[Progress of circulating tumor DNA methylation for gastric cancer screening and management].

Circulating tumor DNA (ctDNA) is cell-free DNA released by tumors or circulating tumor cells, containing abundant tumor-specific information that can serve as biomarkers for cancer early screening, monitoring, prognosis, and prediction of treatment response. This is particularly attractive in the field of gastric cancer, where high-quality screening, monitoring, and prediction methods are currently lacking. Gastric cancer exhibits significant tumor heterogeneity, with large differences in genetic and epigenetic characteristics among different subgroups. Methylated ctDNA has high sensitivity and specificity, which can help clarify tumor genotyping and facilitate the formulation of precise diagnostic and therapeutic strategies. Furthermore, numerous studies have confirmed the unique advantages of methylated DNA in predicting treatment response, adjuvant therapy, and drug resistance assessment, which may be used in the future to enhance the efficacy of chemotherapy regimens and improve patient chemotherapeutic response, and even treat multidrug resistance. However, there are several challenges associated with methylated ctDNA, such as low sensitivity and specificity at single-target sites, limited association between some gastric cancer subtypes and ctDNA, off-target risks, and the lack of large-scale and high-quality clinical research evidence. This review mainly summarizes current research on the methylation status of ctDNA in gastric cancer and connects these findings to early screening, recurrence monitoring, and potential treatment opportunities for gastric cancer. With advances in technology and the deepening of interdisciplinary research, ctDNA detection will reveal more disease information and become an essential foundation for gastric cancer research and precision medicine treatment.

[Analysis of tuberculosis epidemiological characteristics and drug resistance among the floating population in Beijing in 2019].

Objective: To analyze the epidemic characteristics and drug resistance of pulmonary tuberculosis among the floating population in Beijing and to provide a scientific basis for formulating strategies for the prevention and control of tuberculosis among the floating population. Methods: Data of tuberculosis patients who were positive for Mycobacterium tuberculosis culture was collected from 16 districts and one municipal institution of tuberculosis control and prevention in Beijing in 2019. The strain samples were tested for drug sensitivity by the proportional method. According to household registration location, patients were divided into the floating population and Beijing registration. SPSS 19.0 software analyzed tuberculosis patients' epidemic characteristics and drug resistance in the floating population. Results: In 2019, there were 1 171 culture-positive tuberculosis patients in Beijing, among the floating population, 593 (50.64%) patients were identified, with a male-to-female sex ratio of 2.2∶1 (409∶184). Compared to patients under household registration as Beijing residents, a higher proportion of young adults aged 20-39 years (65.09%,386/593) were noticed, with 55.65% (330/593) reported from the urban areas and 96.80% (574/593) were reported the first time. The differences were statistically significant (all P<0.05). After completing the drug sensitivity test, 37 cases were with multiple drug-resistant tuberculosis, accounting for 6.24% (37/593). The rates of isoniazid resistance (42.11%,8/19) and multidrug resistance (21.05%,4/19) in floating population patients after retreatment were significantly higher than those in newly treated patients (11.67%, 67/574 and 5.75%, 33/574), and the differences were statistically significant (all P<0.05). Conclusions: Most patients with tuberculosis in the floating population in Beijing in 2019 were young males aged 20-39 years. The reporting areas were urban areas and the newly treated patients mainly. The patients with tuberculosis in the re-treated floating population were more likely to suffer from multidrug and drug resistance, which should be taken as the key population for prevention and control.

Enhancement of blue and ultraviolet components in PCF-based supercontinuum generation through inter-modal dispersive-wave radiation.

Broadband supercontinuum (SC) light sources generated through nonlinear effects in solid-core photonic crystal fibers (PCFs) have been widely used in spectroscopy, metrology, and microscopy, leading to great application successes. The short-wavelength extension of such SC sources, a longstanding challenge, has been the subject of intensive study over the past two decades. However, the exact mechanism of blue and ultraviolet light generation, especially for some resonance spectral peaks in the short-wavelength regime, is not yet fully understood. Here, we demonstrate that the effect of inter-modal dispersive-wave radiation, which results from phase matching between pump pulses at the fundamental optical mode and packets of linear waves at some higher-order modes (HOMs) propagating in the PCF core, might be one of the critical mechanisms that can result in some resonance spectral components with wavelengths much shorter than that of the pump light. We observed in an experiment that several spectral peaks resided in the blue and ultraviolet regimes of the SC spectrum, whose central wavelengths can be tuned by varying the PCF-core diameter. These experimental results can be interpreted well using the inter-modal phase-matching theory, providing some useful insights into the SC generation process.

