Validation of Patient-Reported Outcomes in Patients With Nonmetastatic Breast Cancer Receiving Comprehensive Nodal Irradiation in the RadComp Trial.

PURPOSE: Our purpose was to evaluate the measurement properties of patient-reported outcome (PRO) measures used in the ongoing RadComp pragmatic randomized clinical trial (PRCT). METHODS AND MATERIALS: The deidentified and blinded data set included 774 English-speaking female participants who completed their 6-month posttreatment assessment. Eleven PRO measures were evaluated, including the Trial Outcome Index from the Functional Assessment of Cancer Therapy-Breast (FACT-B), Satisfaction with Breast Cosmetic Outcomes, the BREAST-Q, and selected Patient-Reported Outcomes Measurement Information System (PROMIS) measures. PROs were measured at 3 timepoints: baseline, completion of radiation therapy (RT), and 6 months post-RT. Ten variables were used as validity anchors. Pearson or Spearman correlations were calculated between PROs and convergent validity indicators. Mean PRO differences between clinically distinct categories were compared with analysis of variance methods (known-groups validity). PRO change scores were mapped to change in other variables (sensitivity to change). RESULTS: Most correlations between PROs and validity indicators were large (≥0.5). Mean score for Satisfaction with Breast Cosmetic Outcomes was higher (better) for those with a lumpectomy compared with those with a mastectomy (P < .001). Mean scores for the FACT-B Trial Outcome Index and for PROMIS Fatigue and Ability to Participate in Social Roles and Activities were better for those with good baseline performance status compared with those with poorer baseline performance status (P < .05). At completion of RT and post-RT, mean scores for Satisfaction with Breast Cosmetic Outcomes and BREAST-Q Radiation were significantly different (P < .001) across categories for all Functional Assessment of Chronic Illness Therapy -Treatment Satisfaction - General items. There were medium-sized correlations between change scores for FACT-B Trial Outcome Index, Fatigue, Anxiety, and Ability to Participate in Social Roles and change scores in the Visual Analog Scale. CONCLUSIONS: For patients with nonmetastatic breast cancer receiving radiation in the RadComp PRCT, our findings demonstrate high reliability and validity for important PRO measures, supporting their psychometric strength and usefulness to reflect the effect of RT on health-related quality of life.

Real-World Effectiveness of the Gla-300 + Cap + App Program in Adult Users Living with Type 2 Diabetes in Taiwan.

INTRODUCTION: Health2Sync (H2S) is a digital health technology platform that provides coaching and titration support to patients with diabetes. The Mallya cap converts a conventional insulin pen into a smart connected device that can automatically synchronize dose values and associated timestamps (upon injection) to the H2S platform. This single-arm real-world study evaluated the effectiveness of insulin glargine 300 U/mL (Gla-300) combined with H2S and Mallya cap (Gla-300 + Cap + App program) on clinical outcomes among users with type 2 diabetes (T2D) in Taiwan. METHODS: Adults (aged ≥ 20 years) with T2D who were registered H2S users and initiated Mallya cap for a new/existing Gla-300 regimen (identification period May 1, 2021-May 31, 2022) were included in this retrospective cohort study. Follow-up data from H2S were collected for 90 days. Glycated hemoglobin (HbA1c) change (baseline to follow-up) and HbA1c goal attainment were primary outcomes. Hypoglycemia incidence and usage metrics of Mallya cap were secondary outcomes. RESULTS: Of 83 participants, 38.6% were new Gla-300 users. HbA1c was reduced in both new (- 2.4 [2.7] %, - 26.2 [29.5] mmol/mol) and previous Gla-300 users (- 0.5 [1.6] %, - 5.5 [17.5] mmol/mol). Reduction in HbA1c was significant (p < 0.05) in both groups. At follow-up, 43.4% of users had a reduction of > 0.5%. Mean HbA1c reductions increased numerically with higher baseline HbA1c and with longer duration of Mallya cap usage. CONCLUSIONS: Use of digital technology within a connected ecosystem such as Gla-300 + Cap + App program could help people with type 2 diabetes to improve their glycemic condition.

[Determination of triclocarban and triclosan in urine by QuEChERS extraction and ultra-performance liquid chromatography-tandem mass spectrometry].

