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OBJECTIVE@#To delineate a deletional mutation of the HLA-B gene in a Chinese pedigree.@*METHODS@#A female patient with acute myeloid leukemia who had visited Liuzhou People's Hospital in April 2022 was selected as the study subject. Routine human leukocyte antigen (HLA) was determined by using PCR-sequence specific oligonucleotide polymorphism (PCR-SSOP) and PCR-sequence-based typing (PCR-SBT) methods. Next generation sequencing (NGS) was used to validate the candidate variant in the HLA-B gene.@*RESULTS@#The PCR-SBT and SSOP results for the HLA-B locus were inconsistent for the patient and her daughter. The SSOP results of the two individuals were HLA-B*35:01, 40:02 and HLA-B*35:01, 40:01, respectively. However, the PCR-SBT results has indicated a mismatch with the nearest HLA-B*35:01 at exon 4. NGS results showed that the HLA-B*35:01 had a 9 bp deletion in the intron 5. The patient's husband was HLA-B*40:01, 58:01, which was normal.@*CONCLUSION@#The variant in intron 5 of the HLA-B gene in this pedigree has mapped to a primer-binding region for the SBT reagent, which has affected the accuracy of PCR-SBT results.
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Humanos , Feminino , Alelos , Linhagem , Antígenos HLA/genética , Antígenos HLA-B/genética , China , Teste de Histocompatibilidade/métodos , Análise de Sequência de DNA/métodosRESUMO
Zinc deficiency during pregnancy is common and has been significantly associated with adverse pregnancy outcomes such as spontaneous preterm birth(PTB),recurrent abortion(RA),low birth weight(LBW),small-for-gestational-age infant(SGA),preeclampsia(PE),and gestational diabetes mellitus(GDM).Unfortunately,there is no specific biomarkers which are sensitive,easy-to-collect and detect available for the clini-cal evaluation of zinc nutritional status.However,recent studies have identified metallothionein and the ratio of oleic acid to dihydroxymethyl gamma-linolenic acid(LA/DGLA)as potentially candidates of biomarkers.This article focuses on summarizing and discussing the progress of domestic and international researches on zinc deficiency dur-ing pregnancy and adverse pregnancy outcomes,potential zinc biomarkers,and zinc deficiency treatments,aiming at providing ideas for perinatal nutritional guidance.
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Strontium(Sr)is a trace element naturally found in the human skeletal system.In recent years,the po-tential impact of strontium on bone and cardiovascular health has called significant attention,particularly during pregnancy,when alterations in mineral metabolism may affect the health of both the mother and the fetus.This com-prehensive review assesses the current understanding of the role of strontium as a nutritional substance during preg-nancy,its effects on maternal health and fetal development,and its potential associations with pregnancy complica-tions such as preeclampsia,gestational hypertension,and lactation-induced osteoporosis.The review also summarizes the possible effects of strontium deficiency,excess,and supplementation,and provides information for developing prenatal nutrition supplementation guideline.
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Objective To investigate the effects of comprehensive nutrition management on glycolipid metabolism and pregnancy outcomes in patients with gestational diabetes mellitus(GDM).Methods A total of 121 pregnant women with GDM at 24-28 weeks gestation who were registered in the obstetrics department of 6 sub-central hospi-tals in China from May 2021 to July 2021 were included in this study and were randomly divided into intervention group(n=74)and control group(n=47).The intervention group received intensive comprehensive nutrition man-agement,including at least 6 outpatient interventions,individualized nutrition management and a half-day standard-ized outpatient education on gestational diabetes mellitus,continuous dynamic blood glucose monitoring and micro-blood glucose monitoring,and routine check of glycated albumin and urine every 4 weeks.Body weight,body com-position and diet and exercise implementation procedures and fetal development as well as complications were recor-ded.The control group received conventional nutritional guidance.The two groups were compared for difference in blood glucose related indicators at 37 weeks of gestation,weight gain before delivery,some lipid metabolism indica-tors,pregnancy outcomes,and oral glucose tolerance test(OGTT)at 42 days postpartum.Results Compared with the control group,the level of prenatal fasting blood glucose(P=0.006),intravenous plasma glucose(P=0.009)and blood ketone(P = 0.044)in the intervention group was significantly reduced.There was no significant difference in weight gain and weight attainment rate between the two groups.The 2-hour postpartum OGTTs of preg-nant women in the intervention group(P=0.006)were significantly lower than those in the control group,and the incidence of preeclampsia and postpartum blood loss were lower than those in the control group but no statistical difference was found.For newborns,the incidence of macrosomia(P=0.042)and planation(P=0.048)in the in-tervention group was slightly lower than that in the control group,and the results were statistically different.Other adverse pregnancy outcomes were not statistically different between the two groups.Conclusions Intensive compre-hensive nutrition management has a positive impact on the control of the blood glucose in pregnant women and im-proves the maternal and neonatal outcomes of women with GDM.
