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1.
BMC Pediatr ; 21(1): 358, 2021 08 24.
Artigo em Inglês | MEDLINE | ID: mdl-34429086

RESUMO

BACKGROUND: Spinal cord compression (SCC) is an uncommon, severe complication of Hodgkin lymphoma (HL), occurring in 0.2% of cases at the onset and in 6% during disease progression. We present a teenager with SCC with clinical onset of HL; her pre-existing neurological abnormalities covered the presence of an epidural mass, which could have misled us. CASE PRESENTATION: A 13-year-old girl presented with a three-month history of lower back pain and degrading ability to walk. She suffered from a chronic gait disorder due to her preterm birth. A magnetic resonance imaging of the spine revealed an epidural mass causing collapse of twelfth thoracic vertebra and thus compression and displacement of the spinal cord. Histological examination with immunohistochemical analysis of the epidural mass demonstrated a classic-type Hodgkin lymphoma. Early pathology-specific treatment allowed to avoid urgent surgery, achieve survival and restore of neurological function. CONCLUSIONS: Children and adolescents with back pain and neurological abnormalities should be prioritized to avoid diagnostic delay resulting in potential loss of neurological function. SCC requires a prompt radiological assessment and an expert multidisciplinary management.


Assuntos
Doença de Hodgkin , Nascimento Prematuro , Compressão da Medula Espinal , Adolescente , Criança , Diagnóstico Tardio , Feminino , Doença de Hodgkin/complicações , Doença de Hodgkin/diagnóstico , Humanos , Recém-Nascido , Gravidez , Compressão da Medula Espinal/diagnóstico por imagem , Compressão da Medula Espinal/etiologia , Vértebras Torácicas/diagnóstico por imagem
2.
Pediatr Allergy Immunol ; 31 Suppl 26: 11-13, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-33236435

RESUMO

In the era of precision medicine, allergen immunotherapy (AIT) represents a landmark for the management of IgE-mediated allergic diseases. AIT is recognized as a potentially curative therapy and is currently accepted and routinely prescribed worldwide. However, there are still unmet needs. The efforts of researchers are aimed at implementing current immunotherapeutic strategies to improve the standard care of patients suffering from IgE-mediated respiratory allergic diseases. In addition, over the horizon, the most realistic option is the active treatment of IgE-mediated food allergy with oral immunotherapy. Preclinical studies and clinical trials are increasingly conducted to identify innovative forms of AIT administration, potential biomarkers, alternative immunotherapeutic allergen candidates, and new adjuvants. Telemedicine could represent a further emerging field capable of supporting health service delivery and improving clinical outcomes of AIT.


Assuntos
Dessensibilização Imunológica , Hipersensibilidade Alimentar , Adjuvantes Imunológicos , Alérgenos , Biomarcadores , Humanos
3.
Pediatr Blood Cancer ; 67(9): e28300, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32614144

RESUMO

BACKGROUND: the available studies on Hurthle cell carcinoma (HCC) in pediatric age are scarce and based on isolated case reports. Aims of the present study were to review the available pediatric literature on HCC (2000-2019), to describe the cohort of children with this cancer histotype, and to estimate its relative prevalence in pediatric age. PROCEDURE: We retrospectively reconstructed an HCC course in five patients < 19 years who were identified in our departments during the period 2000-2019, and we reviewed the available pediatric studies on this differentiated thyroid cancer (DTC) variant. RESULTS: HCC occurred with a relative prevalence of 5.8% at a median chronological age of 12.5 years. None of HCC patients exhibited, at diagnosis, thyroid dysfunction, extensive lateral neck disease, or distant metastases, and all showed a persistent remission over time. Three patients showed, at diagnosis, antecedents of other diseases (Hashimoto's thyroiditis, neurofibromatosis type 1, and osteosarcoma). CONCLUSIONS: (1) In childhood, the relative prevalence of HCC among different thyroid cancer histotypes is 5.8%, that is close to the one previously reported both in the general population and in other less numerous children's cohorts; (2) HCC may develop even early, at the age of 7; (3) in childhood, HCC does not seem to have a more aggressive behavior when compared with other DTC histotypes; (4) antecedents of other diseases are not infrequent in the history of children with HCC.


