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1.
Acta Paediatr ; 104(3): e106-11, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25492521

RESUMO

AIM: This study aimed to demonstrate that viral bronchiolitis is associated with intermittent oxygen saturation of haemoglobin (SpO2 ) drops (≥3%) and low basal SpO2 between episodes of haemoglobin desaturation. METHODS: Infants with bronchiolitis underwent pulse oximetry during the first night following hospital admission and a subgroup of them underwent repeat oximetry before hospital discharge. Oximetry was also performed in infants with partial upper airway obstruction (UAO) and without lung disease and in control participants without UAO or lung disease. RESULTS: We enrolled 53 infants: 21 with bronchiolitis, 11 with UAO and 21 healthy controls. Participants with bronchiolitis had lower basal SpO2 (median 93.7% [10th-90th percentiles: 91.1-96.8]) than the subjects with UAO (96.9% [95.3-98.1]; p < 0.01) or the controls (98.7% [96.9-99.3]; p < 0.01). The bronchiolitis group was not different from the UAO group regarding the desaturation index (23.3 episodes/hour [10.3-46.6] and 15.5 episodes/hour [5.4-36.4], respectively; p = 0.08), but differed significantly from the controls (3.1 episodes/hour [0.3-5.5]; p < 0.01). The basal SpO2 and desaturation index improved in 10 subjects with bronchiolitis who had follow-up oximetry before discharge, but these indices remained abnormal when compared to values in the control group. CONCLUSION: Bronchiolitis was characterised by low nocturnal basal SpO2 and intermittent SpO2 drops.


Assuntos
Bronquiolite Viral/fisiopatologia , Oxigênio/sangue , Oxiemoglobinas/metabolismo , Biomarcadores/sangue , Bronquiolite Viral/sangue , Estudos de Casos e Controles , Ritmo Circadiano , Feminino , Seguimentos , Humanos , Lactente , Masculino , Oximetria
2.
Pediatr Endocrinol Rev ; 8 Suppl 2: 290-4, 2011 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-21705980

RESUMO

In patients with b-thalassemia major (TM), the anterior pituitary gland is particularly sensitive to free radical stresses. It has been reported that the GH deficiency (GHD) may be secondary to either pituitary or hypothalamic dysfunction. The duration of the disease, the patient's age and the severity of iron overload are the most important factors responsible for the defect of growth hormone (GH) secretion. Recent reports have documented a frequency of severe growth hormone deficiency in 13%-32% of patients with b-thalassemia major. All of these patients underwent GH-releasing hormone (GH-RH) plus arginine (ARG) testing. We undertook the present study to evaluate the GH and adrenal response during glucagon stimulation test (GST) in patients with TM because the GH-RH plus ARG test in patients with hypothalamic GHD may be misleading. Thirty-three adult TM patients were recruited (mean age 36.6 years). Fifty four percent were included in the severe GHD group (GH peak below 3mg/l). The IGF-1 level in TM patients was consistently low (60.3 ± 35.3 mg/l) and 86.6% of patients with a normal GH response to GST had a low IGF-1 level. These findings are also indicative of a relative resistance to GH. In eight out of 18 TM patients (44.4%), the GHD was associated with hypogonadotropic hypogonadism. A positive correlation was found between GH peak after GST and IGF-1 level (r = 0.8, p: 0.003) and a negative correlation between the age of female TM patients and GH peak (r = 0.711, p: 0.007). All patients but one had no evidence of cardiac iron overload (mean T2* 30.4 ± 8.2 ms; range 14-44 ms). The mean LVEF (%) in TM patients was no different when compared to healthy controls. However, three patients with severe GHD and normal T2*were found to have reduced LVEF.One patient (4%) had a peak cortisol response to GST compatible to adrenal insufficiency. Nausea, headache and\or hypoglycemia occurred in 3 patients (12%) during GST. In conclusion, our study demonstrates that the presence of GHD is frequent in adult TM patients. According to the international guidelines for medical practice, we believe that before considering hormone replacement therapy, a second test to confirm the diagnosis of GHD and adrenal insufficiency is required.


Assuntos
Glucagon , Hormônio do Crescimento Humano/sangue , Fator de Crescimento Insulin-Like I/metabolismo , Síndrome de Laron , Volume Sistólico/fisiologia , Talassemia beta , Adolescente , Glândulas Suprarrenais/efeitos dos fármacos , Glândulas Suprarrenais/metabolismo , Adulto , Comorbidade , Técnicas de Diagnóstico Endócrino , Feminino , Fármacos Gastrointestinais/administração & dosagem , Glucagon/administração & dosagem , Hormônio do Crescimento Humano/deficiência , Humanos , Fator de Crescimento Insulin-Like I/biossíntese , Síndrome de Laron/diagnóstico , Síndrome de Laron/epidemiologia , Síndrome de Laron/metabolismo , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Talassemia beta/diagnóstico , Talassemia beta/epidemiologia , Talassemia beta/metabolismo
3.
Clin Biochem ; 44(12): 959-63, 2011 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-21635882

RESUMO

OBJECTIVES: The aim of this study was to identify the molecular defect in a group of 37 unrelated Greek Cypriot patients affected by NC-CAH and evaluate the relationship between the genotype, phenotype and adrenal androgen levels. DESIGN AND METHODS: Clinical evaluation, biochemical analysis of 17-OHP, Testosterone, Androstenedione, DHEA-S, direct DNA sequencing and MLPA analyses. RESULTS: Eleven known mutations were identified with the p.V281L being the most predominant and observed in 68.9% of the alleles. There was no difference between the two genotypes (mild/mild and mild/severe) with clinical presentation, whereas a proportional relationship between the type of mutation and adrenal androgen levels was found. CONCLUSION: The frequency of the underlying genetic defect in our patients with NC-CAH is similar to that observed in most Mediterranean populations. Although the genotype cannot solely explain the clinical expression of NC-CAH, discrimination between mild and severe alleles is crucial in antenatal diagnosis and genetic counselling.


Assuntos
Hiperplasia Suprarrenal Congênita/genética , Esteroide 21-Hidroxilase/genética , 17-alfa-Hidroxiprogesterona/sangue , Adolescente , Hiperplasia Suprarrenal Congênita/diagnóstico , Adulto , Androstenodiona/sangue , Criança , Chipre , Feminino , Frequência do Gene , Estudos de Associação Genética , Haplótipos , Humanos , Masculino , Mutação , Índice de Gravidade de Doença , Testosterona/sangue
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