Objective: To establish a method for the determination of triclocarban (TCC) and triclosan (TCS) in urine by ultra-performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS) after purification by QuEChERS. Methods: In May 2022, urine samples were extracted by acetonitrile, purified by QuEChERS, separated by Waters Acquity UPLC BEH C18 column (100 mm×2.1 mm, 1.7 µm), and eluated with water-acetonitrile as mobile phase gradient at a flow rate of 0.3 ml/min. The detection was conducted in negative ion mode (ESI(-)) and multiple reaction monitoring (MRM) scanning, it was quantified with a internal standard method, and the methodology was verified. Results: The linear ranges of TCC and TCS were 0.5-100.0 µg/L and 1.0-100.0 µg/L, and the correlation coefficients were 0.9997 and 0.9991, respectively. The limits of detection and quantitation of TCC and TCS were 0.17 and 0.33 µg/L, and 0.5 and 1.0 µg/L, respectively. The recoveries of TCC and TCS were 100.1%-102.8% and 96.7%-108.6%, and the relative standard deviations were 4.9%-6.7% and 4.1%-8.3%, respectively, at 2.0, 10.0 and 80.0 µg/L. Conclusion: QuEChERS-UPLC-MS/MS method is simple, rapid, sensitive and reproducible, and can be used for rapid and accurate simultaneous detection of TCC and TCS exposure levels in occupational population.

[Analysis on occupational dust or harmful gas exposure and protection in people aged 40 and above in China, 2019-2020].

Objective: To understand the current status of occupational exposure to dust or harmful gases and occupational protection in people aged ≥40 years in China, and provide data support for the prevention and control of occupational dust or harmful gas exposure. Methods: The data were obtained from the surveillance for chronic obstructive pulmonary disease (COPD) in adults aged ≥40 years selected by multi-stage stratified cluster sampling from 125 surveillance points in 31 provinces (autonomous regions and municipalities) during 2014-2015 and 2019-2020, and relevant information about occupational dust or harmful gas exposure and protection measures were collected through face-to-face interviews. Occupational dust or harmful gas exposure rate and occupational protection rate were estimated by using weighting complex sampling methods, and then the results were compared. Results: From 2014 to 2015 and from 2019 to 2020, a total of 71 061 and 71 023 individuals aged ≥40 years were surveyed, respectively. The rate of occupational exposure to dust or hazardous gas was 33.8% (95%CI: 29.9%-37.7%) during 2019-2020. The occupational exposure rate was higher in men than in women and in rural residents than in urban residents. With the increase of education level, the rate of occupational exposure to dust or harmful gas showed a downward trend. The protection rate against occupational dust or hazardous gas exposure was 47.9% (95%CI: 43.2%-52.6%) during 2019-2020. Compared with 2014-2015, the rate of occupational exposure to dust or hazardous gas decreased by 10.7 percentage points in different gender, area and occupational groups and the occupational protection rate increased by 21.9 percentage points during 2019-2020. The decrease in occupational exposure rate was higher in western China than in eastern and central China, and the increase in occupational protection rate was higher in western China than in eastern and central China. Conclusions: The rate of occupational exposure to dust or harmful gas decreased and the rate of occupational protection against dust or harmful gas exposure increased in China during 2019-2020. However, about one-third of the population still suffer from the occupational exposure, and less than half of them take protection measures. It is necessary to pay more attention to the key populations, such as workers with lower cultural level and rural migrant workers, in occupational health practice.

[Analysis on passive smoking exposure in adults aged 40 years and above in China, 2019-2020].

