Zhonghua er ke za zhi. Chinese journal of pediatrics
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Zhonghua Er Ke Za Zhi · Oct 2020
Review Case Reports[Alveolar capillary dysplasia with misalignment of the pulmonary veins: a case report and literature review].
Objective: To investigate the clinical, pathological and genetic characteristics of neonatal alveolar capillary dysplasia with misalignment of the pulmonary veins (ACDMPV). Methods: The clinical manifestations, radiographic examinations, pathology and parental genetic analysis of a newborn with FOXF1 variation induced ACDMPV, who was hospitalized in the Department of Neonatology of Shenzhen Children's Hospital in January 2020, were extracted and analyzed. Related literature up to March 2020 with the key words of "Alveolar capillaries dysplasia" "Alveolar capillary dysplasia with misalignment of the pulmonary veins" "FOXF1" in PubMed, CNKI, Wanfang, CQVIP database and Leiden Open Variation database (LOVD) were searched. ⋯ Only three of the reported 45 cases （24 males, 21 females） were still alive as of the time of this study. Conclusions: Typically, ACDMPV is a catastrophic disease in neonatal period with high mortality. Lung biopsy and genetic testing should be considered in infants who present with persistent pulmonary hypertension and refractory hypoxemia, especially when combined with extrapulmonary abnormalities.
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Zhonghua Er Ke Za Zhi · Apr 2020
Meta Analysis[Efficacy and safety of intranasal dexmedetomidine premedication for children undergoing CT or magnetic resonance imaging: a systematic review and meta-analysis].
Objective: To review the efficacy and safety in children receiving intranasal dexmedetomidine premedication before CT or magnetic resonance imaging (MRI). Methods: A literature search (search terms included "dexmedetomidine" "intranasal drug administration" "children" "CT" and "MRI") was conducted using Embase, PubMed, the Cochrane Library, ClinicalTrials.gov, CNKI, Wanfang, VIP database and Chinese Biomedical Literature Database (searched from inception to March 18, 2019). Randomized controlled trials of children receiving intranasal dexmedetomidine versus chloral hydrate, ketamine or midazolam premedication before CT or MRI were included. ⋯ There were no intergroup differences in systolic blood pressure and blood oxygen saturation. Conclusions: Intranasal dexmedetomidine provided more effective sedation and higher safety in children undergoing CT or MRI. As this meta-analysis is limited by the small sample size, further high-quality randomized controlled trials are needed.
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Zhonghua Er Ke Za Zhi · Jan 2020
Review[Whole lung lavage in an infant with pulmonary alveolar proteinosis and literature review].
Objective: To investigate the safety, feasibility and operation key points of whole lung lavage in infants with pulmonary alveolar proteinosis. Methods: The clinical manifestations, genetic screening, therapeutic interventions and outcome of an infant with pulmonary alveolar proteinosis complicated with respiratory failure who received whole lung lavage in November 2018 in Shanghai Children's Medical Center Affiliated to Shanghai Jiaotong University School of Medicine were reported. Websites including PubMed, Springer Link, China National Knowledge Infrastructure (CNKI), Weipu Database, and Wanfang Database were searched using the key words of "whole lung lavage" "pediatric" and "pulmonary alveolar proteinosis" for articles published from their establishments to April 2019. ⋯ After whole lung lavage, 76% (16/21) of the patients had improvement in respiratory function. Conclusions: Whole lung lavage can effectively improve respiratory failure caused by pulmonary alveolar proteinosis in infant patients. The procedure is feasible and safe.
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Zhonghua Er Ke Za Zhi · Feb 2018
Review Case Reports[Cilia ultrastructural and gene variation of primary ciliary dyskinesia: report of three cases and literatures review].
Objective: To analyze the clinical manifestations, cilia ultrastructure and gene variations of primary ciliary dyskinesia (PCD). Methods: Analysis of three cases diagnosed as PCD by transmission electron microscopy of the endobronchial biopsy material in Division of Pediatric Pulmonology of Shandong Provincial Hospital between 2013 and 2016. Target gene sequence capture and next generation sequencing were used to analyze the gene. ⋯ Eleven of fifteen Chinese PCD patients with positive gene mutations were Kartagener syndrome. Cilia ultrastructure showed defects of inner and outer dynein arms, radial spokes, microtubule and central pair. Ten kinds of gene variations were found: DNAH5, DYX1C1, CCNO, CCDC39, CCDC40, HYDIN, ARMC4, DNAI1, LRRC6、DNAH11.
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Zhonghua Er Ke Za Zhi · Apr 2017
Review Case Reports[Primary ciliary dyskinesia with HYDIN gene mutations in a child and literature review].
Objective: To review children's primary ciliary dyskinesia (PCD) in the pathogenesis, clinical manifestation, diagnosis and treatment. Method: To summarize and analyze the clinical data of a patient who was admitted to the first affiliated hospital of Xiamen University with primary ciliary dyskinesia in April 2014 while referring to related literature. Result: An 11 years old boy, weighting about 22 kg, had a course of more than 10 years with repeated cough, stuffy and runny nose shortly after the birth. ⋯ Most of the patients had no obvious structural abnormalities in cilia electron microscopic examination. Conclusion: The PCD patients with HYDIN genes mutations have clinical manifestations such as sinusitis, otitis media, bronchiectasis but without transposition of viscera. Cilia structure can be normal under the electron microscopic examination in some of patients.