Objective To evaluate the outcome indicators in clinical research on TCM treatment for polycystic ovary syndrome(PCOS);To provide a theoretical basis for establishing the PCOS clinical core outcome indicator set.Methods Relevant clinical research about TCM treatment for PCOS was retrieved from CNKI,Wanfang Data,VIP,CBM,Embase,PubMed,Web of Science and Cochrane Library from 1st,Jan.2019 to 15th,Nov.2023.Research articles were screened based on predefined inclusion and exclusion criteria,and a comprehensive analysis was conducted on the extracted data.Results A total of 951 clinical studies were included(915 in Chinese and 36 in English),involving 86 369 patients,with 221 outcome indicators identified,and a total frequency of 8 991 occurrences.Analysis revealed that commonly used outcome indicators included hormone levels(such as luteinizing hormone,follicle-stimulating hormone,testosterone),overall efficacy rate,ovulation rate,pregnancy rate,TCM syndrome score,ovarian volume and insulin resistance index.However,there was considerable variation in the choice of indicators across different studies,and some indicators were misaligned with clinical needs,lacking a focus on long-term prognosis and safety.Conclusion Clinical research on TCM treatments for PCOS often demonstrates significant variability in outcome indicators,lack of clarity between primary and secondary indicators,disorganized description of indicators,diversity in the choice of measurement tools,and a lack of indicators for specific populations.These problems lead to difficulties in combining similar studies for meta-analysis and fail to provide high-level evidence-based clinical guidance.There is an urgent need to establish a core set of outcome indicators for clinical research on TCM treatment for PCOS.

Background::Cardiovascular disease (CVD) has emerged as the leading cause of death from prostate cancer (PCa) in recent decades, bringing a great disease burden worldwide. Men with preexisting CVD have an increased risk for major adverse cardiovascular events when treated with androgen deprivation therapy (ADT). The present study aimed to explore the prevalence and risk evaluation of CVD among people with newly diagnosed PCa in China.Methods::Clinical data of newly diagnosed PCa patients were retrospectively collected from 34 centers in China from 2010 to 2022 through convenience sampling. CVD was defined as myocardial infarction, arrhythmia, heart failure, stroke, ischemic heart disease, and others. CVD risk was estimated by calculating Framingham risk scores (FRS). Patients were accordingly divided into low-, medium-, and high-risk groups. χ2 or Fisher’s exact test was used for comparison of categorical variables. Results::A total of 4253 patients were enrolled in the present study. A total of 27.0% (1147/4253) of patients had comorbid PCa and CVD, and 7.2% (307/4253) had two or more CVDs. The enrolled population was distributed in six regions of China, and approximately 71.0% (3019/4253) of patients lived in urban areas. With imaging and pathological evaluation, most PCa patients were diagnosed at an advanced stage, with 20.5% (871/4253) locally progressing and 20.5% (871/4253) showing metastasis. Most of them initiated prostatectomy (46.6%, 1983/4253) or regimens involving ADT therapy (45.7%, 1944/4253) for prostate cancer. In the present PCa cohort, 43.1% (1832/4253) of patients had hypertension, and half of them had poorly controlled blood pressure. With FRS stratification, as expected, a higher risk of CVD was related to aging and metabolic disturbance. However, we also found that patients with treatment involving ADT presented an originally higher risk of CVD than those without ADT. This was in accordance with clinical practice, i.e., aged patients or patients at advanced oncological stages were inclined to accept systematic integrative therapy instead of surgery. Among patients who underwent medical castration, only 4.0% (45/1118) received gonadotropin releasing hormone antagonists, in stark contrast to the grim situation of CVD prevalence and risk.Conclusions::PCa patients in China are diagnosed at an advanced stage. A heavy CVD burden was present at the initiation of treatment. Patients who accepted ADT-related therapy showed an original higher risk of CVD, but the awareness of cardiovascular protection was far from sufficient.

Objective:To investigate the phenotypic heterogeneity and gene penetrance of a dopa-responsive dystonia (DRD) family.Methods:The clinical data of a four-generation DRD family (including 3 patients) admitted to Department of Neurology, China-Japan Friendship Hospital in November 2015 were retrospectively analyzed. The proband underwent whole exon sequence, and the genetic result was verified by Sanger sequencing. Sanger sequencing was performed in the other 14 subjects in the family; the genotypes and clinical manifestations were analyzed.Results:In 15 subjects underwent genetic testing, 7 had heterozygous mutations c.284G>A (p.P95L) in GCH1 gene; the penetrance of GCH1 gene mutation in this family was 0.43 (3/7), the gene penetrance in male was 0.25 (1/4), and the gene penetrance in female was 0.67 (2/3). Three subjects in the DRD family had clinical symptoms; the clinical symptoms of the two female patients were more severe than those of the male patient; the severity of clinical symptoms differed greatly between the 2 female patients. Conclusion:There is a wide intrafamilial phenotypic heterogeneity in DRD family members carrying the same gene mutation, and the phenotype is gender-related; the gene penetrance in male is lower than that in female, and the clinical phenotype is often milder.

