Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 34
Filtrar
Mais filtros

Base de dados
País/Região como assunto
Tipo de documento
País de afiliação
Intervalo de ano de publicação
1.
Sleep Breath ; 2024 Jun 06.
Artigo em Inglês | MEDLINE | ID: mdl-38842644

RESUMO

PURPOSE: Patients with syndromic hemifacial microsomia (SHFM) are at risk of obstructive sleep apnea (OSA). The aim of the study was to describe the prevalence of OSA and its management, especially in patients with Goldenhar syndrome (GS). METHODS: The respiratory polygraphies and clinical management of 15 patients, aged 2 to 23 years, evaluated at a national reference center, were analyzed. RESULTS: Four (27%) patients had no OSA, 4 (27%) had mild OSA, and 7 (46%), of whom 5 were ≤ 2 years old, had severe OSA. None of the patients had central apneas. Only one patient had alveolar hypoventilation, and another one had nocturnal hypoxemia. Two patients had severe OSA despite prior adenoidectomy or mandibular distraction osteogenesis. Median duration of follow-up was 3.5 years (range 0.5-9 years). None of the patients without OSA or with mild OSA at baseline respiratory polygraphy developed OSA during the follow up. Among the 7 patients with severe OSA, 3 required continuous positive airway pressure or noninvasive ventilation, and one patient required a tracheostomy. CONCLUSION: In conclusion, patients with SHFM are at high risk of severe OSA at any age, underlining the importance of systematic sleep studies to diagnose and evaluate the severity of OSA. Individualized treatment should be privileged, based on a careful examination of the entire upper airway, taking in account potential associated risk factors. All patients with SHFM should be managed by a pediatric expert multidisciplinary medical/surgical team until the end of post pubertal growth.

2.
Am J Med Genet A ; 182(12): 2982-2987, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-32954625

RESUMO

Rett syndrome (RTT, MIM * 312750) is an X-linked neurodevelopmental disorder caused by pathogenic variants at the Xq28 region involving the gene methyl-CpG-binding protein 2 (MECP2, MIM * 300005). The spectrum of MECP2-related phenotypes is wide and it ranges from asymptomatic female carriers to severe neonatal-onset encephalopathy in males. Abnormal breathing represents one of the leading features, but today little is known about polysomnographic features in RTT females; no data are available about males. We report the case of a male of Moroccan origins with a MECP2 pathogenic variant and a history of encephalopathy and severe breathing disturbances in the absence of dysmorphic features. For the first time we describe in detail the polysomnographic characteristics of a MECP2-mutated male and we show the relevance of severe central apneas, which may represent a new clinical clue to suggest the diagnosis. Moreover, we want to highlight the importance to maintain a high index of suspicion for MECP2-related disorders in the presence of severe hypotonia, apneic crises, and respiratory insufficiency in males to permit an earlier diagnosis and the consequent definition of recurrence risk of the family and to avoid other useless and invasive exams.


Assuntos
Hipoventilação/patologia , Proteína 2 de Ligação a Metil-CpG/genética , Mutação , Fenótipo , Síndromes da Apneia do Sono/patologia , Humanos , Hipoventilação/complicações , Hipoventilação/genética , Recém-Nascido , Masculino , Síndromes da Apneia do Sono/complicações , Síndromes da Apneia do Sono/genética
3.
BMC Infect Dis ; 16: 12, 2016 Jan 12.
Artigo em Inglês | MEDLINE | ID: mdl-26753924

