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1.
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery ; (12): 223-228, 2024.
Article in Chinese | WPRIM | ID: wpr-1013497

ABSTRACT

@#Objective To elucidate the correlation between radiological tumor size (RTS) and pathological tumor size (PTS), and to evaluate the accuracy of clinical T staging. Methods Data on patients who underwent complete resection between September 2018 and June 2019 were retrospectively collected. The correlation between RTS and PTS was analyzed by and we assessed the agreement between clinical and pathologic T staging. Results Finally, 1 880 patients were included. There were 778 males and 1 102 females at average age of 57±11 years. In the entire cohort, the RTS and PTS was 19.1±13.5 mm and 17.7±14.0 mm, respectively (P<0.001). The RTS and PTS showed a strong linear correlation with the Pearson’s correlation coefficient calculated as 0.897. The mean RTS was significantly larger than PTS (P<0.001) in tumors≤3 cm, but significantly smaller in tumors>4 cm. The overall concordance rate between clinical and pathological T staging was 65.6%. Clinical staging failed to detect T4 disease in 29.4% (5/17) of patients. Male patients and the presence of cavities within nodules were independent significant factors leading to inaccurate clinical T staging. Conclusions The correlation between the tumor sizes measured on thin-section computed tomography and pathologic specimens varies with the real tumor size. Methods and techniques for improving clinical T staging accuracy is in urgent need.

2.
Chinese Journal of Cardiology ; (12): 521-525, 2023.
Article in Chinese | WPRIM | ID: wpr-984684

ABSTRACT

Objectives: This study sought to describe our institutional experience of repeated percutaneous stellate ganglion blockade (R-SGB) as a treatment option for drug-refractory electrical storm in patients with nonischemic cardiomyopathy (NICM). Methods: This prospective observational study included 8 consecutive NICM patients who had drug-refractory electrical storm and underwent R-SGB between June 1, 2021 and January 31, 2022. Lidocaine (5 ml, 1%) was injected in the vicinity of the left stellate ganglion under the guidance of ultrasound, once per day for 7 days. Data including clinical characteristics, immediate and long-term outcomes, and procedure related complications were collected. Results: The mean age was (51.5±13.6) years. All patients were male. 5 patients were diagnosed as dilated cardiomyopathy, 2 patients as arrhythmogenic right ventricular cardiomyopathy and 1 patient as hypertrophic cardiomyopathy. The left ventricular ejection fraction was 37.8%±6.6%. After the treatment of R-SGB, 6 (75%) patients were free of electrical storm. 24 hours Holter monitoring showed significant reduction in ventricular tachycardia (VT) episodes from 43.0 (13.3, 276.3) to 1.0 (0.3, 34.0) on the first day following R-SGB (P<0.05) and 0.5 (0.0, 19.3) after whole R-SGB process (P<0.05). There were no procedure-related major complications. The mean follow-up was (4.8±1.1) months, and the median time of recurrent VT was 2 months. Conclusion: Minimally invasive R-SGB is a safe and effective method to treat electrical storm in patients with NICM.


Subject(s)
Humans , Male , Adult , Middle Aged , Aged , Female , Stroke Volume , Stellate Ganglion/surgery , Ventricular Function, Left , Cardiomyopathies/complications , Tachycardia, Ventricular/therapy , Treatment Outcome , Catheter Ablation
3.
Journal of Zhejiang University. Medical sciences ; (6): 627-635, 2023.
Article in English | WPRIM | ID: wpr-1009923

