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Radiotherapy is a first-line treatment for a variety of malignant tumors by inducing DNA damage to kill tumor cells. However, tumor cells have different sensitivities to radiotherapy, ultimately leading to different therapeutic effects. Histone acetylation, regulated by histone acetyltransferase (HAT) and histone deacetylase (HDAC), is involved in the regulation of cell radiation sensitivity by influencing DNA damage repair. The main mechanisms are recruiting DNA repair related proteins and mediating chromatin dynamic changes. In this article, the role of histone acetylation modification in tumor radiotherapy was reviewed, aming to provide the basis for the radiotherapy sensitization strategy based on histone acetylation.
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Astrocytes (ASTs) and oligodendroglial lineage cells (OLGs) are major macroglial cells in the central nervous system. ASTs communicate with each other through connexin (Cx) and Cx-based network structures, both of which allow for quick transport of nutrients and signals. Moreover, ASTs interact with OLGs through connexin (Cx)-mediated networks to modulate various physiological processes in the brain. In this article, following a brief description of the infrastructural basis of the glial networks and exocrine factors by which ASTs and OLGs may crosstalk, we focus on recapitulating how the interactions between these two types of glial cells modulate myelination, and how the AST-OLG interactions are involved in protecting the integrity of the blood-brain barrier (BBB) and regulating synaptogenesis and neural activity. Recent studies further suggest that AST-OLG interactions are associated with myelin-related diseases, such as multiple sclerosis. A better understanding of the regulatory mechanisms underlying AST-OLG interactions may inspire the development of novel therapeutic strategies for related brain diseases.
Subject(s)
Humans , Myelin Sheath , Astrocytes , Oligodendroglia , Brain , Brain DiseasesABSTRACT
Evodiamine(EVO)is an indoloquinazoline alkaloid isolated from the fruits of Euodia rutaecarpa,which has long been used in traditional Chinese medicine to treat various diseases.Modern medical research shows that evodiamine has various pharmacological activities and extremely high medicinal value such as anti-inflammation,anti-tumor,losing weight,treating Alzheimer's,and antibacterium.Evodiamine can interact with a variety of proteins.For example,the interaction between evodiamine and TRPV1 induces its activation to exert anti-inflammatory and losing weight; the interaction with DNA topoisomerase I inhibits its function and thus inhibit bacterial proliferation; the interaction with tubulin promotes NLRP3 inflammasome activation,and exerts anti-tumor and anti-inflammatory functions.In recent years,with the in-depth study of evodiamine,pharmacological research and mechanism of evodiamine has significant improvement.Recent progress of pharmacological effect of evodiamine is highlighted in this review.
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OBJECTIVE@#To evaluate the effectiveness and security of posterior percutaneous endoscopic cervical discectomy (PPECD) in the treatment of single level cervical spondylopathy with intraspinal ossification.@*METHODS@#Twenty three patients with single level cervical spondylopathy with intraspinal ossification were treated by posterior percutaneous endoscopic cervical discectomy between August 2017 and July 2019. There were 16 males and 7 females, aged from 29 to 74 years old with an average of (50±13) years.The disease duration were 3 to 120 months with a median of 6 months. There were 9 cases of cervical spondylotic radiculopathy, 6 cases of cervical spondylotic myelopathy, and 8 cases of mixed cervical spondylopathy. According to the characteristics of ossification, 17 cases were osteophytes on the posterior edge of the vertebral body;3 cases were protrusion ossification;3 cases were posterior longitudinal ligament ossification. According to the position of ossification in spinal canal, 14 cases were medial and lateral type, 5 cases were central type, and 4 cases were mixed type. Posterior percutaneous cervical endoscopic cervical discectomy in patients performed by the same surgeon. Japanese Orthopaedic Association (JOA) score and visual analogue scale(VAS) were compared separately before and after operation. At 3 months after operation, clinical effect was assessed according to modified Macnab standard.@*RESULTS@#All operations were successful. The operative time was 30 to 155 (69.1±27.2) min. The bedridden time was 2 to 3(3.0±0.9) h, length of postoperative hospitalization was 2 to 7(4.1± 1.5) d. Three dimensional CT reconstruction of the cervical spine at 3 days after operation showed that ossified tissue of 13 cases were completely removed, and 10 cases were left after operation, and the residual was located at the posterior edge and/or center of the upper vertebral body. VAS score at discharge from hospital was significantly lower than that before operation (@*CONCLUSION@#For an experienced surgeon, percutaneous posterior cervical endoscopic discectomy is safe and reliable in treating single level cervical spondylopathy with intraspinal ossification, and can obtain good clinical results.
Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Cervical Vertebrae/surgery , Diskectomy , Diskectomy, Percutaneous , Endoscopy , Intervertebral Disc Displacement/surgery , Osteogenesis , Retrospective Studies , Treatment OutcomeABSTRACT
Lysinuric protein intolerance (LPI) is an autosomal recessive disorder caused by SLC7A7 gene mutation and often involves severe lesions in multiple systems. Lung involvement is frequently seen in children with LPI and such children tend to have a poor prognosis. This article summarizes the clinical manifestations and gene mutation characteristics of three children diagnosed with LPI by SLC7A7 gene analysis. All three children had the manifestations of aversion to protein-rich food after weaning, delayed development, anemia, hepatosplenomegaly, and osteoporosis, as well as an increase in orotic acid in urine. In addition, interstitial pneumonia and diffuse pulmonary interstitial lesions were observed in two children. SLC7A7 gene detection showed three pathogenic mutations in these children, namely c.1387delG(p.V463CfsX56), c.1215G>A(p.W405X) and homozygous c.625+1G>A. After a definite diagnosis was made, all three children were given a low-protein diet and oral administration of citrulline [100 mg/(kg.d)], iron protein succinylate [4 mg/(kg.d)], calcium and zinc gluconates oral solution (10 mL/day) and vitamin D (400 IU/day). In addition, patient 3 was given prednisone acetate (5 mg/day). The children had varying degrees of improvement in symptoms and signs. It is hard to distinguish LPI from urea cycle disorder due to the features of amino acid and organic acid metabolism in LPI, and SLC7A7 gene analysis is the basis for a definite diagnosis of LPI.
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Child , Humans , Amino Acid Metabolism, Inborn Errors , Genetics , Citrulline , Fusion Regulatory Protein 1, Light Chains , Genetics , Lysine , MutationABSTRACT
Objective To compare the effects of transforaminal peripheral nerve stimulation(PNS) and spinal cord stimulation(SCS) in treatment of postherpetic neuralgia.Methods A total of 64 patients with postherpetic neuralgia in our hospital from January 2015 to January 2016 were divided into PNS group and SCS group according to random number table.Both two groups were treated with PNS or SCS for 14 days,respectively.Visual analogue scale(VAS) and piasburgh sleep quality index(PSQI) were adapted to assess the effects at the different time of preoperation, postoperation 1 day,1 week,1 month,2 months.Results At the preoperation and 2 months postoperation,in PNS group,the VAS were (8.4±1.6) and (1.4±1.0),the PSQI were (16.1±2.1) and (5.8±1.3),respectively;meanwhile in the SCS group,the VAS were (8.6±1.8) and (2.9±1.2),the PSQI were (15.6±2.3),(7.5±1.5),respectively.Obviously,the VAS and PQSI at different follow-up stages were improved after transforaminal PNS or SCS treatment, the differences were signicant(P<0.05).Moreover,the PNS group had lower VAS and higher PQSI compared with the SCS group at different follow-up stages,the differences were signicant(P<0.05).Conclusion The transforaminal PNS achieved satisfying outcomes on pain relief and quality of sleep improvements for the postherpetic neuralgia patients,which was superior to that of the SCS.