RESUMO

BACKGROUND: The main aim of this study was to evaluate Streptococcus pneumoniae carriage in a group of school-aged children and adolescents with asthma because these results might indicate the theoretical risk of invasive pneumococcal disease (IPD) of such patients and the potential protective efficacy of the 13-valent pneumococcal conjugate vaccine (PCV13). METHODS: Oropharyngeal samples were obtained from 423 children with documented asthma (300 males, 70.9%), and tested for the autolysin-A-encoding (lytA) and the wzg (cpsA) gene of S. pneumoniae by means of real-time polymerase chain reaction. RESULTS: S. pneumoniae was identified in the swabs of 192 subjects (45.4%): 48.4% of whom were aged <10 years, 46.9% aged 10-14 years, and 4.7% aged ≥15 years (p < 0.001). Carriage was significantly less frequent among the children who had received recent antibiotic therapy (odds ratio [OR 0.41]; 95% confidence interval [95% CI] 0.22-0.76). Multivariate analyses showed no association between carriage and vaccination status, with ORs of 1.05 (95% CI 0.70-1.58) for carriers of any pneumococcal serotype, 1.08 (95% CI 0.72-1.62) for carriers of any of the serotypes included in 7-valent pneumococcal conjugate vaccine (PCV7), and 0.76 (95% CI 0.45-1.28) for carriers of any of the six additional serotypes of PCV13. Serotypes 19 F, 4 and 9 V were the most frequently identified serotypes in vaccinated subjects. CONCLUSIONS: These results showed that carriage of S. pneumoniae is relatively common in all school-aged children and adolescents with asthma, regardless of the severity of disease and the administration of PCV7 in the first years of life. This highlights the problem of the duration of the protection against colonisation provided by pneumococcal conjugate vaccine, and the importance of re-colonization by the same pneumococcal serotypes included in the previously used vaccine.


Assuntos
Asma/imunologia , Vacina Pneumocócica Conjugada Heptavalente/imunologia , Streptococcus pneumoniae/crescimento & desenvolvimento , Adolescente , Asma/microbiologia , Asma/prevenção & controle , Criança , Pré-Escolar , Avaliação de Medicamentos , Feminino , Vacina Pneumocócica Conjugada Heptavalente/administração & dosagem , Humanos , Masculino , Nasofaringe/microbiologia , Infecções Pneumocócicas/imunologia , Infecções Pneumocócicas/microbiologia , Infecções Pneumocócicas/prevenção & controle , Streptococcus pneumoniae/genética , Streptococcus pneumoniae/isolamento & purificação , Streptococcus pneumoniae/fisiologia , Vacinas Conjugadas/administração & dosagem , Vacinas Conjugadas/imunologia
4.
Int Arch Allergy Immunol ; 168(1): 25-31, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26528861

RESUMO

BACKGROUND: Little is known about the prevalence and clinical relevance of hypersensitivity to the plant panallergen profilin in children. OBJECTIVES: The present study aimed to investigate prevalence, risk factors and clinical relevance of profilin sensitization in a large cohort of Italian children of different ages living in different geographic areas. METHODS: Children with pollen allergy enrolled by 16 pediatric outpatient clinics sited in three main geographic areas of Italy were studied. SPT were carried out with commercial pollen extracts and a commercial purified date palm pollen profilin. IgE specific for allergenic pollen molecules, Phl p 12 (grass profilin) and Pru p 3 (peach lipid transfer protein) were tested by ImmunoCAP FEIA. RESULTS: IgE to Phl p 12 (≥0.35 kU/l) was observed in 296 of the 1,271 participants (23%), including 17 of the 108 (16%) preschool children. Profilin SPT was positive (≥3 mm) in 320/1,271 (25%) participants. The two diagnostic methods were concordant in 1,151 (91%, p < 0.0001) cases. Phl p 12 IgE prevalence declined from northern to southern Italy and was directly associated with IgE to Phl p 1 and/or Phl p 5 and Ole e 1. Among children with IgE to Phl p 12, OAS was provoked by kiwi, melon, watermelon, banana, apricot and cucumber. CONCLUSIONS: Profilin sensitization is very frequent among pollen-allergic children, occurs at a very young age and contributes to the development of childhood OAS with a typical pattern of offending foods. Pediatricians should always consider IgE sensitization to profilin while examining pollen-allergic children, even if they are at preschool age.


Assuntos
Alérgenos/imunologia , Antígenos de Plantas/imunologia , Hipersensibilidade/epidemiologia , Hipersensibilidade/imunologia , Imunoglobulina E/imunologia , Pólen/imunologia , Profilinas/imunologia , Proteínas de Transporte/imunologia , Criança , Reações Cruzadas/imunologia , Cucumis sativus/imunologia , Feminino , Frutas/imunologia , Humanos , Itália , Masculino , Poaceae/imunologia , Prevalência , Rinite Alérgica Sazonal/imunologia , Fatores de Risco , Testes Cutâneos/métodos
5.
Int J Immunopathol Pharmacol ; 28(3): 286-95, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26124183

