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1.
Respirol Case Rep ; 12(6): e01402, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38903948

ABSTRACT

Pulmonary endometriosis is a rare disease of uncertain pathogenesis which generally presents with the cyclic clinical symptoms and catamenial changes noticed on computer tomography during menstruation. We report a case of a 33-year-old woman with recurrent hemoptysis for 1 year. The patient did not exhibit a temporal relationship between her periods and the onset of hemoptysis. A chest computed tomography scan showed multiple pseudocavities in the lower lobe of the right lung and multiple nodules in both lower lobes of the lungs. The right lower lobe wedge resection was performed. Postoperative pathological examination showed pulmonary endometriosis which is a rare cause of hemoptysis.

2.
Adipocyte ; 13(1): 2365211, 2024 12.
Article in English | MEDLINE | ID: mdl-38858810

ABSTRACT

microRNAs (miRNAs), a subclass of noncoding short RNAs, direct cells fate decisions that are important for cell proliferation and cell lineage decisions. Adipogenic differentiation contributes greatly to the development of white adipose tissue, involving of highly organized regulation by miRNAs. In the present study, we screened and identified 78 differently expressed miRNAs of porcine BMSCs during adipogenic differentiation. Of which, the role of miR-29c in regulating the proliferation and adipogenic differentiation was proved and detailed. Specifically, over-expression miR-29c inhibits the proliferation and adipogenic differentiation of BMSCs, which were reversed upon miR-29c inhibitor. Interference of IGF1 inhibits the proliferation and adipogenic differentiation of BMSCs. Mechanistically, miR-29c regulates the proliferation and adipogenic differentiation of BMSCs by targeting IGF1 and further regulating the MAPK pathway and the PI3K-AKT-mTOR pathway, respectively. In conclusion, we highlight the important role of miR-29c in regulating proliferation and adipogenic differentiation of BMSCs.


Subject(s)
Adipogenesis , Cell Differentiation , Cell Proliferation , Mesenchymal Stem Cells , MicroRNAs , Animals , Mesenchymal Stem Cells/metabolism , Mesenchymal Stem Cells/cytology , MicroRNAs/genetics , MicroRNAs/metabolism , Swine , Adipogenesis/genetics , Cells, Cultured , Signal Transduction , Adipocytes/cytology , Adipocytes/metabolism , Bone Marrow Cells/cytology , Bone Marrow Cells/metabolism
3.
BMC Med Genomics ; 17(1): 135, 2024 May 21.
Article in English | MEDLINE | ID: mdl-38773466

ABSTRACT

BACKGROUND: Thoracic aortic aneurysm/dissection (TAAD) and patent ductus arteriosus (PDA) are serious autosomal-dominant diseases affecting the cardiovascular system. They are mainly caused by variants in the MYH11 gene, which encodes the heavy chain of myosin 11. The aim of this study was to evaluate the genotype-phenotype correlation of MYH11 from a distinctive perspective based on a pair of monozygotic twins. METHODS: The detailed phenotypic characteristics of the monozygotic twins from the early fetal stage to the infancy stage were traced and compared with each other and with those of previously documented cases. Whole-exome and Sanger sequencing techniques were used to identify and validate the candidate variants, facilitating the analysis of the genotype-phenotype correlation of MYH11. RESULTS: The monozygotic twins were premature and presented with PDA, pulmonary hypoplasia, and pulmonary hypertension. The proband developed heart and brain abnormalities during the fetal stage and died at 18 days after birth, whereas his sibling was discharged after being cured and developed normally post follow-up. A novel variant c.766 A > G p. (Ile256Val) in MYH11 (NM_002474.2) was identified in the monozygotic twins and classified as a likely pathogenic variant according to the American College of Medical Genetics/Association for Molecular Pathology guidelines. Reviewing the reported cases (n = 102) showed that the penetrance of MYH11 was 82.35%, and the most common feature was TAAD (41.18%), followed by PDA (22.55%), compound TAAD and PDA (9.80%), and other vascular abnormalities (8.82%). The constituent ratios of null variants among the cases with TAAD (8.60%), PDA (43.8%), or compound TAAD and PDA (28.6%) were significantly different (P = 0.01). Further pairwise comparison of the ratios among these groups showed that there were significant differences between the TAAD and PDA groups (P = 0.006). CONCLUSION: This study expands the mutational spectrum of MYH11 and provides new insights into the genotype-phenotype correlation of MYH11 based on the monozygotic twins with variable clinical features and outcomes, indicating that cryptic modifiers and complex mechanisms beside the genetic variants may be involved in the condition.


