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Objective To assess the risk of nosocomial infection in patients with multiple myeloma during their first hospitalization. Methods Totally 480 patients with multiple myeloma who were hospitalized for the first time in department of hematology of West China Hospital, Sichuan University from August 2021 to August 2022 were included, and the nosocomial infection during treatment was statistically analyzed. The patients were divided into infected group and uninfected group. The independent influencing factors of nosocomial infection were analyzed and a prediction model was established. The reliability of the prediction model was analyzed by receiver operating characteristic curve (ROC). Results The incidence rate of nosocomial infection was 31.2% among 480 patients hospitalized for the first time. There were statistically significant differences in age, ISS staging, controlling nutritional status (CONUT) score, agranulocytosis, hemoglobin, and albumin between the infected group and the uninfected group (P<0.05). Logistic multivariate regression analysis showed that age, ISS staging, CONUT score, agranulocytosis, hemoglobin level, and albumin level were all independent correlated factors of nosocomial infection in patients with multiple myeloma hospitalized for the first time (P<0.05). The area under the ROC curve (AUC), sensitivity and specificity of multivariate logistic regression prediction model were 0.88 (95%CI: 0.840-0.920), 85.00% and 76.36%, respectively. Conclusion The incidence rate of nosocomial infection is high among patients with multiple myeloma in the first hospitalization. The prediction model established according to independent correlated factors of nosocomial infection has high predictive value on the occurrence of nosocomial infection.
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OBJECTIVE To optimize extraction technology of couplet medicinals of Astragalus membranaceus-Puerariae lobatae. METHODS With contents of puerarin，daidzin，calycosin-7-O-β-D-glucopyranoside，daidzein，calycosin and formononetin and the yield of dry extract as index，the analytic hierarchy method was used to determine the weight coefficient of each index and calculate the comprehensive score. The effects of solid-liquid ratio， extraction times and extraction time on the comprehensive score were investigated by single factor test. The level of each factor was determined. By multi-index comprehensive scoring method， using comprehensive scores of above 7 indexes as indexes，the extraction technology of couplet medicinals of A. membranaceus-P. lobata was optimized by orthogonal experiment，and the validation tests were conducted. RESULTS The weight coefficient for the contents of puerarin，daidzin，calycosin-7-O-β-D-glucopyranoside，daidzein，calycosin and formononetin and the yield of dry extract were respectively 0.304 7，0.065 2，0.185 8，0.185 8，0.107 8，0.107 8 and 0.042 7. The optimal extraction technology was determined as follows： solid-liquid of 1∶8（g/mL），extracting 3 times and for 1 h each time. RSD of each evaluation index in the validation test results was lower than 3.00% （n＝3）. CONCLUSIONS The optimized extraction technology for A. membranaceus-P. lobata is stable and feasible.
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Objective:To assess the risk of venous thromboembolism (VTE) and anticoagulation-related bleeding of acute critical emergency patients staying in the emergency department at least 72 h, so as to improve the ability of emergency physicians to identify risk factors of VTE and their awareness of safety prevention in these patients.Methods:Multicenter emergency internal medicine patients meeting the inclusion criteria at the same time were collected. Padua and Caprini scores were used to evaluate the risk of VTE and the HAS-BLED score was used to assess the risk of anticoagulation-related bleeding.Results:A total of 930 emergency patients from 7 medical centers were enrolled in our study from January 15, 2021 to March 15, 2021. The proportion of high-risk population with VTE was 50.22% with Padua score and 78.49% with Caprini score, respectively. The proportion of high-risk bleeding (HAS-BLED score) was 40.43%.Conclusions:More than half of the acute critical ill patients who stay in emergency department for more than 72 h are at high risk of VTE. This group of patients have a relatively low risk of anticoagulation-related bleeding.
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For wild natural medicine, unanticipated biodiversity as species or varieties with similar morphological characteristics and sympatric distribution may co-exist in a single batch of medical materials, which affects the efficacy and safety of clinical medication. DNA barcoding as an effective species identification tool is limited by its low sample throughput nature. In this study, combining DNA mini-barcode, DNA metabarcoding and species delimitation method, a novel biological sources consistency evaluation strategy was proposed, and high level of interspecific and intraspecific variations were observed and validated among 5376 Amynthas samples from 19 sampling points regarded as "Guang Dilong" and 25 batches of proprietary Chinese medicines. Besides Amynthas aspergillum as the authentic source, 8 other Molecular Operational Taxonomic Units (MOTUs) were elucidated. Significantly, even the subgroups within A. aspergillum revealed here differ significantly on chemical compositions and biological activity. Fortunately, this biodiversity could be controlled when the collection was limited to designated areas, as proved by 2796 "decoction pieces" samples. This batch biological identification method should be introduced as a novel concept regarding natural medicine quality control, and to offer guidelines for in-situ conservation and breeding bases construction of wild natural medicine.
