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1.
Horm Res Paediatr ; 86(2): 100-105, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27487045

RESUMEN

BACKGROUND/AIMS: Patients with type 1 diabetes mellitus (T1DM), autoimmune thyroiditis (ATD), and celiac disease (CD) are at increased risk for developing other autoimmune diseases. We evaluated zinc transporter 8 (ZnT8) prevalence in patients with ATD and/or CD in order to define the usefulness of ZnT8 autoantibodies for prediabetes screening. METHODS: Eighty-one young patients with ATD and/or CD were included in the study; 32 subjects with clinical onset of T1DM were enrolled as a control group. GAD65, IA-2, and ZnT8 antibodies were measured. An intravenous glucose tolerance test, C-peptide, glycosylated hemoglobin levels, and genomic analysis of HLA-DQA1* and -DQB1* were also considered in patients positive for autoantibodies. RESULTS: The ZnT8 prevalence was higher in T1DM patients than in patients with other autoimmune diseases (p < 0.001); positive ZnT8 detection was found in 2 ATD (p = 0.004) and 3 ATD + CD (p = 0.04) patients. Positive ZnT8 was associated with GAD65 (p = 0.01) but not with IA-2 positivity. No correlation between ZnT8 detection and the number of T1DM-susceptible HLA-DQ heterodimers was found. Pathological C-peptide levels and insulin response were found in subjects with islet autoimmunity and genetic susceptibility. CONCLUSION: ZnT8 autoantibodies detection in ATD and/or CD patients is low, and routine ZnT8 screening is not justified. ZnT8 evaluation may be recommended in subjects with autoimmune diseases as a marker for predicting compromised insulin secretion.


Asunto(s)
Autoanticuerpos/sangre , Proteínas de Transporte de Catión , Enfermedad Celíaca/sangre , Estado Prediabético/sangre , Tiroiditis Autoinmune/sangre , Adolescente , Biomarcadores/sangre , Enfermedad Celíaca/complicaciones , Enfermedad Celíaca/genética , Niño , Preescolar , Diabetes Mellitus Tipo 1/sangre , Diabetes Mellitus Tipo 1/genética , Femenino , Cadenas alfa de HLA-DQ/genética , Cadenas beta de HLA-DQ/genética , Humanos , Masculino , Estado Prediabético/complicaciones , Estado Prediabético/genética , Tiroiditis Autoinmune/complicaciones , Tiroiditis Autoinmune/genética , Transportador 8 de Zinc
2.
Eur J Med Genet ; 59(5): 269-73, 2016 May.
Artículo en Inglés | MEDLINE | ID: mdl-27058262

RESUMEN

AIM OF THE STUDY: Turmer syndrome (TS) patients show increased morbidity due to metabolic, autoimmune and cardiovascular disorders. A risk of neoplasia is also reported. Here, we review the prevalence of neoplasia in a cohort of Turner patients. METHODS: We retrospectively evaluated 87 TS women. Follow-up included periodic ultrasound of the neck, abdominal and pelvic organs, dermatologic evaluation and fecal occult blood test. Karyotype was 45,X in 46 patients. During follow-up, 63 girls were treated with growth hormone, 65 with estro-progestin replacement therapy and 20 with L-thyroxine. Autoimmune diseases were present in 29 TS. RESULTS: A total of 17 neoplasms in 14 out of 87 patients were found. Six skin neoplasia, 3 central nervous system tumors, 3 gonadal neoplasia, 2 breast tumors, 1 hepatocarcinoma, 1 carcinoma of the pancreas and 1 follicular thyroid cancer were detected. Age at tumor diagnosis was higher in 45,X pts than in those with other karyotypes (p = 0.003). Adenomioma gallbladdder (AG) was detected in 15.3% of the patients, with a lower age in girls at diagnosis with an associated neoplasia in comparison with TS without tumors (p = 0.017). No correlation between genetic make up, treatment, associated autoimmune diseases and neoplastia was found. CONCLUSION: In our TS population an increased neoplasia prevalence was reported. A high prevalence of AG was also noted and it might be indicative of a predisposition to neoplasia. Further studies are needed to define the overall risk for neoplasia, and to determine the role of the loss of the X-chromosome and hormonal therapies.


