Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 18 de 18
Filtrar
1.
Int J Clin Pract ; 75(7): e14199, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33794044

RESUMO

AIM: This study aimed to investigate the association between carotid intima-media changes that play a part in the atherosclerotic process in childhood obesity and fibrin monomers as an important indicator of fibrin plaque. METHODS: This is a cross-sectional study of obese children and non-obese healthy control subjects. Height, weight, body mass index, waist/hip ratio, systolic/diastolic blood pressures were recorded, in addition, biochemistry, haemogram, fibrin monomers and d-dimer were measured in both groups. Right and left common carotid intima-media thicknesses were measured by ultrasonography and mean carotid intima-media thickness was calculated. RESULTS: Obese children (n = 89, 46.1% girls, median age: 12.6 ± 2.3 years) and healthy control group (n = 40, 52.5% girls, median age: 13.2 ± 2.2 years) were comparable in terms of gender, age and puberty stage. Mean carotid intima-media thickness was higher in obese children than the healthy control group (P = .002). There was no difference between the two groups in terms of fibrin monomers and d-dimer levels. In obese children, there was a weak negative correlation between mean carotid intima-media thickness and fibrin monomers (P = .030, r = -0.233). CONCLUSION: In obese children, mean carotid intima-media thickness was determined higher, as an early indicator of atherosclerosis. We want to emphasise that obese children are at risk for cardiovascular disease and should be evaluated in terms of atherosclerosis. This study investigates the relation between increased carotid intima-media thickness and fibrin monomers, in children, the first time in Literature.


Assuntos
Espessura Intima-Media Carotídea , Obesidade , Adolescente , Artérias Carótidas/diagnóstico por imagem , Criança , Estudos Transversais , Feminino , Produtos de Degradação da Fibrina e do Fibrinogênio , Humanos , Masculino , Obesidade/complicações , Fatores de Risco
2.
J Clin Res Pediatr Endocrinol ; 4(4): 204-7, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23149433

RESUMO

OBJECTIVE: The purpose of this study was to investigate the prevalence of and the risk factors associated with obesity among adolescents in Ankara, Turkey. METHODS: The study was conducted in 26 schools in Ankara during the time period from September 2010 to March 2011. A total of 8848 adolescents aged 11-18 years were chosen using a population-based stratified cluster sampling method. Body mass index (BMI) of the participants was compared with the BMI references for Turkish children and adolescents to estimate the prevalence of overweight and obesity. A standardized questionnaire aiming to determine the sociodemographic characteristics, computer use, television (TV) watching, physical activity, and presence of obesity in the family was applied to the study group. RESULTS: The results showed that the overall prevalence of obesity among adolescents was 7.7% (8.4 % for females and 7.0% for males). It was observed that BMI increased as computer use increased. A greater proportion of the overweight and obese adolescents watched TV and use computer for more than 2 hours/day as compared to their normal-weight counterparts. The normal-weight subjects were found to show a higher participation in regular physical activity. Obesity prevalence among the families of obese adolescents was 56.5%. CONCLUSIONS: The prevalence of adolescent obesity in Ankara, Turkey is lower as compared to many European countries and to the United States. Computer use, watching TV, physical activity and family factors are important risk factors for obesity.


Assuntos
Obesidade/epidemiologia , Obesidade/fisiopatologia , Sobrepeso/epidemiologia , Sobrepeso/fisiopatologia , Saúde da População Urbana , Adolescente , Comportamento do Adolescente/etnologia , Índice de Massa Corporal , Criança , Análise por Conglomerados , Estudos Transversais , Saúde da Família/etnologia , Feminino , Inquéritos Epidemiológicos , Humanos , Masculino , Atividade Motora , Obesidade/etnologia , Obesidade/prevenção & controle , Sobrepeso/etnologia , Sobrepeso/prevenção & controle , Prevalência , Fatores de Risco , Instituições Acadêmicas , Fatores Sexuais , Turquia/epidemiologia , Saúde da População Urbana/etnologia
3.
J Pediatr Endocrinol Metab ; 25(11-12): 1205-7, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23329773

RESUMO

Infantile malignant osteopetrosis (IMO; OMIM 259700) is a rare inherited bone disease characterized by reduced or dysregulated activity of osteoclasts, resulting in generalized osteosclerosis. The disease usually presents within the first few months of life with anemia, hepatosplenomegaly, frontal bossing, nystagmus, blindness, deafness, and bone fractures. Children with IMO are at risk of developing hypocalcemia, with attendant tetanic seizures. We report the case of a baby boy who presented with neonatal hypocalcemia. Skeletal radiographs demonstrated sclerotic bones and a dense base of the skull with typical "space alien" face confirming the diagnosis of IMO. Pancytopenia developed at 2 months of age. Visual evoked potential showed severe bilateral optic nerve damage. Genetic mutation study revealed a new mutation in exon 13 of the TCIRG1 gene. Neonatal hypocalcemia can occur as result of IMO, which is easily missed out by clinicians. This causes delay in establishing the diagnosis and starting necessary treatment. Therefore, osteopetrosis should be kept in mind as a rare cause of neonatal hypocalcemia.


