Upregulation of CALD1 predicted a poor prognosis for platinum-treated ovarian cancer and revealed it as a potential therapeutic resistance target.

BACKGROUND: Ovarian cancer (OC) has the worst prognosis among gynecological malignancies, most of which are found to be in advanced stage. Cell reduction surgery based on platinum-based chemotherapy is the current standard of treatment for OC, but patients are prone to relapse and develop drug resistance. The objective of this study was to identify a specific molecular target responsible for platinum chemotherapy resistance in OC. RESULTS: We screened the protein-coding gene Caldesmon (CALD1), expressed in cisplatin-resistant OC cells in vitro. The prognostic value of CALD1 was evaluated using survival curve analysis in OC patients treated with platinum therapy. The diagnostic value of CALD1 was verified by drawing a Receiver Operating Characteristic (ROC) curve using clinical samples from OC patients. This study analyzed data from various databases including Gene Expression Omnibus (GEO), Human Protein Atlas (HPA), The Cancer Cell Line Encyclopedia (CCLE), The Cancer Genome Atlas (TCGA), GEPIA 2, UALCAN, Kaplan-Meier (KM) plotter, LinkedOmics database, and String. Different expression genes (DEGs) between cisplatin-sensitive and cisplatin-resistant cells were acquired respectively from 5 different datasets of GEO. CALD1 was selected as a common gene from 5 groups DEGs. Online data analysis of HPA and CCLE showed that CALD1 was highly expressed in both normal ovarian tissue and OC. In TCGA database, high expression of CALD1 was associated with disease stage and venous invasion in OC. Patients with high CALD1 expression levels had a worse prognosis under platinum drug intervention, according to Kaplan-Meier (KM) plotter analysis. Analysis of clinical sample data from GEO showed that CALD1 had superior diagnostic value in distinguishing patients with platinum "resistant" and platinum "sensitive" (AUC = 0.816), as well as patients with worse progression-free survival (AUC = 0.741), and those with primary and omental metastases (AUC = 0.811) in ovarian tumor. At last, CYR61 was identified as a potential predictive molecule that may play an important role alongside CALD1 in the development of platinum resistance in OC. CONCLUSIONS: CALD1, as a member of cytoskeletal protein, was associated with poor prognosis of platinum resistance in OC, and could be used as a target protein for mechanism study of platinum resistance in OC.

Passivation of Organic-Inorganic Hybrid Perovskite with Poly(lactic Acid) to Achieve Stable Red-Light Flexible Films.

Low-dimensional organic-inorganic hybrid perovskites (OIHPs) have shown significant potential in the optoelectronic field due to their adjustable structure and properties. However, the poor air stability and flexibility of the OIHP crystals limit their further development. Herein, three OIHP crystals have been synthesized using cadmium chloride and the isomer of phenylenediamine as raw materials. Mn2+ doping turns on the red-light emission of Cd-based OIHPs at around 625 nm. Interestingly, the organic ligands with different steric hindrance can induce a transition of the OIHP structure from two dimensions (2D) to one dimension (1D), thereby regulating the quantum yield of red luminescence in the range of 38.4% to nearly 100%. It is found that the surface-exposed amino groups are easy to oxidize, resulting in the instability of these OIHP crystals. Therefore, poly(lactic acid) (PLA) is selected to passivate OIHPs through hydrogen bonding between C═O of PLA and -NH2 on the surface of OIHPs. As a result, the production of OIHP-based flexible films with highly efficient and stable red emission can be obtained after being encapsulated by PLA. They demonstrate enormous application potential in flexible X-ray imaging. This study not only realizes stable perovskite films but also provides an effective design idea for red flexible scintillators.

The mediating effect of perceived social support between family resilience and meaning in life in breast cancer patients.

