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1.
BMC Endocr Disord ; 20(1): 160, 2020 Oct 27.
Artigo em Inglês | MEDLINE | ID: mdl-33109161

RESUMO

BACKGROUND: Gynaecomastia is a fairly common condition in puberty but is rare in prepubertal boys. While it is necessary to exclude possible endocrinopathay in prepubertal gynaecomastia, medication is an important and potentially reversible cause to consider in new onset gynaecomastia. Isoniazid-induced gynaecomastia has been reported in adult males, but none was reported in the paediatric population and general paediatricians may not be aware of this uncommon side effect. CASE PRESENTATION: We hereby report a 11-year-old prepubertal boy who developed gynaecomastia while taking anti-tuberculosis drugs. Investigations excluded endocrinopathies. Gynaecomastia subsided 8 weeks after stopping isoniazid. CONCLUSION: This case is the first paediatric case report describing the association of gynaecomastia with isoniazid use. It is important for general paediatricians to recognize this entity, as prompt diagnosis and cessation of the offending drug can lead to resolution of the problem.


Assuntos
Antituberculosos/efeitos adversos , Ginecomastia/patologia , Isoniazida/efeitos adversos , Suspensão de Tratamento/estatística & dados numéricos , Criança , Ginecomastia/induzido quimicamente , Ginecomastia/prevenção & controle , Humanos , Masculino , Prognóstico
2.
Front Genet ; 13: 933381, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36003331

RESUMO

Bronchiectasis is the abnormal dilation of the airway which may be caused by various etiologies in children. Beyond the more recognized cause of bacterial and viral infections and primary immunodeficiencies, other genetic conditions such as cystic fibrosis and primary ciliary dyskinesia (PCD) can also contribute to the disease. Currently, there is still debate on whether genome sequencing (GS) or exome sequencing reanalysis (rES) would be beneficial if the initial targeted testing results returned negative. This study aims to provide a back-to-back comparison between rES and GS to explore the best integrated approach for the functional and genetics evaluation for patients referred for assessment of bronchiectasis. In phase 1, an initial 60 patients were analyzed by exome sequencing (ES) with one additional individual recruited later as an affected sibling for ES. Functional evaluation of the nasal nitric oxide test, transmission electron microscopy, and high-speed video microscopy were also conducted when possible. In phase 2, GS was performed on 30 selected cases with trio samples available. To provide a back-to-back comparison, two teams of genome analysts were alternatively allocated to GS or rES and were blinded to each other's analysis. The time for bioinformatics, analysis, and diagnostic utility was recorded for evaluation. ES revealed five positive diagnoses (5/60, 8.3%) in phase 1, and four additional diagnoses were made by rES and GS (4/30, 13%) during phase 2. Subsequently, one additional positive diagnosis was identified in a sibling by ES and an overall diagnostic yield of 10/61 (16.4%) was reached. Among those patients with a clinical suspicion of PCD (n = 31/61), the diagnostic yield was 26% (n = 8/31). While GS did not increase the diagnostic yield, we showed that a variant of uncertain significance could only be detected by GS due to improved coverage over ES and hence is a potential benefit for GS in the future. We show that genetic testing is an essential component for the diagnosis of early-onset bronchiectasis and is most effective when used in combination with functional tools such as TEM or HSVM. Our comparison of rES vs. GS suggests that rES and GS are comparable in clinical diagnosis.

3.
JAMA Netw Open ; 4(5): e218824, 2021 05 03.
Artigo em Inglês | MEDLINE | ID: mdl-33938934

RESUMO

Importance: Schools were closed intermittently across Hong Kong to control the COVID-19 outbreak, which led to significant physical and psychosocial problems among children and youths. Objective: To compare the clinical characteristics and sources of infection among children and youths with COVID-19 during the 3 waves of outbreaks in Hong Kong in 2020. Design, Setting, and Participants: This cross-sectional study involved children and youths aged 18 years or younger with COVID-19 in the 3 waves of outbreaks from January 23 through December 2, 2020. Data were analyzed from December 2020 through January 2021. Main Outcomes and Measures: Demographic characteristics, travel and contact histories, lengths of hospital stay, and symptoms were captured through the central electronic database. Individuals who were infected without recent international travel were defined as having domestic infections. Results: Among 397 children and youths confirmed with COVID-19 infections, the mean (SD) age was 9.95 (5.34) years, 220 individuals (55.4%) were male, and 154 individuals (38.8%) were asymptomatic. There were significantly more individuals who were infected without symptoms in the second wave (59 of 118 individuals [50.0%]) and third wave (94 of 265 individuals [35.5%]) than in the first wave (1 of 14 individuals [7.1%]) (P = .001). Significantly fewer individuals who were infected in the second and third waves, compared with the first wave, had fever (first wave: 10 individuals [71.4%]; second wave: 22 individuals [18.5%]; third wave: 98 individuals [37.0%]; P < .001) or cough (first wave: 6 individuals [42.9%]; second wave: 15 individuals [12.7%]; third wave: 52 individuals [19.6%]; P = .02). Among all individuals, 394 individuals (99.2%) had mild illness. One patient developed chilblains (ie, COVID toes), 1 patient developed multisystem inflammatory syndrome in children, and 1 patient developed post-COVID-19 autoimmune hemolytic anemia. In all 3 waves, 204 patients with COVID-19 (51.4%) had domestic infections. Among these individuals, 186 (91.2%) reported having a contact history with another individual with COVID-19, of which most (183 individuals [90.0%]) were family members. In the third wave, 18 individuals with domestic infections had unknown contact histories. Three schoolmates were confirmed with COVID-19 on the same day and were reported to be close contacts. Conclusions and Relevance: This cross-sectional study found that nearly all children and youths with COVID-19 in Hong Kong had mild illness. These findings suggest that household transmission was the main source of infection for children and youths with domestic infections and that the risk of being infected at school was small.