Objective: To understand the passive smoking exposure status in adults aged ≥40 years in China. Methods: Local residents aged ≥40 years were enrolled as study subjects from 125 areas of chronic obstructive pulmonary disease (COPD) surveillance during 2014-2015 and 2019-2020 in 31 provinces of China. A total of 74 559 adults aged ≥40 years were selected through multi-stage stratified cluster sampling for a face to face questionnaire survey and the data from 64 142 study subjects were used for the analysis. The passive smoking exposure rate, the proportions of the adults reporting passive smoking exposure at four types of places and the proportion of the adults living with daily smokers were described by using complicated sampling weighting method, the related factors were analyzed and the results were compared with the data of COPD surveillance during 2014-2015. Results: The passive smoking exposure rate in the adults aged ≥40 years was 46.4% (95%CI: 44.1%-48.8%) in China during 2019-2020, and the rate was higher in women (47.2%, 95%CI:44.8%-49.7%) than in men (44.8%, 95%CI:42.0%-47.6%) and lower in the older people. The office workers had the highest passive smoking exposure rate. The proportions of those reporting passive smoking exposure at homes, workplaces, restaurants, and public transports were 24.3% (95%CI:22.2%-26.4%)、23.3% (95%CI:21.1%-25.5%)、6.6% (95%CI:5.3%-7.9%) and 2.2% (95%CI:1.6%-2.7%). The higher education level the adults had, the less passive smoking exposure at home they reported. The proportions of those living with daily smokers before 14 years old and since 14 years old were 56.4% and 59.2%. Compared with the data during 2014-2015, the overall passive smoking exposure rate in the adults aged ≥40 years during 2019-2020 showed an increase, and the difference was not significant (P=0.356); The passive smoking exposure rate at homes declined, but the exposure rate at workplaces increased, with the biggest increase found in those being engaged in farming, forestry, husbandry, fishery and water conservancy. Multivariate analysis indicated that the factors influencing the passive smoking exposure and the exposure proportions at different places included gender, age, occupation, and education level. Conclusions: The passive smoking exposure rate in China is still high, especially in those being engaged in farming, forestry, husbandry, fishery and water conservancy. It is necessary to strengthen supervision of the enforcement of current smoking bans in public places and promote the legislation of ban smoking in public places. More attention should be paid to smoking ban and protection against passive smoking exposure in women, people with lower education level and people being engaged in in farming, forestry, husbandry, fishery and water conservancy.

[Prevalence of exposure to household cooking oil fumes in women aged 40 years and older in China, 2019].

Objective: To understand the prevalence of exposure to household cooking oil fumes in women ≥40 years old. Methods: The data were from Chronic Obstructive Pulmonary Disease (COPD) Surveillance in China during 2019-2020, which selected permanent residents ≥40 years old from 125 counties (districts) in 31 provinces (autonomous regions and municipalities) across the country by multi-stage stratified cluster random sampling method. The relevant demographic information and cooking oil fumes were collected by face-to-face interview. Our study served 37 164 women with complete cooking practice information as the subject. After complex sample weighting, we analyzed the prevalence of cooking oil fumes exposure in women from cooking time, kitchen characteristics, and Self-reported cooking oil fumes exposure. Results: In 2019, 83.9% (95%CI: 82.1%-85.7%) and 4.5% (95%CI: 3.8%-5.2%) of Chinese women ≥40 years old cooked daily and often, respectively. The average daily cooking duration is 1.8 hours/day, 31.1% of women who cooked daily more than 2.0 hours, and the average cumulative cooking years of cooking women were 32.8 years. 79.3% of cooking women used ventilation devices, and 3.2% cooked in the living room. 8.9% and 7.2% of cooking women in south China and northwest China cooked in the living room, significantly higher than in other regions (P=0.036). The self-reported exposure rate to cooking oil fumes was 81.0% (95%CI: 79.3%-82.7%). Rural, older, lower education level and women engaged in agriculture had a higher proportion of cooking daily, average daily cooking duration, cumulative cooking years, the proportion of cooking in the living room, and rate of self-reported cooking oil fumes exposure, but a lower proportion of using ventilation devices during cooking (P<0.001). Conclusions: The exposure to household cooking oil fumes was serious in Chinese women, and some women still did not take any ventilation measures when cooking. More attention should be paid to the exposure to home cooking oil fumes and its health hazards in women, especially those with lower socioeconomic status.

[Spatial autocorrelation and related factors of stroke mortality in Zhejiang Province based on spatial panel model in 2015-2020].