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ObjectiveTo investigate the relationship between lower limb muscle strength and walking speed in older adults, and to analyze the mediating role of flexibility and dynamic balance. MethodsFrom November to December, 2021, a total of 155 older adults at the Shanghai Senior Sports and Health Home were included. Their basic health information was collected, and the lower limb muscle strength, flexibility, dynamic balance and walking speed were tested. A mediated effects analysis was conducted. ResultsThere was a pairwise correlation among lower limb muscle strength, flexibility, dynamic balance and walking speed in older adults (r > 0.210, P < 0.01). In the mediated effects model, after controlling for age and gender, lower limb muscle strength did not directly predict walking speed in older adults (β = 0.029, P = 0.699), however, lower limb muscle strength could influence walking speed through the partial mediation of dynamic balance (effect = 0.0130, 95% CI 0.0073~0.0197) and the chain mediation of lower flexibility and dynamic balance (effect = 0.0019, 95% CI 0.0003~0.0043). ConclusionLower limb muscle strength can indirectly affect walking speed in older adults through the mediators of flexibility and dynamic balance, or the dynamic balance alone.
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Post-transplant lymphoproliferative disorder (PTLD) is a solid organ or hematopoietic stem cells transplant associated syndrome, and central nervous system PTLD(CNS-PTLD) is extremely rare. A case of CNS-PTLD occurring after 24 years of kidney transplant was reported, and pathological examination proved it to be diffuse large B cell lymphoma. Cerebrospinal fluid next generation sequencing and pathological examination supported that Epstein-Barr virus infection was associated with it.
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Objective:Rat model of RA complicated with pulmonary fibrosis were constructed to observe the degree of improvement of pulmonary fibrosis in RA rats by JAK2 inhibitor CEP33779 and the possible mechanisms.Methods:①The RA models were constructed by subcutaneous injection of 0.2 ml (1 mg/ml) of bovine type Ⅱ collagen into the tail of the rats on the day of modeling development (d0); intratracheal injection of 100 μl bleomycin (2.5 mg/kg) was used to induce pulmonary fibrosis model at d13. In vivo study: model rats were randomly divided into the normal group, pulmonary fibrosis group, pulmonary fibrosis CEP treatment group, RA complicated with pulmonary fibrosis group, and RA complicated pulmonary fibrosis CEP treatment group. Rats in the treatment group was given CEP (10 ml/kg) qd by gavage from d14 to week 4. The right hind foot of the rats was measured for joints swelling and the arthritis index score were measured, lung compliance (Cst) and lung specific gravity were measured. In addition, the pathological changes of the left lung were observed by HE and Masson staining, and the extracellular matrix level of the right lung was measured by protein immunoblotting (WB). ② In vitro study: TGF-β 1 (10 ng/ml) was applied to stimulate human embryonic lung fibroblasts (HFL1) for 24 h and 48h, and p-JAK2 expression was detected by immunofluorescence. After HFL1 inoculation of culture plates, the control group, TGF-β 1 stimulation group, TGF-β 1+ LY2109761 (TGFβ-R1/2 inhibitor group, 0.5 mmol/L and 2 mmol/L) group, TGF-β 1+CEP (0.1 mmol/L and 1.0 mmol/L) group were co-incubated for 48 h, and the expression levels of TGFβ-R2, α-SMA, JAK2, and Col 1 were measured by WB. Comparisons between multiple groups were made by Tukey′s test, and comparisons between the two groups were analyzed by independent t-test. Results:① In vivo study, compared with the control group (1.45±0.04), joint swelling was increased at d13 [(2.54±0.16) in RA+PF+Vehicle group, t=16.02, P<0.001], and the mean arthritis index score and toe volume were decreased 3 days after CEP treatment(d16) [(2.89±0.11), t=5.78, P<0.001; (1.92±0.13), t=6.85, P<0.001]. For rats with pulmonary fibrosis, all had different degrees of lung enlargement, increased lung specific gravity, decreased Cst, and increased lung inflammation and fibrosis[(0.96±0.06), t=19.76, P<0.001; (0.26±0.09), t=17.64, P<0.001; (3.63±1.51), t=6.00, P<0.001; (1.75±0.71), t=5.84, P<0.001]. After CEP gavage, rats that had RA complicated with pulmonary fibrosis had reduced lung swelling, decreased lung specific gravity, increased Cst [(0.82±0.05), t=5.76, P<0.001; (0.43±0.18), t=2.31, P=0.038], and the scores of pulmonary fibrosis and inflammation [(3.00±1.00); (1.56±0.52)] all showed a trend of decrease, but did not reach statistical difference CEP inhibited the expression of TGF-β 1, TGFβ-R2, α-SMA, Fn and JAK2 in lung tissue of pulmonary fibrosis rats, and the differences among the five groups were statistically significant ( F=9.02, P=0.017; F=4.86, P=0.048; F=6.57, P=0.032; F=11.26, P=0.010; F=13.32, P=0.007). ② In vitro study, TGF-β 1 stimulated HFL1 showed stronger phosphorylated JAK2 (p-JAK2) fluorescent signal WB showed a significant increase in the expression of TGFβ-R2, α-SMA, JAK2 and Col1, and after LY and CEP intervention, the above proteins were reduced in a concentration-dependent manner, with statistically significant differences among all five groups ( F=337.30, P<0.001; F=20.61, P<0.001; F=100.60, P<0.001; F=180.90, P<0.001). Conclusion:JAK2 inhibitors can ameliorate RA-related pulmonary fibrosis, and the mechanism may be through interfering with the "crosstalk" between JAK2 and TGF-β 1 signaling pathway.
