Precision medicine is a personalized medical system based on patients' individual biological information, clinical symptoms and signs, forming a new clinical research model and medical practice path. The basic idea of traditional Chinese medicine and the concept of precision medicine share many similarities. The basket trial developed for precision medicine is also suitable for clinical trials and evaluation of the efficacy of traditional Chinese medicine syndrome differentiation and treatment systems. Basket trials are used to evaluate the efficacy of a drug in the treatment of multiple diseases or disease subtypes. It has the advantages of sharing a master protocol, unifying management of subsidiary studies, simplifying the test implementation process, unifying statistical analysis, saving resources, reducing budgets and accelerating the drug evaluation progress. This is similar to the concept of using the "same treatment for different diseases" found in traditional Chinese medicine. This paper introduced the concept and method of basket trials and explored their application and advantages in clinical research into traditional Chinese medicine. This study is expected to provide references for the methodological innovation of clinical research into traditional Chinese medicine.
高血壓是我國重點防治的心血管疾病, 血壓的控制率備受關注。在一些血壓控制不良的患者中睡眠呼吸暫停是導致頑固性高血壓的重要原因。以睡眠過程中反復、頻繁出現呼吸暫停和低通氣為特點的睡眠呼吸暫停低通氣綜合征( sleep apneahypopnea syndrome, SAHS) 自20 世紀80 年代以來也受到廣泛關注, 臨床和基礎研究取得了迅速發展。目前, 多項臨床、流行病學和基礎研究證實SAHS可以導致和/ 或加重高血壓, 與高血壓的發生發展密切相關。
ObjectiveTo identify the causative gene in a family affected with Usher syndrome (USH) with retinitis pigmentosa sine pigmento (RPSP) and to analyze the genotype-phenotype correlation.MethodsA retrospective clinical study. A 9-year-old girl with RPSP type 1F USH diagnosed in the ophthalmology clinic of Henan Provincial People's Hospital in November 2019 and her parents were included in the study. The patient had bilateral night blindness for more than 4 years, she suffered from hearing loss 7 years, and is currently binaural sensorineural deafness. The best corrected visual acuity in both eyes was 0.5+. There was showed no obvious pigmentation on the fundus. The visual acuity of the peripheral field of vision decreased. Optical coherence tomography showed that the outer layer of the peripheral retina became thinner and the ellipsoid band disappeared. On electroretinogram examination, the rod and cone system response was severely decreased. The clinical phenotype of the parents of the child were normal. The peripheral venous blood of the child and his parents were extracted, the whole genome DNA was extracted, the custom developed targeted capture kit (PS400) was used, and the next-generation sequencing technology was used to detect genetic mutations. The suspected pathogenic mutation sites were verified by Sanger; co-segregation was performed among family members. The pathogenicity of variants were evaluated according to the interpretation standards and guidelines of sequence variants. Bioinformatics techniques were used to assess the impact of variants on encoded proteins.ResultsThe results of genetic testing showed that the proband detected the PCDH15 gene c.4109dupA (p.K1370fs) (M1), c.17dupA (p.Y6_L7delinsX) (M2) compound heterozygous mutation sites, verified by Sanger sequencing, the mutations were in the family in a state of co-segregation. According to the evaluation of sequence variation interpretation standards and guidelines, M1 and M2 were pathogenic variants of the PCDH15 gene. M1 led to a complete change in the transmembrane structure of the encoded protein, and M2 caused the gene to only translate 6 amino acids, which predicted that the PCDH15 protein cannot be synthesized. According to the clinical phenotype, gene mutation pathogenicity and protein structure prediction, the final clinical diagnosis was PCDH15-related type 1F.ConclusionsPCDH15 genes c.4109dupA and c.17dupA are the pathogenic mutation sites of USH in this family. These compound heterozygous new mutations lead to the failure of normal synthesis of PCDH15 protein, which leads to ocular and ear manifestations.
ObjectiveTo improve the clinicians’ understanding and treatment level of electrical status epilepticus during sleep by analyzing the clinical data of patients with ESES retrospectively.MethodsWe collected 20 cases from 2018 to 2019 diagnosed in our hospital by clinical and 24-hour video EEG confirmed and analyzed the clinical manifestations, EEG features, seizure type, classification of epilepsy syndrome as well as the imaging findings.ResultsAmong the 20 patients, there were 12 males and 8 females, the mean age was (10.96±2.68) years old, and the first onset age was (8.90±1.93) years old. Epilepsy seizure as the first symptom is most common, the EEG showed a broad or localized sustained discharge, generalized tonic clonic seizure is the main form of seizure type in most patients, ECSWS is the most prominent in the epilepsy syndrome, for small lesion through MR can be found early.ConclusionMost patients have partial or generalized seizures, which have a range of cognitive impairment, mental decline or other issues. It is important to improve the cognitive function, behavior, neuropsychology of patients by long term video EEG monitoring in the early stage.
