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PURPOSE: The aim of this prospective case-control study was to determine the effect on the voice of type 1 diabetes mellitus (T1DM) in paediatric patients. MATERIALS AND METHODS: The study included patients aged 6-18 years followed up for at least 1 year because of T1DM, and a control group of age and gender-matched healthy volunteers. Following an Ear, Nose, and Throat (ENT) examination, all subjects underwent flexible endoscopic laryngeal examination. Fasting venous blood samples were taken in the morning for the examination of fasting blood glucose (FBG), HgbA1C, and kidney, liver, and thyroid function tests. Data were recorded from the patient files of age, gender, comorbidities, and the development of diabetes-related complications. Voice recordings were taken and the Voice Handicap Index (VHI)-10 form was completed. The patients and control group were compared in respect of the parameters of fundamental frequency, jitter, shimmer, and acoustic voice quality index (AVQI). RESULTS: Evaluation was made of 64 children and adolescents as 32 in the patient group (Group 1) and 32 healthy control subjects (Group 2). Group 1 comprised 17 females and 15 males with a mean age of 12.75 ± 3.23 years. Group 2 comprised 17 females and 15 males with a mean age of 12.75 ± 3.33 years. In Group 1, mean disease duration was 5.21 ± 3.17 years (range, 1-13 years), the FBG value was mean 216.6 ± 122.3 mg/dl, mean HgbA1c was 10.7 ± 2.8, as ≤ 7 in 4 patients, 7-9 in 4, and > 9 in 24. Maximum phonation time (MPT) was determined as 10.66 ± 3.6 secs in Group 1 and 12.11 ± 4.43 in Group 2. VHI was determined as 2.33 ± 3 in Group 1 and 2.31 ± 2.77 in Group 2. No statistically significant difference was determined between the groups was determined in respect of acoustic analysis, perturbation parameters, AVQI and body mass index. CONCLUSIONS: This study is the first to have investigated the effects of T1DM on the voice in paediatric patients. The study results showed that the AVQI value was higher in the patient group but not to a statistically significant level. Therefore, there is a need for further studies with larger samples. The current study can be of guidance for further studies in this field.
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Diabetes Mellitus Tipo 1 , Fonación , Adolescente , Niño , Femenino , Humanos , Masculino , Estudios de Casos y Controles , Diabetes Mellitus Tipo 1/fisiopatología , Laringe/diagnóstico por imagen , Fonación/fisiología , Acústica del Lenguaje , Calidad de la Voz/fisiología , Estudios de Seguimiento , EndoscopíaRESUMEN
INTRODUCTION: Obesity is usually related to insulin resistance and glucose metabolism disorders. The relationship between insulin resistance and epicardial adipose tissue and atrial electromechanical delay has been described in previous studies. AIM: This study aims to demonstrate the effects of metformin on epicardial adipose tissue and electromechanical delay in patients using metformin for insulin resistance. MATERIALS AND METHODS: A total of 30 patients using metformin for insulin resistance were included in the study. Pre-treatment and post-treatment epicardial adipose tissue and electromechanical delay were evaluated. RESULTS: There was a statistically significant decrease in epicardial adipose tissue thickness after 3 months of metformin therapy (6.4 ± 2.1 versus 4.7 ± 2.0; p = 0.008). Furthermore, the inter-atrial and intra-atrial electromechanical delay also significantly decreased after 3 months of metformin monotherapy (23.6 ± 8.2 versus 18.1 ± 5.8; p < 0.001, 9.1 ± 2.9 versus 6.3 ± 3.6; p = 0.003, respectively). CONCLUSION: In this study, we show that metformin monotherapy significantly decreases epicardial adipose tissue thickness and electromechanical delay in obese children.