Objective: To explore the spatial autocorrelation and macro influencing factors of stroke mortality in Zhejiang Province in 2015-2020 and provide a scientific basis for stroke prevention and control strategy. Methods: The data on stroke death were obtained from Zhejiang Chronic Disease Surveillance System. The spatial distribution of stroke mortality was explored by mapping and spatial autocorrelation analysis. The spatial panel model analyzed the correlation between stroke mortality and socioeconomic and healthcare factors. Results: From 2015 to 2020, the average stroke mortality was 68.38/100 thousand. The standard mortality of stroke was high in the areas of east and low in the west, high in the south and low in the north. Moreover, positive spatial autocorrelation was observed (Moran's I=0.274-0.390, P<0.001). Standard mortality of stroke was negatively associated with per capita gross domestic product (GDP) (ß=-0.370, P<0.001), per capita health expenditure (ß=-0.116, P=0.021), number of beds per thousand population (ß=-0.161, P=0.030). Standard mortality of ischemic stroke was negatively associated with per capita GDP (ß=-0.310, P=0.002) and standard management rate of hypertension (ß=-0.462, P=0.011). Standard mortality of hemorrhagic stroke was negatively associated with per capita GDP (ß=-0.481, P<0.001), per capita health expenditure (ß=-0.184, P=0.001), number of beds per thousand population (ß=-0.288, P=0.001) and standard management rate of hypertension (ß=-0.336, P=0.029). Conclusions: A positive spatial correlation existed between stroke mortality in Zhejiang Province in 2015-2020. We must focus more on preventing and controlling strokes in relatively backward economic areas. Moreover, to reduce the mortality of stroke, increasing the investment of government medical and health funds, optimizing the allocation of medical resources, and improving the standard management rate of hypertension are important measures.

[Analysis of disease composition and primary surgical procedures in pediatric secondary glaucoma inpatients: a single-center study].

Objective: To analyze the disease composition and primary surgical procedures in pediatric inpatients with secondary glaucoma. Methods: A retrospective case series study was conducted. Clinical data of children aged≤16 years with secondary glaucoma who were admitted to the Zhongshan Ophthalmic Center, Sun Yat-sen University, between January 1, 2017, and December 31, 2021, were included. The patients were classified according to the Childhood Glaucoma Research Network (CGRN) classification system, and their diagnoses, underlying factors, gender, age of onset, affected eye(s), age and type of initial surgery, and ophthalmic examination data were analyzed. Statistical analysis was performed using Kruskal-Wallis rank sum test and χ2 test. Results: A total of 540 patients (744 eyes) were included in this study, comprising 319 males (59.1%) and 221 females (40.9%). Unilateral disease was observed in 336 cases (62.2%), while bilateral involvement was present in 204 cases (37.8%). The age of onset was 4.0 (0.0, 9.0) years, and the median age of the first anti-glaucoma surgery was 5.0 (0.7, 10.0) years. Among them, there were 195 cases (36.1%) of secondary glaucoma associated with non-acquired ocular anomalies (SCG-O), with a median age of onset of 0.0 (0.0, 4.0) years, and 97 of these cases (49.7%) were male. secondary glaucoma associated with non-acquired systemic disease or syndrome (SCG-S) were observed in 68 cases (12.6%), with a median age of glaucoma onset of 0.1 (0.0, 4.0) years, and 47 of these cases (69.1%) were male. Secondary glaucoma associated with acquired conditions (SCG-A) accounted for 192 cases (35.6%), with a median age of onset of 9.0 (5.0, 13.0) years, and 125 of these cases (65.1%) were male. There were 85 cases (15.7%) of secondary glaucoma following cataract surgery (SCG-C), with a median age of onset of 3.0 (0.8, 7.0) years, and 50 of these cases (58.8%) were male. Male patients were predominant in SCG-S and SCG-A, with 47 cases (69.1%) and 125 cases (65.1%), respectively (χ2=9.94, 17.52; P=0.002,<0.001). Except for SCG-O, all other types of pediatric secondary glaucoma predominantly affected only one eye: SCG-S in 52 cases (76.5%), SCG-A in 128 cases (66.7%), and SCG-C in 54 cases (63.5%) (χ2=19.06, 21.33, 6.22; all P<0.05). The highest proportion of SCG-O was attributed to congenital ectropion uveae (46 cases, 23.6%). Sturge-Weber syndrome was the most common SCG-S (45 cases, 66.3%), while SCG-A mostly resulted from trauma (59 cases, 30.8%) and corticosteroid use (56 cases, 29.2%). Trabeculectomy (211 eyes, 30.8%) and glaucoma drainage device implantation (197 eyes, 28.7%) were the most frequently performed primary surgical procedures. Conclusions: SCG-O and SCG-A were found to be common types of pediatric secondary glaucoma. The age of onset and the choice of primary anti-glaucoma surgical procedures varied among different types of pediatric secondary glaucoma. However, overall, trabeculectomy and glaucoma drainage device implantation were the primary surgical procedures predominantly employed.