PURPOSE: The beneficial effects of family resilience and meaning in life on patients are established, but limited is known for the effect of perceived social support. We aim to investigate the impact of family resilience on the meaning of life among Chinese patients with breast cancer (BC) and to further detect whether perceived social support mediated this association. METHODS: From February to June 2022, we conducted this cross-sectional study with 276 women who were diagnosed with BC in a tertial hospital in Guangdong province, China. The Chinese version of Meaning in Life Scale (C-MiLS) was used to measure the meaning in life. The Chinese version of the family resilience assessment scale (C-FRAS) and the perceived social support scale (PSSS) were adopted to obtain the family resilience and perceived social support, respectively. The mediating effect of perceived spousal support was estimated using the bootstrapped confidence interval (CI) via IBM SPSS AMOS 22.0. RESULTS: The mean scores were 60.79 ± 11.63 for meaning in life, 82.08 ± 11.48 for family resilience, and 62.72 ± 12.19 for perceived social support, respectively. Our results indicated the positive correlations of meaning in life with family resilience (ß = 0.822, P < 0.05) and perceived social support (ß = 0.886, P < 0.05). The perceived social support exerted the mediating effect in the relationship between family resilience and meaning in life (ß = 0.368 [95%CI, 0.274, 0.450], P < 0.001), accounting for 54.6% of the variance in meaning in life. CONCLUSIONS: Our findings highlight that family resilience and perceived social support should be enhanced for BC patients to improve their meaning in life. In particular, the association between family resilience and meaning in life was positively mediated by perceived social support. Thus, interventions for improving family resilience and perceived social support might be useful in easing psychological distress and improving meaning in life in individuals with BC.

Integrated ultra-high-performance liquid chromatography coupled with quadrupole-orbitrap mass spectrometry-based components analysis and network pharmacology strategy of Gancao Xiexin Decoction in treating gastric ulcer.

Gancao Xiexin Decoction (GCXXD) is a traditional Chinese decoction that is often used in treating gastric ulcers. However, the substance basis and mechanism of action remain unclear. In this study, in vivo and in vitro components of GCXXD were analyzed by ultra-high-performance liquid chromatography coupled with quadrupole-orbitrap mass spectrometry. The compound Discover platform was used to ultimately enable rapid identification of compounds. Acquire X intelligent data acquisition technology software was innovatively adopted. In the process of collecting drug-containing plasma, all components detected in blank plasma samples were excluded to eliminate the interference and influence of endogenous components in plasma, making the analysis results more accurate and reliable. At the same time, the possibility of selecting precursor parent ions with low concentration levels within the chromatographic peak can be increased, improving the coverage and integrality of the detection of components in vivo. Also, the targeted network pharmacology strategy combined with molecular docking was established to explore the mechanism of GCXXD in treating gastric ulcers. As a result, 113 components were identified, 41 of which could enter the bloodstream and exert therapeutic effects in vivo. The main effective components are glycyrrhizic acid, 6-gingerol, jatrorrhizine, wogonin, palmatine, and liquiritigenin, main targets in vivo were related to ALB, IL6, and VEGF, which play an important role in anti-inflammatory and promoting angiogenesis. In summary, this study adopted a comprehensive analysis strategy to reveal the pharmacodynamic material basis and mechanism of GCXXD against gastric ulcers, providing a scientific basis for its clinical application.

Sex steroid and cognitive function among community-dwelling older men with or without vascular risk factors: a cross-sectional study.

BACKGROUND: The relationship of testosterone and estradiol concentrations with cognitive function among community-dwelling older men was inconclusive. To examine the association of serum testosterone and estradiol concentrations with cognitive function in older men with or without vascular risk factors (VRFs). METHODS: This cross-sectional study consisted of 224 community-dwelling men aged 65-90 years in the Songjiang District of Shanghai, China. Serum testosterone and estradiol were measured by electrochemiluminescence immunoassay. The following five factors were defined as VRFs in this study: obesity, history of hypertension, diabetes, stroke, and coronary heart disease. Multivariable linear regression was used to examine the association of testosterone and estradiol with the Mini-Mental State Examination (MMSE) in participants with or without VRF. Restricted cubic spline (RCS) regression was performed to account for the nonlinearity of these associations. RESULTS: An inverted "U" shaped non-linear relationship was found between testosterone concentration and MMSE score in men with one VRF (P overall =.003, non-linear P =.002). Estradiol showed an inverted "U" shaped non-linear relationship with MMSE score independent of VRFs (men without VRF, P overall =.049, non-linear P =.015; men with one VRF, overall P =.007, non-linear P =.003; men with two or more VRFs, overall P =.009, non-linear P =.005). CONCLUSION: In older men, an optimal level of sex steroid concentration may be beneficial to cognitive function and the VRFs should be considered when interpreting the relationship between sex steroid and cognitive function.