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Resistencia a la Insulina , Metformina , Tejido Adiposo , Niño , Humanos , Obesidad/complicaciones , Obesidad/tratamiento farmacológico , Pericardio/diagnóstico por imagenRESUMEN
Background and Objective: Childhood obesity is one of the worldwide health problems with an increasing prevalence and accompanied by severe morbidity and mortality. It is a serious predisposing risk factor especially for the development of cardiovascular diseases and arrhythmias. Electromechanical delay (EMD) is known to be a predictor for the development of atrial fibrillation (AF). Our study aims to investigate whether EMD, which is a predictor of AF, prolongs in obese children or not. MATERIAL AND METHODS: The study included 59 obese patients aged between 8-18 years and 38 healthy patients as the control group with a similar age and gender. All the individuals underwent transthoracic echo and tissue Doppler echocardiography. Systolic and diastolic left ventricular (LV) functions, inter- and intra-atrial electromechanical delay were measured by tissue Doppler imaging (TDI) and conventional echocardiography. RESULTS: Obese patients had significantly lengthened P-wave on surface ECG to the beginning of the late diastolic wave (PA) lateral, PA septum, intra- and inter-atrial electromechanical delays when compared with the control group (p < 0.001, p = 0.001, p < 0.001 and p < 0.001, respectively) Inter-atrial EMD and intra-atrial EMD correlated positively with body mass index (BMI) values (r = 0.484, p < 0.001 and r = 0.376, p = 0.001; respectively) BMI was significantly related with inter-atrial EMD (ß = 0.473, p < 0.001) However, there was no relationship between inter-atrial EMD and serum glucose and platelet count. CONCLUSION: In our study, we declared that electromechanical delay was increased in obese children when compared to the control group and intra- and inter-atrial electromechanical delay was in correlation with body mass index. Furthermore, we discovered that BMI is an independent predictor of the inter-atrial EMD in obese children.
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Conductividad Eléctrica/clasificación , Atrios Cardíacos/fisiopatología , Obesidad/fisiopatología , Adolescente , Fibrilación Atrial/etiología , Fibrilación Atrial/fisiopatología , Índice de Masa Corporal , Niño , Ecocardiografía/métodos , Electrocardiografía/métodos , Femenino , Humanos , Masculino , Obesidad/complicaciones , Estudios Prospectivos , Factores de TiempoRESUMEN
Gonadotropin-releasing hormone (GnRH) is the central regulator of gonadotropins, which stimulate gonadal function. Hypothalamic neurons that produce kisspeptin and neurokinin B stimulate GnRH release. Inactivating mutations in the genes encoding the human kisspeptin receptor (KISS1R, formerly called GPR54), neurokinin B (TAC3), and the neurokinin B receptor (TACR3) result in pubertal failure. However, human kisspeptin loss-of-function mutations have not been described, and contradictory findings have been reported in Kiss1-knockout mice. We describe an inactivating mutation in KISS1 in a large consanguineous family that results in failure of pubertal progression, indicating that functional kisspeptin is important for puberty and reproduction in humans. (Funded by the Scientific and Technological Research Council of Turkey [TÜBITAK] and others.).
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Hipogonadismo/genética , Kisspeptinas/genética , Mutación , Pubertad/genética , Adolescente , Adulto , Niño , Consanguinidad , Femenino , Genes Recesivos , Técnicas de Genotipaje , Hormona Liberadora de Gonadotropina/metabolismo , Humanos , Masculino , Linaje , Análisis de Secuencia de ADNRESUMEN
OBJECTIVE: The spectrum of genetic alterations in cases of hypogonadotropic hypogonadism continue to expand. However, KISS1R mutations remain rare. The aim of this study was to understand the molecular basis of normosmic idiopathic hypogonadotropic hypogonadism. METHODS: Clinical characteristics, hormonal studies and genetic analyses of seven cases with idiopathic normosmic hypogonadotropic hypogonadism (nIHH) from three unrelated consanguineous families are presented. RESULTS: One male presented with absence of pubertal onset and required surgery for severe penoscrotal hypospadias and cryptorchidism, while other two males had absence of pubertal onset. Two of four female cases required replacement therapy for pubertal onset and maintenance, whereas the other two had spontaneous pubertal onset but incomplete maturation. In sequence analysis, we identified a novel homozygous nonsense (p.Y323X) mutation (c.C969A) in the last exon of the KISS1R gene in all clinically affected cases. CONCLUSIONS: We identified a homozygous nonsense mutation in the KISS1R gene in three unrelated families with nIHH, which enabled us to observe the phenotypic consequences of this rare condition. Escape from nonsense-mediated decay, and thus production of abnormal proteins, may account for the variable severity of the phenotype. Although KISS1R mutations are extremely rare and can cause a heterogeneous phenotype, analysis of the KISS1R gene should be a part of genetic analysis of patients with nIHH, to allow better understanding of phenotype-genotype relationship of KISS1R mutations and the underlying genetic basis of patients with nIHH.
