RESUMO
We aimed to identify the determinants of partial remission in patients with type 1 diabetes mellitus (DM), and whether there is an influence of vaccination against measles on partial remission. This was a retrospective study consisting of consecutive patients diagnosed with type 1 DM followed-up from 1 September 2010, through 30 November 2011. The study included children vaccinated within 3 months after diagnosis, and children unvaccinated during the first 12 months of the disease. The daily insulin dose, hemoglobin A1c, and C-peptide levels, and whether children are in partial remission based on the insulin dose-adjusted HbA1c were recorded at diagnosis and 3, 6, 9, 12, 24, and 36 months. A total of 55 children with type 1 DM were analyzed. Thirty-one patients (56.4%) reached partial remission during the follow-up period, whereas 24 of them did not. Patients with diabetic ketoacidosis (DKA) at diagnosis were less likely to reach partial remission than patients without DKA (odds ratio [OR], 0.24; 95% confidence interval [CI], 0.062-0.946; P = .038). Patients vaccinated against measles were more likely to be in partial remission than patients unvaccinated (OR, 4.2; 95% CI, 1.35-13; P = .011). Partial remission was significantly associated with the C-peptide level and insulin dosage at diagnosis P = .002; P = .013, respectively). The lack of DKA, higher C-peptide level, and lower insulin dosage at diagnosis, and vaccination against measles after diagnosis may have an influence on partial clinical remission in patients with new-onset type 1 DM.
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To evaluate the anthropometric features of girls with Turner syndrome (TS) at birth and presentation and the effect of karyotype on these parameters. Data were collected from 842 patients with TS from 35 different centers, who were followed-up between 1984 and 2014 and whose diagnosis age ranged from birth to 18 years. Of the 842 patients, 122 girls who received growth hormone, estrogen or oxandrolone were excluded, and 720 girls were included in the study. In this cohort, the frequency of small for gestational age (SGA) birth was 33%. The frequency of SGA birth was 4.2% (2/48) in preterm and 36% (174/483) in term neonates (P < 0.001). The mean birth length was 1.3 cm shorter and mean birth weight was 0.36 kg lower than that of the normal population. The mean age at diagnosis was 10.1 ± 4.4 years. Mean height, weight and body mass index standard deviation scores at presentation were -3.1 ± 1.7, -1.4 ± 1.5, and 0.4 ± 1.7, respectively. Patients with isochromosome Xq were significantly heavier than those with other karyotype groups (P = 0.007). Age at presentation was negatively correlated and mid-parental height was positively correlated with height at presentation. Mid-parental height and age at presentation were the only parameters that were associated with height of children with TS. The frequency of SGA birth was found higher in preterm than term neonates but the mechanism could not be clarified. We found no effect of karyotype on height of girls with TS, whereas weight was greater in 46,X,i(Xq) and 45,X/46,X,i(Xq) karyotype groups.
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Cariótipo Anormal , Antropometria , Síndrome de Turner/diagnóstico , Síndrome de Turner/genética , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Fenótipo , Adulto JovemRESUMO
Pseudohypoaldosteronism type 1 (PHA1) is a disease involving a state of renal tubular unresponsiveness to the action of aldosterone and characterized by excessive salt loss in the urine, hyperkalemia, and metabolic acidosis. In kidney, PHA1 may occur primarily by mutations in the subunits of the sodium channel or in the mineralocorticoid receptors, and secondarily by several renal disorders. Miliaria rubra and thrombocytosis are reported in a 6-month-old girl with PHA1. In patients with PHA1, miliaria rubra-like cutaneous eruptions are suggested to occur due to obstruction of eccrine sweat glands through inflammation caused by excessive sodium excretion in sweat during hyponatremic crises. The presence of thrombocytosis in patients with PHA1 has not been previously reported. A hypothesis is proposed suggesting that sympathetic activation which provides vascular tonus during sodium excretion in sweat and salt-depletion crisis may play a role in the development of eruptions and thrombocytosis in patients with PHA1.