Effect of social participation on the trajectories of activities of daily living disability among community-dwelling older adults: a 7-year community-based cohort.

INTRODUCTION: Studies examining the effects of social participation on activities of daily living (ADL) disability are still scarce. AIM: To assess the reciprocal relationship between ADL disability trajectories and social participation among older Chinese people aged ≥ 60 years. METHODS: This study included 2976 participants aged ≥ 60 years in six waves of a community-based survey from 2015 to 2022. Basic activities of daily living (BADL) and instrumental activities of daily living (IADL) were used to assess the ADL disability in each survey. Social participation was assessed by involvement in four social activities and an extensive social participation score. Group-based trajectory modeling was used to identify potential heterogeneity in longitudinal changes over 7 years and explore associations between baseline predictors of group membership and these trajectories. RESULTS: Two BADL disability trajectories were identified: stable (94.8%) and increase (5.2%). Additionally, three IADL disability trajectories were distinguished: stable (73.2%), moderate (20.2%), and increase (6.6%). After controlling for the potential covariates, each point increase in the extensive social participation score correlated with a 17% decrease in the odds of older individuals belonging to the increase BADL trajectory group (OR = 0.83, 95% CI = 0.68-1.00). For IADL, it decreased the odds of being assigned to the moderate trajectory group by 16% (OR = 0.84, 95% CI = 0.75-0.95) and to the increase trajectory group by 23% (OR = 0.77, 95% CI = 0.64-0.93). CONCLUSIONS: Higher levels of social participation among older individuals were more likely to be classified as stable trajectories in both BADL and IADL. Increased participation in social activities by community-dwelling elderly adults may promote healthy aging.

Widely targeted metabolomics analysis of different parts of kudzu.

Pueraria lobata is a traditional medicinal and edible plant. Its root is often used as a nutritional supplement, but its stems and leaves are often discarded. In this study, the types and contents of compounds in roots, stems and leaves of kudzu were studied by ultra-high-performance liquid chromatography electrospray ionization tandem mass spectrometry. A total of 446 metabolites were identified, which were mainly divided into eight categories; 40 unique compounds were detected in roots. Multivariate statistical analysis showed that there were significant differences in the contents of metabolites in the roots, stems and leaves of kudzu, and the most significant differences were found in the roots and stems. Most flavonoids and terpenoids accumulated in roots, while alkaloids, flavonoid glycosides, lignans and coumarins accumulated in stems and leaves. In addition, isoflavones accumulated least in stems and most in roots. These results improved our understanding of the accumulation of metabolites in kudzu and provided a reference for the full study of the medicinal value of different parts of kudzu.

Widely targeted metabolomics analysis reveals the differences in nonvolatile compounds of citronella before and after drying.

Citronella is used as a spice and a traditional herbal medicine. Dried citronella is easy to store and transport, and it is unclear whether dried citronella has more or fewer medicinal components compared to fresh citronella. In the present study, various metabolites in fresh and dry citronella were detected using a widely targeted metabolomics strategy. We identified 712 metabolites and classified them into 31 categories, and we identified 132 flavonoids. After citronella was dried, the quantities of most kinds of flavonoids increased, but the quantities of amino acids, organic acids, and vitamins decreased, and the quantity of quercetin increased significantly. Therefore, the medicinal value of dry citronella may have increased, and the nutritional value of amino acids and vitamins may have decreased. The results of this study can serve as a new theoretical reference to study citronella and promote its nutrition and medicinal chemical composition.

Sleep characteristic profiles and the correlation with spectrum of metabolic syndrome among older adult: a cross-sectional study.

