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1.
J Endocrinol Invest ; 44(7): 1465-1474, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33095904

RESUMO

PURPOSE: Early institution of GH therapy in children with Prader-Willi syndrome (PWS) yields beneficial effects on their phenotype and is associated with a persistent improvement of body composition, both in the transition age and in adulthood. Reports from GH stimulation testing in PWS adults, however, suggest that GH deficiency (GHD) is not a universal feature of the syndrome, and the current Consensus Guidelines suggest to perform a reassessment of persistent GHD so as to continue GH therapy after reaching adult height. Few data about GH responsiveness to stimulation testing throughout the transitional period in PWS are available to date. Thus, we investigated the prevalence of GHD in a large cohort of patients with PWS during the transition phase. PATIENTS AND METHODS: One hundred forty-one PWS patients, 72 females and 69 males, aged 15.4-24.9 years, were evaluated by dynamic testing with growth hormone-releasing hormone (GHRH) plus arginine (GHRH + ARG). To define GHD, both BMI-dependent and BMI-independent diagnostic cut-off limits were considered. RESULTS: According to BMI-dependent criteria, 10.7% of normal weight (NW), 18.5% of overweight and 22.1% of obese PWS maintained a status of GHD. Similar results were obtained by adopting a cut-off limit specific for the adult age (26.2%), as well as criteria for the transition phase in NW subjects (25%). CONCLUSION: Our study shows that about 20% of patients with PWS fulfilled the criteria for GHD during the transitional age, suggesting the need of an integrated analysis of GH/IGF-I axis, in the context of the general clinical picture and other endocrine abnormalities, in all subjects after attainment of final stature.


Assuntos
Hormônio do Crescimento Humano/administração & dosagem , Hormônio do Crescimento Humano/metabolismo , Síndrome de Prader-Willi/tratamento farmacológico , Adolescente , Adulto , Arginina/metabolismo , Composição Corporal , Feminino , Seguimentos , Hormônio Liberador de Hormônio do Crescimento/metabolismo , Humanos , Fator de Crescimento Insulin-Like I/metabolismo , Masculino , Obesidade/fisiopatologia , Síndrome de Prader-Willi/metabolismo , Síndrome de Prader-Willi/patologia , Prognóstico , Estudos Retrospectivos , Adulto Jovem
2.
Nutr Metab Cardiovasc Dis ; 26(9): 842-7, 2016 09.
Artigo em Inglês | MEDLINE | ID: mdl-27381990

RESUMO

BACKGROUND AND AIMS: Prader-Willi syndrome (PWS) is characterized by a high incidence of altered glucose metabolism (AGM). However, epidemiological data on impaired fasting glucose (IFG), impaired glucose tolerance (IGT) and type 2 diabetes mellitus (T2DM) are still discordant. METHODS AND RESULTS: We performed a multicenter study based on 274 PWS patients [144 females, aged 20.3 ± 10.4 yrs (range: 8.1-50.1 years)] evaluating the prevalence for AGM in the entire group, and according to age (children <10 yrs; adolescents 10-18 yrs, and adults >18 yrs), Body Mass Index (BMI = kg/m(2)), gender, genotypes (deletion or uniparental disomy for chromosome 15), and GH therapy (GHT) (untreated, previously or currently treated). Altogether, AGM was detected in 67 (24.4%) of patients (0.7% IFG, 10.2% IGT, 13.5% T2DM). The prevalence of AGM was correlated to age (p = 0.001), BMI (p = 0.001) and HOMA-IR (p = 0.001). However, gender, genotype, and GHT did not influence AGM development in univariate analysis. These data were confirmed as positive predictors when inserted in a multivariate analysis model. CONCLUSION: This study is the first report on the prevalence of AGM in a large population of PWS. Overall, PWS subjects show a high prevalence of AGM that appears more common in obese and adult subjects. Our data confirm the main role of obesity on the individual metabolic risk clustering in PWS, and thus reinforce the concept that improvement in weight control remains the most important goal of any PWS treatment program.