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<p><b>OBJECTIVE</b>To investigate the changes in brain injury after the induction chemotherapy in children with acute lymphoblastic leukemia (ALL) by cranial MRI.</p><p><b>METHODS</b>The clinical data and cranial MRI results of 62 children with ALL who were hospitalized from March 2014 to June 2015 were analyzed retrospectively.</p><p><b>RESULTS</b>Before chemotherapy, MRI showed bone marrow infiltration of the skull in 33 patients (53%); the children with WBC<20×10(9)/Lhad a significantly lower incidence rate of bone marrow infiltration of the skull than those with WBC≥20×10(9)/L (16 patients/42% vs 17 patients/71%; P<0.05), and the high-risk group had a significantly higher incidence rate of bone marrow infiltration of the skull than the non-high-risk group (71% vs 44%; P<0.05). Before chemotherapy, there were 4 cases (7%) of brain atrophy, and 2 cases (3%) of abnormal signals in the sensory conduction bundle. MRI reexamination in 28 patients after 3 months of chemotherapy showed 3 new cases (11%) of brain atrophy and 1 aggravated case of brain atrophy.</p><p><b>CONCLUSIONS</b>The children with ALL have bone marrow infiltration of the skull, brain atrophy, and abnormal signals in the sensory conduction bundle before chemotherapy, especially bone marrow infiltration of the skull, and some changes in brain injury disappear after treatment.</p>
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Adolescent , Child , Child, Preschool , Female , Humans , Infant , Male , Bone Marrow , Pathology , Brain , Pathology , Induction Chemotherapy , Magnetic Resonance Imaging , Precursor Cell Lymphoblastic Leukemia-Lymphoma , Drug Therapy , Pathology , Retrospective Studies , Skull , PathologyABSTRACT
OBJECTIVE@#To develop a five fluorescence-labeled multiplex amplification system for 15 loci and study genetic polymorphism in Xinjiang Uygur population.@*METHODS@#The STR loci were screened. The alleles were named according to the number of repeats by sequencing. The sensitivity, species specificity, identity and stability of the five fluorescence-labeled multiplex amplification system for the 15 loci were all tested. Then, the genetic polymorphism was analyzed in Xinjiang Uygur population and compared with other ethnic groups including Xizang Tibetan, Xiuyan Manchu, and Guangzhou Han population.@*RESULTS@#The 15 loci multiplex amplification system was established. The sensitivity was 0.3 ng with good species specificity, identity and stability. The distributions of genotype for 13 STR loci in Uygur population were in accordance with Hardy-Weinberg equilibrium with no genetic linkage between these loci. Most loci showed statistically significant among different populations.@*CONCLUSION@#The established system has application value in forensic evidence. The 13 STR loci in Uygur population have
Subject(s)
Humans , Alleles , Ethnicity/genetics , Gene Frequency , Genetic Linkage , Genotype , Multiplex Polymerase Chain Reaction/methods , Polymorphism, GeneticABSTRACT
Objective To construct a prokaryotic plasmid expressing the recombinant protein of enterohemorrhagic Escherichia coli(EHEC) effector NleB1 and to prepare the polyclonal antibody of mouse anti-NleB1.Methods The nleB1 (990 bp) gene was amplified from the genome EHEC O157∶H7 and cloned into the expression plasmid pET24a to construct the recombinant plasmid pET24a-nleB1 that was transformed into E.coli BL21(DE3).After induction with isopropylthio-gelactoside( IPTG) , the His-tag fusion proteins were purified by Ni+affinity chromatography and gel slices.The polyclonal antibody was prepared by immunizing BALB/c mice with purified recombinant proteins and analyzed by Western blotting and ELISA.Results The pET24a-nleB1 recombinant plasmid was successfully constructed, the fusion protein was ex-pressed and purified,and the polyclonal antibody was obtained by immunizing mice with purified fusion protein.Western blotting and ELISA staining demonstrated that the polyclonal antibody was successfully obtained.Conclusion The prepara-tion of the polyclonal antibody against EHEC O157∶H7 NleB1 will be of help for further studies on the function of NleB1 protein.
