Many functional magnetic resonance imaging (fMRI) studies have revealed the deactivation phenomenon of default mode network in the patients with epilepsy; however, nearly not any of the reports has focused on the dorsal attention network of epilepsy. In this paper, independent component analysis (ICA) was used to isolate the dorsal attention network of 16 patients with temporal lobe epilepsy (TLE) and of 20 healthy normals; and a goodness-of-fit analysis was applied at the individual subject level to choose the interesting component. Intra-group analysis and inter-group analysis were performed. The results indicated that the dorsal attention network included bilateral intraparietal sulcus, middle frontal gyrus, human frontal eye field, posterior lobe of right cerebellum, etc. The TLE group showed decreased functional connectivity in most of the dorsal attention regions with the predominance in the bilateral intraparietal sulcus, middle frontal gyrus, and posterior lobe of right cerebellum. These data suggested that the intrinsic organization of the brain function might be disrupted in TLE. In addition, the decrease of goodness-of-fit scores suggests that activity in the dorsal attention network may ultimately prove a sensitive biomarker for TLE.
Adolescent ; Adult ; Attention ; physiology ; Attention Deficit and Disruptive Behavior Disorders ; etiology ; physiopathology ; Brain Mapping ; Epilepsy, Temporal Lobe ; pathology ; physiopathology ; psychology ; Female ; Humans ; Image Interpretation, Computer-Assisted ; Image Processing, Computer-Assisted ; methods ; Magnetic Resonance Imaging ; methods ; Male ; Nerve Net ; physiopathology ; Principal Component Analysis ; methods ; Young Adult

Currently, the intraoperative location of microelectrode position in the globus pallidus is subjective and qualitative; it only depends on the experience of doctors during pallidotomy for the treatment of Parkinson's disease. The fractal characteristic of neuronal discharge signals is analyzed for target localization; the factor of box dimension is extracted from the microelectrode recordings for identifying the neuronal structures at the depth of microelectrode. New objective and quantitative targeting technique is presented by processing clinical microelelctrode recordings of Parkinson's disease. Through the validation of clinical data and the critical appraisal by experts, the targeting technique can be used for improving the accuracy of localization in neurosurgery.
Electrophysiology ; Globus Pallidus ; physiopathology ; surgery ; Humans ; Microelectrodes ; Neurons ; physiology ; Pallidotomy ; methods ; Parkinson Disease ; physiopathology ; surgery ; Stereotaxic Techniques ; Surgery, Computer-Assisted ; methods

The microelectrode recordings of neuron discharge, which contain noises, are very complex and apt to be disturbed by many factors during the microelectrode-guided stereotactic operations. The varying signal-to-noise ratios are obstacles to the analysis of neural spikes. A novel method based on a combination of wavelet-based and non-linear energy operator is presented for the detection of neural spikes. The method is tested for neural signals of different patients and various SNR values. The results demonstrate its performance for successful detection and effective extraction of the waveform of neural spikes.
Action Potentials ; physiology ; Algorithms ; Humans ; Microelectrodes ; Neural Conduction ; physiology ; Neurons ; physiology ; Nonlinear Dynamics ; Signal Processing, Computer-Assisted

OBJECTIVETo explore the applications of fluorescence in situ hybridization (FISH) in the diagnosis for the patients with gonadal dysgenesis.

METHODSAfter routine gynecologic examination, ultrasonography and endocrine examination, 5 cases of gonadal dysgenesis and hypogonadism were analyzed by using chromosomal diagnoses including G-banding, Q-banding, multiplex FISH and BAC-FISH analyses.

RESULTSAmong the 5 cases of gonad agenesis patients, 2 were pure gonadal dysgenesis with 46, XY karyotype, 3 were mixed gonadal dysgenesis with mos 45, X/47, XXX; 45, X/46, XY or 46, X, der(Y) karyotype.

CONCLUSIONSex chromosomal abnormalities resulted in gonadal dysgenesis symptoms. Applications of FISH and BAC-FISH analyses can correctly diagnose the sex chromosomal abnormalities for patients with gonad agenesis and provide accurate medical genetic data for clinical diagnosis and therapy.