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Objective To explore the application effect of the Mini-CEX evaluation model based on the OBE concept in the clinical Practice teaching of neurology.Methods We Selected 100 students who will Practice in the Department of Neurology from 2022 to 2023 as the research objects,and divided them into the experimental group(n=50)and the control group(n=50).Under the guidance of the OBE concept,the experimental group was guided by learning outcomes,refined the teaching objectives,and applied the Mini-CEX evaluation mode for evaluation and feedback.In contrast,the control group adopted the traditional teaching mode.Combined with the observation data,we analyzed and compared the data of various indicators of the two groups of students at the beginning and end of the internship.Results At the end of the internship,the scores of clinical consultation,Physical examination,humanistic medicine,clinical diagnosis,health consultation,organizational effect,and overall evaluation of the experimental group were significantly improved and were higher than those of the control group.After the Practice,in terms of skill test scores,the experimental group scored higher than the control group,the difference was statistically significant(P<0.05),and the experimental group also scored higher in satisfaction evaluation than the control group.Conclusion The Mini-CEX evaluation teaching model based on the concept of OBE is applied to the clinical practice teaching of the neurology department,which can enhance the training effect of students'clinical practice skills.
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Purpose To investigate the clinicopathological features,molecular genetics and prognosis of high grade B cell lymphoma with concurrent MYC rearrangement and 11q aberra-tions(HGBCL-MYC-11q).MethodsThree cases of HGBCL-MYC-11q were reviewed and analyzed using hematoxylin-eosin staining,immunohistochemistry,EBER in situ hybridization and fluorescence in situ hybridization.Clinical data were collected with follow-up.Results All three patients were male,age was 10,61,and 74 years,respectively.All patients had Ann Arbor stage Ⅳ disease.All three cases were biopsies occurring in the nasopharynx,upper pharynx and ileocecus,respectively.Three cases were morphologically similar to diffuse infiltrative growth of tumor cells,moderate or moderately large cells,round to slightly irregular nuclei and easily visible mitotic figures.Focal necrosis was noted in one case.One case exhibited the distinct"starry sky"pattern.All cases expressed CD20,BCL6 and MUM1 and high Ki67 index,two cases expressed CD10 and two cases ex-pressed BCL2.CD3,CD30 and TDT were all negative.EBER in situ hybridization was all negative.FISH analyses using C-MYC break-apart probes were all positive and all cases had 11q aberrations.One case only had the 11q23.3 amplification;and one case only had the 11q24.3 loss.After a follow-up for 1-18 months,one patient died and two patients survived with disease.ConclusionHGBCL-MYC-11q is rare,morphologically similar to BL/HGBCL,with MYC rearrangement and 11q abnormali-ties.We should enhance awareness of the disease and improve more accurate diagnosis and differential diagnosis of the disease.