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Objective To construct the typeⅢ secretion system (T3SS) deficient mutant of O157∶H7 EDL933, and to detect its ability of attachment after infection with HeLa cells.Methods The recombinant DNA fragments obtained kana-mycin resistant gene were constructed by overlap extension PCR and transferred into EDL933/pKD46 to replace escR gene by homologous recombination.Results The T3SS-deficient mutant (ΔescR) was successfully construted.Compared with the wild-type EDL933, the growth rate and attachment on HeLa cells of ΔescR were significantly decreased.Conclusion The deletion of escR gene, which encodes T3SS structural protein EscR, affects the attachment of EDL933, suggesting a better basis for future studies of T3SS.
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<p><b>OBJECTIVE</b>To study the alterations of follicular T helper cells (CD4(+)CXCR5(+)Tfh cells, Tfh) on circulating T lymphocytes in children with asthma, and to study the expression of transcription regulatory factors BCL-6 and BLIMP-1 mRNA.</p><p><b>METHODS</b>Sixty-four children with asthma and 25 healthy controls were enrolled in this study. On the basis of the disease, the children with asthma were classified into acute phase group (n=36) and remission phase group (n=28). The flow cytometry was used to detect the proportion of CD4(+)CXCR5(+)Tfh cells on CD4(+)T lymphocytes. Real-time PCR was performed to detect the levels of BCL-6 mRNA and BLIMP-1 mRNA. The double -antibody Sandwich ELISA was used to detect plasma concentrations of total IgE, IL-2, IL-6 and IL-21.</p><p><b>RESULTS</b>The proportion of CD4(+)CXCR5(+)Tfh cells was significantly higher in the acute group than in the control group and the remission group (P<0.05). Transcription levels of BCL-6 mRNA were significantly higher, while the inhibitory factors BLIMP-1 mRNA was significantly lower in the acute group than in the remission group and control group (P<0.05). The plasma concentration of IL-6 in the acute group increased significantly compared with the control group (P<0.05). Plasma concentrations of total IgE and IL-21 increased significantly, in contrast, plasma IL-2 concentration decreased significantly in the acute group, compared with the control group and the remission group (P<0.05). Correlation analysis showed that both IL-21 and IL-6 concentrations were positively correlated with the proportion of CD4(+)CXCR5(+)Tfh cells (r=0.76, r=0.46 respectively; P<0.05), while IL-2 level was negatively correlated with the proportion of Tfh cells (r=-0.68, P<0.05).</p><p><b>CONCLUSIONS</b>The abnormal proportion of CD4(+)CXCR5(+)Tfh cells might be involved in the immunological pathogenesis of acute asthma in children. The increased expression of BCL-6 mRNA and decreased expression of BLIMP-1 mRNA as well as the alterations of plasma total IgE, cytokines IL-2, IL-6 and IL-21 in microenvironment might be account for the increased proportion of CD4(+)CXCR5(+)Tfh cells in children with acute asthma.</p>
Subject(s)
Child , Child, Preschool , Female , Humans , Infant , Male , Asthma , Allergy and Immunology , DNA-Binding Proteins , Genetics , Immunoglobulin E , Blood , Interleukins , Blood , Positive Regulatory Domain I-Binding Factor 1 , Proto-Oncogene Proteins c-bcl-6 , RNA, Messenger , Receptors, CXCR5 , Repressor Proteins , Genetics , T-Lymphocytes, Helper-Inducer , Allergy and ImmunologyABSTRACT
<p><b>OBJECTIVE</b>To assess the efficacy and experience of gracilis muscle transposition for complex rectovaginal fistula (RVF) and rectourethral fistula (RUF).</p><p><b>METHODS</b>Nineteen patients underwent gracilis muscle transposition for complex RVF and RUF from May 2009 to November 2011 in the Beijing Shijitan Hospital and the clinical data were prospectively collected. The success rate and complications were recorded. SF-36 quality of life score, Wexner fecal incontinence score, and female sexual function score before surgery and 6 months after surgery were recorded.