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Miliária/complicações , Pseudo-Hipoaldosteronismo/complicações , Trombocitose/complicações , Feminino , Humanos , Lactente , Miliária/tratamento farmacológico , Pseudo-Hipoaldosteronismo/tratamento farmacológico , Trombocitose/tratamento farmacológicoRESUMO
AIM: Assisted reproduction technology is used widely all over the world. There is a great concern about the morbidity of in vitro fertilization (IVF) babies, but investigations are mostly related to mechanical conditions that are attributed to multiparity. This paper aimed to investigate the effect of IVF on thyroid functions in newborns. METHODS: A total of 98 healthy, term IVF newborns were evaluated between postnatal 2-4 weeks of age by screening of thyroid functions between July 2006 and April 2008. Ten subjects were assessed as a study group whose thyroid-stimulating hormone (TSH) levels were higher than 6.5 mU/L. Control group consisted of randomly selected 10 naturally conceived infants with hyperthyrotropinemia (whose TSH levels were higher than 6.5 mU/L but under 15 mU/L) with the same age. All children were thoroughly examined, and serum fT4, TSH, anti-thyroid peroxidase and anti-thyroglobulin antibodies were measured, and a thyrotropin-releasing hormone (TRH) test was performed in all subjects in both groups. RESULTS: Euthyroid hyperthyrotropinemia was diagnosed in approximately 10% of IVF babies. Exaggerated TSH levels to TRH were obtained in all IVF babies (subclinical hypothyroidism) but in none of the controls. A significant difference was noted in the concentration of TSH at the 20th min between the two groups (p < 0.001). Besides, sustained and delayed TSH responses were observed in IVF babies. Neonatal screening tests were negative in both of the groups. CONCLUSION: In IVF babies, despite normal neonatal screening tests, subclinical hypothyroidism might be observed that suggests the need for screening in this respect.
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Fertilização in vitro/efeitos adversos , Glândula Tireoide/fisiopatologia , Tireotropina/sangue , Feminino , Humanos , Hipotireoidismo/epidemiologia , Hipotireoidismo/etiologia , Recém-Nascido , MasculinoRESUMO
Rett syndrome (RS) is a neurodevelopmental disorder mainly affecting girls. It is characterized by a normal prenatal and perinatal period, apparently normal development for the first 6 months of life, and then a decelaration in head growth, loss of hand and communication skills, psychomotor retardation, as well as the development of sterotyped hand movement and truncal or gait apraxia. It has been shown to be related to mutations in the MECP2 gene located on Xq28. Diabetes mellitus (DM) type 1 may be associated with certain genetic disorders such as Down syndrome, Turner syndrome, and Klinefelter syndrome. In this work, we report the case of a 9-year-old girl with RS who developed DM at the age of 6. To our knowledge, our patient is the third case reported to date of DM associated with Rett syndrome.
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Diabetes Mellitus Tipo 1/etiologia , Síndrome de Rett/complicações , Criança , Ilhas de CpG , Metilação de DNA , Feminino , Humanos , Proteína 2 de Ligação a Metil-CpG/fisiologia , Síndrome de Rett/genéticaRESUMO
AIM: To investigate uterine and ovarian ultrasonography in healthy girls and establish reliable cut-off limits in the Turkish population. METHODS: The study was performed on 90 girls between 6 and 16 years of age with bone age, hormonal evaluation and pelvic ultrasounds. Total uterine length (TUL), anteroposterior diameters of corpus (COAP), anteroposterior diameters of cervix (CEAP), fundus/cervix ratio (F/C), uterine volume (UV), ovarian volume (OV) and morphology were obtained. The data were stratified according to various pubertal stages and ages. RESULTS: Age-related increases of pelvic organs were noted after 10-10.9 years. Significant correlation was detectable between age and OV, TUL and UV in pubertal girls, but age only correlated with OV in prepubertal girls. A cut-off value of 4 cm for TUL, 2.57 cm(3) for UV and 1.58 cm(3) for OV were the best discrimination values for entering puberty. CONCLUSION: The data herein may be useful in screening cases around puberty when continuous changes take place.
