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1.
BMC Pediatr ; 21(1): 358, 2021 08 24.
Artículo en Inglés | MEDLINE | ID: mdl-34429086

RESUMEN

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.


Asunto(s)
Enfermedad de Hodgkin , Nacimiento Prematuro , Compresión de la Médula Espinal , Adolescente , Niño , Diagnóstico Tardío , Femenino , Enfermedad de Hodgkin/complicaciones , Enfermedad de Hodgkin/diagnóstico , Humanos , Recién Nacido , Embarazo , Compresión de la Médula Espinal/diagnóstico por imagen , Compresión de la Médula Espinal/etiología , Vértebras Torácicas/diagnóstico por imagen
2.
Pediatr Allergy Immunol ; 31 Suppl 26: 11-13, 2020 11.
Artículo en Inglés | MEDLINE | ID: mdl-33236435

RESUMEN

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.


Asunto(s)
Desensibilización Inmunológica , Hipersensibilidad a los Alimentos , Adyuvantes Inmunológicos , Alérgenos , Biomarcadores , Humanos
3.
Pediatr Blood Cancer ; 67(9): e28300, 2020 09.
Artículo en Inglés | MEDLINE | ID: mdl-32614144

RESUMEN

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.


Asunto(s)
Adenoma Oxifílico/epidemiología , Glándula Tiroides/patología , Neoplasias de la Tiroides/epidemiología , Adenoma Oxifílico/complicaciones , Adolescente , Niño , Femenino , Enfermedad de Hashimoto/complicaciones , Humanos , Masculino , Neurofibromatosis 1/complicaciones , Osteosarcoma/complicaciones , Estudios Retrospectivos , Pruebas de Función de la Tiroides , Neoplasias de la Tiroides/complicaciones , Adulto Joven
4.
New Microbiol ; 42(1): 43-48, 2019 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-30957869

RESUMEN

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.


Asunto(s)
Brucella melitensis , Brucelosis , Brotes de Enfermedades , Animales , Brucelosis/complicaciones , Brucelosis/epidemiología , Brotes de Enfermedades/estadística & datos numéricos , Farmacorresistencia Bacteriana , Humanos , Estudios Retrospectivos , Factores de Riesgo , Sicilia
5.
New Microbiol ; 41(4)2018 Oct 12.
Artículo en Inglés | MEDLINE | ID: mdl-30311622

RESUMEN

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.
Artículo en Inglés | MEDLINE | ID: mdl-27322255

RESUMEN

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.


Asunto(s)
Tuberculosis Resistente a Múltiples Medicamentos/epidemiología , Tuberculosis Pulmonar/epidemiología , Adolescente , Instituciones de Atención Ambulatoria/estadística & datos numéricos , Antituberculosos/uso terapéutico , Niño , Preescolar , Femenino , Hospitales Pediátricos/estadística & datos numéricos , Humanos , Lactante , Italia , Masculino , Sistema de Registros/estadística & datos numéricos , Tuberculosis Resistente a Múltiples Medicamentos/diagnóstico , Tuberculosis Resistente a Múltiples Medicamentos/tratamiento farmacológico , Tuberculosis Pulmonar/diagnóstico , Tuberculosis Pulmonar/tratamiento farmacológico
7.
Minerva Pediatr ; 68(2): 152-4, 2016 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-24825480

RESUMEN

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.


Asunto(s)
Craneofaringioma/diagnóstico por imagen , Enfermedad de Hashimoto/diagnóstico , Neoplasias Hipofisarias/diagnóstico por imagen , Tirotropina/deficiencia , Estatura , Enfermedad Celíaca/complicaciones , Niño , Craneofaringioma/patología , Femenino , Estudios de Seguimiento , Humanos , Imagen por Resonancia Magnética , Neoplasias Hipofisarias/patología
8.
Minerva Pediatr ; 68(3): 226-9, 2016 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-25502918

RESUMEN

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.


Asunto(s)
Autoanticuerpos/inmunología , Poliendocrinopatías Autoinmunes/fisiopatología , Enfermedades Gastrointestinales/etiología , Enfermedades Gastrointestinales/inmunología , Humanos , Enfermedades Pulmonares/etiología , Enfermedades Pulmonares/inmunología , Debilidad Muscular/etiología , Debilidad Muscular/inmunología , Poliendocrinopatías Autoinmunes/inmunología , Polineuropatías/etiología , Polineuropatías/inmunología
10.
J Immunol ; 188(10): 4906-12, 2012 May 15.
Artículo en Inglés | MEDLINE | ID: mdl-22490868

RESUMEN

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.


