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1.
Growth Horm IGF Res ; 48-49: 9-15, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31487604

RESUMO

Pediatric patients with Prader-Willi syndrome (PWS) can be treated with recombinant human GH (rhGH). These patients are highly sensitive to rhGH and the standard doses suggested by the international guidelines often result in IGF-1 above the normal range. We aimed to evaluate 1 the proper rhGH dose to optimize auxological outcomes and to avoid potential overtreatment, and 2 which patients are more sensitive to rhGH. In this multicenter real-life study, we recruited 215 patients with PWS older than 1 year, on rhGH at least for 6 months, from Italian Centers for PWS care. We collected auxological parameters, rhGH dose, IGF-1 at recruitment and (when available) at start of treatment. The rhGH dose was 4.3 (0.7/8.4) mg/m2/week. At recruitment, IGF-1 was normal in 72.1% and elevated in 27.9% of the patients. In the group of 115 patients with IGF-1 available at start of rhGH, normal pretreatment IGF-1 and uniparental disomy were associated with elevated IGF-1 during the therapy. No difference in height and growth velocity was found between patients treated with the highest and the lowest range dose. The rhGH dose prescribed in Italy seems lower than the recommended one. Normal pretreatment IGF-1 and uniparental disomy are risk factors for elevated IGF-1. The latter seems to be associated with higher sensitivity to GH. In case of these risk factors, we recommend a more accurate titration of the dose to avoid overtreatment and its potential side effects.

2.
J Pediatr Neurosci ; 14(1): 38-41, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31316642

RESUMO

Chronic inflammatory demyelinating polyneuropathy (CIDP) is a chronically progressive or relapsing sensorimotor disorder presumably due to antibody-mediated reactions. It is a rare condition in children, with estimated prevalence as 0.48 per 100,000 among patients younger than 20 years of age. Recommended treatments include immune modulators, intravenous immunoglobulins (IVIgs), steroids, and plasmapheresis. Management of pediatric CIDP is challenging because of the lack of evidence-based efficacy of the current therapies in children. Because of the rarity of this condition, there are no double-blind randomized studies to support the therapeutic choice as well as to identify the optimal first-line therapeutic regimen. IVIgs are widely used but the intravenous administration is usually uncomfortable, especially for children. Subcutaneous immunoglobulins (SCIgs) have proven to be effective in adults with CIDP and in children affected by antibody deficiencies and other different immune and inflammatory disorders. Herein, we described the case of a 7-year-old boy, affected by CIDP who clinically responded to IVIg but was dependent on this therapy. In order to improve his quality of life, we switched to SCIg with excellent result.

3.
Am J Med Genet A ; 179(10): 2067-2074, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31361394

RESUMO

This is a retrospective multicenter nationwide Italian study collecting neonatal anthropometric data of Caucasian subjects with Prader-Willi syndrome (PWS) born from 1988 to 2018. The aim of the study is to provide percentile charts for weight and length of singletons with PWS born between 36 and 42 gestational weeks. We collected the birth weight and birth length of 252 male and 244 female singleton live born infants with both parents of Italian origin and PWS genetically confirmed. Percentile smoothed curves of birth weight and length for gestational age were built through Cole's lambda, mu, sigma method. The data were compared to normal Italian standards. Newborns with PWS showed a lower mean birth weight, by 1/2 kg, and a shorter mean birth length, by 1 cm, than healthy neonates. Females with a 15q11-13 deletion were shorter than those with maternal uniparental maternal disomy of chromosome 15 (p < .0001). The present growth curves may be useful as further traits in supporting a suspicion of PWS in a newborn. Because impaired prenatal growth increases risk of health problems later in life, having neonatal anthropometric standards could be helpful to evaluate possible correlations between the presence or absence of small gestational age and some clinical and metabolic aspects of PWS.