Assuntos
Glicemia/metabolismo , Transtornos do Metabolismo de Glucose/epidemiologia , Síndrome de Prader-Willi/epidemiologia , Adolescente , Adulto , Distribuição por Idade , Biomarcadores/sangue , Distribuição de Qui-Quadrado , Criança , Feminino , Transtornos do Metabolismo de Glucose/sangue , Transtornos do Metabolismo de Glucose/diagnóstico , Hormônio do Crescimento Humano/uso terapêutico , Humanos , Resistência à Insulina , Itália/epidemiologia , Modelos Lineares , Masculino , Síndrome Metabólica/epidemiologia , Pessoa de Meia-Idade , Análise Multivariada , Obesidade/epidemiologia , Síndrome de Prader-Willi/sangue , Síndrome de Prader-Willi/diagnóstico , Síndrome de Prader-Willi/tratamento farmacológico , Prevalência , Estudos Retrospectivos , Fatores de Risco , Adulto Jovem
3.
Dis Esophagus ; 29(1): 10-4, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25345864

RESUMO

Esophageal multiple intraluminal impedance baseline is an additional impedance parameter that was recently related to esophageal integrity. The aim of this study was to assess the relationship between mean esophageal impedance value and endoscopic findings in a large group of children. Children with symptoms of gastroesophageal reflux submitted to both endoscopy and impedance were included. Esophagitis was graded according to the Los Angeles classification. Mean impedance value was automatically calculated over 24-hour tracings. Data were adjusted for age through z-score transformation using percentiles normalized by the LMS (Lambda for the skew, Mu for the median, and Sigma for the generalized coefficient of variation) method. Nonparametric Mann-Whitney and Kruskal-Wallis tests, multiple, and stepwise regression were used. P-value <0.05 was considered as statistically significant. A total of 298 impedance tracings were analyzed. Endoscopic and histological esophagitis were detected in 30 and 29% patients, respectively. Median baseline z-score was significantly decreased both in proximal (P = 0.02) and distal (P = 0.01) esophagus in patients with endoscopic (but not histological) esophagitis. Patients with more severe esophagitis showed the lowest z-score. Bolus exposure index and the number of reflux episodes were the variables that were significantly associated with the baseline z-score. Impedance z-score is significantly decreased in infants and children with endoscopic esophagitis. Severity of esophagitis, bolus exposure index, and number of reflux episodes are factors influencing mean esophageal impedance.


Assuntos
Impedância Elétrica , Monitoramento do pH Esofágico/métodos , Refluxo Gastroesofágico , Pré-Escolar , Esofagite Péptica/diagnóstico , Esofagite Péptica/fisiopatologia , Esofagoscopia/métodos , Esôfago/fisiopatologia , Feminino , Refluxo Gastroesofágico/diagnóstico , Refluxo Gastroesofágico/fisiopatologia , Humanos , Concentração de Íons de Hidrogênio , Lactente , Masculino , Reprodutibilidade dos Testes , Estatística como Assunto
4.
Dis Esophagus ; 27(8): 726-31, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24118437

RESUMO

Impedance baseline is a new parameter recently related to esophageal integrity. The aim of this study was to assess the effect of different factors on impedance baseline in pediatric patients. We analyzed the impedance baseline of 800 children with symptoms of gastroesophageal reflux. Mean impedance baseline was automatically calculated throughout 24-hour tracings. The presence of different age groups and of esophagitis was evaluated. Unpaired t-test, Spearman rank correlation, polynomial, and regression plot were used for statistical analysis. Age-related percentile curves were created. We considered a P-value<0.05 as statistically significant. Impedance baseline was significantly (P<0.001) lower in younger compared to older children up to 48 months. The mean increase of baseline per month was much higher in the first 36 months of life (47.5 vs. 2.9 Ohm in Channel 1 and 29.9 vs. 2.3 Ohm in Channel 6, respectively) than in older ages. Patients with esophagitis showed significantly decreased impedance baseline (P<0.05). Infants (especially in the first months of life) and young children present a significantly lower impedance baseline compared to older children both in proximal and distal esophagus. The presence of esophagitis may also determine a decreased impedance baseline regardless of the age of the patients.


Assuntos
Esofagite/fisiopatologia , Esôfago/fisiopatologia , Adolescente , Fatores Etários , Criança , Pré-Escolar , Impedância Elétrica , Monitoramento do pH Esofágico , Esofagite/diagnóstico , Esofagoscopia , Feminino , Refluxo Gastroesofágico/diagnóstico , Humanos , Lactente , Recém-Nascido , Masculino
5.
Acta Diabetol ; 51(1): 43-51, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23508374