RESUMO

In order to investigate whether polymorphisms of genes encoding some factors of innate and adaptive immunity play a role in the development of, or protection against atopic dermatitis (AD) and condition its severity, we genotyped 33 candidate genes and 47 single nucleotide polymorphisms (SNPs) using Custom TaqMan Array Microfluidic Cards and an ABI 7900HT analyser (Applied Biosystems, Foster City, CA, USA). The study involved 104 children with AD (29 with mild-to-moderate and 75 with severe disease; 42 girls; mean age ± SD, 5.8 ± 3.3 years) and 119 healthy controls (49 girls; mean age, 4.8 ± 3.0 years). IL10-rs1800872T, TG and MBL2-rs500737AG were all significantly more frequent among the children with AD (P = 0.015, P = 0.004 and P = 0.030), whereas IL10-rs1800896C and TC were more frequent in those without AD (P = 0.028 and P = 0.032). The VEGFA-rs2146326A and CTLA4-rs3087243AG SNPs were significantly more frequent in the children with mild/moderate AD than in those with severe AD (P = 0.048 andP = 0.036). IL10-rs1800872T and TG were significantly more frequent in the children with AD and other allergic diseases than in the controls (P = 0.014 and P = 0.007), whereas IL10-rs1800896TC and C were more frequent in the controls than in the children with AD and other allergic diseases (P = 0.0055 and P = 0.0034). These findings show that some of the polymorphisms involved in the immune response are also involved in some aspects of the development and course of AD and, although not conclusive, support the immunological hypothesis of the origin of the inflammatory lesions.


Assuntos
Dermatite Atópica/genética , Predisposição Genética para Doença/genética , Polimorfismo de Nucleotídeo Único/genética , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Frequência do Gene/genética , Genótipo , Humanos , Imunidade/genética , Interleucina-10/genética , Masculino
6.
J Allergy Clin Immunol ; 134(1): 75-81, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-24794684

RESUMO

BACKGROUND: Sensitization to profilins and other cross-reacting molecules might hinder proper specific immunotherapy (SIT) prescription in polysensitized patients with pollen-related allergic rhinitis (AR). In these patients, component-resolved diagnosis (CRD) might modify SIT prescription by improving the identification of the disease-eliciting pollen sources. OBJECTIVES: We sought to measure the effect of CRD on SIT prescription in children with pollen-related AR. METHODS: Children (n = 651) with moderate-to-severe pollen-related AR were recruited between May 2009 and June 2011 in 16 Italian outpatient clinics. Skin prick test (SPT) reactivity to grass, cypress, olive, mugwort, pellitory, and/or Betulaceae pollen was considered clinically relevant if symptoms occurred during the corresponding peak pollen season. IgE sensitization to Phl p 1, Phl p 5, Bet v 1, Cup a 1, Art v 1, Ole e 1, Par j 2, and Phl p 12 (profilin) was measured by using ImmunoCAP. SIT prescription was modeled on SPT responses first and then remodeled considering also CRD according to GA(2)LEN-European Academy of Allergology and Clinical Immunology guidelines and the opinions of 14 pediatric allergists. RESULTS: No IgE to the respective major allergens was detected in significant proportions of patients with supposed clinically relevant sensitization to mugwort (45/65 [69%]), Betulaceae (146/252 [60%]), pellitory (78/257 [30%]), olive (111/390 [28%]), cypress (28/184 [15%]), and grass (56/568 [10%]). IgE to profilins, polcalcins, or both could justify 173 (37%) of 464 of these SPT reactions. After CRD, the SPT-based decision on SIT prescription or composition was changed in 277 (42%) of 651 or 315 (48%) of 651 children according to the European or American approach, respectively, and in 305 (47%) of 651 children according to the opinion of the 14 local pediatric allergists. CONCLUSIONS: In children with pollen-related AR, applying CRD leads to changes in a large proportion of SIT prescriptions as opposed to relying on clinical history and SPT alone. The hypothesis that CRD-guided prescription improves SIT efficacy deserves to be tested.


