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BACKGROUND: To evaluate the rate of nocturnal enuresis (NE), body weight and obstructive sleep apnea in children 5 to 10 years of age in South Italy and the possible association among these disorders. METHODS: We have administered 1100 validated questionnaires, in Italian language, to parents and we have analyzed data with a logistic regression. RESULTS: Forty-two percent of children had a BMI≥85th (group 1) vs 58.0% normal weight children at the same age (group 2). There is a higher number of overweight males compared to females without statistically differences. In group 1 there was a higher number of children with NE and obstructive sleep disorders and some children present with the association among these three disorders. CONCLUSIONS: There are no statistically differences between two study groups for the association body weight-NE, body weight-NE-obstructive sleep disorders.
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Enurese Noturna/epidemiologia , Obesidade Infantil/enzimologia , Apneia Obstrutiva do Sono/epidemiologia , Peso Corporal , Criança , Pré-Escolar , Feminino , Humanos , Itália , Masculino , Inquéritos e QuestionáriosRESUMO
The Italian Consensus Position Statement on Diagnosis, Treatment and Prevention of Obesity in Children and Adolescents integrates and updates the previous guidelines to deliver an evidence based approach to the disease. The following areas were reviewed: (1) obesity definition and causes of secondary obesity; (2) physical and psychosocial comorbidities; (3) treatment and care settings; (4) prevention.The main novelties deriving from the Italian experience lie in the definition, screening of the cardiometabolic and hepatic risk factors and the endorsement of a staged approach to treatment. The evidence based efficacy of behavioral intervention versus pharmacological or surgical treatments is reported. Lastly, the prevention by promoting healthful diet, physical activity, sleep pattern, and environment is strongly recommended since the intrauterine phase.
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Obesidade Infantil/diagnóstico , Obesidade Infantil/terapia , Adolescente , Criança , Pré-Escolar , Consenso , Endocrinologia , Humanos , Lactente , Recém-Nascido , Itália , Pediatria , Sociedades MédicasRESUMO
Vitamin D plays a pivotal role in the regulation of calcium-phosphorus metabolism, particularly during pediatric age when nutritional rickets and impaired bone mass acquisition may occur.Besides its historical skeletal functions, in the last years it has been demonstrated that vitamin D directly or indirectly regulates up to 1250 genes, playing so-called extraskeletal actions. Indeed, recent data suggest a possible role of vitamin D in the pathogenesis of several pathological conditions, including infectious, allergic and autoimmune diseases. Thus, vitamin D deficiency may affect not only musculoskeletal health but also a potentially wide range of acute and chronic conditions. At present, the prevalence of vitamin D deficiency is high in Italian children and adolescents, and national recommendations on vitamin D supplementation during pediatric age are lacking. An expert panel of the Italian Society of Preventive and Social Pediatrics reviewed available literature focusing on randomized controlled trials of vitamin D supplementation to provide a practical approach to vitamin D supplementation for infants, children and adolescents.
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Suplementos Nutricionais , Deficiência de Vitamina D/epidemiologia , Deficiência de Vitamina D/prevenção & controle , Vitamina D/uso terapêutico , Vitaminas/uso terapêutico , Adolescente , Criança , Pré-Escolar , Consenso , Humanos , Lactente , Recém-Nascido , Itália/epidemiologia , Sociedades Médicas , Vitamina D/fisiologia , Deficiência de Vitamina D/complicaçõesRESUMO
PURPOSE OF REVIEW: The aim of this review is to highlight recent findings in prevention, diagnosis, and treatment of pediatric osteoporosis. RECENT FINDINGS: Several genes are involved in bone mass acquisition, and various monogenic bone disorders characterized by reduced bone mineral density and increased bone fragility have been recently described. Moreover, many chronic diseases and/or their treatment have been associated with impaired bone mass acquisition. Pediatric osteoporosis should be adequately suspected and properly diagnosed in children at risk of fractures. Particularly, detection of vertebral fracture allows the diagnosis regardless of densitometric evaluation. Dual X-ray absorptiometry remains the most widely used densitometric technique in childhood, but interpretation of results should be made with caution because of different confounding factors. Bisphosphonates represent one of the main medical treatments of pediatric osteoporosis, and many different protocols have been proposed. Bisphosphonates administration should be characterized by a first phase, followed by a period of maintenance. Optimal route of administration, duration of therapy, and long-term safety of bisphosphonates treatment require further investigation. SUMMARY: Careful monitoring of children at risk of fractures is essential to pose early diagnosis of osteoporosis. In children with persistent risk factors and reduced probability of spontaneous recovery, medical treatment with bisphosphonates should be considered.
