation between SAT and BMI, age and IMT (r=0.625, P=0.02, r=0.589, P=0.001, r=0.343, P=0.02, respectively). As an optimal cutoff point, a SAT thickness of 4.1 mm determined insulin resistance with 90% sensitivity and 61% specificity. CONCLUSIONS: Our study showed that SAT was significantly correlated with age, BMI and IMT, but not insulin resistance. However, our findings suggest that a 4.1 mm cutoff of SAT thickness might be used as a simple, inexpensive and non-invasive screening method because of its ability to predict insulin resistance with high sensitivity in obese children.
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Tejido Adiposo/diagnóstico por imagen , Resistencia a la Insulina , Obesidad/metabolismo , Pericardio/diagnóstico por imagen , Túnica Íntima/diagnóstico por imagen , Túnica Media/diagnóstico por imagen , Tejido Adiposo/metabolismo , Antropometría , Niño , Intervalos de Confianza , Femenino , Humanos , Masculino , Obesidad/complicaciones , Estudios Prospectivos , Factores de Riesgo , Sensibilidad y Especificidad , UltrasonografíaRESUMEN
Two sisters were admitted separately at different times (ages 15 and 12 years, respectively) to our unit because of amenorrhea, lack of secondary sex characteristics, and short stature. No evidence of other congenital anomalies was found. Laboratory studies indicated hypergonadotropic hypogonadism. Peripheral blood samples revealed normal 46,XX karyotype for both patients. No gonads were visualized by ultrasonography. The two cases underline the need to take familial ovarian dysgenesis into consideration in female patients with short stature, lack of secondary sex characteristics, normal karyotypes, and similar sibling histories.
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Disgenesia Gonadal/genética , Ovario/anomalías , Hermanos , Adolescente , Niño , Femenino , Humanos , Hipogonadismo/genéticaRESUMEN
OBJECTIVE: To determine prevalence of the metabolic syndrome (MS) in a sample representing Turkish population using United States Adult Treatment Panel-3 guidelines. DESIGN: The study included random samples from both urban and rural populations in the seven geographical regions of Turkey. The population for this analysis were 2108 men (1372 in urban and 736 in rural areas) and 2151 women (1423 in urban and 728 in rural areas) with a mean age of 40.9+/-14.9 years (range 20-90). RESULTS: The prevalence of the MS diagnosed using the Adult Treatment Panel III criteria was 33.9% (1442 of 4259) and differed significantly in men (28%) and women (39.6%). The prevalence of syndrome increased with age in men, from 10.7% in subjects aged 20-29 years to 49% in those aged over 70 years. The prevalence increased with age in women, from 9.6% in subjects aged 20-29 years to 74.6% in those aged 60-69 years, and decreased to 68.6% in those over 70 years of age. The prevalence of the syndrome was similar in urban (33.8%) and rural (33.9%) population. We found 26.8, 26.4, 19.3, 10.9 and 3.6% of the population had at least 1, 2, 3, 4 or 5 components, respectively. We found 57.2, 32.3 and 10.6% of the subjects with MS had 3, 4 and 5 components, respectively. CONCLUSIONS: The prevalence of the MS in the adult Turkish population is very high, especially in women. Our findings have important implications for public health in Turkey.