[Progress in diagnosis and treatment of ovarian metastases in rectal cancer].

Rectal cancer is the most common tumor of digestive tract. For female patients, ovarian metastasis ranks the second place in intraperitoneal organ metastasis. Its symptoms are occult, easily missed and insensitive to systemic treatment, so the prognosis is poor. Surgery is the treatment of choice for patients with rectal ovarian metastases, whether R0 resection is possible or not, and reducing tumor load is associated with better prognosis. With the continuous development of hyperthermic intraperitoneal chemotherapy (HIPEC), tumor reduction can reach the cellular level, which can significantly improve survival. Prophylactic ovariectomy remains a controversial issue in patients at high risk of ovarian metastasis. In this review, we summarize the diagnosis, treatment and prevention strategies of rectal cancer ovarian metastases, hoping to provide some reference for clinical practice.

Exposure to anti-Black Lives Matter movement and obesity of the Black population.

RATIONALE: Black Lives Matter (BLM) is a social movement against systematic injustice and police violence toward Black people whose goal is to ensure their safety and the expression of their culture. As BLM gained momentum, counter-movements emerged, such as All Lives Matter (ALM), White Lives Matter (WLM), and Blue Lives Matter (BlueLM). Because they undermine support for Black people's safety and culture, exposure to stances against BLM can be a race-related stressor. Although the perception of racial discrimination has been associated with negative health outcomes in Black people, it is not clear whether exposure to negative stances on a race-related social issue is associated with worse health outcomes. OBJECTIVE: We investigated whether living in areas of the United States with a high prevalence of negative stances on BLM is associated with worse health outcomes, such as higher body mass index (BMI) and prevalence of obesity. METHODS: We scraped geo-coded tweets (N = 51,020) that contained #BLM, #ALM, #WLM, and #BlueLM from 2014 to 2016. We determined the stances of the tweets on BLM using machine learning algorithms and aggregated stances at the metropolitan or micropolitan statistical area (MMSA) levels. Participants' BMI and obesity status were derived from the 2017 BRFSS SMART data in 76 MMSAs, as compiled by the Centers for Disease Control and Prevention (N = 20,530). RESULTS: After controlling for individual- and regional-level covariates, regional measures of racism and police brutality rate, and baseline BMI in 2014 aggregated on MMSA level, Black people had a higher BMI and prevalence of obesity in areas that showed higher negative stances on BLM. Stances against BLM were positively associated with implicit racism against Black people and can be an acute race-related stressor associated with negative downstream health outcomes. CONCLUSION: Negative societal sentiments around race-related issues may be detrimental to the health outcomes of minority populations.

[A descriptive analysis of tea consumption in adult twins in China].

Objective: To describe the distribution characteristics of tea consumption in adult twins recruited in the Chinese National Twin Registry (CNTR) and provide clues to genetic and environmental influences on tea consumption. Methods: Enrolled in CNTR during 2010-2018, 25 264 twin pairs aged 18 years and above were included in subsequent analysis. Random effect models were used to estimate tea consumption in the population and regional distribution characteristics. The concordance rate of the behavior and difference in consumption volume of tea within pairs were also described. Results: The mean age of all subjects was (35.38±12.45) years old. The weekly tea consumers accounted for 17.0%, with an average tea consumption of (3.36±2.44) cups per day. The proportion of weekly tea consumers was higher among males, 50-59 years old, southern, urban, educated, and the first-born in the twin pair (P<0.05), and lower among unmarried individuals (P<0.001). Within-pair analysis showed that the concordance rate of tea consumption of monozygotic (MZ) twins was higher than that of dizygotic (DZ) twins and the overall heritability of tea consumption was 13.45% (11.38%-15.51%). Stratified by the characteristics mentioned above, only in males, the concordance rate of MZ showed a tendency to be greater than that of DZ (all P<0.05). The differences in consumption volume of tea within twin pairs were minor in MZ among males (P<0.05), while the differences were not significant in female twins. Conclusion: There were discrepancies in the distribution of tea consumption among twins of different demographic and regional characteristics. Tea consumption was mainly influenced by environmental factors and slightly influenced by genetic factors. The size of genetic factors varied with gender, age, and region, and gender was a potential modified factor.