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Objective:To explore the diagnostic value of chromosome karyotype analysis, chromosomal microarray analysis (CMA) and whole exome sequencing (WES) in microcephaly.Methods:A total of 9 cases of microcephaly fetuses diagnosed by prenatal ultrasound or children with microcephaly diagnosed after birth were selected from the Sixth Affiliated Hospital of Guangzhou Medical University from January 2014 to August 2022.Karyotype analysis and/or CMA were used to detect. The cases with negative karyotype analysis and CMA results were further sequenced by trio-based WES (Trio-WES). Then the coding genes contained in the pathogenic copy number variation (CNV) fragments were analyzed by gene ontology (GO) enrichment. The genes related to the development of the central nervous system contained in the pathogenic CNV and the pathogenic genes found by Trio-WES were combined for gene interaction network analysis.Results:In this study, 9 cases of microcephaly were recruited, with the time of diagnosis ranged from 23 weeks of gestation to 7 years after birth, and the head circumference of fetus or children ranged from 18.3 to 42.5 cm (-7SD to -2SD). Karyotype analysis was detected in all 9 cases and no abnormality result was found. Eight cases were detected by CMA, and one abnormal was found. Five cases were detected by Trio-WES, and two cases were detected with likely pathogenic genes. The GO enrichment analysis of the coding gene in the 4p16.3 microdeletion (pathogenic CNV) region showed that: in biological process, it was mainly concentrated in phototransduction, visible light; in terms of molecular function, it was mainly concentrated in fibroblast growth factor binding; in terms of cell components, it was mainly concentrated in rough endoplasmic reticulum. Gene interaction network analysis suggested that CDC42 gene could interact with CTBP1, HTT and ASPM gene.Conclusions:CMA could be used as a first-line detection technique for microcephaly. When the results of chromosome karyotype analysis and/or CMA are negative, Trio-WES could improve the detection rate of pathogenicity of microcephaly.
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Objective:To construct a nomogram for predicting the occurrence of renal allograft rejection based on the combination of multimodal ultrasound features and clinical data.Methods:The ultrasound findings and clinical characteristics of 102 patients with transplanted kidneys who underwent renal biopsy in the General Hospital of Eastern Theater Command from January 2021 to March 2022 were analyzed retrospectively. Patients were divided into rejection group and nephropathy group according to Banff transplant kidney pathological diagnostic criteria (2017 edition). Multivariate Logistic regression was used to screen independent predictors related to the status of rejection, and nomograms were drawn based on the independent predictors. The internal validation of the nomogram was carried out by Bootstrap method, and the ROC curve and calibration curve were utilized to evaluate the diagnostic efficacy of the nomogram.Results:Blood urea nitrogen concentration, renal aortic resistance index, absolute time to peak and cortical echo were independent predictors of rejection( OR=1.073, 1.078, 0.843, 0.205; all P<0.05). Incorporating blood urea nitrogen concentration, renal aortic resistance index, absolute peak time and cortical echo, the nomogram was constructed. The AUC of the predictive model was 0.814(95% CI=0.722-0.905) and the cutoff value was 0.67(corresponding to a total score of about 157 points). Both internal verification (AUC=0.788) and calibration curve demonstrated the clinical usefulness of the nomogram. Conclusions:The nomogram for predicting the occurrence of rejection in renal allograft patients based on multimodal ultrasound features and clinical data can guide the individualized treatment of patients with renal dysfunction.
