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1.
EClinicalMedicine ; 39: 101067, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34430836

RESUMO

BACKGROUND: The Italian Lombardy region has been the epicenter of COVID-19 since February 2020. This study analyses the epidemiology of pediatric type 1 diabetes (T1D) onset during the first two pandemic waves and three previous years. METHODS: All the 13 pediatric diabetes centers in Lombardy prospectively evaluated charts of children at T1D onset (0-17 years), during year 2020. After calculating the annual incidence, the data were compared with those of the 3 previous years, using generalized linear models, adjusted for age and sex. Monthly T1D new onsets and diabetic ketoacidosis (DKA) were investigated yearly from 2017 to 2020. Data were extracted from outpatients charts of the pediatric diabetes centers and from the database of the national institute of statistics. FINDINGS: The estimated incidence proportion of T1D was 16/100·000 in 2020, compared to 14, 11 and 12 in 2019, 2018 and 2017, respectively. When adjusting for age and gender, the incidence was significantly lower in 2018 and 2017 compared to 2020 (adjusted incidence ratio: 0.73 and 0.77 respectively, with 95% CI: 0.63 to 0.84, and 0.67 to 0.83; p = 0·002 and p = 0·01), but no difference was found between the years 2020 and 2019. A reduction trend in the percentage of T1D diagnosis during the first wave (March-April) over the total year diagnoses was observed compared to previous years (11·7% in 2020, 17·7% in 2019, 14·1% in 2018 and 14·4% 2017). No difference was observed during the second wave (October-December) (32·8% in 2020, 33·8% in 2019, 34% in 2018, 30·7% in 2017). The proportion of DKA over the total T1D diagnoses during the second wave had higher trend than the first one (41·7% vs 33·3%), while severe DKA over the total DKA appeared higher during the first wave (60% vs 37·1%). INTERPRETATION: The study suggests an increase in the incidence of pediatric T1D in Lombardy throughout the past five years. Pandemic waves may have affected the clinical presentation at onset. FUNDING: None.

2.
Front Med (Lausanne) ; 8: 621668, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33718402

RESUMO

Acute rheumatic fever (ARF) is a non-septic complication of group A ß-hemolytic streptococcal (GAS) throat infection. Since 1944, ARF diagnosis relies on the Jones criteria, which were periodically revised. The 2015 revision of Jones criteria underlines the importance of knowing the epidemiological status of its own region with updated data. This study aims to describe ARF features in a retrospective cohort retrieved over a 10-year timespan (2009-2018) and to report the annual incidence of ARF among children in the Province of Monza-Brianza, Lombardy, Italy during the same period. This is a multicentric cross-sectional/retrospective study; 70 patients (39 boys) were diagnosed with ARF. The median age at diagnosis was 8.5 years (range, 4-14.2 years). Overall, carditis represented the most reported major Jones criteria followed by arthritis and chorea (40, 27, and 20 cases, respectively). In order to calculate the annual incidence of ARF, only children resident in the Province of Monza-Brianza were included in this part of the analysis. Therefore, 47 patients aged between 5 and 14 years were identified. The median incidence during the study time was 5.7/100,000 (range, 2.8-8.3/100,000). In the Province of Monza-Brianza, we found an incidence rate of ARF among children aged 5-14 years constantly above the threshold of low-risk area as defined in the 2015 revision of Jones criteria. Therefore, the diagnosis of ARF should be based on the moderate-high-risk set of Jones criteria. However, given the burden of secondary prophylaxis, expert opinion is advisable when the diagnosis of ARF is uncertain.

3.
G Ital Cardiol (Rome) ; 17(3): 234-6, 2016 Mar.
Artigo em Italiano | MEDLINE | ID: mdl-27029882

RESUMO

A Turkish female infant of 96 days was admitted to the pediatric emergency room because of inconsolable crying, persistent cough, and difficulty in feeding during the previous day. She was conscious and did not show any signs or symptoms of multiorgan failure. A few minutes afterwards, the child experienced cardiac arrest with an initial cardiac rhythm of asystole and died 75 minutes later following cardiopulmonary resuscitation maneuvers. As the pathological cause of death, autopsy findings revealed a rare type of idiopathic infantile arterial calcification resulting from a mutation in the gene encoding for the ENPP1 enzyme.


Assuntos
Reanimação Cardiopulmonar/efeitos adversos , Serviço Hospitalar de Emergência , Parada Cardíaca/etiologia , Mutação , Diester Fosfórico Hidrolases/genética , Pirofosfatases/genética , Calcificação Vascular/complicações , Calcificação Vascular/diagnóstico , Artérias/patologia , Biomarcadores/sangue , Evolução Fatal , Feminino , Humanos , Lactente , Doenças Raras , Calcificação Vascular/genética
4.
Clin Endocrinol (Oxf) ; 76(6): 843-50, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22150958