RESUMO

A multi-centre, observational, cross-sectional study was carried out to determine whether the health-related quality of life (HRQOL) of adolescents with type 1 diabetes is affected by different insulin treatment systems, and which features of HRQOL are impacted by the respective insulin treatment. The study regarded 577 adolescents, aged 10-17 years, with type 1 diabetes treated with continuous subcutaneous insulin infusion (CSII) (n = 306) or multiple daily injections (MDI) (n = 271). The Insulin Delivery System Rating Questionnaire was validated in Italian and was self-completed by the subjects during a routine visit to the centres. Subjects were compared following the domains of the questionnaire. Good HRQOL was seen in subjects treated with either MDI or CSII. Significant differences were not found in the domains for general diabetes, including diabetes worries, social burden and psychological well-being. Multiple quantile regression analysis showed that CSII confers significant advantages in terms of HRQOL with improvements in treatment satisfaction, perceived clinical efficacy and reduction in treatment interference with daily activities. This favourable impact was more evident in subjects reporting lower HRQOL scores, suggesting that CSII may be especially useful for individuals perceiving a poor HRQOL. Analysis of the domains indicated that CSII was associated with a higher HRQOL than MDI. Life-course HRQOL evaluation using a standardised questionnaire can ensure better chronic disease management. This is particularly important when providing individualised care for adolescents, as they become increasingly responsible for managing their diabetes.


Assuntos
Diabetes Mellitus Tipo 1/tratamento farmacológico , Diabetes Mellitus Tipo 1/psicologia , Insulina/administração & dosagem , Preferência do Paciente , Qualidade de Vida , Adolescente , Criança , Diabetes Mellitus Tipo 1/epidemiologia , Feminino , Nível de Saúde , Humanos , Infusões Subcutâneas , Sistemas de Infusão de Insulina , Masculino , Preferência do Paciente/estatística & dados numéricos , Reprodutibilidade dos Testes , Inquéritos e Questionários
7.
Nutr Metab Cardiovasc Dis ; 23(11): 1134-40, 2013 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-23220075

RESUMO

BACKGROUND AND AIMS: Prader-Willi syndrome (PWS), the most common genetic cause of obesity, is characterized by elevated morbility and mortality in all ages. In this context, non-obese PWS children showed low frequency of metabolic syndrome (MetS), while a comparable prevalence was observed in obese PWS and obese controls. Aim of this study was to estimate the occurrence of MetS and its components in a large group of PWS adults, according to obesity status. METHODS AND RESULTS: A cross-sectional study was performed in 108 PWS aged 18.0-43.2 years (87 obese and 21 non-obese) and in 85 controls with nonsyndromic obesity matched for age, gender, and BMI with obese PWS. Non-obese PWS showed lower waist circumference, insulin, HOMA-index, triglycerides, diastolic blood pressure, and higher HDL-C than both obese PWS and obese controls (p < 0.017). Obese PWS showed higher glucose and systolic blood pressure than both non-obese PWS and obese controls (p < 0.017). MetS was found in 1/21 (4.8%) non-obese PWS, 36/87 (41.4%) obese PWS and 39/85 (45.9%) obese controls. Non-obese PWS showed lower frequency for each MetS component as compared with obese PWS and obese controls. PWS patients with deletion of the chromosome 15q11-13 showed a lower risk for low HDL-C (p < 0.01) and a trend towards a lower MetS risk (p < 0.06) compared to subjects without deletion. CONCLUSION: Our findings suggest the main role that obesity status plays on the individual metabolic risk clustering in PWS adults. Early identification of MetS could be helpful to improve morbidity and prevent mortality in such patients.


Assuntos
Síndrome Metabólica/complicações , Síndrome de Prader-Willi/complicações , Adolescente , Adulto , Índice de Massa Corporal , Deleção Cromossômica , Cromossomos Humanos Par 15 , Estudos de Coortes , Estudos Transversais , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/epidemiologia , Humanos , Hipertensão/complicações , Hipertensão/epidemiologia , Itália/epidemiologia , Masculino , Análise por Pareamento , Síndrome Metabólica/epidemiologia , Obesidade/complicações , Síndrome de Prader-Willi/genética , Prevalência , Risco , Translocação Genética , Dissomia Uniparental , Adulto Jovem
9.
Nutr Metab Cardiovasc Dis ; 21(4): 269-76, 2011 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-20089384

