Search

Purpose: This study reported the first case of Kohlschütter-Tönz syndrome (KTS) in China and reviewed the literature of the reported cases. Methods: This patient was registered at the Children's Hospital of Chongqing Medical University. The patient's symptoms and treatments were recorded in detail, and the patient was monitored for six years. We employed a combination of the following search terms and Boolean operators in our search strategy: Kohlschütter-Tönz syndrome, KTS, and ROGDI. These terms were carefully selected to capture a broad range of relevant publications in PubMed, Web of Science, WHO Global Health Library, and China National Knowledge Infrastructure, including synonyms, variations, and specific terms related to KTS. The pathogenicity of the variants was predicted using SpliceAI and MutationTaster, and the structures of the ROGDI mutations were constructed using I-TASSER. Results: This is the first case report of KTS in China. Our patient presented with epilepsy, global developmental delay, and amelogenesis imperfecta. A trio-WES revealed homozygous mutations in ROGDI (c.46-37_46-30del). The brain magnetic resonance imaging (MRI) and video electroencephalogram (VEEG) were normal. The efficacy of perampanel (PMP) in treating seizures and intellectual disability was apparent. Furthermore, 43 cases of ROGDI-related KTS were retrieved. 100% exhibited epilepsy, global developmental delay, and amelogenesis imperfecta. 17.2% received a diagnosis of attention deficit hyperactivity disorder (ADHD), and 3.4% were under suspicion of autism spectrum disorder (ASD). Language disorders were observed in all patients. Emotional disorders, notably self-harm behaviors (9.1%), were also reported. Conclusion: ROGDI-related KTS is a rare neurodegenerative disorder, characterized by three classic clinical manifestations: epilepsy, global developmental delay, and amelogenesis imperfecta. Moreover, patients could present comorbidities, including ADHD, ASD, emotional disorders, and language disorders. PMP may be a potential drug with relatively good efficacy, but long-term clinical trials are still needed. [ABSTRACT FROM AUTHOR]

Background: Chemotherapy-induced nausea and vomiting (CINV) is one of the most distressing side effects associated with deterioration in the quality of life. This study aimed to assess the clinical value of Huoxiang Zhengqi (HXZQ) oral liquid, a Chinese patent medicine, in combination with 5-HT3 receptor antagonists (RAs) and dexamethasone, in preventing CINV in patients receiving multiday cisplatin-based chemotherapy. Methods: In this multicenter, exploratory randomized clinical trial, the authors compared the efficacy of HXZQ oral liquid against a control group receiving a placebo, in combination with 5-HT3 RAs and dexamethasone, in preventing CINV in chemotherapy-naive patients receiving a multiday cisplatin-based regimen between January 2021 and September 2021. The primary endpoint was the complete response (CR) rate. The secondary endpoints included days with no CINV, the incidence of CINV, and life function. Results: Sixty patients were randomized into two groups and included in the study. The CR rate was significantly improved by HXZQ oral liquid in acute CINV (63.33% vs. 33.33%, p = 0.020) and CINV beyond the risk phase (96.67% vs. 46.67%, p = 0.000). The number of days with no CINV was significantly more in the HXZQ group compared with the control group in the overall phase (18.10 ± 3.64 vs. 12.13 ± 7.63, p = 0.002). Significantly higher Functional Living Index-Emesis total and domain scores were observed in the HXZQ group. Conclusions: HXZQ oral liquid combined with 5-HT3 RAs and dexamethasone is a feasible and safe approach to prevent CINV in patients receiving multiday cisplatin-based chemotherapy who cannot use neurokinin 1 RAs. Clinical Trial Registration: ChiCTR2000040123 [ABSTRACT FROM AUTHOR]