Subject(s)
Genetic Association Studies , Myosin Heavy Chains , Twins, Monozygotic , Humans , Twins, Monozygotic/genetics , Myosin Heavy Chains/genetics , Male , Infant, Newborn , Phenotype , Cardiac Myosins/genetics , Aortic Aneurysm, Thoracic/genetics , Ductus Arteriosus, Patent/genetics , Female , Mutation , Aortic Dissection/genetics
4.
Clin Rheumatol ; 43(1): 561-568, 2024 Jan.
Article in English | MEDLINE | ID: mdl-37755548

ABSTRACT

OBJECTIVES: We aimed to analyze the clinical characteristics and outcomes of patients with synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. METHODS: The clinical records of 64 patients with SAPHO syndrome were collected, and the treatment and outcomes of 27 patients were followed up. The patients were divided into three groups according to the site of bone lesions: only anterior chest wall (ACW) involvement, only spinal involvement, and bone lesion involvement at both sites. The clinical characteristics and outcomes were compared. The clinical characteristics of the patients with and without peripheral joint involvement were compared. RESULTS: Among all patients, 31.25% (20/64) had only ACW involvement, 15.63% (10/64) had only spinal involvement, and 53.12% (34/64) had both ACW and spinal involvement. Peripheral joint involvement was observed in 25.00% (16/64) of the patients. Patients with only spinal involvement were older than those with only ACW involvement (p = 0.006). Patients with both ACW and spinal involvement were older than those with only ACW involvement (p = 0.002) and had a longer diagnosis delay (p = 0.015). Patients with peripheral joint involvement were younger than those without peripheral joint involvement (p = 0.028). During follow-up, 88.89% (24/27) of patients had good outcomes. Twenty-two patients were treated with non-steroidal anti-inflammatory drugs + Iguratimod (IGU), and the outcomes of 90.91% (20/22) improved. CONCLUSIONS: A relationship may exist between the sites of bone lesions and clinical characteristics of patients with SAPHO syndrome. The clinical outcomes of these patients may be good, and IGU may be effective in treating SAPHO syndrome. Key Points • This study is the first long-term follow-up on the effectiveness of iguratimod in treating patients with SAPHO. • This study revealed that patients with SAPHO and different bone lesion sites may present with different clinical characteristics.


Subject(s)
Acquired Hyperostosis Syndrome , Bone Diseases , Osteitis , Humans , Acquired Hyperostosis Syndrome/diagnosis , Acquired Hyperostosis Syndrome/drug therapy , Acquired Hyperostosis Syndrome/pathology , Cohort Studies , Osteitis/diagnosis , Prognosis
5.
Am J Transl Res ; 15(9): 5691-5698, 2023.
Article in English | MEDLINE | ID: mdl-37854231

