RESUMEN
AIM: Besides of genetic and autoimmun factors, role of viral infections have been investigated in pathogenesis of type 1 diabetes mellitus (T1DM). The aim of this study was to determine enterovirus (EV) infections, glutamic acid decarboxylase (GAD) antibody positivity and HLA genotype distribution in T1DM patients with respect to corresponding healthy subjects. This is the first study in Turkey designed to investigate enteroviral infections and autoimmune and genetic factors together in this group of patients. METHODS: EV RNA, coxsackie virus B type 4 (CV-B4) antibodies, GAD antibodies and HLA genotypes were investigated in 86 patients with T1DM and in 100 control subjects. RESULTS: EV RNA was not detected in either the patient or control group. CV-B4 type antibodies and GAD antibodies were identified in 66.3% and 47.6% patients and 55.0% and 19% control subjects, respectively (for GAD antibodies P=0.001). High-risk HLA-DQ and high-risk HLA-DR genotypes for T1DM were identified in 67.3% and 86.0% of patients, respectively, and the difference was significantly higher compared with controls (34% and 40%, respectively, P=0.001). CONCLUSION: There was no significant relation between CV-B4 neutralizing antibody, GAD antibody positivity and high-risk HLA genotypes in patients. In conclusion, no correlation was found in this study between T1DM and EV infections. In addition, there was no relation between EV infections and T1DM in patients with high-risk genotypes or in patients with autoimmunity.
Asunto(s)
Autoanticuerpos/sangre , Enfermedades Autoinmunes/etiología , Diabetes Mellitus Tipo 1/etiología , Infecciones por Enterovirus/complicaciones , Glutamato Descarboxilasa/inmunología , Antígenos HLA/genética , Adolescente , Anticuerpos Antivirales/inmunología , Autoanticuerpos/inmunología , Enfermedades Autoinmunes/epidemiología , Enfermedades Autoinmunes/inmunología , Estudios de Casos y Controles , Niño , Infecciones por Coxsackievirus/complicaciones , Infecciones por Coxsackievirus/epidemiología , Infecciones por Coxsackievirus/inmunología , Infecciones por Coxsackievirus/virología , Diabetes Mellitus Tipo 1/epidemiología , Diabetes Mellitus Tipo 1/inmunología , Susceptibilidad a Enfermedades , Enterovirus Humano B/aislamiento & purificación , Infecciones por Enterovirus/epidemiología , Infecciones por Enterovirus/inmunología , Infecciones por Enterovirus/virología , Femenino , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Masculino , Imitación Molecular , ARN Viral/sangre , Turquía/epidemiología , Proteínas no Estructurales Virales/inmunologíaRESUMEN
BACKGROUND: Vitamin D receptor (VDR) gene is regarded as one of the candidate genes for type 1 diabetes mellitus (T1D) susceptibility and of some genetic factors involved in the development of osteoporosis in this group. STUDY DESIGN: We characterized the VDR gene polymorphism (BsmI, ApaI, TaqI, FokI and Cdx-2 binding site) in a group of Turkish patients with T1D (n=90) and correlated respective VDR genotypes with the bone mass and some parameters of bone turnover. RESULTS: There were no differences in the genotype frequencies of the BsmI, ApaI, TaqI and Cdx-2 polymorphisms in patients and control subjects. We found a significantly higher prevalence of the F allele/the FF genotype in the patients compared to controls (p=0,0031, odds 1.96 (1,27-3,01)). We observed no difference in markers of bone turnover (Serum levels of osteocalcin, PINP and alkaline phosphatase, urinary levels of calcium/ creatinine and N-telopeptid) among different VDR genotypes. No correlation was found between VDR polymorphisms and DEXA measurements of these patients. CONCLUSIONS: Although the FF genotype was found to be a risk factor in a Turkish population, elucidation of this result is necessary in other larger study groups drawn from the same ethnic population.
Asunto(s)
Densidad Ósea , Diabetes Mellitus Tipo 1/genética , Predisposición Genética a la Enfermedad , Polimorfismo Genético , Receptores de Calcitriol/genética , Factor de Transcripción CDX2 , Niño , Preescolar , Femenino , Genotipo , Proteínas de Homeodominio/fisiología , Humanos , Masculino , Transactivadores/fisiología , TurquíaRESUMEN
Remittent isolated palsy of peripheral or of upper cranial nerves in diabetic patients is well documented, but paralysis of a lower cranial nerve or an isolated branch of any cranial nerve has rarely been reported. In the case described, besides temporary hypoglossal and facial nerve palsies previously, unilateral temporary vocal cord palsy caused by right inferior laryngeal nerve (recurrent) paralysis associated with type 1 diabetes mellitus is presented. Hoarseness and vocal cord palsy of the patient, as in the case of her first admission with other complaints due to other cranial nerve palsies, totally remitted, presumably both owing to improved metabolic control.