Asunto(s)
Adenomioma/genética , Neoplasias de la Vesícula Biliar/genética , Neoplasias/genética , Síndrome de Turner/genética , Adenomioma/complicaciones , Adenomioma/tratamiento farmacológico , Adenomioma/patología , Adulto , Cromosomas Humanos X/genética , Femenino , Estudios de Seguimiento , Neoplasias de la Vesícula Biliar/complicaciones , Neoplasias de la Vesícula Biliar/tratamiento farmacológico , Neoplasias de la Vesícula Biliar/patología , Predisposición Genética a la Enfermedad , Hormona del Crecimiento/administración & dosificación , Terapia de Reemplazo de Hormonas , Humanos , Cariotipo , Cariotipificación , Persona de Mediana Edad , Neoplasias/complicaciones , Neoplasias/patología , Síndrome de Turner/complicaciones , Síndrome de Turner/tratamiento farmacológico , Síndrome de Turner/patología
3.
J Clin Res Pediatr Endocrinol ; 8(2): 250-6, 2016 Jun 05.
Artículo en Inglés | MEDLINE | ID: mdl-26757831

RESUMEN

Weight loss surgery (WLS) is efficacious for long-term weight reduction and decreases overall mortality in severely obese patients. The mechanisms implicated in long-term weight loss are not fully understood. Proposed mechanisms include changes in gut hormones and brain regulation of appetite and satiety. We aimed to investigate the long-term ghrelin and leptin profiles and changes in food preference and eating behavior after WLS in adolescent patients. Two obese females aged 15 years and 14 4/12 years, who did not respond to lifestyle changes, including dietary intervention and physical exercise in combination with medical therapy, underwent robotic-assisted gastroplication. Anthropometric measurements, food habits and eating behavior, as well as metabolic and hormonal changes during long-term post-surgical follow-up were monitored. Long-term weight reduction was obtained in both patients, with a significant decrease in waist circumference. Resting energy expenditure showed a decrease over time, with a respiratory quotient that increased showing a shift from oxidation of a high-fat diet before surgery to oxidation of a mixed diet two and three years later. Both subjects improved their eating habits and lifestyle. Co-morbidity resolution was also noted. Increased pre-prandial ghrelin levels as well as higher post-prandial ghrelin and a leptin drop compared with pre-surgery values were observed in both patients. Persistent weight loss after gastroplication is associated with a favorable change in gut hormones and food preferences. The role of hormonal and sensory components in long-term results seems crucial. Particularly in adolescent patients, a multidisciplinary approach and continuous nutritional care is mandatory for weight maintenance and consolidation of changes.


Asunto(s)
Conducta Alimentaria/fisiología , Preferencias Alimentarias/fisiología , Gastroplastia/métodos , Obesidad/cirugía , Adolescente , Femenino , Estudios de Seguimiento , Ghrelina/sangre , Humanos , Leptina/sangre , Procedimientos Quirúrgicos Robotizados , Tiempo
4.
Acta Biomed ; 80(2): 117-23, 2009 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-19848048

RESUMEN

The metabolic syndrome (MetS) is a common basis for the development of atherogenic cardiovascular disease. Adiponectin has been demonstrated to be insulin-sensitizing and an anti-atherogenic factor and is considered a key ofMetS. It was suggested that IL-10 may be involved in the inflammatory network of MetS in relation to adiponectin. We examined the relationship between adiponectin, IL-10 and MetS in pediatric obese patients. MetS components were assessed in 70 severely obese and 30 non-obese children and adolescents. Serum levels of adiponectin and IL-10 were measured in these subjects. Serum adiponectin levels were significantly lower (p < 0.001) and levels of IL-10 were significantly higher (p = 0.012) in obese subjects. MetS was present in 35.71% of obese patients. Patients with MetS showed a borderline significant decrease in serum adiponectin levels and significantly increased IL-10 levels when compared to those without MetS (p = 0.051 and p = 0.031, respectively); the differences in adiponectin and IL-10 values were controlled to the effect of BMI. No correlation between adiponectin and IL-10 levels was found. Our obese children showed hypoadiponectin and hyper-IL10 values. MetS was not associated with low IL-10. We probably observe a first phase of the complex mechanism implicated in the development of the MetS in children.


Asunto(s)
Adiponectina/sangre , Interleucina-10/sangre , Síndrome Metabólico/sangre , Obesidad/sangre , Adolescente , Índice de Masa Corporal , Niño , Femenino , Humanos , Técnicas para Inmunoenzimas , Incidencia , Italia/epidemiología , Masculino , Síndrome Metabólico/epidemiología , Síndrome Metabólico/etiología , Obesidad/complicaciones , Obesidad/epidemiología
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