BACKGROUND: Metabolic Syndrome (MetS) is a common health problem among older adults. Previous studies have revealed the relationship between sleep duration as well as global sleep status and MetS. OBJECTIVES: This study aims to examine the association between the specific sleep characteristic and MetS as well as MetS components among community-dwelling old adults. METHODS: This cross-sectional study included 1499 community residents aged ≥ 60 years. Sleep characteristics were assessed using the Pittsburgh Sleep Quality Index (PSQI) and bed/rise time of the residents. Logistic regression analysis and multiple linear regression analysis were used to examine the associations between sleep characteristics and MetS as well as MetS components. A generalized additive model was built to assess the smooth relationship between triglyceride (TG) levels and sleep duration. RESULTS: Of the 1499 participants, 449 (30.0%) had MetS, and 443 (29.6%) had poor sleep quality. The rise time was found to be associated with MetS (> 6:00 vs. 5:00 ~ 6:00: adjusted OR (95%) = 1.77 (1.17-2.69), P = 0.007). For the MetS components, a U-shaped relationship was first revealed for sleep duration and TG levels (EDF = 1.85, P < 0.001). Furthermore, significant associations also included the associations of subjective sleep quality and daytime dysfunction with hypertension, the associations of sleep efficiency and rise time with hyperglycemia, the associations of rise time with TG levels, and the association of bedtime with waist circumference. CONCLUSIONS: The different sleep characteristics were associated with different MetS components.

Cognitive leisure activity and all-cause mortality in older adults: a 4-year community-based cohort.

BACKGROUND: Cognitive leisure activity, such as reading, playing mahjong or cards and computer use, is common among older adults in China. Previous studies suggest a negative correlation between cognitive leisure activity and cognitive impairment. However, the relationship between cognitive leisure activity and all-cause mortality has rarely been reported. OBJECTIVES: This study aims to explore the relationships between cognitive leisure activity and all-cause mortality in a community-based older people cohort in China. METHODS: The current study sample comprised 4003 community residents aged ≥60 y who were enrolled in June 2015, and were followed up every year from 2015 to 2018. Reading, playing mahjong or cards and computer use were measured by questionnaires and summed into a cognitive leisure activity index (CLAI) score. Time-Dependent Cox Regression Model and Kaplan-Meier survival analysis were used to examine the association of cognitive leisure activity with all-cause mortality. RESULTS: During the 4-year follow-up of 4003 participants, 208 (5.2%) deaths were registered. Of all participants, 66.8, 26.7, 6.1 and 0.35% reported CLAI scores of 0, 1, 2 and 3, respectively. A strong association was noted between the CLA score and all-cause mortality (adjusted hazard ratio [HR] = 0.72, 95% confidence intervals [CI]: 0.54-0.97, P = 0.028). Stratified analysis suggested that a higher CLAI score was significantly associated with a decreased risk of all-cause mortality mainly among those who were male, aged ≥80 y, cognitively impaired, and not diagnosed with cancer (P < 0.05). CONCLUSION: Cognitive leisure activity was positively associated with reduced risk of death from all cause among the older people in major city of China, which helped promote a comprehensive understanding of health characteristics at advanced ages.

A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5.

BACKGROUND: Neuronal ceroid lipofuscinosis type 5 (CLN5) is a rare form of neuronal ceroid lipofuscinoses (NCLs) which are a group of inherited neurodegenerative diseases characterized by progressive intellectual and motor deterioration, visual failure, seizures, behavioral changes and premature death. CLN5 was initially named Finnish variant late infantile NCL, it is now known to be present in other ethnic populations and with variable age of onset. Few CLN5 patients had been reported in Chinese population. CASE PRESENTATION: In this paper, we report the symptoms of a Chinese patient who suffer from developmental regression and grand mal epilepsy for several years. The DNA was extracted from peripheral blood of proband and both parents, and then whole exome sequencing was performed using genomic DNA. Both sequence variants and copy number variants (CNVs) were analyzed and classified according to guidelines. As the result, a novel frameshift mutation c.718_719delAT/p.Met240fs in CLN5 and a de novo large deletion at 13q21.33-q31.1 which unmasked the frameshift mutation were identified in the proband. Despite the large de novo deletion, which can be classified as a pathogenic copy number variant (CNV), the patient's clinical presentation is mostly consistent with that of CLN5, except for early developmental delay which is believed due to the large deletion. Both variants were detected simultaneously by exome sequencing. CONCLUSIONS: This is the first report of whole gene deletion in combination with a novel pathogenic sequence variant in a CLN5 patient. The two mutations detected with whole exome sequencing simultaneously proved the advantage of the sequencing technology for genetic diagnostics.

Changes in frailty among community-dwelling Chinese older adults and its predictors: evidence from a two-year longitudinal study.