4.
J Pediatr Endocrinol Metab ; 32(2): 159-165, 2019 Feb 25.
Artigo em Inglês | MEDLINE | ID: mdl-30703060

RESUMO

Background Prader-Willi syndrome (PWS) is a genetic disorder due to loss of expression of paternally transcribed genes of the imprinted region of chromosome 15q11-13. PWS is characterized by peculiar signs and symptoms and many endocrine abnormalities have been described (growth hormone deficiency, hypogonadotropic hypogonadism). The abnormalities of thyroid function are discussed in literature and published data are discordant. The aim of our study was to report the thyroid function in patients with PWS to identify the prevalence of thyroid dysfunction. Methods Thyroid function tests were carried out in 339 patients with PWS, aged from 0.2 to 50 years. A database was created to collect personal data, anthropometric data, thyroid function data and possible replacement therapy with L-thyroxine. Subjects were classified according to thyroid function as: euthyroidism (EuT), congenital hypothyroidism (C-HT), hypothyroidism (HT - high thyroid-stimulating hormone [TSH] and low free thyroxine [fT4]), central hypothyroidism (CE-H - low/normal TSH and low fT4), subclinical hypothyroidism (SH - high TSH and normal fT4), and hyperthyroidism (HyperT - low TSH and high fT4). Results Two hundred and forty-three out of 339 PWS patients were younger than 18 years (71.7%). The prevalence of thyroid dysfunction was 13.6%. Specifically, C-HT was found in four children (1.18%), HT in six patients (1.77%), CE-H in 23 patients (6.78%), SH in 13 patients (3.83%), and HyperT in none. All other subjects were in EuT (86.4%). Conclusions Hypothyroidism is a frequent feature in subjects with PWS. Thyroid function should be regularly investigated in all PWS patients both at the diagnosis and annually during follow-up.


Assuntos
Biomarcadores/sangue , Hipotireoidismo/diagnóstico , Síndrome de Prader-Willi/complicações , Hormônios Tireóideos/sangue , Adolescente , Adulto , Criança , Pré-Escolar , Estudos Transversais , Feminino , Seguimentos , Humanos , Hipotireoidismo/sangue , Hipotireoidismo/etiologia , Lactente , Masculino , Pessoa de Meia-Idade , Síndrome de Prader-Willi/fisiopatologia , Prognóstico , Testes de Função Tireóidea , Adulto Jovem
5.
Pediatr Gastroenterol Hepatol Nutr ; 21(4): 278-288, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30345241

RESUMO

Purpose: Dehydration is a paediatric medical emergency but there is no single standard parameter to evaluate it at the emergency department. Our aim was to evaluate the reliability and validity of capillary refilling time as a triage parameter to assess dehydration in children. Methods: This was a prospective pilot cohort study of children who presented to two paediatric emergency departments in Italy, with symptoms of dehydration. Reliability was assessed by comparing the triage nurse's measurements with those obtained by the physician. Validity was demonstrated by using 6 parameters suggestive of dehydration. Comparison between refilling time (RT) and a validated Clinical Dehydration Score (CDS) was also considered. The scale's discriminative ability was evaluated for the outcome of starting intravenous rehydration therapy by using a receiver operating characteristic (ROC) curve. Results: Participants were 242 children. All nurses found easy to elicit the RT after being trained. Interobserver reliability was fair, with a Cohen's kappa of 0.56 (95% confidence interval [CI], 0.41 to 0.70). There was a significant correlation between RT and weight loss percentage (r-squared=-0.27; 95% CI, -0.47 to -0.04). The scale's discriminative ability yielded an area under the ROC curve (AUC) of 0.65 (95% CI, 0.57 to 0.73). We found a similarity between RT AUC and CDS-scale AUC matching the two ROC curves. Conclusion: The study showed that RT represents a fast and handy tool to recognize dehydrated children who need a prompt rehydration and may be introduced in the triage line-up.

6.
Minerva Pediatr ; 2018 Oct 04.
Artigo em Inglês | MEDLINE | ID: mdl-30299025

RESUMO

BACKGROUND: An apparent life-threatening event (ALTE) describes an acute, unexpected change in an infant's breathing, aspect, or behavior frightening to the parent or caretaker. According to the new recent terminology, clinicians should use the term Brief Resolved Unexplained Event (BRUE) to describe an event occurring in an infant <1 year of age when the observer reports a sudden, brief, and now resolved episode. The aims of the present study in infants were: to investigate sleep disturbances in both ALTE event and after their classification according the new BRUE criteria. METHODS: We enrolled (from April to May 2016) 32 consecutive infants referred to our ambulatory for sleep disorders for follow-up after an ALTE episode and 32 pair healthy controls. We administered to parents the adapted questionnaire "Sleep Disturbance Scale for Children - SDSC". RESULTS: Among enrolled infants with ALTE, there were 26 infants in line with the new BRUE definition, of which 10 at low risk and 16 at the high-risk event. CONCLUSIONS: BRUE had more referred-by-parents' sleep symptoms than controls. In particular, sleep disordered breathing wa prevalent in both, requiring a longer follow-up for this disturbance.