RESUMO

BACKGROUND AND AIMS: Prader-Willi syndrome (PWS), the most frequent syndromic obesity, is associated with elevated morbidity and mortality in pediatric and adult ages. In PWS, the presence of metabolic syndrome (MS) has not yet been established. The aim of the study was to estimate the frequency of MS and its components in pediatric subjects according to obesity status. METHODS AND RESULTS: A cross-sectional study was performed in 109 PWS children aged 2-18 years (50 obese and 59 non-obese) and in 96 simple obese controls matched for age, gender, and also for BMI with obese PWS. Obesity was defined when SDS-BMI was >2. Non-obese PWS showed significantly lower frequency of hypertension (12%) than obese PWS (32%) and obese controls (35%)(p=0.003). The same was observed for low HDL-cholesterol (3% vs 18% and 24%, p=0.001) and high triglycerides (7% vs 23% and 16%, p=0.026). Frequency of altered glucose metabolism was not different among groups (2% vs 10% and 5%), but type 2 diabetes (four cases) was present only in obese PWS. Non-obese PWS showed lower insulin and HOMA-index respect to obese PWS and obese controls (p ≤ 0.017). Overall MS frequency in PWS was 7.3%. None of the non-obese PWS showed MS compared with 16% of obese PWS and controls (p<0.001). When obesity was excluded from the analysis, a significantly lower frequency for clustering of ≥ 2 factors was still found in non-obese PWS (p=0.035). CONCLUSION: Non-obese PWS showed low frequency of MS and its components, while that observed in obese PWS was very close to those of obese controls, suggesting the crucial role of obesity status. Prevention of obesity onset remains the most important goal of PWS treatment. Early identification of MS could be helpful to improve morbidity and mortality in such patients.


Assuntos
Síndrome Metabólica/epidemiologia , Síndrome Metabólica/etiologia , Obesidade/complicações , Síndrome de Prader-Willi/complicações , Adolescente , Índice de Massa Corporal , Criança , Pré-Escolar , HDL-Colesterol/sangue , Estudos Transversais , Diabetes Mellitus Tipo 2/etiologia , Feminino , Humanos , Hipertensão/etiologia , Hipertrigliceridemia/etiologia , Resistência à Insulina , Itália/epidemiologia , Masculino , Síndrome Metabólica/fisiopatologia , Síndrome de Prader-Willi/sangue , Prevalência , Fatores de Risco
10.
J Pediatr Endocrinol Metab ; 22(10): 883-93, 2009 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-20020576

RESUMO

Clinical criteria for the diagnosis of Prader-Willi Syndrome (PWS) were established by consensus in 1993 (Holm et al.). Specific molecular testing is now available and the purpose of diagnostic criteria has shifted to identify individuals to test, thus avoiding the expense of unnecessary analysis. The aim of this study was to find clinical indicators to select patients with suspected PWS for laboratory testing. We analyzed the prevalence of clinical signs and symptoms in 147 genetically diagnosed Italian patients with PWS (67 males and 80 females), aged from 9 months to 34.6 years (13.6 +/- 8.3 years), using the consensus diagnostic criteria, and according to age, sex and type of genetic abnormality. The prevalence of several clinical features changed significantly with age, but very few with sex. According to genetic subtypes (deletion vs UPD), only hypopigmentation and acromicria were more frequent in patients with deletion. Some criteria considered as minor or supportive by Holm et al. have higher prevalence than some major criteria. In conclusion, in order to identify patients with suspected PWS to submit to laboratory testing, we recommend a classification of clinical criteria according to age, giving more attention to those so-called minor or supportive criteria.


Assuntos
Síndrome de Prader-Willi/diagnóstico , Adolescente , Adulto , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Lactente , Itália/epidemiologia , Masculino , Síndrome de Prader-Willi/classificação , Síndrome de Prader-Willi/genética , Prevalência
11.
J Pediatr Gastroenterol Nutr ; 49(5): 566-70, 2009 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-19820412

RESUMO

AIM: : The aim of this study was to correlate the data obtained with multiple intraluminal esophageal impedance and pH (MII-pH) recordings in infants and children referred for suspected gastroesophageal reflux disease with esophageal histology. MATERIALS AND METHODS: : In a prospective study, results of esophageal biopsies and MII-pH recording obtained in 45 children (mean age +/- SD: 69 +/- 55 months) were analyzed. Regarding the MII-pH data, an automatic (Autoscan Bioview Analysis Software, version 5.3.4, Sandhill Scientific Inc, Highlands Ranch, CO) and a manual reading were performed; an automatic pH analysis (meal included) was also performed. RESULTS: : Acidic, weakly acidic, and alkaline reflux episodes accounted, respectively, for 48.7%, 49.5%, and 1.8% of the total number of reflux episodes detected by MII-pH. Esophagitis was present in 25 (56%) children. Concordance between classic pH-study analysis (alone) and esophageal histology was found in 19 of 45 (42%) children. According to the MII-pH analysis, the mean and median value of the pH were significantly higher in the group with esophagitis than in the group with normal esophageal histology. A longer clearance time was found in the group with esophagitis than in subjects with normal histology. Gas reflux episodes represented 21% of the total reflux episodes and were comparable in both groups. CONCLUSIONS: : Multiple intraluminal esophageal impedance and pH analysis does not provide a distinct parameter to predict esophageal mucosal injury in children. In our population, MII-pH shows comparable acidic, weakly acidic, alkaline, and gas reflux in children with and without esophagitis. Further research is needed to analyze clearance parameters.