Uncaria rhynchophylla (UR), a traditional Chinese medicine, has been proven effective in treating hypertensive patients in China. However, the mechanisms of action of UR in reducing hypertension and myocardial fibrosis are still unclear. The purpose of this study was to explore the role of UR in an angiotensin Ⅱ (Ang Ⅱ) induced mouse model. The mice were randomly divided into 5 groups and infused with Ang Ⅱ (500 ng/kg/min) or saline, then administered UR (0.78, 1.56 or 3.12 g/kg/d) or saline for 4 weeks. UR treatment significantly attenuated the elevation of blood pressure caused by Ang Ⅱ. It enhanced myocardial function and attenuated the increase in the heart weight index and the pathological changes in the Ang Ⅱ-induced hypertensive mice. Furthermore, UR treatment inhibited cardiac fibrosis and significantly down-regulated collagen I, collagen Ⅲ, and α-SMA protein expression in cardiac tissues. UR also attenuated the expression of RhoA, ROCK1, CTGF, and TGF-β1. In cultured cardiac fibroblasts stimulated with Ang Ⅱ, UR significantly down-regulated the expression of Collagen I, Collagen III, RhoA, ROCK1, and α-SMA. In summary, UR can significantly attenuate Ang Ⅱ-induced hypertension and cardiac fibrosis, partly via suppression of the RhoA/ROCK1 signaling pathway. [Display omitted] • Uncaria Rhynchophylla treatment attenuates Ang Ⅱ-induced elevation of blood pressure. • Uncaria Rhynchophylla improves cardiac dysfunction and myocardial pathological changes in Ang II-induced hypertensive mice. • Uncaria Rhynchophylla treatment ameliorates cardiac fibrosis via suppression of the RhoA/ROCK1 pathway in vitro and in vivo. [ABSTRACT FROM AUTHOR]

• The current study involved 212 CWE from some major southwestern provinces of China. • SQ was used as a mediator in an attempt to discover the relationships of some clinical characteristics with SQ and QOL. • Assessment and improvement of SQ are necessary for interventions in epilepsy. • Factors with direct or mediated effects on the QOL of CWE need more exploration. Although sleep quality (SQ) reportedly affects the health-related quality of life (QOL) of patients with epilepsy, little is known about the potential association between SQ and QOL, particularly in children with epilepsy (CWE). Our study aimed to investigate the mediating effect of SQ on the QOL of CWE to obtain more information for the prevention and treatment of epilepsy in children. We collected general demographic and clinical data of 212 CWE and 79 controls (children who visited the Health Examination Department), and their guardians were instructed to answer the Children's Sleep Habits Questionnaire (CSHQ) and the optimized Quality of Life in Childhood Epilepsy Questionnaire-16 (QOLCE-16). The t -test, analysis of variance, chi-square test, and Fisher's exact test were used for between group comparisons. The Pearson correlation was used to analyze the correlation between variables. The direct, indirect, and total effects of predictors on the QOL of CWE were estimated based on an adjusted mediation model. CWE had significantly smaller long-term urban residence rates, less educated guardians, higher total CSHQ score, higher incidence of poor SQ, higher bedtime resistance, more sleep anxiety, worse sleep-disordered breathing, increased parasomnia, more daytime sleepiness, more frequent night waking, and greater sleep onset delay than controls (P < 0.05 for all). The univariable analysis showed significant differences in total CSHQ scores between CWE with different seizure frequency in the last month, whether or not drug-resistant epilepsy (DRE), and with different video electroencephalogram (VEEG) findings (P < 0.05 for all). Differences in QOLCE-16 scores between CWE with different guardian's employment status, age at diagnosis, number of anti-seizure medication (ASM) types, seizure frequency in the last month, DRE status, seizure type, VEEG findings, neuropsychological evaluation findings, magnetic resonance imaging (MRI) findings, and etiology were statistically significant (P < 0.05 for all). The correlation study indicated that the total CSHQ score was negatively correlated with the QOLCE-16 score (P < 0.05). The mediation analysis showed that DRE and VEEG abnormalities had a standardized direct effect on the QOL. Seizure frequency in the last month, DRE, and VEEG abnormalities had an indirect effect on the QOL through SQ, and their mediating effect values of SQ were 31.61 %, 13.45 %, and 14.35 %, respectively. Our findings uncovered the relationship of some clinical characteristics with SQ and QOL and characterized the nature of factors affecting the QOL of CWE. SQ could be a key factor in the prognosis of CWE experiencing epileptic seizures, and more attention should be paid on the management of SQ in interventions for epilepsy. [ABSTRACT FROM AUTHOR]