</p><p><b>RESULTS</b>In 19 patients, there were 8 males (RUF) and 11 females (RUF). The times of failed attempt repair preoperatively ranged from 0-3 (mean, 1.0). The diameter of the fistula ranged from 0.5-3.0 cm (mean, 1.6), and all fistulas located above the sphincter. The operative time ranged from 145-400 minutes (median, 240). The postoperative hospital stay ranged from 10-39 days (median 21). Early postoperative complications included thigh pain and numbness in 2 cases, leg numbness in 2 cases. No long-term complications were noticed. The follow-up period ranged from 6-35 months (median, 18). The gracilis muscle transposition had a healing rate of 94.7% (18/19). As compared with the preoperative level, Wexner score decreased from 10.0±8.8 to 2.9±5.8, and the continence function improved significantly (P=0.002). Sexual function score of 11 female patients increased from 1.0±1.8 to 4.0±4.0, and the sexual function had a significant improvement after surgery (P=0.022). SF-36 quality of life scores improved significantly (P<0.001).</p><p><b>CONCLUSIONS</b>Gracilis muscle transposition for complex rectovaginal fistula and rectourethral fistula has high success rate with mild and rare complications.</p>
Subject(s)
Adolescent , Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Young Adult , Follow-Up Studies , Muscle, Skeletal , General Surgery , Prospective Studies , Rectal Fistula , General Surgery , Rectovaginal Fistula , General Surgery , Surgical Flaps , Thigh , General Surgery , Treatment Outcome , Urethra , General Surgery , Urinary Fistula , General SurgeryABSTRACT
<p><b>OBJECTIVE</b>To investigate genetic polymorphisms of 10 short tandem repeats loci (D6S1043, D7S3048, D9S925, D10S2325, D11S2368, D14S608, D15S659, D17S1290, D20S470 and GATA198B05) in Tibetans from Lhasa, China.</p><p><b>METHODS</b>Following extraction, DNA from 208 unrelated Tibetan individuals was amplified with a self-designed multiplex PCR system. The amplified fragments were separated by electrophoresis on an ABI 3130 Genetic Analyzer and analyzed with GeneMapper®3.2 software.</p><p><b>RESULTS</b>The distributions of genotype for the 10 STR loci in the population were in accordance with Hardy-Weinberg equilibrium. The polymorphism information component for the 10 loci was 0.750-0.860, the degree of heterozygosity was 0.726-0.865, the discrimination power was 0.919-0.968, and the probability of exclusion was 0.470-0.725. The combined probability of exclusion and combined discrimination power was 0.9998 and 0.999 999 999 997, respectively.</p><p><b>CONCLUSION</b>Above STR loci have high probability of exclusion and discrimination power, which can be used as candidate markers for population genetic research and forensic practice for Tibetans from Lhasa, China.</p>
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Humans , Asian People , Genetics , China , Genotype , Heterozygote , Microsatellite Repeats , Polymorphism, GeneticABSTRACT
Objective To investigate the change of 14-3-3 protein in cerebrospinal fluid (CSF) in different types of meningoencephalitis in children and its value in judging brain injury.Methods CSF 14-3-3 protein bands were detected by means of Western blot in 22 patients with viral meningoencephalitis and 20 cases of purulent meningoencephalitis and with 15 cases of febrile seizures as the control group from Jul.2009 to Jun.2010,and in addition,the quantitative detection of 14-3-3 protein was done by way of ELISA.Correlation was analyzed between the clinical manifestations,prognosis,EEG,head CT or MRI and the changes of 14-3-3 protein.Results The positive rate of 14-3-3 protein in cases of purulent meningitis was 65.0(13/22 cases),higher than viral meningoencephalitis group(27.3%,6/22 cases),and the difference was significant.In the quantitative detection,14-3-3 protein was increased in both the purulent meningitis [(5.6 + 0.2) μg/L] and viral encephalitis groups[(3.2 + 0.3) μg/L] compared with the control group [(0.9 + 0.1) μg/L].After treatment,14-3-3 proteins were less than before in the purulent meningitis and viral meningoencephalitis groups.In the cases with severe clinical manifestations and severe injury brain suggested by imaging and EEG,the 14-3-3 protein in cerebrospinal fluid was elevated;and the prognosis of the cases with increased 14-3-3 protein was poor,as a result of epilepsy,death and so on.Conclusions 14-3-3 protein in the CSF increases with disease severity,so to a certain extent,it can be used to identify viral meningitis and purulent meningitis.