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Objective:To investigate the clinical and genetic characteristics of Prader-Willi syndrome (PWS).Methods:The clinical data and genetic characteristics of 2 children with PWS diagnosed in Hebei Provincial People's Hospital were retrospectively analyzed, and the relevant literature was reviewed.Results:Case 1, male, aged 6 years and 3 months, was presented to the hospital because of short stature, mild mental retardation, dysarthria, scoliosis, cryptorchidism, micropenis, long skull, narrow face, almond eyes, small mouth, thin upper lip, downward corners of the mouth, fair skin. He had hypotonia and feeding difficulties in infancy, and gradually became hyperappetitive. Bilateral cryptorchidism surgery was performed at 1.5 years old, but the effect was not good. Case 2, male, aged 4 years, presented to the hospital mainly due to obesity, hyperappetite, excessive weight gain, backward language and cognitive function, dysarthria, and scoliosis.The infant had feeding difficulties in the early stage, and bilateral cryptorchidism surgery at the age of 2 was not effective.Methylation specific polymerase chain reaction and methylation specific multilink probe amplification were used to detect the loss of the parent fragment in the key region (15q11-13) of PWS, which confirmed Prader-Willi syndrome.Conclusion:PWS is a rare hereditary disease with complex and diverse clinical manifestations and different characteristics in different age groups. It is highly susceptible to unexplained hypotonia and feeding difficulties in infancy. Children with short stature and obesity should be alert to the disease, which can be clearly diagnosed by molecular genetic techniques.
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Objective To investigate the value of a risk assessment model in predicting venous thromboembolism (VTE) in patients with liver failure after artificial liver support therapy. Methods A retrospective analysis was performed for the clinical data of 124 patients with liver failure who received artificial liver support therapy in Affiliated Drum Tower Hospital of Nanjing University Medical School from March 2019 to December 2021, among whom there were 41 patients with VTE (observation group) and 143 patients without VTE (control group). Related clinical data were compared between the two groups, and the Caprini risk assessment model was used for scoring and risk classification of the patients in both groups. The t -test was used for comparison of continuous data between two groups; the chi-square test was used for comparison of categorical data between two groups; the Mann-Whitney U rank sum test was used for comparison of ranked data between two groups. The logistic regression analysis was used to investigate the independent risk factors for VTE in patients with liver failure after artificial liver support therapy. The receiver operating characteristic (ROC) curve was used to investigate the value of Caprini score and the multivariate predictive model used alone or in combination in predicting VTE. Results The observation group had a significantly higher Caprini score than the control group (4.39±1.10 vs 3.12±1.04, t =6.805, P < 0.001). There was a significant difference between the two groups in risk classification based on Caprini scale ( P < 0.05), and the patients with high risk or extremely high risk accounted for a higher proportion among the patients with VTE. The univariate analysis showed that there were significant differences between the two groups in age ( t =6.400, P < 0.001), catheterization method ( χ 2 =14.413, P < 0.001), number of times of artificial liver support therapy ( Z =-4.720, P < 0.001), activity ( Z =-6.282, P < 0.001), infection ( χ 2 =33.071, P < 0.001), D-dimer ( t =8.746, P < 0.001), 28-day mortality rate ( χ 2 =5.524, P =0.022). The multivariate analysis showed that number of times of artificial liver support therapy (X 1 ) (odds ratio [ OR ]=0.251, 95% confidence interval [ CI ]: 0.111-0.566, P =0.001), activity (X 2 ) ( OR =0.122, 95% CI : 0.056-0.264, P < 0.001), D-dimer (X 3 ) ( OR =2.921, 95% CI : 1.114-7.662, P =0.029) were independent risk factors for VTE in patients with liver failure after artificial liver support therapy. The equation for individual predicted probability was P =1/[1+e -(7.425-1.384X 1 -2.103X 2 +1.072X 3 ) ]. The ROC curve analysis showed that Caprini score had an area under the ROC curve of 0.802 (95% CI : 0.721-0.882, P < 0.001), and the multivariate model had an area under the ROC curve of 0.768 (95% CI : 0.685-0.851, P < 0.001), while the combination of Caprini score and the multivariate model had an area under the ROC curve of 0.957 (95% CI : 0.930-0.984, P < 0.001). Conclusion The Caprini risk assessment model has a high predictive efficiency for the risk of VTE in patients with liver failure after artificial liver support therapy, and its combination with the multivariate predictive model can significantly improve the prediction of VTE.