Asunto(s)
Enfermedades de los Nervios Craneales/complicaciones , Diabetes Mellitus Tipo 1/complicaciones , Niño , Enfermedades de los Nervios Craneales/diagnóstico , Neuropatías Diabéticas/diagnóstico , Femenino , Humanos , Pliegues Vocales/inervaciónRESUMEN
Hyperinsulinism, although rare, is the most common cause of persistent hyperinsulinaemic hypoglycaemia in infancy. Because of persistent hypoglycaemia, serious difficulties are encountered in the long term management of this condition. A male neonate, after an uncomplicated full-term pregnancy, had been admitted to another hospital with convulsions on the third post-natal day. Meningitis had been suspected at that time and treated with phenobarbital and he had been discharged from the hospital. At three-months old he was referred to our department for persistent convulsions and lethargy. His parents were of 1st degree consanguinity. His blood glucose level was found to be 24 mg/dl (1.33 mmol/L). Because of the dangerously high insulin level during hypoglycaemia (insulin/glucose > 0.3), the absence of ketonuria, and the need for a high dose of glucose infusion (> 15 mg/kg/min) to achieve normoglycaemia and a glycaemic response to glucagon despite the hypoglycaemia, a diagnosis of persistent hyperinsulinaemic hypoglycaemia of infancy was made. Since maximal doses of prednisone, glucagon, diazoxide, octreotide and high infusion of glucose were ineffective in achieving normoglycaemia, a subtotal (80%) pancreatectomy was done. Postoperatively intermittent hypoglycaemic episodes continued. These were controlled with low doses of octreotide. Histology revealed diffuse adenomatous hyperplasia (nesidoblastosis). The boy is now in the sixth post-operative month and developing normally.
Asunto(s)
Hiperinsulinismo/complicaciones , Hiperinsulinismo/terapia , Hipoglucemia/etiología , Antiinflamatorios/uso terapéutico , Glucemia/análisis , Consanguinidad , Diazóxido/uso terapéutico , Epilepsia/etiología , Glucagón/uso terapéutico , Humanos , Hiperinsulinismo/diagnóstico , Hiperinsulinismo/metabolismo , Recién Nacido , Insulina/sangre , Masculino , Octreótido/uso terapéutico , Pancreatectomía/métodos , Prednisona/uso terapéutico , Resultado del TratamientoRESUMEN
The thyroid hormone profile was investigated in goitrous schoolchildren aged 6-11 years living in Antalya, an area with mild/ moderate iodine deficiency. With few exceptions, the serum levels of T4 and TSH were in the normal range in children with different grades of goiter. Compensatory elevated T3 levels were detected in 24% of the subjects. Thyroid hormones did not differ significantly with respect to the urinary iodine (UI) level. No correlations were found between thyroid volume, UI excretion level and thyroid hormones. It was concluded that thyroid hormones, except compensatory T3 elevation in some subjects, were not affected significantly in a mild/moderate iodine deficient area.
Asunto(s)
Enfermedades Endémicas , Bocio/sangre , Bocio/epidemiología , Hormonas Tiroideas/sangre , Niño , Femenino , Bocio/diagnóstico por imagen , Bocio/orina , Humanos , Yodo/orina , Masculino , Valores de Referencia , Glándula Tiroides/diagnóstico por imagen , Tirotropina/sangre , Tiroxina/sangre , Triyodotironina/sangre , Turquía , UltrasonografíaRESUMEN
Goiter prevalence and urinary iodine excretion levels were assessed in 605 schoolchildren (301 males and 304 females), aged 6-11 years, living in the Antalya region, a well known endemic goiter area in Turkey. Goiter prevalence was evaluated by clinical examination and ultrasound of the thyroid gland. Urinary iodine levels were expressed as microg/g creatinine. Goiter by inspection and palpation was found in 35% (n = 212) of all subjects, in 37.5% (n = 114) of girls and 32.5% (n = 98) of boys. Iodine deficiency of moderate degree was detected from the point of goiter prevalence. With regard to the upper limits of reference thyroid volumes reported by WHO and ICCIDD, goiter by ultrasonography was found in 34% (n = 206) of all subjects, in 36.8% (n = 112) of girls and 31% (n = 94) of boys. Median iodine/creatinine ratios of all subjects, and goitrous and non-goitrous subjects, were 64.1+/-20.1, 62.8+/-21.8 and 64.9+/-19.1 microg/g, respectively. Urinary iodine excretion levels revealed mild iodine deficiency in the region. No significant correlation was observed between urinary iodine excretion levels and thyroid volumes (r = 0.12, p>0.05). Iodine deficiency of mild to moderate degree in schoolchildren aged 6-11 years was detected in Antalya. It was concluded that urgent measures must be undertaken to eradicate iodine deficiency in the region.
