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1.
Children (Basel) ; 9(12)2022 Dec 08.
Artículo en Inglés | MEDLINE | ID: mdl-36553370

RESUMEN

Lockdown during the COVID-19 pandemic had a significant psychological impact on children and adolescents. This study compared lockdown effects on children aged 1-10 years in 2020 and 2021. Two structured questionnaires were administered to 3392 parents in 2020, and 3203 in 2021. Outcomes considered for the data analysis included sleep changes, episodes of irritability, attention disturbances, distance learning and number of siblings. For data analysis, children were divided into two groups: pre-scholar (1-5 years old) and older ones. The lockdown was associated with a significant increase in sleep disturbances in 2020 and persisted after a year. The high prevalence of mood changes persisted unchanged in children under the age of 10 in 2020 and in 2021. Even if strengthened family ties seemed to mitigate the negative impact of lockdowns in 2020, this effect appeared absent or at least reduced in 2021. Irritability and rage in children were perceived to have increased in 2021 compared to 2020. A significant reduction in digital device use was observed in 2021 compared to 2020. Overall, the most harmful consequences of the lockdown in 2020 were still observed in 2021. Further studies are needed to analyze possible psychological effects that the generation who experienced the pandemic during early childhood may have, particularly in their future adolescence, in order to identify possible intervention practices to support families.

2.
Ital J Pediatr ; 47(1): 203, 2021 Oct 11.
Artículo en Inglés | MEDLINE | ID: mdl-34635133

RESUMEN

BACKGROUND: The COVID-19 pandemic and the subsequent national lockdowns, school closures and distance learning may have had both negative and positive effects on physical and mental health of children. METHODS: A cross-sectional study was conducted on a large group of children between 1 and 10 years old in Lombardy, Italy (n = 3392). Their parents filled in a survey answering single or multiple-choice questions about their offspring's behavior changes (including sleep, dietary habits, emotional disturbances), relationship with siblings, parents and peers, the use of digital technologies, and distance learning experience during the lockdown. RESULTS: Parents reported lifestyles and emotional alterations during the lockdown. The modifications of family relationships, parents' remote working, and screen time were associated with sleep, emotional and behavioral modifications. Distance learning was overall considered adequate. CONCLUSIONS: This study reported the most updated data on the effects of COVID-19 pandemic lockdown on children between 1 and 10 years of age in a large sample of Italian schoolchildren. The results of this study point out that pediatricians and authorities should support relationships within families during the COVID-19 pandemic. Parents' remote working might play an important role for this purpose.


Asunto(s)
COVID-19/epidemiología , Educación a Distancia , Tecnología Educacional , Estilo de Vida , Niño , Preescolar , Estudios Transversales , Femenino , Humanos , Lactante , Italia/epidemiología , Masculino , Pandemias , SARS-CoV-2
3.
Invest Ophthalmol Vis Sci ; 62(2): 13, 2021 02 01.
Artículo en Inglés | MEDLINE | ID: mdl-33576794

RESUMEN

Purpose: To describe the molecular epidemiology of nonsyndromic retinitis pigmentosa (RP) and Usher syndrome (US) in Italian patients. Methods: A total of 591 probands (315 with family history and 276 sporadics) were analyzed. For 155 of them, we performed a family segregation study, considering a total of 382 relatives. Probands were analyzed by a customized multigene panel approach. Sanger sequencing was used to validate all genetic variants and to perform family segregation studies. Copy number variants of selected genes were analyzed by multiplex ligation-dependent probe amplification. Four patients who tested negative to targeted next-generation sequencing analysis underwent clinical exome sequencing. Results: The mean diagnostic yield of molecular testing among patients with a family history of retinal disorders was 55.2% while the diagnostic yield including sporadic cases was 37.4%. We found 468 potentially pathogenic variants, 147 of which were unpublished, in 308 probands and 66 relatives. Mean ages of onset of the different classes of RP were autosomal dominant RP, 19.3 ± 12.6 years; autosomal recessive RP, 23.2 ± 16.6 years; X-linked RP, 13.9 ± 9.9 years; and Usher syndrome, 18.9 ± 9.5 years. We reported potential new genotype-phenotype correlations in three probands, two revealed by TruSight One testing. All three probands showed isolated RP caused by biallelic variants in genes usually associated with syndromes such as PERCHING and Senior-Loken or with retinal dystrophy, iris coloboma, and comedogenic acne syndrome. Conclusions: This is the largest molecular study of Italian patients with RP in the literature, thus reflecting the epidemiology of the disease in Italy with reasonable accuracy.