Assuntos
Monitoramento do pH Esofágico , Esofagite/fisiopatologia , Esôfago/patologia , Refluxo Gastroesofágico/complicações , Biópsia , Estudos de Casos e Controles , Criança , Pré-Escolar , Impedância Elétrica , Eructação , Esofagite/epidemiologia , Esofagite/etiologia , Esôfago/fisiopatologia , Feminino , Humanos , Concentração de Íons de Hidrogênio , Masculino , Estudos Prospectivos , Valores de Referência
12.
J Endocrinol Invest ; 32(7): 601-5, 2009 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-19498323

RESUMO

AIMS: The aim of this study was to establish whether short-term GH treatment causes obstructive apnea in patients with Prader-Willi syndrome and normal upper airway patency. SUBJECTS AND METHODS: We performed an observational longitudinal 6-week GH treatment study. Thirty-four non-severely obese Prader-Willi syndrome patients (20 boys, age range 0.94-11.8 yr, median 2.24 yr) entered an observational longitudinal 6-week study. Sixteen boys received recombinant human GH (rhGH) treatment; the remaining 18 represented the control group and received no treatment. Polysomnography monitoring and othorhinolaringoiatric video endoscopy were performed one night before and after 6 weeks of rhGH treatment (0.03 mg/kg body weight/day). All patients underwent auxologic assessment, fasting blood glucose, insulin and IGF-I evaluation. The main polysomnographic parameter considered was total apnea hypopnea index, consisting of two components: central apnea hypopnea index and obstructive apnea hypopnea index. All patients were free of severe or moderate upper airway obstruction when rhGH treatment began. RESULTS: After 6 weeks of rhGH therapy, obstructive apnea hypopnea index increased in 8/16 (50%), decreased in 5/16 (31%), and did not change in 3/16 (19%) patients. The changes were not statistically significant. The rhGH-treated group did not differ from the control group for the apnea hypopnea index both before and after 6 weeks of treatment. Adenoids and tonsils showed a slight increase in 1 and 2 patients on rhGH treatment, respectively, and did not change in the untreated patients. CONCLUSIONS: Our data show that short-term rhGH treatment does not cause restrictions of the upper airways in patients with Prader-Willi syndrome and normal upper airway patency.


Assuntos
Hormônio do Crescimento Humano/uso terapêutico , Obesidade/complicações , Síndrome de Prader-Willi , Proteínas Recombinantes/uso terapêutico , Apneia Obstrutiva do Sono , Traqueia/efeitos dos fármacos , Antropometria , Glicemia/metabolismo , Composição Corporal , Índice de Massa Corporal , Criança , Pré-Escolar , Humanos , Lactente , Insulina/sangue , Resistência à Insulina/fisiologia , Masculino , Polissonografia , Síndrome de Prader-Willi/tratamento farmacológico , Síndrome de Prader-Willi/fisiopatologia , Apneia Obstrutiva do Sono/etiologia , Apneia Obstrutiva do Sono/fisiopatologia , Apneia Obstrutiva do Sono/terapia , Traqueia/patologia
13.
J Pediatr Gastroenterol Nutr ; 42(4): 392-7, 2006 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-16641577