Assuntos
Adenoma Oxífilo/epidemiologia , Glândula Tireoide/patologia , Neoplasias da Glândula Tireoide/epidemiologia , Adenoma Oxífilo/complicações , Adolescente , Criança , Feminino , Doença de Hashimoto/complicações , Humanos , Masculino , Neurofibromatose 1/complicações , Osteossarcoma/complicações , Estudos Retrospectivos , Testes de Função Tireóidea , Neoplasias da Glândula Tireoide/complicações , Adulto Jovem
4.
New Microbiol ; 42(1): 43-48, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30957869

RESUMO

Brucellosis is one of the most common zoonoses in the world, especially in Southern Italy, where many cases are still recorded every year. 128 cases of brucellosis were observed in Messina (Sicily) in 2016, representing a tenfold increase in the number of cases of brucellosis expected. The aim of this multicenter retrospective study was to analyze clinical and microbiological aspects of a brucellosis outbreak in the province of Messina in 2016, the incidence of its complications and the treatment combinations applied. The principal transmission route was through the ingestion of unpasteurized fresh cheese. The mean latency period between the onset of the symptoms and diagnosis was 35.58±42.75 days. A late diagnosis increases the risk of developing complications. Drug-resistant strains of B. melitensis to Trimethoprim/ Sulfamethoxazole and Ciprofloxacin were found in blood cultures of 58.4% patients. Brucellosis is still present in Sicily. A diagnostic delay predisposes to complications requiring prolonged therapies. The finding of Brucella melitensis strains resistant to the most widespread treatments is worrisome and needs further investigation. Moreover, the use of alternative combination antibiotic therapy is recommended.


Assuntos
Brucella melitensis , Brucelose , Surtos de Doenças , Animais , Brucelose/complicações , Brucelose/epidemiologia , Surtos de Doenças/estatística & dados numéricos , Farmacorresistência Bacteriana , Humanos , Estudos Retrospectivos , Fatores de Risco , Sicília
5.
New Microbiol ; 41(4)2018 Oct 12.
Artigo em Inglês | MEDLINE | ID: mdl-30311622

RESUMO

Brucellosis is one of the most common zoonoses in the world, especially in Southern Italy, where many cases are still recorded every year. 128 cases of brucellosis were observed in Messina (Sicily) in 2016, representing a tenfold increase in the number of cases of brucellosis expected. The aim of this multicenter retrospective study was to analyze clinical and microbiological aspects of a brucellosis outbreak in the province of Messina in 2016, the incidence of its complications and the treatment combinations applied. The principal transmission route was through the ingestion of unpasteurized fresh cheese. The mean latency period between the onset of the symptoms and diagnosis was 35.58 ± 42.75 days. A late diagnosis increases the risk of developing complications. Drug-resistant strains of B. melitensis to Trimethoprim/Sulfamethoxazole and Ciprofloxacin were found in blood cultures of 58.4% patients. Brucellosis is still present in Sicily. A diagnostic delay predisposes to complications requiring prolonged therapies. The finding of Brucella melitensis strains resistant to the most widespread treatments is worrisome and needs further investigation. Moreover, the use of alternative combination antibiotic therapy is recommended.

