ABSTRACT
Clinical data of two patients with congenital myasthenia syndrome type 22 (CMS22) treated at the Children′s Hospital of Fudan University from February 2019 to November 2021 were retrospectively analyzed, and relevant literatures were reviewed.Both patients were female, aged 3 months 18 days and 3 months 26 days, respectively, with typical clinical features of CMS (postnatal onset, skeletal muscle weakness, feeding difficulties, and delayed motor development). Genetic testing revealed that one patient had a homozygous frameshift mutation of the PREPL gene from maternal uniparental disomy c. 1282_1285del(p.F428fs*18), and the other one had a compound heterozygous mutation, including the paternal homozygous frameshift mutation of the PREPL gene and maternal monoallelic nonsense mutation and splicing mutation c. [1501G>T; 2020+ 1G>T], p.[G501*; -]. Two patients were treated with Pyridostigmine bromide at the age of 6 months old and 4 months old, respectively, and the medication last for 15 months and 3 months (still under treatment), respectively.The treatment was effective.Through literature review, 7 English language articles were retrieved, involving 13 cases (2 cases in the presented study were included). The main clinical symptoms of CMS22 included neonatal onset with feeding difficulties and motor development delay, accompanied by cognitive impairment, growth hormone deficiency, and obesity.Genetic testing is favorable to the early diagnosis, early treatment, and symptom relief.
ABSTRACT
Third-degree atrioventricular block is a severe bradyarrhythmia， for which there is no proven effective drugs currently. Permanent pacemaker implantation recommended by the guideline， however， is not suitable for most patients. This paper reported on a case of third-degree atrioventricular block after cardiac radiofrequency ablation who has been treated with the method of boosting qi， warming yang and unblocking collaterals. The TCM syndrome of this case was diagnosed as yang qi depletion and phlegm-stasis blocking the collaterals， for which Baoyuan Decoction and Mahuang Fuzi Xixin Decoction （保元汤合麻黄附子细辛汤） in modification has been used to boost qi， warm yang and raise the sunken， dissolve phlegm， invigorate blood and unblock collaterals. After nearly 7-month treatment， the symptoms such as palpitations， shortness of breath and fatigue were basically cured， and the electrocardiogram returned to the normal.
ABSTRACT
ObjectiveChronic heart failure （CHF） is the terminal stage of cardiovascular disease. The adverse cardiovascular events of CHF patients with weakness have increased significantly. Traditional Chinese medicine （TCM） has a good effect on CHF. However，there are few reports on the clinical observation of the treatment of CHF with weakness in elderly patients by TCM combined with conventional health-preserving exercises. This study aimed to explore the clinical efficacy of Qiangxin decoction combined with Baduanjin in the treatment of elderly patients with CHF and weakness. MethodSixty CHF patients with Qi deficiency，blood stasis，and water retention syndrome admitted to the Cardiovascular Department of the First Affiliated Hospital of Guangxi University of Chinese Medicine from January 2020 to December 2021 were enrolled. The patients in the control group were treated with conventional western medicine according to the guidelines，while those in the treatment group received additional Qiangxin decoction and Baduanjin exercise based on the therapeutic protocol of the control group. The levels of serum N-terminal B-type brain natriuretic peptide precursor （NT-proBNP），creatine kinase （CK），lactate dehydrogenase （LDH），free fatty acid （FFA），left ventricular ejection fraction （LVEF），left ventricular end-diastolic dimension （LEVDD），6-minute walk distance （6MWD），Minnesota Living with Heart Failure Questionnaire （MLHFQ）， and Tilburg Frailty Indicator （TFI） scores of the two groups were observed before and one month after treatment. At the same time，the re-admission within three months was compared between the two groups. ResultThere was no significant difference between the two groups in terms of the general data and the therapeutic indexes before treatment. After treatment，the NT-proBNP，CK，LDH，FFA，LVEDD，MLHFQ， and TFI scores of the two groups were lower than those before treatment（P<0.05，P<0.01）， and the LVEF and 6MWD were higher（P<0.05，P<0.01）. The efficacy of the treatment group was superior to that of the control group after treatment （P<0.05，P<0.01）. The re-admission rate within three months in the treatment group was 7.1% （2/28）， lower than 30.8% （8/26） in the control group （χ2=4.897，P<0.05）. ConclusionQiangxin decoction combined with Baduanjin is helpful to improve the body energy metabolism，heart function，quality of life，and weakness level of elderly CHF patients with weakness， and reduce the rate of re-admission.
ABSTRACT
The abnormality of long interspersed nuclear element-1 (LINE-1) is closely related to the occurrence and development of tumor.Overexpression of LINE-1 can promote cell proliferation and affect the prognosis and metastasis of tumor.The retrotransposition and methylation status of LINE-1 have potential application value in clinical diagnosis,prognosis,disease monitoring and treatment.