[A descriptive analysis on type 2 diabetes in twins in China].

Objective: To describe the distribution characteristics of type 2 diabetes in twins in Chinese National Twin Registry (CNTR), provide clues and evidence for revealing the influence of genetic and environmental factors for type 2 diabetes. Methods: Of all twins registered in the CNTR during 2010-2018, a total 18 855 twin pairs aged ≥30 years with complete registration information were included in the analysis. The random effect model was used to describe the population and area distribution characteristics and concordance of type 2 diabetes in twin pairs. Results: The mean age of the subjects was (42.8±10.2) years, the study subjects included 10 339 monozygotic (MZ) twin pairs and 8 516 dizygotic (DZ) twin pairs. The self-reported prevalence rate of type 2 diabetes was 2.2% in total population and there was no sighificant difference between MZ and DZ. Intra-twin pairs analysis showed that the concordance rate of type 2 diabetes was 38.2% in MZ twin pairs, and 16.0% in DZ twin pairs, the difference was statistically significant (P<0.001). The concordance rate of type 2 diabetes in MZ twin parts was higher than that in DZ twin pairs in both men and women, in different age groups and in different areas (P<0.05). Further stratified analysis showed that in northern China, only MZ twin pairs less than 60 years old were found to have a higher concordance rate of type 2 diabetes compared with DZ twin pairs (P<0.05). In southern China, the co-prevalence rate in male MZ twin pairs aged ≥60 years was still higher than that in DZ twin pairs (P<0.05). Conclusion: The twin pairs in this study had a lower self-reported prevalence of type 2 diabetes than the general population. The study results suggested that genetic factors play a role in type 2 diabetes prevalence in both men and women, in different age groups and in different areas, however, the effect might vary.

[A descriptive analysis on coronary heart disease in adult twins in China].

Objective: To describe the distribution characteristics of coronary heart disease in adult twins recruited from Chinese Twin Registry (CNTR), and provide clues and evidence for the effect of genetic and environmental influences on coronary heart disease. Methods: By using the data of CNTR during 2010-2018, a total of 34 583 twin pairs aged ≥18 years who completed questionnaire survey and had related information were included in the current study to analyze the population and area distribution characteristics of coronary heart disease. Random effect models were used to compare the differences between groups. The concordane rate of coronary heart disease were calculated respectively in monozygotic (MZ) twin pairs and dizygotic (DZ) twin pairs to estimate the heritability. Results: The twin pairs included in this analysis were aged (34.2±12.4) years. The overall prevalence rate of coronary heart disease in twin pairs was 0.7%. Twin pairs who were women, older, obese and lived in northern China had higher prevalence of coronary heart disease (P<0.05). Intra-pair analysis in the same-sex twin pairs found that the concordane rate of coronary heart disease was higher in MZ twin pairs (25.3%) than in DZ twins (7.4%), and the difference was statistically significant (P<0.001). The overall heritability of coronary heart disease was 19.3% (95%CI: 11.8%-26.8%). Stratified by gender, age and area, the concordane rate was still higher in MZ twin pairs than in DZ pairs. Participants who were women, aged 18-30 years or ≥60 years and lived in northern China had a higher heritability of coronary heart disease. Conclusion: The distribution of coronary heart disease in twin pairs differed in populations and areas. The prevalence of coronary heart disease was affected by genetic factors, but the effect varied with age, gender and area.

[Hepatic cystic echinococcosis complicated with tuberculous empyema misdiagnosed as hepatic and pulmonary cystic echinococcosis: one case report].