6.
Int J Mol Sci ; 17(6)2016 Jun 17.
Artigo em Inglês | MEDLINE | ID: mdl-27322255

RESUMO

Tuberculosis (TB) is one of the leading causes of death worldwide. Over the last decades, TB has also emerged in the pediatric population. Epidemiologic data of childhood TB are still limited and there is an urgent need of more data on very large cohorts. A multicenter study was conducted in 27 pediatric hospitals, pediatric wards, and public health centers in Italy using a standardized form, covering the period of time between 1 January 2010 and 31 December 2012. Children with active TB, latent TB, and those recently exposed to TB or recently adopted/immigrated from a high TB incidence country were enrolled. Overall, 4234 children were included; 554 (13.1%) children had active TB, 594 (14.0%) latent TB and 3086 (72.9%) were uninfected. Among children with active TB, 481 (86.8%) patients had pulmonary TB. The treatment of active TB cases was known for 96.4% (n = 534) of the cases. Overall, 210 (39.3%) out of these 534 children were treated with three and 216 (40.4%) with four first-line drugs. Second-line drugs where used in 87 (16.3%) children with active TB. Drug-resistant strains of Mycobacterium tuberculosis were reported in 39 (7%) children. Improving the surveillance of childhood TB is important for public health care workers and pediatricians. A non-negligible proportion of children had drug-resistant TB and was treated with second-line drugs, most of which are off-label in the pediatric age. Future efforts should concentrate on improving active surveillance, diagnostic tools, and the availability of antitubercular pediatric formulations, also in low-endemic countries.


Assuntos
Tuberculose Resistente a Múltiplos Medicamentos/epidemiologia , Tuberculose Pulmonar/epidemiologia , Adolescente , Instituições de Assistência Ambulatorial/estatística & dados numéricos , Antituberculosos/uso terapêutico , Criança , Pré-Escolar , Feminino , Hospitais Pediátricos/estatística & dados numéricos , Humanos , Lactente , Itália , Masculino , Sistema de Registros/estatística & dados numéricos , Tuberculose Resistente a Múltiplos Medicamentos/diagnóstico , Tuberculose Resistente a Múltiplos Medicamentos/tratamento farmacológico , Tuberculose Pulmonar/diagnóstico , Tuberculose Pulmonar/tratamento farmacológico
7.
Minerva Pediatr ; 68(2): 152-4, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24825480

RESUMO

In a short girl with celiac disease and Hashimoto's thyroiditis (HT), suspicion of an associated pituitary lesion was suggested by the finding of a thyroid function pattern that was not compatible with HT-related hypothyroidism (low FT4 with normal TSH). This case report reinforces the view that the finding of a normal TSH in presence of a low FT4 should always alert pediatricians and raise suspicion of central hypothyroidism, even when a primary thyroid disease has been already identified. In this case TSH deficiency played a critical role in disclosing diagnosis of craniopharyngioma (CP). Therefore, the subsequent work-up was directed towards investigating pituitary function and morphology. Endocrinological investigations evidenced a picture of TSH and other pituitary hormone deficiency, whereas magnetic resonance imaging revealed an intrasellar CP. Therefore, in this case TSH deficiency played a key-role in disclosing CP diagnosis.


Assuntos
Craniofaringioma/diagnóstico por imagem , Doença de Hashimoto/diagnóstico , Neoplasias Hipofisárias/diagnóstico por imagem , Tireotropina/deficiência , Estatura , Doença Celíaca/complicações , Criança , Craniofaringioma/patologia , Feminino , Seguimentos , Humanos , Imageamento por Ressonância Magnética , Neoplasias Hipofisárias/patologia
8.
Minerva Pediatr ; 68(3): 226-9, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25502918

RESUMO

Autoimmune polyendocrinopathy-candidiasis-ectodermal-distrophy (APECED) is a rare autosomal recessive disease, which is mainly characterized by the association of many autoimmune diseases, with a classic triad including chronic mucocutaneous candidiasis, hypoparathyroidism and adrenocortical failure. Its clinical spectrum has significantly enlarged in the last years and other non-classic components have been recently described. Aim of this review was to alert pediatricians to these novel clinical aspects of this syndrome, that have been recently included among the autoimmune APECED manifestations: a) chronic lung disease, that may evolve to cor pulmonale and terminal respiratory failure; b) chronic inflammatory demyelinating polineuropathy, with progressive muscular weakness of both arms and legs and sensory loss; c) gastrointestinal dysfunction, with recurrent diarrhea, malabsorption and steatorrhea or chronic constipation. For each of these novel components of APECED, specific autoantibodies against either lung autoantigens or peripheral nerves or tryptophan hydroxylase have been just recently identified.