ABSTRACT

OBJECTIVES@#To explore the mechanism of Chinese medicine Jiangzhuo mixture regulating glucose and lipid metabolism in obese rats.@*METHODS@#Thirty healthy male SD rats were randomly divided into normal control group, model control group, and Jiangzhuo mixture treatment group, with 10 rats in each group. The rats in the normal control group were fed with normal diet, the obesity model was induced by feeding high-fat diet in the model control group and the Jiangzhuo mixture treatment group, the rats in the treatment group were given with Jiangzhuo mixture 50 g/kg by gavage. After 8 weeks of intervention, the blood glucose (GLU), total cholesterol (TC), triglyceride (TG), low-density lipoprotein cholesterol (LDL-C) and high-density lipoprotein cholesterol (HDL-C) levels were measured in the three groups. Quantitative reverse transcription PCR were used to detect the expression levels of PR domain containing 16 (PRDM16) and uncoupling protein 1 (UCP1) in white and brown adipose tissues of the rats in each group; Western blotting was used to detect the expression of PRDM16 in the white and brown adipose tissue of rats, and Toll-like receptor 4 (TLR4), nuclear factor-κB (NF-κB) and inhibitor of NF-κB alpha (IκBα) in the white adipose tissue; immunohistochemistry was used to detect the expression of UCP1 protein in white and brown adipose tissues.@*RESULTS@#Compared with the normal control group, the white fat weight (P<0.01), white fat coefficient (P<0.05) and Lee's coefficient (P<0.01) were significantly increased in the model control group; the contents of GLU, TC, TG and LDL-C were all increased, and the content of TG was significantly increased (P<0.05) in the model control group. The mRNA and protein expression levels of PRDM16 and UCP1 in white fat and brown fat were significantly decreased (P<0.05) in the model control group. Compared with the model control group, the white fat weight and white fat coefficient and Lee's coefficient were significantly reduced in the Jiangzhuo mixture treatment group (all P<0.01), the levels of GLU, TC, TG, and LDL-C in the the treatment group were all reduced, and the content of TG was reduced more obviously (P<0.01); expression levels of PRDM16 and UCP1 mRNA and protein were increased in brown and white adipose tissue. Compared with the normal control group, the expression levels of TLR4, phospho-IκBα and NF-κB-p65 proteins in white adipose tissue of the model control group were significantly increased (all P<0.01), while the expression levels of these proteins in the treatment group were significantly lower than those in the model control group (all P<0.05).@*CONCLUSIONS@#Jiangzhuo mixture can alleviate high-fat diet-induced increase in body fat, abnormal expression of biochemical indexes and promote the expression of key proteins including UCP1 and PRDM16 in white and brown adipose tissues by regulating TLR4/IκBα/NF-κB signaling pathway.


Subject(s)
Rats , Male , Animals , NF-kappa B/metabolism , Rats, Sprague-Dawley , Glucose , Lipid Metabolism , Toll-Like Receptor 4 , Cholesterol, LDL/metabolism , NF-KappaB Inhibitor alpha/metabolism , Medicine, Chinese Traditional , Signal Transduction , Triglycerides , Transcription Factors/metabolism , Obesity , RNA, Messenger
4.
China Journal of Orthopaedics and Traumatology ; (12): 686-691, 2023.
Article in Chinese | WPRIM | ID: wpr-981756

ABSTRACT

OBJECTIVE@#To evaluate the effects of electromyography on the clinical manifestations and prognosis after posterior lumbar interbody fusion(PLIF) of degenerative lumbar diseases.@*METHODS@#A retrospective analysis was performed on 68 patients with degenerative lumbar diseases, including 29 males and 39 females, aged 21 to 84 years old, who underwent electromyogram (EMG) from January 2018 to October 2019. The patients were divided into negative and positive groups according to whether theresults of EMG was normal or abnormal, PLIF surgery was performed in both groups. The preoperative duration of illness, postoperative recovery time, operative time, intraoperative blood loss, postoperative ambulation time and length of postoperative hospital stay were recorded. The clinical efficacy was evaluated by visual analogue scale(VAS) of low back and lower limb, the Japanese Orthopedic Association(JOA) score before and after operation.@*RESULTS@#All patients were follow-up from 26 to 39 months. The subjective symptoms, clinical signs, daily activities and JOA total scores after operation in two groups were significantly higher than those before preoperation(P<0.05);the clinical signs score and total JOA score in the negative group at 3 months after operation were higher than those in the positive group(P<0.05). The VAS score of leg pain in the negative group after 1 and 3 months was less than that in the positive group(P<0.05). Patients 's illness time, postoperative recovery time, hospitalization time and implantation time in the negative group were shorter than those in the positive group(P<0.05). At other time points, there was no significant difference in low pain VAS, leg pain VAS, JOA scores in the two groups(P>0.05). There was no significant difference in the operation time and intraoperative bleeding volume between the two groups(P>0.05).@*CONCLUSION@#Patients with normal electromyography had shorter disease duration than ones with abnormal electromyography in lumbar degenerative disease;after PLIF, patients with normal electromyography recovered faster than ones with abnormal electromyography, but the results of electromyography had no effect on the final prognosis of PLIF surgery.


