RESUMO
BACKGROUND: Ghrelin is a novel growth hormone-releasing peptide that causes a positive energy balance by stimulating food intake and inducing adiposity and has effects on growth. Many children with congenital heart disease (CHD) present with growth retardation and malnutrition owing to multifactorial reasons. AIM: To evaluate the circulating level of ghrelin in Egyptian children with congenital cyanotic and acyanotic heart disease and its relation to anthropometric measurements. MATERIALS AND METHODS: The study included 40 patients with cyanotic and acyanotic CHD (18 cyanotic and 22 acyanotic) and 18 age- and sex-matched healthy control children. All children were subjected to measurement of height, weight, body mass index (BMI) and serum ghrelin was measured using ELISA technique. RESULTS: Weight, height and BMI were significantly lower in cyanotic and acyanotic patients compared to the control group (p = 0.0001). Serum ghrelin levels were significantly higher in children with cyanotic and acyanotic CHD in comparison to the controls (p = 0.0001). There was a significant negative correlation between ghrelin and BMI in the three groups (r = -0.534, p = 0.023; r = -0.558, p = 0.007; r = -0.608, p = 0.007 respectively for cyanotic, acyanotic and the control groups). CONCLUSION: Circulating ghrelin level was elevated in children with congenital cyanotic and acyanotic heart disease, and was associated with a decrease in BMI. This elevation in ghrelin level may represent malnutrition and growth retardation in those patients as obvious by anthropometric measures too. This may suggest that ghrelin may have an important role as a compensatory mechanism in the regulation of the metabolic balance in them.
Assuntos
Grelina/sangue , Cardiopatias Congênitas/sangue , Adolescente , Antropometria , Estatura , Índice de Massa Corporal , Peso Corporal , Estudos de Casos e Controles , Criança , Pré-Escolar , Egito , Ensaio de Imunoadsorção Enzimática , Cardiopatias Congênitas/fisiopatologia , Humanos , Adulto JovemRESUMO
BACKGROUND AND OBJECTIVES: Systemic-onset juvenile idiopathic arthritis (SoJIA) is a chronic auto-inflammatory disease of childhood, with a complex genetic trait, which is characterized by arthritis associated with systemic manifestations. Familial Mediterranean fever (FMF) is another auto-inflammatory disorder that is monogenic. There are speculations as to whether Mediterranean fever (MEFV) mutations are among the genetic determinants of SoJIA. Our aim was to explore the frequency and clinical significance of MEFV mutations in Egyptian SoJIA patients. A group of healthy children were assigned to the control group in an attempt to estimate the carrier rate of MEFV mutations in Egypt. METHODS: Eighty-four children were recruited in this study; 54 children, age (mean ± standard deviation; 8.31 ± 2.85 years), diagnosed as having SoJIA with no typical symptoms of FMF; 30 healthy age- and gender-matched children served as the control group. All recruited children were screened for 12 common MEFV mutations using a reverse hybridization assay of biotinylated PCR products. RESULTS: SoJIA patients had a significantly higher frequency of MEFV mutations (66.7 %) than in the healthy control population (16.7 %). V726A was the leading mutation in SoJIA patients, with an allelic frequency of 15.74 %, followed by E148Q, with an allelic frequency of 7.4 %. Children who were carriers of MEFV mutations had an 18 times higher risk of developing SoJIA than wild-type carriers [odds ratio 18.0 (95 % CI 5-69), P < 0.01]. E148Q was the leading mutation, present in 13.3 % of healthy controls. CONCLUSION: These findings suggest that MEFV mutations may be responsible for auto-inflammatory diseases other than FMF, and patients with SoJIA, especially those with a positive family history of FMF or SoJIA, should be screened for MEFV mutations in countries where FMF is frequent.