Assuntos
Autoanticorpos/imunologia , Poliendocrinopatias Autoimunes/fisiopatologia , Gastroenteropatias/etiologia , Gastroenteropatias/imunologia , Humanos , Pneumopatias/etiologia , Pneumopatias/imunologia , Debilidade Muscular/etiologia , Debilidade Muscular/imunologia , Poliendocrinopatias Autoimunes/imunologia , Polineuropatias/etiologia , Polineuropatias/imunologia
10.
J Immunol ; 188(10): 4906-12, 2012 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-22490868

RESUMO

Chronic inflammatory demyelinating polyneuropathy is a debilitating autoimmune disease characterized by peripheral nerve demyelination and dysfunction. How the autoimmune response is initiated, identity of provoking Ags, and pathogenic effector mechanisms are not well defined. The autoimmune regulator (Aire) plays a critical role in central tolerance by promoting thymic expression of self-Ags and deletion of self-reactive T cells. In this study, we used mice with hypomorphic Aire function and two patients with Aire mutations to define how Aire deficiency results in spontaneous autoimmune peripheral neuropathy. Autoimmunity against peripheral nerves in both mice and humans targets myelin protein zero, an Ag for which expression is Aire-regulated in the thymus. Consistent with a defect in thymic tolerance, CD4(+) T cells are sufficient to transfer disease in mice and produce IFN-γ in infiltrated peripheral nerves. Our findings suggest that defective Aire-mediated central tolerance to myelin protein zero initiates an autoimmune Th1 effector response toward peripheral nerves.


Assuntos
Tolerância Imunológica , Proteína P0 da Mielina/deficiência , Mutação Puntual , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/imunologia , Fatores de Transcrição/deficiência , Fatores de Transcrição/genética , Sequência de Aminoácidos , Animais , Autoanticorpos/sangue , Modelos Animais de Doenças , Feminino , Humanos , Tolerância Imunológica/genética , Camundongos , Camundongos Endogâmicos NOD , Camundongos Mutantes , Camundongos SCID , Dados de Sequência Molecular , Proteína P0 da Mielina/genética , Proteína P0 da Mielina/fisiologia , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/sangue , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/genética , Fatores de Transcrição/fisiologia , Proteína AIRE
11.
Children (Basel) ; 11(5)2024 Apr 30.
Artigo em Inglês | MEDLINE | ID: mdl-38790534

RESUMO

BACKGROUND: Fever is one of the most frequent symptoms highlighted during medical assistance. Due to this great impact, our study has the purpose of analyzing the demographic and laboratory characteristics of patients hospitalized in our center and identifying predictive markers to make the differential diagnosis between infectious and non-infectious fever. METHODS: Our population included 220 children, collected from January 2017 to August 2022, hospitalized for continuous fever (4 days or more in duration with at least one temperature peak ≥37.5 °C) and excluded cases of discharge against medical advice and/or transfer to other operating units. Demographic (mean age at the time of admission, frequency of hospitalization, and mean days of hospitalization), laboratory, and instrumental variables were analyzed in order to find correlation with fever etiology. RESULTS: Older age at the time of hospitalization, family history of periodic fever, fever lasting more than 8 days, and longer hospitalization are strongly associated with non-infectious fever, together with anemia, high platelet count, high CRP and ferritin, and hyponatremia at the time of admission. Paracetamol is the preferred antipyretic treatment. Echocardiogram has shown anomalies in patients with infectious fever, while ECG anomalies were detected in non-infectious fever. CONCLUSIONS: Our data underline the importance of predictive markers, such as clinical and laboratory parameters, to differentiate infectious from non-infectious fevers, but further studies are necessary.