Asunto(s)
Proteínas de la Matriz Extracelular/genética , Mutación , Retinitis Pigmentosa/genética , Síndromes de Usher/genética , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Análisis Mutacional de ADN , Proteínas de la Matriz Extracelular/metabolismo , Femenino , Estudios de Seguimiento , Estudios de Asociación Genética , Pruebas Genéticas , Humanos , Incidencia , Italia/epidemiología , Masculino , Persona de Mediana Edad , Epidemiología Molecular , Linaje , Fenotipo , Retinitis Pigmentosa/epidemiología , Retinitis Pigmentosa/metabolismo , Estudios Retrospectivos , Síndromes de Usher/epidemiología , Síndromes de Usher/metabolismo , Secuenciación del Exoma , Adulto Joven
4.
Chest ; 129(4): 844-52, 2006 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-16608929

RESUMEN

STUDY OBJECTIVES: To evaluate whether office spirometry by general practitioners (GPs) is feasible and may improve the diagnosis of asthma and COPD. METHODS: A prospective, randomized, comparative trial was planned involving 57 Italian pulmonology centers and 570 GPs who had to enroll consecutive subjects aged 18 to 65 years with symptoms of asthma or COPD without a previous diagnosis. Patients were randomized 1:1 into two groups with an interactive voice responding system: conventional evaluation alone vs conventional evaluation and spirometry. Office spirometry was performed by GPs who were trained by reference specialists using a portable electronic spirometer (Spirobank Office; MIR; Rome, Italy). Diagnosis was confirmed by the reference specialist center in blind fashion. RESULTS: Seventy-four GPs complied to the trial. Of 333 patients enrolled, 136 nonrandom violators completed the protocol. Per-protocol analysis showed a concordant diagnosis between GPs and specialists in 78.6% of cases in the conventional evaluation-plus-spirometry group vs 69.2% in the conventional evaluation group (p = 0.35). In the intention-to-treat analysis, the respective percentages of concordant diagnosis were 57.9 and 56.7 (p = 0.87). CONCLUSIONS: Office spirometry by GPs is feasible, but frequent protocol violation and inadequate sample size did not allow us to prove a significant advantage of office spirometry in improving the diagnosis of asthma and COPD in standard general practice as organized at present in Italy, thus reinforcing the need for close cooperation between GPs and specialists in respiratory medicine.


Asunto(s)
Asma/diagnóstico , Medicina Familiar y Comunitaria , Enfermedad Pulmonar Obstructiva Crónica/diagnóstico , Espirometría , Adulto , Anciano , Estudios de Factibilidad , Femenino , Humanos , Italia , Masculino , Persona de Mediana Edad , Visita a Consultorio Médico , Estudios Prospectivos
5.
Respir Med ; 103(6): 866-72, 2009 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-19200705

RESUMEN

INTRODUCTION: Spirometry may reveal pre-clinical abnormal airway function in asymptomatic subjects and allow a better definition of severity in clinically diagnosed asthma and COPD. The hypothesis of this study was that telespirometry might increase the diagnostic accuracy of asthma and COPD. METHODS: In the Italian "Alliance" study, 638 general practitioners (GPs) were trained to perform telespirometry and were asked to enroll the following categories of subjects: (a) current or ex-smokers without respiratory symptoms; (b) subjects with respiratory symptoms but without a pre-existing diagnosis of asthma or COPD; (c) subjects with a pre-existing clinical diagnosis of asthma; and (d) subjects with a pre-existing clinical diagnosis of COPD. Subjects completed a case report form (CRF) and performed telespirometry in the GP's office. Traces were sent by telephone to a Telespirometry Central Office, where they were interpreted by a pulmonary specialist, according to appropriately defined criteria. The results were returned in real time to the GP. RESULTS: Overall, 9312 subjects were recruited and 7262 (78%) performed an acceptable telespirometric examination and the CRF. In the asymptomatic group, 340/1437 (24%) of the telespirometries were abnormal (147 with moderate-to-severe airway obstruction, i.e. FEV(1) <80% of predicted). Among symptomatic subjects, 1433/3725 (38%) had abnormal telespirometries (682 with moderate-to-severe obstruction). Of the asthmatic subjects, 336/1285 (26%) had moderate-to-severe airway obstruction, while telespirometry was normal in 184/815 (23%) of the COPD group. CONCLUSION: Telespirometry, performed in a GP's office, can aid the diagnosis of obstructive airway diseases and could help GPs to better manage airway obstruction.


Asunto(s)
Medicina Familiar y Comunitaria/métodos , Enfermedades Pulmonares Obstructivas/diagnóstico , Consulta Remota , Fumar/efectos adversos , Adulto , Anciano , Medicina Familiar y Comunitaria/educación , Femenino , Humanos , Italia , Masculino , Persona de Mediana Edad , Atención Primaria de Salud , Índice de Severidad de la Enfermedad , Espirometría/métodos
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