[Comparison of the predictive value of Padua and the IMPEDE assessment scores for venous thromboembolism in patients with newly diagnosed multiple myeloma: A single institution experience].

Objective: To compare the predictive efficacy of the two thrombosis risk assessment scores (Padua and IMPEDE scores) in venous thromboembolism (VTE) within 6 months in patients with newly diagnosed multiple myeloma (NDMM) in China. Methods: This study reviewed the clinical data of 421 patients with NDMM hospitalized in Beijing Jishuitan Hospital from April 2014 to February 2022. The sensitivity, specificity, accuracy, and Youden index of the two scores were calculated to quantify the thrombus risk assessment of VTE by the Padua and IMPEDE scores. The receiver operating characteristics curves of the two evaluation scores were drawn. Results: The incidence of VTE was 14.73%. The sensitivity, specificity, accuracy, and Youden index of the Padua score were 100%, 0%, 14.7%, and 0% and that of the IMPEDE score was 79%, 44%, 49.2%, and 23%, respectively. The areas under the curve of Padua and IMPEDE risk assessment scores were 0.591 and 0.722, respectively. Conclusion: IMPEDE score is suitable for predicting VTE within 6 months in patients with NDMM.

Nanoplasma resonance condition in the middle-infrared spectral range.

The resonance-absorption condition in the laser-nanoplasma interactions has been considered to follow the wavelength dependence of the critical plasma density. We experimentally demonstrate that this assumption fails in the middle-infrared spectral range, while it is valid for visible and near-infrared wavelengths. A thorough analysis supported by molecular dynamic (MD) simulations indicates that the observed transition in the resonance condition is caused by the reduction of the electron scattering rate and the associated increase of the cluster outer-ionization contribution. An expression for the nanoplasma resonance density is derived based on experimental results and MD simulations. The findings are important for a broad range of plasma experiments and applications, since the extension of the laser-plasma interaction studies to longer wavelengths has become increasingly topical.

The tumor suppressor role and ceRNA network of miR-1294 in cancer.

miRNAs are endogenous small RNAs that are important regulators of gene expression. miR-1294 was found to be significantly down-regulated in 15 cancers and regulated by 21 upstream regulators. miR-1294 affects the proliferation, migration, invasion, and apoptosis of cancer cells. The target genes of miR-1294 are involved in the PI3K/AKT/mTOR, RAS, and JAK/STAT signaling pathways. Six target genes of miR-1294 are the targets of a variety of drugs. Low expression of miR-1294 is associated with resistance to cisplatin and TMZ and a poorer prognosis in patients with ESCC, GC, EOC, PDAC, or NSCLC. Therefore, this work outlines the molecular mechanisms and provides a basis for the clinical significance of the tumor suppressor miR-1294 in cancer.

Pseudoangiomatous stromal hyperplasia of the breast, imaging and clinical perspective: A review.

Pseudoangiomatous stromal hyperplasia (PASH) is a benign breast pathology, which most commonly presents incidentally along with other breast pathologies. The etiology and pathogenesis of PASH are still unknown; however, there is some evidence suggesting PASH is hormone dependent. The clinical history, presentation, and imaging appearance of PASH are variable. Clinically, PASH has a wide spectrum of presentations, from being silent to gigantomastia. On imaging, PASH demonstrates various benign to suspicious features. Here we summarize PASH's clinical presentation, histopathology, imaging features, and management.

[Performance of pulmonary function test in people aged 40 years and above in China, 2019-2020].