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Objective To investigate the clinical efficacy and value of interventional treatment of iatrogenic massive vaginal bleed-ing.Methods Retrospective analysis was performed on 35 patients with postoperative vaginal massive hemorrhage in obstetrics and gynecology who were admitted.Abdominal aorta and bilateral internal iliac arteries angiography and embolization of abnormal vessels were performed under digital subtraction angiography(DS A),and relevant clinical data were recorded and analyzed.Results After interventional treatment,the vaginal bleeding of 33 patients basically stopped within 3 days,and the average interventional operation time was(57.5±17.2)min.The hemoglobin value,hematocrit and blood pressure decreased and the heart rate increased significantly before and after interventional embolization in obstetrics and gynecology,with statistical significance(P＜0.05).There were no sig-nificant changes in hemoglobin value and hematocrit between the completion of interventional embolization and 72 hours after interventional embolization(P＞0.05).The increase of blood pressure and the decrease of heart rate were statistically significant(P＜0.05).Two patients with cesarean section had poor hemostatic effect after interventional embolization,and the bleeding stopped after exploratory laparotomy and hysterectomy.Conclusion Interventional treatment has the advantages of small trauma,simple operation,signifi-cant curative effect,few adverse reactions,and rapid recovery.It plays an important role and clinical value in the diagnosis and treat-ment of iatrogenic vaginal bleeding.
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Objective:With the help of SWOT(S: internal strengths, W: internal weaknesses, O: external opportunities, T: external threats)analysis, to explore the internal and external conditions of internet-based cognitive behavioral therapy applied to improve the negative emotions of patients with coronary heart disease, and to propose development strategies.Methods:SWOT analysis was used to analyze and sort out the internal strengths and internal weaknesses, external opportunities and external threats of internet-based cognitive behavioral therapy in improving the negative emotions of patients with coronary heart disease.Results:The internal strengths of internet-based cognitive behavioral therapy in improving the negative emotions of patients with coronary heart disease were significant therapeutic effect, strong operability and high cost-effectiveness. The internal weaknesses included excessive dependence on patients′ treatment enthusiasm, and a lack of psychological training among nurses. The external opportunities included demand support, technical support, and theoretical support. The external threats were the lack of large-scale empirical research and the risk of patient personal information leakage.Conclusions:In the clinical application of internet-based cognitive behavioral therapy to improve the negative emotions of patients with coronary heart disease, both strengths and weaknesses coexist, and opportunities and threats coexist. Only by taking strengths of opportunities to overcome weaknesses, improve the autonomy and enthusiasm of patients in treatment, and increase the psychological training of medical staff, can internet-based cognitive behavioral therapy be further promoted in the clinical application of improving the negative emotions of patients with coronary heart disease.
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Objective:To investigate the nutritional risk, incidence of malnutrition, and intake of three major energy-supplying nutrients, analyze changes in their body composition and the possible influencing factors in patients with stomach neoplasms during perioperative period in order to provide a theoretical basis for the nutritional management of patients with stomach neoplasms during perioperative period.Methods:This was a cross-sectional study. A total of 105 patients who underwent gastric cancer radical surgery in the Gastrointestinal Department of Zhongshan Hospital Affiliated to Xiamen University from June 2021 to May 2023 were taken as the research subjects using fixed-point continuous sampling method. They were recruited for screening and assessment using Nutritional Risk Screening 2002 (NRS 2002) and Patient-Generated Subjective Global Assessment (PG-SGA). Nutrients intake during the perioperative period were investigated using the 24-h recall method and dietary diary method, etc. Body compositions were measured using the bioelectrical resistance method.Results:Among the 105 patients, there were 78 males and 27 females, with an average age of (61.5 ± 10.3) years. About 83.8% (88/105) gastric cancer patients were at nutritional risk and 82.9% (87/105) were malnourished. The preoperative and postoperative energy intake were (1 646.1 ± 321.5) and (1 317.2 ± 365.8) kcal (1 kcal=4.184 kJ), respectively, which were significantly lower than the target amount of (1 896.7 ± 262.9) kcal, the difference was statistically significant ( t=6.23, 8.29, both P<0.05).The preoperative body mass, muscle mass, skeletal muscle, fat mass, and skeletal muscle index were (51.5 ± 9.6), (40.8 ± 6.0), (23.6 ± 4.0), (8.3 ± 4.9) kg, and 6.7 ± 0.8 respectively, while the postoperative values were (50.0 ± 9.1), (39.8 ± 6.0), (22.8 ± 3.6), (7.8 ± 5.2) kg, and 6.5 ± 0.8 respectively, with statistically significant differences between the two groups ( t values were 2.89-10.61, all P<0.05). Logistic multivariate regression analysis showed that the operation time ( OR=3.984, 95% CI 1.433-11.080, P<0.05) and energy satisfaction ( OR=0.053, 95% CI 0.005-0.610, P<0.05) were independent influencing factors for the degree of skeletal muscle loss. Conclusions:During perioperative period, the gastric cancer patients had poor nutritional status with insufficient nutrient intake and accelerated loss of body muscle and fat. Therefore, it was necessary to conduct a comprehensive nutritional evaluation for patients with stomach neoplasms during perioperative period in time and take steps to promote recovery by providing individualized nutritional therapy.