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<p><b>OBJECTIVE</b>To assess the feasibility of high-resolution melting (HRM) analysis for screening patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).</p><p><b>METHODS</b>Based on previous studies on SLC25A13 gene in Chinese patients with NICCD, four hotspot mutations (851del4, 1638ins23, IVS6+5G>A and IVS16ins3kb) were selected. Results of the HRM analysis was validated using 50 negative controls and 20 patients with NICCD whose genotypes were confirmed previously by direct sequencing. With the established protocol, 171 suspected patients were enrolled. Samples with abnormal melting curves were further validated by DNA sequencing.</p><p><b>RESULTS</b>HRM analysis can accurately determine the genotypes of all negative controls and patients. The sensitivity and specificity of the technique reached 100% (70/70). The melting curves of samples with the same genotype were highly reproducible. In 171 suspected patients, seven NICCD patients were detected by HRM. Identified mutations have included one case of 851del4 homozygote, one case of IVS6+5G>A heterozygote, 3 cases of 851del4 heterozygotes, one case of [IVS6+5G>A]+[ 851del4] and one case of [1638ins23+IVS16ins3kb]+[1638ins23]. All mutations were subsequently confirmed by DNA sequencing.</p><p><b>CONCLUSION</b>HRM analysis is a convenient, high-throughput and rapid technique for the screening of NICCD patients.</p>
Subject(s)
Humans , Anion Transport Proteins , Genetics , Base Sequence , Calcium-Binding Proteins , China , Citrullinemia , Diagnosis , Genetics , Metabolism , DNA , Chemistry , Genetics , Genetic Predisposition to Disease , Genotype , Mitochondrial Proteins , Genetics , Molecular Sequence Data , Mutation , Nucleic Acid Denaturation , Organic Anion Transporters , Sensitivity and SpecificityABSTRACT
<p><b>OBJECTIVE</b>To review clinical features of four male patients with glutaric academia type I and screen glutaryl-CoA dehydrogenase (GCDH) gene mutations.</p><p><b>METHODS</b>The 4 patients underwent brain computer tomography (CT) and magnetic resonance imaging (MRI) analyses. Blood acylcarnitine and urine organic acid were analyzed with tandem mass spectrometry and gas chromatographic mass spectrometry. Genomic DNA was extracted from peripheral blood samples. The 11 exons and flanking sequences of GCDH gene were amplified with PCR and subjected to direct DNA sequencing.</p><p><b>RESULTS</b>All patients have manifested macrocephaly, with head circumference measured 50 cm (14 months), 47 cm (9 months), 46 cm (5 months) and 51 cm (14 months), respectively. Imaging analyses also revealed dilation of Sylvian fissure and lateral ventricles, frontotemporal atrophy, subarachnoid space enlargement and cerebellar vermis abnormalities. All patients had elevated glutarylcarnitine (5.8 umol/L, 7.5 umol/L, 8.3 umol/L and 7.9 umol/L, respectively) and high urinary excretion of glutaric acid. Seven mutations were identified among the patients, among which c.146_149del4, IVS6-4_Ex7+4del8, c.508A>G (p.K170E), c.797T>C (p.M266T) and c.420del10 were first discovered.</p><p><b>CONCLUSION</b>Macrocephaly and neurological impairment are the most prominent features of glutaric academia type I. Blood tandem mass spectrometry and urine gas chromatographic mass spectrometry analysis can facilitate the diagnosis. The results can be confirmed by analysis of GCDH gene mutations.</p>
Subject(s)