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Conservadores da Densidade Óssea/uso terapêutico , Densidade Óssea , Gerenciamento Clínico , Fraturas Ósseas , Osteoporose , Medição de Risco , Absorciometria de Fóton , Criança , Fraturas Ósseas/epidemiologia , Fraturas Ósseas/etiologia , Fraturas Ósseas/prevenção & controle , Saúde Global , Humanos , Incidência , Osteoporose/diagnóstico , Osteoporose/tratamento farmacológico , Osteoporose/epidemiologia , Fatores de RiscoRESUMO
"22q11 deletion syndrome" (22q11DS) is a rare genetic syndrome, in which most patients share the same deletion, but their clinical features may vary a great deal. The genetic mechanisms underlying the variable expressivity and reduced penetrance of 22q11DS still have to be fully elucidated. Epilepsy has been reported in about 15.2% of the patients; however, few studies have focused on this topic, and in most cases, a detailed epileptic profile is missing. Since only a minority of patients experience epileptic seizures, 22q11deletion can be considered a predisposing factor, which is not sufficient "per se" to cause epilepsy; to date, no candidate gene for epilepsy has been identified in the deleted region. We report on a 6-year-old girl with 22q11DS presenting a form of epilepsy that can be classified as "Panayiotopoulos syndrome." Array CGH revealed an additional microduplication of 172 kb in 2q37, harboring three genes. One of these, DGKD (diacylglycerol kinase delta), is interrupted by the distal breakpoint of the duplication. DGKD encodes a cytoplasmic enzyme that phosphorylates diacylglycerol to produce phosphatidic acid. This is an important second messenger in a pathway of lipid signaling that has been implicated in epilepsy and other neurological diseases. Disruption of DGKD by a t(X;2) has been previously reported in a patient with epilepsy. The 2q37 microduplication was inherited from her mother, who never experienced epileptic seizures, thus this imbalance is not "per se" sufficient to cause epilepsy. It can be hypothesized that the epileptic phenotype is provoked by the simultaneous presence of 22q11.2 deletion and 2q37 duplication. It has been shown that rare additional copy-number variations (CNVs) outside the 22q11.2 region may modulate the risk of congenital heart defects. It is possible that also for the epileptic phenotype, the additional CNVs may represent an important modifying factor underlying the variable expressivity and incomplete penetrance in the 22q11DS.
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Increasing literature suggests the need to explore for post-traumatic stress disorder (PTSD) and post-traumatic stress symptoms in parents and caregivers of children with acute and chronic illnesses but scant data are available on epilepsy. The aim of the present study was to estimate full and partial PTSD rates among parents of children with epilepsy comparing DSM-5 and DSM-IV-TR criteria. Further, the aim of the present study was to examine possible gender differences between mothers and fathers. Results showed 9.1% and 12.1% PTSD rates in the total sample, according to DSM-5 or DSM-IV-TR criteria, respectively, with an overall consistency of 92.9% (Kohen's K=0.628, p=.453). Significant gender differences emerged for Avoidance/Numbing and Hyperarousal symptoms diagnosed by means of DSM-IV-TR criteria, as well as for Negative alterations in cognitions/mood and Hyperarousal symptoms, when adopting DSM-5 criteria. This study underscores the relevance of detecting PTSD in parents of children with a chronic illness such as epilepsy.