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Surgical operation is the main treatment of oral and maxillofacial tumors.Dysphagia is a common postoperative complication.Swal-lowing disorder can not only lead to mis-aspiration,malnutrition,aspiration pneumonia and other serious consequences,but also may cause psychological problems and social communication barriers,affecting the quality of life of the patients.At present,there is no systematic evalua-tion and rehabilitation management plan for the problem of swallowing disorder after oral and maxillofacial tumor surgery in China.Combining the characteristics of postoperative swallowing disorder in patients with oral and maxillofacial tumors,summarizing the clinical experience of ex-perts in the field of tumor and rehabilitation,reviewing and summarizing relevant literature at home and abroad,and through joint discussion and modification,a group of national experts reached this consensus including the core contents of the screening of swallowing disorders,the phased assessment of prognosis and complications,and the implementation plan of comprehensive management such as nutrition management,respiratory management,swallowing function recovery,psychology and nursing during rehabilitation treatment,in order to improve the evalua-tion and rehabilitation of swallowing disorder after oral and maxillofacial tumor surgery in clinic.
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Cryoablation therapy with explicit anti-tumor mechanisms and histopathological manifestations has a long history.A large number of clinical practice has shown that cryoablation therapy is safe and effective,making it an ideal tumor treatment method in theory.Previously,its efficacy and clinical application were constrained by the limitations of refrigerants and refrigeration equipment.With the development of the new generation of cryoablation equipment represented by argon helium knives,significant progress has been made in refrigeration efficien-cy,ablation range,and precise temperature measurement,greatly promoting the progression of tumor cryoablation technology.This consensus systematically summarizes the mechanism of cryoablation technology,indications for oral mucosal melanoma(OMM)cryotherapy,clinical treatment process,adverse reactions and management,cryotherapy combination therapy,etc.,aiming to provide reference for carrying out the standardized cryoablation therapy of OMM.
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Objective:To explore the level of knowledge,belief,practice,and influencing factors of tolerance to enteral nutrition(EN)among nursing staff in intensive care units(ICU).Methods:A total of 70 nursing staff who worked in the ICU of our hospital from Jan 2022 to Dec 2022 were selected as the research subjects.The current level of nurses'knowledge,belief,and practice was evaluated using the"ICU Nurse EN Tolerance Knowledge,Belief,and Practice Scale"and a general information questionnaire was self-designed.Linear regression analysis was conducted to analyze the influencing factors of ICU nursing staff's knowledge,belief,and conduct of EN tolerance.Results:The score of ICU Nurse EN Tolerance Knowledge,Belief,and Practice Scale in 70 ICU nursing staff was(72.85±6.94).The scores for knowledge,attitude,and behavior dimensions were(10.69±2.11),(13.65±2.61),and(48.51±4.69),respectively.The results of linear regression analysis showed that working experience＜5 years,non-EN group members,and low self-efficacy were influencing factors(P＜0.05)on the knowledge,belief and practice of EN tolerance of ICU nursing staff.The equation was Y=65.162+5.077X1+ 6.551X2+10.218X3.Conclusion:The knowledge,belief and practice level of EN tolerance of ICU nursing staff may be affected by working years,self-efficacy,and whether they are members of EN study group.