Objective?To investigate the relationship between syndromes of traditional Chinese medicine (TCM) and lung function in patients with chronic obstructive pulmonary disease (COPD) at stable phase. MethodsBased on diagnostic criterion of TCM, five groups of symptoms of TCM about stable COPD were established including lung Qi deficiency, lung and spleen Qi deficiency, lung and kidney Qi deficiency, lung Spleen Kidney Qi deficiency, and deficiency of both Qi and Yin. A total of 300 cases which were up to the standard were differentiated into 5 groups by the symptoms. Some basic details and lung function of the patients were recorded, and then statistical analysis was performed to analyze the differences of lung function among groups. ResultsForced expiratory volume in the first second in descending order was lung Qi deficiency group, lung and spleen Qi deficiency group, lung and kidney Qi deficiency group, and lung spleen kidney Qi deficiency group (P<0.05). ConclusionThese findings suggest that with the progressing of COPD, the symptom type of TCM for COPD patients at stable phase may vary from lung Qi deficiency to lung and spleen Qi deficiency, or to lung and kidney Qi deficiency, and even lung, spleen and kidney Qi deficiency. Lung function tests help reveal substance and pathogenesis of TCM syndromes of patients with stable COPD, and provide evidence for the clinical syndrome.
由于高血壓的高患病率與高致殘致死率, 已經成為我國重點防治的心血管疾病和社會普遍關注的重大公共衛生問題之一。大量流行病學、臨床和基礎研究已證實睡眠呼吸暫停低通氣綜合征( sleep apnea-hypopnea syndrome, SAHS) 與高血壓發病和療效關系密切[ 1-8 ] , 是高血壓發生的主要病因之一, 由此“睡眠呼吸暫停相關性高血壓”一詞便應運而生[ 9-1 0] , 它是指由SAHS 引發和加重的高血壓。本期刊載的“阻塞性睡眠呼吸暫停相關性高血壓臨床診斷和治療專家共識”( 以下簡稱共識) , 為睡眠呼吸暫停相關性高血壓的診治提供了規范性的指導意見, 對推動我國該領域的防治水平有重要作用。我們期望“共識”能為讀者認識和防治睡眠呼吸暫停相關性高血壓提供必要的指導和幫助, 使我國為數眾多的睡眠呼吸暫停相關性高血壓患者得到規范的診治。
ObjectiveThe aim of this study was to investigate the value of Artificial Neural Networks (ANNs) in predicting the occurrence of Venous Thromboembolism (VTE) in patients with Obstructive Sleep Apnea (OSA), and to compare it with traditional Logistic regression models to assess its predictive efficacy, providing theoretical basis for the prediction of VTE risk in OSA patients. MethodsA retrospective analysis was conducted on patients diagnosed with OSA and hospitalized in the Department of Respiratory and Critical Care Medicine, Second Affiliated Hospital of Kunming Medical University, from January 2018 to August 2023. Patients were divided into OSA combined with VTE group (n=128) and pure OSA control group (n=680). The dataset was randomly divided into a training set (n=646) and an independent validation set (n=162). The Synthetic Minority Oversampling Technique (SMOTE) was employed to address the issue of data imbalance. Artificial Neural Networks and Logistic regression models were then built on training sets with and without SMOTE. Finally, the performance of each model was evaluated using accuracy, sensitivity, specificity, Youden's index, and Area Under the Receiver Operating Characteristic Curve (AUC). Results When oversampling was conducted using SMOTE on the training set, both the Artificial Neural Network and Logistic regression models showed improved AUC. The Artificial Neural Network model with SMOTE performed the best with an AUC value of 0.935 (95%CI: 0.898–0.961), achieving an accuracy of 90.15%, specificity of 87.32%, sensitivity of 93.44%, and Youden’s index of 0.808 at the optimal cutoff point. The Logistic regression model with SMOTE yielded an AUC value of 0.817 (95%CI: 0.765–0.861), with an accuracy of 77.27%, specificity of 83.80%, sensitivity of 69.67%, and Youden's index of 0.535. The difference in AUC between the Artificial Neural Network model and Logistic regression model was statistically significant after employing SMOTE (P<0.05). Conclusions The Artificial Neural Network model demonstrates high effectiveness in predicting VTE formation in OSA patients, particularly with the further improvement in predictive performance when utilizing SMOTE oversampling technique, rendering it more accurate and stable compared to the traditional Logistic regression model.