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Manual Diagnóstico e Estatístico de Transtornos Mentais , Epilepsia/psicologia , Pai/psicologia , Mães/psicologia , Transtornos de Estresse Pós-Traumáticos/diagnóstico , Transtornos de Estresse Pós-Traumáticos/psicologia , Adolescente , Adulto , Criança , Epilepsia/epidemiologia , Feminino , Humanos , Entrevista Psicológica/métodos , Entrevista Psicológica/normas , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Transtornos de Estresse Pós-Traumáticos/epidemiologiaRESUMO
We report on a patient with a 6.5 Mb interstitial de novo deletion in 3q24q25.2, characterized by array CGH. The patient is a 4-year and 2-month-old girl, who presented to us with mild developmental delay, absence of language, facial dysmorphism, hirsutism, strabismus, and Dandy-Walker Malformation. The main clinical signs typical of WS (Wisconsin syndrome) are evident in the patient. The molecular mapping of WS in 3q23q25 allowed geneticists to define the syndrome more accurately. Comparing the present patient's phenotype with that of cases with a molecular characterization so far reported, it was possible to narrow the critical region for WS to an interval of 750 Kb, where two genes (MBNL1 and TMEM14E) are harbored. The potential role of MBNL1 in causing the WS phenotype is discussed. © 2016 Wiley Periodicals, Inc.
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Deleção Cromossômica , Cromossomos Humanos Par 3 , Estudos de Associação Genética , Fenótipo , Hibridização Genômica Comparativa , Fácies , Feminino , Humanos , Hibridização in Situ Fluorescente , Lactente , Imageamento por Ressonância Magnética , Proteínas de Ligação a RNA/genética , SíndromeRESUMO
BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare autosomal recessive genetic disorder characterised by dysfunction of motile cilia. Ciliary dysmotility causes poor mucociliary clearance and leads to impairment of pulmonary function and severe respiratory infections. PCD has no specific therapy. With the aim to permanently restore gene function and normalise ciliary motility, we used gene editing to replace mutated with wild-type sequence in defective cells. METHODS: The target gene was dynein heavy chain 11 (DNAH11), an essential component of ciliary structure. Airway ciliated cells were collected from two patients with PCD with DNAH11 nonsense mutations and altered ciliary beating and pattern. Repair of the genetic defect was performed ex vivo by site-specific recombination using transcription activator-like effector nucleases (TALENs). RESULTS: In an epithelial cell line engineered to contain the DNAH11 target site, TALENs cleaved over 80% of the mutated DNAH11 sequence and replaced the mutated sequence with wild-type sequence in about 50% of cells. In airway ciliated cells of patients with PCD, site-specific recombination and normalisation of ciliary beating and pattern occurred in 33% and 29% of cells, respectively. CONCLUSION: This study demonstrates that gene editing can rescue ciliary beating ex vivo, opening up new avenues for treating PCD.
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Dineínas do Axonema/genética , Edição de Genes , Terapia Genética , Síndrome de Kartagener/terapia , Adolescente , Linhagem Celular , Movimento Celular/genética , Cílios/metabolismo , Cílios/patologia , Células Epiteliais/patologia , Genótipo , Humanos , Síndrome de Kartagener/genética , Síndrome de Kartagener/patologia , Lentivirus/genética , Masculino , Fenótipo , GêmeosRESUMO
UNLABELLED: Vitamin D is a key hormone in the regulation of calcium and phosphorus metabolism and plays a pivotal role in bone health, particularly during pediatric age when nutritional rickets and impaired bone mass acquisition may occur. Great interest has been placed in recent years on vitamin D's extraskeletal actions. However, while recent data suggest a possible role of vitamin D in the pathogenesis of several pathological conditions, including infectious and autoimmune diseases, the actual impact of vitamin D status on the global health of children and adolescents, other than bone, remains a subject of debate. In the meantime, pediatricians still need to evaluate the determinants of vitamin D status and consider vitamin D supplementation in children and adolescents at risk of deficiency. This review is the result of an expert meeting that was held during the congress "Update on vitamin D and bone disease in childhood" convened in Pisa, Italy, in May 2013. CONCLUSION: The collaboration of the international group of experts produced this "state of the art" review on vitamin D in childhood and adolescence. After dealing with vitamin D status and its determinants, the review outlines the current debate on vitamin D's health benefits, concluding with a practical approach to vitamin D supplementation during childhood and adolescence. WHAT IS KNOWN: ⢠Vitamin D deficiency is a worldwide health problem. ⢠Vitamin D deficiency affects not only musculoskeletal health but also a potentially wide range of acute and chronic diseases. What is New: ⢠We reviewed the literature focusing on randomized controlled trials of vitamin D supplementation during childhood and adolescence. ⢠This review will help pediatricians to appreciate the clinical relevance of an adequate vitamin D status and it will provide a practical approach to vitamin D supplementation.