Subject(s)
Male , Female , Humans , Young Adult , Adult , Middle Aged , Aged , Aged, 80 and over , Retrospective Studies , Spinal Fusion/methods , Lumbar Vertebrae/surgery , Treatment Outcome , Pain
5.
Acta Pharmaceutica Sinica B ; (6): 2710-2730, 2022.
Article in English | WPRIM | ID: wpr-939936

ABSTRACT

Breast cancer has become the most commonly diagnosed cancer type in the world. A combination of chemotherapy and photothermal therapy (PTT) has emerged as a promising strategy for breast cancer therapy. However, the intricacy of precise delivery and the ability to initiate drug release in specific tumor sites remains a challenging puzzle. Therefore, to ensure that the therapeutic agents are synchronously delivered to the tumor site for their synergistic effect, a multifunctional nanoparticle system (PCRHNs) is developed, which is grafted onto the prussian blue nanoparticles (PB NPs) by reduction-responsive camptothecin (CPT) prodrug copolymer, and then modified with tumor-targeting peptide cyclo(Asp-d-Phe-Lys-Arg-Gly) (cRGD) and hyaluronic acid (HA). PCRHNs exhibited nano-sized structure with good monodispersity, high load efficiency of CPT, triggered CPT release in response to reduction environment, and excellent photothermal conversion under laser irradiation. Furthermore, PCRHNs can act as a photoacoustic imaging contrast agent-guided PTT. In vivo studies indicate that PCRHNs exhibited excellent biocompatibility, prolonged blood circulation, enhanced tumor accumulation, allow tumor-specific chemo-photothermal therapy to achieve synergistic antitumor effects with reduced systemic toxicity. Moreover, hyperthermia-induced upregulation of heat shock protein 70 in the tumor cells could be inhibited by CPT. Collectively, PCRHNs may be a promising therapeutic way for breast cancer therapy.

6.
Acta Physiologica Sinica ; (6): 479-488, 2022.
Article in Chinese | WPRIM | ID: wpr-939582

ABSTRACT

Cell aging is an extremely complex process, which is characterized by mitochondrial structural dysfunction, telomere shortening, inflammatory microenvironment, protein homeostasis imbalance, epigenetic changes, abnormal DNA damage and repair, etc. Aging is usually accompanied by structural and functional damage of tissues and organs which further induces the occurrence and development of aging-related diseases. Aging includes physiological aging caused by increased age and pathological aging induced by a variety of factors. Noteworthy, as a target organ directly contacting with the outside air, lung is more prone to various stimuli, causing pathological premature aging which is lung aging. Studies have found that there is a certain proportion of senescent cells in the lungs of most chronic respiratory diseases. However, the underlying mechanism by which these senescent cells induce lung senescence and their role in chronic respiratory diseases is still obscure. This paper focuses on the causes and classification of lung aging, the internal mechanism of lung aging involved in chronic respiratory diseases, and the application of anti-aging treatments in chronic respiratory diseases. We hope to provide new research ideas and theoretical basis for the clinical prevention and treatment in chronic respiratory diseases.


Subject(s)
Humans , Aging/pathology , Cellular Senescence , Lung/pathology , Lung Diseases/pathology , Respiration Disorders/pathology , Telomere , Telomere Shortening
7.
China Pharmacy ; (12): 413-418, 2022.
Article in Chinese | WPRIM | ID: wpr-920456

ABSTRACT

OBJECTIVE To prepare Leonurine hydrochloride tablets and evaluate the quality. METHODS The wet granulation technology was adopted ;leonurine hydrochloride was used as the crude drug ,and the types of fillers ,disintegrants,binders and lubricants were screened by single-factor experiments. Combined with orthogonal experiments ,using the cumulative dissolution rate within 15 minutes(using water as dissolution media )as index ,the proportion of disintegrants ,the mass fraction of binder solution,and the proportion of lubricants were screened and verified. The in vitro dissolution behavior of the prepared Leonurine hydrochloride tablets (dissolution media were hydrochloric acid solution of pH 1.2,acetic acid-sodium acetate solution of pH 4.5, phosphate buffer solution of pH 6.8,water),tablet appearance ,hardness,friability and content uniformity were tested according to the general principles in 2020 edition of Chinese Pharmacopoeia (part Ⅳ). RESULTS The optimal formulation of Leonurine hydrochloride tablets included leonurine hydrochloride crude drug of 500 mg,dextrin of 9 250 mg,crosslinking polyving y- pyrrolidone of 200 mg,magnesium stearate of 50 mg,1% hydroxypropyl methyl cellulose solution of 4 mL. The average 15-minute cumulative dissolution rate of the three batches of tablets was 81.25%(RSD=1.12%,n=3). In above 4 dissolution media,the dissolution equilibrium of prepared tablets could be reached within 30 minutes,and the cumulative dissolution rates exceeded 85%. The prepared tablets had uniform beige in color ,smooth surface ,complete edge ,no mottle ,spot,foreign matter , etc.,hardness of 57.3 N(n=6),weight loss rate of 0.15%. The content uniformity was in accordance with relevant provisions in 2020 edition of Chinese Pharmacopoeia (part Ⅳ). CONCLUSIONS Leonurine hydrochloride tablets are successfully prepared , and the quality comply with relevant regulations.