7.
Paediatr Drugs ; 20(6): 575-583, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30182358

RESUMO

BACKGROUND: Guidelines are contradictory regarding the use of alginate in infants with persisting gastroesophageal reflux (GER). While The British National Institute for Health and Care (NICE) guidelines consider alginate as a treatment option, the guidelines of the European and North-American Societies for Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN, NASPGHAN) do not recommend alginates. AIMS: We assessed the efficacy of alginate to reduce GER episodes in infants. METHODS: In a prospective, observational study, we consecutively enrolled all infants referred for pH-multiple intraluminal impedance (pH-MII) recording because of persisting GER symptoms not responsive to behavior and dietetic modifications. A 48-h pH-MII was performed in all infants; a baseline recording was performed during the first 24 h while magnesium or sodium alginate was administered during the second 24 h. The primary endpoint was the difference in the total number of GER episodes per 24 h between the baseline day and the second day during which the alginate was administered. The secondary outcome was the difference in symptoms between each period. We also compared other pH-MII data from before and during alginate administration. RESULTS: We recruited 43 infants (median age 68 days, range 25-306); three pH-MII tracings were excluded because of artifacts. The median number of all MII reflux episodes was significantly reduced during alginate administration (76.0 vs 69.5; p < 0.001). Crying-fussiness, cough and regurgitation episodes all significantly improved during alginate administration (p = 0.00012; p = 0.005 and p = 0.04, respectively). The following MII parameters also decreased during the alginate administration: acid (19.0 vs 14.5; p < 0.04), non-acid (52.0 vs 49.5; p < 0.004), proximal GER episodes (46.0 vs 41.4; p < 0.007), and bolus exposure index (1.9 vs 1.6; p = 0.002). At least three out of seven pH-MII parameters decreased by > 10% during the alginate period in 31/40 infants (77.5%), without a significant difference between magnesium and sodium alginate. CONCLUSION: These results suggest that alginate significantly decreases the number and extension of both acid and non-acid reflux episodes and associated symptoms in infants.


Assuntos
Alginatos/efeitos adversos , Refluxo Gastroesofágico/tratamento farmacológico , Idoso , Alginatos/farmacologia , Alginatos/uso terapêutico , Estudos de Casos e Controles , Feminino , Humanos , Lactente , Masculino , Estudos Prospectivos
8.
J Crohns Colitis ; 12(7): 870-879, 2018 Jun 28.
Artigo em Inglês | MEDLINE | ID: mdl-29518184

RESUMO

Background and Aims: Ocular extraintestinal manifestations [O-EIMs] are known complications of Crohn's disease [CD], ulcerative colitis [UC], and inflammatory bowel disease unclassified [IBD-U]. However, data on their prevalence in children are scarce and there are no clear recommendations on what follow-up should be offered. We aimed to review available data on O-EIMs in children. Methods: In January 2018, we performed a systematic review of published English literature using PubMed and EMBASE databases and disease-specific queries. Results: Fifteen studies [7467 patients] reported data on O-EIMs prevalence in children. Overall prevalence of O-EIMs was 0.62-1.82%. Uveitis was the most common O-EIM. Meta-analysis showed that children with CD are at increased risk of O-EIMs as compared with children with UC and IBD-U (odds ratio [OR] 2.70, 95% confidence interval [CI] 1.51-4.83). Five studies [357 patients] reported data on ophthalmological screening in asymptomatic children: mild asymptomatic uveitis was identified in a variable proportion of patients [1.06-23.1%], more frequently in male patients with CD and colonic involvement. No evidence of ocular complications from untreated uveitis was detected. A total of 23 case reports [24 patients] were identified. Conclusions: Data on O-EIMs in children are scarce. Prevalence of O-EIMs is lower than in adults but may be underestimated because of the possibility of asymptomatic uveitis; however, the long-term significance of this condition is unknown. Children with CD may be at increased risk of O-EIMs. No recommendations on routine ophthalmological examination can be made, but a low threshold for ophthalmological referral should be maintained. Larger studies in paediatric IBD populations are needed.