Assuntos
Alérgenos/imunologia , Dessensibilização Imunológica/métodos , Pólen/imunologia , Rinite Alérgica Sazonal/diagnóstico , Rinite Alérgica Sazonal/terapia , Adolescente , Alérgenos/química , Criança , Pré-Escolar , Reações Cruzadas , Feminino , Expressão Gênica , Humanos , Imunoglobulina E/sangue , Masculino , Plantas/imunologia , Pólen/química , Profilinas/genética , Profilinas/imunologia , Rinite Alérgica Sazonal/imunologia , Rinite Alérgica Sazonal/patologia , Testes Cutâneos
8.
BMC Pulm Med ; 14: 31, 2014 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-24581224

RESUMO

BACKGROUND: Air pollution has many effects on the health of both adults and children, but children's vulnerability is unique. The aim of this review is to discuss the possible molecular mechanisms linking air pollution and asthma in children, also taking into account their genetic and epigenetic characteristics. RESULTS: Air pollutants appear able to induce airway inflammation and increase asthma morbidity in children. A better definition of mechanisms related to pollution-induced airway inflammation in asthmatic children is needed in order to find new clinical and therapeutic strategies for preventing the exacerbation of asthma. Moreover, reducing pollution-induced oxidative stress and consequent lung injury could decrease children's susceptibility to air pollution. This would be extremely useful not only for the asthmatic children who seem to have a genetic susceptibility to oxidative stress, but also for the healthy population. In addition, epigenetics seems to have a role in the lung damage induced by air pollution. Finally, a number of epidemiological studies have demonstrated that exposure to common air pollutants plays a role in the susceptibility to, and severity of respiratory infections. CONCLUSIONS: Air pollution has many negative effects on pediatric health and it is recognised as a serious health hazard. There seems to be an association of air pollution with an increased risk of asthma exacerbations and acute respiratory infections. However, further studies are needed in order to clarify the specific mechanism of action of different air pollutants, identify genetic polymorphisms that modify airway responses to pollution, and investigate the effectiveness of new preventive and/or therapeutic approaches for subjects with low antioxidant enzyme levels. Moreover, as that epigenetic changes are inheritable during cell division and may be transmitted to subsequent generations, it is very important to clarify the role of epigenetics in the relationship between air pollution and lung disease in asthmatic and healthy children.


Assuntos
Poluentes Atmosféricos/efeitos adversos , Poluição do Ar/efeitos adversos , Asma/induzido quimicamente , Asma/genética , Criança , Epigênese Genética , Predisposição Genética para Doença , Humanos
9.
BMC Pulm Med ; 14: 130, 2014 Aug 07.
Artigo em Inglês | MEDLINE | ID: mdl-25098250

RESUMO

BACKGROUND: Air pollution has many negative health effects on the general population, especially children, subjects with underlying chronic disease and the elderly. The aims of this study were to evaluate the effects of traffic-related pollution on the exacerbation of asthma and development of respiratory infections in Italian children suffering from asthma or wheezing compared with healthy subjects and to estimate the association between incremental increases in principal pollutants and the incidence of respiratory symptoms. METHODS: This prospective study enrolled 777 children aged 2 to 18 years (375 with recurrent wheezing or asthma and 402 healthy subjects). Over 12 months, parents filled out a daily clinical diary to report information about respiratory symptoms, type of medication used and healthcare utilization. Clinical data were combined with the results obtained using an air pollution monitoring system of the five most common pollutants. RESULTS: Among the 329 children with recurrent wheezing or asthma and 364 healthy subjects who completed follow-up, children with recurrent wheezing or asthma reported significantly more days of fever (p=0.005) and cough (p<0.001), episodes of rhinitis (p=0.04) and tracheitis (p=0.01), asthma attacks (p<0.001), episodes of pneumonia (p<0.001) and hospitalizations (p=0.02). In the wheezing/asthma cohort, living close to the street with a high traffic density was a risk factor for asthma exacerbations (odds ratio [OR]=1.79; 95% confidence interval [CI], 1.13-2.84), whereas living near green areas was found to be protective (OR=0.50; 95% CI, 0.31 -0.80). An increase of 10 µg/m3 of particulates less than 10 microns in diameter (PM10) and nitrogen dioxide (NO2) increased the onset of pneumonia only in wheezing/asthmatic children (continuous rate ratio [RR]=1.08, 95% CI: 1.00-1.17 for PM10; continuous RR=1.08, 95% CI: 1.01-1.17 for NO2). CONCLUSIONS: There is a significant association between traffic-related pollution and the development of asthma exacerbations and respiratory infections in children born to atopic parents and in those suffering from recurrent wheezing or asthma. These findings suggest that environmental control may be crucial for respiratory health in children with underlying respiratory disease.