RESUMO

OBJECTIVE: A recent study evidenced by metyrapone test a central adrenal insufficiency (CAI) in 60% of Prader-Willi syndrome (PWS) children. These results were not confirmed in investigations with low [Low-Dose Tetracosactrin Stimulation Test (LDTST), 1 µg] or standard-dose tetracosactrin stimulation tests. We extended the research by LDTST in paediatric patients with PWS. DESIGN: Cross-sectional evaluation of adrenal stress response to LDTST in a PWS cohort of a tertiary care referral centre. PATIENTS: Eighty-four children with PWS. MEASUREMENTS: Assessment of adrenal response by morning cortisol and ACTH dosage, and 1-µg tetracosactrin test. Response was considered appropriate when cortisol reached 500 nm; below this threshold, patients were submitted to a second test. Responses were correlated with the patients' clinical and molecular characteristics to assess genotype-phenotype correlation. RESULTS: Pathological cortisol peak responses to the LDTST were registered in 12 patients (14.3%) who had reduced basal (169.4 ± 83.3 nm) and stimulated (428.1 ± 69.6 nm) cortisol levels compared to patients with normal responses (367.1 ± 170.6 and 775.9 ± 191.3 nm, P < 0.001). Body mass index standard deviation score was negatively correlated with basal and peak cortisol levels (both P < 0.001), and the patients' ages (P < 0.001). In patients with deletion on chromosome 15, the cortisol peak was significantly lower than that in uniparental disomy (UPD) cases (P = 0.030). At multiple regression analysis, the predictors of peak response were basal cortisol, age, and UPD subclass (r(2) = 0.353, P < 0.001). Standard-dose (250 µg) tetracosactrin test confirmed CAI in 4/12 patients (4.8% of the cohort). CONCLUSIONS: Our results support the hypothesis that, albeit rare, CAI may be part of the PWS in childhood.


Assuntos
Insuficiência Adrenal/fisiopatologia , Síndrome de Prader-Willi/fisiopatologia , Adolescente , Insuficiência Adrenal/sangue , Hormônio Adrenocorticotrópico/sangue , Índice de Massa Corporal , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Hidrocortisona/sangue , Lactente , Recém-Nascido , Masculino , Síndrome de Prader-Willi/sangue , Análise de Regressão
5.
Clin Dysmorphol ; 17(1): 35-39, 2008 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-18049079

RESUMO

Silver-Russell syndrome (SRS) is clinically variable although most cases have several common signs. Different chromosomes and chromosomal regions have been associated with SRS. Maternal uniparental disomy (UPD) of chromosome 7 is responsible for 5-10% of cases, probably because of an imbalance between maternal and paternal imprinted genes and more recently maternal duplication or epimutations in the 11p15 imprinted region have been described. To date, only two patients with maternal UPD7 and a mosaic condition for a supernumerary ring 7 marker have been reported, and we here report a further case. Standard QFQ banding of lymphocytes as well as fluorescence in-situ hybridization analyses were performed to identify and characterize the supernumerary marker. UPD testing was performed on both the patient's and parents' DNA using chromosome 7 microsatellite markers. The patient demonstrated a ring in about 4% of the analysed cells. On the basis of cytogenetic and molecular results, break points were tentatively identified as 7p11.2 and 7q21. Maternal hetero-/iso-UPD and a paternal origin for the supernumerary ring were demonstrated. Clinical data comparison between our patient who has a SRS phenotype and cases with hetero-/iso-UPD7 mat and mosaicism for a paternally derived chromosome 7 ring and previously reported ring 7 cases suggest that the SRS phenotype is probably because of the UPD rather than to the partial trisomy.


Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos Par 7 , Dissomia Uniparental , Criança , Humanos , Hibridização in Situ Fluorescente , Lactente , Cariotipagem , Masculino , Síndrome
6.
Arch Ital Urol Androl ; 76(3): 143-6, 2004 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-15568308

RESUMO

Congenital adrenal hyperplasia (CAH) is an autosomal recessive condition characterized by an insufficient production of cortisol and mineraloactive hormones with a consequent hyperstimulation of hypothalamo-pituitary-adrenal feedback and an increase of androgens. Although the lack of different enzymes in adrenal steroidogenesis can be responsible for different forms of the disease, the deficiency of 21-hydroxylase is the more frequent defect. It is caused by mutations in CYP21 gene located on the short arm of chromosome 6 and it causes a heterogeneous phenotype characterized by a classical form (genitalia virilization in female, early onset acute adrenal insufficiency with salt wasting, precocious pseudopuberty, signs of hyperandrogenism), or by a simple virilizing form (presence of signs of hyperandrogenism without salt-loosing crises) or by a non-classic form evidenced only by mild to moderate signs of hyperandrogenism. The diagnosis can be made by 17-hydroxyprogesterone measurement in basal and after ACTH stimulation test. Glucocorticoid and mineraloactive therapy have been proved to reduce the risk of adrenal crisis reducing the levels of androgens and controlling the symptoms of the disease.


Assuntos
Hiperplasia Suprarrenal Congênita , Hiperplasia Suprarrenal Congênita/diagnóstico , Hiperplasia Suprarrenal Congênita/terapia , Humanos
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