Assuntos
Hipocalcemia/diagnóstico , Osteopetrose/diagnóstico , Osso e Ossos/diagnóstico por imagem , Humanos , Hipocalcemia/congênito , Hipocalcemia/etiologia , Recém-Nascido , Masculino , Mutação de Sentido Incorreto , Nervo Óptico/anormalidades , Osteopetrose/complicações , Osteopetrose/congênito , Radiografia , ATPases Vacuolares Próton-Translocadoras/genética
4.
Turk J Pediatr ; 53(3): 274-80, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21980808

RESUMO

To determine the critical features for the diagnosis of nonclassical 21 hydroxylase deficiency (NC210HD) without performing adrenocorticotropic hormone (ACTH) test, we studied 186 cases with premature adrenarche. Clinical and laboratory features as well as basal 17-hydroxyprogesterone (17-OHP) were analyzed to determine factors important for differentiating NC21OHD. Overall, 6 patients (3.2%) had ACTH-stimulated 17-OHP > 10 ng/ml. A cutoff level of 2 ng/ml for basal 17-OHP was 66.7% sensitive and 78% specific for NC21OHD; however, a cutoff level of 1.55 ng/ml had higher sensitivity (83%) and specificity (70.6%). A cutoff of 1.55 ng/ml would lead to 31% of cases with premature adrenarche having to undergo ACTH test, and only one case would have been missed. That case had a bone age SDS > 2. Three cases out of five with a basal 17-OHP > 5 ng/ml had stimulated 17-OHP < 10 ng/ml. A cutoff of 1.55 ng/ml for basal 17-OHP together with bone SDS > 2 in those with lower basal levels as a guide for carrying out an ACTH test may yield better results in the diagnosis of NC21OHD in the premature adrenarche population. A cutoff of 5 ng/ml for basal 17-OHP should not be used for diagnosis of NC21OHD.


Assuntos
17-alfa-Hidroxiprogesterona/sangue , Hiperplasia Suprarrenal Congênita/diagnóstico , Adrenarca/sangue , Puberdade Precoce/diagnóstico , Biomarcadores/sangue , Criança , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Sensibilidade e Especificidade
5.
J Pediatr Endocrinol Metab ; 24(1-2): 109-12, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21528828

RESUMO

Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited tumor susceptibility disease characterized by the development of hemangioblastomas of the brain, spinal cord and retina; pheochromocytomas and renal cell carcinoma. The disease is caused by mutations in the VHL tumor suppressor gene located on chromosome 3p26-p25. In this paper, we present two patients with VHL disease type 2B confirmed by genetic analysis. Diagnosis in the first patient was based on demonstration of retinal hemangioblastoma in association with bilateral pheochromocytoma. Family screening revealed renal cell carcinoma in her father and uncle. The second patient was discovered during family screening of another index case in adult age. VHL disease should be clinically suspected in any individual with a pheochromocytoma especially when there is bilateral and/or multifocal disease or family history. Screening of patients and at-risk family members for VHL-associated tumors should be essential in management of VHL.


Assuntos
Testes Genéticos/estatística & dados numéricos , Doença de von Hippel-Lindau/diagnóstico , Adolescente , Neoplasias das Glândulas Suprarrenais/complicações , Neoplasias das Glândulas Suprarrenais/diagnóstico , Neoplasias das Glândulas Suprarrenais/genética , Adulto , Neoplasias Cerebelares/complicações , Neoplasias Cerebelares/diagnóstico , Criança , Análise Mutacional de DNA/métodos , Feminino , Testes Genéticos/métodos , Hemangioblastoma/complicações , Hemangioblastoma/diagnóstico , Humanos , Masculino , Linhagem , Feocromocitoma/complicações , Feocromocitoma/diagnóstico , Feocromocitoma/genética , Neoplasias da Retina/complicações , Neoplasias da Retina/diagnóstico , Proteína Supressora de Tumor Von Hippel-Lindau/genética , Adulto Jovem , Doença de von Hippel-Lindau/complicações , Doença de von Hippel-Lindau/genética
7.
Turk J Pediatr ; 52(3): 312-6, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20718192