ABSTRACT

OBJECTIVE: To explore the effect of comprehensive nursing on patients with chalazion undergoing intense pulsed light (IPL) and its influence on postoperative recurrence. METHODS: In this retrospective study, the medical records of 72 patients who received IPL treatment for chalazion from October 2021 to February 2023 were analyzed. Among them, 33 patients treated with comprehensive nursing were included in the research group (RG) and 39 patients treated with routine nursing were included in the control group (CG). The treatment effect, complications and recurrence were compared between the two groups. The psychological state of patients and their satisfaction about the nursing were recorded and compared between the two groups. RESULTS: After nursing, the severity of unhealthy emotion in the RG was obviously better than that in the CG (P=0.033); The overall response rate in the RG was obviously higher than that in the CG (P=0.035). The nursing satisfaction in RG was significantly higher than that in the CG (P=0.035). The incidence of complications in RG was obviously lower than that in the CG (P=0.045). CONCLUSION: Comprehensive nursing is effective in improving the therapeutic effect and reducing the postoperative recurrence rate for patients with chalazion.

6.
BMC Public Health ; 23(1): 1510, 2023 08 09.
Article in English | MEDLINE | ID: mdl-37559043

ABSTRACT

BACKGROUND: Smoking cessation can effectively reduce the risk of death, alleviate respiratory symptoms, and decrease the frequency of acute exacerbations in patients with chronic obstructive pulmonary disease (COPD). Effective smoking cessation strategies are crucial for the prevention and treatment of COPD. Currently, clinical interventions based on theoretical frameworks are being increasingly used to help patients quit smoking and have shown promising results. However, theory-guided smoking cessation interventions have not been systematically evaluated or meta-analyzed for their effectiveness in COPD patients. To improve smoking cessation rates, this study sought to examine the effects of theory-based smoking cessation interventions on COPD patients. METHODS: We adhered to the PRISMA guidelines for our systematic review and meta-analysis. The Cochrane Library, Web of Science, PubMed, Embase, Wanfang, CNKI, VIP Information Services Platform, and China Biomedical Literature Service System were searched from the establishment of the database to April 20, 2023. The study quality was assessed using the Cochrane Collaboration's risk assessment tool for bias. The revman5.4 software was used for meta-analysis. The I2 test was used for the heterogeneity test, the random effect model and fixed effect model were used for meta-analysis, and sensitivity analysis was performed by excluding individual studies. RESULTS: A total of 11 RCTs involving 3,830 patients were included in the meta-analysis. Results showed that theory-based smoking cessation interventions improved smoking cessation rates, quality of life, and lung function in COPD patients compared to conventional nursing. However, these interventions did not significantly affect the level of nicotine dependence in patients. CONCLUSION: Theory-based smoking cessation intervention as a non-pharmacologically assisted smoking cessation strategy has a positive impact on motivating COPD patients to quit smoking and improving their lung function and quality of life. TRIAL REGISTRATION: PROSPERO registration Number: CRD42023434357.


Subject(s)
Pulmonary Disease, Chronic Obstructive , Smoking Cessation , Humans , Smoking Cessation/methods , Quality of Life , Behavior Therapy/methods , Pulmonary Disease, Chronic Obstructive/therapy , Smoking
7.
Anal Chem ; 95(31): 11657-11663, 2023 Aug 08.
Article in English | MEDLINE | ID: mdl-37490501

ABSTRACT

Transition-metal (oxy)hydroxides are among the most active and studied catalysts for the oxygen evolution reaction in alkaline electrolytes. However, the geometric distribution of active sites is still elusive. Here, using the well-defined crystalline iron-substituted cobalt hydroxide as a model catalyst, we reported the scanning electrochemical cell microscopy (SECCM) study of single-crystalline nanoplates, where the oxygen evolution reaction at individual nanoplates was isolated and evaluated independently. With integrated prior- and post-SECCM scanning electron microscopy of the catalyst morphology, correlated structure-activity information of individual electrocatalysts was obtained. Our result reveals that while the active sites are largely located at the edges of the pristine Co(OH)2 nanoplates, the Fe lattice incorporation significantly promotes the basal plane activities. Our approach of correlative imaging provides new insights into the effect of iron incorporation on active site distribution across nano-electrocatalysts.