BACKGROUND: It is important to clarify the transitions and related factors of frailty for prevention of frailty. We evaluated the transitions of frailty among community-dwelling older adults and examined the predictors of the transitions. METHODS: A cohort study was conducted among 3988 community residents aged ≥60 years during 2015 and 2017. A multiple deficits approach was used to construct the Frailty Index (FI) according to the methodology of FI construction, and sociodemographic characteristics and lifestyles were also collected in 2015. After 2-year follow-up, the transitions of frailty between baseline and were evaluated. Multinomial logistic regressions were used to examine associations between predictors and the transitions of frailty. RESULTS: The proportion of robust, prefrail, and frail was 79.5, 16.4, and 4.1% among 3988 participants at baseline, which changed to 68.2, 23.0, and 8.8% after 2 years with 127 deaths and 23 dropped out. Twelve kinds of transitions from the three frailty statuses at baseline to four outcomes at follow-up (including death) significantly differed within each of gender and age group, as well between genders and age groups. Among these, 7.8% of prefrail or frail elders improved, 70.0% retained their frailty status, and 22.2% of robust or prefrail elders worsened in frailty status. In multivariable models, age was significantly associated with changes in frailty except for in the frail group; higher educational level and working predicted a lower risk of robust worsening. Of the lifestyle predictors, no shower facilities at home predicted a higher risk of robust worsening; more frequent physical exercise predicted a lower risk of robust worsening and a higher chance of frailty improvement; more frequent neighbor interaction predicted a lower risk of robust worsening and prefrail worsening; and more frequent social participation predicted a higher chance of prefrail improvement. CONCLUSIONS: The status of frailty was reversible among community-dwelling elderly, and sociodemographic and lifestyle factors were related to changes in frailty. These findings help health practitioners to recognize susceptible individuals in a community and provide health promotional planning to target aged populations.

Prevalence of tobacco related chronic diseases and its role in smoking cessation among smokers in a rural area of Shanghai, China: a cross sectional study.

BACKGROUND: Tobacco smoking is a recognized risk factor for many chronic diseases and previous study evidences have indicated that smokers receive smoking cessation service after the diagnosis of chronic diseases increases successful rate in quitting. But the prevalence of tobacco related chronic diseases (TCD) among smokers, as well as the role of TCD diagnosis in smoking cessation is still unclear in China. METHODS: From June 2016 to December 2017, we sampled 36, 698 residents aged over 18 years by a three stage sampling in Songjiang district, Shanghai. We conducted a cross-sectional study to understand the prevalence of TCD among smokers, and the role of TCD diagnosis in smoking cessation among ex-smokers as well as the smoking cessation attempt among current smokers. RESULTS: Over all, the prevalence of current smoking is 19.78% (48.36% for male and 0.22% for female). 15.93% of smokers have stopped smoking successfully (1, 376/8, 636). The prevalence of ten selected TCDs among smokers range from 0.63% (Chronic Obstructive Pulmonary Disease, COPD) to 36.31% (hypertension). All of 1, 376 ex-smokers had at least one kind of TCD, and 52.33% of them stop smoking after the diagnosis of TCD, the time interval between TCD diagnosis and smoking cessation ranges from 0 to 65 years, with a median of 9 years. Smokers with TCD had higher prevalence of quit smoking, and current smokers with TCD had higher smoking cessation attempt proportion. CONCLUSIONS: The prevalence of current smoking is still very high among male residents in rural area of Shanghai, and the occurrence of TCD even non-lethal one could provide an opportunity for doctors to assist the smoking cessation among smokers.

Ultra-sensitive speciation analysis of mercury by CE-ICP-MS together with field-amplified sample stacking injection and dispersive solid-phase extraction.

A simple dispersive solid-phase extraction (DSPE) used to extract and preconcentrate ultra-trace MeHg, EtHg and Hg(2+) from water sample, and a sensitive method for the simultaneous analysis of MeHg, EtHg and Hg(2+) by using capillary electrophoresis-inductively coupled plasma mass spectrometry (CE-ICP-MS) with field-amplified sample stacking injection (FASI) were first reported in this study. The DSPE used thiol cotton particles as adsorbent, and is simple and effective. It can be used to extract and preconcentrate ultra-trace mercury compounds in water samples within 30 min with a satisfied recovery and no mercury species alteration during the process. The FASI enhanced the sensitivity of CE-ICP-MS with 25-fold, 29-fold and 27-fold for MeHg, EtHg and Hg(2+) , respectively. Using FASI-CE-ICP-MS together with DSPE, we have successfully determined ultra-trace MeHg, EtHg and Hg(2+) in tap water with a limits of quantification (LOQs) of 0.26-0.45 pg/mL, an RSD (n = 3) < 6% and a recovery of 92-108%. Ultra-high sensitivity, as well as much less sample and reagent consumption and low operating cost, make our method a valuable technique to the speciation analysis of ultra-trace mercury.