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Enfermedades Cardiovasculares/epidemiología , Síndrome Metabólico/epidemiología , Obesidad/epidemiología , Salud Rural , Salud Urbana , Adulto , Factores de Edad , Anciano , Anciano de 80 o más Años , Envejecimiento/fisiología , Enfermedades Cardiovasculares/sangre , Estudios Transversales , Femenino , Humanos , Masculino , Síndrome Metabólico/sangre , Persona de Mediana Edad , Obesidad/sangre , Prevalencia , Factores Sexuales , Turquía/epidemiologíaRESUMEN
Although the management and the control rates of hypertension are generally low throughout the world, there are substantial differences between the countries. The aim of this study was to determine the control rate of blood pressure and the characteristics of the patients who have been admitted to primary care units in Turkey. Our study included 16,270 patients aged above 18 years who were diagnosed as hypertensive in representative nationwide sample of 1,000 primary care units in Turkey. The mean age of the patients was 60+/-11 years (60.1% women). Of 16,270 patients, 15 187 (93.3%) were on an antihypertensive treatment, whereas 1,083 (6.7%) were receiving no treatment. The patients who were women, diabetic, smoker, obese, and those who had a concomitant cardiovascular disease (CVD) had a higher rate of antihypertensive treatment. Of 15,187 treated patients, 4,912 (30.2%) had a controlled systolic blood pressure, 7,063 (43.4%) a controlled diastolic blood pressure, and in 3,931 (24.2%), both were under control. A logistic regression analysis demonstrated that age (OR 1.33), diabetes (OR 4.96), body mass index (OR 1.41) and the presence of a CVD (OR 1.19) were predictors for blood pressure being under control. The blood pressure control rates ranged between 16.6 and 30.5% among seven geographical regions. In the primary care units in Turkey, the blood pressure control rate is consistently low in treated hypertensive patients. In addition, there are differences between the geographical regions in both the proportion of those receiving medications and the blood pressure control rates.
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Hipertensión/prevención & control , Atención Primaria de Salud , Adulto , Anciano , Antihipertensivos/uso terapéutico , Índice de Masa Corporal , Distribución de Chi-Cuadrado , Estudios Transversales , Femenino , Humanos , Hipertensión/epidemiología , Modelos Logísticos , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Factores de Riesgo , Encuestas y Cuestionarios , Turquía/epidemiologíaRESUMEN
Resting (99m)Tc-tetrofosmin (TF) uptake was compared with thallium ((201)Tl) rest-redistribution (R-RD) uptake in patients with previous myocardial infarction (MI) and significant coronary artery disease (CAD) to assess the ability of TF to detect viable myocardium. We studied 30 patients (21 males and nine females, mean age 53.9+/-12.5 years) with prior MI and left ventricular dysfunction who had been referred for coronary revascularization procedures. Myocardial single photon emission computed tomography (SPECT) images were obtained 1 h after injection of 750 MBq of TF. Within 1 week of the TF study, R-RD (201)Tl SPECT imaging was performed after injection of 111 MBq of (201)Tl . Quantitative analysis was performed in 21 segments. Viability was defined as the presence of tracer uptake greater than 50% of the peak activity on baseline studies or after reversibility. There was significant correlation between the quantitative regional R-RD (201)Tl activity and the resting TF activity (r=0.88, P<0.001). Quantitative analysis showed that the uptake of the two tracers was comparable in normal segments as well as in segments with fixed (201)Tl defects. In contrast, in segments with reversible (201)Tl defects, TF uptake was significantly greater than resting (201)Tl uptake, but lower than R-RD (201)Tl uptake. There were 52 segments (47% of the severely reduced segments on TF images) that showed no viability with TF, but were viable on the redistribution (201)Tl studies. We conclude that quantitative resting TF SPECT underestimates the presence of viable myocardium compared with R-RD (201)Tl imaging on the basis of using 50% of the peak activity as the viability threshold.
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Enfermedad Coronaria/diagnóstico por imagen , Infarto del Miocardio/diagnóstico por imagen , Compuestos Organofosforados/farmacocinética , Compuestos de Organotecnecio/farmacocinética , Radiofármacos/farmacocinética , Radioisótopos de Talio/farmacocinética , Tomografía Computarizada de Emisión de Fotón Único , Adulto , Anciano , Transporte Biológico , Enfermedad Coronaria/metabolismo , Femenino , Humanos , Procesamiento de Imagen Asistido por Computador , Masculino , Persona de Mediana Edad , Infarto del Miocardio/metabolismo , Revascularización Miocárdica , Distribución Tisular , Disfunción Ventricular Izquierda/diagnóstico por imagen , Cicatrización de HeridasRESUMEN
Complications related to percutaneous placement of intra-aortic balloon pump counterpulsation are still high despite major refinements in catheter design and techniques. One hundred and forty-eight patients in whom intra-aortic balloon pumping was inserted were classified into two groups on the basis of the insertion technique. Group I included 103 patients in whom the conventional percutaneous insertion was used. A sheathless insertion technique was used in group II (n = 45). The overall complication rate was 16.6% (25 of 150), in which lower limb ischaemia was the most common complication. The limb ischaemia was noted in 12 patients (11.5%) in group I and 4 patients (8.9%) in group II (statistically not significant). Peripheral vascular disease, diabetes mellitus and female gender were found to be significant predictors of limb ischaemia (p = 0.01, p = 0.02 and p = 0.03, respectively). In conclusion, sheathless insertion of intra-aortic balloon pump catheters does not reduce the incidence of limb ischaemia.