Objective:To investigate the significance of Th1/Th2 cytokines in prognostic stratification of acute myeloid leukemia (AML).Methods:A total of 83 patients with newly diagnosed AML from June 2017 to April 2019 in the First People's Hospital of Yunnan Province were collected. According to the Chinese guidelines for diagnosis and treatment of adult acute myeloid leukemia (non-acute promyelocytic leukemia) (2017 edition), AML patients were divided into poor prognosis group (45 cases), moderate prognosis group (19 cases), and good prognosis group (19 cases); moderate prognosis plus poor prognosis was treated as the not good prognosis. Mann-Whitney U test and Kruskal-Wallis H test were used to compare the expression differences of Th1/Th2 cytokines in peripheral blood of different prognosis groups; cytokines with statistical differences among different prognosis groups were selected, and the cut-off value of AML patients with different prognostic stratification distinguished by cytokines was determined by using receiver operating characteristic (ROC) curve. Finally, patients were divided into ≥ cut-off value group and 0.05).The cut-off value of TNF-β was 3.23 pg/ml in good prognosis group and moderate prognosis group, the area under the ROC curve was 0.866 (95% CI 0.753-0.978, P < 0.05); among 26 patients with TNF-β≥ 3.23 pg/ml, 25 (96.2%) patients had not good prognosis. The cut-off value was 3.62 pg/ml for distinguishing between moderate prognosis group and poor prognosis group, the area under the ROC curve was 0.747 (95% CI 0.610-0.884, P = 0.02); 18 (100%) patients with TNF-β≥ 3.62 pg/ml had not good prognosis. The cut-off value was 2.19 pg/ml for distinguishing between good prognosis group and not good prognosis group, the area under the ROC curve was 0.719 (95% CI 0.595-0.842, P = 0.04); among 53 patients with TNF-β≥2.19 pg/ml, 46 (86.8%) patients had not good prognosis. Conclusions:The high expression of TNF-β may indicate that the prognosis of AML patients is not good. When the level of TNF-β was equal or greater than 3.62 pg/ml, it may contribute to the prognostic stratification of AML patients.

Objective:To explore the changes of cerebral blood flow (CBF) perfusion caused by N 2O (laughing gas) abuse. Methods:From December 2017 to October 2018, the CBF perfusion images of 24 patients with laughing gas abuse (9 males, 15 females; age: 18-32(24.0±8.9) years) from China-Japan Friendship Hospital were analyzed retrospectively. The region uptake statistics of different brain regions of interest (ROI) (basal ganglia, central region, cerebellum, cingulate gyrus, frontal lobe, medial temporal lobe, occipital lobe, parietal lobe, temporal lobe) between patients with laughing gas abuse and normal people of the same age group from background software database were calculated automatically. Statistic>1.68 indicated the increase of local CBF perfusion, while statistic < -1.68 indicated the decrease of local CBF perfusion. The correlation between the statistics of bilateral brain regions and the correlation between statistical values and clinical indicators were analyzed by Pearson and Spearman correlation analyses.Results:The correlation of the statistics between bilateral regions of each brain area was significant( r values: 0.503-0.892, all P<0.05). The decreased CBF proportions of frontal and temporal lobes were 62.5%(15/24) and 70.8%(17/24), respectively. The highest proportion of increased CBF was cingulate gyrus (33.3%, 8/24). There were significant correlations between frontal lobe, central brain area and duration of laughing gas abuse ( rs values: 0.375, 0.305, both P<0.05). Conclusion:CBF perfusion imaging is helpful for understanding the changes of CBF in patients with laughing gas abuse.

The clinical, neuroelectrophysiological, neuropathological characteristics and outcome of a case of acute sensory axonopathy are reported. The patient was a 32-year-old female. She presented with acute onset sensory abnormalities, sensory ataxia, pseudoathetosis and areflex. Lab testing showed cerebrospinal fluid albumin cytologic dissociation. Electromyography studies and sural nerve pathology were consistent with acute sensory axonopathy. Treatment including intravenous immunoglobulin and steroid therapy was provided. Her symptoms recovered slowly without relapse, so did tibial H-reflex amplitudes.