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Osso e Ossos/fisiologia , Vitamina D/fisiologia , Adolescente , Densidade Óssea/efeitos dos fármacos , Calcificação Fisiológica/efeitos dos fármacos , Criança , Suplementos Nutricionais , Humanos , Guias de Prática Clínica como Assunto , Vitamina D/administração & dosagem , Vitamina D/análogos & derivados , Vitamina D/sangue , Deficiência de Vitamina D/sangue , Deficiência de Vitamina D/prevenção & controleRESUMO
BACKGROUND: Mannose-binding lectin (MBL) plays an important role in innate immunity and has been reported to be associated with the age-related decline in lung function in cystic fibrosis. HYPOTHESIS: MBL polymorphisms are associated with lung function decline in Primary Ciliary Dyskinesia (PCD). METHODS: We performed sputum microbiology, spirometry pre- and post-administration of salbutamol, ciliary motion analysis, ultrastructural assessment of cilia, ciliogenesis in culture, and chest high resolution computed tomography in children with a clinical history of respiratory tract infections and/or presence of bronchiectasis suggestive of PCD or secondary ciliary dyskinesia (SCD). All subjects were evaluated for single nucleotide polymorphisms in the gene encoding MBL-2. RESULTS: The diagnosis of PCD was established in 45 subjects, while in the remaining 53 the diagnosis was SCD. A significant bronchodilator response was observed only in PCD associated with the MBL2-3 genotype, which is known to be associated with low/undetectable MBL serum levels. Also, bronchiectasis severity was significantly greater in subjects with MBL2-3 in both PCD and SCD. No other association was found between MBL genotypes and clinical findings. CONCLUSIONS: MBL plays a relatively minor role as a disease modifier in PCD. A similar finding in SCD supports the likely significance of this result.
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Bronquiectasia/etiologia , Síndrome de Kartagener/genética , Lectina de Ligação a Manose/genética , Polimorfismo de Nucleotídeo Único , Adolescente , Bronquiectasia/diagnóstico por imagem , Broncodilatadores/uso terapêutico , Feminino , Genótipo , Humanos , Síndrome de Kartagener/complicações , Síndrome de Kartagener/tratamento farmacológico , Masculino , Radiografia , Índice de Gravidade de DoençaRESUMO
OBJECTIVE. Bone health is a major concern in patients with Turner syndrome (TS). There are few studies assessing bone mineral status in TS adolescents and none have reported a clear relationship with the risk of fracture. We assessed bone mineral status at three different skeletal sites by two different densitometric techniques in a group of TS adolescents. DESIGN. In 24 TS adolescents (17.1±3.1 years) we evaluated lumbar and femoral volumetric bone mineral density (vBMD) with dual energy X-ray absorptiometry (DXA), amplitude-dependent speed of sound (AD-SoS) and bone transmission time (BTT) with phalangeal quantitative ultrasound (QUS). RESULTS. Mean lumbar vBMD Z-score was normal, while mean femoral vBMD, AD-SoS and BTT Z-score were reduced. 8/24 (33.3%) and 13/24 (54.2%) girls had AD-SoS and BTT ≤-2 Z-score, respectively, while lumbar vBMD and femoral vBMD were ≤-2 Z-score only in 2/24 (8.4%) and 1/24 (4.2%) patients. Overall, we documented 15 fractures (three pathological) in 8 girls. Patients who reported at least one fracture had lower AD-SoS and BTT Z-score values than fracture-free girls. The presence of a value of BTT ≤-2.0 Z-score was associated with a significant OR of positive history of fracture of 11.67 (χ2=5.906, p =0.015, C.I. 95% 1.14-119.54). Lumbar and femoral vBMD were not related to fracture risk. CONCLUSIONS. TS adolescents may have impaired bone mineral status in skeletal sites with predominant cortical bone. Phalangeal QUS represents a useful method to identify subjects with increased fracture risk.