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Objective:To investigate the effect of CHI3L1 on the biological function of chondrocytes and its role in lumbar facet joint degeneration.Methods:The human lumbar facet joint articular cartilage were collected, and the relative mRNA expression of CHI3L1 gene detected by quantitative fluorescence PCR. Then explored the correlation between joint degeneration and gender, age and relative mRNA expression of CHI3L1. Human chondrocytes were cultured in vitro. The effects of CHI3L1 on chondrocyte proliferation, cycling, and apoptosis, as well as expression of related inflammatory factors, were investigated. The mechanism by which CHI3L1 regulates the degeneration of articular cartilage was investigated using the signal transduction pathway protein chip.Results:There was a positive correlation between the grade of degeneration in lumbar facet joint and the relative expression of CHI3L1 gene mRNA ( r=0.76, P<0.001). There was no correlation with the patient's gender ( r=-0.12, P=0.500). A positive correlation between the age of patients and the relative expression of CHI3L1 gene mRNA was found ( r=0.47, P=0.005). Compared with the non-degenerative group, the expression of CHI3L1 gene mRNA significantly increased in the degenerative group, and the expression of CHI3L1 gradually increased with the aggravation in the grade of degeneration ( F=18.90, P<0.001). Compared with the non-degenerative group, the chondrocytes in the CHI3L1 group had significantly lower proliferation at 48 h (OD 490/fold=7.132), 72 h (OD 490/fold=4.803), 96 h (OD 490/fold=2.431) and 120 h (OD 490/fold=0.009). The ratio of chondrocytes in G1 phase, S phase and G2/M phase were 85.03%±3.05%, 12.78%±2.29% and 0.90%±0.76% in the CHI3L1 group, and 73.93%±2.73%, 22.81%±1.93% and 0.99%±0.87% in control group, respectively. There were significant differences in the percentage of chondrocytes in G1 phase ( t=4.70, P<0.001) and S phase ( t=5.80, P<0.001) between the two groups. The percentages of apoptosis in chondrocyte in CHI3L1 group and control group were 8.64%±0.76% and 5.68%±1.13%, which has a statistically difference ( t=4.47, P<0.001). The expression of IL-6 in chondrocytes of CHI3L1 group was 49.60±0.01 pg/ml, which was higher than that of 47.88±0.01 pg/ml in the control group ( t=132.70, P<0.001). The expression of TNF-α was 95.93±0.02 pg/ml, which was higher than 90.69±0.02 pg/ml in the control group ( t=376.10, P<0.001). There was significant difference in expression of IL-6 in chondrocytes between the CHI3L1 group and the control group ( t=132.72, P<0.001). The expression of TNF-α ( t=376.10, P<0.001) was statistically difference. Protein chip detected 53 proteins with significant differences in expression and 43 proteins with significant differences in protein phosphorylation levels. Bioinformatics analysis was used to identify 16 signaling pathways in which the above different proteins might be involved, including ErbB, PI3K, Akt, Ras, JAK, STAT3, MAPK pathway. In the MAPK pathway, the expression of MAPK1 and RAF1 proteins was higher in the chondrocytes of the CHI3L1 group than in the control group (1.094±0.00 vs. 0.814±0.00, 0.988±0.00 vs. 0.786±0.00; t=103.16, P<0.001; t=54.32, P<0.001). Compared with the control group, the expression of MAPK1 and RAF1 proteins was significantly increased in the chondrocytes of the CHI3L1 group. Conclusion:The expression of CHI3L1 is corrected to articular cartilage degeneration. CHI3L1 is able to inhibit the proliferation of articular chondrocytes, which regulated the cycling of chondrocytes from G1 phase to S phase, promote the apoptosis of chondrocytes, and promote the expression of IL-6 and TNF-α in chondrocytes. Regulation of chondrocytes biological function through the MAPK pathway, which is a potential biomarker for the clinical diagnosis and treatment of lumbar joint degeneration.
