Vitamin D levels in the assessment of Crohn's disease activity and their relation to nutritional status and inflammation.

BACKGROUND: Crohn's disease (CD) is frequently associated with malnutrition, inflammation and a deficiency of vitamin D (VD) with the relationships between these symptoms being poorly defined. VD is a modulator of the immune system and is associated with the onset of CD and disease activity. The level of serum VD may have potential in the assessment of CD activity. This study aimed to evaluate the relationships between VD, nutritional status and inflammation, and to identify more accurate VD thresholds. METHODS: The study included 76 outpatients with CD diagnosed between October 2018 and October 2020 and 76 healthy volunteers. Levels of serum 25(OH)D and nutritional indicators, as well as biochemical and disease activity assessments, were conducted. RESULTS: Patients with CD and healthy participants were found to differ significantly in their 25(OH)D levels as well in levels of nutritional and inflammatory indicators. The optimal VD cut-off value was found to be 46.81 nmol/L for CD development and 35.32 nmol/L for disease activity. Levels of 25(OH)D were correlated with both nutritional status and inflammation. CONCLUSIONS: The VD level is likely to be a useful additional tool in the evaluation of CD patients and predicting the disease activity and clinical response. The VD level may relate both to the nutritional status and levels of inflammation in CD patients, and disease progression.

Spastic paraplegia as the only symptom in two adult-onset patients carrying a novel pathogenic variant in PYCR2.

A novel pathogenic PYCR2 variant and corresponding brain images in two patients characterized by spastic paraplegia.

Haplotype analysis encompassing HTT gene in Chinese patients with Huntington's disease.

BACKGROUND AND PURPOSE: Huntington's disease (HD) is a dominantly inherited neurodegenerative disorder with varied prevalence in different populations, which may be associated with specific haplotypes. This study aimed to explore the haplotypes encompassing the HTT gene in the Chinese population. METHODS: A total of 406 individuals with HD and 59 normal relatives from 253 families with HD were enrolled. A total of 29 tag single nucleotide polymorphisms (tSNPs) were selected and genotyped for the haplotype analysis. RESULTS: In stage one, we used 18 tSNPs to replicate the distribution of three major haplogroups (A, B, C). We found that risk-associated haplogroup variants A1 and A2, enriched on Caucasian HD chromosomes, were totally absent from both Chinese HD and control chromosomes, and the distributions of haplogroups between HD and control chromosomes were similar. Therefore, in stage two, we used 29 tSNPs (including the18 tSNPs) to define new haplogroups (I, II, III) and found that haplogroup I accounted for 61.4% on HD chromosomes and 34.4% on control chromosomes, indicating that haplogroup I was enriched on Chinese HD chromosomes. CONCLUSIONS: This is the first haplotype analysis encompassing HTT in the Chinese population. The results contribute to explaining the low prevalence of HD in China and provide a better understanding of genetic diversity in the HTT region.

The investigation of genetic and clinical features in Chinese patients with juvenile amyotrophic lateral sclerosis.

Juvenile amyotrophic lateral sclerosis (JALS) occurs at an age of onset below 25 years with a heterogeneous disease onset location, variable progression and survival time. To investigate whether an ALS gene profile could resolve any aspects of clinical symptom heterogeneity, we have used targeted sequencing technology in a cohort of 12 JALS patients of Chinese descent. We detected 5 likely pathogenic mutations, 2 in familial probands and 3 in sporadic patients. One was a known TARDBP mutation (p.G348V) and 4 were FUS frameshift mutations including a known p.Gln519Ilefs*9 mutation and 3 novel mutations, p.Gly515Valfs*14, p.Gly486Profs*30, and p.Arg498Alafs*32. Of the 4 FUS mutations, 2 were able to be confirmed as de novo mutations. The TARDBP mutation carrier showed a classic ALS phenotype. All patients with FUS mutations experienced limb weakness at an early age and developed bulbar symptoms during the disease course. FUS mutations have previously been associated with increased JALS disease progression, however, we found a large range 12 to 84 months in disease survival (mean 58.2 months). Our results justify future screening for variants in FUS as it remains the most frequent genetic determinant of early onset, JALS (found in 30% of our patients).