8.
West China Journal of Stomatology ; (6): 320-327, 2021.
Article in English | WPRIM | ID: wpr-878450

ABSTRACT

OBJECTIVES@#This study aims to investigate the effect of the regulator of G-protein signaling 2 (RGS2) on the proliferation and invasion of oral squamous cell carcinoma (OSCC) cells and its potential molecular mechanism. Metho⁃ds The expression status and clinical significance of RGS2 in head and neck squamous cell carcinomas and matched adjacent normal tissues were evaluated using TCGA database. Three OSCC cell lines (i.e., SCC-9, Cal27, and Fadu) were overexpressed with RGS2, and the effect of RGS2 on cell proliferation and invasion was determined using the Transwell, clone formation, and cell counting kit (CCK)-8 assays. Moreover, the yeast two-hybrid scree-ning and co-immunoprecipitation (Co-IP) assays were conducted to detect the correlation of RGS2, four and a half LIM domains protein 1 (FHL1), and damage DNA-binding protein 1 (DDB1).@*RESULTS@#The expression level of RGS2 in OSCC was significantly lower than that in matched adjacent normal tissues (@*CONCLUSIONS@#RGS2 plays an important role in the inhibition of OSCC proliferation and invasion. The structure stability of RGS2 is competitively regulated by FHL1 and DDB1.


Subject(s)
Humans , Carcinoma, Squamous Cell , Cell Line, Tumor , Cell Movement , Cell Proliferation , GTP-Binding Proteins , Head and Neck Neoplasms , Intracellular Signaling Peptides and Proteins , LIM Domain Proteins , Mouth Neoplasms , Muscle Proteins , Squamous Cell Carcinoma of Head and Neck
9.
Chinese Journal of Medical Genetics ; (6): 454-457, 2021.
Article in Chinese | WPRIM | ID: wpr-879601

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with non-syndromic hearing loss (NSHL).@*METHODS@#Commercialized gene chip was applied to detect common mutations associated with congenital deafness. Whole exome sequencing was carried out for patients for whom gene chip yielded a negative result. Candidate variants were verified by Sanger sequencing.@*RESULTS@#Two patients from the pedigree were discovered to carry compound heterozygous variants of the TRIOBP gene, namely c.3299C>A and c.5185-2A>G. Their parents had normal hearing and were both heterozygous carriers of the above variants. Both variants had co-segregated with the disease phenotype in the pedigree and were unreported previously.@*CONCLUSION@#Pathogenic variants of the TRIOBP gene comprise an important factor for NSHL. The novel c.5185-2A>G and c.3299C>A variants discovered in this study have enriched the mutational spectrum of the TRIOBP gene and enabled molecular diagnosis and genetic counseling for the family.


Subject(s)
Humans , Deafness/genetics , Hearing Loss, Sensorineural/genetics , Heterozygote , Microfilament Proteins/genetics , Mutation , Pedigree , Exome Sequencing
10.
Cancer Research and Treatment ; : 148-161, 2021.
Article in English | WPRIM | ID: wpr-874361