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Objective:To evaluate the effect of microvascular invasion (MVI) on postoperative prognosis of microhepatocellular carcinoma by a meta-analysis system.Methods:Relevant literatures in PubMed, Cochrane Library, Embase, CNKI, VIP and Wanfang databases were systematically searched. The search period was from January 2012 to January 2022. The Chinese search terms were "liver cancer" , "hepatocellular carcinoma" , "2 cm" , "microvascular invasion" , and "prognosis" . The English search terms were "small" , "solitary small" , "up to 2 cm" , "< 2 cm" , "liver" , "hepatocellular carcinoma" , "microvascular invasion" . The differences in prognosis of patients with microhepatocellular carcinoma in MVI(+ ) group and MVI(-) group were compared. Meta-analysis was performed using Review Manager 5.4 software.Results:Finally, 7 articles were included in the systematic review, with a total of 1 319 patients. All included literatures were scored ≥7 on the modified Newcastle-Ottawa scale. The results of meta-analysis showed that there were no significant differences in 1-year overall survival (OS) between MVI(+ ) group and MVI(-) group ( OR=3.14, 95% CI: 0.92-10.72, P=0.068). The 5-year OS time of patients in the MVI(+ ) group was shorter than that in the MVI(-) group, and the differences were statistically significant ( OR=2.34, 95% CI: 1.62-3.36, P<0.001). The 1-year and 5-year disease-free survival of the MVI(-) group were better than those of the MVI(+ ) group, and the difference was statistically significant (1-year: OR=3.09, 95% CI: 1.75-5.44, P<0.001; 5 years: OR=1.76, 95% CI: 1.24-2.51, P=0.002). Conclusion:The 5-year and long-term survival of MVI(+ ) patients with microhepatocellular carcinoma was poor, and the postoperative recurrence rate was high.
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Objective:To investigate the clinical value of conventional ultrasound combined with automated breast volume scanner (ABVS) in predicting axillary lymph node metastasis (ALNM) of patients with invasive ductal carcinoma.Methods:A retrospective analysis was performed in 96 patients in the General Hospital of Eastern Theater Command from January 2014 to December 2020. All patients were examined by conventional ultrasound and ABVS before treatment. The patients were divided into the ALNM group and non-axillary lymph node metastasis (N-ALNM) group according to the postoperative pathological results. The differences of ultrasound parameters between the two groups were compared, and Logistic regression was used to analyze the independent predictive factors of ALNM. The ROC curve was plotted to evaluate the diagnostic efficacy for ALNM.Results:Compared with the N-ALNM group, the ALNM group had the characteristics of larger long diameters, unclear boundary, uneven internal echo, Adler blood flow grade Ⅱ-Ⅲ and retraction phenomenon (all P<0.05). Logistic regression analysis showed that the long diameter, uneven internal echo, and retraction phenomenon were independent predictors of ALNM ( OR=1.051, 4.055, 3.493, all P<0.05). The area under curve of ALNM was 0.752(0.653-0.834), the sensitivity and specificity were 54.7% and 83.7%, respectively. Conclusions:The long diameter, uneven internal echo, and retraction phenomenon measured by conventional ultrasound and ABVS are independent predictors of ALNM. The combination of the three can provide imaging references for the evaluation of ALNM of breast cancer.
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Objective:To summarize the genetic characteristics of a case of spinal muscular atrophy type 1c.Methods:The case data of a child with spinal muscular atrophy type 1c was retrospectively analyzed, and the genetic analysis and literature review were carried out.Results:The patient, male, started at the age of 2 months, and showed gross motor development backwardness and low muscular tension. Multiplex connection probe amplification technique showed that the child had homozygous deletion mutation in exon 7-8 of SMN1 gene, and there was duplicate mutation in exon 7-8 of SMN2 gene. The number of copies of exon 7/8 was 3/3. His father was a heterozygous deletion carrier of SMN1 gene, and there was homozygous mutation in exon 8 of SMN2 gene. The number of copies of exon 7/8 was 2/3. His mother did not find abnormal exons of SMN1 gene, and the number of copies of exon 7/8 of SMN2 gene was 1/1.Conclusion:Spinal muscular atrophy lacks specific manifestations in the early stage, and the diagnosis mainly depends on genetic testing. Clinicians need to be vigilant, strengthen the early understanding of the disease, and improve the prognosis.