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Codón sin Sentido/genética , Hipogonadismo/genética , Receptores Acoplados a Proteínas G/genética , Adolescente , Adulto , Humanos , Hipogonadismo/etiología , Masculino , Receptores de Kisspeptina-1 , Adulto JovenRESUMEN
BACKGROUND/AIM: The aim of the present study was to investigate the prevalence of obesity-related dermatoses in obese children, and the association between these dermatoses and insulin resistance as well as skin color. METHODS: Obese, overweight, and normal weight children according to body mass index who were followed up and treated in the outpatient clinics were included in the study. Dermatological examinations of the participants were performed, and fasting insulin and glucose levels were checked. RESULTS: The obese and overweight children were evaluated as the patient group (70 girls, 41 boys, mean age: 12.37 ± 3.14 years). One hundred one healthy children with normal weight were determined as the control group (59 girls, 42 boys, mean age: 12.15 ± 2.43). The first five common dermatoses in the patient group when compared with the control group were keratosis pilaris (KP), striae distensae, hyperhidrosis, acanthosis nigricans (AN), and plantar hyperkeratosis. The first five dermatoses which were positively correlated with formation and insulin resistance were KP, striae distensae, AN, hyperhidrosis, and plantar hyperkeratosis. According to the Fitzpatrick skin scale, we found that the darker the skin color, the higher the probability of AN and KP (OR, 0.298; 95% CI, 0.106-0.834, p = 0.021; OR, 0.306; 95% CI, 0.117-0.796, p = 0.015, respectively). CONCLUSION: Some dermatoses associated with obesity and insulin resistance were not found in obese children, or there was no significant association. These results indicate that many skin morbidities may be prevented by preventing and treating obesity and insulin resistance in the early period.
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Acantosis Nigricans , Enfermedad de Darier , Hiperhidrosis , Resistencia a la Insulina , Obesidad Infantil , Estrías de Distensión , Masculino , Femenino , Niño , Humanos , Adolescente , Sobrepeso/complicaciones , Sobrepeso/epidemiología , Insulina , Obesidad Infantil/complicaciones , Obesidad Infantil/epidemiología , Pigmentación de la Piel , Acantosis Nigricans/epidemiología , Acantosis Nigricans/etiología , Índice de Masa CorporalRESUMEN
Gaucher disease (GD) is the most frequent lysosomal storage disorder due to biallelic pathogenic variants in GBA gene. Only homozygous D409H variant has been associated with the cardiovascular phenotype which is also known as Gaucher disease type 3c. In this descriptive study, we presented phenotypic heterogeneity and a novel clinical finding among 13 patients with GD type 3c. Patients presented with varying degrees of cardiac valve and/or aortic calcifications (84,6%) and corneal opacities (76,9%) in addition to visceral (100%), hematological (92,3%), neurological (92,3%), and skeletal (30%) manifestations. Also, cervical dystonia (38,4%) and psychiatric disorders (46,1%) were not infrequent entities with respect to neurological involvement in GD type 3c. In this report, we highlight transient neonatal cholestasis (38,4%) as a novel finding in GD type 3c. Neonatal cholestasis is a finding associated with Gaucher type 2, but transient neonatal cholestasis has not been reported in GD patients, so far. The clinical features of GD type 3c are highly heterogeneous, from disease severity or age of onset to disease progression. Also, we concluded that phenotypic spectrum may be associated with age at onset of clinical symptoms. As, patients presenting in infancy or childhood had mainly visceral and hematological involvement and patients presenting in adolescence and adulthood had mainly cardiac, neurological involvement, and psychiatric behavioral disorders. Identifying the heterogeneous clinical course of these patients in this fatal disease, may lead a sufficient understanding of the pathophysiology which will enable targeted therapeutic interventions.