Assuntos
Poluição do Ar/efeitos adversos , Asma/epidemiologia , Sons Respiratórios , Infecções Respiratórias/epidemiologia , Infecções Respiratórias/etiologia , Adolescente , Automóveis , Criança , Pré-Escolar , Tosse/epidemiologia , Tosse/etiologia , Progressão da Doença , Feminino , Febre/epidemiologia , Febre/etiologia , Hospitalização/estatística & dados numéricos , Humanos , Itália/epidemiologia , Masculino , Dióxido de Nitrogênio/toxicidade , Material Particulado/toxicidade , Pneumonia/epidemiologia , Pneumonia/etiologia , Estudos Prospectivos , Características de Residência , Rinite/epidemiologia , Rinite/etiologia , Fatores de Risco , Traqueíte/epidemiologia , Traqueíte/etiologia
10.
Pediatr Allergy Immunol ; 24(8): 742-51, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-24236692

RESUMO

BACKGROUND: Pollen-induced allergic rhinoconjunctivitis (AR) is highly prevalent and rapidly evolving during childhood. General practitioners may not be fully aware of the nature and severity of symptoms experienced by patients and might underestimate the prevalence of moderate or severe disease. Thus, the relevance of early diagnosis and intervention may be overlooked. OBJECTIVES: To investigate the severity of pollen-induced AR and its determinants in Italian children referred to allergy specialists and who had never received specific immunotherapy (SIT). METHODS: Children (age 4-18 yr) affected by pollen-induced AR who had never undergone SIT were recruited between May 2009 and June 2011 in 16 pediatric outpatient clinics in 14 Italian cities. Recruited children's parents answered standardized questionnaires on atopic diseases (International Study of Allergy and Asthma in Childhood, Allergic Rhinitis and its Impact on Asthma, Global Initiative for Asthma). The children underwent skin-prick test (SPT) with several airborne allergens and six food allergens. Information on socio-demographic factors, parental history of allergic diseases, education, perinatal events, breastfeeding, nutrition and environmental exposure in early life was collected through an informatics platform shared by the whole network of clinical centers (AllergyCARD™). RESULTS: Among the 1360 recruited patients (68% males, age 10.5 ± 3.4 yr), 695 (51%) had moderate-to-severe AR, 533 (39%) asthma, and 325 (23.9%) oral allergy syndrome (OAS). Reported onset of pollen-induced AR was on average at 5.3 ± 2.8 yr, and its mean duration from onset was 5.2 ± 3.3 yr. Only 6.2% of the patients were pollen-monosensitized, and 84.9% were sensitized to ≥3 pollens. A longer AR duration was significantly associated with moderate-to-severe AR symptoms (p 0.004), asthma (p 0.030), and OAS comorbidities (p < 0.001). CONCLUSIONS: This nationwide study may raise awareness of the severity of pollen-induced AR among Italian children who have never received pollen SIT. The strong association between pollen-induced AR duration and several markers of disease severity needs replication in longitudinal studies, while suggesting that countrywide initiatives for earlier diagnosis and intervention should be planned.


Assuntos
Conjuntivite Alérgica/epidemiologia , Rinite Alérgica Sazonal/epidemiologia , Idade de Início , Alérgenos/imunologia , Antígenos de Plantas/imunologia , Criança , Pré-Escolar , Comorbidade , Progressão da Doença , Diagnóstico Precoce , Feminino , Humanos , Itália , Masculino , Pólen/efeitos adversos , Pólen/imunologia , Prevalência , Rinite Alérgica Sazonal/diagnóstico , Testes Cutâneos , Inquéritos e Questionários
11.
Paediatr Respir Rev ; 14(1): 53-60, 2013 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-23347661

RESUMO

Many children are affected by recurrent lower respiratory tract infections (LRTIs), but the majority of them do not suffer from serious lung or extrapulmonary disease. The challenge for clinicians is to distinguish the recurrent RTIs with self-limiting or minor problems from those with underlying disease. The aim of this review is to describe a practical approach to children with recurrent LRTIs that limits unnecessary, expensive and time-consuming investigations. The children can be divided into three groups on the basis of their personal and family history and clinical findings: 1) otherwise healthy children who do not need further investigations; 2) those with risk factors for respiratory infections for whom a wait-and-see approach can be recommended; and 3) those in whom further investigations are mandatory. However, regardless of the origin of the recurrent LRTIs, it is important to remember that prevention by means of vaccines against respiratory pathogens (i.e. type b Haemophilus influenzae, pertussis, pneumococcal and influenza vaccines) can play a key role.