Assuntos
Colite Ulcerativa/complicações , Doença de Crohn/complicações , Oftalmopatias/epidemiologia , Adolescente , Catarata/epidemiologia , Catarata/etiologia , Criança , Pré-Escolar , Oftalmopatias/etiologia , Humanos , Prevalência , Uveíte/epidemiologia , Uveíte/etiologia
9.
Pediatr Diabetes ; 19(5): 923-929, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-29569355

RESUMO

At the time of the clinical onset of type 1 diabetes (T1D), we investigated 82 pediatric cases in parallel with 117 non-diabetic controls matched by age, geographic area, and time of collection. The occurrence of an enteroviral infection was evaluated in peripheral blood using a sensitive method capable of detecting virtually all human enterovirus (EV) types. While non-diabetic controls were consistently EV-negative, 65% of T1D cases carried EVs in blood. The vitamin D status was assessed by measuring the concentration of 25-hydroxyvitamin D [25(OH)D] in serum. Levels of 25(OH)D were interpreted as deficiency (≤50 nmol/L), insufficiency (52.5-72.5 nmol/L), and sufficiency (75-250 nmol/L). In T1D cases, the median serum concentration of 25(OH)D was 54.4 ± 27.3 nmol/L vs 74.1 ± 28.5 nmol/L in controls (P = .0001). Diabetic children/adolescents showed deficient levels of vitamin D 25(OH)D (ie, 72.5 nmol/L) in 48.8% cases vs 17.9% in non-diabetic controls (P = .0001). Unexpectedly, the median vitamin D concentration was significantly reduced in virus-positive vs virus-negative diabetics (48.2 ± 22.5 vs 61.8 ± 31.2 nmol/L; P = .015), with deficient levels in 58.5% vs 31.0%, respectively. Thus, at the time of clinical onset, EV-positive cases had reduced vitamin D levels compared with EV-negative cases. This could indicate either that the virus-negative children/adolescents had been hit by a non-infectious T1D-triggering event, or that children/adolescents with proper levels of vitamin D had been able to rapidly clear the virus. Thus, it would be important to assess whether adequate vitamin D supplementation before or during the prediabetic phase of T1D may counteract the diabetogenic potential of infectious pathogens.


Assuntos
Diabetes Mellitus Tipo 1/epidemiologia , Infecções por Enterovirus/complicações , Deficiência de Vitamina D/complicações , Adolescente , Estudos de Casos e Controles , Criança , Pré-Escolar , Diabetes Mellitus Tipo 1/virologia , Feminino , Humanos , Itália/epidemiologia , Masculino
10.
Pediatr Hematol Oncol ; 34(5): 343-347, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29200317

RESUMO

Gastrointestinal stromal tumors (GIST) are tumors of the gastrointestinal (GI) tract originating from the myenteric ganglion cells (interstitial cells of Cajal), that are very rare in children and adolescents. The most common clinical manifestation is acute or chronic, overt or occult GI bleeding although these tumors are asymptomatic in 10-30% of patients. We report a case of gastric GIST in a 11-year-old girl presenting with an iron deficiency refractory anemia without gastrointestinal symptoms and stool evidence of GI bleeding that caused a slight diagnostic delay.


Assuntos
Anemia Ferropriva/diagnóstico , Hemorragia Gastrointestinal/diagnóstico , Neoplasias Gastrointestinais/diagnóstico , Criança , Feminino , Humanos
11.
Sci Rep ; 7(1): 5013, 2017 07 10.
Artigo em Inglês | MEDLINE | ID: mdl-28694527

RESUMO

Enteroviruses (EVs) causing persisting infection are characterized by minimal replication and genetic changes. Typing of these agents may complement disease assessment and shed light on pathogenesis. Here we report an integrated approach for EV detection in human samples that is based on pre-enrichment of virus in cell culture before search for the viral genome and viral antigens. Cases of post-polio syndrome, type 1 diabetes, and chronic cardiomyopathy were investigated. As tissue-based approaches require invasive procedures, information was mainly gleaned from virus in blood. Molecular assays targeting conserved genome regions of all EV types (5'UTR, 2 C, 3Dpol) were employed. As compared to direct assays of plasma or leukocytes, the EV detection rate was significantly enhanced by co-culture of leukocytes with cell lines prior to molecular and immunologic tests. Results of RT-PCR and sequencing were confirmed by staining cell cultures with a panel of EV-specific antibodies. Sequence and phylogenetic analysis showed that EVs of the C species (polioviruses) were associated with the post-polio syndrome, while members of the B species were found in type 1 diabetes and cardiomyopathy. The procedure may be used for investigating the possible association of different EVs with a variety of chronic neurologic, endocrine, and cardiac disorders.