Humans , Infant , Male , Amino Acid Metabolism, Inborn Errors , Diagnosis , Genetics , Metabolism , Amino Acid Sequence , Base Sequence , Brain Diseases, Metabolic , Diagnosis , Genetics , Metabolism , Glutaryl-CoA Dehydrogenase , Genetics , Metabolism , Molecular Sequence Data , Mutation , Sequence AlignmentABSTRACT
Seventy-four patients aged 26-63 yr who had suffered cervicogenic headache for 3 months-21 yr were treated with puked radiofrequency applied to C2 dorsal root ganglion, which is located in the middle of the posterior side of lateral atlantoaxial joint. A trochar was introduced percutaneously under the guidance of X-ray aiming at the target point. As it was inserted through the deep fascia, the stylet was withdrawn and a 10 cm long 22 gauge curved blunt electrode was inserted into the trochar and advanced until the patients felt radiating pain from the point of puncture to occiput. Lateral radiograph was obtained to verify the placement of electrode. The tip of the electrode was usually located in front of spinal canal at the atlantoaxial joint level. Sensory stimulation was performed with 50 Hz and 0.1-0.5 V and the patients could feel radiating pain at occiput. Motor stimulation was performed with 2 Hz and 0.4-1.0 V and regular pulsation of the patient's muscle of occiput could occur. Pulsed radiofrequency was applied at 42 ℃7 for 240 s and was performed twice on each side. VAS scores and disturbances of daily activity, mood and sleep were recorded before operation and at 1 week and 1, 3, 6, 12 and 18 months after pulsed radiofrequency treatment. Complications and recurrence within 12 and 18 months were recorded. Follow-up was lost in 22 patients. VAS scores and disturbances of daily activity, mood and sleep significantly decreased after procedure. All of the patients responded without complications like infection, spinal cord and vertebral artery injury. Some patients had transient occipital neuralgia which was usually relieved within 24 h. The recurrence rate in 12 and 18 months after operation was 19% and 31% respectively.
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<p><b>OBJECTIVE</b>Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) which resulted from mutation in SLC25A13 gene can present transient intrahepatic cholestasis, low birth weight, growth retardation, hypoproteinemia and so on. This study aimed to identify the mutation type of NICCD patients by DNA sequencing.</p><p><b>METHODS</b>Twenty children diagnosed as NICCD were consented to enroll in this study. PCR assays were performed to amplify the eighteen exons and its flanking sequences of SLC25A13 gene, which were defined as the upstream and downstream 50 bp from starting and ending site of the exons. Then the PCR products were purified and followed by automated DNA sequencing. The IVS16ins3kb mutation was detected by nested PCR and RT-PCR.</p><p><b>RESULTS</b>Seven genetic variations of SLC25A13, termed as 851del4, 1638ins23, IVS16ins3kb, IVS6+5G>A, c.775C>T (p.Q259X), c.1505C>T (p.P502L) and c.1311C>T (p.C437C), were identified in the subjects, of which c.775C>T (p.Q259X), c.1505C>T (p.P502L) and c.1311C>T (p.C437C) were reported for the first time in NICCD patients. And a compound mutation of[1638ins23+IVS16ins3kb]was also identified. In 20 patients with NICCD, 6 patients were 851del4 homozygotes, 7 patients were compound heterozygotes, and 7 patients were heterozygotes of single mutation. 851del4 was the major mutation type (64%), followed by 1638ins23 (15%), IVS16ins3kb (12%) and IVS6+5G>A (6%).</p><p><b>CONCLUSIONS</b>851del4 is the major mutation type in Chinese patients with NICCD.</p>
Subject(s)
Female , Humans , Infant , Infant, Newborn , Male , Cholestasis, Intrahepatic , Genetics , Mitochondrial Membrane Transport Proteins , Genetics , Mutation , Sequence Analysis, DNAABSTRACT
<p><b>OBJECTIVE</b>To evaluate the efficacy and safety of aripiprazole in the treatment of children with Tourette syndrome.</p><p><b>METHOD</b>A prospective, multi-center, controlled clinical trial was conducted in 195 children aged 5-17 years with Tourette syndrome. The patients were assigned to two groups: aripiprazole group (n=98) and tiapride group (n=97), with the treatment dosage of 5-25 mg/d and 100-500 mg/d, respectively. After 12 weeks treatment, the clinical efficacy was assessed by the Yale Global Tic Severity Scale (YGTSS) score, and adverse reactions were observed by side effects symptoms scale, blood biochemical indexes, and electrocardiography.</p><p><b>RESULT</b>Significant pre- and post-treatment differences were ascertained for motor tic, phonic tic, function damage and total scores of YGTSS in the both groups from the second week of treatment (P<0.0001). Compared with the tiapride group, the aripiprazole group showed a more significantly decreased function damage score of YGTSS by the second week of treatment (P<0.05). After 12 weeks treatment, total scores of YGTSS in the aripiprazole group decreased from 53.74±15.71 at baseline to 24.36±16.38, while in the tiapride group from 51.66±13.63 to 23.26±15.31. The mean reduction scores of YGTSS were 29.38 in the aripiprazole group and 28.40 in the tiapride group at the end of treatment, and the clinical response rates were 60.21% and 63.92%, respectively. There were no significant differences between the 2 groups (P>0.05). The incidence of adverse reactions was similar in the aripiprazole and tiapride groups, with 29.6% and 27.8% respectively. There were no significant differences in the incidence of adverse reactions between aripiprazole and tiapride groups and no severe adverse events were found in either group.</p><p><b>CONCLUSION</b>The results showed that aripiprazole showed similar therapeutic effect to tiapride in treatment of children with Tourette syndrome. Aripiprazole was safe and well tolerated in Chinese population, and can be considered as a new valid option for the treatment of tic disorders.</p>
Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Male , Antipsychotic Agents , Therapeutic Uses , Aripiprazole , Piperazines , Therapeutic Uses , Prospective Studies , Quinolones , Therapeutic Uses , Tiapamil Hydrochloride , Therapeutic Uses , Tourette Syndrome , Drug Therapy , Treatment OutcomeABSTRACT
From November 2003 to May 2010, intrathecal drug delivery system (IDDS) was implanted in 18 patients with chronic intractable pain. Analgesia was provided with morphine. Thirteen patients suffered from late stage cancer and 5 from diseases other than cancer. VAS score was used to measure intensity of pain in all 18patients. QLQ-C30 score was used to evaluate quality of life in cancer patients. The patients were followed up for 3-62 months in 5 non-cancer patients. All 13 cancer patients died at 57 days-10 months after operation. VAS scores were significantly decreased and QLQ-C30 scores increased by intrathecal administration of morphine. Side effects developed in all patients to some extent including nausea, vomiting, constipation, urinary retention, pruritus and over-sedation and vanished in a week. Intrathecal catheter was cut while being pulled out of the needle in 1 patient. Two patients developed low intracranial pressure after operation. Cerebrospinal fluid leakage occurred in 1 patient. One patient developed neuropathic pain in the posterolateral side of right leg.