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Ovário/diagnóstico por imagem , Puberdade/fisiologia , Ultrassonografia/normas , Útero/diagnóstico por imagem , Adolescente , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Ovário/anatomia & histologia , Ovário/crescimento & desenvolvimento , Valor Preditivo dos Testes , Valores de Referência , Sensibilidade e Especificidade , Turquia , Útero/anatomia & histologia , Útero/crescimento & desenvolvimentoRESUMO
AIM: The aim of the study was to evaluate the role of selenium (Se) in childhood autoimmune thyroiditis regarding its effect on thyroid-stimulating hormone (TSH), free thyroxine (fT4), thyroid peroxidase antibodies (TPOAb), thyroglobulin antibody (TgAb), and thyroid morphology. METHODS: Newly diagnosed 23 euthyroid children (mean age, 12.3 +/- 2.4 years) with Hashimoto thyroiditis (HT) received only 50 microg L-selenomethionine per day for 3 months. The baseline basal urinary iodine level, serum Se, TSH, fT4, TPOAb, and TgAb concentrations, and thyroid morphology by ultrasound were detected. We reanalyzed the TPOAb and TgAb changes at the 3rd month and then compared the thyroid morphology with 30 healthy individuals (mean age, 12.1 +/- 2.1 years) at the 6th month. RESULTS: Serum TPOAb, TgAb, and thyroid echogenicity were unchanged with Se supplementation. A prominent decrease in thyroid volume was noteworthy; 35% of patients showed a thyroid volume regression rate of > or = 30%. CONCLUSION: In terms of TPOAb and TgAb, Se may not benefit in the euthyroid period of HT, but Se supplementation seems to lead a favorable response in thyroid volume regression.
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Selênio/administração & dosagem , Tireoidite Autoimune/tratamento farmacológico , Administração Oral , Adolescente , Idade de Início , Autoanticorpos/sangue , Criança , Feminino , Humanos , Masculino , Tamanho do Órgão/efeitos dos fármacos , Projetos Piloto , Selênio/sangue , Selênio/farmacologia , Testes de Função Tireóidea , Tireoidite Autoimune/sangue , Tireoidite Autoimune/epidemiologia , Tireoidite Autoimune/patologia , Tireotropina/sangueRESUMO
Arachnoid cysts are mainly manifested with the consequent neurological disorders. Even though these cysts may interfere in many systems due to their localizations, there is little information concerning their involvement in endocrinological disorders. We emphasize endocrinological functions together with cyst localizations and neurological disorders in childhood. A total of 50 patients diagnosed with arachnoid cysts were screened for cyst localizations, neurological symptoms and endocrinological outcomes evaluated by pubertal and growth status and hypothalamopituitary insufficiency. We investigated the interactions of these parameters. Arachnoid cysts were localized mostly in the middle fossa (54%) and posterior fossa (26%). Middle fossa cysts had a strong predilection for male gender (66.7% male) and left hemispheric dominancy (77%). We detected growth hormone deficiency in six patients, obesity in six patients and central precocious puberty in one patient; cysts were in the temporal area in three of the obese cases. All patients in our study had normal levels of cortisol, thyroid hormones and prolactin. In pediatric patients with arachnoid cysts, endocrinological follow-up is crucial as neurological outcomes and further evaluations are needed, mainly to confirm pubertal and growth status.
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Cistos Aracnóideos/complicações , Doenças do Sistema Endócrino/etiologia , Cistos Aracnóideos/diagnóstico , Cistos Aracnóideos/patologia , Criança , Pré-Escolar , Feminino , Humanos , MasculinoRESUMO
BACKGROUND: Vitamin D deficiency in childhood is a significant problem worldwide. Religious, social customs, and lack of food fortification were significant hurdles in the way of the rickets scourge. Recent data support a serum level of 25(OH)D level > 40 ng/mL as the appropriate standard to achieve to prevent rickets. Herein, the current approaches of preventing rickets and optimal level of different vitamin D intakes were evaluated. METHODS: A total of 148 fully breastfed, healthy children between age of 2-24 months were investigated by screening serum 25(OH)D from April 1 to May 31, 2006. Three groups were composed according to ages (2-6, 6-12, 12-24 months), and those groups were paired with three subgroups established according to vitamin D intake of ≤300, 400, and 600 IU/day. Vitamin D status was evaluated with regard to cut-off value of 15 ng/mL and 40 mg/dL. The clothing types and vitamin D supplementation of mothers were recorded. RESULTS: We found that 27.3% of cases in 2-6 months, 8.3% in 6-12 months and 30% in 12-24 months had 25(OH)D <15 ng/mL and 54.5, 33.3, and 50% of cases were <40 ng/dL with 400 IU/day vitamin D intake. With 600 IU/day supplementation, 14.3, 10.3, and 4.8% of cases had 25(OH)D <15 ng/mL, respectively. CONCLUSION: Vitamin D intake of 400 IU/day seems to be favorable at the first year in breastfed children but vitamin D deficiency was still evident after prophylaxis. Vitamin D supplementation should be at least 600 IU/day in Turkey, and nutrition policy should focus on the food fortification with vitamin D.