Spinocerebellar ataxia: relationship between phenotype and genotype - a review.

Spinocerebellar ataxia (SCA) comprises a large group of heterogeneous neurodegenerative disorders inherited in an autosomal dominant fashion. It is characterized by progressive cerebellar ataxia with oculomotor dysfunction, dysarthria, pyramidal signs, extrapyramidal signs, pigmentary retinopathy, peripheral neuropathy, cognitive impairment and other symptoms. It is classified according to the clinical manifestations or genetic nosology. To date, 40 SCAs have been characterized, and include SCA1-40. The pathogenic genes of 28 SCAs were identified. In recent years, with the widespread clinical use of next-generation sequencing, the genes underlying SCAs, and the mutants as well as the affected phenotypes were identified. These advances elucidated the phenotype-genotype relationship in SCAs. We reviewed the recent clinical advances, genetic features and phenotype-genotype correlations involving each SCA and its differentiation. The heterogeneity of the disease and the genetic diagnosis might be attributed to the regional distribution and clinical characteristics. Therefore, recognition of the phenotype-genotype relationship facilitates genetic testing, prognosis and monitoring of symptoms.

Analysis of renal functions and proteinuria in young obese adults.

OBJECTIVE: To investigate the prevalence of obesity in young adults and to analyze the influencing factors on renal functions and proteinuria in this population. METHODS: This study comprised civil servants between 20 and 39 years old, who received physical examinations at the First Affiliated Hospital of Fujian Medical University. The subjects were categorized into four groups based on age (20-24, 25-29, 30-34 and 35-39 years) and the number of risk factors they had (hypertension, dyslipidemia, hyperglycemia and hyperuricemia). The relationships between obesity and the prevalence of proteinuria, between obesity and risk factors and between estimated glomerular filtration rate (eGFR) and proteinuria were analyzed. RESULTS: Among the 2293 young civil servants, in men the prevalence of obesity was 33.3 % and proteinuria was 2.5 %. However in women the prevalence of obesity and proteinuria was 7.5 % and 1.7 %, respectively. The levels of blood pressure, serum uric acid (UA), cholesterol (TC), triglyceride (TG), fasting glucose (FBG) and low-density lipoprotein cholesterol (LDL-C) were lower and the level of serum high-density lipoprotein cholesterol (HDL-C) was higher in nonobese groups compared with obese groups. There were no significant differences in eGFR between the two groups. The eGFR in male subjects was associated with age, UA, body mass index (BMI), FBG, TC, TG, LDL and HDL, and in female subjects associated with UA, age, BMI, diastolic blood pressure, FBG and LDL. BMI in both males and females increased with the higher number of risk factors. Multiple regression analysis revealed that hypertension, dyslipidemia, hyperglycemia and hyperuricemia were independently associated with obesity. eGFR decreased with a higher number of risk factors. Obesity, blood pressure, dyslipidemia, hyperglycemia and hyperuricemia were independently associated with proteinuria. CONCLUSION: Obesity can pose an independent risk factor for proteinuria in young adults. Hypertension, dyslipidemia, hyperglycemia and hyperuricemia were independently associated with obesity. eGFR decreased with a higher number of risk factors.

Association of mu-opioid receptor expression with lymph node metastasis in esophageal squamous cell carcinoma.

