1.The study of SLC12A3 complicated heterozygotic mutation in Children Gitelman syndrome
Chunlin GAO ; Shangru MA ; Zhengkun XIA ; Yuanfu GAO ; Zhongmin FAN ; Min XU ; Wei WEI ; Yu ZHOU ; Guiling MO
Journal of Medical Postgraduates 2015;(1):37-40
Objective Gitelman Syndrome is a disease caused by the mutation of Na-Cl cotransporter gene(SLC12A3).The article studied the significance of diagnosis and identification by genetic mutation. Methods We collected the clinical data, then we sequenced the SLC12A3 gene by the first sequencing technology and MLPA. Results SLC12A3 complicated heterozygotic mutation was observed.One of them showed c.1964G>A, p.(Arg655His) and exon 8 deletion mutation, the other showed c.2543A>T, p.(Asp848Val) and c.976delG, p.(Val326fs) mutation of SLC12A3 gene in children. Conclusion The final diagnosis depended on gene diagnosis. Pediatrician must recognize the manifestations to advoid misdiagnosis.
2.Efficacy of metoprolol versus ivabradine in treatment of POTS in elderly patients after COVID-19 infection
Xiaonan GUAN ; Wenting LIU ; Wen HUANG ; Guiling MA ; Mei HU ; Dan QI ; Min ZONG ; Hua ZHAO ; Fei'ou LI ; Jianjun ZHANG
Chinese Journal of Geriatric Heart Brain and Vessel Diseases 2024;26(3):280-283
Objective To explore the difference in efficacy of metoprolol versus ivabradine in the treatment of postural orthostatic tachycardia syndrome(POTS)in the elderly after COVID-19 infection.Methods A total of 110 patients diagnosed with POTS at our department from Decem-ber 1,2022 to January 31,2023 were included.According to their drug regimen,they were divided into metoprolol group(62 patients)and ivabradine group(48 patients).On the 28th day of out-patient follow-up,the resting heart rate,heart rate of 10 min of standing,symptom disappearance rate,hospitalization rate,and mortality rate were compared between the two groups.Results On the 28th day of treatment,the resting heart rate and postural heart rate for 10 min were decreased in both groups when compared with the levels at initial diagnosis(P<0.01).And there were no significant differences in the two types of heart rate between the two groups on the 28th day(71.0±7.0 vs 72.1±7.0,P=0.401;76.5±7.2 vs 77.4±7.6,P=0.573).No obvious differences were observed between the two groups in symptom disappearance rate,hospitalization rate,or mortality rate(88.7%vs 89.6%,3.2%vs2.1%,0%vs 0%,P>0.05).Conclusion Metoprolol and ivabradine can effectively treat POTS in the elderly patients after COVID-19 infection.
3.Primary Screening for Breast Diseases among 17618 Women in Wufeng Area, a Region with High Incidence of Cervical Cancer in China
ZHANG QINGHUA ; LIU DAN ; HANG CHUANYING ; HU TING ; SHEN JIAN ; HU MEILING ; YANG RU ; CHEN ZHILAN ; LAI ZHUHUI ; LIU GUILING ; MEI YEDONG ; XIANG QUNYING ; LI XIONG ; HUANG KECHENG ; WANG SHAOSHUAI ; PAN XIUYU ; YAN YUTING ; LI YE ; CHEN QIAN ; XI LIN ; DENG DONGRUI ; WANG HUI ; WANG SHIXUAN ; LU YUNPING ; MA DING ; LI SHUANG
Journal of Huazhong University of Science and Technology (Medical Sciences) 2012;32(2):252-256
In this study,the current status for breast diseases in a region with high-incidence of cervical cancer were epidemiologically investigated.From March to August,2009,17618 women,from Wufeng area of Hubei province,China,were recruited to screen breast diseases by using breast infrared diagnostic apparatus.Other diagnostic methods,such as B-mode ultrasound,X-ray mammography,needle biopsy and pathological examination were,if necessary,used to further confirm the diagnosis.The screening showed that 5990 of 17618 cases (34.00%) had breast diseases,5843 (33.16%) had mammary gland hyperplasia,48 (0.27%) had breast fibroadenoma,ll (0.06%) had breast carcinoma,and 88 (0.50%) had other breast diseases.The peak morbidity of breast cancer was found in the women aged 50-0 ages.The morbidity of breast cancer was significantly increased in women elder than or equal to 50 years old (n=8,0.157%) in comparison with that in the subjects younger than 50 years old (n=3,0.024%) (u=2.327,P<0.05).It was shown that the occurrence of breast diseases was concentrated in women aged 20-40 years,while the total morbidity reached its peak at the age of 30 years and then decreased sharply after age of 40.Compared with the patients elder than or equal to 40 years old (n=3289,27.46%),the morbidity rate of breast diseases was significantly increased in women less than 40 years old (2648 cases,47.18%; P<0.001).However,there was no significant difference in the morbidity of breast diseases between the age group of 20-29 years and that of 30-39 years (P=0.453),and both of them were high.There was no significant association between the morbidity of breast diseases and cervical cancer.Since the morbidity of breast diseases was higher among young women,more attention should be paid to the screening of breast diseases among young women for early diagnosis.