Assuntos
Cardiomiopatias/virologia , Diabetes Mellitus Tipo 1/virologia , Infecções por Enterovirus/diagnóstico , Enterovirus/classificação , Síndrome Pós-Poliomielite/virologia , Adolescente , Adulto , Idoso , Cardiomiopatias/sangue , Linhagem Celular , Criança , Pré-Escolar , Técnicas de Cocultura , Diabetes Mellitus Tipo 1/sangue , Enterovirus/crescimento & desenvolvimento , Enterovirus/imunologia , Enterovirus/isolamento & purificação , Infecções por Enterovirus/sangue , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Filogenia , Síndrome Pós-Poliomielite/sangue , RNA Viral/genética , Análise de Sequência de RNA , Cultura de Vírus , Adulto Jovem
12.
Acta Diabetol ; 54(10): 889-894, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28639064

RESUMO

AIMS: Low HDL cholesterol (HDL-C) levels have been described in patients with coexisting type 1 diabetes mellitus (T1DM) and celiac disease (CD). Data on other possible lipid abnormalities that could further increase cardiovascular risk in these patients are scarce and incomplete. Aim of this retrospective multicenter study was to evaluate whole lipid profiles, besides HDL-C, in children with T1DM associated with biopsy-proven CD, and to investigate the influence of age and degree of adherence to gluten-free diet (GFD) on lipid changes. METHODS: A total of 261 children with both T1DM and CD were enrolled. Serum lipid profiles at CD diagnosis were compared with those after 1 year of GFD and with those of 224 matched children with T1DM alone. The adherence to GFD was judged by means of CD-related antibodies. RESULTS: At CD diagnosis, children with T1DM + CD showed higher LDL cholesterol (LDL-C) compared to children with T1DM alone. Gluten withdrawal failed to normalize LDL-C levels, not even in completely adherent individuals. HbA1c values were not influenced by GFD. The youngest children were characterized at diagnosis by lower levels of total cholesterol and on treatment by a greater decrease in triglycerides levels. CONCLUSIONS: An unfavorable lipid profile, characterized not only by low HDL-C levels but also by high LDL-C values, may increase the risk of cardiovascular disease in children with T1DM and untreated CD. Therefore, a strict gluten-free diet is mandatory in these children, especially the youngest.


Assuntos
Doença Celíaca/sangue , HDL-Colesterol/sangue , Diabetes Mellitus Tipo 1/sangue , Lipídeos/sangue , Adolescente , Doença Celíaca/complicações , Criança , Pré-Escolar , LDL-Colesterol/sangue , Diabetes Mellitus Tipo 1/complicações , Dieta Livre de Glúten , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos , Fatores de Risco , Adulto Jovem
13.
Am J Epidemiol ; 185(4): 295-303, 2017 02 15.
Artigo em Inglês | MEDLINE | ID: mdl-28087513

RESUMO

In 2007 the International Diabetes Federation (IDF) proposed single blood pressure (BP) cutpoints (systolic: ≥130 mm Hg and diastolic: ≥85 mm Hg) for the diagnosis of high blood pressure (HBP) in adolescents. Before this proposal, HBP had been defined as BP at or above the 95th percentile for age, sex, and height percentile (reference standard). In this study, we evaluated the risk for misclassification when using the IDF single-cutpoints criteria. We first applied the IDF criteria to a reconstructed population with the same age, sex, and height distribution as the population used to develop the reference standard. The proposed single cutpoints corresponded to percentiles from the 81.6th to 99.9th for systolic BP and from the 92.9th to 98.9th for diastolic BP in the reconstructed population. Using IDF criteria, there were high false-negative fractions for both systolic and diastolic BP (from 54% to 93%) in 10- to 12-year-olds and a false-positive fraction up to 35% in older subjects. We then applied the IDF criteria to 1,162 overweight/obese adolescents recruited during 1998-2000 from pediatric clinical centers in Milano, Varese, and Modena in Italy and in Zaragoza, Spain. Overall false-negative and false-positive fractions were 22% and 2%, respectively; negative predictive values were especially low for 10- to 12-year-old subjects. The use of IDF's single cutpoints carries a high risk of misclassification, mostly due to false negatives in younger subjects. The effort to simplify diagnosis could be overcome by the risk of undiagnosed HBP.