ABSTRACT

Purpose@#Gastric cancer (GC) has substantial biological differences between Asian and non-Asian populations, which makes it difficult to have a unified predictive measure for all people. We aimed to identify novel prognostic biomarkers to help predict the prognosis of Asian GC patients. @*Materials and Methods@#We investigated the differential gene expression between GC and normal tissues of GSE66229. Univariate, multivariate and Lasso Cox regression analyses were conducted to establish a four-gene-related prognostic model based on the risk score. The risk score was based on a linear combination of the expression levels of individual genes multiplied by their multivariate Cox regression coefficients. Validation of the prognostic model was conducted using The Cancer Genome Atlas (TCGA) database. A nomogram containing clinical characteristics and the prognostic model was established to predict the prognosis of Asian GC patients. @*Results@#Four genes (RBPMS2, RGN, PLEKHS1, and CT83) were selected to establish the prognostic model, and it was validated in the TCGA Asian cohort. Receiver operating characteristic analysis confirmed the sensitivity and specificity of the prognostic model. Based on the prognostic model, a nomogram containing clinical characteristics and the prognostic model was established, and Harrell’s concordance index of the nomogram for evaluating the overall survival significantly higher than the model only focuses on the pathologic stage (0.74 vs. 0.64, p < 0.001). @*Conclusion@#The four-gene-related prognostic model and the nomogram based on it are reliable tools for predicting the overall survival of Asian GC patients.

11.
Chinese Journal of Laboratory Medicine ; (12): 1190-1194, 2021.
Article in Chinese | WPRIM | ID: wpr-912538

ABSTRACT

Objective:To investigate the clinical value of eosinophil count in predicting the progression and prognosis of COVID-19.Methods:In this retrospective cohort study, 115 patients confirmed COVID-19 were enrolled in Taizhou Public Health Medical Center, Taizhou Hospital, Zhejiang Province, China, from January 22, 2020 to February 12, 2020. The subjects were divided into non-severe ( n=90) and severe ( n=25) groups, of which medium age was 46 years old, including 65 male and 50 female subjects. The value of eosinophil count in reflecting the severity of COVID-19 was tested with a receiver operating characteristic curve (ROC) analysis; Correlation analysis of eosinophil count at the admission with length of stay (LOS) were studied. GraphPad Prism6 and SPSS 19.0 statistical software were applied to data analysis. Differences among groups were analyzed with the Mann-Whitney U test. Results admission, Eosinophil counts of severe patients were significantly lower than those of non-severe ( P<0.001). The eosinophil count remained below normal for 1-7 days after admission and rose to normal by 21 to 28 days; The area under the ROC curve (AUC) of eosinophil to COVID-19 severity was 0.781(95% CI:0.693-0.869); The Eosinophil count at admission was negatively correlated with the patient's length of stay. Conclusions:The decrease of Eosinophil count can serve as a risk factor for auxiliary diagnosis in severe COVID-19 patients. The dynamic monitoring of eosinophils is useful for prognostic purposes.

12.
Chinese Journal of Endocrine Surgery ; (6): 677-680, 2021.
Article in Chinese | WPRIM | ID: wpr-930285

ABSTRACT

Hyperglycemia and hyperosmolar state (HHS) is an acute complication of diabetes with a higher mortality rate. Venous thromboembolism (VTE) includes deep vein thrombosis (DVT) and pulmonary thromboembolism (PTE) , among which fatal PTE is one of the main causes of sudden death in hospitalized patients. There are relatively few clinical reports about the simultaneous occurrence of HHS and VTE. This article introduces the successful treatment of an elderly patient with HHS combined with VTE and gastrointestinal bleeding to improve clinicians’ understanding of the disease.

13.
Chinese Journal of Experimental Traditional Medical Formulae ; (24): 43-52, 2020.
Article in Chinese | WPRIM | ID: wpr-873120

ABSTRACT

Non-alcoholic fatty liver disease (NAFLD) is a kind of metabolic stress liver injury, which has become one of most common chronic liver diseases in China and even world. Therefore, the occurrence and development of NAFLD and its prevention and treatment have been attracted more and more attention. The disturbance of intestinal microecology, especially intestinal flora, is one of important factors leading to NAFLD. The syndrome traceability, etiology and pathogenesis of nafld in traditional Chinese medicine (TCM) are related to imbalance of spleen-stomach's ascending and descending. The effect of NAFLD treatment depends on spleen-stomach's ascending and descending. The intestinal tract is main part for realizing spleen-stomach function according to principle of TCM. Intestinal flora is a regulation factor affecting host metabolism, which is consistent with biological connotation of TCM principle of spleen-stomach's ascending and descending. Because spleen-stomach's ascending and descending disorder is consistent with symptoms of intestinal flora imbalance, intestinal flora is closely related to spleen-stomach's ascending and descending in TCM. Based on modern intestinal micro-ecosystem, this paper expounds theoretical basis for treatment of NAFLD based on relationship between spleen-stomach's ascending and descending in TCM, and on that basis, ideas of prescription and medication for NAFLD were put forward, mainly including: invigorating spleen and replenishing Qi and ascending clearity, regulating Qi-flowing and regulating stomach and descending turbidity, resolving phlegm, activating blood circulation and dissipating accumulation, and dominant role in coordinating spleen-stomach's ascending and descending and intestinal microecology is highlighted in treatment of NAFLD. Soothing liver and regulating Qi, dispersing and descending lung-Qi, ascending clearity and descending turbidity, and warming and activating kidney-Yang, synergistic factors for onset of NAFLD were taken into account to promote spleen-stomach's ascending and descending functions, and therapeutic effect shall be considered from perspective of intestinal microecology. After retention enema with Chinese herbs, transporting function of large intestine might be activated to help stomach-Qi descending and coordinate spleen-stomach's ascending and descending, and intestinal microecological mechanism of drug delivery channel intervening NAFLD may be studied based on 16s rDNA gene pathway. With deepening of research on intestinal flora, relationship between it and spleen-stomach's ascending and descending and NAFLD will be further revealed, which not only inherits China's long history of applying spleen-stomach's ascending and descending to treat liver diseases, but also expand perspective of regulating intestinal microecolog(intestinal flora) in treatment of NAFLD.