8.
Int J Biol Macromol ; 245: 125485, 2023 Aug 01.
Article in English | MEDLINE | ID: mdl-37348585

ABSTRACT

Abundant starch was isolated from Dioscorea zingiberensis C.H. Wright, a novel and underutilized industrial crop resource. In this study, an intelligent packaging film able to indicate food freshness was developed and characterized. D. zingiberensis starch (DZS) was bleached first, and its particle size, total starch content, amylose content, and gelatinization temperature were then measured. Butterfly pea (Clitoria ternatea Linn.) flowers were selected as the source of polyphenols, which rendered the prepared film intelligent and progressively blue-violet. SEM and FT-IR analyses showed the homogeneous dispersion of butterfly pea flower extract (BPE) in the film. The BPE-loaded film showed improved flexibility and resistance to UV and oxidation while maintaining sufficient mechanical strength and physical properties. Moreover, the film underwent a distinguishable color change from red to blue-violet and finally to green-yellow with increasing pH from 2 to 13. Similar color alteration also occurred when the film was exposed to ammonia. When the film was used to monitor the freshness of chicken stored at room temperature, it exhibited an obvious color change, implying its deterioration. Therefore, the newly developed BPE-DZS film, which was produced from readily accessible natural substances, can serve as an intelligent packaging material, indicating food freshness and prolonging shelf life.


Subject(s)
Dioscorea , Starch , Starch/chemistry , Anthocyanins/chemistry , Spectroscopy, Fourier Transform Infrared , Food Packaging , Meat , Hydrogen-Ion Concentration
9.
Carbohydr Polym ; 312: 120795, 2023 Jul 15.
Article in English | MEDLINE | ID: mdl-37059535

ABSTRACT

Glycosphingolipids (GSLs) in human milk regulate the immune system, support intestinal maturation, and prevent gut pathogens. The structural complexity and low abundance of GSLs limits their systematic analysis. Here, we coupled the use of monosialoganglioside 1-2-amino-N-(2-aminoethyl) benzamide (GM1-AEAB) derivatives as internal standards with HILIC-MS/MS to qualitatively and quantitatively compare GSLs in human, bovine, and goat milk. One neutral glycosphingolipid (GB) and 33 gangliosides were found in human milk, of which 22 were newly detected and three were fucosylated. Five GB and 26 gangliosides were identified in bovine milk, of which 21 were newly discovered. Four GB and 33 gangliosides were detected in goat milk, 23 of them newly reported. GM1 was the main GSL in human milk; whereas disialoganglioside 3 (GD3) and monosialogangloside 3 (GM3) were dominant in bovine and goat milk, respectively; N-acetylneuraminic acid (Neu5Ac) was detected in >88 % of GSLs in bovine and goat milk. N-hydroxyacetylneuraminic acid (Neu5Gc)-modified GSLs were 3.5 times more abundant in goat than in bovine milk; whereas GSLs modified with both Neu5Ac and Neu5Gc were 3 times more abundant in bovine than in goat milk. Given the health benefits of different GSLs, these results will facilitate the development of custom-designed human milk-based infant formula.


Subject(s)
Glycosphingolipids , Tandem Mass Spectrometry , Humans , Animals , Glycosphingolipids/chemistry , G(M1) Ganglioside/analysis , Gangliosides/analysis , Gangliosides/chemistry , Milk, Human/chemistry , Goats
10.
J Agric Food Chem ; 71(14): 5667-5673, 2023 Apr 12.
Article in English | MEDLINE | ID: mdl-36995191

ABSTRACT

Methods for the detection of adulterated milk are essential for assessing the quality of goat milk products. We hypothesized that goat milk oligosaccharides could provide a basis for this purpose and compared the levels of α3'-galactosyllactose (α3'-GL) and N-acetylhexaminyllactose (NHL) between goat milk and bovine milk oligosaccharides using reverse-phase high-performance liquid chromatography. The α3'-GL was detected to be three times more abundant in goat milk than in bovine milk, whereas NHL showed the opposite trend. Linear relationships were established between the relative proportions of α3'-GL and NHL levels for different ratios of bovine and goat milk, with a minimum detection limit of 2% bovine milk. The new method was validated by analyses of adulterants in eight commercially available goat dairy products. Overall, the degree of adulteration in goat milk products can be determined based on the relative proportions of α3'-GL and NHL.