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Suplementos Nutricionais/normas , Alimentos Fortificados , Deficiência de Vitamina D/prevenção & controle , Vitamina D/sangue , Aleitamento Materno , Fenômenos Fisiológicos da Nutrição Infantil , Pré-Escolar , Estudos Transversais , Países em Desenvolvimento , Feminino , Humanos , Lactente , Masculino , Política Nutricional , Saúde Pública , Raquitismo/prevenção & controle , Turquia , Vitamina D/metabolismoRESUMO
BACKGROUND: Streptococcus pneumoniae is a rare cause of sepsis in the newborn. CASE: The term baby was admitted on complaint of dyspnea, and antibiotherapy was begun after samples for hemocultures were obtained with the suspicion of sepsis according to the clinical and laboratory data. S. pneumoniae was demonstrated in the vaginal culture of the mother of the patient whose lumbar punction and chest roentgenogram were normal but hemoculture revealed the propagation of S. pneumoniae. The patient, treated with antibiotherapy for 14 days, was discharged without any complications. CONCLUSION: In preventing the probable complications, it is important to absolutely treat the maternal pneumococcal colonization that can cause severe infections in the newborn and also to treat the newborns even if they are asymptomatic.
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Antibacterianos/uso terapêutico , Infecções Pneumocócicas/microbiologia , Complicações Infecciosas na Gravidez/microbiologia , Sepse/microbiologia , Streptococcus pneumoniae/crescimento & desenvolvimento , Adulto , Feminino , Humanos , Recém-Nascido , Masculino , Infecções Pneumocócicas/diagnóstico por imagem , Infecções Pneumocócicas/tratamento farmacológico , Gravidez , Complicações Infecciosas na Gravidez/tratamento farmacológico , Radiografia , Sepse/diagnóstico por imagem , Sepse/tratamento farmacológicoRESUMO
Increased intestinal permeability (IIP) precedes several autoimmune disorders. Although Hashimoto's thyroiditis (HT) is the most common autoimmune disorder, the role of IIP in its pathogenesis had received little attention. Zonulin plays a critical role in IIP by modulating intracellular tight junctions. Rise of serum zonulin levels were shown to indicate IIP in human subjects. In this case-control study, we examined the hypothesis that patients with HT have IIP. We studied 30 children and adolescents with HT, and 30 patients with congenital hypothyroidism (CH) matched for age, gender and body mass index (BMI). Serum zonulin levels, free thyroxine (fT4), thyroid stimulating hormone (TSH), anti-thyroglobulin antibody and anti-thyroid peroxidase antibody were measured. Zonulin levels were significantly higher in patients with HT than patients with CH (59.1±22.9 ng/mL vs. 43.3±32.9 ng/mL, p=0.035). In patients with HT, zonulin levels were positively correlated with weight (r=0.406, p=0.03), BMI (r=0.486, p=0.006) and levothyroxine dose (r=0.463, p=0.02). In patients with CH, zonulin levels were positively correlated with age (r=0.475, p=0.008), weight (r=0.707, p<0.001), BMI (r=0.872, p<0.001) and levothyroxine dose (r=0.485, p=0.007). After adjusting for age, weight, TSH and fT4 levels, serum zonulin was only associated with levothyroxine dose in patients with HT (R2=0.36, p=0.05). In patients with CH, only weight was associated with zonulin levels (R2=0.62, p<0.001). In conclusion, higher zonulin levels in children and adolescents with HT suggested IIP in these patients. Additionally, the association between zonulin levels and levothyroxine dose might imply a relationship between serum zonulin and disease severity.