Hepatic cystic echinococcosis is a chronic parasitic disease caused by the infection with the larvae of Echinococcus granulosus in human or animal liver tissues. As a chronic active infectious disease, tuberculous empyema mainly invades the pleural space and then causes visceral and parietal pleura thickening. It is rare to present comorbidity for hepatic cystic echinococcosis and tuberculous empyema. This case report presents a case of hepatic cystic echinococcosis complicated with tuberculous empyema misdiagnosed as hepatic and pulmonary cystic echinococcosis, aiming to improve clinicians' ability to distinguish this disorder.

Peroxiredoxin 4 directly affects the male fertility outcome in porcine.

Peroxiredoxins (Prdxs) are known to play a critical role in regulating male fertility as antioxidant enzymes. Although several studies have suggested a close association between Prdxs and male fertility, few studies have explored the efficacy of Prdxs to predict male fertility. Therefore, the current study was designed to discover the most efficient biomarkers among the Prdxs with six isoforms. Our study showed a significant positive correlation between the litter size and the levels of PRDX 4 among all isoforms in spermatozoa. Subsequently, a regression analysis using a combination of markers was conducted to increase efficacy for fertility prediction. Nevertheless, PRDX4 had the highest efficacy compared to other combination models to predict litter size. The prediction accuracy of male fertility was further evaluated through receiver operating characteristic curve analysis, which showed that PRDX 4 could predict the litter size with high overall accuracy of 95%. Moreover, litter size was increased by 1.55 piglets after predicting high litter size using PRDX 4. This is the first study to comprehensively elucidate the role of all isoforms of PRDXs on male fertility to the best of our knowledge. PRDX 4 was tested and evaluated up to a practical level. Data here reported suggesting PRDX 4 marker allowed the highest accuracy for male fertility prediction and diagnosis, leading to a measurable improvement in the male fertility outcome.

Immune checkpoint inhibitors and cellular treatment for lymphoma immunotherapy.

Malignant lymphoma (ML) is a common hematological malignancy with many subtypes. Patients with ML usually undergo traditional treatment failure and become relapsed or refractory (R/R) cases. Recently, immunotherapy, such as immune checkpoint inhibitors (ICIs) and cellular treatment, has gradually emerged and used in clinical trials with encouraging achievements for ML treatment, which exerts anti-tumor activity by blocking the immune evasion of tumor cells and enhancing the attack ability of immune cells. Targets of immune checkpoints include programmed cell death-1 (PD-1), programmed cell death-ligand 1 (PD-L1), cytotoxic T lymphocyte-associated protein 4 (CTLA-4), T cell immunoglobulin and ITIM domain (TIGIT), T cell immunoglobulin-3 (TIM-3) and lymphocyte activation gene 3 (LAG-3). Examples of cellular treatment are chimeric antigen receptor (CAR) T cells, cytokine-induced killer (CIK) cells and natural killer (NK) cells. This review aimed to present the current progress and future prospects of immunotherapy in lymphoma, with the focus upon ICIs and cellular treatment.

[Analysis on related factors of myocardial fibrosis in patients with hypertrophic cardiomyopathy].