Background: Dissociative (conversion) disorder in children is a complex biopsychosocial disorder with high rates of medical and psychiatric comorbidities. We sought to identify the characteristics and outcomes of children with dissociative (conversion) disorders in western China. Methods: We conducted a retrospective cohort study of 66 children admitted with dissociative (conversion) disorders from January 2017 to July 2019, and analyzed their clinical characteristics, socio-cultural environmental variables, and personality and psychiatric/psychological characteristics. Binary logistic regression was used to analyze the variables associated with clinical efficacy. Results: Of these 66 patients, 38 (57.6%) were male and 28 (42.4%) were female, 46 (69.7%) had an antecedent stressor, 30 (45.5%) were left-behind adolescents, and 16 (24.2%) were from single-parent families. In addition, 30 patients (45.5%) were not close to their parents, 38 patients (59.4%) had an introverted personality, and 34 (53.1%) had unstable emotions. Thirteen families (19.7%) were uncooperative with the treatment. Patients who had cormorbid anxiety or depression exhibited significantly lower cognitive ability (P < 0.01). Logistic regression found that better treatment outcomes were positively associated with having a close relationship with parents, parental cooperation with treatment, and having a father with a lower level of education (i.e., less than junior college or higher). Conclusions: The characteristics and outcomes of children with dissociative (conversion) disorders are related to socio-cultural environmental variables and psychiatric/psychological factors. Timely recognition and effective treatment of dissociative (conversion) disorders are important. [ABSTRACT FROM AUTHOR]

Abstract Objective The Mini Sarcopenia Risk Assessment (MSRA), a new sarcopenia screening tool, has 2 versions: MSRA-7 (full version, 7 items) and MSRA-5 (short version, 5 items). We aimed to compare the diagnostic values of MSRA-7 and MSRA-5 to SARC-F for screening sarcopenia. Design A diagnostic accuracy study. Setting A community in Chengdu, China. Participants Older adults. Measurements Muscle mass, strength, and physical performance were tested using a bioimpedance analysis (BIA) device, handgrip strength, and walking speed, respectively. Using the Asian Working Group for Sarcopenia (AWGS) criteria as the gold standard, the sensitivity/specificity analyses of the 3 scales were assessed. Receiver operating characteristic (ROC) curves and area under the ROC curves (AUC) were used to compare the overall diagnostic accuracy of the 3 scales. Results We recruited 384 participants. Against the AWGS criteria, SARC-F had a sensitivity of 29.5% and a specificity of 98.1%, and the MSRA-7 had a sensitivity of 86.9% and a specificity of 39.6%, whereas the MSRA-5 had a sensitivity of 90.2% and a specificity of 70.6%. The AUCs of SARC-F, MSRA-7, and MSRA-5 were 0.89 [95% confidence interval (CI), 0.86-0.92], 0.70 (95% CI, 0.65-0.74), and 0.85 (95% CI, 0.81-0.89), respectively. The differences in AUCs between SARC-F and MSRA-7 and in those between MSRA-7 and MSRA-5 were statistically significant (P <.001), but the difference between SARC-F and MSRA-5 was not statistically significant (P =.130). Conclusion MSRA-5 may serve as a novel screening tool for sarcopenia in Chinese community-dwelling older adults. SARC-F, a class screening tool, is also suitable for this population. MSRA-5 and SARC-F demonstrated a similar diagnostic accuracy in our study population. MSRA-5 has better sensitivity, whereas SARC-F has better specificity. However, the diagnostic value of MSRA needs to be further validated in different populations. [ABSTRACT FROM AUTHOR]

Objectives To investigate the prevalence and associated factors of sarcopenia defined by different criteria in nursing home residents. Design A cross-sectional study. Setting Four nursing homes in Chengdu, China. Participants Elderly adults aged 65 years or older. Measurements We applied 4 diagnostic criteria [European Working Group on Sarcopenia in Older People (EWGSOP), Asia Working Group for Sarcopenia (AWGS), International Working Group on Sarcopenia (IWGS), and Foundation for the National Institutes of Health (FNIH)] to define sarcopenia. Muscle mass, strength, and function were measured based on bioimpedance analysis, handgrip strength, and walking speed, respectively. Nutrition status, activities of daily living, calf circumference (CC), and other covariates were evaluated. Results We included 277 participants. The prevalence of sarcopenia was 32.5%, 34.3%, 38.3%, and 31.4% according to the EWGSOP, AWGS, IWGS, and FNIH criteria, respectively. Fifty-eight participants (20.9%) were sarcopenic by all the 4 criteria. Regardless of the diagnostic criteria of sarcopenia, malnutrition was independently associated with sarcopenia [EWGSOP: odds ratio (OR) 4.02, 95% confidence interval (CI) 1.05-15.39; IWGS: OR 2.46, 95% CI 1.23-4.90; AWGS: OR 3.29, 95% CI 1.49-7.28; FNIH: OR 4.52, 95% CI 1.28-16.00], whereas CC was negatively associated with sarcopenia [EWGSOP: OR per standard deviation (SD) 0.32, 95% CI 0.20-0.52; IWGS: OR per SD 0.26, 95% CI 0.15-0.43; AWGS: OR per SD 0.32, 95% CI 0.19-0.52; FNIH: OR per SD 0.39, 95% CI 0.25-0.60]. Furthermore, falls ≥1 time in the past year were associated with AWGS-defined sarcopenia (OR 2.92, 95% CI 1.04-8.22). Conclusion/Implications Sarcopenia is highly prevalent in elderly Chinese nursing home residents regardless of the diagnostic criteria. Malnutrition and CC are associated with sarcopenia defined by different criteria. Therefore, it is important to assess sarcopenia and malnutrition in the management of nursing home residents. Prospective studies addressing the outcomes of sarcopenia in nursing home residents are warranted. [ABSTRACT FROM AUTHOR]