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Doença de Hashimoto/complicações , Enteropatias/etiologia , Mucosa Intestinal/metabolismo , Adolescente , Autoanticorpos/sangue , Estudos de Casos e Controles , Criança , Hipotireoidismo Congênito/complicações , Hipotireoidismo Congênito/epidemiologia , Hipotireoidismo Congênito/metabolismo , Hipotireoidismo Congênito/patologia , Feminino , Haptoglobinas , Doença de Hashimoto/epidemiologia , Doença de Hashimoto/metabolismo , Doença de Hashimoto/patologia , Humanos , Enteropatias/epidemiologia , Enteropatias/metabolismo , Enteropatias/patologia , Mucosa Intestinal/patologia , Masculino , Permeabilidade , Projetos Piloto , Precursores de Proteínas/sangue , Hormônios Tireóideos/sangue , Tireotropina/sangue , Tiroxina/sangue , Turquia/epidemiologiaRESUMO
INTRODUCTION: In this study, we have investigated the role of leptin, soluble leptin receptor(sOb-R), resistin, and insulin secretory dynamics in the development of hypothalamic obesity. MATERIALS AND METHODS: Children who had hypothalamo-pituitary tumor were divided into two groups. First group included obese-overweight (hypothalamic obese = HOB group, n = 23) and second group included non-obese children (hypothalamic non-obese = HNOB group, n = 16). Exogenously obese-overweight children (OB group, n = 22) were included as controls. Basal and second-hour serum glucose and insulin in oral glucose tolerance test (OGTT), basal serum leptin, sOb-R, resistin levels, and homeostasis model assessment (HOMA) indexes were compared between the groups. RESULTS: Age, sex, and pubertal status were similar in study groups. Median and interquartile ranges of body mass index (BMI) z scores were similar in HOB and OB groups (2.0 (1.5-2.1) and 2.1 (1.8-2.3), respectively). Serum leptin levels corrected for BMI were highest and total leptin/sOb-R ratios (free leptin index (FLI)) tended to be higher in HOB than HNOB and OB groups, indicating leptin resistance (leptin/BMI, 4.0 (1.6-5.2), 1.5 (0.8-3.1), and 2.5 (1.8-3.5); FLI, 2.0 (0.8-3.5), 0.6 (0.3-1.2), and 1.5 (1-2.3) in HOB, HNOB, and OB groups; respectively). Serum resistin levels were similar in groups (2.6 (1.9-3.1), 2.8 (1.7-3.4), and 3.0 (2.2-3.5) ng/ml in HOB, HNOB, and OB groups, respectively). Basal serum glucose, basal and second-hour insulin levels in OGTT, and HOMA index were higher in OB group than the HOB and HNOB groups, indicating insulin resistance in simple obesity; however, increment of insulin to same glycemic load in OGTT was highest in the HOB group indicating insulin dysregulation (p < 0.05). CONCLUSION: Hypothalamic obesity seems to be related to both dysregulated afferent (leptin) and efferent (insulin) neural outputs through the autonomic nervous system resulting in energy storage as fat.
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Hipotálamo/metabolismo , Hipotálamo/fisiopatologia , Insulina/fisiologia , Leptina/fisiologia , Obesidade/metabolismo , Obesidade/fisiopatologia , Receptores para Leptina/fisiologia , Resistina/fisiologia , Adolescente , Astrocitoma/metabolismo , Astrocitoma/patologia , Astrocitoma/fisiopatologia , Índice de Massa Corporal , Criança , Craniofaringioma/metabolismo , Craniofaringioma/patologia , Craniofaringioma/fisiopatologia , Disgerminoma/metabolismo , Disgerminoma/patologia , Disgerminoma/fisiopatologia , Feminino , Teste de Tolerância a Glucose , Índice Glicêmico , Homeostase/fisiologia , Humanos , Neoplasias Hipotalâmicas/metabolismo , Neoplasias Hipotalâmicas/patologia , Neoplasias Hipotalâmicas/fisiopatologia , Hipotálamo/patologia , Insulina/sangue , Leptina/sangue , Masculino , Resistina/sangueRESUMO
Objective To investigate the relationship between brain masculinization and retinal thickness in children with congenital adrenal hyperplasia (CAH). Methods Forty-five patients with CAH aged between 4 and 18 years and 30 age-matched healthy controls were included in this prospective study. Macular area was examined with optical coherence tomography (OCT); central subfield thickness (CST), cube volume (CV) and macular retinal thickness (MT) were measured in each subject. A gender identity questionnaire (GIQ) was used for the evaluation of gender happiness index. Results Girls with CAH had a higher CV (p = 0.002) and MT (p = 0.003) than healthy girls. No significant difference was found between boys with CAH and healthy boys regarding the retinal thickness measurements. Mean CST, CV and MT were significantly higher in boys than in girls in the control group (p = 0.013, p < 0.001, respectively), but there was no significant difference in those parameters between girls and boys with CAH. The gender happiness index was not different between healthy boys and boys with CAH, but was significantly lower in girls with CAH than healthy girls (p = 0.01). Conclusions As retina is part of the brain, our finding appears to be a morphological evidence of the excess androgen exposure on brain structures in girls with CAH. In addition, we suggest using retinal thickness measurements as a marker of prenatal excess androgen exposure in future studies.