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Enfermedad de Gaucher , Hepatopatías , Humanos , Recién Nacido , Enfermedad de Gaucher/genética , Enfermedad de Gaucher/patología , Glucosilceramidasa/genética , Mutación , Fenotipo , HomocigotoRESUMEN
BACKGROUND: The aim of this study was to compare the chromium levels of plasma (PCL), erythrocyte (ECL) and urine (UCL) in type 1 diabetics and healthy subjects and to review the relation between metabolic parameters. METHODS: We evaluated 165 subjects who were: newly diagnosed type 1 diabetics (group 1 [n= 29]); previously diagnosed type 1 diabetics (group 2 [n= 18]); non-diabetic control subjects who were admitted and treated for any reason in hospital (group 3 [n= 21]); and two other groups of control subjects from two schools that have different socioeconomic levels (group 4 [n= 48] and group 5 [n= 49]). RESULTS: PCL in group 1 and group 2 subjects (7.21 ± 4.78 and 10.94 ± 3.04 mcg/L, respectively) was significantly lower than in all control groups (21.84 ± 7.87, 16.11 ± 7.44, 17.25 ± 8.58 mcg/L, respectively) (P < 0.05). A significant difference in PCL between the group 1 and group 2 subjects was present (7.21 ± 4.78 and 10.94 ± 3.04, respectively) (P= 0.021). ECL (as tissue chromium) in group 1 and group 2 subjects (13.99 ± 11.37 and 19.64 ± 12.58, respectively) was significantly lower than in all control groups (28.20 ± 7.34.25, 49 ± 12.47, 26.37 ± 9.77 mcg/L, respectively) (P= 0.05). UCL in group 1 and group 2 subjects (11.44 ± 6.88 and 15.68 ± 6.75 mcg/L, respectively) was significantly lower than in group 3 subjects (28.83 ± 9.37 mcg/L) (P < 0.05). There were significant correlations between length, bodyweight and PCL in the group 1 subjects (r = 0.42, P= 0.22 and r = 0.53, P= 0.03, respectively). There was a negative correlation between plasma glucose and UCL, which was not statistically significant in group 2 subjects (r =-0.4, P= 0.061). CONCLUSION: There was a negative chromium balance in type 1 diabetics. This negative balance may affect the insulin function badly. If this negative balance should be confirmed by recent studies we suggest that chromium supplementation with insulin is necessary for type 1 diabetes.
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Cromo/sangre , Cromo/orina , Diabetes Mellitus Tipo 1/metabolismo , Biomarcadores/sangre , Biomarcadores/orina , Niño , Preescolar , Diabetes Mellitus Tipo 1/diagnóstico , Femenino , Hemoglobina Glucada/metabolismo , Humanos , Lactante , Insulina/sangre , MasculinoRESUMEN
We aimed to investigate the effects of age onset of diabetes, glycemic control and frequency of hypoglycemia on neurocognitive functions in type I diabetic children. Sixty type I diabetic children with diagnosis before (Group 1) or after (Group 2) five years of age and 40 healthy children were tested. Wechsler Intelligence Scale for Children Revised (WISC-R), Stroop Test, and Visual Auditory Digit Span Test Form B were applied to all children in the two groups. Neurocognitive functions such as visual perception, short-term memory and selective attention were seen to be negatively affected at a significant level. Group 1 patients with poor glycemic control were found to have significant dysfunction in verbal, performance and general intelligence. Neurocognitive functions were negatively affected by early onset of diagnosis, poor glycemic control and frequent hypoglycemia in children with type I diabetes mellitus. We suggest that negative effects on neurocognitive functions in type I diabetes should be considered in the follow-up of these patients.
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Trastornos del Conocimiento/diagnóstico , Diabetes Mellitus Tipo 1/metabolismo , Diabetes Mellitus Tipo 1/psicología , Análisis de Varianza , Glucemia/análisis , Distribución de Chi-Cuadrado , Niño , Preescolar , Femenino , Humanos , Pruebas de Inteligencia , Masculino , Pruebas Neuropsicológicas , Estadísticas no ParamétricasRESUMEN
WISP3 is a member of the CCN (for CTGF, CYR61, and NOV) gene family, which encodes cysteine-rich secreted proteins with roles in cell growth and differentiation. Mutations in the WISP3 gene are associated with the autosomal recessive skeletal disorder, also known as progressive pseudorheumatoid arthropathy of childhood (PPAC). We diagnosed three siblings from a non-consanguineous family with PPAC. The patients were asymptomatic in early childhood. Signs and symptoms of disease that include progressive joint stiffness, swelling of the finger joints, and osteopenia, and slow linear growth developed between 2 and 8 years of age. PCR amplification and direct sequencing of the WISP3 gene revealed a homozygous mutation at nucleotide 156 of the WISP3 gene, resulting in a Cys52-to-ter substitution. This mutation has previously been reported in French, Italian, and Arab families. Interestingly, the C52X mutation was found to be associated with a c.248G-->A (G83E) variation, suggesting the existence of a founder effect. By contrast, the presence of the same aberration in three different ethnic groups could imply that this particular site is prone to mutation. Basal fasting concentrations of growth hormone, insulin-like growth factor-1, and insulin-like growth factor binding protein-3, as well as glucose and insulin levels revealed no aberrations. In conclusion, consideration of this rare disease that causes significant morbidity with short stature, osteopenia and arthritic complaints would prevent unnecessary examinations and treatment attempts. Testing for this specific mutation in suspected cases could provide a rapid and definitive diagnosis.
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Proteínas de Unión a Factor de Crecimiento Similar a la Insulina/genética , Adolescente , Artropatía Neurógena/genética , Secuencia de Bases , Proteínas CCN de Señalización Intercelular , Preescolar , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Homocigoto , Humanos , Artropatías/congénito , Masculino , Datos de Secuencia Molecular , Mutación , LinajeRESUMEN
INTRODUCTION: Henoch-Schönlein Purpura (HSP) is a systemic vasculitic syndrome characterized by non-thrombocytopenic purpura, arthritis/arthralgia, abdominal pain, and glomerulonephritis. The pathogenesis of HSP has not been clearly identified. Oxidative damage has a role in the pathogenesis of most cases. AIM: This study aimed to evaluate changes of oxidative stress by studying parameters like superoxide dismutase (SOD), catalase (CAT), and malondialdehyde (MDA) in an attempt to identify the role of oxidative stress in HSP from another perspective. MATERIALS AND METHODS: This study enrolled 23 pediatric patients (ten girls and thirteen boys) diagnosed with HSP who were under follow-up at Sutcu Imam University School of Medicine Department of Pediatrics between 2014 and 2016 and twenty healthy children as the control group. The parents of all subjects gave informed consent to participate in the study. In the HSP group, the beginning season of the illness and the systemic involvement during follow-up were determined. Blood specimens were obtained at presentation before any treatment was started. SOD, CAT activities, and MDA values in erythrocyte and plasma samples were compared between the patient group and the healthy children. RESULTS: Twenty-three patients with HSP (13 males, 10 females) and 20 healthy children participated in this study. The mean age of the HSP cases was 8.21±3.78 years (range 2-16 years) and of the controls was 8.6±4.2 (range 3-14 years). The mean MDA value was 2.95±0.71 nmol/ml in the patient group and 2.67±0.66 nmol/ml in the control group (p=0.787). The mean level of the CAT enzyme was 1.32±0.35 U/g Hb in the patient group and 7.8±1.74 U/g Hb in the control group (p=0.001). The mean levels of the SOD enzyme were 3.06±0.85 U/g Hb in the patient group and 0.97±0.36 U/g Hb in the control group (p=0.001). CONCLUSIONS: Although high MDA levels support the role of lipid peroxidation in the pathogenesis of HSP, statistical significance was not reached owing to a limited number of our patients. The reduced CAT enzyme activity is consistent with the findings of previous reports. This finding supports the notion that oxidative stress can play a role in the pathogenesis of HSP. KEYPOINTS: Our findings support the notion that oxidative stress can play a role in the pathogenesis of HSP.
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Vasculitis por IgA , Antioxidantes , Biomarcadores , Cloranfenicol O-Acetiltransferasa , Femenino , Humanos , Masculino , Estrés Oxidativo , Superóxido DismutasaRESUMEN
Growth Hormone (GH) is a 22 kDa protein that has effects on growth and glucose and fat metabolisms. These effects are initiated by binding of growth hormone (GH) to growth hormone receptors (GHR) expressed in target cells. Mutations or deletions in the growth hormone receptor cause an autosomal disorder called Laron-type dwarfism (LS) characterized by high circulating levels of serum GH and low levels of insulin like growth factor-1 (IGF-1). We analyzed the GHR gene for genetic defect in seven patients identified as Laron type dwarfism. We identified two missense mutations (S40L and W104R), and four polymorphisms (S473S, L526I, G168G and exon 3 deletion). We are reporting a mutation (W104R) at exon 5 of GHR gene that is not previously reported, and it is a novel mutation.