The mu-opioid receptor (MOR), a membrane-bound G protein-coupled receptor, is the main target for opioids in the nervous system. MOR1 has been found in several types of cancer cells and reported to be involved in tumor progression and metastasis. However, the expression and clinical significance of MOR1 in esophageal squamous cell carcinoma (ESCC) remain unclear. In our study, the expression of MOR1 was confirmed in ESCC cell lines (KYSE180, KYSE150, and EC109) by Western blot. MOR1 was also detected on tissue microarrays of ESCC samples in 239 cases using immunohistochemical staining. We found that MOR1 was mainly located in the cytoplasm and occasionally occurred in the membrane or nucleus of ESCC cells. Moreover, results indicated that MOR1 expression in the cytoplasm was associated with lymph node metastasis (R = 0.164, P = 0.008, Kendall's tau-b-test). No more associations were found between MOR1 expression status and other clinical parameters. However, no statistical significant differences were found between MOR1 expression in the cytoplasm, nucleus/membrane, and the overall survival of ESCC patients (P = 0.848; P = 0.167; P = 0.428, respectively, log-rank test). Our results suggest that the cytoplasmic MOR1 may be a high-risk factor for lymph node metastasis of ESCC patients. We also hypothesize that MOR1 agonists used in ESCC patients should be prudent, and opioid receptor antagonists may be novel therapeutic drugs for ESCC patients.

Clinical features of Chinese patients with Huntington's disease carrying CAG repeats beyond 60 within HTT gene.

Patients with Huntington's disease (HD) carrying CAG repeats beyond 60 are less frequently seen and clinical features of them have been rarely reported. We identified four unrelated patients carrying CAG repeats beyond 60 (84.0 ± 13.76, ranging from 74 to 104) from 119 Chinese HD patients via direct sequencing. These four were all early onset with a mean age at presenting symptom of 9.8 ± 1.71 years. Paternal transmission was found in three of them and the fourth was apparently sporadic. In addition, they had atypical onset symptoms including epilepsy, intellectual decline, tics and walking instability, which might lead the clinicians to make the wrong diagnosis in the early stage of disease. Our work explores clinical features of Chinese HD patients with an expanded CAG repeat over 60 and may help the clinicians make a correct diagnosis in the early stage of disease.

Differential diagnosis of pancreatic serous oligocystic adenoma and mucinous cystic neoplasm with spectral CT imaging: initial results.

AIM: To investigate the imaging characteristics of pancreatic serous oligocystic adenoma (SOA) and mucinous cystic neoplasms (MCNs) using spectral computed tomography (CT) and to evaluate whether quantitative information derived from spectral imaging can improve the differential diagnosis of these diseases. MATERIALS AND METHODS: From February 2010 to June 2013, 44 patients (24 SOAs and 20 MCNs) who underwent spectral CT imaging were included in the study. Conventional characteristics and quantitative parameters were compared between the two disease groups. Logistic regression was used for multiparametric analysis. The receiver-operating characteristic curve was used to evaluate the diagnostic performance of single parameter and multiparametric analysis. Two radiologists diagnosed the diseases blinded and independently, without and with the information of the statistical analysis. RESULTS: Tumour location, contour, size, and monochromatic CT values at 40 keV to 70 keV, iodine concentration, and effective atomic number (effective-Z) in the late arterial phase were the independent factors correlated with category. Multiparametric analysis with logistic regression showed that tumour size, location, and contour were the most effective variations, and obtained an area under the ROC curve (AUC) of 0.934. With the knowledge of statistical analysis, the accuracy of the first reader increased from 70.5% to 86.4%, and the accuracy of the second reader increased from 81.8% to 90.9%. CONCLUSIONS: Although CT spectral imaging provided additional information and multiparametric analysis obtained better performance than single-parameter analysis in differentiating MCNs from SOAs, multiparametric analysis with the combination of quantitative parameters derived from CT spectral imaging did not improve the diagnostic performance. Tumour size, location, and contour played an important role in differentiating MCNs from SOAs.

Keloid microRNA expression analysis and the influence of miR-199a-5p on the proliferation of keloid fibroblasts.

The purpose of this study was to identify microRNAs (miRNAs) involved in keloid formation and determine their influence on the proliferation of keloid fibroblasts (KFs). Eight specimens each of resected keloid tissue and normal skin tissue were collected. miRNAs that are differentially expressed in keloid tissue and normal skin were detected using an miRNA microarray and verified by quantitative real-time polymerase chain reaction (RT-PCR). Seventeen differentially expressed miRNAs, including miR-199a-5p, were identified by microarray hybridization. qRT-PCR analysis confirmed the decrease in miR-199a-5p expression in keloid vs normal tissue that was detected by the microarray analysis. Mimics of differentially expressed miRNAs were then transfected into a KF cell line, and the effect of miRNA overexpression on the proliferation of KFs was assayed using the EdU assay. Compared with mock-transfected cells, KFs transfected with a miR-199a-5p mimic showed significantly lower cell proliferation and an altered cell cycle, with cells having significantly longer S and G2/M phases. The significantly lower expression of miRNA-199a-5p in keloids likely influences the cell cycle of KFs and restrains their proliferation, suggesting that miR-199a-5p probably plays a role in the regulation of KF proliferation.