RESUMO

X-linked adrenal hypoplasia congenita (AHC) is characterized by primary adrenal insufficiency and is frequently associated with hypogonadotropic hypogonadism (HH). The production of other pituitary hormones (adrenocorticotropic hormone [ACTH], growth hormone [GH], thyroid-stimulating hormone [TSH], and prolactin [PRL]) is usually normal. Mutations of the DAX-1 gene have been reported in patients with AHC and HH. We present a 13-year-old male patient with AHC caused by a nonsense mutation in the DAX-1 gene who developed GH deficiency following head trauma. He showed signs of adrenal insufficiency at the age of 23 months, and glucocorticoid and mineralocorticoid treatment was started. His parents reported head trauma due to a traffic accident at the age of 21 months. Adrenal computed tomography revealed hypoplasia of the left and agenesis of the right adrenal gland. Decreased growth rate was noted at the age of 12.5 years while receiving hydrocortisone 15 mg/m2/day. His height was 139.9 cm (-1.46 SD), body weight was 54.9 kg, pubic hair was Tanner stage 1, and testis size was 3 ml. His bone age was 7 years. His gonadotropin (follicle-stimulating hormone [FSH], luteinizing hormone [LH]) and testosterone levels were prepubertal. The evaluation of GH/insulin-like growth factor-1 (IGF-1) secretion at the age of 13 years revealed GH deficiency. Pituitary magnetic resonance imaging demonstrated a hypoplastic hypophysis (< 2.5 mm) and a normal infundibulum. GH treatment (0.73 IU/kg/week) was started. This paper reports a patient with genetically confirmed AHC demonstrating GH deficiency possibly due to a previous head trauma. Complete pituitary evaluation should be performed in any child who has survived severe traumatic brain injury.


Assuntos
Doenças das Glândulas Suprarrenais/epidemiologia , Glândulas Suprarrenais/patologia , Lesões Encefálicas/complicações , Lesões Encefálicas/epidemiologia , Doenças Genéticas Ligadas ao Cromossomo X/complicações , Hormônio do Crescimento Humano/deficiência , Adolescente , Doenças das Glândulas Suprarrenais/genética , Insuficiência Adrenal/congênito , Insuficiência Adrenal/epidemiologia , Comorbidade , Humanos , Masculino
9.
Indian J Pediatr ; 76(9): 950-1, 2009 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-19904510

RESUMO

Functional follicular ovarian cysts are frequently reported in girls with peripheral precocious puberty (PP). These cysts are usually self-limiting and resolve spontaneously. Several drugs like antiestrogens (tamoxifen) and new aromatase inhibitors are seldom used for treatment. Here we report a girl with peripheral PP who presented with unilateral enlargement of the ovary and a recurrent autonomous ovarian cyst. No skin pigmentation or bone anomaly was noted. The patient was successfully treated with anastrozole, a highly selective aromatase inhibitor. No adverse reaction was noted. Anastrozole is a safe and tolerable drug especially used to suppress estrogen action.


Assuntos
Inibidores da Aromatase/uso terapêutico , Nitrilas/uso terapêutico , Cistos Ovarianos/tratamento farmacológico , Triazóis/uso terapêutico , Anastrozol , Criança , Feminino , Humanos , Puberdade Precoce/tratamento farmacológico , Recidiva
10.
Artigo em Inglês | MEDLINE | ID: mdl-19716498

RESUMO

The ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome is characterized by ectrodactyly, ectodermal dysplasia, and clefting. The development of a malignancy with EEC syndrome is very rare. Here we present follow-up on a Turkish boy with EEC syndrome type 3 who developed malignant lymphoma with high expression of p63. He had chronic renal failure due to recurrent urinary infections caused by ureterovesical reflux. Cervical, diffuse, large, B-cell non-Hodgkin lymphoma with high expression of p63 was diagnosed, and the patient died at 19 years of age. The transcription factor p63 is a key regulator of ectodermal, orofacial, and limb development. Mutations in the p63 gene can cause syndromes of ectodermal dysplasia, ectrodactyly, and orofacial clefting. Malignant lymphoma is a very rare complication of EEC syndrome. We suggest that p63 gene mutation analysis should be performed in every EEC syndrome patient with the possibility of developing malignant tumors.