Assuntos
Imunidade Inata , Imunização/métodos , Infecções Respiratórias , Criança , Saúde Global , Humanos , Incidência , Infecções Respiratórias/epidemiologia , Infecções Respiratórias/imunologia , Infecções Respiratórias/prevenção & controle , Fatores de Risco , Prevenção Secundária
12.
Pediatr Pulmonol ; 58(4): 1051-1058, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36571235

RESUMO

BACKGROUND: In children with primary ciliary dyskinesia (PCD), measures more sensitive than spirometry are needed to characterize underlying pulmonary impairment. Electrical impedance tomography (EIT) is a promising noninvasive method for monitoring the distribution of lung ventilation, and it does not require patient collaboration. We aimed to provide an assessment of the feasibility and clinical usefulness of EIT in characterizing lung impairment in children with PCD, compared to spirometry and multiple breath nitrogen washout (MBWN2 ) test. METHODS: Children and adolescents with PCD underwent MBWN2 test as first respiratory assessment, followed by EIT monitoring and spirometry during outpatient follow-up. RESULTS: We included 12 out of 16 individuals regularly followed at our clinic. A total of 41.7% (5/12) showed abnormal forced expiratory volume in 1 s (FEV1 ), whereas 11/12 (91.7%) had abnormal ventilation inhomogeneity measured with MBWN2 test. Using EIT, the global inhomogeneity (GITOT ) index showed moderate to strong correlation with FEV1 (ρ = -0.55, 95% confidence interval [CI]: -0.87 to 0.02) and ranged from 37 to 44, with the highest inhomogeneity detected in the dorsal right quadrant. GITOT was moderately correlated with RV/TLC %predicted (ρ = 0.38, 95% CI: -0.17 to 0.74), while we detected a weak correlation between GITOT and lung clearance index (ρ = 0.29, 95% CI: -0.45 to 0.82). CONCLUSION: EIT appears promising as a noninvasive technique to characterize ventilation distribution in children with PCD, thus providing a complementary assessment to static and dynamic lung function measures of PCD disease.


Assuntos
Transtornos da Motilidade Ciliar , Pulmão , Adolescente , Humanos , Criança , Estudos Transversais , Impedância Elétrica , Pulmão/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Tomografia/métodos
13.
Children (Basel) ; 10(6)2023 May 27.
Artigo em Inglês | MEDLINE | ID: mdl-37371187

RESUMO

Sleep is a fundamental biological necessity, the lack of which has severe repercussions on the mental and physical well-being in individuals of all ages. The phrase "sleep-disordered breathing (SDB)" indicates a wide array of conditions characterized by snoring and/or respiratory distress due to increased upper airway resistance and pharyngeal collapsibility; these range from primary snoring to obstructive sleep apnea (OSA) and occur in all age groups. In the general pediatric population, the prevalence of OSA varies between 2% and 5%, but in some particular clinical conditions, it can be much higher. While adenotonsillar hypertrophy ("classic phenotype") is the main cause of OSA in preschool age (3-5 years), obesity ("adult phenotype") is the most common cause in adolescence. There is also a "congenital-structural" phenotype that is characterized by a high prevalence of OSA, appearing from the earliest ages of life, supported by morpho-structural abnormalities or craniofacial changes and associated with genetic syndromes such as Pierre Robin syndrome, Prader-Willi, achondroplasia, and Down syndrome. Neuromuscular disorders and lysosomal storage disorders are also frequently accompanied by a high prevalence of OSA in all life ages. Early recognition and proper treatment are crucial to avoid major neuro-cognitive, cardiovascular, and metabolic morbidities.