Chinese patients with Huntington's disease initially presenting with spinocerebellar ataxia.

Recent studies have described Huntington's disease (HD) patients with atypical onset of ataxia. Symptoms in these patients can overlap with those of spinocerebellar ataxia (SCA). We retrospectively examined clinical data for 82 HD probands and found 7 had initially been clinically diagnosed as SCA cases. Clinical features in these patients were further investigated and the number of CAG repeats in the huntingtin (HTT) gene was determined by direct sequencing. Genetic screenings for SCAs in the 7 patients were all negative. By contrast, HTT was heterozygous in each patient. The distribution of CAG number in the 7 patients was statistically the same as that in the other 75 patients. Each of 7 HD patients had presented with atypical onset of ataxia. The mean time from onset to HTT genetic testing was 5.6 ± 5.52 years. Three of the patients developed chorea, but the others did not. Our observations confirm the clinical heterogeneity of HD in Han Chinese. Based on these findings, testing for HTT expansions should be considered for clinically diagnosed SCA patients who test negatively in genetic screening of SCA genes.

Investigating the prognostic value of constructing disulfidptosis-related gene models for lung adenocarcinoma patients.

OBJECTIVE: Disulfidptosis is a novel mode of cell death, a programmed mode of intracellular disulfide accumulation due to solute carrier family 7 member 11 (SLC7A11)-mediated abnormalities in the cell membrane cystine transport system. Numerous studies have confirmed the prominent role played by SLC7A11 in tumors, but the involvement of SLC7A11 as an important mediator of disulfidptosis in the death process of lung adenocarcinoma cells remains unclear. MATERIALS AND METHODS: We obtained 4,107 SLC7A11-related genes and analyzed them using a total of 1,040 lung adenocarcinoma transcriptome sequencing data from The Cancer Genome Atlas (TCGA) cohort and GEO (Gene Expression Omnibus) cohort and 991 relevant clinical data. First, we screened for differential genes and identified molecular subtypes for assessing characteristic differences between lung adenocarcinoma subtypes under the influence of SLC7A11-associated genes. Then, risk score models were constructed to assess the prognosis, immune infiltration, tumor microenvironment, and drug treatment effects in lung adenocarcinoma patients. Finally, we also analyzed the distribution of cell types and expression of characteristic genes within the tumor using a single-cell database. In addition, relevant drug sensitivities were predicted. RESULTS: We screened 956 genes with significant differences and identified 2 molecular subtypes and found significant differences in their prognosis and that subtype B had a significantly better survival prognosis than subtype A. In addition, we found that pathways associated with cell proliferation division and DNA repair were enriched in the high-risk type A samples. Finally, we constructed a robust risk-scoring system, and our risk analysis revealed a general reduction of various immune cell components and tumor stromal components in the immune microenvironment of high-risk lung adenocarcinoma and a distinct immune infiltration pattern of immune cells, which was associated with a lower survival rate. CONCLUSIONS: Our comprehensive analysis of SLC7A11-related genes suggests that disulfidptosis has a potential value in the tumor microenvironment, immunity, clinical outcome, and prognosis of lung adenocarcinoma. These findings may increase our understanding of disulfidptosis as a novel cell death paradigm and provide ideas for assessing the prognosis of lung adenocarcinoma and developing new diagnostic and therapeutic strategies.

The prognostic value and immune landscapes of m1A/m5C/m6A-associated lncRNA signature in osteosarcoma.