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Densidade Óssea , Falanges dos Dedos da Mão/diagnóstico por imagem , Fraturas por Osteoporose/etiologia , Síndrome de Turner/complicações , Síndrome de Turner/diagnóstico por imagem , Absorciometria de Fóton , Adolescente , Fatores Etários , Distribuição de Qui-Quadrado , Criança , Feminino , Fêmur/diagnóstico por imagem , Humanos , Vértebras Lombares/diagnóstico por imagem , Fraturas por Osteoporose/diagnóstico , Valor Preditivo dos Testes , Prognóstico , Medição de Risco , Fatores de Risco , Fatores Sexuais , Ultrassonografia , Adulto JovemRESUMO
BACKGROUND: Vitamin D plays an important role in health promotion during adolescence. Vitamin D deficiency and insufficiency are common in adolescents worldwide. Few data on vitamin D status and risk factors for hypovitaminosis D in Italian adolescents are currently available. METHODS: 25-hydroxyvitamin D (25-OH-D) and parathyroid hormone (PTH) levels were evaluated in 427 Italian healthy adolescents (10.0-21.0 years). We used the following cut-off of 25-OH-D to define vitamin D status: deficiency < 50 nmol/L; insufficiency 50-75 nmol/L; sufficiency ≥ 75 nmol/L. Hypovitaminosis D was defined as 25-OH-D levels < 75.0 nmol/L and severe vitamin D deficiency as 25-OH-D levels < 25.0 nmol/L. We evaluated gender, residence, season of blood withdrawal, ethnicity, weight status, sun exposure, use of sunscreens, outdoor physical activity, and history of fractures as predictors of vitamin D status. RESULTS: Enrolled adolescents had a median serum 25-OH-D level of 50.0 nmol/L, range 8.1-174.7, with 82.2% having hypovitaminosis D. Vitamin D deficiency and insufficiency were detected in 49.9% and 32.3% of adolescents, respectively. Among those with deficiency, 38 subjects were severely deficient (38/427, 8.9% of the entire sample). Non-white adolescents had a higher prevalence of severe vitamin D deficiency than white subjects (6/17-35.3% vs 32/410-7.8% respectively, p = 0.002). Logistic regression showed increased risk of hypovitaminosis D as follows: blood withdrawal taken in winter-spring (Odds ratio (OR) 5.64) compared to summer-fall period; overweight-obese adolescents (OR 3.89) compared to subjects with normal body mass index (BMI); low sun exposure (OR 5.94) compared to moderate-good exposure and regular use of sunscreens (OR 5.89) compared to non regular use. Adolescents who performed < 3 hours/week of outdoor exercise had higher prevalence of hypovitaminosis D. Gender, residence, and history of fractures were not associated with vitamin D status. Serum 25-OH-D levels were inversely related to PTH (r = -0.387, p < 0.0001) and BMI-SDS (r = -0.141, p = 0.007). 44/427 (10.3%) adolescents showed secondary hyperparathyroidism. CONCLUSIONS: Italian adolescents have high prevalence of vitamin D deficiency and insufficiency. Pediatricians should tackle predictors of vitamin D status, favoring a healthier lifestyle and promoting supplementation in the groups at higher risk of hypovitaminosis D.
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Hormônio Paratireóideo/sangue , Deficiência de Vitamina D/epidemiologia , Vitamina D/análogos & derivados , Adolescente , Índice de Massa Corporal , Criança , Intervalos de Confiança , Estudos Transversais , Feminino , Seguimentos , Humanos , Itália/epidemiologia , Masculino , Razão de Chances , Prevalência , Valores de Referência , Estudos Retrospectivos , Fatores de Risco , Vitamina D/sangue , Deficiência de Vitamina D/sangue , Adulto JovemRESUMO
The definition Small for Gestational Age (SGA) describes those newborns weighing and/or measuring in length <-2 SD than expected for their gestational age. These subjects are at higher risk of short stature, neonatal complications, alterations of glucose, lipid metabolism, body composition, bone metabolism and puberty, neurocognitive vulnerabilities and alterations of the GH-IGF-I axis. With regards to growth, in 85-90% of the cases children born SGA experience a period of catch up growth that allows them to achieve an adult stature within normal range. In a 10-15% of the cases, the catch up growth period does not take place and this entails short stature in adulthood. In the latter group, GH treatment may be considered to achieve adult height in the range of genetical target stature. With reference to glucose and lipid metabolism, young adults born SGA and particularly those with early catch up growth are at higher risk of developing insulin resistance, type 2 diabetes mellitus, arterial hypertension, dyslipidemia, overweight, obesity and metabolic syndrome. Subjects born SGA are in need of a correct diagnostic and eventually therapeutic approach.