Speciation analysis of lead in marine animals by using capillary electrophoresis couple online with inductively coupled plasma mass spectrometry.

We herein reported a environment-friendly microwave-assisted extraction used to extract trace lead compounds from marine animals and a ultrasensitive method for the analysis of Pb²âº, trimethyl lead chloride (TML) and triethyl lead chloride (TEL) by using CE-ICP-MS. The extraction method is simple and has a high extracting efficiency. It can be used to completely extract both inorganic lead and organolead in marine animal samples without altering its species. The analytical method has a detection limit as low as 0.012-0.084 ng Pb/mL for Pb²âº, TML, and TEL, and can be used to determine ultratrace Pb²âº, TML, and TEL in marine animals directly without any preconcentration. With the help of above methods, we have successfully determined Pb²âº, TML, and TEL in clam and oyster tissue within 20 min with a RSD (n = 6) < 5% and a recovery of 91-104%. Our results showed that Pb²âº was the main species of lead in clam and oyster, and organolead (TML) was only found in oyster. The proposed method provides a realistic approach for the accurate evaluation of lead pollution in seafood.

The effect of PK gene overexpression on content and antioxidant properties of carotenoids in marine microalga Dunaliella parva.

Dunaliella parva can extensively accumulate carotenoids, which is a promising raw material for carotenoids production. Carotenoids have important medicinal value. D. parva is an ideal organism for studying the mechanism of carotenoid synthesis. Our previous study identified a transcription factor DpAP2 which could regulate carotenoid synthesis in D. parva. In addition, DpAP2 could interact with three proteins with different activities (DNA binding transcription factor activity, protein kinase activity, and alpha-D-phosphohexomutase). To investigate the function of PK gene encoding interacting protein of DpAP2 with protein kinase activity in D. parva, PK gene was cloned into vector pBI221-GFP-UbiΩ-CAT and transformed into D. parva in this study. The results showed that overexpression of PK gene enhanced the contents of carotenoids, total sugars, proteins, and antioxidant activities of carotenoid extract such as superoxide radical scavenging activity, reducing power, hydroxyl radical scavenging activity in transgenic D. parva with overexpression of PK gene. This study explored the function of PK gene, and improved the medicinal value of D. parva.

A nonsense CC2D1A variant is associated with congenital anomalies, motor delay, hypotonia, and slight deformities.

Background: Autosomal recessive intellectual developmental disorder-3 is caused by homozygous or compound heterozygous mutations in the CC2D1A gene. The disorder is characterized by intellectual disability (ID) and autism spectrum disorder (ASD). To date, 39 patients from 17 families with CC2D1A -related disorders have been reported worldwide, in whom only six pathogenic or likely pathogenic loss-of-function variants and three variants of uncertain significance (VUS) in the CC2D1A gene have been identified in these patients. Methods: We described a patient with ID from a non-consanguineous Chinese family and whole-exome sequencing (WES) was used to identify the causative gene. Results: The patient presented with severe ID and ASD, speech impairment, motor delay, hypotonia, slight facial anomalies, and finger deformities. Threatened abortion and abnormal fetal movements occurred during pregnancy with the proband but not his older healthy sister. WES analysis identified a homozygous nonsense variant, c.736C > T (p.Gln246Ter), in the CC2D1A gene. In addition, six novel likely pathogenic CC2D1A variants were identified by a retrospective review of the in-house database. Conclusions: This study expands the genetic and clinical spectra of CC2D1A-associated disorders, and may aid in increasing awareness of this rare condition. Our findings have provided new insights into the clinical heterogeneity of the disease and further phenotype-genotype correlation, which could help to offer scope for more accurate genetic testing and counseling to affected families.

A genetic variant in the MAST1 gene is associated with mega-corpus-callosum syndrome with hypoplastic cerebellar vermis, in a fetus.