14.
Chinese Journal of Experimental Traditional Medical Formulae ; (24): 31-36, 2020.
Article in Chinese | WPRIM | ID: wpr-873118

ABSTRACT

Objective::To explore the clinical efficacy of modified Sanzi Yangqintang combined with colon hydrotherapy in the treatment of non-alcoholic fatty liver disease (NAFLD) with phlegm-dampness. Method::Totally 100 patients with NAFLD were selected and randomly divided into treatment group (50 cases) and control group (50 cases). Both groups were orally given silybin and glycyrrhizic acid diamine capsules.The treatment group was also added with modified Sanzi Yangqintang and colon hydrotherapy.The treatment lasted for 7 days.The control group was also added with saline colon hydrotherapy.Main traditional Chinese medicine (TCM) syndrome scores and liver function indexes before and after treatment [alanine aminotransferase (ALT), aspartate aminotransferase (AST), γ-glutamate transpeptidase (GGT)], blood lipid routine [cholesterol (TCH), triglyceride (TG)], inflammatory factors [interleukin-6 (IL-6), tumor necrosis factor-α (TNF-α)], FibroScan measurement [liver stiffness measurement (LSM), controlled attenuation parameters (CAP)], uric acid and body weight changes were observed.Adverse reactions were observed, and the patient's medication safety was evaluated. Result::TCM syndrome score, liver enzyme index, blood lipid index, inflammatory factor index, FibroScan CAP, uric acid and body weight of the two groups were significantly reduced than those before treatment(P<0.05, P<0.01) .There was no significant difference in liver enzymes, TCH, IL-6 and LSM between treatment group and control group.And TCM syndrome scores, UA, TNF-α, FibroScan CAP decreased were significantly different from control group (P<0.05). Conclusion::Modified Sanzi Yangqintang combined with colon hydrotherapy can not only alleviate NAFLD with phlegm-dampness symptoms, but also significantly reduce triglyceride, tumor necrosis factor and FibroScan CAP and body mass, with certain clinical efficacy in a short term.

15.
Chinese Journal of Medical Genetics ; (6): 467-470, 2020.
Article in Chinese | WPRIM | ID: wpr-826553

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with split hand/foot malformation (SHFM).@*METHODS@#Genomic DNA of the proband and other affected members was extracted from peripheral blood samples. Chromosomal microarray analysis was employed to detect genome-wide copy number variations (CNVs).@*RESULTS@#A 400 kb microduplication was identified in the 10q24.31-q24.32 region among all affected individuals. The microduplication has involved four genes, namely LBX1, BTRC, POLL and DPCD, in addition with part of FBXW4 gene.@*CONCLUSION@#The 10q24.31-q24.32 microduplication has segregated with the disease phenotype in this pedigree and probably underlay the SHFM malformation in the patients.