14.
Pediatr Pulmonol ; 58(4): 1127-1135, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36588099

RESUMO

INTRODUCTION: There are no recent data on primary ciliary dyskinesia (PCD) distribution, diagnosis and treatment in Italy. METHODS: A descriptive study based on a survey questionnaire. It consisted of three sections (patients, diagnosis, and treatment), and sent to all the Italian PCD Centers. RESULTS: Questionnaires obtained from 20/22 centers in 12/20 regions showed that the total number of PCD patients treated at the participating centers was of 416. Out of all centers, 55% follow <20 patients, two centers have >40 patients, and 75% follow both pediatric and adults. Age at diagnosis was between 4 and 8 years in 45% of the centers, <3 years in three centers. Nasal nitric oxide, transmission electron microscopy and ciliary high-speed video microscopy are performed in 75%, 90%, and 40% of centers, respectively. Immunofluorescence is available in five centers. Genetic analysis is offered in 55% of the centers, and in seven centers >50% of the patients have a known genetic profile. Patients treated at all centers receive inhaled saline solutions, corticosteroids and chest physiotherapy. Prophylactic antibiotics and mucolytics are prescribed in 95% and 50% of the centers, respectively. Pseudomonas infection is treated with oral or inhaled antibiotics. CONCLUSIONS: Many Italian centers care for a small number of pediatric and adult patients, and diagnosis is often delayed. We found a great variability in the available diagnostic procedures, as well in the prescribed therapies. Our study will help to uniform diagnostic algorithm and share treatments protocols for PCD in Italy and allowed to set specific national goals.


Assuntos
Transtornos da Motilidade Ciliar , Síndrome de Kartagener , Adulto , Humanos , Criança , Pré-Escolar , Síndrome de Kartagener/diagnóstico , Síndrome de Kartagener/terapia , Síndrome de Kartagener/genética , Microscopia Eletrônica de Transmissão , Antibacterianos/uso terapêutico , Itália , Inquéritos e Questionários , Transtornos da Motilidade Ciliar/diagnóstico , Transtornos da Motilidade Ciliar/terapia , Cílios
15.
Pediatr Allergy Immunol ; 23 Suppl 22: 17-9, 2012 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-22762849

RESUMO

Rhinosinusitis is almost always a complication of a viral infection involving the upper respiratory tract. A common cold is the first symptom of rhinosinusitis, but infectious processes involving the nose inevitably affect the paranasal sinuses because of their anatomical contiguity. The symptoms remain those of a common cold as long as nasal phlogosis is moderate and the ostia between the nose and sinuses are patent. If the inflammation is intense, edema may obliterate the ostia and isolate the sinuses, thus stopping the removal of the exudates. The duration of symptoms makes it possible to distinguish acute (10-30 days) from subacute (30-90 days) and chronic rhinosinusitis (>90 days). The diagnosis of rhinosinusitis should only be based on anamnestic and clinical criteria in children with serious or persistent symptoms of upper respiratory tract infection, or which appear within a short time of an apparent recovery. Computed tomography and magnetic resonance images of the paranasal sinuses should be reserved for children reasonably considered to be candidates for surgery. Antibiotics are recommended in cases of mild acute bacterial rhinosinusitis as a means of accelerating the resolution of symptoms. The use of antibiotics is mandatory in severe acute bacterial rhinosinusitis to cure the disease and avoid the possible onset of severe complications.


Assuntos
Seios Paranasais/imunologia , Rinite/diagnóstico , Sinusite/diagnóstico , Viroses/diagnóstico , Doença Aguda , Criança , Doença Crônica , Diagnóstico Diferencial , Humanos , Imageamento por Ressonância Magnética , Seios Paranasais/diagnóstico por imagem , Cintilografia , Sistema Respiratório/imunologia , Sistema Respiratório/virologia , Rinite/etiologia , Rinite/imunologia , Sinusite/etiologia , Sinusite/imunologia , Tomografia Computadorizada por Raios X , Viroses/complicações , Viroses/imunologia
16.
Front Pediatr ; 10: 829521, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35321012

RESUMO

The novel Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) infection has milder presentation in children than in adults, mostly requiring only supportive therapy. The immunopathogenic course of COVID-19 can be divided in two distinct but overlapping phases: the first triggered by the virus itself and the second one by the host immune response (cytokine storm). Respiratory failure or systemic involvement as Multisystem Inflammatory Syndrome in Children (MIS-C) requiring intensive care are described only in a small portion of infected children. Less severe lung injury in children could be explained by qualitative and quantitative differences in age-related immune response. Evidence on the best therapeutic approach for COVID-19 lung disease in children is lacking. Currently, the approach is mainly conservative and based on supportive therapy. However, in hospitalized children with critical illness and worsening lung function, antiviral therapy with remdesivir and immunomodulant treatment could be considered the "therapeutic pillars."