12.
Ital J Pediatr ; 50(1): 98, 2024 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-38750561

RESUMO

Adiposity rebound (AR) refers to the second rise of the body mass index (BMI) curve that usually occurs between six and eight years of age. AR timing has a significant impact on patients' health: early AR (EAR), usually before the age of five, is considered to be the earliest indicator of obesity and its related health conditions later in life. Many studies have evaluated factors that can be predictors of EAR, and identified low birth weight and gestational weight gain as novel predictors of EAR, highlighting the role of the intrauterine environment in the kinetics of adiposity. Furthermore, children with breastfeeding longer than 4 months have been found to be less likely to have an EAR, whereas children born to advanced-age mothers, high maternal BMI had a higher risk of having an EAR. Some differences were found in the timing of AR in boys and girls, with girls being more likely to have EAR. The aim of this review is to answer the following three questions: 1) Which are the prenatal and perinatal factors associated with increased risk of EAR? Is gender one of these? 2) Which are the outcomes of EAR in childhood and in adulthood? 3) Which measures can be taken in order to prevent premature AR?


Assuntos
Adiposidade , Índice de Massa Corporal , Humanos , Adiposidade/fisiologia , Feminino , Criança , Masculino , Obesidade Infantil/epidemiologia , Fatores de Risco , Pré-Escolar , Gravidez , Recém-Nascido
13.
Horm Res Paediatr ; : 1-10, 2024 Aug 05.
Artigo em Inglês | MEDLINE | ID: mdl-39102796

RESUMO

INTRODUCTION: Adrenocorticotropic hormone (ACTH)-independent Cushing syndrome (CS) is very rare condition in children. Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of CS, which in most cases occurs in the context of Carney complex (CNC). CNC is a rare autosomal-dominantly inherited genetic syndrome, usually due to pathogenic variants of the PRKAR1A (regulatory subunit R1A of the protein kinase A) gene located at 17q22-24. The clinical picture is characterized by spotty skin pigmentation, cardiac, cutaneous, and mammary myxomas, melanocytic schwannomas, endocrinopathies, and tumours of the endocrine glands (mostly adrenal, pituitary, and thyroid). CASE PRESENTATION: A 10-year-old boy first came to our outpatient clinic due to severe obesity. During the first 3 months of follow-up, the height growth rate was normal, but the response to dietary-behavioural indications was poor in terms of weight loss. Later, 10 months after the last evaluation, there was evidence of significant worsening of obesity, growth failure (growth velocity 0.7 cm/year), arterial hypertension, and the occurrence of violaceous striae at the trunk and root of the limbs. Endocrinological causes of obesity associated with growth failure were investigated. The circadian rhythm of cortisol, ACTH, and cortisoluria were suggestive of ACTH-independent hypercortisolaemia. Iatrogenic causes were ruled out. Adrenal ultrasound and computer tomography scan were performed, which initially indicated the presence of a nodule or hyperplasia of the medial arm of the left adrenal gland. Conversely, magnetic resonance imaging showed a significant increase in the global dimensions of the adrenals with a bilateral micronodular appearance. In light of the association between ACTH-independent hypercortisolism and bilateral micronodular adrenal hyperplasia, a genetic investigation was performed, which found a pathogenic variant of the PRKAR1A gene. The patient was begun on treatment with metyrapone which was well tolerated over a 2-year period. The clinical picture has slightly improved, cortisoluria returned and remains within normal limits, but ACTH suppression persists. CONCLUSION: This is the first report on the clinical and biochemical effects of 2-year medical treatment with metyrapone of PPNAD-related hypercortisolaemia in a paediatric patient with CNC. Currently, there are no established protocols for the management of hypercortisolism in PPNAD and data are scarce, especially in the paediatric field. Medical therapies may play a role in reducing the need, at least initially, for patients to undergo bilateral adrenalectomy. However, further studies on larger case series are needed to clarify this aspect. In cases of CS due to PPNAD in which medical therapy was the initial approach, in the absence of clear clinical, auxological, and biochemical improvements, metyrapone may have to be discontinued in favour of another approach, including surgery.