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Objective:To observe the mRNA and protein expression levels of thyroid stimulating hormone receptor (TSHR), protein kinase A (PKA) and sodium iodine transporter (NIS) in mammary gland tissue of lactating rats with different iodine nutrition levels, and to explore the role of thyroid stimulating hormone (TSH)-THSR-cyclic adenosine monophosphate (cAMP)-PKA signal pathway in the process of mammary iodine uptake during lactation.Methods:Using a group design, according to body weight (80 - 100 g), 110 Wistar female rats were randomly divided into normal iodine (NI) group, severe iodine deficiency (SID) group, moderately iodine deficiency (MID) group, moderately iodine excess (MIE) group and severe iodine excess (SIE) group, with 22 rats in each group. Another 22 Wistar male rats were selected, and the feeding situation was consistent with that of NI group. After 3 months of feeding, 24-hour urine samples of female rats were collected, and the female rats were caged with the male rats (5 ∶ 1). After mating, each female rat was fed separately. At 10 days of childbirth, the lactating rats were sacrificed and thyroid and mammary gland tissues were taken. The urinary iodine was determined by arsenic cerium catalytic spectrophotometry. The morphological changes of thyroid and mammary gland tissues were observed by HE staining. The mRNA expression levels of TSHR, PKA and NIS in thyroid and mammary gland tissues were measured by real-time PCR; the protein expression levels of TSHR, PKA, phosphorylated PKA (p-PKA), and NIS in mammary gland tissue were measured by Western blotting.Results:Compared with NI group (162.59 μg/L), the median urinary iodine of female rats in SID and MID groups (3.16, 6.36 μg/L) was lower, and the median urinary iodine of female rats in MIE and SIE groups (2 356.27, 11 507.29 μg/L) was higher ( P < 0.01). HE staining showed that different levels of iodine uptake had different effects on thyroid follicles: most of the follicles in NI group were uniform round or oval; in MID group, the number of small follicles increased, the epithelial cells were monolayer columnar or cubic, the follicular cavity became smaller, and the glia decreased; the follicles in SID group became smaller, and the epithelial cells were columnar or high columnar, with reduced or absent glia in the follicular cavity; pleomorphic changes were found in thyroid follicles in SIE and MIE groups, with some follicles significantly enlarged and some small follicles hyperplasia. Different levels of iodine intake had different effects on mammary duct: compared with NI group, the connective tissue around the mammary duct in SID and MID groups showed obvious fibrosis, while the fibrosis in MIE and SIE groups was significantly reduced. The results of real-time PCR showed that there were significant differences in the mRNA expression levels of TSHR, PKA and NIS in thyroid tissues of lactating rats with different levels of iodine nutrition ( F = 10.73, 92.37, 115.75, P < 0.01). There were statistically differences in the mRNA expression levels of TSHR, PKA and NIS in mammary gland tissues of lactating rats with different levels of iodine nutrition ( F = 40.25, 39.63, 14.92, P < 0.05). Western blotting results showed that there were significant differences in the protein expression levels of TSHR, PKA, p-PKA and NIS in mammary gland tissues of lactating rats with different levels of iodine nutrition ( F = 4.14, 6.73, 8.48, 4.51, P < 0.05). Among them, the protein expression level of TSHR in MIE and SIE groups was lower than that in NI group ( P < 0.05); the protein expression level of PKA in SID and MID groups was higher than that in NI group ( P < 0.05); the protein expression level of p-PKA in SID group was higher than that in NI group, but that in SIE group was lower than that in NI group ( P < 0.05), the protein expression level of NIS in SID group was higher than that in NI group ( P < 0.05). Conclusions:The mRNA and protein expression levels of TSHR are decreased in mammary gland tissues of lactating rats with high iodine intake, while the mRNA and protein expression levels of PKA and NIS are increased in low iodine intake. TSH-TSHR-cAMP-PKA signal pathway may be involved in the regulation of iodine intake in mammary gland tissue of lactating rats, which may protect itself and its offspring.
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Objective:To compare the accuracy of IOLMaster 700 and IOLMaster 500 in intraocular lens (IOL) power calculation.Methods:A cross-sectional study was conducted.Two hundred and sixty-two eyes of 262 patients who underwent phacoemulsification combined with IOL implantation at the Eye Hospital of Wenzhou Medical University from November 2018 to November 2019 were enrolled.Preoperative biometry for cataract surgery was performed using IOLMaster 700 and IOLMaster 500.IOL power was calculated through the built-in formulas, Haigis, Holladay Ⅰ, Hoffer Q and SRK/T of the two devices.The difference in IOL power calculation between the two devices was analyzed through the prediction error of IOL power calculation using different formulas across different axial length (AL) ranges.This study complied with the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of the Eye Hospital of Wenzhou Medical University (No.2020-038-K-33). Written informed consent was obtained from each patient before the surgery.Results:There was no significant difference in mean absolute error (MAE) between IOLMaster 700 and IOLMaster 500 using Haigis, Hoffer Q and SRK/T over the entire AL range (all at P >0.05). The MAE of IOLMaster 500 was 0.47 (0.24, 0.90) D, which was significantly lower than 0.50 (0.28, 0.99) D of IOLMaster 700 using Holladay Ⅰ formula ( Z=-3.120, P=0.002). When AL was <22.0 mm and ≥24.5 mm-<26.0 mm, there was no significant difference in MAE between the two devices using the four formulas (all at P >0.05). When AL was ≥22.0 mm-24.5 mm, there was no significant difference in the MAE between the two devices using Haigis, Hoffer Q and SRK/T (all at P >0.05), but 0.42 (0.18, 0.75) D from IOLMaster 500 was smaller than 0.45 (0.25, 0.79) D from IOLMaster 700 using Holladay Ⅰ, showing a statistically significant difference ( Z=-3.487, P <0.001). But the difference was negligible and therefore was of no clinical significance.When AL was ≥26.0 mm, there was no statistically significant difference in the MAE between the two devices using Haigis, Holladay Ⅰ and SRK/T, but 0.66 (0.38, 1.00) D from IOLMaster 500 was significantly smaller than 0.98 (0.62, 1.32) D from IOLMaster 700 using Hoffer Q ( Z=-3.046, P=0.002). Conclusions:The refractive prediction accuracy of IOLMaster 700 and IOLMaster 500 using Haigis, Hoffer Q and SRK/T is similar over the entire AL range.For patient with long AL, the IOL calculation from IOLMaster 700 using Hoffer Q is significantly larger than that from IOLMaster 500, which requires extra caution in clinical practice.The accuracy of IOLMaster 700 and IOLMaster 500 for IOL prediction is very similar.