Assuntos
Determinação da Pressão Arterial/normas , Hipertensão/diagnóstico , Adolescente , Criança , Erros de Diagnóstico , Feminino , Humanos , Hipertensão/complicações , Masculino , Sobrepeso/complicações , Valor Preditivo dos Testes , Curva ROC , Valores de Referência
14.
Pediatr Diabetes ; 18(3): 241-248, 2017 05.
Artigo em Inglês | MEDLINE | ID: mdl-26990605

RESUMO

OBJECTIVE: To identify the role of the family's socio-economic and clinical characteristics on metabolic control in children and adolescents with type 1 diabetes. METHODS: In this cross-sectional, multicentre study, 768 subjects with type 1 diabetes under 18 years of age were consecutively recruited from January 2008 to February 2009. Target condition was considered for HbA1c values <7.5% (<58 mmol/mol). A multiple correspondence analysis (MCA) was performed to analyze the association between the socio-economic and clinical characteristics of the participants. A logistic regression analysis was performed to identify factors associated with the subjects metabolic control. In both analyses, the family's socio-economic status was represented, measured by the Hollingshead Four-Factor Index of Social Status (SES) or by parental years of education. RESULTS: A total of 28.1% of subjects reached target HbA1c values. The MCA identified a strong association between at-target condition and several factors: high levels of SES or high levels of parental education, the use of the carbohydrate counting system, the use of insulin pumps, the use of the insulin delivery system over a short period of time, a normal body mass index. The logistic regression analysis showed that SES and the mother's years of education were significantly associated with the target condition [odds ratio (OR): 1.01, 95% confidence interval (CI): 1.01-1.03, p = 0.029; OR: 1.05, 95% CI: 1.01-1.10, p = 0.027, respectively). CONCLUSIONS: Personal, clinical, and family characteristics were found to be associated with HbA1c target. Their identification can be crucial in addressing strategies to optimize metabolic control and improve diabetes management.


Assuntos
Diabetes Mellitus Tipo 1/tratamento farmacológico , Hiperglicemia/prevenção & controle , Hipoglicemia/prevenção & controle , Hipoglicemiantes/administração & dosagem , Sistemas de Infusão de Insulina , Insulina/administração & dosagem , Qualidade de Vida , Adolescente , Criança , Terapia Combinada/economia , Efeitos Psicossociais da Doença , Estudos Transversais , Diabetes Mellitus Tipo 1/sangue , Diabetes Mellitus Tipo 1/dietoterapia , Diabetes Mellitus Tipo 1/economia , Dieta para Diabéticos/economia , Escolaridade , Hemoglobina A Glicada/análise , Pesquisas sobre Serviços de Saúde , Humanos , Hipoglicemia/induzido quimicamente , Hipoglicemiantes/efeitos adversos , Hipoglicemiantes/economia , Hipoglicemiantes/uso terapêutico , Insulina/efeitos adversos , Insulina/economia , Insulina/uso terapêutico , Sistemas de Infusão de Insulina/efeitos adversos , Sistemas de Infusão de Insulina/economia , Itália , Mães/educação , Fatores Socioeconômicos
16.
J Diabetes Complications ; 30(1): 55-60, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26598223

RESUMO

AIMS: To investigate on the relationship between severity of ketoacidosis, an important risk factor for C-peptide preservation, and long-term microvascular complications in childhood-onset type 1 diabetes mellitus (T1DM). METHODS: 230 childhood-onset diabetic patients (177 pre-pubertal), aged 7.0±3.8years followed for at least 15years after their diagnosis, were enrolled. Clinical and laboratory data at diagnosis, and C-peptide levels in a subset of patients, were compared with the severity of retinopathy and nephropathy, after a mean of 19.6±3.8years of disease. Digital retinal photographs were taken in all patients, and centrally graded. Repeated measurements of HbA1c and microalbuminuria for the whole duration of diabetes were collected in over half of the cases. RESULTS: Out of 230 patients, those with the lowest age at diagnosis had the most severe DKA and clinical conditions (p<0.05), and lower C-peptide levels (p<0.0001) at diagnosis. There was a significant relationship between pH and clinical severity (r=-0.783, p<0.0001), and between pH and C-peptide levels (r=0.278, p<0.05). The severity of ketoacidosis had no relationship with subsequent lifetime HbA1c values and long-term microvascular complications. In logistic regression analysis, the only variables that independently influenced severity of retinopathy were lifetime HbA1c (B=0.838, p<0.001), duration of disease (B=0.208, p<0.005) and age at diagnosis (B=0.116, p<0.05). CONCLUSIONS: The degree of metabolic derangement at diagnosis is not associated with retinopathy and nephropathy in childhood-onset T1DM. Age at diagnosis seems to be an important variable to be considered when evaluating the long-term effects of residual beta-cell function.