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Objective The aim of this study was to screen and verify the proteins interacting with Vimentin,investigate the regulatory relationship between FABP5 and candidate proteins,and further explore the mechanism of FABP5 in hepatocellular carcinoma.Methods Immunoprecipitation combined with tandem mass spectrometry(IP-MS)was used to screen the proteins that bind to FABP5.The binding relationship between FABP5 and candi-date interacting proteins was verified from the exogenous and endogenous levels by Co-immune precipitation assay(Co-IP).RT-qPCR,Western blot and immunofluorescence were used to observe the effect of knockdown FABP5 on the transcription and translation of Vimentin in HCC cells.The effect of overexpressing FABP5 on the cytoskeleton of HCC cell was observed by phalloidin staining.Results 336 potential target proteins that bind to FABP5 were identi-fied through IP-MS.Based on literature,five candidate proteins related to tumors were selected,namely PRDX1,PRSS3,PKM,HSP90AA1,and Vimentin.The binding relationship between FABP5 and Vimentin protein was con-firmed through both exogenous and endogenous Co-IP.Knockdown FABP5 has no significant effect on the expression of Vimentin mRNA,but it can inhibit the expression of Vimentin protein,and overexpression of FABP5 can affect the cytoskeleton of HCC cell.Conclusions FABP5 promotes the migration and invasion of HCC cells by the regula-tion of Vimentin and the influence of cytoskeletal remodeling,and thus it is expected to be a potential target for anti-HCC and provide new ideas for the treatment of HCC.
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BACKGROUND:The second heart field is crucial for the development of the embryonic heart.Abnormal development of the second heart field can result in multiple cardiac malformations.After Cx43 gene knockout,reduced formation and proliferation of cells of the second heart field can be observed,but the specific reason remains unclear. OBJECTIVE:(1)To determine whether β-catenin,Smo and Cx43 were co-expressed in the second heart field and the endoderm,we observed the expression patterns of these proteins.(2)To explore whether Cx43 interacts with the Wnt/β-catenin pathway or the Shh pathway in the development of the second heart field. METHODS:Serial paraffin sections of the mouse embryos at embryonic days 10-12 were selected for immunohistochemical staining,hematoxylin-eosin staining and immunofluorescence staining.The primitive gut of mouse embryos at embryonic day 11 was separated for western blot assay and co-immunoprecipitation. RESULTS AND CONCLUSION:(1)Cx43 and Isl1 were co-expressed in some mesenchymal cells on the ventral side of the foregut and dorsal wall of the pericardial cavity of mouse embryos at embryonic days 10-12;Isl1 positive cells increased while Cx43 positive cells increased.(2)Cx43 and β-catenin were co-expressed in the ventral part of the endoderm at embryonic days 10-12.(3)Cx43 and Smo were co-expressed in the endoderm at embryonic days 10-12.(4)The co-immunoprecipitation results confirmed that there was an interaction between Cx43 and β-catenin,which suggested that Cx43 interacted with β-catenin to participate in the development of the second heart field.