Asunto(s)
Bocio/epidemiología , Yodo/orina , Glándula Tiroides/anatomía & histología , Niño , Femenino , Bocio/patología , Humanos , Yodo/deficiencia , Masculino , Prevalencia , Turquía/epidemiologíaRESUMEN
BACKGROUND: To evaluate the growth hormone reserve and the growth hormone response to recombinant human growth hormone (GH) in prepubertal thalassemic children with growth retardation. METHODS: Twenty thalassemic patients with short stature and delayed bone age were studied. Patients were randomized into GH-treated (n = 10) and non-GH treated (control; n = 10) groups. The GH-treated group received recombinant human (rh)-GH (Genotropin) at the dose of 0.7 IU/kg per week for 12 months. RESULTS: There was a significant discordance between GH response to pharmacologic stimuli and physiological secretion of GH/GHRH testing. Following the administration of rhGH, growth velocity increased from 2.47 +/- 0.48 cm/year to 6.27 +/- 0.76 cm/year (P = 0.005), whereas there was not a similar change in the non-GH-treated group. The height velocities of the two groups during the 1 year follow-up period were significantly different (6.27 +/- 0.76 vs 3.99 +/- 0.34 cm/year; P = 0.025). There were significant differences between the height velocity improvements and height velocity standard deviation scores of the two groups as well. CONCLUSION: The present study has demonstrated that rhGH is a safe and efficacious mode of treatment in thalassemic children.
Asunto(s)
Estatura , Trastornos del Crecimiento/complicaciones , Trastornos del Crecimiento/tratamiento farmacológico , Hormona de Crecimiento Humana/uso terapéutico , Proteínas Recombinantes/uso terapéutico , Talasemia beta/complicaciones , Adolescente , Niño , Femenino , Humanos , Masculino , Estadísticas no ParamétricasRESUMEN
Empty sella syndrome (ESS) is a multicausal entity. The incidence of primary empty sella syndrome (PESS) in children with neuroendocrine dysfunction is not known. In the pediatric age group, frequency seems to have been underestimated. A total of 117 cases of neuroendocrine disorders, including complete growth hormone deficiency, primary hypothyroidism with pituitary resistance to thyroid hormone, obesity, central precocious puberty, hypothalamic hypogonadism and central diabetes insipidus, have been studied with computed tomography and/or magnetic resonance imaging of sellar region for etiologic evaluation. Twenty-one patients were found to have PESS. We noted a high incidence of PESS in children with neuroendocrine dysfunction (17.9%). Children with neuroendocrine dysfunction should be investigated with respect to PESS, and children with PESS recognized coincidentally should be studied with the particular consideration of subclinical neuroendocrine dysfunction.
Asunto(s)
Síndrome de Silla Turca Vacía/complicaciones , Enfermedades del Sistema Endocrino/complicaciones , Obesidad/complicaciones , Adolescente , Niño , Preescolar , Síndrome de Silla Turca Vacía/diagnóstico por imagen , Síndrome de Silla Turca Vacía/epidemiología , Femenino , Hormona del Crecimiento/deficiencia , Humanos , Masculino , Prevalencia , Tomografía Computarizada por Rayos X , Turquía/epidemiologíaRESUMEN
A total of 54 previously untreated patients (15 girls, 39 boys) with poor growth due to idiopathic growth hormone deficiency (IGHD) were treated with human growth hormone (hGH), continuously up to 4 years. All of the patients had a peak hGH level which was below 10 ng/mL after at least two pharmacological tests and/or blunted physiologic hGH secretion, and their height was below -2.5 s.d. for age and gender. After the 1st year of therapy, height velocity (HV) increased significantly when compared with baseline (from 3.18 +/- 0.76 cm/year to 9.17 +/- 1.03 cm/year; P < 0.001), declined during the 2nd year and then remained significantly higher than pretreatment HV. When considering improvement in height expressed by height standard deviation score (SDS), during the therapy all of the patients showed a significant gain +/- 1.72 +/- 1.09 (from -4.11 +/- 0.61 to -2.21 +/- 0.48). The height values were significantly higher than pretreatment, but remained below -2 s.d. after 4 years of hGH therapy in our patients. Increased height velocity has been sustained, but height improvement after therapy was inversely correlated to height SDS for chronological age of patients at the start of therapy. In conclusion post-treatment height has been shown to be related to height deficit at the beginning of therapy. Therapy was well tolerated with no local or systemic adverse effects or acceleration of bone age.