Objective: To understand the performance of pulmonary function tests in people aged ≥40 years and its changes in China, and provide evidence for the evaluation of the effect of chronic obstructive pulmonary disease (COPD) prevention and control in China. Methods: The subjects of the survey were from COPD surveillance during 2014-2015 and during 2019-2020, which covered 31 provinces (autonomous regions and municipalities) in China. The survey used multi-stage stratified cluster random sampling method, the trained investigators conducted face-to-face interview to know whether subjects had previous pulmonary function testing or not. Complex sampling weighting was used to estimate the rate of pulmonary function testing in people aged ≥40 years, and the pulmonary function testing rates of the two COPD surveillance periods were compared. Results: A total of 148 427 persons were included in the analysis, including 74 591 persons during 2014-2015 and 73 836 persons during 2019-2020. In 2019-2020, the pulmonary function testing rate in Chinese residents aged ≥40 years was 6.7% (95%CI: 5.2%-8.2%), the rate in men (8.1%, 95%CI: 6.7%-9.6%) was higher than that in women (5.4%, 95%CI: 3.7%- 7.0%), and the rate in urban residents (8.3%, 95%CI: 6.1%-10.5%) was higher than that in rural residents (4.4%, 95%CI: 3.8%-5.1%). The rate of pulmonary function testing increased with the increase of education level. During 2019-2020, the residents with history of chronic respiratory diseases had the highest rate of pulmonary function testing (21.2%, 95%CI: 16.8%-25.7%), followed by the residents with respiratory symptoms (15.1%, 95%CI: 11.8%-18.4%) , the pulmonary function testing rate in those who knew the name of chronic respiratory disease was higher than that in those who did not knew the name of respiratory disease, and the pulmonary function testing rate in former smokers was higher than that in current smokers and non-smokers. Those exposed to occupational dust and/or harmful gases had a higher rate of pulmonary function testing compared with those who were not exposed, and those who used polluted fuels indoors had a lower rate of pulmonary function testing than those who did not use polluted fuels indoors (all P<0.05). Compared with 2014-2015, the pulmonary function testing rate in residents aged ≥40 years in China increased by 1.9 percentage points during 2019-2020, and the rate of pulmonary function testing in groups with different characteristics all increased, and the rates of pulmonary function testing increased by 7.4 percentage points and 7.1 percentage points in residents with respiratory symptoms and in those with history of chronic respiratory diseases (all P<0.05). Conclusions: Compared with 2014-2015, the rate of pulmonary function testing increased in China during 2019-2020 and the increase in residents with history of chronic respiratory diseases and respiratory symptoms was relatively obvious, but the overall pulmonary function testing rate was still at a low level. Effective measures should be taken to further increase the rate of pulmonary function testing.

[Prevalence of smoking in adults aged 40 years and above in China, 2019-2020].

Objective: To understand the prevalence of smoking and its change in adults aged ≥40 years in China and provide evidence for the development of chronic obstructive pulmonary disease (COPD) prevention and control strategies. Methods: The data of this study were obtained from COPD surveillance in China during 2014-2015 and during 2019-2020. The surveillance covered 31 provinces (autonomous regions and municipalities). A multi-stage stratified cluster random sampling were used to select residents aged ≥40 years, and face-to-face interviews were conducted to collect the information about their tobacco use. After complex sampling weighting of the samples, the current smoking rate, average age to start smoking and average daily cigarette consumption of people with different characteristics during 2019-2020 were estimated, and the changes in the current smoking rate and average daily cigarette consumption were analyzed from 2014-2015 to 2019-2020. Results: During 2019-2020, the current smoking rate in adults aged ≥40 years was 27.2%, and the rate was much higher in men (52.1%) than in women (2.5%).The average age of the smokers to start smoking was 20.0 years old, and men usually started smoking at younger age (19.6 years) compared with women (27.9 years). The average daily cigarette consumption of daily smokers was 18.0 sticks, and the consumption of men (18.3 cigarettes) was higher than that of women (11.1 cigarettes). Compared with the surveillance results during 2014-2015, the current smoking rate had decreased by 2.8 percentage points in the general population, 4.1 percentage points in males, 1.6 percentage points in females, and the urban and rural areas fell by 3.1 percentage points and 2.5 percentage points, respectively. The average daily cigarette consumption decreased by 0.6 sticks. Conclusions: In recent years, the current smoking rate and average daily cigarette consumption in adults aged ≥40 years decreased in China, but smoking is still common in more than quarter of this population and more than half of men aged ≥40 years. It is necessary to take targeted tobacco control measures based on population and regional characteristics to further reduce the smoking level of the population.

[Clinical characteristics of Danon disease].