RESUMO

PURPOSE: Scintigraphy is considered as the "gold standard" for measuring gastric emptying (GE). The C-acetate breath test (C-ABT) offers an attractive alternative to measure GE of liquids as it is nonradioactive. The aim of this study was to assess the variability of the C-ABT for GE of liquids in healthy children using nondispersive infrared spectrometry (NDIRS). METHODS: The C-ABT was repeated at least 2 times in 21 healthy children (6 girls and 15 boys), aged between 6.2 and 16.4 years, 2 to 7 days apart. After an overnight fast, a standardized milk drink, labeled with 50 or 100 mg C-acetate according to weight, was administered. Breath samples were taken before feeding, at 5-minute intervals for the first 40 minutes and at 10-minute intervals for the following 140 minutes after feeding. Breath samples were analyzed using NDIRS, and C recovery was used to calculate values for gastric half-emptying time (t1/2), time of peak C exhalation, or gastric lag phase (tlag) and gastric emptying coefficient (GEC). Intraindividual variabilities of the parameters t1/2, tlag, and GEC were expressed as coefficient of intrasubject variation (CV). RESULTS: The median CV of t1/2 was 8.3% (CV range, 1.6%-16.2%; t1/2 interindividual range, 65-112 minutes; and t1/2 intraindividual range, 4-33 minutes). The median CV of tlag was 16.6% (CV range, 2.0%-26.6%; tlag interindividual range, 31-76 minutes; and tlag intraindividual range, 1-35 minutes). The median CV of GEC was 4.3% (CV range, 0.8%-15.7%; GEC interindividual range, 3.81-4.89; GEC intraindividual range, 0.08-1.31). The CVs of t1/2, tlag, and GEC were independent of age, sex, weight, height, and measured values of t1/2, tlag, and GEC. CONCLUSIONS: The C-ABT using NDIRS is an easy, noninvasive, and nonradioactive procedure with a large intraindividual variation for measuring GE of liquids in healthy children, but comparable to the variation reported with other techniques.


Assuntos
Testes Respiratórios/métodos , Esvaziamento Gástrico , Espectrofotometria Infravermelho/métodos , Espectrofotometria Infravermelho/normas , Adolescente , Peso Corporal/fisiologia , Isótopos de Carbono/análise , Criança , Relação Dose-Resposta a Droga , Feminino , Humanos , Masculino , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
14.
Aliment Pharmacol Ther ; 23(9): 1315-9, 2006 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-16629936

RESUMO

AIM: To assess the intra-individual variability of the 13C-octanoic acid breath test using non-dispersive infrared spectrometry for gastric emptying of solids in healthy children. METHODS: A 13C-octanoic acid breath test was performed at least two times in 19 healthy children (age 12.4 +/- 2.7 years) 2-7 days apart to measure gastric emptying of solids. Breath samples were taken before eating a 13C-octanoic acid-labelled pancake and at 15-min intervals for the following 240 min. Breath samples were analysed using non-dispersive infrared spectrometry; 13C-recovery was used to calculate values for gastric half-emptying time (t(1/2)), gastric lag phase (t(lag)) and gastric emptying coefficient. Intra-individual variability of the parameters t(1/2), t(lag) and gastric emptying coefficient were expressed as coefficient of intrasubject variation. RESULTS: The mean coefficient of intrasubject variation of t(1/2) was 13.3 +/- 7.9% (range 2.5-29.6%; interindividual range 99-204 min; intra-individual range 5-84 min for t(1/2)). The mean coefficient of intrasubject variation of t(lag) was 13.6 +/- 7.5% (range 0.8-27.8%) (interindividual range 65-146 min; intra-individual range 1-50 min for t(lag)). The mean coefficient of intrasubject variation of gastric emptying coefficient was 12.5 +/- 6.8% (range 3.4-30.2%; interindividual range 2.3-3.9; intra-individual range 0.17-1.4 for gastric emptying coefficient). The coefficient of intrasubject variations of t(1/2), t(lag) and gastric emptying coefficient were independent of the values of t(1/2), t(lag) and gastric emptying coefficient. CONCLUSIONS: Gastric emptying in healthy children is characterized by a large inter- and intra-individual variability and is concordant with the results obtained with other techniques.


Assuntos
Caprilatos/análise , Esvaziamento Gástrico/fisiologia , Adolescente , Testes Respiratórios , Criança , Feminino , Humanos , Masculino , Espectrofotometria Infravermelho/métodos
15.
Minerva Pediatr ; 55(5): 471-82, 2003 Oct.
Artigo em Italiano | MEDLINE | ID: mdl-14608270

RESUMO

This article provides current guidelines on the treatment and prevention of childhood obesity. Since factors involved in obesity change with age, the therapeutic approach in pre-school children will be different from pupils and adolescents. The treatment will also be modulated on the basis of weight excess, weight gain velocity and complications. The main goal of the treatment should be to encourage the child and his family to have healthy lifestyle. Families who are not ready for change might benefit from counselling to improve motivation before starting treatment. A detailed alimentary and behavioural history is the start point of the treatment. The strategy of the intervention is to induce changes at three levels: 1) attitudes of parents; 2) physical activity; 3) energy intake. The treatment of the adolescents should take into account the pubertal changes and the psychological aspects of this peculiar period of life. Obesity is a chronic disease and its treatment needs long-life follow-up. The long-term results of the obesity treatment are often disappointing and we have to consider consistent prevention programs for better results.