Subject(s)
Milk , Oligosaccharides , Animals , Milk/chemistry , Oligosaccharides/analysis , Goats
11.
Environ Sci Pollut Res Int ; 30(49): 107317-107330, 2023 Oct.
Article in English | MEDLINE | ID: mdl-36515878

ABSTRACT

Microfibers are a new type of pollutants that are widely distributed in water bodies. And the simultaneous removal of pollutants in water is popular research in the field of water treatment. In this study, magnesium hydroxide was used as coagulant to investigate the performance and mechanism of coagulation and removal of dyes (reactive orange) and microfibers (MFs). The presence of dyestuff in the composite system promoted the removal of microfibers, and the maximum removal efficiency of both could reach 95.55% and 95.35%. The coagulation mechanism was explored by scanning electron microscopy (SEM), Fourier transform infrared spectroscopy (FTIR), and zeta potential. The removal of reactive orange and microfibers relied on electrical neutralization, sweep flocculation, and adsorption mechanisms. Turbidity can enhance the removal efficiency of both. Boosting the rotational speed can increase the removal efficiency of microfibers. This study provides an important theoretical support for an in-depth understanding of the characteristics and mechanisms of coagulation for the removal of complex pollutants from printing and dyeing wastewater.


Subject(s)
Water Pollutants, Chemical , Water Purification , Magnesium Hydroxide/chemistry , Coloring Agents , Water Pollutants, Chemical/chemistry , Wastewater , Flocculation , Adsorption , Water Purification/methods
12.
J Alzheimers Dis ; 91(3): 1097-1105, 2023.
Article in English | MEDLINE | ID: mdl-36565122

ABSTRACT

BACKGROUND: The association between cataracts and cognitive functions has been reported in several studies. However, the dynamic trajectories of cognitive changes in patients with cataracts remain unelucidated. OBJECTIVE: The aim of the study was to evaluate the dynamic trajectories of cognitive changes in patients with cataracts. METHODS: This observational cohort study recruited 1,146 patients with age-related cataracts (ARC) from the Department of Ophthalmology, Daping Hospital, from September 2020 to November 2021. The cognitive functions of the patients were assessed using a Chinese version of the Telephone Interview of Cognitive Status-40 (TICS-40) test at baseline and 6 months of follow-up. The trajectories and the associated risk factors for the longitudinal cognitive decline during the 6-month follow-up were investigated. RESULTS: Patients with severe ARC [median (IQR): 0 month, 24 (22, 25); 6 months, 23 (21,25)] had lower TICS-40 scores than those with non-severe ARC [0 month, 31 (24, 33), p < 0.001; 6 months, 31 (23,33), p < 0.001] and controls [0 month, 32 (28, 35), p < 0.001; 6 months, 32 (28, 35), p < 0.001] at both baseline and 6 months of follow-up. Age (OR: 1.311, 95% CI: 1.229 to 1.398) and cataract grade (OR: 5.569, 95% CI: 2.337 to 13.273) were found to be the risk factors of cognitive decline as indicated by a decrease in the TICS-40 scores. CONCLUSION: ARC is associated with an increased risk of longitudinal cognitive decline; however, the reversibility of such declines needs to be investigated further.