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BACKGROUND:Olfactory dysfunction is an early biological marker of various diseases.However,the neuroimaging mechanism by which olfactory dysfunction occurs following cerebral small vessel disease is unclear. OBJECTIVE:To explore the different neuroimaging mechanisms of olfactory function regulation in patients with cerebral small vessel disease and Parkinson's disease,and explore the potential application value of olfactory function assessment in patients with cerebral small vessel disease. METHODS:Neuropsychological and olfactory tests,high-resolution structural magnetic resonance and resting-state functional magnetic resonance data were collected in 80 patients with cerebral small vessel disease,44 healthy controls and 29 patients with Parkinson's disease.DPABI,SPM12 and SPSS were used to analyze and compare the amplitude of low frequency fluctuation,regional homogeneity and functional connectivity values between the cerebral small vessel disease,control and Parkinson's disease groups.Correlations between the significantly altered resting-state functional magnetic resonance imaging measures and olfactory and cognitive scores were evaluated. RESULTS AND CONCLUSION:Compared with the control group,low-frequency fluctuation amplitude of the right dorsolateral superior frontal gyrus and the regional homogeneity of the left wedge leaf were significantly reduced in the cerebral small vessel disease and Parkinson's disease groups.The right dorsolateral superior frontal gyrus and the left cuneiform lobe are the seed points.Compared with the Parkinson's disease group,the functional connectivity values of the right anterior cunei,inferior temporal gyrus,anterior central gyrus and dorsolateral superior frontal gyrus,left posterior central gyrus and inferior temporal gyrus were significantly enhanced in the control and cerebral small vessel disease groups.The left cuneiform lobe was the seed point.Compared with the control group,the functional connectivity of the left lingual gyrus was significantly weakened in the cerebral small vessel disease and Parkinson's disease groups.The functional connectivity values of the left middle temporal gyrus and the right posterior central gyrus were enhanced in the control group compared with the cerebral small vessel disease and Parkinson's disease group,and that was enhanced in the cerebral small vessel disease group compared with the Parkinson's disease group.Correlation analysis showed that the olfactory score and cognitive score were positively correlated in the cerebral small vessel disease group,and the regional homogeneity of the left wedge lobe was negatively correlated with the Montreal Cognitive Assessment Scale score,while the functional connectivity of left wedge lobe-left middle temporal gyrus in the Parkinson's disease group was positively correlated with the olfactory recognition score,and the functional connectivity values of the left wedge lobe-left posterior central gyrus and left wedge lobe-left lingual gyrus were positively correlated with the olfactory identification score and the total olfactory score,respectively.The regulation of olfactory function in patients with cerebral small vessel disease has a different neuroimaging mechanism from that of olfactory dysfunction in patients with Parkinson's disease.The olfactory function of patients with cerebral small vessel disease is related to cognitive function.It is speculated that the olfactory function following cerebral small vessel disease is a secondary change of brain dysfunction,while olfactory dysfunction following Parkinson's disease is directly caused by abnormal function of olfactory-related brain areas.Olfactory function assessment in patients with cerebral small vessel disease has potential application in predicting cognitive function.
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Objective To construct,implement and evaluate the effectiveness of the virtual simulation technology-based prenatal health education course.Methods The curriculum included 4 parts:"warm delivery room and easy delivery","medicated analgesic delivery","non-medicated analgesic delivery"and"early maternal and infant health care".From May to September 2022,100 primiparas in an obstetrics and gynecology hospital in Zhejiang Province were investigated by convenient sampling method.Random number table method was used to divide the participants into an experimental group and a control group,with 50 participants per group.The control group received conventional health education,while the experimental group received an augmented virtual reality technology-based prenatal health education course during the late stages of pregnancy on this basis.We conducted a post-intervention comparative analysis of antenatal anxiety levels,fear of childbirth,and birth outcomes between the 2 groups.Furthermore,a post-intervention satisfaction survey was administered to the experimental group.Results After intervention,the antenatal anxiety of the experimental group was lower than that of the control group(x2=4.943,P=0.026),and the decrease in fear of childbirth scores was higher than that of the control group(t=3.200,P=0.002).The experimental group was highly satisfied with all of the 4 dimensions of the course,and the overall evaluation was(31.8±3.23)points.However,there were no significant differences in vaginal delivery rate,postpartum bleeding volume,postpartum hemorrhage incidence,perineal injury degree and duration of each labor stage between the 2 groups(P＞0.05).Conclusion The virtual reality technology-based prenatal health education course was effective in improving the antenatal anxiety and fear of childbirth of primipara,and the use satisfaction is high.