Assuntos
Obesidade/terapia , Adolescente , Adulto , Fatores Etários , Depressores do Apetite/uso terapêutico , Terapia Comportamental , Índice de Massa Corporal , Criança , Pré-Escolar , Aconselhamento , Dexfenfluramina/uso terapêutico , Dieta , Ingestão de Energia , Exercício Físico , Família , Feminino , Hormônio do Crescimento Humano/uso terapêutico , Humanos , Estilo de Vida , Masculino , Motivação , Obesidade/tratamento farmacológico , Obesidade/prevenção & controle , Obesidade/cirurgia , Gravidez , Complicações na Gravidez/terapia , Puberdade , Agonistas do Receptor de Serotonina/uso terapêutico , Fatores Sexuais
16.
Eur J Pediatr ; 162(5): 327-33, 2003 May.
Artigo em Inglês | MEDLINE | ID: mdl-12692714

RESUMO

UNLABELLED: Genital abnormalities and disorders of pubertal development such as hypogonadism are common in Prader-Willi Syndrome (PWS). Depending on age, PWS patients present genital hypoplasia and delayed or incomplete gonadal maturation. Nevertheless, only a few evaluations have been made of these findings in this syndrome; in the cases previously reported the diagnosis of PWS has often been based only on clinical criteria and not confirmed by genetic analysis. In this paper we describe both external genital findings and spontaneous pubertal development in 84 patients aged from 2.1 to 35.4 (42 males, 42 females) affected by PWS. Diagnosis was made using the Holm and Cassidy criteria and was confirmed by genetic analysis (methylation test and/or FISH). We evaluated the presence of cryptorchidism, scrotal development, length of penis and volume of testis in males and outlook of labia minora and/or clitoris, age of menarche and features of menses (when present) in females; in both sexes we also evaluated the onset of puberty. All recruited males showed cryptorchidism, which was bilateral in 36 out of 42 patients (86%); 38 patients (90%) underwent orchidopexy. Small testes and scrotal hypoplasia were present in 76% and 69% of cases, respectively. In 76% of females, hypoplasia or absence of labia minora and/or clitoris was described. Spontaneous menarche occurred only in 14/32 cases (44%) over the age of 15 years, but menstrual cycles were often a periodical vaginal spotting. Primary amenorrhea was diagnosed in 56% of cases. Isolated premature pubarche was present in six males and in six females (14% of cases) while one male and two females were affected by precocious puberty (3.6%). CONCLUSION: Hypogonadism represents a common clinical feature in PWS, confirming the importance of such a major diagnostic criterion. Cryptorchidism was consistently present in all our cases. Patients with PWS commonly fail to spontaneously complete puberty, although some patients may have early pubarche or, more rarely, precocious puberty. In older subjects, hormonal replacement therapy is not always necessary and it must be reserved for selected patients.


Assuntos
Hipogonadismo/etiologia , Síndrome de Prader-Willi/fisiopatologia , Maturidade Sexual , Adolescente , Adulto , Criança , Pré-Escolar , Criptorquidismo/etiologia , Feminino , Terapia de Reposição Hormonal , Humanos , Masculino
17.
J Pediatr Endocrinol Metab ; 14 Suppl 2: 1009-14, 2001 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-11529397

RESUMO

The overview in this paper focuses on ways of achieving optimal auxological results in puberty, principally in idiopathic and congenital multiple pituitary hormone deficiency (MPHD), suggested by the co-authors. We agreed that diagnosing gonadotrophin insufficiency/deficiency is difficult in young children and should be repeated in late prepuberty, but a firm diagnosis of MPHD helps avoid endocrine re-testing at the end of growth. The hypothalamic-pituitary axis must be reassessed periodically in evolving endocrinopathies, though current practice varies widely. Optimum age to induce puberty is 11-12 years in girls and 13-14 boys, and sex steroids are the preferred agents. Short-course testosterone to increase micropenis size is advantageous, but inducing early testicular maturation is not known to improve later fertility. There is also little evidence for increasing the dose of GH during puberty, though therapy should continue to final height, and possibly until peak bone mass is achieved. Delaying puberty is an option in septo-optic dysplasia, and minimising the dose of hydrocortisone is crucial in treating ACTH/cortisol insufficiency. Many unresolved questions remain in this difficult area.