Adolescent ; Chromosomes, Artificial, Bacterial ; genetics ; Gonadal Dysgenesis ; diagnosis ; genetics ; pathology ; therapy ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Karyotyping ; Male ; Sex Chromosome Aberrations

Objective: To explore the surgical methods for children with contracture deformity on hands after burn. Methods: From January 2014 to January 2018, 33 pediatric patients, a total of 42 hands with scar contracture deformities were reviewed. There were 24 males and 9 females, aged from 11 months to 6 years and 7 months. Among them, 20 hands were volar metacarpophalangeal joint contractures, 9 were volar interphalangeal joint contractures, 7 were dorsal metacarpophalangeal joint contractures (3 claw-shaped hands), 3 were hand back contractures, and 3 were palm contractures. Of the 42 hands, 36 hands were repaired with full-thickness skin grafts or split-thickness skin grafts, after the removal of contracted scar, and 6 hands were repaired with abdominal skin flaps, due to the tendon or bone exposure after the scar removal. Results: Skin grafts on 31 hands were all survived after 2 weeks. However, the survival area of 3 skin grafts was about 90%, and 2 skin grafts survived about 80%. All of them healed well after dressing changing. The 6 hands repaired with abdominal skin flap healed well too. After 1-2.5 years of follow-up, finger scar contracture occurred in 4 hands with skin grafting, and they were performed scar excision and sheet skin grafting. Three hands were treated with Z-plasty, due to web space contracture. The function of other hands were normal, without contracture or deformity. The skin color and texture were similar to the surrounding skin, with limited pigmented. Scars on the edge of skin grafts was not obvious. Patients and their families were satisfied. Conclusions The sheet skin graft is the main method for postburn scar contracture in children′s hands. The abdominal skin flap should be considered, if tendon or bone is exposed, especially for large wound or multiple sites.

OBJECTIVE: To explore the molecular pathogenesis of a Chinese pedigree affected with Hereditary coagulation factor Ⅺ (FⅪ) deficiency due to variants of the F11 gene. METHODS: A male proband with Hereditary coagulation factor Ⅺ deficiency who was admitted to the First Affiliated Hospital of Wenzhou Medical University due to urinary calculi on November 30, 2020 and his family members (7 individuals from 3 generations in total) were selected as the study subjects. Clinical data of the proband were collected, and relevant coagulation indices of the proband and his family members were determined. Genomic DNA of peripheral blood samples was extracted for PCR amplification. All exons, flanking sequences, and 5' and 3' untranslated regions of the F11 gene of the proband were analyzed by direct sequencing. And the corresponding sites were subjected to sequencing in other family members. The conservation of amino acid variation sites was analyzed by bioinformatic software, and the effect of the variant on the protein function was analyzed. Variants were graded based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). RESULTS: The proband was a 36-year-old male. His activated partial thromboplastin time (APTT) was 89.2s, which was significantly prolonged. The FⅪ activity (FⅪ:C) and FⅪ antigen (FⅪ:Ag) were 2.0% and 3.5%, respectively, which were extremely reduced. Both the proband and his sister were found to harbor compound heterozygous variants of the F11 gene, including a c.689G>T (p.Cys230Phe) missense variant in exon 7 from their father and a c.1556G>A (p.Trp519*) nonsense variant in exon 13 from their mother. Conservation analysis indicated the Cys230 site to be highly conserved. The c.1556G>A (p.Trp519*) variant was known to be pathogenic, whilst the c.689G>T variant was classified as likely pathogenic (PM2+PM5+PP1+PP3+PP4) based on the ACMG guidelines. CONCLUSION The c.689G>T and c.1556G>A compound heterozygous variants of the F11 gene probably underlay the pathogenesis of FⅪ deficiency in this pedigree.
Adult ; Humans ; Male ; 3' Untranslated Regions ; East Asian People ; Factor XI/genetics* ; Factor XI Deficiency/genetics* ; Partial Thromboplastin Time ; Pedigree

ObjectiveTo compare the differences in resistance and structure of skin between acupoints and non-acupoints， and to study the difference in skin permeability characteristics of Corydalis Rhizoma total alkaloid patches （CTTP） after administration at Shenque acupoint and non-acupoint， so as to provide experimental support for its clinical acupoint application to prevent and treat chronic pain. MethodTaking corydaline （CD）， tetrahydropalmatine （THP） and corydalis L （CDL） as evaluation indexes， and the quantitative analysis was carried out by high performance liquid chromatography （HPLC）. The mobile phase was methanol-0.04 mol·L^-1 phosphoric acid aqueous solution （70∶30， pH 6.0 adjusted with triethylamine）， the detection wavelength was 281 nm. In vitro transdermal test in Franz diffusion cell and in vivo transdermal test were used to study the skin permeability characteristics of CTTP through Shenque acupoint and non-acupoint administration. At the same time， the skin resistance between Shenque acupoint and non-acupoint was measured before and after the administration， and the distribution of the drug in each layer of the skin was compared by freezing sectioning， and visual verification was performed with fluorescence inverted microscope. ResultAfter 24 h of administration， the results of in vivo and in vitro experiments showed that the cumulative permeation and retention of CD， THP and CDL at Shenque acupoint skin were higher than those at non-acupoint skin （P<0.05， P<0.01）， the skin resistance of Shenque acupoint was lower than that of non-acupoint at all time points. The fluorescence microscopic observation results showed that the drug content of each layer of the skin was all Shenque acupoint>non-acupoint， indicating that the skin of Shenque acupoint had better effect on drug penetration and storage than non-acupoint. ConclusionThe 24 h cumulative permeation and retention of CTTP in Shenque acupoint skin are higher than those in non-acupoint skin， and the mechanism may be related to the thin skin， low electrical resistance and large number of hair follicle bodies at Shenque acupoint.

ObjectiveTo explore the protective effect of polysaccharide from Inonotus obliquus （IOP） on lipopolysaccharide （LPS）-induced acute lung injury （ALI） in mice. MethodA total of 40 male C57BL/6 mice were randomly divided into normal group， model group， dexamethasone group， and high-dose and low-dose IOP groups， with eight mice in each group. The high-dose and low-dose IOP groups were administered intragastrically with IOP at 20 and 10 mg·kg^-1， respectively. The normal group and the model group were intragastrically administered with normal saline in equal volumes， and the dexamethasone group was intraperitoneally injected with dexamethasone phosphate injection of 30 mg·kg^-1 for 21 days. An ALI mouse model induced by LPS was constructed， and hematoxylin-eosin （HE） staining， immunofluorescence staining， and blood routine were used to detect pathological damage of lung tissue and blood cell content. Enzyme-linked immunosorbent assay （ELISA） and Real-time fluorescence quantitative polymerase chain reaction （Real-time PCR） were used to detect the expression levels of various inflammatory factors. Changes in gut microbiota and plasma differential metabolites in mice were detected using 16S rRNA sequencing and ultra-high performance liquid chromatography-quadrupole-time of flight tandem mass spectrometry （UPLC-Q-TOF-MS）. ResultCompared with the model group， the lung tissue lesions of ALI mice were significantly improved after IOP administration， and the spleen and thymus index were dramatically increased （P<0.05， P<0.01）. The ratio of wet-to-dry weight of lung tissue was sensibly decreased （P<0.05， P<0.01）， and the number of lymphocytes was substantially increased （P<0.05， P<0.01）. The number of neutrophils was markedly decreased （P<0.01）. The expression level of interleukin-6 （IL-6）， interleukin-8 （IL-8）， interleukin-1β （IL-1β）， nuclear factor-κB（NF-κB）， and nucleotide-binding oligomerization domain-like receptor 3 （NLRP3） decreased prominently （P<0.05， P<0.01） and the expression level of interleukin-10 （IL-10） increased memorably （P<0.01）. The 16S rRNA sequencing results show that IOP can regulate and improve intestinal microbial disorders. The UPLC-Q-TOF-MS results indicate that the treatment of ALI mice with IOP may involve pathways related to mitochondrial， sugar， and amino acid metabolism， such as nucleotide sugar metabolism， histidine metabolism， ubiquinone， and other terpenoid compound-quinone biosynthesis， as well as starch and sucrose metabolism. ConclusionThe improvement of lung tissue lesions and inflammatory response by IOP in ALI mice may be related to maintaining intestinal microbiota balance， regulating mitochondrial electron oxidation respiratory chain， as well as sugar and amino acid metabolism pathways， and affecting the production of related microbial metabolites and tricarboxylic acid cycle metabolites.

Background Although transforming growth factor-β (TGF-β)/Smad signaling pathway is important in regulating the occurrence and development of pulmonary fibrosis, the pathogenesis of pulmonary fibrosis remains elusive. Objective To explore the functions of genes associated with TGF-β/Smad signaling pathway in the progression of pulmonary fibrosis. Methods A NIH-3T3 fibroblast model induced by TGF-β1 was established. The experiment samples were divided into a control group and a TGF-β1 treatment group. The control group was exposed to normal saline, while the TGF-β1 treatment group was exposed to 10 ng·mL⁻¹ TGF-β1 for 12 h. The RNAs of the two groups were extracted, sequenced, and analyzed by bioinformatics methods to identify seven key genes in TGF-β pathway, including Dcn, Smad3, Smad7, Fbn1, Thbs1, TGF-β1, and TGF-β3. The gene expression levels of five markers [Collagen1α1, Collagen1α2, α-smooth muscle actin (α-SMA), TGF-β1, and TGF-β3] and the seven key genes were detected by quantitative real-time PCR (qRT-PCR). The proteins of the two groups were extracted. The important marker protein expression levels of Smad3, the phosphorylation of Smad3 (P-Smad3), and α-SMA were detected by Western blotting. At the same time, 30 healthy SPF-grade C57BL/6 mice were randomly divided into three groups, with 10 mice in each group: a control group, a SiO₂ inhalation exposure group for 28 d (10 mice), and a SiO₂ inhalation exposure group for 56 d (10 mice). The mice in the two treatment groups were exposed to a natural SiO₂ environment for 4 h per day with a 10-min pause for breathing fresh air at 2 h intervals. The lung tissues of the mice were taken after execution. The changes of pulmonary fibrosis were detected by Masson staining, and mRNAs and proteins were extracted to detect the expression of the above key genes and proteins. Results The expression levels of the five marker genes Collagen1α1, Collagen1α2, α-SMA, TGF-β1, and TGF-β3 were significantly increased in the TGF-β1-induced NIH-3T3 fibroblasts than those in the control group (P < 0.01); the expression levels of P-Smad3 and α-SMA proteins increased significantly (P < 0.01); the expression results of the seven key genes screened in the TGF pathway were that Dcn and Smad3 were obviously down-regulated (P < 0.01), and Smad7, Fbn1, Thbs1, TGF-β1, and TGF-β3 were obviously up-regulated (P < 0.01). The changes in gene expression levels of the transcriptome sequencing showed the same trend. The results of Masson staining showed that the content of collagen fibers in the lung tissues also increased in the SiO₂ inhalation exposure groups over time. In the mouse experiment, five marker genes were obviously up-regulated compared with the control group (P < 0.01); no obvious change was found in the expression of Smad3 protein, and the expression levels of P-Smad3 and α-SMA were obviously higher in the SiO₂ exposure groups than those in the control group (P < 0.01); the expression levels of Dcn and Smad3 showed a down-regulated trend, while the expression levels of Smad7, Fbn1, Thbs1, TGF-β1, and TGF-β3 showed an up-regulated trend with the increase of SiO₂ inhalation exposure days (P < 0.01). The expression levels of the above five marker genes, three important marker proteins, and seven key genes were consistent with the expression trends of TGF-β1-induced NIH-3T3 fibroblasts. Conclusion The expression levels of pulmonary fibrosis-related marker genes and proteins change significantly in TGF-β1-induced fibroblast cells, and the lung tissues of mice under natural SiO₂ inhalation exposure has obvious fibrosis characteristics. Seven genes (Dcn, Smad3, Smad7, Fbn1, Thbs1, TGF-β1, and TGF-β3) may be involved in the regulation of pulmonary fibrosis by the TGF-β/Smad signaling pathway.