Purpose. The aim of the study is to assess the impact of a multifaceted education strategy for Uyghur patients with glaucoma on their anxiety, satisfaction, and comprehension of disease information in rural China. Methods. This study recruited 100 patients who were randomized into two groups: the control group that received a conventional consultation and the intervention group that received a multifaceted education approach. Information comprehension was evaluated using a 15-item questionnaire. A 6-item State-Trait Anxiety Inventory (STAI-6) score was used to assess patient anxiety levels. Satisfaction was evaluated on the day of discharge. Results. After education, patients in the intervention group scored significantly higher than those in the control group on their knowledge of glaucoma (p ≤ 0.001). Education level, family history of glaucoma, and number of glaucoma clinic visits were independently associated with baseline scores (p = 0.038, 0.002, and 0.017, respectively). The age was negatively correlated with scores (p ≤ 0.001) after education. The STAI-6 score of the intervention group was 28.50 ± 5.13, which was significantly lower than that of the control group (32.50 ± 6.47, p = 0.001). Income levels were negatively correlated and the duration of glaucoma was positively correlated with STAI-6 scores (p ≤ 0.001 and p = 0.003 , respectively). Overall satisfaction was significantly higher in the intervention group (p ≤ 0.001). The knowledge score was positively correlated with overall satisfaction and follow-up probability (both p ≤ 0.001). The STAI-6 score was negatively correlated with overall satisfaction and follow-up probability (p = 0.017 and 0.006, respectively). Conclusions. This new multifaceted educational strategy can enhance patients' knowledge of glaucoma, reduce their anxiety, and improve their satisfaction. ClinicalTrials.gov (No. 2100050926) [ABSTRACT FROM AUTHOR]

Studies on mortality and disability-adjusted life years (DALYs) of cardiovascular diseases (CVDs) attributable to exposure to ambient PM 2.5 in China are very limited. This study aims to provide a city-level estimation of the PM 2.5 -related disease burden of two major CVDs, ischemic heart disease (IHD) and stroke, by age and sex in Hubei province, China in 2016. PM 2.5 mass concentrations (μg/m3) at different cities were obtained from the Hubei Provincial Environmental Quality Supervision and Administration Bureau. The city-level demographic data in Hubei were obtained from the sixth demographic census of China in 2010. Sex- and age-specific mortality and DALY data were extracted from the Global Burden of Disease Study (GBD) 2016. The integrated exposure-response (IER) model, developed by the GBD, was used to estimate PM 2.5 -related CVD premature deaths and DALYs in Hubei province. We found that 55.76 thousand deaths and 1.11 million DALYs of IHD and stroke could be attributed to exposure to ambient PM 2.5 in Hubei. Disease burden of IHD and stroke attributable to PM 2.5 increased with age and were higher in males than in females. The PM 2.5 -related disease burden of IHD and stroke was mainly concentrated in the eastern part of Hubei. The highest population attributable fraction (PAF) of IHD and stroke was mainly concentrated in the western part of Hubei. Our findings suggest that China needs proper air quality management measures to effectively reduce ambient PM 2.5 , especially for cities with heavy disease burden. • PM 2.5 related cardiovascular deaths in city-level in Hubei Province were calculated. • PM 2.5 related cardiovascular DALYs in city-level in Hubei Province were calculated. • Results were calculated at city-level. [ABSTRACT FROM AUTHOR]