Objective: To investigate the related factors of myocardial fibrosis in patients with hypertrophic cardiomyopathy. Methods: Patients with hypertrophic cardiomyopathy, hospitalized in the First People's Hospital of Yunnan Province from January 2016 to May 2020, were included in this cross-sectional study. Patients were divided into delayed enhancement positive group (fibrosis group) and non-delayed enhancement group (non-fibrosis group). According to the maximum left ventricular end diastolic wall thickness (LVMWT), patients in the fibrosis group was further divided into mild hypertrophy group, moderate hypertrophy group and severe hypertrophy group. The baseline clinical data of patients were collected by medical record management system. All enrolled patients underwent cardiac magnetic resonance imaging (CMR). The presence and location of myocardial fibrosis were identified by CMR gadolinium contrast delayed enhancement (LGE). The range of LGE (LGE%) was calculated by visual analysis. The levels of N-terminal pro-B-type natriuretic peptide (NT-proBNP) and cardiac troponin I (cTnI) in peripheral blood were measured. Results: A total of 48 patients ( age (46.4±14.3) years, 42 (87.5%) males) were enrolled. There were 34 LGE positive cases (fibrosis group) and 14 LGE negative cases (non-fibrosis group). Compared with non-fibrosis group, patients in fibrosis group were younger (P=0.038) and prevalence of NYHA grade Ⅲ/Ⅳ was higher (P=0.00). Compared with non-fibrosis group, patients in fibrosis group had thicker LVMWT (P= 0.008), higher left ventricular mass index(LVMI) (P=0.001), higher left ventricular end diastolic volume (LVEDV) (P=0.043), lower left ventricular ejection fraction (LVEF) and cardiac index (CI) (all P <0.05). The levels of NT-proBNP and cTnI were significantly higher in fibrosis group than in non-fibrosis group (2 760.5 (1 503.4, 3 783.6) ng / L vs. 861.3 (552.2, 1 092.8) ng / L, P=0.002; 0.970 (0.448, 1.684)µg / L vs. 0.147 (0.033, 0.251)µg / L, P=0.041).In fibrosis group, there were 15 cases of mild hypertrophy (mild hypertrophy group), 10 cases of moderate hypertrophy (moderate hypertrophy group), and 9 cases of severe hypertrophy (severe hypertrophy group). The LGE% and NT-proBNP and cTnI increased in proportion with increasing myocardial hypertrophy (P<0.05). LGE% was negatively correlated with age (r=-0.618, P=0.011), and positively correlated with NT-proBNP and cTnI levels (r=0.271, P=0.010; r=0.111,P=0.013, respectively), and positively correlated with LVEDV, LVMWT and LVMI (r=0.438, P=0.09; r=0.735, P=0.001; r=0.532, P=0.034, respectively). Conclusions: In patients with hypertrophic cardiomyopathy, the extent of myocardial fibrosis increases with the increase of myocardial hypertrophy. Myocardial fibrosis is negatively correlated with age, and positively correlated with NT-proBNP and cTnI, as well as LVEDV, LVMWT and LVMI in this patient cohort.

[Progress of researches on roles of dendritic cells in immune tolerance caused by Echinococcus infections].

Dendritic cells (DCs), a type of antigen-presenting cells (APC), are recognized as an important regulator of immune response and immune tolerance, and play a critical role in the host innate immunity and adaptive immunity. Previous studies have shown that the long-term parasization of Echinococcus in the host is strongly associated with the host immune tolerance induced by DCs. This review summarizes the research progress of the role of DCs in host immune tolerance caused Echinococcus infection, aiming to provide the theoretical basis and insights into the management and immunotherapy of Echinococcus infections.

Relationship between bone strength index of the hemiparetic tibial diaphysis and muscle strength in people with chronic stroke: influence of muscle contraction type and speed.

This study was conducted to examine the association between the tibial bone strength index and leg muscle strength of different contraction types and speeds among people with chronic stroke. We found that concentric muscle power at moderate speed was more associated with tibial bone strength index than other types. INTRODUCTION: To compare the influence of muscle strength of different contraction types and speeds on the bone strength index of tibial diaphysis in people with chronic stroke. METHODS: Eighty individuals with chronic stroke (age: 62.6 ± 8.0 years; men/women: 46/34; post-stroke duration: 9.0 ± 5.4 years) underwent scanning of the tibia at the 66% site on both sides using peripheral quantitative computed tomography. Each participant was also evaluated for isometric and dynamic (at 60°/s and 120°/s) strength of knee flexors/extensors and ankle dorsiflexors/plantarflexors using an isokinetic dynamometer. For a given contraction type and speed, the strength values of the four muscle groups were summed to yield a composite score. Multiple regression analysis was used to identify the association of the percent side-to-side difference (%SSD) in tibial polar-stress-strain index (p-SSI) with %SSD in muscle strength of different contraction types and speeds. RESULTS: The p-SSI and all muscle strength parameters on the paretic side had lower values than the non-paretic side (p ≤ 0.001). The %SSD in concentric muscle power at angular speed of 60°/s (R2 = 0.317, p = 0.006) and 120°/s (R2 = 0.298, p = 0.020) remained independently associated with that in p-SSI, after controlling for age, sex, body mass index, post-stroke duration, motor impairment, spasticity, and physical activity level. The effect of isometric strength and eccentric muscle power was not significant in multivariate analysis. CONCLUSIONS: Concentric muscle power was more predictive of %SSD in p-SSI at the tibial diaphysis than other contraction types and may be an important target for intervention to promote bone health in people with chronic stroke.