Subject(s)
Cataract , Cognitive Dysfunction , Humans , Aged , Longitudinal Studies , Cohort Studies , Cognition , Cataract/complications , Cataract/epidemiology , Cognitive Dysfunction/epidemiology , Cognitive Dysfunction/psychology
13.
Comput Intell Neurosci ; 2022: 9775524, 2022.
Article in English | MEDLINE | ID: mdl-35880059

ABSTRACT

In today's society, the pressure of family care is increasing and people's demand for childcare services is increasing. At the same time, the government also pays more attention to the problem of 0 ∼ 3-year-old infant care services which are desperately needed in every society throughout the world. General studies have been carried out in literature where results show that in families with only one child, long working hours and with more than two children, the three factors of children's age gap, attention to nursery facilities, attention to environment and food safety have a negative impact on people's demand for nursery services. From these studies, we have extracted three vital factors that have a positive impact on people's demand for childcare services: grandparents' help to take care of children, parents' age, and psychological tolerance of childcare service fees. In this paper, we have utilized one of the most commonly used methodology, i.e., big data, to smoothly resolve the accessibility issue of urban non-profit public nursery services. In order to verify and evaluate our claim, we have implemented the proposed scheme and compared the results which shows that exceptional performance of the propose scheme.


Subject(s)
Big Data , Child , Child, Preschool , Humans , Infant
14.
Proc Natl Acad Sci U S A ; 119(29): e2205827119, 2022 Jul 19.
Article in English | MEDLINE | ID: mdl-35858338

ABSTRACT

Heterogeneous bubble nucleation is one of the most fundamental interfacial processes ranging from nature to technology. There is excellent evidence that surface topology is important in directing heterogeneous nucleation; however, deep understanding of the energetics by which nanoscale architectures promote nucleation is still challenging. Herein, we report a direct and quantitative measurement of single-bubble nucleation on a single silica nanoparticle within a microsized droplet using scanning electrochemical cell microscopy. Local gas concentration at nucleation is determined from finite element simulation at the corresponding faradaic current of the peak-featured voltammogram. It is demonstrated that the criteria gas concentration for nucleation first drops and then rises with increasing nanoparticle radius. An optimum nanoparticle radius around 10 nm prominently expedites the nucleation by facilitating the special topological nanoconfinements that consequently catalyze the nucleation. Moreover, the experimental result is corroborated by our theoretical calculations of free energy change based on the classic nucleation theory. This study offers insights into the impact of surface topology on heterogenous nucleation that have not been previously observed.

15.
J Phys Chem Lett ; 13(26): 6153-6163, 2022 Jul 07.
Article in English | MEDLINE | ID: mdl-35762985

ABSTRACT

Gas bubbles are found in diverse electrochemical processes, ranging from electrolytic water splitting to chlor-alkali electrolysis, as well as photoelectrochemical processes. Understanding the intricate influence of bubble evolution on the electrode processes and mass transport is key to the rational design of efficient devices for electrolytic energy conversion and thus requires precise measurement and analysis of individual gas bubbles. In this Perspective, we review the latest advances in single-entity measurement of gas bubbles on electrodes, covering the approaches of voltammetric and galvanostatic studies based on nanoelectrodes, probing bubble evolution using scanning probe electrochemistry with spatial information, and monitoring the transient nature of nanobubble formation and dynamics with opto-electrochemical imaging. We emphasize the intrinsic and quantitative physicochemical interpretation of single gas bubbles from electrochemical data, highlighting the fundamental understanding of the heterogeneous nucleation, dynamic state of the three-phase boundary, and the correlation between electrolytic bubble dynamics and nanocatalyst activities. In addition, a brief discussion of future perspectives is presented.