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Hiperplasia Suprarrenal Congênita/complicações , Encefalopatias/diagnóstico , Retina/patologia , Virilismo/diagnóstico , Adolescente , Encefalopatias/etiologia , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Masculino , Projetos Piloto , Prognóstico , Estudos Prospectivos , Virilismo/etiologiaRESUMO
AIM: To evaluate serum neopterin levels and their correlations with liver function tests and histological grade in children with hepatitis-B-related chronic liver disease. METHODS: The study population comprised 48 patients with chronic active hepatitis B, 32 patients with hepatitis-B-related active liver cirrhosis and 40 normal controls. Serum neopterin was measured using an enzyme-linked immunosorbent assay. RESULTS: The mean +/- SD serum neopterin levels were 14.2 +/- 5.6 nmol/L in patients with chronic hepatitis, 20.3 +/- 7.9 nmol/L in patients with liver cirrhosis and 5.2 +/- 1.4 nmol/L in control group. Serum neopterin levels were significantly higher in patients with chronic hepatitis (P = 0.005) and cirrhosis patients (P = 0.008), than in control subjects. Cirrhotic patients had significantly higher serum neopterin levels than patients with chronic hepatitis (P = 0.004). There was a positive correlation between serum neopterin levels and alanine aminotransferase levels in patients with chronic hepatitis (r = 0.41, P = 0.004) and cirrhotic patients (r = 0.39, P = 0.005). Positive correlations were detected between serum neopterin levels and inflammatory score in patients with chronic hepatitis (r = 0.51, P = 0.003) and cirrhotic patients (r = 0.49, P = 0.001). CONCLUSION: Our results suggest that serum neopterin levels can be considered as a marker of inflammatory activity and severity of disease in children with hepatitis-B-related chronic liver disease.
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Hepatite B Crônica/sangue , Cirrose Hepática/sangue , Neopterina/sangue , Adolescente , Biomarcadores/sangue , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Hepatite B Crônica/complicações , Hepatite B Crônica/patologia , Humanos , Cirrose Hepática/etiologia , Cirrose Hepática/patologia , Testes de Função Hepática , Masculino , Valor Preditivo dos Testes , Índice de Gravidade de Doença , Regulação para CimaRESUMO
AIMS: To investigate the frequency of thyroid dysgenesis (TD) in first-degree relatives of TD cases. METHODS: 244 first-degree relatives of 82 TD cases were screened by thyroid ultrasound (USG), T(4), fT(4) and TSH. USG was also performed in 220 unrelated, age- and sex-matched healthy controls to obtain normative data for thyroid volumes. RESULTS: Specific diagnoses of indexes were 35 ectopia, 22 athyreosis, 14 severe hypoplasia, 8 hypoplasia, and 3 hemiagenesis/asymmetric hypoplasia. In 5 of 77 families (6.5%), there were 2 cases with known symptomatic TD. A total of 10 cases made familial symptomatic TD ratio 12% (10/82) in our cohort. Screening of 244 asymptomatic family members did not reveal new cases with overt hypothyroidism. However, low thyroid volume in 15 and slightly elevated TSH in 6 family members and both in 1 family member were detected (7.4% for low thyroid volume, 3.2% for high TSH). Thus, the ratio of affected (symptomatic and asymptomatic) family members among families of TD cases was found to be 8.7%. CONCLUSIONS: 12% of TD cases are familial in our cohort. Screening of asymptomatic family members of TD revealed an additional 7.4% mild hypoplasia and 3.2% hyperthyrotropinemia without overt hypothyroidism which points out the importance of genetic factors in pathogenesis.