OBJECTIVE: RNA methylation modifications, mainly including N1-methyladenosine (m1A), 5-methylcytosine (m5C), and N6-methyladenosine (m6A), are widely existed in osteosarcoma and involved in the biological processes of cancers. However, there is still no study regarding the relationship between osteosarcoma and m1A/m5C/m6A-associated long non-coding RNAs (lncRNAs). PATIENTS AND METHODS: Here, expression data of osteosarcoma from the Therapeutically Applicable Research to Generate Effective Treatments (TARGET) database were retrieved to identify ER-related lncRNAs associated with the overall survival (OS) of osteosarcoma patients. Then, Lasso penalized Cox regression analysis was applied to construct a lncRNAs risk signature. Meanwhile, patients were stratified into two clusters based on the identified m1A/m5C/m6A-associated lncRNAs. The prognostic value and immune landscape of the identified signature and clusters were further evaluated. RESULTS: Two m1A/m5C/m6A-associated lncRNAs were incorporated into our risk signature. The functional analyses indicated that the prognostic model was correlated with patient survival, and cancer metastasis and growth. Meanwhile, the signature model was significantly associated with the infiltration of immune cells, immune microenvironment, as well as several immune checkpoint genes. Similar results were detected for the lncRNAs clusters, which were significantly correlated with immune infiltration, cancer microenvironment, and immune-associated genes, and contributed to predicting the prognosis of patients. Moreover, our risk signature and clusters might help guide the application of immunotherapeutic drugs for osteosarcoma patients. Finally, a nomogram based on the risk score was established. CONCLUSIONS: Overall, a risk signature based on two m1A/m5C/m6A-associated lncRNAs was generated and presented predictive value for the prognosis and immune landscapes of osteosarcoma patients. This signature can be further used in the development of novel therapeutic strategies for osteosarcoma.

Connective tissue growth factor expression in precancerous lesions of human esophageal epithelium and prognostic significance in esophageal squamous cell carcinoma.

Connective tissue growth factor (CTGF, CCN2), a secreted protein, is involved in the development and progression of esophageal squamous cell carcinoma (ESCC). However, it remains unclear how CTGF expression affects the progression of ESCC. Our study implicated differences of CTGF protein status in precancerous lesions, and retrospectively examined the associations of CTGF mRNA and protein levels with clinical prognosis in ESCC patients. Here immunohistochemistry and the quantitative real-time real-time reverse transcription polymerase were performed for predicting the CTGF protein status and mRNA levels in ESCC patients, respectively. Different degrees of CTGF protein status presented in normal human esophageal epithelium and precancerous lesions, and CTGF protein was highly expressed in ESCCs. Survival analysis showed that CTGF protein status was significantly related to poor survival of ESCC patients (P= 0.024), while no significant difference was observed between CTGF mRNA levels and the survival of ESCC patients (P= 0.196). Multivariate Cox analysis demonstrated that CTGF protein status was the independent factor in prognosis of ESCC patients. In that way, CTGF protein status might elevate the progression of ESCC, and would be significant for the diagnosis of precancerous lesions or early ESCC.

Identification of a pyroptosis-associated long non-coding RNA signature for predicting the immune status and prognosis in skin cutaneous melanoma.

OBJECTIVE: Pyroptosis is correlated with programmed tumor cell death and the tumor microenvironment. However, the prognostic value of pyroptosis-associated long non-coding RNAs (lncRNAs) in skin cutaneous melanoma (SKCM), a malignant tumor with a poor prognosis, has not been established. PATIENTS AND METHODS: In this study, expression profiles and clinical data of patients with SKCM were downloaded from The Cancer Genome Atlas (TCGA) database to identify differentially expressed pyroptosis-related lncRNAs related to overall survival. A lncRNA risk signature was constructed by Cox regression analyses and its prognostic value was evaluated. Associations between the lncRNA signature and immune status, immune microenvironment, tumor stemness, immune checkpoints, and m6A-related genes were further evaluated. RESULTS: Twenty-two pyroptosis-related lncRNAs were identified and incorporated into a prognostic risk signature. The signature was significantly correlated with overall survival, tumor growth, and metastasis in SKCM. The signature demonstrated better diagnostic accuracy than conventional clinicopathological characteristics. A gene set enrichment analysis indicated that the risk signature was enriched in several immune-related pathways. Furthermore, the risk signature was significantly correlated with the immune microenvironment, immune cell infiltration, and immune subtypes, as well as tumor stem cells and some m6A-related genes. The lncRNA expression levels were also significantly related to responses to several anti-tumor drugs. Finally, a nomogram based on the risk score was established. CONCLUSIONS: Overall, a risk signature based on 22 pyroptosis-associated lncRNAs was generated, providing a novel perspective on the determinants of prognosis and survival in SKCM and a basis for the development of individualized treatments.