BACKGROUND: Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations is a rare neurological disorder that is associated with typical clinical and imaging features. The syndrome is caused by pathogenic variants in the MAST1 gene, which encodes a microtubule-associated protein that is predominantly expressed in postmitotic neurons in the developing nervous system. METHODS: Fetal DNA from umbilical cord blood samples and genomic DNA from peripheral blood lymphocytes were subjected to whole-exome sequencing. The potential causative variants were verified by Sanger sequencing. RESULTS: A 26-year-old primigravid woman was referred to our prenatal center at 25 weeks of gestation due to abnormal ultrasound findings in the brain of the fetus. The brain abnormalities included wide cavum septum pellucidum, shallow and incomplete bilateral lateral fissure cistern, bilateral dilated lateral ventricles, hyperplastic corpus callosum, lissencephaly, and cortical dysplasia. No obvious abnormalities were observed in the brainstem or cerebellum hemispheres, but the cerebellum vermis was small. Whole-exome sequencing identified a de novo, heterozygous missense variant, c.695T>C(p.Leu232Pro), in the MAST1 gene and a genetic diagnosis of mega-corpus-callosum syndrome was considered. CONCLUSION: This study is the first prenatal case of MAST1-related disorder reported in the Chinese population and has expanded the mutation spectrum of the MAST1 gene.

Full-color Persistent Room-temperature Phosphorescence from Carbon Dot Composites Based on a Single Nonaromatic Carbon Source.

Herein, a series of carbon dot composites (CDC) with full-color and long-lived room-temperature phosphorescence (RTP) are prepared by a simple solid-phase one-step method from a single non-conjugated and non-aromatic carbon source. The RTP emission wavelength can be adjusted from 462 to 623 nm by changing the feeding ratio and reaction temperature. The luminescent lifetime and quantum yield of a green emissive CDC (AB-CDC-3) reach 1.1 s and 39%, respectively, because of the close interaction between carbon dots and inorganic matrix. Due to the existence of multiple luminescent centers, these CDC exhibit excitation wavelength-dependent RTP and a white emission when excited at a specific wavelength. A single-component afterglow luminescent diode based on AB-CDC-4 shows a high-quality white emission with CIE of (0.30, 0.33) and color-rendering index of 88. Based on the unique photophysical properties of the composites, they exhibit huge application potential in the field of multilevel anti-counterfeiting, fingerprint identification, and optoelectronic devices.

Physiological changes of microalga Dunaliella parva under the treatment of PEG, CaCl2.

Carotenoids are antioxidants, which reduce various chronic diseases of human, and have many industrial applications. The halophilic Dunaliella parva (D. parva) is rich in carotenoids. The compounds CaCl2 and PEG are the popular metabolic enhancers. To further enhance carotenogenesis, D. parva was treated with two compounds polyethylene glycol (PEG) and CaCl2. Application of CaCl2 and PEG enhanced the carotenoids contents and the antioxidant activities of carotenoids compared to control group (no treatment of CaCl2 or PEG). The highest carotenoids contents were obtained by treating D. parva with 40 ppm CaCl2 (3.11 mg/g dry weight, DW) and 80 ppm PEG (2.78 mg/g DW) compared with control group (1.96 mg/g DW). When D. parva was treated with 40 ppm CaCl2 and 80 ppm PEG, protein contents reached the highest values (90.28 mg/g DW and 89.57 mg/g DW) compared to that of control group (73.42 mg/g DW). The antioxidant activities of carotenoids samples were determined. Generally, the antioxidant activities of carotenoids from D. parva treated with PEG and CaCl2 were superior to that of control group. The antioxidant activities of carotenoids mainly contained reducing power, hydroxyl radical scavenging activity and superoxide radical scavenging activity. The reducing powers of carotenoids extracts from 20 ppm CaCl2 group (2.07%/mg carotenoids) and 120 ppm PEG group (1.59%/mg carotenoids) were significantly higher than that of control group (<1.25%/mg carotenoids). The superoxide radical scavenging activities of carotenoids extracts from 40 ppm CaCl2 group (70.33%/mg carotenoids) and 80 ppm PEG group (65.94%/mg carotenoids) were significantly higher than that of control group (<55%/mg carotenoids). This paper laid a foundation for massive accumulation of carotenoids in microalga D. parva.