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Transtornos do Crescimento/tratamento farmacológico , Transtornos do Crescimento/metabolismo , Hormônio do Crescimento Humano/uso terapêutico , Recém-Nascido Pequeno para a Idade Gestacional/fisiologia , Adulto , Composição Corporal/efeitos dos fármacos , Desenvolvimento Ósseo/efeitos dos fármacos , Desenvolvimento Ósseo/fisiologia , Desenvolvimento Infantil/efeitos dos fármacos , Desenvolvimento Infantil/fisiologia , Transtornos do Crescimento/diagnóstico , Humanos , Recém-Nascido , Doenças do Recém-Nascido/tratamento farmacológico , Doenças do Recém-Nascido/metabolismo , Puberdade/efeitos dos fármacos , Puberdade/fisiologia , Resultado do TratamentoRESUMO
Primary ciliary dyskinesia (PCD) is a congenital, clinically and ultrastructurally heterogeneous disease due to abnormal structure and/or function of cilia, with impaired mucociliary transport leading to several respiratory disorders. PCD can be diagnosed by the combination of thorough clinical examination with functional and ultrastructural analysis of the cilia. This paper shows progresses in PCD diagnosis obtained by ciliogenesis in culture evaluation of ciliated respiratory cells and by genetic analysis of mutations in candidate genes. Moreover, since to date no specific treatments are available to correct the ciliary dysfunction, the paper shows the proper therapeutical approach by the use of respiratory physiotherapy and regular exercise to favour airways clearance, by antibiotics administration to control acute airway infections. Macrolides administration as antiinflammatory option is suggested.
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Síndrome de Kartagener/genética , Axonema/ultraestrutura , Criança , Pré-Escolar , Humanos , Lactente , Recém-Nascido , Síndrome de Kartagener/diagnóstico , Síndrome de Kartagener/patologia , Síndrome de Kartagener/terapia , MutaçãoRESUMO
UNLABELLED: Hypovitaminosis D affects children and adolescents all around the world. Italian data on vitamin D status and risk factors for hypovitaminosis D during pediatric age are lacking. Six hundred fifty-two children and adolescents (range 2.0-21.0 years) living in the northwestern area of Tuscany were recruited at the Department of Pediatrics, University Hospital Pisa. None of them had received vitamin D supplementation in the previous 12 months. 25-hydroxyvitamin D (25-OH-D) and parathyroid hormone (PTH) levels were analyzed in all subjects. Severe vitamin D deficiency was defined as serum levels of 25-OH-D<25.0 nmol/L (10.0 ng/mL) and vitamin D deficiency a<50.0 nmol/L (20.0 ng/mL). Serum 25-OH-D levels of 50.0-74.9 nmol/L (20.0-29.9 ng/mL) indicated vitamin D insufficiency, whereas 25-OH-D levels ≥ 75.0 nmol/L (30.0 ng/mL) were considered sufficient. Hypovitaminosis D was defined as 25-OH-D levels<75.0 nmol/L (30.0 ng/mL). The median serum 25-OH-D level was 51.8 nmol/L, range 6.7-174.7 (20.7 ng/mL, range 2.7-70.0), with a prevalence of vitamin D deficiency, insufficiency, and sufficiency of 45.9, 33.6, and 20.5 %, respectively. The prevalence of severe vitamin D deficiency was 9.5 %. Adolescents had lower median 25-OH-D levels (49.8 nmol/L, range 8.1-174.7; 20.0 ng/mL, range 3.2-70.0) than children (55.6 nmol/L, range 6.8-154.6; 22.3 ng/mL, range 2.7-61.9, p=0.006). Non-white individuals (n=37) had median serum 25-OH-D levels in the range of deficiency (28.2 nmol/L, range 8.1-86.2; 11.3 ng/mL, range 3.2-34.5), with 36/37 having hypovitaminosis D. Logistic regression showed significant increased risk of hypovitaminosis D in the following: blood samples taken in winter (odds ratio (OR) 27.20), spring (OR 26.44), and fall (OR 8.27) compared to summer; overweight (OR 5.02) and obese (OR 5.36) subjects compared to individuals with normal BMI; low sun exposure (OR 8.64) compared to good exposure, and regular use of sunscreens (OR 7.06) compared to non-regular use. Gender and place of residence were not associated with vitamin D status. The 25-OH-D levels were inversely related to the PTH levels (r=-0.395, p<0.0001). Sixty-three out of the 652 (9.7 %) subjects showed secondary hyperparathyroidism. CONCLUSION: Italian children and adolescents who were not receiving vitamin D supplementation had high prevalence of hypovitaminosis D. Careful identification of factors affecting vitamin D status is advisable to promptly start vitamin D supplementation in children and adolescents.