Assuntos
Diabetes Mellitus Tipo 1/complicações , Cetoacidose Diabética/complicações , Nefropatias Diabéticas/complicações , Retinopatia Diabética/complicações , Insuficiência Renal/complicações , Idade de Início , Peptídeo C/sangue , Criança , Pré-Escolar , Estudos de Coortes , Estudos Transversais , Diabetes Mellitus Tipo 1/sangue , Diabetes Mellitus Tipo 1/fisiopatologia , Diabetes Mellitus Tipo 1/urina , Nefropatias Diabéticas/epidemiologia , Nefropatias Diabéticas/fisiopatologia , Retinopatia Diabética/epidemiologia , Retinopatia Diabética/fisiopatologia , Progressão da Doença , Feminino , Seguimentos , Hemoglobina A Glicada/análise , Humanos , Itália/epidemiologia , Masculino , Prevalência , Insuficiência Renal/epidemiologia , Insuficiência Renal/fisiopatologia , Estudos Retrospectivos , Fatores de Risco , Índice de Gravidade de Doença
17.
Expert Rev Endocrinol Metab ; 9(4): 369-375, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30763996

RESUMO

The main motivations of growth hormone (GH) treatment of Prader-Willi syndrome (PWS) are the stimulation of growth and lean muscle mass. Furthermore GH therapy in Prader-Willi children seems to favorably affect their behavior and mental performances. It is still a matter of discussion whether GH therapy in PWS should be considered responsible for specific adverse events. The most significant of them are scoliosis and breathing disorders, the latter considered being responsible for some deaths, reported in children with PWS, mainly at the beginning of GH therapy. Obstructive sleep apnea was occasionally reported also in patients treated with GH for several years. The review reports and discusses the latest data related to side effects of long-term GH treatment in children with PWS.

18.
J Clin Endocrinol Metab ; 98(9): E1516-23, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23894156

RESUMO

CONTEXT: Adenotonsillar tissue hypertrophy and obstructive sleep apnea have been reported during short-term GH treatment in children with Prader-Willi syndrome (PWS). OBJECTIVE: We conducted an observational study to evaluate the effects of long-term GH therapy on sleep-disordered breathing and adenotonsillar hypertrophy in children with PWS. DESIGN: This was a longitudinal observational study. PATIENTS AND METHODS: We evaluated 75 children with genetically confirmed PWS, of whom 50 fulfilled the criteria and were admitted to our study. The patients were evaluated before treatment (t0), after 6 weeks (t1), after 6 months (t2), after 12 months (t3), and yearly (t4-t6) thereafter, for up to 4 years of GH therapy. The central apnea index, obstructive apnea hypopnea index (OAHI), respiratory disturbance index, and minimal blood oxygen saturation were evaluated overnight using polysomnography. We evaluated the adenotonsillar size using a flexible fiberoptic endoscope. RESULTS: The percentage of patients with an OAHI of >1 increased from 3 to 22, 36, and 38 at t1, t4, and t6, respectively (χ(2) = 12.2; P < .05). We observed a decrease in the respiratory disturbance index from 1.4 (t0) to 0.8 (t3) (P < .05) and the central apnea index from 1.2 (t0) to 0.1 (t4) (P < .0001). We had to temporarily suspend treatment for 3 patients at t1, t4, and t5 because of severe obstructive sleep apnea. The percentage of patients with severe adenotonsillar hypertrophy was significantly higher at t4 and t5 than at t0. The OAHI directly correlated with the adenoid size (adjusted for age) (P < .01) but not with the tonsil size and IGF-1 levels. CONCLUSION: Long-term GH treatment in patients with PWS is safe; however, we recommend annual polysomnography and adenotonsillar evaluation.


Assuntos
Tonsila Faríngea/patologia , Terapia de Reposição Hormonal/efeitos adversos , Hormônio do Crescimento Humano/efeitos adversos , Tonsila Palatina/patologia , Síndrome de Prader-Willi/tratamento farmacológico , Apneia Obstrutiva do Sono/etiologia , Criança , Pré-Escolar , Feminino , Hormônio do Crescimento Humano/uso terapêutico , Humanos , Hipertrofia/induzido quimicamente , Lactente , Masculino , Polissonografia , Síndrome de Prader-Willi/complicações , Síndrome de Prader-Willi/patologia , Apneia Obstrutiva do Sono/patologia
19.
PLoS One ; 8(7): e68740, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23869231