Asunto(s)
Tolerancia Inmunológica , Proteína P0 de la Mielina/deficiencia , Mutación Puntual , Polirradiculoneuropatía Crónica Inflamatoria Desmielinizante/inmunología , Factores de Transcripción/deficiencia , Factores de Transcripción/genética , Secuencia de Aminoácidos , Animales , Autoanticuerpos/sangre , Modelos Animales de Enfermedad , Femenino , Humanos , Tolerancia Inmunológica/genética , Ratones , Ratones Endogámicos NOD , Ratones Mutantes , Ratones SCID , Datos de Secuencia Molecular , Proteína P0 de la Mielina/genética , Proteína P0 de la Mielina/fisiología , Polirradiculoneuropatía Crónica Inflamatoria Desmielinizante/sangre , Polirradiculoneuropatía Crónica Inflamatoria Desmielinizante/genética , Factores de Transcripción/fisiología , Proteína AIRE
11.
Children (Basel) ; 11(2)2024 Jan 28.
Artículo en Inglés | MEDLINE | ID: mdl-38397282

RESUMEN

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.

12.
Clin Ther ; 46(2): 146-153, 2024 02.
Artículo en Inglés | MEDLINE | ID: mdl-38151406

RESUMEN

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.


Asunto(s)
Hormona de Crecimiento Humana , Síndrome de Turner , Adulto , Humanos , Femenino , Hormona de Crecimiento Humana/uso terapéutico , Síndrome de Turner/tratamiento farmacológico , Estatura , Cuidados Paliativos
13.
Ital J Pediatr ; 50(1): 98, 2024 May 15.
Artículo en Inglés | MEDLINE | ID: mdl-38750561

RESUMEN

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?


Asunto(s)
Adiposidad , Índice de Masa Corporal , Humanos , Adiposidad/fisiología , Femenino , Niño , Masculino , Obesidad Infantil/epidemiología , Factores de Riesgo , Preescolar , Embarazo , Recién Nacido
14.
Children (Basel) ; 11(5)2024 Apr 30.
Artículo en Inglés | MEDLINE | ID: mdl-38790534

RESUMEN

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.

15.
Ital J Pediatr ; 50(1): 83, 2024 Apr 23.
Artículo en Inglés | MEDLINE | ID: mdl-38650008

RESUMEN

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.


Asunto(s)
Hiperplasia , Tiroiditis Autoinmune , Humanos , Niño , Masculino , Femenino , Estudios Retrospectivos , Tiroiditis Autoinmune/complicaciones , Adolescente , Trastornos del Crecimiento/etiología , Hipófisis/patología , Hipófisis/diagnóstico por imagen , Italia , Imagen por Resonancia Magnética , Preescolar , Tiroxina/uso terapéutico , Estudios de Seguimiento , Atrofia
16.
Genes (Basel) ; 14(8)2023 08 16.
Artículo en Inglés | MEDLINE | ID: mdl-37628683

RESUMEN

BACKGROUND: Disorders/Differences of sex development (DSD) are often due to disruptions of the genetic programs that regulate gonad development. The GATA-4 gene, located on chromosome 8p23.1, encodes GATA-binding protein 4 (GATA-4), a transcription factor that is essential for cardiac and gonadal development and sexual differentiation. CASE DESCRIPTION: A child with a history of micropenis and cryptorchidism. At 8 years of age, he came under our observation for an increase in sexual pubic hair (pubarche). The laboratory parameters and the GnRH test suggested a central precocious puberty (CPP). Treatment with GnRH analogs was started, and we decided to perform genetic tests for DSD. The NGS genetic investigation showed a novel and heterozygous variant in the GATA-4 gene. DISCUSSION: In the literature, 26 cases with 46,XY DSD due to the GATA4 gene were reported. CONCLUSION: The novel variant in the GATA-4 gene of our patient was not previously associated with DSD. This is the first case of a DSD due to a GATA-4 mutation that develops precocious puberty. Precocious puberty could be associated with DSD and considered a prelude to hypogonadism in some cases.


Asunto(s)
Trastornos del Desarrollo Sexual , Pubertad Precoz , Masculino , Niño , Humanos , Pubertad Precoz/genética , Desarrollo Sexual/genética , Mutación , Trastornos del Desarrollo Sexual/genética , Hormona Liberadora de Gonadotropina
17.
J Diabetes Sci Technol ; : 19322968231185115, 2023 Jul 11.
Artículo en Inglés | MEDLINE | ID: mdl-37431949

RESUMEN

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.