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Hormônio Paratireóideo/sangue , Deficiência de Vitamina D/epidemiologia , Vitamina D/análogos & derivados , Adolescente , Índice de Massa Corporal , Pré-Escolar , Estudos Transversais , Humanos , Itália/epidemiologia , Masculino , Prevalência , Grupos Raciais , Valores de Referência , Fatores de Risco , Estações do Ano , Protetores Solares/administração & dosagem , Vitamina D/sangue , Deficiência de Vitamina D/diagnóstico , Adulto JovemRESUMO
Incomplete Kawasaki disease represents a diagnostic challenge for pediatricians. In the absence of classical presentation, the laboratoristic evaluation of systemic inflammation can help in placing the correct diagnosis to promptly start adequate therapy. Erythema multiforme is an acute, self-limiting condition considered to be a hypersensitivity reaction commonly associated with various infections or medications. This aspecific skin condition has been rarely described as a sign of Kawasaki disease. We report on the case of a 4 years old boy presenting high-grade fever associated with erythema multiforme and evidence of systemic inflammation who showed a good response to prompt treatment with intravenous immunoglobulins.
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Eritema Multiforme/diagnóstico , Síndrome de Linfonodos Mucocutâneos/diagnóstico , Pré-Escolar , Eritema Multiforme/tratamento farmacológico , Eritema Multiforme/etiologia , Febre/etiologia , Humanos , Imunoglobulinas Intravenosas/administração & dosagem , Masculino , Síndrome de Linfonodos Mucocutâneos/complicações , Síndrome de Linfonodos Mucocutâneos/tratamento farmacológico , Resultado do TratamentoRESUMO
We report on a de novo interstitial deletion of chromosome 21q in a patient presenting with characteristic facial features, intellectual disability, and epilepsy. The deletion extent was about 4.9 Mb from position 37713441 bp (21q22.13) to position 42665162 bp (21q22.3) (NCBI36/hg18 map). Patients with partial monosomy 21 are quite rare; this anomaly has been associated with a wide spectrum of clinical signs, ranging from very mild to quite severe phenotypes. This variability results from variability in the deleted regions, thus accurate molecular definition of the chromosomal breakpoints is necessary to make better genotype-phenotype correlations. We compared our patient's phenotype with the few other patients reported in the literature and found to have similar deletion when analyzed by array CGH. The minimal overlapping region contains only two genes, DYRK1A and KCNJ6, which may play a major role in these patients' phenotype.