Assuntos
Artrite Juvenil/genética , Proteínas do Citoesqueleto/genética , Adolescente , Artrite Juvenil/diagnóstico , Estudos de Casos e Controles , Criança , Pré-Escolar , Egito , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Lactente , Masculino , Mutação , PirinaRESUMO
OBJECTIVE: To assess the sensitivity and specificity of anti-Mullerian hormone (AMH) and inhibin B for diagnosis of 46,XY disorders of sex development (DSD). PATIENTS AND METHODS: The study included 43 patients of 46,XY DSD and compared them with 43 healthy, male, age matched controls. All patients underwent karyotyping, assessment of testosterone, dihydrotestosterone (DHT) and Δ4-androstendione (Δ4A) basal and after human chorionic gonadotropin (HCG) testing. Basal dehydroepiandrosterone (DHEA) was measured. Ultrasonograghy was also done and some cases underwent laparoscopy or gonadal biopsies. Basal AMH and inhibin B were measured in both cases and controls. RESULTS: The mean age of patients was 5.16±4.24 years. There were significant correlations between basal AMH and HCG stimulated testosterone and DHT (r=0.64; p<0.001 and r=0.52; p<0.001, respectively). Also, significant positive correlations were found between inhibin B and HCG as well as stimulated testosterone and DHT (r=0.62; p<0.001 and r=0.44; p=0.003, respectively). A highly significant correlation was found between AMH and inhibin B (r=0.78; p<0.001). The sensitivity of AMH was (96.6%), specificity (60.7%), NPV (89.5%) and PPV (83.6%). Best cut-off value was (27.11 IU/mL) while overall accuracy was (85%). The sensitivity of inhibin B was (96.6%), specificity (67.9%), NPV (90.5%), PPV (86.2%), and best cut-off value was (41.9 IU/mL) with an overall accuracy (87%). CONCLUSION: AMH and inhibin B are valuable, and reliable noninvasive parameters for the detection of functioning testicular tissues in prepubertal patients.
Assuntos
Hormônio Antimülleriano/sangue , Transtorno 46,XY do Desenvolvimento Sexual/diagnóstico , Inibinas/sangue , Adolescente , Androstenodiona/sangue , Criança , Pré-Escolar , Gonadotropina Coriônica/sangue , Estudos Transversais , Desidroepiandrosterona/sangue , Di-Hidrotestosterona/sangue , Transtorno 46,XY do Desenvolvimento Sexual/sangue , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Prospectivos , Sensibilidade e Especificidade , Testosterona/sangueRESUMO
The aim of the study was to assess umbilical cord ghrelin level in term and preterm newborns and its relation to other metabolic hormones and anthropometric measurements. A cross sectional comparative study included 50 normal appropriate-for-gestational-age newborns (25 full-terms; 25 preterm). Assessment of anthropometric measurements, cord levels of ghrelin, leptin, insulin and glucose were done to all newborns. Umbilical cord ghrelin was detected in all newborns. There was no significant difference between term and preterm groups regarding ghrelin, insulin and glucose. Leptin was significantly lower in preterm than term group. Sex and mode of delivery had no effects regarding all studied variables. There was no overall correlation between ghrelin and gestational age, anthropometric measurements, leptin, insulin or glucose in all newborns. Preterm group demonstrated significant correlations between ghrelin and weight, body mass index and abdominal circumference. An overall significant correlation was found between leptin and gestational age and anthropometric measurements in all newborns. In preterm group leptin correlated with weight, length, subscapular skin-fold thickness and abdominal circumference. To conclude the umbilical cord ghrelin was relatively invariable at birth between 30 and 41 weeks gestation showing no gestational age-related variation, unlike leptin, which was lower in preterm group indicating increased adipose mass and placental maturation with increased gestational age.
Assuntos
Grelina/análise , Recém-Nascido , Recém-Nascido Prematuro , Cordão Umbilical/química , Antropometria , Estudos Transversais , Feminino , Idade Gestacional , Humanos , Lactente , Leptina/análise , Masculino , GravidezRESUMO
Cardiovascular morbidity and mortality are highly prevalent among patients with chronic renal failure (CRF). Endothelial dysfunction is regarded as the initial reversible step in the development of atherosclerosis and has been demonstrated in all stages of renal failure. Non-invasive techniques to assess endothelial function have been recently developed and have been proven to predict future mortality in adults. We aimed to assess endothelial function in children with stage 4 chronic kidney disease (CKD 4) on conservative treatment, using a-non invasive, high-resolution, ultrasound Doppler study of the brachial artery flow, correlating it with other clinical and laboratory parameters. This study included 34 children with CKD 4 on conservative treatment who were compared with 30 healthy controls. Flow-mediated dilatation (FMD), nitroglycerin-mediated dilatation (NTG-MD) and FMD/NTG-MD ratio were estimated. FMD was abnormal (< 5%) in 24 patients (71%). FMD and FMD/NTG-MD ratio were significantly lower in patients than in controls (P = 0.001 and P = 0.01, respectively). FMD correlated positively with serum calcium and negatively with alkaline phosphatase. We concluded that endothelial dysfunction is present in children with CKD 4 on conservative treatment and may reflect increased atherogenic and thrombogenic properties of the endothelium, contributing to subsequent adverse cardiovascular outcome.