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Disgenesia da Tireoide/diagnóstico , Glândula Tireoide/diagnóstico por imagem , Tireotropina/sangue , Tiroxina/sangue , Adolescente , Adulto , Estudos de Casos e Controles , Criança , Pré-Escolar , Estudos de Coortes , Humanos , Lactente , Programas de Rastreamento , Pessoa de Meia-Idade , Tamanho do Órgão , Linhagem , Disgenesia da Tireoide/epidemiologia , Disgenesia da Tireoide/genética , Disgenesia da Tireoide/patologia , Glândula Tireoide/patologia , Ultrassonografia , Adulto JovemRESUMO
This retrospective study evaluated the clinical and laboratory characteristics at presentation and treatment results of patients with Graves' disease (GD) with respect to pubertal status. Records of 143 patients (108 F, 35 M) were reviewed in a multicenter study. At diagnosis, 38% of patients were prepubertal. Anti-thyroid drugs (ATD) were used as initial therapy. There was no significant difference in clinical and laboratory characteristics at diagnosis, during treatment and adverse reaction to ATD with respect to pubertal status. Twenty patients (7 prepubertal, 13 pubertal) reached remission on ATD. Surgery was performed in seven and radioiodine (RAI) in four patients. Duration of treatment needed to achieve remission was longer in prepubertal (4.2 +/- 1.0 yr) than in pubertal patients (3.1 +/- 1.3 yr) (p = 0.02). The rate of remission was not different between prepubertal (25.9%) and pubertal patients (33.3%) (p = 0.59). ATD were associated with low remission rate in pediatric GD and required longer duration of therapy in prepubertal patients. For definitive treatment in older children, RAI could be evaluated as the initial therapy.
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Doença de Graves/diagnóstico , Doença de Graves/terapia , Puberdade/fisiologia , Adolescente , Algoritmos , Antitireóideos/uso terapêutico , Pesos e Medidas Corporais , Criança , Pré-Escolar , Feminino , Seguimentos , Doença de Graves/fisiopatologia , Humanos , Lactente , Masculino , Indução de Remissão , Estudos RetrospectivosRESUMO
PURPOSE: Type 1 diabetes mellitus (T1DM) is a chronic and immune-mediated disease, which is characterized by the progressive destruction of pancreatic beta cells. T1DM precipitates in genetically susceptible individuals through environmental factors. In this study, we aimed to evaluate the impact of autoimmunity and intestinal colonization of Candida albicans on the development of T1DM. METHODS: Forty-two patients newly diagnosed with T1DM and 42 healthy subjects were included in this monocentric study. The basic and clinical characteristics of the patients were recorded. T1DM-, thyroid-, and celiac-associated antibodies were evaluated. Stool cultures for C. albicans were performed to assess whether or not gut integrity was impaired in patients with T1DM. RESULTS: The evaluation of T1DM- and thyroid-associated antibodies showed that the prevalences of islet cell antibodies and antithyroperoxidase positivity were higher in the study patients than in the patients in the control group. Furthermore, the direct examination and culture of fresh stool samples revealed that 50% of the patients with T1DM and 23.8% of the control subjects had fungi (C. albicans). CONCLUSION: Through this study, we suggest that the presence of intestinal C. albicans colonization at the time of the diagnosis of T1DM may indicate impairment of normal intestinal microbiota. We also suggest that there may be a tendency of T1DM in patients with a high prevalence of intestinal C. albicans.
RESUMO
Spontaneous intracranial hypotension (SIH) is a rare and potentially serious condition in childhood. Cerebrospinal fluid (CSF) volume depletion is thought to be the main causative feature for intracranial hypotension and results from a spontaneous CSF leak, often at the spine level. SIH is increasingly diagnosed in clinical practice, although it manifests a varied symptomatology. The downward displacement of the brain, sometimes mimicking a Chiari I malformation, has rarely been reported. We present a case of a SIH with Chiari I malformation accompanied by an unusual clinical presentation of persistent hypoglycemia.