Subject(s)
Humans , Asian People , Chromosome Duplication , Chromosomes, Human, Pair 10 , Genetics , DNA Copy Number Variations , Foot Deformities, Congenital , Genetics , Genetic Testing , Hand Deformities, Congenital , Genetics , Limb Deformities, Congenital , Genetics , Pedigree
16.
Chinese Journal of Contemporary Pediatrics ; (12): 953-957, 2020.
Article in Chinese | WPRIM | ID: wpr-828639

ABSTRACT

OBJECTIVE@#To study the clinical effect of recombinant human interferon α1b assisting acyclovir on immune function, inflammatory factors, and myocardial zymogram in children with infectious mononucleosis (IM).@*METHODS@#A total of 182 children with IM who were admitted to the hospital from January to December, 2018, were divided into an observation group with 91 children and a control group with 91 children using a random number table. The children in the control group were treated with intravenous drip of acyclovir, and those in the observation group were treated with inhalation of recombinant human interferon α1b in addition to the treatment in the control group. The two groups were compared in terms of clinical symptoms, immune function, inflammatory response, myocardial zymogram, and adverse reactions.@*RESULTS@#Compared with the control group, the observation group had significantly shorter time to body temperature recovery and disappearance of isthmopyra, cervical lymph node enlargement, hepatomegaly, and splenomegaly (P0.05).@*CONCLUSIONS@#For children with IM, recombinant human interferon α1b assisting acyclovir can effectively improve immune function, inhibit inflammatory reaction, reduce myocardial injury, and thus alleviate clinical symptoms.


Subject(s)
Humans , Antigens, CD19 , Hepatomegaly , Infectious Mononucleosis , Prospective Studies , Splenomegaly
17.
Chinese Journal of Applied Clinical Pediatrics ; (24): 1685-1689, 2019.
Article in Chinese | WPRIM | ID: wpr-823699

ABSTRACT

The clinical manifestations of Streptococcus pneumoniae disease (SPD) are various,and some patients with rare SPD types have a worse prognosis.Among them,the mortality is up to 70% after 48-72 hours of the onset of Streptococcus pneumoniae (SP)-related overwhelming post-splenectomy infection (OPSI).Purpura fulminans of SP (SP-PF) is often characterized by extensive purpura,fever,hypotension and disseminated intravascular coagulation,and prognosis of the patients without prodromal symptoms is poor.Infectious endocarditis has a mortality rate of 20.7 % in SP-related cardiovascular diseases,and Austrian syndrome has a fatality rate of 43.5 %.The mortality rate of bacterial pericarditis was 13.56%.At present,SP vaccine can not completely cover the 7 serotypes reported.Vasculitis mainly occurs in the thoracic and abdominal aorta and its branches,middle cerebral artery and so on.Of the 8 cases of hemophagocytic syndrome,2 cases died.Early anti-infection,methylprednisolone shock and surgical treatment can improve the prognosis.Vaccination and drug prophylaxis can help those with under-lying diseases such as splenic dysfunction to reduce the incidence of SPD,such as SP-OPSI.

18.
Journal of Practical Radiology ; (12): 1119-1123, 2019.
Article in Chinese | WPRIM | ID: wpr-752505

ABSTRACT

Objective ToexploretheclinicalmanifestationsandMRIfeaturesofnervoussystemdiseasecomplicationsinpediatric EV71relatedhand-foot-mouthdisease(HFMD).Methods Theclinicaldataof17EV71relatedHFMDpatientswithnervoussystemdisease wereanalyzedretrospectively.Results 4patientswerediagnosedwith meningitisandthebrain MRIshowedasymmetricunilateral ventricularenlargement.9patientswerediagnosedwithbrainstemencephalitis,amongwhich8patientsshowedthecraniocerebral MRIfeaturesthatthelesionswerelocatedonthedorsalsideofthepontomedullaryjunction,andtheT2imageshowedahighsignal withasymmetrycharacteristic.1caseofbrain MRIdisplayedthatthelesionwaslocatedinthemidbrain,andT2imagewasahigh signalwithsymmetricalfeatures.4patientswerediagnosed withacuteflaccidparalysis.1casehadbrainstem encephalitis,andthe brain MRIshowedthatthelesion waslocatedonthedorsalsideofthepontomedullaryjunction,andthe MRIofthespinalcord showedthelesionintheC1-C7segment.1caseofspinalcordMRIshowedthatthelesionwaslocatedatT2-L1segment,1caseof spinalMRIshowedthelesionlocatedinT8-T12segment;1caseofspinalcord MRIshowedthatthelesionwaslocatedatT9-L1 segment,andsagittalT2 wasahighsignal,andthelesionconcentratedintheanteriorhornofthespinalcordand (or)theanterior rootofthespinalnerve.Byfollow-up,patientswithmeningitishadagoodprognosisandwithoutneurologicalsequelae.Thelesionsof brainstemencephalitiswerebasicallyabsorbedanddisappeared,theprognosiswasgood.Fortheacuteparalysis,theaffectedlimbs recoveredtovaryingdegrees,andthelesionswereabsorbedpartially.Conclusion HFMDpatientsclinicalmanifestationsand MRI characteristicsofconcurrentnervoussystemdiseasewerediversity.Whenthenervoussystemsymptomshappened,weshouldactively performtheMRIexaminationtoidentifytheinflammatoryinvasionarea.Onceinvolvingthebrainstemandspinalcord,highalert, earlyrecognitionandtimelyinterventionarekeytoreducethemorbidityandmortalityofacuteHFMD,toenableHFMDtobeoptimizedand comprehensivelytreated.