Assuntos
Fenda Labial/patologia , Fissura Palatina/patologia , Displasia Ectodérmica/patologia , Deformidades Congênitas do Pé/patologia , Deformidades Congênitas da Mão/patologia , Linfoma Difuso de Grandes Células B/patologia , Fenda Labial/genética , Fissura Palatina/genética , Displasia Ectodérmica/genética , Evolução Fatal , Seguimentos , Deformidades Congênitas do Pé/genética , Deformidades Congênitas da Mão/genética , Humanos , Hidronefrose/patologia , Lactente , Linfoma Difuso de Grandes Células B/genética , Masculino , Síndrome , Anormalidades Dentárias/patologia , Transativadores/genética , Fatores de Transcrição , Proteínas Supressoras de Tumor/genética , Doenças Ureterais/patologia
13.
Pediatr Hematol Oncol ; 25(7): 630-7, 2008 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-18850475

RESUMO

Diabetes is an important problem encountered in thalassemic patients. The severity and type of glucose disturbances vary greatly in different studies. Also the pathogenesis seems to be complex; either insulin deficiency or insulin resistance may mediate the glucose disturbances. In a group of thalassemic patients glucose homeostasis was evaluated. Diabetes prevalence was 1.8%. Forty patients were investigated both with an oral glucose tolerance test and first-phase insulin response. Three patients had impaired fasting glucose, 1 patient had impaired glucose tolerance, and 2 patients had hyperinsulinism. Nineteen of 40 patients who were tested had low first-phase insulin response (47.5%) with below 10th centile. Age, BMI, height SDS, age at diagnosis, age at first blood transfusion, number of blood transfusions in a year, percentage of elevated liver enzyme, and hemoglobin and ferritin levels were not different between patients with low first-phase insulin response to patients with normal first-phase insulin response. Four patients are HCV infected, and only 1 of them had low first-phase insulin response. The study group showed a high rate of impairement in insulin secretion by first-phase insulin response to glucose overload, despite the low rate of insulin resistance. Defect of insulin secretion in thalassemic patients may develop earlier than insulin resistance, and then be accompanied by insulin resistance. Increasing insulin resistance with age and the occurrence of additional factors could lead to detoriation of glucose metabolism.


Assuntos
Glicemia/metabolismo , Diabetes Mellitus/etiologia , Resistência à Insulina , Insulina/metabolismo , Talassemia/metabolismo , Adolescente , Adulto , Transfusão de Sangue , Criança , Pré-Escolar , Diabetes Mellitus/epidemiologia , Feminino , Teste de Tolerância a Glucose , Homeostase , Humanos , Insulina/administração & dosagem , Insulina/sangue , Secreção de Insulina , Masculino , Talassemia/complicações , Talassemia/terapia , Adulto Jovem
14.
Indian J Pediatr ; 75(6): 638-40, 2008 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-18759096

RESUMO

Recently many reports have been published on the use of intracytoplasmic sperm injection (ICSI) and the increased risk of congenital major malformations or syndromes. We present three cases with Goldenhar syndrome (one of them a twin pair) and one case with Rubinstein-Taybi syndrome (RTS), also a twin pair. All four female cases are derived from ICSI. Goldenhar syndrome with ICSI pregnancy has been reported previously but as far as we know, RTS has not been described in association with assisted reproductive technology (ART). The four new cases reported herein will contribute to a better understanding whether ICSI pregnancy increases congenital malformations.


Assuntos
Síndrome de Goldenhar/etiologia , Síndrome de Rubinstein-Taybi/etiologia , Injeções de Esperma Intracitoplásmicas/efeitos adversos , Gêmeos , Adulto , Feminino , Síndrome de Goldenhar/genética , Humanos , Gravidez , Resultado da Gravidez , Síndrome de Rubinstein-Taybi/genética
15.
Turk J Pediatr ; 50(2): 200-3, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18664091

RESUMO

Proteus syndrome is a rare overgrowth syndrome characterized by hemihypertrophy, lower limb asymmetry, hyperpigmentations, lipomas, and vascular malformation. In this paper, we present a new adolescent Proteus syndrome patient with bilateral megafoot. He was very successful in playing football and was very popular among his friends. We present this case for the psychological and surgical aspects of this very interesting entity. We also review the recent literature related with Proteus syndrome.


