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518 results on '"Gai, Zhongtao"'

15. Clinical and Genetic Characteristics of Two Cases With Developmental and Epileptic Encephalopathy 93 Caused by Novel ATP6V1A Mutations and Literature Review.

Author

Ma, Jian, Zhang, Hongwei, Lv, Yuqiang, Gao, Min, Gai, Zhongtao, Liu, Yi, and Aziz, Aziz ur Rehman

Abstract

Developmental and epileptic encephalopathy 93 (DEE93) is a new defined autosomal dominant neurologic disorder caused by heterozygous mutations in the ATP6V1A gene on chromosome 3q13. DEE93 is characterized by developmental delay, early‐onset refractory seizures, hypotonia, and intellectual disability. So far, merely 31 cases caused by ATP6V1A gene mutation have been reported in literature worldwide, and early genetic detection is required for differential diagnosis. Here, we analyze the clinical and genetic features of two patients with two novel ATP6V1A mutations (c.1061G>T/p.(Trp354Leu) and c.746C>T/p.(Pro249Leu)) and expound the therapeutic schedule for epilepsy. We also review the reported mutations and genotypes associated with the disorder. Our study expands the clinical and genetic spectrum of ATP6V1A mutation‐associated DEE93, which provides a basis for the diagnosis, treatment, and genetic counseling of the disorder. [ABSTRACT FROM AUTHOR]

Published
2024
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16. Retrospective, observational study of different medication regimens and outcome in children with cough variant asthma.

Author

Lou, Nannan, Ma, Xiang, Luo, Qingxin, Wei, Xiaoling, Zhang, Yun, Guo, Jing, Wang, Jing, and Gai, Zhongtao

Subjects
PROPORTIONAL hazards models, LEUKOTRIENE antagonists, COUGH, LOGISTIC regression analysis, REGRESSION analysis, TREATMENT duration
Abstract

Objective: This retrospective longitudinal cohort study aimed to explore the best therapeutic regimen and treatment duration of cough variant asthma (CVA) in children. Methods: A total of 314 children with CVA were divided into receive inhaled corticosteroids (ICS) combined with long‐acting beta2‐agonist (LABA) group, ICS combined with leukotriene receptor antagonists (LTRA) group, ICS monotherapy group and LTRA monotherapy group. All clinical data were statistically analyzed. Logistic regression model was used to compare the advantages and disadvantages of different treatment schemes at each follow‐up time point and the best treatment scheme. The Cox proportional hazard regression model based on inverse probability weighting was used to compare the effects of different medication regimens on adverse outcomes with asthma recurrence or progression as the end point. Results: (1) After comprehensive analysis, ICS + LABA group was the preferred control regimen for CVA within 8 weeks. After 8 weeks of diagnosis, the efficacy of ICS group or LTRA group was comparable to that of ICS + LABA group and ICS + LTRA group. (2) The ICS + LABA group showed a significant improvement in cough at an early stage, particularly at 4 weeks; the symptoms of ICS + LTRA and ICS groups were significantly improved at 36 weeks. The LTRA group alone showed significant improvement at 20 weeks. Conclusion: ICS + LABA, ICS + LTRA, ICS alone and LTRA alone can effectively treat CVA. ICS + LABA could improve the symptoms most quickly within 8 weeks after CVA diagnosis, followed by ICS + LATR group. After 8 weeks, it can be reduced to ICS alone to control CVA for at least 36 weeks based on the remission of symptoms in children. [ABSTRACT FROM AUTHOR]

Published
2024
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36. Epidemiological characteristics of common respiratory infectious diseases in children before and during the COVID-19 epidemic

Author

Wang, Bing, primary, Gai, Xiangzhen, additional, Han, Yuling, additional, Liu, Yanqin, additional, Zhang, Yun, additional, Sun, Jing, additional, Liu, Miao, additional, Yu, Huafeng, additional, Peng, Zhenju, additional, Wei, Xiaoling, additional, Chang, Yuna, additional, Ma, Xiang, additional, and Gai, Zhongtao, additional

Published
2023
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42. Diagnostic application of exome sequencing in Chinese children with suspected inherited kidney diseases

Author

Gao, Min, Yu, Fengling, Dong, Rui, Zhang, Kaihui, Lv, Yuqiang, Ma, Jian, Wang, Dong, Zhang, Hongxia, Gai, Zhongtao, and Liu, Yi

Subjects
Genetics, Molecular Medicine, Genetics (clinical)
Abstract

Background: Inherited kidney diseases (IKDs) are a group of kidney diseases characterized by abnormal kidney structure or function caused by genetic factors, but they are not easily diagnosed in childhood due to either nonspecific symptoms and signs or clinically silent symptoms in the early stages until the progressive stages, even end-stages. Early diagnosis of IKDs is very urgent for timely treatment and improving outcomes of patients. So far, the etiological diagnosis has been accelerated with the advance of clinical genetic technology, particularly the advent of next-generation sequencing (NGS) that is not only a powerful tool for prompt and accurate diagnosis of IKDs but also gives therapy guidance to decrease the risk of unnecessary and harmful interventions.Methods: The patients presenting with urinalysis abnormalities or structural abnormalities from 149 Chinese families were enrolled in this study. The clinical features of the patients were collected, and the potentially causative gene variants were detected using exome sequencing. The clinical diagnostic utility of the genetic testing was assessed after more detailed clinical data were analyzed.Result: In total, 55 patients identified having causative variants by exome sequencing were genetically diagnosed, encompassing 16 (29.1%) autosomal dominant IKDs, 16 (29.1%) autosomal recessive IKDs, and 23 (41.8%) X-linked IKDs, with 25 unreported and 45 reported variants. The diagnostic yield was 36.9%. The utility of the exome sequencing was accessed, 12 patients (21.8%) were confirmed to have suspected IKDs, 26 patients (47.3%) discerned the specific sub-types of clinical category, and 17 patients (30.9%) with unknown etiology or lack of typical manifestations were reclassified.Conclusion: Our study supported that genetic testing plays a crucial role in the early diagnosis for children with IKDs, which affected follow-up treatment and prognostic assessment in clinical practice. Moreover, the variant spectrum associated with IKDs was expanded.

Published
2023
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