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Objective To understand the discharge readiness of fathers of preterm infants in the Neonatal Intensive Care Unit(NICU),analyze its influencing factors,and provide a basis for formulating individualized discharge health education plans and continuous care plans.Methods A convenience sampling method was employed to select fathers of preterm infants admitted to the NICU in a tertiary A hospital in Zhejiang Province from March 2022 to June 2022 as the subjects of the study.A general information questionnaire and the Discharge Readiness-Parent Version scale were used for the survey.Multiple linear regression analysis was applied to analyze the factors influencing the discharge readiness of fathers of NICU preterm infants.Results A total of 186 fathers of NICU preterm infants were included in the study.The total score of the Discharge Readiness-Parent Version scale was(179.97±28.20)points;the standardized score was(7.82±1.16)points;33.3％of the fathers of preterm infants had a standardized score of＜7 points.Multiple linear regression analysis results showed that the factors influencing the discharge readiness of fathers of NICU preterm infants included the gestational age at birth,birth weight,length of hospital stay,distance to access healthcare service,as well as the fathers'age,annual family income,and number of children in the family.Conclusion The discharge readiness of fathers of NICU preterm infants is at a moderate level.Nursing staff need to pay attention to the discharge readiness of fathers of preterm infants who have lower gestational age at birth,lower birth weight,longer hospital stays,longer distance to healthcare service,and who are younger,have lower annual family income,and are having their first child.Individualized discharge health education plans and continuous care plans should be formulated for them to improve their caregiving knowledge and skills.
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Objective:To study the clinical characteristics and management strategies of patients with chronic obstructive pulmonary disease (COPD) in high-altitude areas.Methods:An observational cross-sectional study was conducted in 79 stable COPD patients who visited the outpatient of Respiratory Medicine at Tibet Autonomous Region People′s Hospital and Peking University Third Hospital from August 3 rd 2020 to November 30 th 2020. Patients were divided into Lhasa group ( n=44) and Beijing group ( n=35). The differences of clinical characteristics including demographic characteristics, risk factors, respiratory symptoms, comorbidities, medications and spirometry were analyzed. Further comparative analysis was conducted on the clinical characteristics of smokers ( n=15) and non-smokers ( n=29) in Lhasa group. Results:The proportion of female patients and biofuel exposure in Lhasa group was significantly higher than Beijing group (56.8% vs 0, 86.4% vs 0, both P<0.001). The proportion of smokers in Lhasa group was significantly lower than Beijing group (34.1% vs 100%, P<0.001). The mean score of COPD assessment test (CAT) in Lhasa group was significantly higher than Beijing group (21.27 vs 9.17, P<0.001). The proportion of acute exacerbations ≥2 in the past year in Lhasa group was significantly higher than Beijing group (31.8% vs 11.4%, P=0.032). The median percentage of forced vital capacity in the first second of predicted value (FEV 1%pred) of patients in Lhasa group was significantly higher than Beijing group (63% vs 38%, P<0.001). The proportion of patients treated by inhaled corticosteroid/long-acting β 2-agonist (ICS/LABA) and inhaled long-acting muscarinic antagonists (LAMA) in Lhasa group was significantly lower than Beijing group (4.5% vs 60.0%, 0 vs 65.7%, both P<0.001). There were no significant differences in CAT score, number of acute exacerbations in the past year and lung function between smokers and non-smokers in Lhasa group. Conclusions:Compared with those patients in Beijing, the majority of patients with COPD living in Lhasa are female, with a low proportion of smokers and a high proportion of biofuel exposure. Although their lung function is better, their respiratory symptoms are more severe with more acute exacerbations in the past year, and most patients do not receive standardized medication.