Assuntos
Deformidades Congênitas do Pé , Síndrome de Proteu , Adolescente , Humanos , Lactente , Masculino
16.
J Clin Res Pediatr Endocrinol ; 1(1): 38-42, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-21318063

RESUMO

A 14 year-old patient was admitted because of a history of polyuria and polydipsia. A diagnosis of central diabetes insipidus (CDI) accompanied by growth hormone (GH) and gonadotropin deficiency was made. Hypophyseal magnetic resonance imaging (MRI) of the patient demonstrated isolated pituitary stalk enlargement. Although GH deficiency and gonadotropin deficiency were transient, CDI was persistent despite the regression of the pituitary stalk enlargement over the 4 years of follow-up.


Assuntos
Diabetes Insípido Neurogênico/patologia , Hipófise/patologia , Adolescente , Diabetes Insípido Neurogênico/fisiopatologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Hipófise/fisiopatologia
17.
Dev Med Child Neurol ; 49(3): 219-24, 2007 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-17355480

RESUMO

Periventricular nodular heterotopia (PNH) is a rare neuronal migration disorder in which immature neurons fail to undergo a directed migration from the ventricular and subventricular zones to the cerebral cortex. Classic PNH occurs predominantly in females and is associated with periods of epilepsy and near-normal intelligence. One gene associated with PNH was mapped to chromosome Xq28. PNH with learning disability is reported in 15 male patients with several syndromes and various congenital abnormalities such as craniosynostosis, frontonasal malformation, and agenesis of the corpus callosum. We present a 26-year-old male patient who was followed up with the diagnosis of epilepsy from the age of 1 year. Additionally the patient had severe learning disability, obesity, and hypogonadism. Imaging of his brain demonstrated PNH. Klinefelter syndrome was clinically suspected, and analysis of his chromosomes revealed a karyotype 46,XY,der(19)t(X;19) (q11.1-11.2;p13.3). Molecular techniques, such as subtelomere-specific fluorescent in-situ hybridization and multicolour banding, were also used. The same translocation was demonstrated in his mother and his maternal grandmother. This family might help to explain the gene localization of X-linked recessive PNH. In our patient, PNH is associated with familial (X;19) translocation. To our knowledge, this unique combination has not been reported in the medical literature.


Assuntos
Encéfalo/anormalidades , Aberrações Cromossômicas , Epilepsia/genética , Doenças Genéticas Ligadas ao Cromossomo X/genética , Deficiências da Aprendizagem/genética , Malformações do Sistema Nervoso/genética , Adulto , Encéfalo/patologia , Movimento Celular , Epilepsia/complicações , Doenças Genéticas Ligadas ao Cromossomo X/patologia , Doenças Genéticas Ligadas ao Cromossomo X/fisiopatologia , Humanos , Deficiências da Aprendizagem/complicações , Masculino , Malformações do Sistema Nervoso/complicações , Neurônios/patologia , Linhagem , Síndrome
18.
Am J Med Genet A ; 140(6): 628-32, 2006 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-16470698

RESUMO

We report on a 16-month-old male patient with ring chromosome 4 and deletion of Wolf-Hirschhorn syndrome (WHS) region with multiple congenital anomalies including unilateral cleft lip and palate, iris coloboma, microcephaly, midgut malrotation, hypospadias, and double urethral orifices. Peripheral chromosome analysis of the patient showed 46,XY,r(4)(p16.3q35) de novo. Multicolor fluorescence in situ hybridization (FISH) study was also performed and according to multicolor banding (MCB) a r(4)(::p16.3 --> q34.3 approximately 35.1::) was found in all metaphases. Subtelomeric 4p region, subtelomeric 4q region, as well as, Wolf-Hirschhorn critical region were deleted in ring chromosome 4. Genomic microarray analysis was also performed to delineate the size of deletion. Cranial magnetic resonance imaging (MRI) showed hypoplastic corpus callosum, delayed myelinization, and frontal and occipital lobe atrophies. Both maternal and paternal chromosomal analyses were normal. We compare the phenotypic appearance of our patient with the previously reported 16 cases of ring chromosome 4 in the medical literature.


Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos Par 4/genética , Anormalidades Craniofaciais , Deficiência Intelectual/patologia , Cromossomos em Anel , Anormalidades Múltiplas/patologia , Bandeamento Cromossômico , Fenda Labial/patologia , Fissura Palatina/patologia , Coloboma/patologia , Transtornos do Crescimento/patologia , Humanos , Hibridização in Situ Fluorescente , Lactente , Cariotipagem , Masculino , Microcefalia/patologia , Síndrome
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA