The effect of sleep problems on core self-evaluations in undergraduate nursing students and the role of emotion regulation and resilience: A cross-sectional study.

BACKGROUND: Nursing students are prone to sleep problems that affect their core self-evaluations. However, little attention has been paid to the specific roles of emotion regulation (including cognitive reappraisal and expressive suppression) and resilience in this process. OBJECTIVES: This study aimed to explore 1) the direct effect of sleep problems on core self-evaluations among nursing students; 2) the chain-mediating effect of cognitive reappraisal and resilience on the relationship between sleep problems and core self-evaluations; 3) the moderating effect of expressive suppression on the direct relationship between sleep problems and core self-evaluations; and 4) the moderating effect of expressive suppression on the indirect relationship between sleep problems affecting core self-evaluations through resilience. METHODS: A total of 345 nursing students completed a survey conducted between September and October 2022. Data was analyzed using descriptive analysis, Fisher exact test, Kruskal-Wallis H test, Spearman correlation analysis, and hierarchical regression analysis. Additionally, the SPSS PROCESS V4.0 plug-in was used to verify the moderated chain-mediating effect. RESULTS: Sleep problems directly affected core self-evaluations among nursing students. Cognitive reappraisal and resilience played a partial chain-mediating role in the relationship between sleep problems and core self-evaluations, with expressive suppression having a direct moderating effect. CONCLUSIONS: Opportunities exist for enhancing the core self-evaluations of nursing students by addressing their sleep problems, promoting cognitive reappraisal strategies, and increasing resilience. Additionally, encouraging expressive suppression can mitigate the negative impact of sleep problems on nursing students' core self-evaluations.

Analysis of Diagnosis and Treatment Strategies for Primary Juvenile Psammomatoid Ossifying Fibroma Complicated With Primary Aneurysmal Bone Cyst.

BACKGROUND: Juvenile Psammomatoid Ossifying Fibroma (JPOF) is a type of noncancerous bone tumor that usually affects adolescents in the craniomaxillofacial area. Clinical manifestations are usually symptoms caused by the tumor's invasive compression of surrounding tissues. Aneurysmal Bone Cyst (ABC) is also a benign bone tumor, and it typically occurs in long bones and the spine. Only 2% to 3% of cases occur in the head and neck. Due to the rarity of this combination of clinical cases, clinicians face difficulties in comprehensively understanding this complex lesion. Therefore, a comprehensive review of the clinical manifestations and characteristic imaging findings is necessary for surgeons. CASE PRESENTATIONS: On April 6, 2019, a 13-year-old boy presented with left maxillofacial bulge and pain for 1 month. Magnetic resonance imaging of the paranasal sinuses showed an irregular hive-like mass signal in the left maxillary sinus, and cystic changes with fluid levels were seen in the lesion. After the initial diagnosis of JPOF with primary ABC, we decided to perform a facial mid-facial resection of maxillary sinus tumor to remove the tumor tissue. Finally, after 3 recurrences and 4 operations, there was no tumor recurrence for 20 months after the last operation, and the patient was still under continuous follow-up. CONCLUSIONS: This case provided a reference for the diagnosis and treatment of JPOF combined with ABC. In particular, a new understanding of the association between the two diseases and the management of recurrence were proposed, which had the potential to improve clinical understanding of this complicated condition.

Factors associated with human papillomavirus persistence after loop electrosurgical excision procedure in patients with cervical squamous intraepithelial lesion.

AIM: To seek the high-risk factors of human papillomavirus (HPV) persistence and residual lesion or recurrence after loop electrosurgical excision procedure (LEEP) focus on the predictive value of intraoperative human papilloma virus (IOP-HPV) testing. METHODS: Intraoperative endocervical sample was obtained with a cytobrush from the remained cervix of 292 patients immediately after LEEP. HPV Genotyping was performed using a polymerase chain reaction technique. All patients followed by HPV genotyping and cytology every 3-6 months. The IOP-HPV testing results and possible risk factors such as age, cytology grade, menopause status, margin involvement, preoperative HPV status, and cervical lesion grade were assessed in predicting persistence of HPV and residual lesion or recurrence after surgery. RESULTS: There were 61 (20.9%) patients presented persistent HPV infection. Multivariate analyses showed that IOP-HPV positive, post-menopause and preoperative HPV multiplex infection was strongly associated with HPV persistence after LEEP, IOP-HPV positive and post-menopause was also associated with residua or recurrent disease after LEEP. CONCLUSIONS: IOP-HPV positive, post-menopause, and preoperative HPV multiplex infection are independent predictors of HPV persistence in patients with cervical squamous intraepithelial lesion treated by LEEP. IOP-HPV test is a new approach that may potentially allow for early identification of patients at high risk of HPV persistence and residua or recurrent disease after LEEP, thereby possibly facilitate an attenuated follow-up schedule for negative patients those at low risk of persistent HPV infection.

Blood Eosinophil Percentage and Improved Sinus CT Score as Diagnostic Tools for ECRS.

Objective: Differentiating 2 types of chronic rhinosinusitis with nasal polyps (CRSwNP) is important for the treatment. The current diagnostic methods using single indicators, including peripheral blood eosinophils and traditional sinus computed tomography (CT) scores, are not accurate. In this study, we aimed to investigate the diagnostic value of combining peripheral blood eosinophils and improved sinus CT scores for eosinophic chronic rhinosinusitis (ECRS). Study Design: Retrospective cohort. Setting: Tertiary medical center. Methods: We conducted a study involving 81 patients with CRSwNP. Peripheral blood samples were collected from the non-ECRS and ECRS groups. Improved three-dimensional volume image analysis and Lund-Mackay scoring system were performed to quantify the thickening of sinus mucosa. Multivariate binary logistic regression analysis was carried out to detect the predictive value of the scoring indicators. For significant indexes, receiver operating characteristic (ROC) curve analysis was applied. Results: The ECRS group had higher levels of blood eosinophil percentage and count, ethmoid sinus score, total sinus score, the ratio of ethmoid sinus score and maxillary sinus score, and the difference between ethmoid and maxillary score, compared to the non-ECRS group (P < 0.05). Binary logistic regression analysis demonstrated that both blood eosinophil percentage and the improved E - M score (subtraction of ethmoid and maxillary sinus scores) were significant predictors of ECRS diagnosis (P < .01). ROC curve analysis indicated that the combination of improved E - M score and blood eosinophil percentage had a higher diagnostic value compared to either factor alone (area under the curve = 0.874). Conclusion: Our study suggested the combination of improved total ethmoid sinus-maxillary score and blood eosinophil percentage is more accurate in predicting the diagnosis of ECRS.

Latent profiles of nursing students' professional identity and their relationship with stress and coping styles during clinical practicum.

AIM: This study aimed to identify the latent profiles of professional identity among nursing students and explore the factors associated with different profiles. BACKGROUND: Nursing students' professional identity is easily influenced by various factors. However, current studies mainly focused on the overall level of professional identity and its related factors, ignoring the population heterogeneity of nursing students' professional identity. DESIGN: A cross-sectional study. METHODS: A convenient sampling was used to collect data from 384 nursing students who were undergoing their clinical practicum in the affiliated hospitals of a medical university in China between January and April 2021. Data were collected using the demographic questionnaire, the nursing student internship stress scale, the simplified coping style questionnaire, and the professional identity scale for nursing students. A latent profile analysis was used to identify the latent profiles of professional identity. Kruskal-Wallis H test, analysis of variance and ordinal logistic regression were used to determine factors that were associated with different profiles of professional identity. RESULT: Nursing students' professional identity could be classified into four profiles: low professional identity, relatively low professional identity, relatively high professional identity and high professional identity. These four profiles showed unique relationships with choosing nursing voluntarily, willing to be a clinical nursing staff, stress in conflict between study and work, and positive coping styles. CONCLUSION: The majority of the nursing students were classified into profile 1 (low professional identity) and 2 ( relatively low professional identity). Nursing students' lower professional identity need to be further enhanced by improving social recognition of nurses to increase the willingness of high school graduates to choose nursing voluntarily, allocating nursing workforce rationally to increase the willingness of nursing student to be a clinical nursing staff, reducing nursing students' stress in conflict between study and work and encouraging them to adopt positive coping styles.

Cisplatin attenuates taste cell homeostasis and induces inflammatory activation in the circumvallate papilla.

Rationale: Gustation is important to several biological functions in mammals. However, chemotherapy drugs often harm taste perception in cancer patients, while the underlying mechanism is still unclear for most drugs and there is no effective way to restore taste function. This study investigated the effects of cisplatin on the taste cell homeostasis and gustatory function. Methods: We used both mice and taste organoid models to study the effect of cisplatin on taste buds. Gustometer assay, gustatory nerve recording, RNA-Sequencing, quantitative PCR, and immunohistochemistry was performed to analyze the cisplatin-induced alteration in taste behavior and function, transcriptome, apoptosis, cell proliferation and taste cell generation. Results: Cisplatin inhibited proliferation and promoted apoptosis in the circumvallate papilla, leading to significant impairment in taste function and receptor cell generation. The transcriptional profile of genes associated with cell cycle, metabolic process and inflammatory response was significantly altered after cisplatin treatment. Cisplatin inhibited growth, promoted apoptosis, and deferred taste receptor cell differentiation in taste organoids. LY411575, a γ-secretase inhibitor, reduced the number of apoptotic cells and increased the number of proliferative cells and taste receptor cells, potentially suggesting as a taste tissue protective agent against chemotherapy. LY411575 treatment could offset the increased number of Pax1+ or Pycr1+ cells induced by cisplatin in the circumvallate papilla and taste organoids. Conclusion: This study highlights the inhibitory effects of cisplatin on taste cell homeostasis and function, identifies critical genes and biological processes regulated by chemotherapy, and proposes potential therapeutic targets and strategy for taste dysfunction in cancer patients.

Psychometric properties of the post-stroke depression scale in the sequelae stage.

Aim: To evaluate the psychometric properties of the Post-Stroke Depression Scale in the Sequelae Stage (PSDS-SS). Background: The incidence of the sequelae stage Post-Stroke Depression (PSD) is high, and the best screening tools are still lacking. Under this circumstances, our research team developed the PSDS-SS by Delphi method, but its psychometric properties need to be further verified. Method: This was a cross-sectional study. Seven hundred and sixteen stroke patients in the sequelae stage were enrolled by purpose sampling from May 2022 to September 2022. The exploratory factor analysis (EFA) and confirmatory factor analysis (CFA) were used to verify the factor structure of the scale. The reliability of the scale was tested by Cronbach's α coefficient, test-retest reliability and composite reliability. The validity of the scale was tested by criterion-related validity, convergent and discriminant validity. Result: Eight items were deleted through item analysis. The EFA ended up with a 5-factor scale including 24 items after removing one item with low factor loading. Finally, a 21-item model was established by confirmatory factor analysis, and all the fit indexes were acceptable. The reliability and validity of the total scale and each factor are acceptable. Conclusion: The PSDS-SS has a stable factor structure, and demonstrated good reliability and validity. And it would be an effective tool to assess PSD in the sequelae stage.

A Systematic Review and Meta-analysis of the Effects of Topical Tranexamic Acid versus Topical Vasoconstrictors on the Management of Epistaxis.

OBJECTIVE: We aimed to evaluate the effectiveness of topical tranexamic acid (TXA) versus topical vasoconstrictors in the management of epistaxis via a systematic review and meta-analysis. METHODS: The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) standards were followed for the meta-analysis. We systematically searched Embase, Web of Science, Cochrane Library, CNKI, and PubMed for randomized controlled trials (from inception to August 2022; no language restrictions), comparing the effect of topical TXA and topical vasoconstrictors on the treatment of epistaxis. The Q test was used to evaluate heterogeneity, and funnel plots were utilized to identify bias. For the meta-analysis, the fixedeffects model was employed, and the t-test was utilized to determine significance. RESULTS: Of 1012 identified studies, 5 were found to be eligible for our analysis. In total, 598 patients were included; 297 of them received TXA and 301 received vasoconstrictors. Hemostasis was more likely to be achieved at the first re-assessment in patients treated with TXA. Subgroup analysis indicated patients treated with TXA to have less likelihood of bleeding recurrence, compared to patients treated with vasoconstrictors. The detected time interval of rebleeding was 10 min, between 24 h to 72 h, and after 7 days, respectively, and the differences were significant between the two groups of patients treated with TXA and vasoconstrictors. CONCLUSION: Topical TXA was associated with better post-treatment hemorrhagic arrest rates compared to topical vasoconstrictors in the management of epistaxis.

Associations between sleep disorders and anxiety in patients with tinnitus: A cross-sectional study.

Objective: To investigate the characteristics of sleep disorders and anxiety in patients with tinnitus, their influencing factors, and the role of sleep disorders as mediators. Methods: The general conditions and disease characteristics of 393 patients with tinnitus presented to the Changzheng Hospital of the Naval Medical University from 2018 to 2021 were collected. All patients accepted questionnaires such as Tinnitus Handicap Inventory (THI), Pittsburgh Sleep Quality Index (PSQI) and Self-rating Anxiety Scale (SAS), and then the characteristics and the influencing factors of sleep disorders and anxiety were analyzed. Results: Among the 393 tinnitus patients, 213 cases (54.19%) were diagnosed with sleep disorders, and 78 cases (19.85%) were diagnosed with anxiety, including 25 men (32.1%) and 53 women (67.9%). Binary regression showed that gender, hearing loss, tinnitus severity, and sleep disorders severity were positively associated with anxiety. Multiple logistic regression analysis showed that female gender (OR = 2.526, P = 0.008), hearing loss (OR = 2.901, P = 0.003, tinnitus severity (OR = 1.863, P = 0.003) and sleep disorders (OR = 2.510, P = 0.001) were the independent risk factors of anxiety. The mediating effect of sleep disorders between tinnitus severity and anxiety accounted for 27.88% of the total effect size. Conclusion: Females patients with hearing loss, moderate to severe tinnitus, and sleep disorders were at greater risk for anxiety, with sleep disorders partially mediating the anxiety associated with tinnitus.

Regulatory Role of miRNAs and lncRNAs in Gout.

Objective: To explore the regulatory functions of ceRNA networks in the nosogenesis of gout and search for potential therapeutic targets. Methods: We searched the GEO database and downloaded the lncRNA microarray chipset GSE160170. This matrix series was analyzed to yield differentially expressed lncRNAs and mRNAs. Then, the correlations between lncRNAs and miRNAs were obtained by comparing the highly conserved miRNA families. The predicted miRNA-regulating mRNAs were matched to the differentially expressed mRNAs from the chipset analyses to obtain miRNA-mRNA interactions. Next, we used the Cytoscape software to model ceRNA networks and the STRING database to determine their protein-protein interactions. The R software was used to algorithmically screen the functional pathways of key PPI modules in the ceRNA networks. Results: A total of 354 lncRNAs (140 downregulated and 214 upregulated) and 693 mRNAs (399 downregulated and 294 upregulated) were differentially expressed between the gout group and the healthy group. The ceRNA network of differentially expressed lncRNAs contained 86 lncRNAs (35 downregulated and 51 upregulated), 29 miRNAs, and 57 mRNAs. The processes identified in the GO enrichment analysis included gene transcription, RNA polymerase II transcription, and the regulation of cell growth and apoptosis. The pathways identified in the KEGG enrichment analysis included IL-17, TNF, and MAPK signaling. Nine lncRNAs (AC104024, AC084082, AC083843, FAM182A, AC022819, FAM215B, AP000525, TTTY10, and ZNF346-IT1), eleven miRNAs (hsa-miR-1297, hsa-miR-17-5p, hsa-miR-429, hsa-miR-139-5p, hsa-miR-449c-5p, hsa-miR-125a-5p, hsa-miR-125b-5p, hsa-miR-23b-3p, hsa-miR-217, hsa-miR-363-3p, and hsa-miR-20b-5p), and nine mRNAs (JUN, CASP2, PMAIP1, FOS, TNFAIP3, MAP3K8, BTG2, NR4A2, and DUSP2) were identified in the exploration of the key modules. Conclusion: Characterization of ceRNA networks could be a promising approach for better understanding the pathogenesis of gout, with the TTTY10/hsa-miR-139-5p/AP-1 axis likely to be of clinical significance.

Development and validation of the Health Education Adherence Scale for Stroke Patients: a cross-sectional study.

BACKGROUND: Due to the lack of health education adherence assessment tools for stroke patients, the assessment of health education adherence in this population is insufficient, which hinders the prevention and rehabilitation of stroke. This study aims to develop and validate a Health Education Adherence Scale for Stroke Patients (HEAS-SP). METHODS: A cross-sectional design with a purposive sampling method was used for this study. Six hundred and fifty-four eligible participants completed the demographic questionnaire and the HEAS-SP. The data collection lasted for 7 months, from March 1stto September 30th in 2019. Item analysis and exploratory and confirmatory factor analysis were employed to develop and validate the HEAS-SP. RESULTS: The item analysis, exploratory and confirmatory factor analysis resulted in a 20-item HEAS-SP with 4 domains: medication adherence, diet adherence, rehabilitation exercise adherence, and healthy lifestyle adherence. The four-domain model demonstrated acceptable model fit indexes and the 20-item HEAS-SP demonstrated acceptable reliability and validity. CONCLUSION: The 20-item HEAS-SP was shown to have acceptable reliability and validity for assessing health education adherence with respect to diet, medication, rehabilitation exercise and healthy lifestyle in stroke patients, making it a potential basis for developing targeted interventions for stroke patients.

Associations of CYP2C19 and F2R genetic polymorphisms with platelet reactivity in Chinese ischemic stroke patients receiving clopidogrel therapy.

OBJECTIVES: Genetic variation has been considered a major contributor to the high variability in the response to dual antiplatelet therapy in patients with acute ischemic stroke or transient ischemic attack. Recently, incidences of ischemic stroke are increasing rapidly in China. We aimed to evaluate the influence of potential determinants on the response of antiplatelet therapy and adverse events in Chinese ischemic stroke patients receiving clopidogrel-aspirin treatment. METHODS: Based on the clopidogrel drug response pathway and the coagulation and anticoagulation function, we systematically selected 34 genetic polymorphisms in 12 candidate genes. Three hundred and eight patients were divided into 2 groups according to their degree of inhibition of platelet aggregation. Multivariate analysis was then performed to assess the influence of demographic, clinical and genetic factors on platelet reactivity in Chinese ischemic stroke patients. RESULTS: We found that polymorphisms in CYP2C19 and F2R genes were still significantly associated with platelet reactivity in Chinese ischemic stroke patients (P = 0.037 and 0.015). The newly identified rs168753 in F2R gene may influence the efficacy to clopidogrel-aspirin therapy for ischemic stroke patients. We also found that ischemic stroke patients with low level of inhibition of platelet aggregation had higher risk of recurrent ischemic events (P = 0.001). CONCLUSIONS: Together, these results emphasized the necessity of genotype-directed antiplatelet therapy and facilitated to minimize adverse ischemic events.

Highly Accurate and Fast Electrochemical Detection of Scrub Typhus DNA via a Nanoflower NiFe-Based Biosensor.

Owing to the lack of specific diagnostic methods, Scrub typhus can sometimes be difficult to diagnose in the Asia-Pacific region. Therefore, an efficient and rapid detection method urgently needs to be developed. Based on competitive single-stranded DNA over modified glassy carbon electrode (GCE), an electrochemical biosensor was established to detect the disease. The nano-flower NiFe layered double hydroxide (NiFe-LDH) modified GCE has a large specific surface area, which supported a large amount of gold nanoparticles, so that a wide linear detection range from 25 fM to 0.5 µM was obtained. The beacon DNA (B-DNA) with the same sequence as the Scrub typhus DNA (T-DNA), but labeled with methylene blue, was used to construct a competitive relationship. When T-DNA and B-DNA were present on the sensor simultaneously, they would hybridize with probe DNA in a strong competition, and the corresponding electrochemical response signal would be generated via testing. It contributed to reducing tedious experimental procedures and excessive response time, and achieved fast electrochemical detection of DNA. The strategy provides a worthy avenue and possesses promising applications in disease diagnosis.

Genetic Associations With Stable Warfarin Dose Requirements in Han Chinese Patients.

ABSTRACT: Warfarin is a commonly prescribed anticoagulant for valvular heart disease that plays an important role in clinical management to prevent thrombotic events. In this study, we aim to perform a comprehensive study to investigate the genetic biomarkers of stable warfarin dose in the Han Chinese population. We performed an integrative study on 211 Han Chinese patients with valvular heart disease. A total of 40 single nucleotide polymorphisms (SNPs) in 10 important genes (CYP2C9, VKORC1, ABCB1, CYP4F2, APOE, PROC, GGCX, EPHX1, CALU, and SETD1A) which are involved in the warfarin metabolic pathway and equilibrium of coagulation and anticoagulation were selected. We applied MassARRAY technology to genotype the 40 SNPs identified in these Han Chinese patients. Our results showed that 13 SNPs on 6 genes (CYP2C9, VKORC1, ABCB1, PROC, EPHX1, and SETD1A) were associated with the individual stable warfarin dose. Two VKORC1 SNPs (rs9934438 and rs2359612) were the strongest genetic factors determining warfarin dose requirements (P = 8 × 10-6 and 9 × 10-6, respectively). Rs4889599 in SETD1A was first reported to be associated with warfarin dose at a significant level of 0.001 in our study (Padjust = 0.040 after Bonferroni correction). We discovered that genetic variants in CYP2C9, VKORC1, ABCB1, PROC, EPHX1, and SETD1A may affect the stable warfarin dose requirement in Han Chinese patients with valvular disease. The discovery of these potential genetic markers will facilitate the development of advanced personalized anticoagulation therapy in Han Chinese patients.

Circular RNA hsa_circ_0102231 sponges miR-145 to promote non-small cell lung cancer cell proliferation by up-regulating the expression of RBBP4.

Circular RNAs (circRNAs) are important regulators in various cancers. Previous studies have found that hsa_circ_0102231 is an oncogene in lung adenocarcinoma. Here, we investigated its mechanism in the development of non-small cell lung cancer (NSCLC). We detected the levels of hsa_circ_0102231 in five NSCLC cell lines and one normal bronchial epithelium cell line. The interaction between hsa_circ_0102231 and miR-145 was predicted and confirmed by pull-down and luciferase assays. The nuclear mass separation assay and fluorescence in situ hybridization were used to detect the distribution of hsa_circ_0102231. Cell Counting Kit-8 and Transwell assays were used to assess the cell proliferative and invasive ability. Western blot and RT-qPCR, respectively, detected the protein and mRNA levels of RBBP4. The RBBP4 promoter activity was detected with a luciferase assay. We found that hsa_circ_0102231 level was higher in NSCLC cells. hsa_circ_0102231 is mainly localized to the cytoplasm. hsa_circ_0102231 promotes NSCLC cell proliferation and invasion by sponge for miR-145. miR-145 significantly decreases the RBBP4 promoter activity, and its mRNA and protein levels. RBBP4 is an oncogene to promote proliferation and invasion ability. Our findings suggest that hsa_circ_0102231 promotes proliferation and invasion by mediating the miR-145/RBBP4 axis in NSCLC, indicating that it might be a potential target for NSCLC treatment.

A novel electrochemical biosensor for ultrasensitive Hg2+ detection via a triple signal amplification strategy.

We developed a novel electrochemical biosensor for ultrasensitive Hg2+ detection via a triple signal amplification strategy of a DNA dual cycle, organic-inorganic hybrid nanoflowers (Cu3(PO4)2 HNFs) and gold nanoparticle (AuNP) probe. The DNA dual cycle was triggered by exonuclease III (Exo III) in the presence of Hg2+, and Cu3(PO4)2 HNFs were synthesized as an AuNP probe carrier. The electrochemical biosensor displayed high stability, high sensitivity and excellent specificity, which was improved by up to seven orders of magnitude compared to the World Health Organization (WHO) allowed Hg2+ levels in drinking water. This signal amplification strategy could be easily modified and extended to detect other hazardous heavy metals and nucleic acids.

Serum homocysteine levels and their association with clinical characteristics of inflammatory arthritis.

OBJECTIVE: The aim of our study was to explore the serum levels of homocysteine (Hcy) and its association with clinical characteristics in patients with different types of inflammatory arthritis. METHODS: A total of 242 patients diagnosed with inflammatory arthritis (which included rheumatoid arthritis (RA), ankylosing spondylitis (AS), and gout), 49 with osteoarthritis (OA), and 36 with hyperuricaemia (HUA) and 81 healthy controls (HCs) were enrolled for comparisons. RESULTS: The serum Hcy levels of patients with RA, AS, and OA were comparable with those of the HC group (P > 0.05). However, the serum level of Hcy was significantly higher in patients with gout than in HCs (18.75 ± 9.98 vs. 14.20 ± 6.22 µmol/L, P = 0.007). In addition, we found that the serum Hcy level was much higher in RA patients who received methotrexate (MTX) therapy without folic acid supplementation than in those who received MTX with folic acid supplementation (13.39 ± 4.80 vs. 9.41 ± 2.04 µmol/L, P = 0.001). Furthermore, there was a positive correlation between uric acid and Hcy in patients without uric acid-lowering treatment (r = 0.537, P = 0.002), but the correlation was eliminated after adjusting uric acid-lowering treatment (r = 0.139, P = 0.393). Finally, consistent with the above findings, hyperhomocysteinaemia (HHcy) was more common in gout patients (P < 0.05). CONCLUSION: Screening for HHcy in patients with gout and RA, especially RA patients treated with MTX, might be necessary, and patients with HHcy might benefit from earlier supplementation with folic acid. Key Points • Serum homocysteine (Hcy) was elevated and the rate of hyperhomocysteinaemia (HHcy) was significantly higher in gout. • Rheumatoid arthritis (RA) patients who received methotrexate (MTX) treatment without folic acid supplementation showed higher serum Hcy than those who received MTX treatment with folic acid supplementation. • The serum Hcy level was positively correlated with age in only RA patients. • Serum Hcy was correlated with uric acid in gout patients, but the correlation was eliminated after adjusting uric acid-lowering treatment.

Hashimoto's Encephalopathy and Seizure Disorders.

Hashimoto's encephalopathy (HE) is a rare, clinically heterogeneous condition associated with positive thyroid autoantibodies. It is increasingly recognized as an important and treatable cause of autoimmune encephalopathy. Thyroid-associated antibodies such as thyroperoxidase (TPO) antibody, thyroglobulin (TG) antibody, and thyrotropin receptor (TR) antibody were found in HE patients with seizure disorders. Although antithyroid antibodies are required for the diagnosis of HE, their role in the pathogenesis of HE remains uncertain. Instead of playing a key role in the pathophysiology processes of HE, it is suggested that thyroid-associated antibodies are hallmarks of HE. Seizure disorders were found in approximately two-thirds of HE patients, and common anticonvulsant therapy alone is usually ineffective. Some patients did not respond to any antiepileptic drugs. The use of immunotherapy can effectively control seizure disorders. Electroencephalography and imaging findings are not specific to HE patients and can also be seen in other causes of encephalopathies. However, the prognosis in the majority of patients with HE was usually good if it is diagnosed and treated correctly.

Discrepancy of QF-PCR, CMA and karyotyping on a de novo case of mosaic isodicentric Y chromosomes.

BACKGROUND: Isodicentric chromosomes are the most frequent structural aberrations of human Y chromosome, and usually present in mosaicism with a 45, X cell line. Several cytogenetic techniques have been used for diagnosing of uncommon abnormal sex chromosome abnormalities in prenatal cases. CASE PRESENTATION: A 26-year-old healthy woman was referred to our centre at 24 weeks of gestation age. Ultrasound examination indicated she was pregnant with imbalanced development of twins. Amniocentesis was referred to the patient for further genetic analyses. Quantitative Fluorescent Polymerase Chain Reaction (QF-PCR) indicated the existence of an extra Y chromosome or a structurally abnormal Y chromosome in primary amniotic cells. Chromosome microarray (CMA) analysis based on Comparative Genomic Hybridization (aCGH) platform was performed and identified a 10.1 Mb deletion on Y chromosome in 8-days cultured amniotic cells. Combined with the data of QF-PCR and aCGH, karyotyping and fluorescence in situ hybridization (FISH) revealed a mosaic cell line of 45,X[27]/46,X, idic(Y)(q11.22) [14] in fetus.The karyotyping analysis of cord blood sample was consistent with amniotic cells. The parental karyotypes were normal, which indicated this mosaic case of isodicentric Y (idicY) chromosomes of the fetus was a de novo case. CONCLUSION: Several approaches have been used for the detection of numerical and structural chromosomal alterations of on prenatal cases. Our report supported the essential role of incorporating multiple genetic techniques in prenatal diagnosing and genetic counseling of potential complex sex chromosomal rearrangements.

Study of the association between Schizophrenia and microduplication at the 16p11.2 locus in the Han Chinese population.

Copy number variants are essential in the etiology of Schizophrenia. We assessed the role of the 16p11.2 locus in the pathogenesis of Schizophrenia in the Han Chinese population. In total, 659 patients with Schizophrenia and 650 healthy controls were genotyped and followed by a meta-analysis, involving 9384 patients and 15,457 controls. We found the microduplications at the 16p11.2 locus to be strongly associated with the SZ. The frequency of this microduplication is significantly higher in Schizophrenia patients than in healthy controls. These results highlight the role of the 16p11.2 locus in the development of SZ in the Han Chinese population.