Correlation between MRAS gene polymorphism and atherosclerosis.

OBJECTIVE: The aim of this study was to explore the correlation between muscle RAS oncogene homolog (MRAS) gene polymorphism and the onset risk of atherosclerosis (AS). PATIENTS AND METHODS: A total of 135 AS patients diagnosed and treated in our hospital from November 2017 to October 2018 were randomly enrolled in the observation group. Meanwhile, 150 healthy adults were selected as control group. Venous blood was withdrawn from all the subjects, and DNAs were extracted. MRAS gene loci rs9818870 and rs3755751 were analyzed by the multiplex SNaPshot method, and their correlations with the onset risk of AS were explored. RESULTS: No statistically significant differences in the frequencies at gene loci were observed between the two groups (p>0.05). Subjects with genotype TT at rs9818870 exhibited significantly higher risk of AS (p=0.041<0.05). The recessive model of rs9818870 (GG + AG/AA) in AS patients with coronary heart disease was correlated with AS (p=0.048<0.05). Similarly, the dominant model of rs3755751 (TT/TC+CC) in those with hypertension was associated with AS (p=0.027<0.05). CONCLUSIONS: MRAS gene is correlated with the onset of AS to a certain degree.

Chinese patients with Machado-Joseph disease presenting with complicated hereditary spastic paraplegia.

BACKGROUND AND PURPOSE: The clinical overlap between Machado-Joseph disease (MJD) and autosomal dominant complicated hereditary spastic paraplegia (AD-HSP) is extensive and the differentiation between them can be difficult on clinical ground. However, patients are seeking the right diagnosis and it is important for neurologists to distinguish them in the early stage. METHODS: In recent 10 years, we have recruited and followed-up three families which were initially diagnosed as complicated AD-HSP based on the clinical criteria. Mutation analyses of SPG4, SPG3A and ATXN3 were performed in the index cases. RESULTS: No mutations on SPG4 and SPG3A were found. Mutation analysis of ATXN3 showed that these cases have one expanded allele and one normal allele. The copy numbers of CAG repeats were 80/28, 86/28 and 83/33, respectively. CONCLUSIONS: The molecular diagnosis confirmed that they were MJD patients though they had been misdiagnosed as complicated AD-HSP for many years. The copy numbers of expanded allele were more than 80 and the copy numbers of normal allele were more than 27, which could somewhat explain the earlier onset age of these cases and the anticipation of the pedigrees. Our data emphasize the necessity to perform the mutation analysis of ATXN3 in clinically diagnosed complicated AD-HSP patients.

Expression of miR-29 and STAT3 in osteosarcoma and its effect on proliferation regulation of osteosarcoma cells.