14.
Clin Ther ; 46(2): 146-153, 2024 02.
Artigo em Inglês | MEDLINE | ID: mdl-38151406

RESUMO

PURPOSE: Turner syndrome (TS) is the most common sex chromosomal abnormality found in female subjects. It is a result of a partial or complete loss of one of the X chromosomes. Short stature is a hallmark of TS. Attainment of adult height (AH) within the normal range for height within the general female population represents the usual long-term goal of growth hormone (GH) treatment. The aim of this systematic review was to understand the efficacy of GH therapy on AH of patients with TS. METHODS: The literature review yielded for analysis 9 articles published from 2010 to 2021. Using the data from this literature search, the goal was to answer 5 questions: (1) What is the efficacy of GH on AH of girls with TS?; (2) Is AH influenced by the age at initiation of GH treatment?; (3) What is the optimal dose of GH to improve AH?; (4) Can the timing of either spontaneous or induced puberty influence AH?; and (5) Can the karyotype influence AH in patients with TS? FINDINGS: GH therapy and adequate dose could enable patients with TS to achieve appropriate AH compared with the possible final height without therapy. The greatest increase in height during GH therapy occurs in the prepubertal years, and if therapy is continued to AH, there is no further increase. Furthermore, karyotype did not show a predictive value on height prognosis and did not affect the outcome of GH administration or the height gain in girls with TS. IMPLICATIONS: Even if GH therapy is safe, close monitoring is indicated and recommended. Further evidence is needed to understand what other parameters may influence AH in patients undergoing GH therapy.


Assuntos
Hormônio do Crescimento Humano , Síndrome de Turner , Adulto , Humanos , Feminino , Hormônio do Crescimento Humano/uso terapêutico , Síndrome de Turner/tratamento farmacológico , Estatura , Cuidados Paliativos
15.
Children (Basel) ; 11(2)2024 Jan 28.
Artigo em Inglês | MEDLINE | ID: mdl-38397282

RESUMO

BACKGROUND: Despite the increasing interest in biologics for the management of allergic diseases, sparse real-world data are still available in the pediatric population. This study aimed to evaluate the early real-life efficacy and safety of omalizumab for patients with moderate-to-severe asthma and chronic spontaneous urticaria (CSU), and Dupilumab for patients with moderate-to-severe atopic dermatitis (AD). METHODS: A prospective study enrolling children aged 6-18 years was designed to assess the efficacy and safety of biologic drugs at 16 weeks of treatment (T1). The effectiveness was measured using validated questionnaires (ACQ-5 for asthma, UAS7 for CSU, and EASI score for AD). Secondary outcome measures included reductions in inhaled corticosteroid (ICS) dosages, asthma-related hospitalizations/exacerbations, and quality of life (QoL) indicators (iNRS, sNRS, DLQI/cDLQI) for CSU and AD. Safety was expressed according to the descriptions of adverse events provided by EMA and FDA. RESULTS: The study cohort consisted of eighteen children (mean age 12.9 ± 3.4 years). The omalizumab treatment significantly reduced ACQ-5 and UAS7 scores (p = 0.002 and p < 0.001, respectively). In patients with asthma, decreased ICS dosage and hospitalization/exacerbation rates were observed. QoL parameters significantly improved in CSU and AD patients. No severe adverse events were reported for either treatment. CONCLUSIONS: Our findings validate omalizumab and dupilumab as effective and safe therapeutic options for managing moderate-to-severe allergic diseases in children and adolescents.