Objective: To review the clinical data of 7 patients with Danon disease and analyze their clinical characteristics. Methods: The medical records of 7 patients with Danon disease, who were hospitalized in Peking Union Medical College Hospital of Chinese Academy of Medical Sciences from April 2008 to July 2021, were reviewed and summarized, of which 6 cases were diagnosed as Danon disease by lysosomal-associated membrane protein-2 (LAMP-2) gene mutation detection and 1 case was diagnosed by clinicopathological features. Clinical manifestations, biochemical indexes, electrocardiogram, echocardiography, skeletal muscle and myocardial biopsy and gene detection results were analyzed, and patients received clinical follow-up after discharge. Results: Six patients were male and average age was (15.4±3.5) years and the average follow-up time was (27.7±17.0) months. The main clinical manifestations were myocardial hypertrophy (6/7), decreased myodynamia (2/7) and poor academic performance (3/7). Electrocardiogram features included pre-excitation syndrome (6/7) and left ventricular hypertrophy (7/7). Echocardiography examination evidenced myocardial hypertrophy (6/7), and left ventricular dilatation and systolic dysfunction during the disease course (1/7). The results of skeletal muscle biopsy in 6 patients were consistent with autophagy vacuolar myopathy. Subendocardial myocardial biopsy was performed in 3 patients, and a large amount of glycogen deposition with autophagosome formation was found in cardiomyocytes. LAMP-2 gene was detected in 6 patients, and missense mutations were found in all these patients. During the follow-up period, implantable cardioverter defibrillator implantation was performed in 1 patient because of high atrioventricular block 4 years after diagnosis, and there was no death or hospitalization for cardiovascular events in the other patients. Conclusion: The main clinical manifestations of Danon disease are cardiomyopathy, myopathy and mental retardation. Pre-excitation syndrome is a common electrocardiographic manifestation. Autophagy vacuoles can be seen in skeletal muscle and myocardial pathological biopsies. LAMP-2 gene mutation analysis is helpful in the diagnose of this disease.

Comparative transcriptomic analysis reveals candidate genes for seasonal breeding in the male Lion-Head goose.

1. Due to seasonal breeding, geese breeds from Southern China have low egg yield. The genetic makeup underlying performance of local breeds is largely unknown, and few studies have investigated this problem. This study integrated 21 newly generated and 50 publicly existing RNA-seq libraries, representing the hypothalamus, pituitary and testis, to identify candidate genes and importantly related pathways associated with seasonal breeding in male Lion-Head geese.2. In total, 19, 119 and 302 differentially expressed genes (DEGs) were detected in the hypothalamus, pituitary and testis, respectively, of male Lion-Head geese between non-breeding and breeding periods. These genes were significantly involved in the neuropeptide signalling pathway, gland development, neuroactive ligand-receptor interaction, JAK-STAT signalling pathway, cAMP signalling pathway, PI3K-Akt signalling pathway and Foxo signalling pathway.3. By integrating another 50 RNA-seq samples 4, 18 and 40 promising DEGs were confirmed in hypothalamus, pituitary and testis, respectively.4. HOX genes were identified as having important roles in the development of testis between non-breeding and breeding periods of male Lion-Head geese.

[Evaluation of the clinical manifestations of COVID-19 in patients with aplastic anemia undergoing immunosuppressive therapy: a prospective cohort study (NICHE)].

Objective: To investigate the clinical features of coronavirus disease 2019 (COVID-19) in patients with aplastic anemia (AA) undergoing immunosuppressive therapy (IST) . Methods: In this prospective cohort study, we collected the demographic and clinical data of patients with AA and COVID-19 from December 1, 2022, to January 31, 2023. We described the clinical features of COVID-19 among patients with AA and evaluated the effects of IST on the signs and severity of COVID-19. Results: A total of 170 patients with AA and COVID-19 were included. The common early symptoms, including fever, dizziness or headache, muscle or body aches, and sore throat, disappeared within 1-2 weeks. Approximately 25% of the patients had persistent fatigue within 2 weeks. Many patients experienced cough after an initial 1-3 days of infection, which lasted for more than 2 weeks. There were no differences in the duration of total fever episodes and maximum body temperature when patients were stratified according to whether or not they underwent IST, by IST duration, or by use of anti-lymphocyte globulin (ALG) (P>0.05). No differences were observed in the occurrence of symptoms in either the early or recovery stages when patients with AA were stratified according to whether or not they underwent IST, or by IST duration (P>0.05). However, patients who received ALG had fewer fever episodes within 1 week after infection (P=0.035) and more sore throat episodes within 2 weeks after infection (P=0.015). There were no other significant differences in clinical symptoms between patients who did and patients who did not receive ALG (P>0.05) . Conclusion: The majority of patients with AA and COVID-19 recovered within 2 weeks of noticing symptoms when treated with IST.