OBJECTIVE: STAT3 has been shown to be involved in the occurrence, progression, and resistance of various tumors. The abnormal expression of miR-29 is associated with the pathogenesis of osteosarcoma. The bioinformatics analysis showed a targeting relationship between miR-29 and STAT3 3'-UTR. This study investigated whether miR-29 regulates the STAT3 expression and affects the proliferation and apoptosis of osteosarcoma cells. PATIENTS AND METHODS: The tumor tissues of osteosarcoma patients were collected, and the adjacent tissues were used as controls to detect the expression of miR-29 and STAT3. The Dual-Luciferase Gene Reporter Assay validated the regulatory relationship between miR-29 and STAT3. The expression of miR-29 and STAT3 in normal osteoblasts hFOB1.19, osteosarcoma SJSA-1, and MG-63 was measured. SJSA-1 cells were divided into miR-NC group and miR-29 mimic group. Cell apoptosis and proliferation were detected by flow cytometry. RESULTS: Compared with adjacent tissues, miR-29 expression was decreased, and STAT3 expression was increased in osteosarcoma. There was a targeted regulation relationship between miR-29 and STAT3. Compared with hFOB1.19 cells, miR-29 expression in osteosarcoma SJSA-1 and MG-63 cells was decreased, with increased STAT3 expression. The transfection of miR-29 mimic significantly decreased the expression of STAT3 and p-STAT3 in SJSA-1 cells, inhibited cell proliferation, and increased cell apoptosis. CONCLUSIONS: Decreased miR-29 expression plays a role in the increase of the STAT3 expression and in the promotion of the pathogenesis of osteosarcoma. Increasing the expression of miR-29 can inhibit the proliferation of osteosarcoma cells and promote apoptosis by decreasing STAT3 expression.

MiR-96-5p promotes the proliferation, invasion and metastasis of papillary thyroid carcinoma through down-regulating CCDC67.

OBJECTIVE: MicroRNAs (miRNAs) have been identified to play an important regulatory role in various biological behaviors of papillary thyroid carcinoma (PTC). However, the specific role and function of miR-96-5p in PTC remain unclear. Therefore, the aim of this study is to detect the expression of miR-96-5p in PTC, and to explore its exact function. PATIENTS AND METHODS: The relative expression level of miR-96-5p in PTC tissues and cell lines was detected by quantitative Real Time-Polymerase Chain Reaction (qRT-PCR). MiR-96-5p mimics or inhibitors were then constructed and transfected into cells to upregulate or downregulate miR-96-5p expression. MTT (3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyl tetrazolium bromide) assay and colony formation assay were employed to evaluate the proliferation of PTC cells. Meanwhile, transwell assay was employed to detect the invasion and metastasis of PTC cells. In addition, the underlying mechanism of miR-96-5p was identified by Luciferase reporter gene assay and Western blot analysis. RESULTS: The expression of miR-96-5p in PTC tissues and PTC-derived cell lines was significantly higher than that of normal controls. The overexpression of miR-96-5p remarkably promoted the proliferation, invasion and migration of PTC cells. However, knockdown of miR-96-5p significantly decreased cell growth and metastasis. CCDC67 was verified as a target gene of miR-96-5p in PTC. Further experiments demonstrated that the restoration of CCDC67 could significantly reduce the carcinogenic function of miR-96-5p. CONCLUSIONS: MiR-96-5p was remarkably upregulated in PTC tumor tissues and cells. In addition, it promoted cell growth, invasion, and migration via repressing CCDC67 expression.

Handgrip strength is associated with dyspnoea and functional exercise capacity in male patients with stable COPD.

Handgrip strength (HGS) is widely used to evaluate nutrition and adverse outcomes in several diseases. However, the relationship between HGS and the parameters of chronic obstructive pulmonary disease (COPD) are not known. To evaluate HGS in male patients with stable COPD, and to assess its correlation with dyspnoea and functional exercise capacity. We recruited 116 male out-patients with stable COPD from a general hospital in China between February and December 2017. For each patient, we recorded demographic characteristics and measured pulmonary function, dyspnoea, exercise capacity, body composition and HGS. HGS had a significantly positive correlation with muscle mass, lung function, and 6-min walking distance (6MWD) and a negative correlation with the modified Medical Research Council dyspnoea score. Multiple linear regression analysis showed that combining age, fat-free mass (FFM), 6MWD and duration of COPD accounted for 43.1% of the total variance in HGS. HGS was correlated with dyspnoea and exercise capacity. Aging and disease could alter upper limb muscle strength in COPD patients. Hence, HGS might be a simple method for assessing muscle function and for identifying patients with a noticeable reduction in HGS, who will need early, multidisciplinary intervention. .