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Objective:To explore the genetic etiology and clinical phenotype of Feingold syndrome due to chromosome 2p24.3p24.2 microdeletion.Methods:The clinical data of a child admitted to Henan Provincial People′s Hospital in November 2021 and diagnosed as Feingold syndrome type 1 (FGLDS1) associated with chromosome 2p24.3p24.2 microdeletion were collected. The clinical and genetic variation characteristics of the patient were summarized, and 10 patients with chromosome 2p microdeletion reported until November 2022 were reviewed.Results:The boy was 12 years and 5 months old. He presented with backward physical development, motor development retardation, low intelligence, special body and facial appearance, finger developmental deformity and other manifestations, accompanied by hyperactivity and aggressive behavior, impulsive irritability, self-injury and other behavior problems. The proband showed normal chromosome karyotype; the genome-wide copy number variant sequencing and trio-whole exome sequencing revealed a 2.61 Mb deletion at chromosome 2p24.3p24.2 region, and 10 genes including MYCN gene (exons 1 to 3) in the deleted region.The same deletion was not found in either of his parents. The genetic features of 11 cases (including this case) with chromosome 2p microdeletion were summarized, all of whom had insufficient haploid dosage of the MYCN gene due to chromosome 2p microdeletion, and the clinical manifestations of these 11 patients matched the clinical diagnosis of FGLDS1. Conclusion:The proband is consistent with the clinical presentation of the typical Feingold syndrome, and the haploinsufficiency of the MYCN gene due to the microdeletion of chromosome 2 is the genetic etiology of the proband.
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Objective:To explore the inhibitory mechanism of herb cake-partitioned moxibustion on tumor growth in colitis-associated colorectal cancer(CAC)based on histone lysine demethylase 4D(KDM4D). Methods:Inbred male Sprague-Dawley rats were randomly divided into a normal group,a CAC group,a herb cake-partitioned moxibustion group,and an inhibitor group.Except the normal group,rats in the other three groups were treated with azoxymethane(AOM)combined with dextran sulfate sodium(DSS)to make CAC rat models.Rats in the normal group and the CAC group did not receive interventions;rats in the herb cake-partitioned moxibustion group received moxibustion at Qihai(CV6)and bilateral Tianshu(ST25),2 cones for one point each time,once a day for 30 d with 1-day rest every week;rats in the inhibitor group received intraperitoneal injection of KDM4D inhibitor,5-chloro-8-hydroxyquinoline(5-c-8HQ),once a day for 30 d.After intervention,the general condition,colon length,tumor number and volume,and histopathological colon changes were observed.The expression of adenomatous polyposis coli(APC),axis inhibitor(Axin),cyclin D1,matrix metalloproteinase(MMP)-7 and MMP-9 mRNAs were detected by real-time quantitative polymerase chain reaction.The proliferating cell nuclear antigen(PCNA),cleaved caspase3,KDM4D,APC,and Axin proteins were detected by immunohistochemistry. Results:Compared with the normal group,the general condition was poor,the colon length was significantly shortened(P<0.01),the number and volume of colonic tumors were increased(P<0.01),the structure of glandular duct was obviously disordered with"back-to-back"and cowall phenomenon,and also high-grade adenocarcinoma formed;the protein expression levels of PCNA and KDM4D were significantly increased(P<0.01),while cleaved caspase3,APC,and Axin were significantly reduced(P<0.01);the mRNA expression levels of cyclin D1,MMP-7,and MMP-9 were significantly increased(P<0.01),while APC and Axin were significantly reduced(P<0.01)in the CAC group.Compared with the CAC group,the general condition was improved,the length of colon was significantly increased(P<0.01),the number and volume of the colonic tumors were reduced(P<0.05),and the colon tissues showed epithelial cell proliferation with enlarged and deep staining nuclei,dysplasia and inflammatory cell infiltration;the protein expression levels of PCNA and KDM4D were significantly reduced(P<0.01),while the cleaved caspase3,APC,and Axin were significantly increased(P<0.01);the mRNA expression levels of cyclin D1,MMP-7,and MMP-9 were reduced(P<0.05),while the APC and Axin were increased(P<0.05)in the colon tissues of rats in the herb cake-partitioned moxibustion group and the inhibitor group. Conclusion:Herb cake-partitioned moxibustion regulated abnormally expressed KDM4D in CAC rats,activated APC and Axin,the upstream molecules of Wnt/β-catenin pathway,inhibited abnormally activated downstream molecules of Wnt/β-catenin pathway.This may be a key mechanism of herb cake-partitioned moxibustion in inhibiting CAC tumor growth.