17.
Front Pediatr ; 10: 884962, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35433541

RESUMO

The SARS-CoV-2 (Severe acute respiratory syndrome Coronavirus-2) pandemic has forced the global health system to face new challenges both in the acute management of COVID-19 (Coronavirus Disease 2019) patients and in its consequences. In particular, the long-term effects of this new virus, especially in children, are still poorly understood. Scientific research is currently trying to understand the mechanisms underlying the so called "long COVID syndrome". Since the beginning of the pandemic, breastmilk has been studied for its antiviral and immunomodulatory properties. Based on these assumptions, we conducted a preliminary study in order to investigate the prevalence of long COVID in a cohort of Italian children with previously detected SARS-CoV-2 infection and evaluate if breastfeeding might play a role in modulating long COVID occurrence.

18.
Front Pediatr ; 10: 867968, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35463893

RESUMO

Background: Limited data are available on the attitudes of caregivers toward COVID-19 vaccination in children and adolescents with a history of SARS-CoV-2 infection or Long Covid symptoms. The aim of this study was to investigate the vaccine hesitancy among caregivers of children and adolescents with a documented history of SARS-CoV-2 infection and to explore the possible associations between COVID-19 manifestations and the acceptance of the vaccine. Methods: Caregivers of children or adolescents with a microbiologically confirmed diagnosis of SARS-CoV-2 infection evaluated in two University Hospitals were interviewed. Results: We were able to contact 132 caregivers and 9 declined to participate. 68 caregivers (56%) were in favor of COVID-19 vaccination for their child. In the multiple logistic regression, child's age (OR 1.17, 95%CI 1.06-1.28) and hospitalization due to COVID-19 (OR 3.25, 95%CI 1.06-9.95) were positively associated with being in favor of COVID-19 vaccination. On the contrary, the occurrence of child's Long Covid was associated with a higher likelihood of being against the vaccination (OR 0.28, 95%CI 0.10-0.80). Conclusions: This preliminary study shows that only about half of the interviewed parents of children and adolescents with a previous SARS-CoV-2 infection are willing to vaccinate them to prevent a repeated COVID-19 infection. These findings might help healthcare workers to provide tailored information to caregivers of children with a previous SARS-CoV-2 infection.

19.
J Pediatr Genet ; 9(2): 132-136, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32341819

RESUMO

Sleep-disordered breathing (SDB) is common in children, especially in those with congenital or genetic diseases. The factors involved include obstructive sleep apnea, disrupted rapid eye movement sleep, and central hypoventilation. Diagnosing and treating SDB in these children have a positive impact on the quality of life of them and their families, reducing the risk of both further impairment of cognitive abilities and cardiopulmonary complications. We report a familial case of SDB with central hypoventilation, in which identification of the disorder in the younger sister led to the unfortunately late diagnosis and treatment of the same condition in the older sister.

20.
Pediatr Med Chir ; 31(4): 161-4, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19839398

RESUMO

OBJECTIVES: Recurrent respiratory infections (RRI) are a common problem mainly in pre-school age, due to the presence of unfavourable environmental conditions, including early socialization, as well as the immaturity and inexperience of the immune system. The relation between atopy and RRI has been evaluated in several studies, but the results were not conclusive. This study sought to determine the impact of atopy, the immunological and clinical profile in 297 Italian children with RRI, younger than 6 years. METHODS: All children were assessed for blood leukocyte count, serum immunoglobulin level, IgG subclasses, lymphocytic subpopulations, total and specific IgE levels for common food and inhalant allergens. RESULTS: A total of 218 children (73.4%) provided a positive family history of atopic disorders. Atopy was found in 150 out of 297 children (50.5%). Early onset (<1 year) of RRI symptoms occurred more frequently in atopic children that in non atopic ones (58.9% vs 44%, p=0.02). A higher percentage of the male children (61.6%) got sick, as compared with the percentage of female children (38.4%), and the male children were more frequently atopic (67.3% vs 55.8%, p=0.03). Thirty-nine out of 297 children (13.2%) were diagnosed as having immunological disorders (IgA deficiency, IgG2 deficiency and transient hypogammaglobulinemia). CONCLUSIONS: Our results provide evidence that, in our population, atopy is a frequent condition and it's likely to be a favouring factor for RRI, while the presence of an underlying immunological disease is relatively uncommon and immune defects are mostly mild.


Assuntos
Hipersensibilidade/complicações , Infecções Respiratórias/imunologia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Itália , Masculino , Recidiva
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA