Objective:To explore the clinical manifestations and genetic basis for a Chinese pedigree affected with atypical Charcot-Marie-Tooth disease type 1 A (CMT1A).Methods:A patient admitted to the Department of Neurology, Xijing Hospital Affiliated to Air Force Medical University in June 2022 was selected as the study subject. Clinical data of the patient was collected, and 17 family members from four generations of this pedigree were traced based on pes arcuatus and atypical clinical symptoms. Neuroultrasound and genetic testing were carried out on available family members. Whole exome sequencing and multiple ligation-dependent probe amplification assay were carried out for the proband and some of the affected members of the pedigree.Results:The proband, a 15-year-old male, had presented with paroxystic limb pain with weakness, accompanied by pes cavus and hypertrophy of gastrocnemius muscles, without stork leg sign caused by muscles atrophy in the distal lower extremities. MRI has revealed no sign of fat infiltration in the muscles of both legs. Nerve conduction examination had indicated damages of the sensory and motor nerves of the limbs, mainly with demyelinating changes. Seven members of the pedigree had pes arcuatus, including 5 presenting with paroxysmal neuropathic pain and myasthenia in the limbs, whilst 2 were without any clinical symptoms. Neurosonography of the proband, his brother, father and aunt showed thickened peripheral nerves of the extremities with unclear bundle structure. Genetic analysis revealed a large repeat encompassing exons 1 to 5 of the PMP22 gene and flanking regions (chr17: 15133768_15502298) in some of the affected members, which was predicted to be pathogenic. Conclusion:The duplication of PMP22 gene was considered to be pathogenic for this CMT1A pedigree.

Plant-derived nanovesicles have gained attention given their similarity to mammalian exosomes and advantages such as low cost, sustainability, and tissue targeting. Thus, they hold promise for disease treatment and drug delivery. In this study, we proposed a time-efficient method, PEG 8000 combined with sucrose density gradient centrifugation to prepare ginger-derived nanovesicles (GDNVs). Subsequently, curcumin (CUR) was loaded onto GDNV by ultrasonic incubation. The optimum conditions for ginger-derived nanovesicles loaded with curcumin (CG) were ultrasound time of 3 min, a carrier-to-drug ratio (GDNV:CUR) of 1:1. The study achieved a high loading capacity (94.027% ± 0.094%) and encapsulation efficiency (89.300% ± 0.344%). Finally, the drugs' in vivo distribution and anti-colitis activity were investigated in mice. CG was primarily distributed in the colon after oral administration. Compared to CUR and GDNV, CG was superior in improving disease activity, colon length, liver and spleen coefficients, myeloperoxidase activity, and biochemical factor levels in ulcerative colitis (UC) mice. In addition, CG plays a protective role against UC by modulating serum metabolite levels and gut flora. In summary, our study demonstrated that GDNV can be used for CUR delivery with enhanced therapeutic potential.

Objective:To summarize the clinical features and pathological changes of peripheral tissues from patients with neuronal intranuclear inclusion disease (NIID) diagnosed by genetic tests.Methods:Repeat-primed polymerase chain reaction was used to confirm the GGC repeated expansion in the 5′ untranslated region of the NOTCH2NLC gene in patients with suspected NIID who had visited the Department of Neurology of Peking University First Hospital from January 2018 to February 2020. The clinical data and pathological changes of peripheral tissues from patients with genetically diagnosed NIID were collected retrospectively and analysed. Immunostaining with anti-p62 and anti-ubiquitin antibody was performed on peripheral biopsy specimens.Results:Totally nine patients with NIID who had GGC repeated expansion in the NOTCH2NLC gene were found. Five patients were familial (from three faimilies), and four patients were sporadic. The age of onset was 36-61(51.33±7.12) years. The most common symptoms in this NIID group were episodic emotion and personality change (8/9), paroxysmal disturbance of consciousness (6/9) and intermitant head discomfort (6/9). Other symptoms included cognitive dysfunction, limb weakness, limb sensory disturbance, bladder dysfunction, ataxia, seizures and psychiatric symptoms. Brain magnetic resonance imaging showed high signals along the corticomedullary junction on diffusion-weighted image in eight out of nine patients. Skin biopsied samples from nine patients demonstrated the presence of eosinophilic intranuclear inclusions (IIs), appearing in the nucleus of fibroblasts, fat cells and ductal epithelial cells of sweat glands on hematoxylin-eosin staining. IIs were positive on anti-p62 and anti-ubiquitin immunostaining. Electron microscopy indicated the IIs were composed of a pile of filament materials without membrane. Muscle biopsies from two patients showed no obvious neurogenic or myogenic pathologic changes, except in one patient several rimmed vacuoles fibers were found. In one patient sural nerve biopsy showed severe demyelinating pathological changes. No IIs were found in the muscles and peripheral nerve tissue either by histological examination or by immunohistochemical staining with anti-p62 or anti-ubiquitin, while IIs were found by immunofluorescence staining with both anti-p62 and anti-ubiquitin in three patient′s tissue. Conclusions:The phenotype of this NIID patient group is adult-onset NIID, with episodic encephalopathy as the main clinical manifestation. Skin biopsy has high pathological diagnostic value for NIID. The immunofluorescence staining with anti-p62 and anti-ubiquitin is easier to detect the presence of IIs than histological staining and immumohistochemical staining.

BACKGROUND: Intraarticular injection of corticosteroids after arthroscopic shoulder surgery is one of the effective methods to relieve shoulder pain and stiffness after surgery. However, whether the use of corticosteroids will increase the complications associated with arthroscopic shoulder surgery is still controversial. OBJECTIVE: To evaluate the safety and clinical efficacy of corticosteroid injections after arthroscopic shoulder surgery. METHODS: The electronic databases including PubMed, EMBASE and the Cochrane Central Register of Controlled Trials (CENTRAL) were searched for clinical controlled trials of corticosteroid injection into the articular cavity after arthroscopic shoulder surgery from the inception of the databases to September 2019. Data extraction and quality appraisement were performed independently by two investigators according to inclusion and exclusion criteria. Merging and analysis of effect quantities was conducted on RevMan 5.3 software. RESULTS AND CONCLUSION: (1) A total of six comparative studies were included. A total of 7 418 patients were enrolled, of which 3 920 were in the corticosteroid injections group and 3 498 in the control group. (2) Meta-analysis showed that there was no significant difference in tear rate, Constant score, ASES score and UCLA score between the two groups [OR=0.71, 95%CI[0.45, 1.13], P=0.15; MD=-0.99, 95% CI(-12.44, 10.46), P=0.87; MD=-0.12, 95%CI(−1.80, 1.56), P=0.89; MD=−1.46, 95%CI(−3.22, 0.30), P=0.10]. The infection rate of corticosteroid injections group was higher than that of control group (P < 0.05). There was no significant difference in infection rate between the two groups 2-4 months after arthroscopy (P > 0.05). (3) The results showed that the injection of corticosteroids did not increase the rate of postoperative tear, but the injection of corticosteroids within one month after the operation would increase the rate of postoperative infection. Therefore, when using corticosteroids after the operation, clinicians should weigh the advantages and disadvantages according to the actual situation of patients, and pay attention to avoid injecting intraarticular hormone treatment within 1 month after operation.

BACKGROUND: Total hip arthroplasty is the gold standard for the end stage of elderly hip disease, but Birmingham hip resurfacing has become an effective alternative to total hip arthroplasty for young people with high levels of exercise. Whether Birmingham hip resurfacing has an advantage over total hip arthroplasty is still inconclusive. OBJECTIVE: To systematically review the efficacy and metal ion level of Birmingham hip resurfacing and total hip arthroplasty. METHODS: The electronic databases of PubMed, EMBASE, Cochrane library, and Web of Science, which last updated on November 30, 2018, were searched for clinical control study of Birmingham hip resurfacing and total hip arthroplasty. Literature data were extracted and literature quality was evaluated. Meta-analyses were performed with RevMan 5.3 software. RESULTS AND CONCLUSION: (1) Twelve studies were identified with a total of 2 317 patients (n=1 279 in Birmingham hip resurfacing group and n=1 038 in total hip arthroplasty group). (2) Meta-analysis results demonstrated that in the primary outcome measures, the Birmingham hip resurfacing group did not differ from the total hip arthroplasty group during short-term follow-up (RR=0.13, 95% CI [0.02, 1.01], P=0.05), but Birmingham hip resurfacing had a lower revision rate during long-term follow-up (RR=0.27, 95% CI [0.15, 0.50], P < 0.000 1). (3) In the functional scores of secondary outcome measures, the Birmingham hip resurfacing group was superior to total hip arthroplasty in short-term follow-up Harris hip scores and modified Harris hip scores (P < 0.05). However, there was no significant difference between the two groups in the long-term follow-up Harris hip score and University of California, Los Angeles score and the Western Ontario and McMaster University score at any time (P > 0.05). (4) Finally, in the metal ion level, whether it was short-term follow-up or long-term follow-up, there was no significant difference between Birmingham hip resurfacing and total hip arthroplasty (P < 0.05). While at the Cr ion level, there was no significant difference between Birmingham hip resurfacing and total hip arthroplasty in short-term follow-up (P=0.55), but long-term follow-up showed that Birmingham hip resurfacing released more Cr ions than total hip arthroplasty after surgery, and the difference between the groups was statistically significant (P=0.03). (5) In conclusion, compared with total hip arthroplasty, Birmingham hip resurfacing has a smaller revision rate and overall complication, a better hip function score, but its Cr ion level is higher. This conclusion still needs further a great amount of large-sample, multi-center, high-quality randomized controlled trials to verify its correctness.

Objective To investigate the association between ten single nucleotide polymorphisms (SNPs) in the peroxisome proliferator-activated receptors and pulse pressure (PP) as well as the relationships between gene-gene interaction between PPARα/δ/γ genes and PP.Methods A total of 820 subjects,with 550 females and 270 males,were recruited from a cohort study of “Prevention of Metabolic Syndrome and Multi-metabolic Disorders in Jiangsu Province of China Study (PMMJS)”.Ten SNPs of PPARα/δ/γ genes were selected.GMDR software (version 1.0.1) was used to evaluate the gene-gene interactions among PPARs SNPs associated with PP.Results The mean levels of PP in people with mutant genotype of rs1805192 in PPARγ genes (PA+AA) showed a significant increase by 1.341 mmHg (95％CI:0.431-2.252 mmHg) when compared to the persons with wild genotype (PP).In the subgroup of subjects with more than 30 mmHg levels of PP,a six-locus model comprised rs135539 of PPARα,rs2016520 of PPARδ,rs10865710,rs1805192,rs709158 and rs3856806 of PPARγshowed a highest level of prediction accuracy (0.577) and displayed a better cross-validation consistency (10/10).In the subgroup of subjects with less than 40 mmHg levels of PP,a two-locus model was statistically associated with PP with 0.628 of prediction accuracy and 10/10 of cross-validation consistency.Conclusion PPARγrs1805192 was associated with the occurrence of PP.Gene-gene interactions among rs135539 of PPARα,rs2016520 of PPARδ,rs10865710,rs1805192,rs709158 and rs3856806 of PPARγ were all significantly related to PP.

Transcriptional regulation is one of the major regulations in plant adventious shoot regeneration, but the exact mechanism remains unclear. In our study, the RNA-seq technology based on the IlluminaHiSeq 2000 sequencing platform was used to identify differentially expressed transcription factor (TF) encoding genes during callus formation stage and adventious shoot regeneration stage between wild type and adventious shoot formation defective mutant be1-3 and during the transition from dedifferentiation to redifferentiation stage in wildtype WS. Results show that 155 TFs were differentially expressed between be1-3 mutant and wild type during callus formation, of which 97 genes were up-regulated, and 58 genes were down-regulated; and that 68 genes were differentially expressed during redifferentiation stage, with 40 genes up-regulated and 28 genes down-regulated; whereas at the transition stage from dedifferentiation to redifferention in WS wild type explants, a total of 231 differentially expressed TF genes were identified, including 160 up-regualted genes and 71 down-regulated genes. Among these TF genes, the adventious shoot related transcription factor 1 (ART1) gene encoding a MYB-related (v-myb avian myeloblastosis viral oncogene homolog) TF, was up-regulated 3 217 folds, and was the highest up-regulated gene during be1-3 callus formation. Over expression of the ART1 gene caused defects in callus formation and shoot regeneration and inhibited seedling growth, indicating that the ART1 gene is a negative regulator of callus formation and shoot regeneration. This work not only enriches our knowledge about the transcriptional regulation mechanism of adventious shoot regeneration, but also provides valuable information on candidate TF genes associated with adventious shoot regeneration for future research.
Arabidopsis ; growth & development ; Arabidopsis Proteins ; physiology ; Gene Expression Regulation, Plant ; Genes, Plant ; Plant Shoots ; growth & development ; RNA ; Regeneration ; Seedlings ; growth & development ; Transcription Factors ; physiology ; Up-Regulation

Objective To evaluate whether the reverse phase protein array (RPPA) method can be used for detecting TORCH infection in pregnant women .Methods The RPPA method was established for detecting TORCH infection .The positive coinci‐dence rates of TORCH infection detected by the RPPA method and ELISA method in 2000 fresh serum samples from pregnant women were compared for evaluating the feasibility of RPPA in TORCH detection .Results The positive coincidence rates of estab‐lished RPPA and ELISA for detecting TORCH infection was 100 .0% ,91 .1% ,97 .2% ,91 .3% and 93 .0% respectively ,indicating that the detection results of various indexes by RPPA and ELISA had better consistency (P>0 .05) ,but the positive detection rates of RPPA for Rubellavirus ,CMV and HSV‐1 ,2 were higher than those of correspondent ELISA method .Conclusion RPPA method for detecting TORCH infection has the advantages of simpleness ,rapidness ,high sensitivity and strong specificity ,is an effective method of auxiliary diagnosis for bearing and rearing better children in clinical ,and is worthy of being promoted and used in the fu‐ture .

Objective To explore the influence of the self-efficacy nursing on compliance behavior of patients with cervical cancer.Methods Totals of 153 patients from November 2012 to November 2013 diagnosed as uterine cervical neoplasms and treated by surgical procedure were selected, within which 86 patients joined the research and were divided into observation group and control group, 43 cases in each group. The control group was given the routine nursing care, and the observation group was given the self-efficacy nursing intervention on the basis of conventional nursing.The self-efficacy and compliance behavior were surveyed before and after the intervention.Results The scores of self-efficacy before the intervention had no statistically significant difference (t=0.158,P>0.05).After the intervention, the score of the observation group was (35.15 ±5.21), which was significantly higher than (21.26 ±8.26) of the control group ( t=15.684,P<0.01) .The score of self-efficacy of the observation group before and after the intervention were statistically significant (t=15.124,P<0.01), while the self-efficacy in the control group before and after the intervention had no statistically significant difference (t=1.245,P>0.05).After the intervention, the scores of compliance of medication, reasonable break, regular examination, healthy diet, abstain from tobacco and drink, reasonable exercise, prevention of infection and the total score were (2.85 ±0.41), (2.92 ±0.56), (2.81 ±0.44), (2.75 ±0.46), (1.87 ±0.41), (2.79 ±0.54), (2.88 ±0.39) and (18.75 ±1.65), which were significantly higher than those of the control group ( t=5.124, 6.235, 5.842, 4.963, 4.698, 5.148, 6.398, 5.458, respectively;P<0.01).Conclusions Self-efficacy nursing intervention can improve the self-efficacy of uterine cervical neoplasms patients, enhance patients’ self-management level, and enhance confidence on health compliance behavior.