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Síndrome de Laron/genética , Receptores de Somatotropina/genética , Niño , Preescolar , Femenino , Hormona de Crecimiento Humana/sangre , Humanos , Proteína 3 de Unión a Factor de Crecimiento Similar a la Insulina/sangre , Factor I del Crecimiento Similar a la Insulina/metabolismo , Síndrome de Laron/sangre , Masculino , Mutación/genética , Reacción en Cadena de la Polimerasa , Polimorfismo Genético/genéticaRESUMEN
The aim of this study was to evaluate the thyroid function alterations in a group of epileptic children taking antiepileptic drugs. The study included a total of 183 pediatric epilepsy patients, aged 15 months-16 years, comprising 114 patients treated with valproic acid, 69 patients treated with phenobarbital, and 151 age-matched healthy volunteers as the control group. Serum levels of thyroid hormones were measured before the beginning of the antiepileptic therapy and after 12 months of treatment. Thyroid-stimulating hormone levels were significantly higher in the 12th month of phenobarbital and valproic acid treatment. The level of free triiodothyronine before treatment was higher in epileptic patients than in the control group. Subclinical hypothyroidism at month 12 was determined in 15.2% of the valproic acid group and in 2.9% of the phenobarbital group. When compared with the pre-treatment values, there was a statistically significant difference in the incidence of subclinical hypothyroid in the valproic acid group and no significant difference in the phenobarbital group. Symptomatic hypothyroidism was not detected. It was concluded that the thyroid functions of patients using valproic acid and phenobarbital for a long time should be regularly monitored.
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Anticonvulsivantes/efectos adversos , Epilepsia/tratamiento farmacológico , Hipotiroidismo/inducido químicamente , Hipotiroidismo/epidemiología , Glándula Tiroides/efectos de los fármacos , Adolescente , Niño , Preescolar , Femenino , Humanos , Incidencia , Lactante , Masculino , Fenobarbital/efectos adversos , Hormonas Tiroideas/sangre , Ácido Valproico/efectos adversosRESUMEN
Background Insulin resistance (IR) is an important disorder in obese children because it is closely related to cardiovascular diseases. Epicardial adipose tissue (EAT) plays a role in the development of IR due to secreted bioactive molecules, and the inflammatory process of these molecules may cause atrial electromechanical delay (EMD). Objective The objective of our study was to determine the relationship between EAT and EMD with IR in obese children. Methods Ninety-four obese patients were included in the study. IR was calculated using the Homeostatic Model Assessment for Insulin Resistance (HOMA-IR) and defined as HOMA-IR greater than the 90thpercentile in an age- and sex-specific percentile curve. Patients were divided into two groups according to their IR. All patients underwent echocardiographic examinations. Statistical significance was set to a two-sided p-value < 0.05. Results EAT was significantly higher in the IR group (p < 0.001). The optimal cut-off value for EAT to predict IR was found to be > 3.85 mm, with 92.5% specificity and 68.5% sensitivity (p = 0.002). In the multivariate logistic regression model, EAT (OR = 1.256, 95% CI: 1.016-1.53, p = 0.035) was also associated with IR after adjustment for variables found to be statistically significant in univariate analysis. Inter- and intra-atrial EMD was significantly prolonged in the IR group compared to the group without IR (p < 0.010; p = 0.032 respectively). Conclusion: In our study, we revealed that EAT was positively correlated with IR and was an independent predictor of IR. (Arq Bras Cardiol. 2020; [online].ahead print, PP.0-0).
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Resistencia a la Insulina , Obesidad , Tejido Adiposo , Niño , Ecocardiografía , Femenino , Humanos , Insulina , Masculino , PericardioRESUMEN
Objective: The prevalence of childhood obesity is increasing and leads to co-morbidities such as hypertension. However, it is still not clear why some obese individuals are hypertensive and others not. Nesfatin-1 is a recently discovered anorexigenic peptide which also has effects on blood pressure (BP). Our aim was to evaluate the relationship between obesity-related hypertension and Nesfatin-1. Methods: This cross-sectional study comprised 87 obese children. The patients were divided into two groups; hypertensive (n=30) and normotensive (n=57) obese. The American Academy of Pediatrics guidelines were used to diagnose hypertension. Blood samples were collected after 12 hours of fasting to investigate Nesfatin-1 concentrations. We also evaluated serum trace elements in addition to the routine blood tests. Results: Body mass index (BMI), weight and serum Nesfatin-1 concentrations were higher in the hypertensive group (p=0.002, p=0.001, and p=0.007, respectively). There was no difference between serum zinc levels, but Copper (Cu) levels were significantly lower in the hypertensive group (p=0.248, p=0.007, respectively). There were positive correlations between BP and BMI and weight Z-scores and a negative correlation with Cu. The optimal cut-off value of Nesfatin-1 to predict hypertension was found to be >1.8 ng/mL, with a specificity of 71.9% and a sensitivity of 96.7% [area under the curve=0.703, 95% confidence interval (CI): 0.577-0.809; p=0.002]. In multiple logistic regression analysis Nesfatin-1 [Odds ratio (OR)=1.103, 95% CI: 1.039-1.171; p=0.001], Cu (OR=0.947, 95% CI: 0.915-0.979; p=0.001) and BMI for age Z-score (OR=56.277, 95% CI: 5.791-546.907; p=0.001) still remained significant predictors of hypertension. Conclusion: Nesfatin-1 levels are higher and are an independent predictor of hypertension in obese subjects.