Assuntos
Transtornos do Crescimento/tratamento farmacológico , Transtornos do Crescimento/etiologia , Hormônio do Crescimento/uso terapêutico , Hormônios Hipofisários/deficiência , Puberdade/fisiologia , Adolescente , Criança , Feminino , Humanos , Masculino , Puberdade/efeitos dos fármacos
18.
J Pediatr Endocrinol Metab ; 14 Suppl 2: 959-65, 2001 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-11529402

RESUMO

Turner syndrome (TS) is the most common sex-chromosome abnormality in females. Short stature and hypogonadism are the classical clinical findings. The spontaneous final height (FH) ranges between 139 and 147 cm, representing a growth deficit of about 20 cm with respect to the unaffected population. GH therapy improves FH and should be started during childhood at a high dose of about 1 IU/kg/week (range 0.6-2 IU/kg/week). Some authors advocate combined therapy with an anabolic steroid at various doses (e.g. oxandrolone 0.05-0.1 mg/kg/day). This treatment results in a significantly increased FH, a large proportion of treated girls reaching a FH of more than 150 cm. Gonadal function is compromised during adolescence in about 80% of girls with TS, whilst in about 20% pubertal development occurs spontaneously. Oestrogen therapy should be started at the age of 13-14 years in hypogonadic patients; early onset of treatment (before 12 years) seems to compromise FH. Other concerns in these patients are fertility and osteopenia.


Assuntos
Transtornos do Crescimento/terapia , Puberdade/fisiologia , Síndrome de Turner/tratamento farmacológico , Adolescente , Criança , Feminino , Hormônios Esteroides Gonadais/administração & dosagem , Hormônios Esteroides Gonadais/uso terapêutico , Transtornos do Crescimento/etiologia , Hormônio do Crescimento/administração & dosagem , Hormônio do Crescimento/uso terapêutico , Humanos , Masculino , Puberdade/efeitos dos fármacos
19.
Ann Allergy Asthma Immunol ; 85(3): 221-6, 2000 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-11030277

RESUMO

BACKGROUND: Prolonged treatment with inhaled steroids is recommended for long-term control of asthma in children; however, it can interfere with growth and body composition. OBJECTIVE: The aim of this study is to answer the question whether 6 months treatment with inhaled steroids causes body fat accumulation and growth velocity reduction. METHODS: Hospital-based, open study of body composition [by dual-energy X-ray absorptiometry (DXA), bioelectrical impedance analysis (BIA) and skinfolds] and growth of 26 asthmatic children, treated for 6 months with inhaled steroids [budesonide (BUD) 400 microg/day (group 1) or fluticasone proprionate (FP) 200 microg/day (group 2)], sodium cromoglycate and beta2-agonist (salbutamol) compared with a control group of 16 asthmatic children treated only with sodium cromoglycate and beta2-agonist. RESULTS: On average, total and regional fat mass, adjusted for pubertal stage and gender, and growth velocity were similar in all three groups of patients and were not influenced by treatment (% mean change +/- 1 SD of fat mass during treatment in BUD 0.1 +/- 3.0%, FP -1.1 +/- 3%, and control -2.8 +/- 3.5%; ANOVA P > or = .05); however seven patients, two in group 1 (1 preschool child), three in group 2 (2 preschool children) and two in the control group (two prepubertal boys aged 8.5 and 9.5 year), during treatment, showed a growth velocity standard deviation score below the third percentile. CONCLUSION: A 6-month treatment with inhaled BUD and FP does not induce body fat accumulation; however, in a few preschool children the treatment was associated with growth velocity below the third percentile. Our results suggest the need for constant monitoring of growth in all asthmatic children on chronic treatment with inhaled steroids. Further studies devoted to the effects of inhaled steroids use in preschool children are needed.


Assuntos
Asma/tratamento farmacológico , Asma/fisiopatologia , Composição Corporal/efeitos dos fármacos , Composição Corporal/fisiologia , Budesonida/administração & dosagem , Crescimento/efeitos dos fármacos , Administração por Inalação , Administração Tópica , Adolescente , Agonistas Adrenérgicos beta/uso terapêutico , Androstadienos/uso terapêutico , Antropometria , Anti-Inflamatórios/administração & dosagem , Criança , Pré-Escolar , Cromolina Sódica/uso terapêutico , Feminino , Fluticasona , Glucocorticoides , Humanos , Masculino , Dobras Cutâneas
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