16.
Ital J Pediatr ; 50(1): 83, 2024 Apr 23.
Artigo em Inglês | MEDLINE | ID: mdl-38650008

RESUMO

BACKGROUND: Atrophic autoimmune thyroiditis (AAT) is a rare phenotype of autoimmune thyroiditis (AT) in pediatric age. AAT occurs without thyroid enlargement leading to a delay in its diagnosis. Growth impairment is infrequent in autoimmune thyroiditis, if timely diagnosed. Prolonged severe hypothyroidism is a rare cause of pituitary hyperplasia (PH) in childhood. Loss of thyroxine negative feedback causes a TRH-dependent hyperplasia of pituitary thyrotroph cells resulting in adenohypophysis enlargement. A transdifferentiation of pituitary somatotroph cells into thyrotroph cells could explain growth failure in those patients. METHODS: Twelve patients were retrospectively evaluated at five Italian and Polish Centres of Pediatric Endocrinology for height growth impairment. In all Centres, patients underwent routine clinical, biochemical and radiological evaluations. RESULTS: At the time of first assessment, the 75% of patients presented height growth arrest, while the remaining ones showed growth impairment. The study of thyroid function documented a condition of hypothyroidism, due to AT, in the entire cohort, although all patients had no thyroid enlargement. Thyroid ultrasound showed frankly atrophic or normal gland without goiter. Cerebral MRI documented symmetrical enlargement of the adenohypophysis in all patients and a homogeneous enhancement of the gland after the administration of Gadolinium-DPTA. Replacement therapy with levothyroxine was started and patients underwent close follow-up every 3 months. During the 12 months of follow-up, an improvement in terms of height growth has been observed in 88% of patients who continued the follow-up. Laboratory findings showed normalization of thyroid function and the control brain MRI documented complete regression of PH to a volume within the normal range for age and sex. CONCLUSIONS: This is the largest pediatric cohort with severe autoimmune primary hypothyroidism without goiter, but with pituitary hyperplasia in which significant growth impairment was the most evident presenting sign. AAT phenotype might be correlated with this specific clinical presentation. In youths with growth impairment, hypothyroidism should always be excluded even in the absence of clear clinical signs of dysthyroidism.


Assuntos
Hiperplasia , Tireoidite Autoimune , Humanos , Criança , Masculino , Feminino , Estudos Retrospectivos , Tireoidite Autoimune/complicações , Adolescente , Transtornos do Crescimento/etiologia , Hipófise/patologia , Hipófise/diagnóstico por imagem , Itália , Imageamento por Ressonância Magnética , Pré-Escolar , Tiroxina/uso terapêutico , Seguimentos , Atrofia
17.
Nutrients ; 16(15)2024 Aug 02.
Artigo em Inglês | MEDLINE | ID: mdl-39125417

RESUMO

BACKGROUND: The increase in childhood obesity rates represents a serious public health problem. The project "EpPOI: Education to prevent childhood obesity" is aimed at a multidisciplinary approach to raise awareness of the importance of preventing childhood obesity through lifestyle education. METHODS: Two actions by experts were performed: an intervention with children in schools and a meeting for both parents and school staff. Participants completed a questionnaire structured as a Likert scale. RESULTS: The sample size was 96 people, and awareness of the childhood obesity problem as well as the need for obesity prevention was high among respondents. We also found great interest among participants in having more information on pediatric nutrition and physical activity, with a positive correlation with age. Furthermore, the multivariate regression model configured interest in having more information on nutrition and physical activity as an independent and statistically significant predictor of awareness of childhood obesity as a current issue. CONCLUSIONS: The results highlight the need to act on childhood obesity through lifestyle prevention strategies early in life.


Assuntos
Exercício Físico , Obesidade Infantil , Humanos , Obesidade Infantil/prevenção & controle , Obesidade Infantil/epidemiologia , Feminino , Masculino , Criança , Inquéritos e Questionários , Conhecimentos, Atitudes e Prática em Saúde , Educação em Saúde/métodos , Estilo de Vida , Adulto , Adolescente , Pais , Instituições Acadêmicas
18.
Front Endocrinol (Lausanne) ; 15: 1426021, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39363896