Asunto(s)
Cardiopatías/terapia , Contrapulsador Intraaórtico/efectos adversos , Isquemia/etiología , Pierna/irrigación sanguínea , Adulto , Anciano , Anciano de 80 o más Años , Diseño de Equipo , Femenino , Humanos , Incidencia , Isquemia/epidemiología , Masculino , Persona de Mediana Edad , Pronóstico , Estudios Retrospectivos , Factores de RiesgoRESUMEN
BACKGROUND: Dust mite antigens are major sources of allergens in house dust and together with endotoxin, a proinflammatory component of gram negative bacteria also found in house dust, are important causes of tissue injury involved in the pathogenesis and severity of allergic diseases, eg, asthma. OBJECTIVE: To determine the effectiveness of vacuuming in reducing the quantity of dust mite antigens, Dermatophagoides pteronyssinus (Der p and Der p2) and endotoxin using a quantitative ELISA assay and to correlate results with those obtained using a qualitative rapid dipstick method for Der p2. METHODS: Four specimens of house dust were collected using a Kirby Model G5 vacuum cleaner with a Micron Magic Filtration system from an approximately 54" x 18" standardized area of rug from each of 20 homes at 4 time intervals over a 6-week period, ie, a baseline specimen #1 at 0 week; specimen #2 at 1 week; specimen #3 at 5 weeks (1 month after specimen #2); specimen #4 at 6 weeks (1 week after specimen #3). Three intervals were compared, ie, period 1-2 (1 week), period 2-3 (1 month), and period 3 to 4 (1 week). The concentrations of Der p1 and Der p2 were determined in dust samples using a standard ELISA assay and the concentration of endotoxin was detected using a limulus amebocyte lysate assay. Concentrations of Der p2, determined by the standard ELISA assay, were compared to those in the same samples determined by a rapid dipstick method. RESULTS: A wide range of values for total weight of unprocessed dust (0.3 to 59 g, X = 8.7) and finely sieved dust (0.1 to 19 g, X = 3) from all specimens were found. In finely sieved dust specimens the mean concentrations of Der p1, Der p2 and endotoxin were 775, 1310, and 3836 ng/g of dust, respectively. Following weekly vacuuming there was an increase in concentration of Der p1, Der p2, and endotoxin in 20%, 35%, and 63% of the houses, respectively, compared to in monthly vacuuming in which increases were seen in 65%, 50%, and 63% of the houses, respectively. In contrast, there was a decrease in concentration of Der p1, Der p2 and endotoxin with weekly vacuuming in 43%, 60%, and 37% of the houses respectively versus in monthly vacuuming in 15%, 35%, and 37% of the houses respectively. A correlation coefficient of 0.7 was found for the concentration of Der p2 in 37/40 samples tested detected using the ELISA method compared with rapid dipstick assay. CONCLUSION: The results of this study support the effectiveness of vacuuming on the reduction of dust mite antigens (Der p1 and Der p2) ie, Der p2 > Der p1. This reduction was more pronounced with weekly compared with monthly vacuuming. No reduction in the concentration of endotoxin was found. A good correlation was found between results obtained by ELISA and rapid dipstick assay for Der p2.