BACKGROUND:Femoral fractures easily cause damages to patient’s blood vessels and nerves. If there is no proper treatment, it is easy to result in physical disabilities in patients. Early neurovascular repair may have a positive impact on the patients. OBJECTIVE: To compare and analyze the clinical effects of early neurovascular repair on femoral fractures combined with knee joint injuries. METHODS: Eighty patients with femoral fractures combined with knee joint injuries were selected and equaly divided into control group (the injury time was > 8 hours but≤ 48 hours) and observation group (the injury time≤ 8 hours) prior to early neurovascular repair. Amputation rate and the time of femur and knee ligament healing in patients with no amputation were analyzed in the two groups, and Lysholm scores were measured to assess the knee function of patients without amputation in the two groups. RESULTS AND CONCLUSION: The amputation rate was 22% in the control group and 5% in the observation group, and there was a significant difference between the two groups (P < 0.05). The time of femoral and ligament healing in the observation group was significantly lower than that in the control group (P < 0.05). Lysholm scores were also better in the observation group than the control group (P < 0.05). These findings indicate that early neurovascular repair is preferred for patients with confirmed femoral fractures combined with knee joint injuries as soon as possible.

Objective To study the mutants of pre C/C gene and the base core premotor (BCP) in chronic hepatitis B patients carrying or not carrying hepatitis B e antigen (HBeAg). Method The HBV DNA of BCP and PreC/C ware amplified by PCR from serum samples of patients with chronic hepatitis B, and the products were cloned into T vector and sequenced. Results Of BCP variants, the double mutations of T1762/ A1764 were found in 20 of 42 patients with chronic hepatitis, and the prevalence was significantly lower in HBeAg positive patients (7/20) than in HBeAg negative patients (13/22) (P

Objective To investigate hepatic histological features and its influencing factors of HBeAg-negative chronic hepatitis B patients. Methods 134 HBeAg-negative chronic hepatitis B (CHB) patients who underwent percutaneous liver biopsy were recruited in this study. The liver biopsy sections were examined after routine haematoxylin-eosin (HE) staining, and silver staining for assessment of fibrosis. The activity of liver disease was assessed by using a modified Knodell numeric histology activity index (HAI). ALT level, HBV DNA load, HBV serological markers, HBV genotype were assessed with appropriate methods. t test or analysis of variance was used to compare means. Non-parametric was done by Kruskal-Wallis test. The correlation between liver pathological change and clinical factors was analyzed by multivariate linear regression. Results Of 134 HBeAg negative CHB patients, percentages of mild (HAI 4 ~ 8), moderate (HAI 9 ~ 12), and severe hepatitis (HAI 13 ~ 18) were 26.9%, 26.1%, and 47.0%, respectively. As for hepatic fibrosis, 18.7% and 81.3% of the patients had fibrosis score < 3 and ≥3, respectively. Multivariate regression analysis showed that ALT level and hepatic fibrosis were correlated to hepatic inflammation (t = 6.687,P < 0.01; t = 3.478, P < 0.01) while age and hepatic inflammation activity were influencing factors of hepatic fibrosis (t = 3.587, P < 0.01; t =7.136, P < 0.01). However, correlation is not significant between hepatic histological change and other factors, including gender, HBVDNA, HBV genotype and HBeAb status. Conclusions In this study, hepatic histological change tend to become worse in majority of HBeAg-negative chronic hepatitis B , especially in older patients and those with high ALT level.

We investigated the baseline brain activity level in patients with major depressive disorder (MDD) by am plitude of low-frequency fluctuation (ALFF) based on resting-state functional MRI (fMRI). We examined 13 patients in the MDD group and 14 healthy volunteers in the control group by resting-state fMRI on GE Signa 3.0T. We calculated and compared the ALFF values of the two groups. In the MDD group, ALFF values in the right medial prefrontal were higher than those in control group, with statistically significant differences (P < 0.001). ALFF values in the left parietal in the MDD group were lower than those in control group with statistically significant differences (P < 0.001). This resting-state fMRI study suggested that the alteration brain activity in the right medial prefrontal and left parietal ALFF contributed to the understanding of the pathophysiological mechanism of MDD patients.
Brain ; physiopathology ; Brain Mapping ; Case-Control Studies ; Depressive Disorder, Major ; physiopathology ; Humans ; Magnetic Resonance Imaging

OBJECTIVETo establish a peptide nucleic acid clamping PCR assay for detecting hepatitis B virus (HBV) drug resistance mutation.

METHODSRtM204I (ATT) mutant, rtM204V (GTG) mutant and rtM204 (ATG) wild-type plasmids mixed at different ratios were detected for mutations by PNA clamping PCR assay and direct sequencing, and the sensitivity and specificity of the two methods were compared. Serum samples from 85 patients with chronic HBV infection were detected for drug resistance using the two methods.

RESULTSThe sensitivity of PNA-PCR assay was 0.001% in a 10(5)-fold excess of wild-type HBV DNA with a detection limit of 10(1) copies. The sensitivity of direct sequencing was 10% with a detection limit of 10(4) copies. Mutants were detected in 73 of the 85 serum samples (85.9%), including YIDD in 40 samples, YVDD in 23 samples, and YIDD+YVDD in 10 samples. The agreement of PNA-PCR assay with direct sequencing was only 40% (34/85, YIDD in 21 samples, YVDD in 11 samples, and YIDD+YVDD in 2 samples). Neither of the two methods yielded positive results for the negative control samples, suggesting their good specificity.

CONCLUSIONPNA-PCR assay appears to be a more sensitive and rapid assay for detection of HBV genotypic resistance.

Antiviral Agents ; pharmacology ; DNA Primers ; DNA, Viral ; genetics ; Drug Resistance, Viral ; genetics ; Hepatitis B virus ; drug effects ; genetics ; Point Mutation ; Polymerase Chain Reaction ; methods

Objective:To screen the candidate genes in a patient with Kabuki syndrome (KS), providing basis for genetic counseling, prenatal screening, prenatal diagnosis and facilitating early treatment.Methods:This study included a 16-year-old female KS patient born of non-consanguineous Chinese parents who presented to Department of Orthognathic & Cleft Lip and Palate Plastic Surgery, School and Hospital of Stomatology, Wuhan University. Genomic DNA was extracted from the peripheral blood of the subjects and analyzed by whole-exome sequencing (WES). Sanger sequencing was performed to validate the mutation in the candidate gene. The conformational and physicochemical changes of the mutant were analyzed by Alphafold2, Antheprot and DOG.2.0.1, respectively. Distribution of KMT2D mutations in patients with KS was analyzed based on the Human Gene Mutation DatabaseResults:The proband manifested a typical KS facial gestalt, congenital cleft palate, fifth finger deformity, hypodontia, renal hypoplasia and hydronephrosis. Two de novo mutations c.[1166A>C; 1167dupC] (NM_003482) in cis on the same allele in the KMT2D gene were identified by WES and confirmed by allele-specific PCR. Bioinformatics analysis showed that three more α-helixes were added, and a (β-) turn and a (β-) sheet were reduced in KMT2D p. Y389S, p.V390Rfs*26 compared with the wild type. Meanwhile, the interceptive mutant-KMT2D protein p.V390Rfs*26 lost all four domains (FYRN domain, FYRC domain, SET domain, and PostSET domain), which may cause functional disabilities. Conclusions:Our study is the first to identify two novel and de novo KMT2D mutations in cis on the same allele in a KS patient and extends the KMT2D mutation spectrum of KS, providing evidence for genetic susceptibility counseling, prenatal screening and diagnosis, and early treatment of KS.

AIM: To evaluate the bioequivalence of the test and reference formulations of mycophenolate mofetil capsule in Chinese healthy male subjects under fasting and fed conditions. METHODS: This was a 2-treatment, 2-sequence, 4-period, fully replicated crossover study that included 80 Chinese healthy male subjects (40 subjects in the fasting group and 40 subjects in the fed group, respectively). Subjects were assigned to receive a single oral administration of the test or reference formulation at a dose of 0.25 g in each period. The plasma concentration of mycophenolate mofetil (MMF) and metabolite mycophenolic acid (MPA) were analyhed by LC-MS/MS. The major pharmacokinetic parameters of MMF and MPA were calculated using non-compartmental analysis by WinNonlin 8.0. The statistical analysis was performed by SAS 9.4. Average bioequivalence (ABE) analysis was applied where it has been demonstrated that the within-subject standard deviation of the reference formulation (S

Objective: To investigate the impact of immediate cessation of antiviral therapy on postpartum liver function and the factors influencing postpartum abnormality in mothers with chronic hepatitis B virus infection. Methods: A retrospective cohort study was conducted. One hundred eighty-eight pregnant women with HBV DNA level > 2×106 IU/ml were enrolled from June 2014 to June 2018. Demographic information and clinical data of liver function and HBV DNA load during gravidity, intrapartum and postpartum period were collected. According to the antiviral treatment recommendations during pregnancy, the women were divided into three groups, namely, tenofovir (TDF), telbivudine (LdT) and control group. Liver function abnormalities among the three groups were compared within 6 months after delivery, and the factors influencing abnormal liver function were analyzed by unconditional logistic regression. Results: Of the 188 cases, 72 cases were in the TDF group, 80 cases in the LdT group, and 36 cases in the control group. Pregnant women in the TDF and LdT groups received oral TDF (300 mg/d) and LdT (600 mg/d) from 28 ± 4 weeks of gestation till delivery. Among the 188 patients, 30 (16.0%) had abnormal postpartum liver function abnormality. The incidence of postpartum liver function abnormality [alanine aminotransferase (ALT) > 2 × upper limit of normal (ULN)] in the TDF, LdT, and control groups was 19.4%, 12.5%, and 16.7%, respectively. The postpartum peak levels of ALT (median, range) in the three groups were 34.5 (12.0-946.0) U/L, 37.5 (12.0-733.8) U/L, and 39.0 (7.0-513.0) U/L, respectively. There was no significant difference between the two indexes among the three groups (P > 0.05). There was no statistically significant difference in the degree of postpartum liver function abnormalities between the three groups (P = 0.944). Most of the liver function abnormalities were mild to moderate (2 × ULN≤ALT < 10 × ULN), and usually resolved spontaneously or by treatment. Univariate and multivariate analysis showed that baseline ALT level during pregnancy was an independent factor associated with postpartum liver function abnormality (OR = 1.031, CI 95%: 1.005-1.058; χ² = 5.340, P = 0.021), whereas age, antiviral therapy, HBeAg-positivity, baseline HBV DNA levels, gravidity, parity, preterm delivery and delivery mode were not significantly associated with postpartum liver function abnormality. Conclusion Cessation of antiviral therapy after delivery did not significantly increase the risk of postpartum liver function abnormality in pregnant women with chronic HBV infection. The ALT level during pregnancy is a factor influencing postpartum liver function abnormality.