16.
Article in English | MEDLINE | ID: mdl-35585817

ABSTRACT

BACKGROUND: Lavender is an essential commercial crop with multiple varieties grown in the Ili River valley. The lavender essential oils (LEOs) produced from various vary in quality. METHODS: This study evaluated the biological activity of LEOs from the four commonly planted Lavandula angustifolia cultivars (L.Angustifolia 'Xinxun-1'-'Xinxun-4') in Ili. The chemical composition, antioxidant activity, and effect on human skin fibroblasts were analyzed. RESULTS: Gas chromatography results, coupled with flame ionization detection and mass spectrometry of the LEOs, indicated the presence of linalool, linalyl acetate, geranyl acetate, and trans-ß-ocimene as the significant components of the essential oils. All LEOs exhibited significant antioxidant activity, with Xinxun3 oil exhibiting the most vigorous activity. Xinxun2 showed the highest ferrous ion chelating activity and reducing power, displaying the most increased collagen regeneration activity. CONCLUSION: To our knowledge, this is the first report on the collagen regeneration ability of LEO from the Ili river valley and reveals Xinxun2 as a potential collagen regeneration promoter.

17.
Pharmaceuticals (Basel) ; 15(4)2022 Apr 14.
Article in English | MEDLINE | ID: mdl-35455477

ABSTRACT

Although polymeric platinum(IV) (Pt(IV)) prodrugs can reduce the side effects of cisplatin, the efficacy of the prodrug is still limited by its non-targeted distribution, poor penetration in deep tumor tissue, and low cytotoxicity in tumor cells. To improve the clinical potential of polymeric prodrug micelle, we synthesized amphiphilic polymeric Pt(IV) with high Pt content (22.5%), then developed a theranostic nanocomplex by integrating polymeric Pt(IV) with superparamagnetic Mn0.6Zn0.4Fe2O4 via simple self-assembly. Due to the high content of Mn0.6Zn0.4Fe2O4 (41.7% w/w), the theranostic nanocomplex showed high saturation magnetization (103.1 emu g-1) and excellent magnetocaloric effect (404 W g-1), both of them indicating its advantages in efficient magnetic targeting (MT), magnetic hyperthermia (MH), and magnetic resonance imaging (MRI). In vitro, in combination with MH, the theranostic nanocomplex showed as high cytotoxicity as cisplatin because of a significant increase in platinum of cellular uptake. In vivo, the accumulation of theranostic nanocomplex in tumors was increased by MT and confirmed by MRI. Furthermore, MH improved penetration of theranostic nanocomplex in tumors as expanding blackened area in tumors was observed by MRI. Based on these properties, the theranostic nanocomplex, under the assistance of MT and MH, showed the highest tumor growth inhibition rate (88.38%) after different treatments, while the body weight of mice increased slightly, indicating low side effects compared to those of cisplatin. The study provided an advanced theranostic nanocomplex with low toxicity and high efficacy, indicating a great clinical potential of polymeric Pt(IV).

18.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 39(2): 152-156, 2022 Feb 10.
Article in Chinese | MEDLINE | ID: mdl-35076910

ABSTRACT

OBJECTIVE: To identify pathogenic variants in two patients with suspected for Mowat-Wilson syndrome (MWS). METHODS: Genomic DNA was extracted from peripheral blood samples of the patients and his family members, and gene variants were analysis by Trio-whole exome sequences and copy number variation sequencing. RESULTS: Patient 1 was found to carried a de novo heterozygous c.2769C>A (p.Y923*) nonsense variant of ZEB2 gene. The variant was not found in his healthy parents and sister. Patient 2 carried a de novo heterozygous frameshift variant of the ZEB2 gene, namely c.315delC (p.A105Afs*3), which has not been previously reported. Both variants were predicted to be pathogenic and can lead to premature occurrence of stop codons. CONCLUSION: The heterozygous c.2769C>A (p.Y923*) and c.315delC (p.A105Afs*3) variants of the ZEB2 gene probably underlay the pathogenesis in the two patients. Gene testing has facilitated confirmation of the diagnosis and genetic counselling.