RESUMO

Background: Childhood obesity represents a major public health issue worldwide. Evidence showed the need to implement prevention strategies mainly focused on lifestyle habits. Sleep hygiene is a variable of great interest and this review systematically examined the effects of sleep duration in increasing childhood obesity risk. Methods: A systematic literature review was conducted from December 2023 to February 2024. Study selection and data extraction procedures were performed in accordance with Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) Guidelines and Statement, and risk of publication bias was assessed by the Effective Public Health Practice Project Quality Assessment Tool for Quantitative Studies. Results: Original works in English were eligible for review and eleven studies that met the inclusion criteria were included. Studies collected were heterogeneous in terms of duration, sample characteristics, hours of sleep manipulation, anthropometric and hematological parameters collected, therefore it was not possible to perform a meta-analysis. A narrative synthesis of the reported evidence highlighted the impact of sleep duration above all on food intake, eating habits and hormone levels and consequently on the risk of childhood obesity development. Conclusion: This finding suggests the need to consider sleep hygiene as a modifiable lifestyle habit like diet and physical activity, in order to early prevent childhood obesity. Poor sleep hygiene can significantly contribute to weight gain and exacerbation of metabolic disorders linked to childhood obesity. Although more rigorous studies are needed, clinicians need to be aware of the role of sleep hygiene in reducing childhood obesity risk.


Assuntos
Obesidade Infantil , Sono , Humanos , Obesidade Infantil/prevenção & controle , Criança , Sono/fisiologia , Estilo de Vida , Exercício Físico , Comportamento Alimentar , Higiene do Sono
19.
J Diabetes Sci Technol ; : 19322968231185115, 2023 Jul 11.
Artigo em Inglês | MEDLINE | ID: mdl-37431949

RESUMO

BACKGROUND: The aim of this single-center observational study was to assess the real-world performance of first- and second-generation automated insulin delivery (AID) systems in a cohort of children and adolescents with type 1 diabetes over a one-year follow-up. METHODS: Demographic, anamnestic, and clinical data of the study cohort were collected at the start of automatic mode. Data on continuous glucose monitoring metrics, system settings, insulin requirements, and anthropometric parameters at three different time points (start period, six months, 12 months) were retrospectively gathered and statistically analyzed. RESULTS: Fifty-four individuals (55.6% of females) aged 7 to 18 years switching to AID therapy were included in the analysis. Two weeks after starting automatic mode, subjects using advanced hybrid closed-loop (AHCL) showed a better response than hybrid closed-loop (HCL) users in terms of time in range (P = .016), time above range 180 to 250 mg/dl (P = .022), sensor mean glucose (P = .047), and glycemia risk index (P = .012). After 12 months, AHCL group maintained better mean sensor glucose (P = .021) and glucose management indicator (P = .027). Noteworthy, both HCL and AHCL users achieved the recommended clinical targets over the entire study period. The second-generation AID system registered longer time spent with automatic mode activated and fewer shifts to manual mode at every time point (P < .001). CONCLUSIONS: Both systems showed sustained and successful glycemic outcomes in the first year of use. However, AHCL users achieved tighter glycemic targets, without an increase of hypoglycemia risk. Improved usability of the device may also have contributed to optimal glycemic outcomes by ensuring better continuity of the automatic mode activation.

20.
Pathogens ; 12(3)2023 Mar 02.
Artigo em Inglês | MEDLINE | ID: mdl-36986325

RESUMO

Autoimmune-Poly-Endocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED), caused by mutations in the Autoimmune Regulator (AIRE) gene, is an autosomal recessive multi-organ autoimmunity syndrome usually defined by high serum titers of type I Interferon Autoantibodies (Type 1 IFN-Abs). These antibodies have recently been found in individuals in the general population who develop life-threatening Coronavirus Disease 2019 (COVID-19), but the significance of pre-existing Type 1 IFN-Abs in APECED patients with COVID-19 remains unclear. Previous reports of COVID-19 outcomes in APECED patients have been divergent, and protective roles have been proposed for female sex, age <26 years, and immunomodulatory medications including intravenous immunoglobulin (IVIg). We report the case of a 30-year-old male APECED patient who experienced a Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) infection with mild symptoms of fatigue and headache without respiratory distress and did not require hospitalization. He received a stress dose of hydrocortisone for adrenal insufficiency and continued on his baseline medications, including subcutaneous administration of Immunoglobulins (SCIgs) for chronic inflammatory demyelinating polyneuropathy (CIDP). Mild COVID-19 in a 30-year-old male patient with APECED and pre-existing Type 1 IFN-Abs was unexpected. Younger age and management of autoimmunity may have played a role.

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