[Analysis of clinical characteristics, treatment and survival of elderly patients with large diffuse B-cell lymphoma].

Objective: To analyze the clinical feature,treatment and survival outcome of elderly patients older than 80 years with large diffuse B-cell lymphoma. Methods: A total of 46 patients aged over 80 years with large diffuse B-cell lymphoma who were treated in Third Hospital of Peking University during the period from 2002 to 2018 were retrospectively analyzed, and the clinical features, laboratory data, survival and prognostic factors were included in Kaplan-Meier and prognostic analysis. Results: Patients older than 80 years old accounted for 15.7% (46/293) in all elderly patients, and the median age was 83 years old. There were 78.3% (36/46)patients who belonged to stage Ⅲ or Ⅳ, 63%(29/46) who had more than two extranodal organ involvement, and the higher proliferation index(Ki-67≥80%) was present in 53.7%(22/41) patients. Immunohistochemistry showed that 37% patients in 27 cases were double-expressed DLBCL. With a median follow-up of 25 months, the overall response rate (ORR) for the whole group was 63.0%, the complete response (CR) rate was 36.4%, the 2, 3-year progression-free survival (PFS) rate was 49.9% and 41.7%, the 2, 3-year overall survival (OS) rate was 54.6% and 43.6% respectively. The ORR for patients who received anthracycline-based therapies and non-anthracycline-based therapies were 81.8% and 55.0%, and the 3-year OS rate were 50.0% and 39.0%, respectively, but the difference was not statistically significant (P>0.05). 45.5% patients had hematologic toxicity of Grade Ⅲ or above, and 56.8% patients experienced infections during the treatment. Among the patients who died, the treatment-related mortality rate in group with high score of Charlson comorbidity index(CCI) was higher (43.8% vs 16.7%, P=0.03) . The National Comprehensive Cancer Network International Prognostic Index (NCCN-IPI) score, nodal involvement area ≥3, 6 cycles of chemotherapy, CCI score, initial treatment outcome and refractory-relapsed were predictive of overall survival. Multivariate analysis indicated the CCI score (HR=6.463, P=0.008) and initial treatment outcome (HR=0.086, P=0.001) were independent prognostic risk factors. Conclusions: The clinical and pathological features of patients older than 80 years were highly aggressive with poor chemotherapy tolerance and high adverse reaction rate. Anthracycline-based therapies may be less important in the treatment of DLBCL patients aged over 80 years. Patients with high CCI score have higher treatment-related mortality and CCI can help identify elderly patients who are suitable for larger chemotherapy dose.

Single-scan, dual-functional interferometer for fast spatio-temporal characterization of few-cycle pulses.

Accurate and fast characterization of spatio-temporal information of high-intensity, ultrashort pulses is crucial in the field of strong-field laser science and technology. While conventional self-referenced interferometers were widely used to retrieve the spatial profile of the relative spectral phase of pulses, additional measurements of temporal and spectral information at a particular position of the laser beam, however, were necessary to remove the indeterminacy, which increases the system complexity. Here we report an advanced, dual-functional interferometer that is able to reconstruct the complete spatio-temporal information of ultrashort pulses with a single scan of the interferometer arm. The setup integrates an interferometric frequency-resolved optical gating (FROG) with a radial shearing Michelson interferometer. Through scanning one arm of the interferometer, both the cross-correlated FROG trace at the central part of the laser beam and the delay-dependent interferograms of the entire laser profile are simultaneously obtained, allowing a fast three-dimensional reconstruction of few-cycle laser pulses.

[Clinical, myopathological and genetic features of two Chinese families with paramyotonia congenita].