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Anormalidades Múltiplas/diagnóstico , Epilepsia Generalizada/diagnóstico , Deficiência Intelectual/diagnóstico , Microcefalia/diagnóstico , Monossomia/diagnóstico , Anormalidades Múltiplas/genética , Criança , Cromossomos Humanos Par 21/genética , Hibridização Genômica Comparativa , Epilepsia Generalizada/genética , Epilepsia Generalizada/fisiopatologia , Humanos , Deficiência Intelectual/genética , Masculino , Microcefalia/genética , Monossomia/genéticaRESUMO
BACKGROUND: Carotid intima-media thickness (IMT), indices of large artery stiffness and measures of endothelium function may be used as markers of early atherosclerosis in type 1 diabetes mellitus (T1DM). The aim of the present study was to compare the indices of large artery structure and function as well as endothelial function and regenerating capacity between adolescents with T1DM and healthy control of similar age. In addition, the associations of different vascular measures with endothelial progenitor cells (EPCs), glyco-metabolic control and serum levels of advanced glycation endproducts (AGEs), soluble receptors for AGEs (sRAGE) and adiponectin were evaluated. METHODS: Sixteen uncomplicated young T1DM patients (mean age 18 ± 2 years, history of disease 11 ± 5 years, HbA1c 7.7 ± 1.1%) and 26 controls (mean age 19 ± 2 years) were studied. A radiofrequency-based ultrasound system (Esaote MyLab 70) was used to measure carotid IMT and wave speed (WS, index of local stiffness), applanation tonometry (PulsePen) was applied to obtain central pulse pressure (PP) and augmentation index (AIx), and carotid-femoral pulse wave velocity (PWV, Complior) was used as index of aortic stiffness. Peripheral endothelium-dependent vasodilation was determined as reactive hyperemia index (RHI, EndoPAT). Circulating EPCs, glycometabolic profile, AGEs (autofluorescence method), sRAGE and adiponectin were also measured. RESULTS: After adjusting for age, sex and blood pressure, T1DM adolescents had significantly higher carotid IMT (456 ± 7 vs. 395 ± 63 µm, p < 0.005), carotid WS (p < 0.005), PWV (p = 0.01), AIx (p < 0.0001) and central PP (p < 0.01) and lower EPCs (p = 0.02) as compared to controls. RHI was reduced only in diabetic patients with HbA1c ≥7.5% (p < 0.05). In the overall population, EPCs were an independent determinant of carotid IMT (together with adiponectin), while fasting plasma glucose was an independent determinant of carotid WS, AIx and central PP. CONCLUSIONS: Our findings suggest that young subjects with relatively long-lasting T1DM have a generalized preclinical involvement of large artery structure and function, as well as a blunted endothelium regenerating capacity. Hyperglycemia and suboptimal chronic glycemic control seem to deteriorate the functional arterial characteristics, such as large arteries stiffness, wave reflection and peripheral endothelium-dependent vasodilation, whereas an impaired endothelium regenerating capacity and adiponectin levels seem to influence arterial structure.
Assuntos
Artérias Carótidas/fisiologia , Diabetes Mellitus Tipo 1/sangue , Células Endoteliais/metabolismo , Células-Tronco/metabolismo , Rigidez Vascular/fisiologia , Adolescente , Fatores Etários , Artérias Carótidas/patologia , Estudos de Coortes , Diabetes Mellitus Tipo 1/patologia , Células Endoteliais/patologia , Feminino , Humanos , Masculino , Células-Tronco/patologia , Adulto JovemRESUMO
OBJECTIVE: To determine the concentrations of zearalenone and its metabolites in the leading brands of infant formula milks and meat-based infant foods commonly marketed in Italy, and to assess their repercussion in the provisional tolerable daily intakes of these estrogenic mycotoxins. STUDY DESIGN: A total of 185 cow's milk-based infant formulas and 44 samples of meat-based infant foods samples were analyzed. The analysis of mycotoxins was performed by immunoaffinity column clean-up and high-pressure liquid chromatography with fluorescence detection. RESULTS: Zearalenone was detected in 17 (9%) milk samples (maximum 0.76 µg/L). The α-zearalenol was detected in 49 (26%) milk samples (maximum 12.91 µg/L). The ß-zearalenol was detected in 53 (28%) milk samples (maximum 73.24 µg/L). The α-zearalanol and ß-zearalanol were not detected in milk samples. Although α-zearalenol was detected in 12 (27%) meat samples (maximum 30.50 µg/kg), only one meat-based sample was contaminated by α-zearalanol (950 µg/kg). Zearalenone, ß-zearalenol, and ß-zearalanol were not detected in meat samples. CONCLUSIONS: This study shows the presence of mycoestrogens in infant (milk-based and meat-based) food, and this is likely to have great implications for subsequent generations, suggesting the need to perform occurrence surveys in this type of food.