19.
Chinese Journal of Applied Clinical Pediatrics ; (24): 1685-1689, 2019.
Article in Chinese | WPRIM | ID: wpr-803235

ABSTRACT

The clinical manifestations of Streptococcus pneumoniae disease(SPD) are various, and some patients with rare SPD types have a worse prognosis.Among them, the mortality is up to 70% after 48-72 hours of the onset of Streptococcus pneumoniae (SP)-related overwhelming post-splenectomy infection(OPSI). Purpura fulminans of SP(SP-PF) is often characterized by extensive purpura, fever, hypotension and disseminated intravascular coagulation, and prognosis of the patients without prodromal symptoms is poor.Infectious endocarditis has a mortality rate of 20.7% in SP-related cardiovascular diseases, and Austrian syndrome has a fatality rate of 43.5%.The mortality rate of bacterial pericarditis was 13.56%.At present, SP vaccine can not completely cover the 7 serotypes reported.Vasculitis mainly occurs in the thoracic and abdominal aorta and its branches, middle cerebral artery and so on.Of the 8 cases of hemophagocytic syndrome, 2 cases died.Early anti-infection, methylprednisolone shock and surgical treatment can improve the prognosis.Vaccination and drug prophylaxis can help those with under-lying diseases such as splenic dysfunction to reduce the incidence of SPD, such as SP-OPSI.

20.
Journal of Southern Medical University ; (12): 1514-1520, 2018.
Article in Chinese | WPRIM | ID: wpr-772132

ABSTRACT

OBJECTIVE@#To analyze the morphological features and forensic pathological characteristics of cardiac ruptures of different causes for their differential diagnosis.@*METHODS@#We analyzed the data of 44 autopsy cases of cardiac rupture from 2014 to 2017 in our institute, including 11 cases caused by blunt violence with intact pericardium, 4 caused by cardiopulmonary resuscitation (CPR), 9 by myocardial infarction, and 20 by aorta dissection rupture.The gross features and histopathological characteristics of cardiac rupture and pericardial effusion were analyzed and compared.@*RESULTS@#Cardiac ruptures caused by blunt violence varied in both morphology and locations, and multiple ruptures could be found, often accompanied with rib or sternum fractures; the volume of pericardial effusion was variable in a wide range; microscopically, hemorrhage and contraction band necrosis could be observed in the cardiac tissue surrounding the rupture.Cardiac ruptures caused by CPR occurred typically near the apex of the right ventricular anterior wall, and the laceration was often parallel to the interventricular septum with frequent rib and sternum fractures; the volume of pericardial blood was small without blood clots; microscopic examination only revealed a few hemorrhages around the ruptured cardiac muscular fibers.Cardiac ruptures due to myocardial infarction caused massive pericardial blood with blood clots, and the blood volume was significantly greater than that found in cases of CPR-induced cardiac rupture ( < 0.05);lacerations were confined in the left ventricular anterior wall, and the microscopic findings included myocardial necrosis, inflammatory cell infiltration, and mural thrombus.Cardiac tamponade resulting from aorta dissection rupture was featured by massive pericardial blood with blood clots, and the blood volume was much greater than that in cases of cardiac ruptures caused by blunt violence, myocardial infarction and CPR ( < 0.05).@*CONCLUSIONS@#Hemorrhage, inflammatory cell infiltration, and lateral thrombi around the cardiac rupture, along with pericardial blood clots, are all evidences of antemortem injuries.


Subject(s)
Humans , Aortic Dissection , Aortic Aneurysm , Cardiopulmonary Resuscitation , Forensic Pathology , Heart Rupture , Pathology , Heart Rupture, Post-Infarction , Pathology , Myocardial Contusions
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