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Objective:To analyze the correlation between two-dimensional ultrasound and HbA1c, Thyroid stimulating hormone (TSH) and its diagnostic value in benign and malignant Thyroid nodules.Methods:A total of 155 patients with thyroid nodules examined in the Department of Ultrasound Medicine of Haikou Orthopedics and Diabetes Hospital from January 2020 to January 2021 were prospectively selected. With surgical pathological examination as the gold standard, they were divided into benign group (75 cases) and malignant group (80 cases) according to the nature of nodules. There were 40 males and 35 females in the benign group, with an age of (47.95±8.26) years old and BMI of (22.45±1.26) kg/m2. There were 42 males and 38 females in the malignant group, with an age of (48.22±8.01) years old and BMI of (22.36±1.21) kg/m2. The expression level of HbA1c was detected by automatic biochemical analyzer, and the concentration of TSH was detected by automatic immunoassay. SPSS 19.0 statistical software was used for analysis and processing.Results:Compared with benign thyroid nodules, the mean transit time (MTT) and time to peak intensity of malignant thyroid nodules were (0.92±0.11 vs 1.48±0.42) s and (1.48±0.42) s respectively. TIP (1.06±0.21 vs 1.57±0.56) s, perfusion Index (PI) (1.15±0.22 vs 1.76±0.62) s parameters increased, and the differences were statistically significant ( P < 0.05) . Compared with patients with benign thyroid nodules, the expression levels of HbA1c (6.98±0.73 VS 10.22±1.35) % and TSH (3.95±0.53 VS 8.75±0.95) mIU/L in patients with malignant thyroid nodules were significantly higher ( P<0.05) . The expression levels of MTT, TIP, PI, HbA1c, and TSH were correlated with those of benign and malignant thyroid nodules, and the expression levels of MTT, TIP, PI, HbA1c, and TSH were positively correlated with those of benign and malignant patients ( P<0.05) . MTT, TIP and PI had correlation with the expression levels of HbA1c and TSH. Positive correlation: MTT had a positive correlation with HbA1c and TSH. TIP had a positive correlation with HbA1c and TSH. PI had a positive correlation with HbA1c and TSH ( P<0.05) . Compared with the single diagnosis of MTT, TIP and PI, the three combinations had higher diagnostic value for malignant thyroid nodules ( P=0.001) . Conclusion:Two-dimensional ultrasound parameters have high diagnostic value in malignant thyroid nodules, and have certain correlation with HbA1c and TSH, which can be used for the diagnosis of malignant thyroid nodules.
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Gastric cancer is one of the most common malignancies and is the third leading cause of cancer-related deaths worldwide, constituting a serious threat to human health. Long non-coding RNA (lncRNA) is involved in the occurrence and development of gastric cancer at multiple levels and plays critical regulatory roles. It plays important roles in the diagnosis, treatment and prognostic assessment of gastric cancer. This review focuses on the recent research advances in the clinical applications of lncRNA in gastric cancer.
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Relapsing polychondritis is an immune mediated systemic inflammatory disease, involving the cartilaginous and proteoglycan rich structures. The characteristic manifestations were inflammation and deformity of ear and nasal cartilage. Here, Chinese Rheumatology Association summarized manifestations, diagnosis and disease activity index evaluation of relapsing polychondritis, standardized treatment regimens, to improve disease prognosis.