Assuntos
Infecções Assintomáticas/epidemiologia , COVID-19 , Busca de Comunicante , SARS-CoV-2/isolamento & purificação , Avaliação de Sintomas , Adolescente , COVID-19/epidemiologia , COVID-19/terapia , COVID-19/transmissão , Criança , Busca de Comunicante/métodos , Busca de Comunicante/estatística & dados numéricos , Estudos Transversais , Transmissão de Doença Infecciosa/prevenção & controle , Transmissão de Doença Infecciosa/estatística & dados numéricos , Características da Família , Feminino , Hong Kong/epidemiologia , Hospitalização/estatística & dados numéricos , Humanos , Masculino , Índice de Gravidade de Doença , Avaliação de Sintomas/métodos , Avaliação de Sintomas/estatística & dados numéricos , Doença Relacionada a Viagens
4.
Indian J Pediatr ; 85(8): 658-666, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-29308548

RESUMO

Preschool wheeze occurs in half of the children before they reach 6 y of age and recurrence is also common. Recurrent preschool wheeze is classified as either typical or atypical. For typical recurrent preschool wheeze, the diagnoses are either asthma or bronchiolitis/bronchitis. Responsiveness to a properly administered bronchodilator confirms asthma, atopic or otherwise. All atypical preschool wheeze should be referred to pediatric respirologist for assessment. Lung function test by impulse oscillometry (IOS) before and after bronchodilator is helpful to confirm airway hyperresponsiveness, an essential feature of asthma. Assessment of atopy is important by either skin prick test or serum IgE level. Treatment of acute wheeze includes standard supportive care, bronchodilator for those diagnosed with asthma and hypertonic saline for those diagnosed as having acute bronchiolitis. Other treatments included nebulized adrenaline for acute bronchiolitis and systemic steroids for asthma. For those with significant respiratory distress, continuous positive airway pressure (CPAP) or heated humidified high flow should be considered. Daily or intermittent inhaled corticosteroid or intermittent montelukast would reduce asthma exacerbation rate. A significant proportion of preschool wheeze persists till school age. An early diagnosis of asthma would be important to allow early optimal management.


Assuntos
Asma/diagnóstico , Bronquite/diagnóstico , Broncodilatadores/uso terapêutico , Sons Respiratórios , Asma/complicações , Bronquite/complicações , Pré-Escolar , Humanos , Testes de Função Respiratória
5.
World J Pediatr ; 14(5): 482-491, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30047047

RESUMO

BACKGROUND: Asthma is a significant chronic health problem worldwide. Management aims at disease control by reducing functional impairment and exacerbations and improving quality of life (QoL). We report a multi-center study to survey asthma control and QoL in four cities in the Pearl River Delta. METHODS: The conjoint survey involved ten Hong Kong pediatric hospitals/units, two Shenzhen hospitals, two Macau hospitals, and two Guangzhou hospitals on asthma control (using Asthma Control Test) and QoL (Pediatric Allergic Disease Quality of Life Questionnaire, PADQLQ). Acceptability of a treatment is graded as very good/good/fair/poor. RESULTS: Good asthma control was only reported in 80% subjects in Hong Kong, but higher in sister cities (85-94%, P < 0.001). Allergic rhinitis, "incense burning", and "smoker in family" were prevalent among the four cities. Logistic regression showed better control of asthma was associated with better PADQLQ (B = - 0.029, P < 0.001), better acceptability of bronchodilator (B = - 1.488, P = 0.025), negatively with "smoker in family" (B = - 0.83, P = 0.015) and various PADQLQ domains. Conversely, worse PADQLQ was associated with allergic rhinitis severity (B = 4.77, P < 0.001), poor control of asthma (B = 7.56, P < 0.001), increased frequency of traditional Chinese medicine use (B = 1.7, P < 0.05), increased frequency of bronchodilator usage (B = 1.05, P < 0.05), "smoker in family" (B = 4.05, P < 0.05), and incense burning at home (B = 3.9, P < 0.05). CONCLUSIONS: There are some clinical and cultural differences among the four southern Chinese cities within the Guangdong province. This study identifies potentially modifiable environmental and treatment factors associated with poor asthma control and QoL for health-care interventions. Having a smoker in the family is independently associated with poor asthma control and QoL.


Assuntos
Asma/diagnóstico , Asma/terapia , Terapias Complementares/métodos , Qualidade de Vida , Inquéritos e Questionários , Adolescente , Asma/psicologia , Criança , Cidades , Estudos Transversais , Feminino , Hong Kong , Humanos , Modelos Logísticos , Masculino , Análise Multivariada , Pediatria , Medição de Risco , Índice de Gravidade de Doença , Resultado do Tratamento , População Urbana
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