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Cobre/sangre , Hipertensión/sangre , Nucleobindinas/sangre , Obesidad Infantil/sangre , Zinc/sangre , Adolescente , Biomarcadores/sangre , Niño , Estudios Transversales , Femenino , Humanos , Hipertensión/diagnóstico , Hipertensión/etiología , Masculino , Obesidad Infantil/complicaciones , Sensibilidad y EspecificidadRESUMEN
Aim: This study was planned to evaluate bone health in patients with hereditary spherocytosis.Materials and methods: In this prospective study, a total of 30 hereditary spherocytosis patients which followed in the Pediatric Hematology and Oncology Department of KSU Medical Faculty and 30 patients for control group were included. Patient and control group were chosen equal in age and sex. Hemogram and biochemical tests (serum calcium, phosphorus, alkaline phosphatase, parathormone, vitamin D) and osteocalcin were studied from the patient and control groups. Also DXA examination was performed in the patient group.Results: There was a significant difference in hemogram parameters between the two groups due to hemolytic anemia in hereditary spherocytosis patients. In the patient group, osteocalcin was 6.88 ± 4.35â ng/ml, vitamin D was 17.74 ± 7.76â ng/ml and in the control group osteocalcin was 11.93 ± 8.92â ng/ml, vitamin D was 24.04 ± 11.70â ng/ml. There was a statistically significant difference between the vitamin D and osteocalcin levels of the two groups (p = 0.017 and 0.008, respectively). Bone density was assessed in the patient group. In patients DXA results showed lower Z-scores then the normal population according to age and sex.Conclusion: Hereditary spherocytosis patients should be followed closely in terms of development, puberty, bone health as they are in other hemolytic anemias. Nutritional recommendations, vitamin D supplementation, physical activity should be advised to protect bone health.
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Enfermedades Óseas/etiología , Huesos/metabolismo , Esferocitosis Hereditaria/complicaciones , Vitamina D/metabolismo , Adolescente , Enfermedades Óseas/patología , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Estudios ProspectivosRESUMEN
Resumo Fundamentos A resistência à insulina (RI) é um distúrbio importante em crianças obesas, pois está intimamente relacionado a doenças cardiovasculares. O tecido adiposo epicárdico (TAE) desempenha um papel no desenvolvimento da RI devido a moléculas bioativas secretadas, sendo que o processo inflamatório dessas moléculas pode causar atraso eletromecânico atrial (AEA). Objetivo O objetivo do nosso estudo foi determinar a relação entre o TAE e o AEA com a RI em crianças obesas. Métodos O estudo incluiu 94 pacientes obesos. A IR foi calculada usando o Modelo de Avaliação da Homeostase da Resistência à Insulina (HOMA-IR) e definida como HOMA-IR maior que o percentil 90 em uma curva de percentil específica para idade e sexo. Os pacientes foram divididos em dois grupos de acordo com sua RI. Todos os pacientes foram submetidos a exames ecocardiográficos. A significância estatística foi estabelecida como valor de < 0,05 bicaudal. Resultados A TAE encontrava-se significativamente maior no grupo RI (p < 0,001). O valor de corte ideal para que o TAE previsse a RI foi > 3,85 mm, com especificidade de 92,5% e sensibilidade de 68,5% (p = 0,002). No modelo de regressão logística multivariada, o TAE (OR = 1.256, IC de 95%: 1.016-1.53, p = 0.035) esteve associado à RI após o ajuste para as variáveis estatisticamente significativas na análise univariada. O AEA inter e intra-atrial mostrou-se significativamente prolongado no grupo RI em comparação com o grupo sem RI (p < 0,010; p = 0,032, respectivamente). Conclusão No nosso estudo, revelamos que o TAE esteve positivamente correlacionada com a RI e foi preditor independente de RI. (Arq Bras Cardiol. 2020; [online].ahead print, PP.0-0)