RESUMO

Congenital hyperinsulinism of infancy (CHI) is a rare disorder characterized by severe hypoglycemia due to inappropriate insulin secretion. The genetic causes of CHI have been found in genes regulating insulin secretion from pancreatic ß-cells; recessive inactivating mutations in the ABCC8 and KCNJ11 genes represent the most common events. Despite the advances in understanding the molecular pathogenesis of CHI, specific genetic determinants in about 50 % of the CHI patients remain unknown, suggesting additional locus heterogeneity. In order to search for novel loci contributing to the pathogenesis of CHI, we combined a family-based association study, using the transmission disequilibrium test on 17 CHI patients lacking mutations in ABCC8/KCNJ11, with a whole-exome sequencing analysis performed on 10 probands. This strategy allowed the identification of the potential causative mutations in genes implicated in the regulation of insulin secretion such as transmembrane proteins (CACNA1A, KCNH6, KCNJ10, NOTCH2, RYR3, SCN8A, TRPV3, TRPC5), cytosolic (ACACB, CAMK2D, CDKAL1, GNAS, NOS2, PDE4C, PIK3R3) and mitochondrial enzymes (PC, SLC24A6), and in four genes (CSMD1, SLC37A3, SULF1, TLL1) suggested by TDT family-based association study. Moreover, the exome-sequencing approach resulted to be an efficient diagnostic tool for CHI, allowing the identification of mutations in three causative CHI genes (ABCC8, GLUD1, and HNF1A) in four out of 10 patients. Overall, the present study should be considered as a starting point to design further investigations: our results might indeed contribute to meta-analysis studies, aimed at the identification/confirmation of novel causative or modifier genes.


Assuntos
Hiperinsulinismo Congênito/genética , Exoma , Genoma Humano , Polimorfismo de Nucleotídeo Único , Feminino , Predisposição Genética para Doença , Técnicas de Genotipagem , Humanos , Insulina/metabolismo , Secreção de Insulina , Masculino
20.
Pediatr Diabetes ; 14(6): 407-16, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23763622

RESUMO

BACKGROUND: At the clinical onset of type 1 diabetes mellitus (T1D), enterovirus (EV) infections are suspected to play a role. EVs in blood are seen as a possible biomarker of T1D. EV infections may occur in temporal and geographic clusters and may spread within families. OBJECTIVE: We checked whether EVs were present in the blood of newly diagnosed diabetic probands and of their consenting siblings and parents. We aimed at evaluating the frequency of EV infection, whether infections were spreading within families, and which EV species were involved. SUBJECTS AND METHODS: Blood was drawn from 24 newly diagnosed diabetic children/adolescents and their family members (20 siblings and 41 parents). Blood donors and non-diabetic children/adolescents diagnosed with overweight/short stature were used as controls. RNA was extracted from plasma/leukocytes. Reverse-transcription polymerase chain reaction assays capable of detecting virtually all EV types and of giving preliminary species identification were used. RESULTS AND CONCLUSIONS: EV genomes were found in the blood of 19 of 24 (79%) diabetics, 12 of 20 (60%) non-diabetic siblings, 26 of 41 (63%) parents, and 1 of 29 (3%) pediatric controls. EVs of the A, B, C, and D species were detected, with the B and C species more prevalent. Probands and virus-positive members of each family consistently shared the same EV species. During follow-up, 4 of 20 (20%) siblings of diabetic probands developed T1D with a latency of 3-25 months. In conclusion, infection by different EV species is highly prevalent at the clinical onset and extends to family members. EV may represent a precipitating factor of T1D. However, the disease only develops in a subset of infected individuals.


Assuntos
Doenças Autoimunes/virologia , Diabetes Mellitus Tipo 1/virologia , Enterovirus Humano B/imunologia , Enterovirus Humano C/imunologia , Infecções por Enterovirus/transmissão , Saúde da Família , Adolescente , Doenças Autoimunes/sangue , Doenças Autoimunes/complicações , Doenças Autoimunes/imunologia , Criança , Estudos de Coortes , Diabetes Mellitus Tipo 1/sangue , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/imunologia , Enterovirus Humano A/classificação , Enterovirus Humano A/imunologia , Enterovirus Humano A/isolamento & purificação , Enterovirus Humano B/classificação , Enterovirus Humano B/isolamento & purificação , Enterovirus Humano C/classificação , Enterovirus Humano C/isolamento & purificação , Enterovirus Humano D/classificação , Enterovirus Humano D/imunologia , Enterovirus Humano D/isolamento & purificação , Infecções por Enterovirus/complicações , Infecções por Enterovirus/epidemiologia , Infecções por Enterovirus/virologia , Feminino , Seguimentos , Humanos , Itália/epidemiologia , Masculino , Tipagem Molecular , Pais , Prevalência , Irmãos
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