Objective:To investigate the clinical, neuropsychological and regional cerebral blood flow (rCBF) characteristics in patients with psychiatric symptoms caused by nitrous oxide abuse.Methods:Twelve patients with psychiatric symptoms caused by nitrous oxide abuse were enrolled from February 2018 to February 2020 in the Department of Neurology, China-Japan Friendship Hospital and the First Hospital of Tsinghua University.All patients were scored with the brief psychiatric rating scale (BPRS), Hamilton depression scale (HAMD), Hamilton anxiety scale (HAMA), mini-mental state examination (MMSE) and Montreal cognitive assessment (MoCA). The SPECT/CT images were collected with low-energy and high-resolution collimator.After the pictures were reconstructed, 18 brain regions were automatically sketched and calculated by Database Comparison software.The statistical value of the difference between the general mean value of each brain region and that of the corresponding region of interest in the same age group was estimated.Results:(1)The clinical manifestations of 12 patients were anxiety, depression, hallucination, delusion, and 7 patients were accompanied by cognitive decline.(2)Neuropsychological examination: BPRS score was 57.83±11.15 (anxiety depression factor was 3.94±0.47; lacking active factor was 3.25±0.85; thinking disturbance factor was 3.21±1.27; activity factor was 2.28±0.56; hostility factor was 3.14±1.24). The score of self-knowledge impairment was 2.92±1.08, the score of inability to work was 4.50±1.17, the score of HAMD was 32.75±10.13, the score of HAMA was 18.67±5.80, the score of MMSE was 27.67±2.50, and the score of MoCA was 24.58±3.78.(3)SPECT showed that compared with the general mean value of the corresponding regions of interest of normal people, the patients showed hypoperfusion in the frontal lobe (7 patients, 58.30%) and the temporal lobe (8 patients, 66.70%).Conclusion:Nitrous oxide abuse has an obvious effect on rCBF.The psychiatric symptoms include anxiety, depression, hallucination, delusion and so on, which affect the ability to work and learn.SPECT has important value in the diagnosis of nitrous oxide abuse, and indicates changes in local brain functional activity.

OBJECTIVE: To explore the clinical, neuropathological and genetic characteristics of a patient with Perrault syndrome caused by TWNK mutation. METHODS: Potential variation of the TWNK gene was detected by next-generation sequencing (NGS) and verified by Sanger sequencing. RESULTS: The patient has featured primary amenorrhoea and progressive sensorineural hearing loss since childhood. She also had gait anormaly, distal limb atrophy and weakness, and nystagmus. Further study confirmed sensory neuronopathy accompanied with upper and lower motor neuron involvement as well as cerebellum atrophy. NGS has identified two heterozygous variants of the TWNK gene, namely c.794G>A (p.Arg265His) and c.1181G>A (p.Arg394His). Sanger sequencing confirmed that c.1181G>A (p.Arg394His), a known pathogenic variant, was derived from her farther, while c.794G>A(p.Arg265His), a novel variant, was derived from her mother and likely pathogenic according to the ACMG guidelines. CONCLUSION Perrault syndrome is a group of disorders with a high phenotypic heterogeneity. The compound heterozygous variation of c.794G>A (p.Arg265His) and c.1181G>A(p.Arg394His) of the TWNK gene may underlie Perrault syndrome in the patient.
Child ; Female ; Genetic Testing ; Gonadal Dysgenesis, 46,XX ; Hearing Loss, Sensorineural ; Humans ; Pedigree

OBJECTIVE: To explore the clinical, electrophysiological and imaging features of a patient with Krabbe disease caused by GALC mutation. METHODS: A comprehensive analysis including clinical investigation and genetic testing was carried out. RESULTS: The patient presented with peripheral neuropathy with electrophysiological anomaly suggestive of asymmetric demyelinating neuropathy. Brain imaging revealed leukoencephalopathy. Genetic analysis has identified compound heterozygous mutations in exons 5 and 11 of the GALC gene, namely c.461C>A and c.1244G>A. CONCLUSION Krabbe disease is a group of disorders featuring substantial phenotypic heterogeneity. Genetic and enzyme testing has become indispensable for accurate diagnosis for this disease.
DNA Mutational Analysis ; Galactosylceramidase ; genetics ; Genetic Testing ; Humans ; Leukodystrophy, Globoid Cell ; complications ; genetics ; Mutation ; Peripheral Nervous System Diseases ; etiology

AIM:To screen and verify the effective ingredient of traditional Chines medicine (TCM) Q0409 in improving learning and memory ability of mice.METHODS:The mouse learning and memory impairment model was induced by intraperitoneal injection of scopolamine.The mice in each group were given the corresponding drug by gavage at the same time for 14 d in succession.Morris water maze test was used to measure the learning and memory ability of the mice, and then the hippocampal tissue homogenate was taken to determine the activity of acetylcholinesterase (AChE).The animals were divided into 8 groups according to L8(27) orthogonal table.The variance analysis and factorial analysis were used to analyze the pharmacological effects of seven kinds of single herbal in TCM Q0409 and determine the screening ingredients.The animals were divided into 6 groups according to the results of the preliminary screening results, and further testing and validation of TCM Q0409 screening ingredients were performed to get the final simplified ingredients.RESULTS:Three medicinal herbs of Polygalae, Panax ginseng and Acori graminei rhizome were screened by the orthogonal results of Morris water maze test and the activity of AChE in mouse hippocampal tissues.The simplified ingredients of TCM Q0409 were obtained through the variance results of Morris water maze test and the activity of AChE in mouse hippocampal tissues.CONCLUSION:Polygala and ginseng were eventually determined as simplified ingredients of TCM Q0409 and it was verified that they improve the learning and memory ability of the mice with learning and memory impairment.