Abstract Background Insulin resistance (IR) is an important disorder in obese children because it is closely related to cardiovascular diseases. Epicardial adipose tissue (EAT) plays a role in the development of IR due to secreted bioactive molecules, and the inflammatory process of these molecules may cause atrial electromechanical delay (EMD). Objective The objective of our study was to determine the relationship between EAT and EMD with IR in obese children. Methods Ninety-four obese patients were included in the study. IR was calculated using the Homeostatic Model Assessment for Insulin Resistance (HOMA-IR) and defined as HOMA-IR greater than the 90thpercentile in an age- and sex-specific percentile curve. Patients were divided into two groups according to their IR. All patients underwent echocardiographic examinations. Statistical significance was set to a two-sided p-value < 0.05. Results EAT was significantly higher in the IR group (p < 0.001). The optimal cut-off value for EAT to predict IR was found to be > 3.85 mm, with 92.5% specificity and 68.5% sensitivity (p = 0.002). In the multivariate logistic regression model, EAT (OR = 1.256, 95% CI: 1.016-1.53, p = 0.035) was also associated with IR after adjustment for variables found to be statistically significant in univariate analysis. Inter- and intra-atrial EMD was significantly prolonged in the IR group compared to the group without IR (p < 0.010; p = 0.032 respectively). Conclusion: In our study, we revealed that EAT was positively correlated with IR and was an independent predictor of IR. (Arq Bras Cardiol. 2020; [online].ahead print, PP.0-0)
Asunto(s)
Resistencia a la Insulina , Obesidad , Pericardio , Ecocardiografía , Tejido Adiposo , InsulinaRESUMEN
Neonatal central diabetes insipidus (DI) is an extremely rare disorder that can cause severe morbidity and mortality. We have reported a very low birth weight infant with idiopathic central DI presenting in the first month of life who was successfully treated with sublingual desmopressin therapy. In this report, we emphasize that central DI should be kept in mind in an infant with unexplained hypernatremia and polyuria. Timely diagnosis and treatment with lyophilized desmopressin may prevent severe morbidity and mortality.
Asunto(s)
Desamino Arginina Vasopresina/administración & dosificación , Diabetes Insípida Neurogénica/tratamiento farmacológico , Administración Sublingual , Desamino Arginina Vasopresina/uso terapéutico , Femenino , Humanos , Recién Nacido , Recién Nacido de muy Bajo Peso , Imagen por Resonancia Magnética , Enfermedades RarasRESUMEN
Osteopetrosis is a clinical syndrome characterized by the failure of osteoclasts to resorb bone. Excessive bone density can interfere with vital tissues and structures, causing serious problems of the body. Hematopoietic insufficiency, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment may develop in a patient with osteopetrosis. Herein, we present an adolescent girl diagnosed with non-infantile type of osteopetrosis with rare complications of the disease like mandibular osteomyelitis and portal hypertension (PHT) without liver cirrhosis. To our knowledge, this is the first pediatric case with osteopetrosis related PHT.
RESUMEN
OBJECTIVE: To evaluate etiology of the patients with micropenis presenting to a tertiary health care center. METHODS: In this prospective study all patients who were referred with a diagnosis of micropenis from October 2009 through October 2010, underwent a complete evaluation including measurement of stretched penile length. RESULTS: In 20 (31 %) among a total of 65 patients, measured stretched penile length was not consistent with the description of micropenis. True presence of micropenis was confirmed in the remaining 45 of total 65 cases (69 %). Etiological cause was determined in 29 patients (44 %) with the most common cause being hypogonadotropic hypogonadism. No etiological cause could be found in 16 patients (25 %). CONCLUSIONS: In approximately one third of patients the presence of micropenis was not confirmed. The most common causes of misdiagnosis were buried penis due to obesity, erroneous measurement of stretched penile length, and/or lack of knowledge on population standards for penile length. Etiological basis of micropenis is rather heterogeneous. Despite extensive investigations, no causal link was found in around one fourth of cases. Accurate measurement and utilization of internationally accepted standards is utmost important for diagnosis and management of micropenis.