Assuntos
Malformação de Arnold-Chiari/diagnóstico , Vazamento de Líquido Cefalorraquidiano/diagnóstico , Hipoglicemia/diagnóstico , Hipotensão Intracraniana/diagnóstico , Adolescente , Malformação de Arnold-Chiari/etiologia , Vazamento de Líquido Cefalorraquidiano/complicações , Diagnóstico Diferencial , Feminino , Humanos , Hipoglicemia/complicações , Hipotensão Intracraniana/complicações , SíndromeRESUMO
BACKGROUND: The aim of the study was to assess the response to growth hormone (GH) treatment in very young patients with GH deficiency (GHD) through a national, multi-center study. Possible factors affecting growth response were assessed (especially mini-puberty). METHODS: Medical reports of GHD patients in whom treatment was initiated between 0 and 3 years of age were retrospectively evaluated. RESULTS: The cohort numbered 67. The diagnosis age was 12.4±8.6 months, peak GH stimulation test response (at diagnosis) as 1.0±1.4 ng/mL. The first and second years length gain was 15.0±4.3 and 10.4±3.4 cm. Weight gain had the largest effect on first year growth response; whereas weight gain and GH dose were both important factors affecting second year growth response. In the multiple pituitary hormone deficiency (MPHD) group (n=50), first year GH response was significantly greater than in the isolated GH deficiency (IGHD) group (n=17) (p=0.030). In addition first year growth response of infants starting GH between 0 and 12 months of age (n=24) was significantly greater than those who started treatment between 12 and 36 months of age (n=43) (p<0.001). These differences were not seen in the second year. Δ Length/height standard deviation score (SDS), Δ body weight SDS, length/height SDS, weight SDS in MPHD without hypogonadism for the first year of the GH treatment were found as significantly better than MPHD with hypogonadism. CONCLUSIONS: Early onsets of GH treatment, good weight gain in the first year of the treatment and good weight gain-GH dose in the second year of the treatment are the factors that have the greatest effect on length gain in early onset GHD. The presence of the sex steroid hormones during minipubertal period influence growth pattern positively under GH treatment (closer to the normal percentage according to age and gender).
Assuntos
Nanismo Hipofisário/tratamento farmacológico , Terapia de Reposição Hormonal , Hormônio do Crescimento Humano/uso terapêutico , Hipoglicemia/prevenção & controle , Hipogonadismo/prevenção & controle , Hipopituitarismo/tratamento farmacológico , Puberdade Tardia/prevenção & controle , Fatores Etários , Estatura/efeitos dos fármacos , Desenvolvimento Infantil/efeitos dos fármacos , Pré-Escolar , Estudos de Coortes , Nanismo Hipofisário/sangue , Nanismo Hipofisário/fisiopatologia , Feminino , Terapia de Reposição Hormonal/efeitos adversos , Hormônio do Crescimento Humano/sangue , Hormônio do Crescimento Humano/deficiência , Hormônio do Crescimento Humano/genética , Humanos , Hipoglicemia/etiologia , Hipogonadismo/etiologia , Hipopituitarismo/sangue , Hipopituitarismo/fisiopatologia , Lactente , Masculino , Puberdade Tardia/etiologia , Proteínas Recombinantes/uso terapêutico , Estudos Retrospectivos , Turquia , Aumento de Peso/efeitos dos fármacosRESUMO
Objective: To assess the incidence of type 1 diabetes mellitus (T1DM) in children under 18 years of age in the northwest region of Turkey during 2013-2015. Methods: All newly diagnosed T1DM cases were recorded prospectively during 2013-2015. Total, as well as gender and age group specific (0-4, 5-9, 10-14 and 15-17 age) mean incidences per 100,000 per year were calculated. Results: There were 1,773 patients diagnosed during 2013-2015 (588 cases in 2013, 592 cases in 2014, 593 cases in 2015). Of these, 862 (48.6%) were girls and 911 (51.4%) were boys. The mean age at diagnosis was 9.2±4.2 years and it was not significantly different between girls (9.0±4.1 years) and boys (9.4±4.4 years) (p=0.052). The crude mean incidence was 8.99/100.000 confidence interval (CI) (95% CI: 8.58-9.42). Although mean incidence was similar between boys [8.98/100.000 (CI: 8.40 to 9.58)] and girls [9.01/100.000 (CI: 8.42 to 9.63)], there was male predominance in all groups except for 5-9 year age group. The standardized mean incidence was 9.02/100.000 according to the World Health Organization standard population. The mean incidence for the 0-4, 5-9, 10-14 and 15-17 age groups was 6.13, 11.68, 11.7 and 5.04/100.000 respectively. The incidence of T1DM was similar over the course of three years (p=0.95). A significant increase in the proportion of cases diagnosed was observed in the autumn-winter seasons. Conclusion: The northwest region of Turkey experienced an intermediate incidence of T1DM over the period of the study.