Subject(s)
Intellectual Disability , Microcephaly , DNA Copy Number Variations , Facies , Hirschsprung Disease , Humans , Intellectual Disability/genetics , Microcephaly/genetics , Zinc Finger E-box Binding Homeobox 2/genetics
19.
Indian J Cancer ; 59(3): 380-386, 2022.
Article in English | MEDLINE | ID: mdl-34380838

ABSTRACT

Background: Craniofacial resection (CFR) has been regarded as the gold standard for paranasal sinus and nasal cavity (PNSNC) neoplasms. The improvement of surgical procedures has been ongoing in recent years. We analyzed the clinical curative effects of the function-preservation therapy that was mainly using nasal endoscopic surgery along with appropriate radiotherapy and chemotherapy as applicable. Methods: We performed a retrospective analysis of factors that influence the survival time of the 28 patients with PNSNC neoplasms who underwent nasal endoscopic surgery. All patients with tumor lesions underwent a complete resection in en bloc or piecemeal resection. Five cases did not undergo radiotherapy or chemotherapy; the remaining 23 patients had multimodality therapy. Results: The median follow-up time was 41.5 (range = 14-97) months. The overall 3-year survival rate was 78.57% for T3 cancer and 50% for those with T4. T classification (P = 0.031) and multimodality therapy (P = 0.038) were independent prognostic factors for postoperative 3-year survival rate of patients with PNSNC neoplasms. Conclusion: Function-preservation therapy based on the minimally invasive endoscopic resection (MIER) with appropriate adjuvant therapy not only prolonged the overall survival time but also provided an opportunity to preserve organ function at the same time, which helped to improve the patients' quality of life.


Subject(s)
Carcinoma, Squamous Cell , Nose Neoplasms , Paranasal Sinus Neoplasms , Humans , Nasal Cavity/pathology , Nose Neoplasms/pathology , Nose Neoplasms/surgery , Retrospective Studies , Quality of Life , Carcinoma, Squamous Cell/pathology , Paranasal Sinus Neoplasms/surgery , Paranasal Sinus Neoplasms/pathology
20.
Virus Res ; 303: 198502, 2021 10 02.
Article in English | MEDLINE | ID: mdl-34252490

ABSTRACT

Enterovirus A71 (EV-A71) is an important emerging virus posing a threat to children under five years old. Circular RNAs (circRNAs), a novel class of endogenous RNAs, have been recognized to play important roles in the onset and development of viral diseases. However, it has not been determined which specific circRNAs are involved in the pathological mechanisms of EV-A71 infection. In this study, RNA-sequencing (RNA-seq) was conducted to characterize differentially expressed circRNAs during the process of EV-A71 infection. Overall, 8726, 10405 and 4710 circRNAs were detected in the control, EV-A71-12 h and EV-A71-24 h groups, respectively, of which 1851 and 951 circRNAs were differentially expressed in the EV-A71-12 h and EV-A71-24 h groups versus the control group. The overlapping circRNAs in the EV-A71-infected groups were subjected to Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis, which further demonstrated that the host genes of these circRNAs were principally implicated in activities associated with the progression of viral infection, such as immune system process, Wnt signaling pathway, etc. Additionally, qRT-PCR detection showed that six selected circRNAs were identical to the sequencing data. To excavate the key circRNAs in EV-A71 infection, we comprehensively evaluated and integrated the relationship of circRNA/miRNA/mRNA, and eventually screened 2 key circRNA regulatory axes, namely hsa_circ_0017115/hsa-miR-150-5p/EGR1 and hsa_circ_0005060/hsa-miR-4685-5p/MMP2. In summary, our findings not only provide the first comprehensive expression and functional profile of circRNAs in response to EV-A71 infection, but also offer a novel direction to elucidate the molecular mechanism underlying viral pathogenesis and the cellular immune response in host-EV-A71 interactions.


Subject(s)
Enterovirus Infections , MicroRNAs , RNA, Circular , RNA, Messenger , Enterovirus A, Human , Enterovirus Infections/genetics , Gene Regulatory Networks , Humans , MicroRNAs/genetics , RNA, Circular/genetics , RNA, Messenger/genetics
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