Objective: To investigate the clinical, myopathological and genetic mutation characteristics in two Chinese families with paramyotonia congenita (PMC). Methods: Clinical manifestations, electrophysiology, muscle pathology and gene sequencing of two Chinese families with PMC were analyzed retrospectively. Results: Family 1 involved 12 patients in 4 consecutive generations and family 2 involved only 1 patient in 3 generations. The onset of symptoms in all patients started at early childhood. Both probands presented with myotonia triggered by cold and paroxysmal weakness. However, the other 11 patients in family 1 only manifested cold-induced myotonia. Serum creatine kinase (CK) was slightly elevated between attacks of weakness in the 2 probands, and was even greater than 10 000 U/L during the episodes of weakness in the second proband, whose lower limb MRI revealed edema in bilateral medial gastrocnemius. Electromyography showed diffuse myotonia discharge and myogenic impairment in both probands, and myotonia discharge in the first proband's mother. Muscle pathology of both probands showed mild myopathic changes, and tube aggregation was occasionally observed in the second one. Genetic testing revealed a maternally inherited heterozygous R1448H mutation of SCN4A gene in the first proband and part of his family. A novel heterozygous R1448G mutation of SCN4A gene was reported in the second proband. Conclusions: Cold-triggered myotonia with or without paroxysmal weakness are the common characteristics of PMC. Myotonic potential and myogenic impairment can be tested in electromyography. The p.R1448G mutation is a new missense mutation.

Neuropsychiatric Symptoms and Risk Factors in Mild Cognitive Impairment: A Cohort Investigation of Elderly Patients.

BACKGROUND: Neuropsychiatric symptoms (NPS) have been shown to affect the progression and development of Alzheimer's disease (AD) in the elderly. However, the published data are still controversial and limited in large cohort-based NPS study. AIM: To explore the potential relationship between NPS and mild cognitive impairment (MCI) among the elderly of Chinese community. METHODS: A total of 465 Chinese community-dwelling elderly (age ≥ 60 years) with mild cognitive impairment (MCI) were recruited into this investigation. At baseline, enrolled participants were assessed for Clinical Dementia Rating (CDR), mini-psychiatric examination. They were also subjected to categorical language fluency test, list learning and delayed recall. We assessed the NPS severity by Neuropsychological Inventory (NPI). The global cognitive status (GCS) of the participants at the end of the 3-year study period were measured with the CDR. RESULTS: Approximately 41.6% of subjects had 1 or more NPS (total NPI score ≥ 1) at baseline. The most common NPSs were nocturnal behavior (20.8%), depression (17.3%), apathy (12.7%) and anxiety (13.2%). At the end of 3-year follow-up, 26.9% of baseline depressed patients developed AD, while 15.2% of baseline non-depressed patients developed AD (χ2 = 4.86, P=0. 04). Abnormal motor behavior was significantly correlated with cognitive deterioration as well (χ2 = 5.75, P=0. 03). Logistic regression analysis revealed that depression was considered as a risk factor for AD progression at baseline (95% CI: 1.12-5.67, OR=2.37, P=0.03). CONCLUSIONS: Depression may be an independent factor representing early neurodegeneration in elder patients with MCI. Further studies are warranted to assess whether effective management of NPS promotes the cognitive functions.

The impact of stroke on bone properties and muscle-bone relationship: a systematic review and meta-analysis.

To systematically review available evidence related to the characteristics of bone changes post-stroke and the relationship between various aspects of muscle function (e.g., strength, spasticity) and bone properties after stroke onset. An extensive online database search was undertaken (last search in January 2019). Articles that examined the bone properties in stroke patients were included. The quality of the studies was evaluated with the National Institutes of Health (NIH) Study Quality Assessment Tools. Publication bias of meta-analyses was assessed using the Egger's regression asymmetry test. The selection and evaluation of the articles were conducted by two independent researchers. Fifty-nine studies were identified. In subacute and chronic stroke studies, the skeletal sites in the paretic limbs sustained a more pronounced decline in bone quality than did their counterparts in the non-paretic limbs. The rate of changes showed a decelerating trend as post-stroke duration increased, but the timing of achieving the steady rate differed across skeletal sites. The magnitude of bone changes in the paretic upper limb was more pronounced than the paretic lower limb. There was a strong relationship between muscle strength/mass and bone density/strength index. Muscle spasticity seemed to have a negative impact on bone integrity in the paretic upper limb, but its influence on bone properties in the paretic lower limb was uncertain. Substantial bone changes in the paretic limbs occurred particularly in the first few months after stroke onset. Early intervention, muscle strength training, and long-term management strategies may be important to enhance bone health post-stroke. This review has also revealed the knowledge gaps which should be addressed in future research.