Objective To observe the clinical characteristics of idiopathic retinal vasculitis, aneurysms, and neuroretinitis (IRVAN) syndrome. Methods The clinical data of 3 patients with IRVAN syndrome which were diagnosed by systemic examination, fundus photography and fundus fluorescein angiography (FFA) were retrospectively analyzed. Results Idiopathic retinal vasculitis, which was induced by retinal arterial inflammation, multiple macroaneurysms of optic disc and retinal vessels, edema of optic disc, and exudation around the optic disc, was found in all of the 3 patients, multiple arteriolar aneurysms of optic disc and retinal vascular and exudative neuroretinitis. Two patients had peripheral retinal vascular nonperfusion area, which belonged to typical IRVAN syndrome. Conclusions The clinical characteristics of IRVAN syndrome include idiopathic retinal vasculitis which only involved in artery, multiple retinal macroaneurysms which located on the dissepiment of optic disc and retinal artery, and the neuroretinitis induced by exudation of retina and optic disc because of vasculitis and aneurysms. (Chin J Ocul Fundus Dis, 2007, 23: 180-183)
Objective With reference to the method of operationalization of concept in the field of sociology, this study developed a methodological framework for intervention trials of Chinese medicine (CM) under the mode of syndrome dominating disease. Methods First, an operational definition of the syndrome dominating disease research model was clarified to provide the scope and direction of the methodological framework construction. Then a scoping review was conducted to identify the design features of clinical researches under the model to summarize the basic structure and content of the framework; furthermore, in-depth interviews were carried out to collect the views and suggestions of CM experts on this type of study, which added details to the framework. Finally, a survey was conducted to evaluate the rationality and feasibility of the methodological framework. Results A total of 74 studies were included and 12 CM experts were interviewed, and the results of the literature and interview study were synthesized to form a preliminary methodological framework. Thirty-two experts participated in the survey and most of them held a positive assessment of the rationality of the framework, then according to the experts’ suggestions, the final methodological framework which was a four-level structure with 25 items was established. Conclusion Following the internationally recognized methods and steps, this study develops a rational and feasible methodological framework for CM trials under the mode of syndrome dominating disease, which can provide references for future studies’ design, implementation and evaluation.
ObjectiveTo evaluate the predictive value of critical illness scores for hospital mortality of severe respiratory diseases in respiratory intensive care unit (ICU).MethodsThe clinical data of the patients who needed intensive care and primary diagnosed with respiratory diseases from June, 2001 to Octomber, 2012 were extracted from MIMIC-Ⅲ database. The Acute Physiology Score (APS) Ⅲ, Simplified Acute Physiology Score (SAPS) Ⅱ, Oxford Acute Severity of Illness Score (OASIS), Logistic Organ Dysfunction System (LODS), Systemic Inflammatory Response Syndrome (SIRS) and Sequential Organ Failure Assessment (SOFA) were calculated according to the requirements of each scoring system. ICU mortality was set up as primary outcome and receiver operating characteristic (ROC) analysis was performed to evaluate the predictive performances by comparing the areas under ROC curve (AUC). According to whether they received invasive mechanical ventilation during ICU, the patients were divided into two groups (group A: without invasive mechanical ventilation group; group B: with invasive mechanical ventilation group). The AUCs of six scoring systems were calculated for groups A and B, and the ROC curves were compared independently.ResultsA total of 2988 patients were recruited, male accounted for 49.4%, median age was 67 (55, 79), and ICU mortality was 13.2%. The AUCs of SAPSⅡ, LODS, APSⅢ, OASIS, SOFA and SIRS were 0.73 (0.70, 0.75), 0.71 (0.68, 0.73), 0.69 (0.67, 0.72), 0.69 (0.67, 0.72), 0.67 (0.64, 0.70) and 0.58 (0.56, 0.62). Subgroup analysis showed that in group A, the AUCs of OASIS, SAPSⅡ, LODS, APSⅢ, SOFA and SIRS were 0.81 (0.76, 0.85), 0.80 (0.75, 0.85), 0.77 (0.72, 0.83), 0.75 (0.70, 0.80), 0.73 (0.68, 0.78) and 0.63 (0.56, 0.69) in the prediction of ICU mortality; in group B, the AUCs of SAPSⅡ, APSⅢ, LODS, SOFA, OASIS and SIRS were 0.68 (0.64, 0.71), 0.67 (0.63, 0.70), 0.65 (0.62, 0.69), 0.62 (0.59, 0.66), 0.62 (0.58, 0.65) and 0.57 (0.54, 0.61) in the prediction of ICU mortality. The results of independent ROC curve showed that the AUC differences between groups A and B were statistically significant in terms of OASIS, SAPSⅡ, LODS, APSⅢ and SOFA, but there were no significant differences in SIRS.ConclusionsThe predictive values of six critical illness scores for ICU mortality in respiratory intensive care are low. Lack of ability to predict ICU mortality of patients with invasive mechanical ventilation should hold primary responsibility.