18.
Ital J Pediatr ; 49(1): 58, 2023 May 20.
Artículo en Inglés | MEDLINE | ID: mdl-37210518

RESUMEN

BACKGROUND: Diabetic ketoacidosis (DKA) is one of the most alarming concerns in the management of type 1 diabetes (T1D) in pediatric age. Prevalence of DKA at the onset of diabetes ranges from 30 to 40%. In selected cases of severe DKA, admission to pediatric intensive care unit (PICU) should be considered. METHODS: This study aims to assess the prevalence of severe DKA treated in PICU in our 5-year monocentric experience. Secondary outcome of the study was to describe the main demographical and clinical features of individuals who required admission to PICU. All clinical data were collected by retrospectively reviewing the electronic medical records of children and adolescents with diabetes hospitalized in our University Hospital from January 2017 to December 2022. RESULTS: During the study period, 103 children and adolescents were newly diagnosed with T1D. Among these, 51.5% presented clinical criteria for DKA and almost 10% needed to be treated in PICU. A higher rate of new T1D diagnoses was observed in 2021, as well as episodes of severe DKA being more frequent than in previous years. Due to severe clinical manifestations of DKA, 10 subjects (9.7%) with T1D onset needed to be treated in PICU. Of these, four children were younger than 5. The great majority came from a low household income and some of them had also immigrant background. The most common complication of DKA was acute kidney injury presented by four children. Other complications were cerebral edema, papilledema and acute esophageal necrosis. A 15-year-old girl had deep vein thrombosis (DVT) that evolved into multiple organ failure leading to death. CONCLUSIONS: Our findings demonstrated that severe DKA is still quite common in children and adolescents at T1D onset, especially in some areas such as Southern Italy. Public awareness campaigns should be increasingly promoted to facilitate the recognition of early symptoms of diabetes and to reduce morbidity and mortality related to DKA.


Asunto(s)
Diabetes Mellitus Tipo 1 , Cetoacidosis Diabética , Femenino , Adolescente , Niño , Humanos , Cetoacidosis Diabética/diagnóstico , Cetoacidosis Diabética/epidemiología , Cetoacidosis Diabética/terapia , Diabetes Mellitus Tipo 1/complicaciones , Diabetes Mellitus Tipo 1/diagnóstico , Diabetes Mellitus Tipo 1/epidemiología , Estudios Retrospectivos , Prevalencia , Unidades de Cuidado Intensivo Pediátrico
19.
Pathogens ; 12(3)2023 Mar 02.
Artículo en Inglés | MEDLINE | ID: mdl-36986325

RESUMEN

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.

20.
Endocrine ; 2023 Nov 20.
Artículo en Inglés | MEDLINE | ID: mdl-37982947

RESUMEN

PURPOSE: Juvenile Idiopathic Arthritis (JIA) is a chronic inflammatory disease characterized by chronic synovitis, sometimes associated with fever, rash, pericarditis and uveitis. Limited data are available concerning autoimmune diseases associated with JIA in childhood. THE AIMS OF OUR STUDY WERE: (a) evaluating the thyroid function in a group of Italian children affected by JIA; (b) identifying which Autoimmune Thyroid Diseases (ATDs) are related to JIA in this population. METHODS: A population of 51 patients with JIA was investigated. Each patient enrolled was evaluated clinically (family history for Autoimmune Diseases (ADs), personal history and physical examination). In the sample were evaluated thyroid function, inflammation's index and anti-thyroid antibodies. RESULTS: The 68.6% (35) of our patients had the oligoarticular form, 27.5% (14) had the polyarticular one, 2% (1) had systemic onset and 2% (1) had undifferentiated arthritis. We focused our attention on the differences between the first two forms. We did not find any difference on the gender prevalence (p > 0.05). A higher presence of anti-TPO antibodies was found in the polyarticular form, with a significant difference with the oligoarticular one (p = 0.032). We researched the anti-hTG antibodies (p > 0.05) and ANA for each group (p > 0.05). We found a significant prevalence of family history for ADs in the polyarticular form (p < 0.05). CONCLUSION: Our findings show the necessity to focus on thyroid function in patients with JIA. Although the oligoarticular form is the most frequent, the polyarticular form shows a higher frequency of thyroid function's alteration. This suggests the need for specific attention in polyarticular form.

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