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1.
Acta Pharmaceutica Sinica ; (12): 2283-2291, 2022.
Article in Chinese | WPRIM | ID: wpr-937031

ABSTRACT

IgG4-related disease (IgG4-RD) is a newly recognized fibro-inflammatory condition of autoimmune etiology in recent twenty years, mainly manifesting as mass-forming lesions in single or multiple organs. In the past, it was often missed or misdiagnosed as inflammation or tumor. Patients may die from multiple organ failure due to end-stage fibrosis if they are not treated promptly. However, the number of clinically confirmed cases has gradually increased with the improvement of diagnostic level in recent years, and these patients have benefited greatly after receiving early treatment. Although patients generally respond well to traditional immunosuppressors including glucocorticoids and disease-modifying anti-rheumatic drugs, refractory and recurrent cases, even patients with glucocorticoid contraindication are common. Important mechanistic insights have been derived from studies of B-cell depletion therapy, but greater awareness of the pathophysiology of IgG4-RD is still badly needed to identify novel therapeutic targets. In this article, we reviewed the pathogenesis progress and promising therapy of IgG4-RD to seek better clinical management of IgG4-RD.

2.
Chinese Journal of Radiology ; (12): 536-541, 2022.
Article in Chinese | WPRIM | ID: wpr-932536

ABSTRACT

Objective:To explore the value of biphasic quantitative CT on small airway disease and emphysema injury in patients with smoking combined with chronic obstructive pulmonary disease (COPD).Methods:A total of 186 male physical examination subjects who underwent biphasic CT and pulmonary function (PFT) examinations in the Affiliated Hospital of Yan′an University from July 2018 to September 2020 were enrolled in this retrospective study. These subjects were divided into 121 smokers with COPD (COPD group), aged 34 to 84 (64±8) years old and 65 smokers without COPD (non-COPD group) aged 34 to 72 (61±5) years old. According to the guidelines of the COPD global initiative, patients in COPD group were divided into Global Initiative for Chronic Obstructive Pulmonary Disease (GOLD) Ⅰ-Ⅳ grades. The original DICOM data of CT were imported into the "Digital Lung" test and analysis platform. Quantitative parameters of functional small airway disease percentage (fSAD%) and emphysema area percentage (Emph%) of each lobe were calculated. The differences of CT quantitative parameters among non-COPD group and each grade in COPD group were analyzed by One-Way ANOVA or Kruskal-Wallis H test. The correlation between the smoking index and CT quantitative parameters was analyzed by Spearman correlation analysis. Results:There were significant differences in fSAD% and Emph% of each lobe among non-COPD group and COPD group GOLD Ⅰ-Ⅳ ( P<0.001). Except that the Emph% in right middle lobe of GOLD grade Ⅰ was higher than that of GOLD grade Ⅱ in COPD group, the fSAD% and Emph% in other lobes increased gradually with the increase of GOLD grade in COPD group. The fSAD% and Emph% were larger in the right middle lobe and both upper lobes of COPD group GOLD Ⅰ-Ⅳ. The comparison among each lobe showed that the differences were statistically significant ( P<0.01), except for the fSAD% and Emph% of GOLD Ⅳ ( P=0.395, 0.840). The smoking index was positively correlated with fSAD% and Emph% in each lung lobe. Among them, smoking index was highly correlated with fSAD% in the lower right lobe and Emph% in the lower left lobe ( r=0.474, 0.619, P<0.001). Conclusion:The biphasic quantitative CT can early and sensitively reflect the degree of small airway disease and emphysema injury in smoking combined with COPD, which is of great significance for the early diagnosis and evolution of COPD.

3.
Article in Chinese | WPRIM | ID: wpr-930491

ABSTRACT

Antipyretic-analgesics are currently one of the most prescribed drugs in children.The clinical application of antipyretic-analgesics for children in our country still have irrational phenomenon, which affects the therapeutic effect and even poses hidden dangers to the safety of children.In this paper, suggestions were put forward from the indications, dosage form/route, dosage suitability, pathophysiological characteristics of children with individual differences and drug interactions in the symptomatic treatment of febrile children, so as to provide reference for the general pharmacists when conducting prescription review.

4.
Acta Physiologica Sinica ; (6): 248-260, 2019.
Article in English | WPRIM | ID: wpr-777191

ABSTRACT

Prostaglandin (PG) E plays critical roles during pregnancy and parturition. Emerging evidence indicates that human labour is an inflammatory event. We sought to investigate the effect of PGE on the output of proinflammatory cytokines in cultured human uterine smooth muscle cells (HUSMCs) from term pregnant women and elucidate the role of subtypes of PGE receptors (EP, EP, EP and EP). After drug treatment and/or transfection of each receptor siRNA, the concentrations of inflammatory secreting factors in HUSMCs culture medium were detected by the corresponding ELISA kits. The results showed that, PGE increased interleukin 6 (IL-6) and tumor necrosis factor alpha (TNFα) output, decreased chemokine (c-x-c motif) ligand 8 (CXCL8) output in a dose-dependent manner, but had no effect on IL-1β and chemokine (c-c motif) ligand 2 (CCL-2) secretion of HUSMCs. EP/EP agonist 17-phenyl-trinor-PGE stimulated IL-6 and TNFα whilst suppressing IL-1β and CXCL8 output. The effects of 17-phenyl-trinor-PGE on IL-1β and CXCL8 secretion were remained whereas its effect on IL-6 and TNFα output did not occur in the cells with EP knockdown. The stimulatory effects of 17-phenyl-trinor-PGE on IL-6 and TNFα were remained whereas the inhibitory effects of 17-phenyl-trinor-PGE on IL-1β secretion was blocked in the cells with EP knockdown. Either of EP and EP agonists stimulated IL-1β and TNFα output, which was reversed by EP and EP siRNA, respectively. The inhibitors of phospholipase C (PLC) and protein kinase C (PKC) blocked EP/EP modulation of TNFα and CXCL8 output. PI3K inhibitor LY294002 and P38 inhibitor SB202190 blocked 17-phenyl-trinor-PGE-induced IL-1β and IL-6 output, respectively. The inhibitors of adenylyl cyclase and PKA prevented EP and EP stimulation of IL-1β and TNFα output, whereas PLC and PKC inhibitors blocked EP- and EP-induced TNFα output but not IL-1β output. Our data suggest that PGE receptors exhibit different effects on the output of various cytokines in myometrium, which can subtly modulate the inflammatory microenvironment in myometrium during pregnancy.


Subject(s)
Cells, Cultured , Chromones , Pharmacology , Cytokines , Metabolism , Female , Humans , Imidazoles , Pharmacology , Inflammation , Morpholines , Pharmacology , Myocytes, Smooth Muscle , Cell Biology , Myometrium , Cell Biology , Phosphatidylinositol 3-Kinases , Pregnancy , Pyridines , Pharmacology , Receptors, Prostaglandin E , Physiology
5.
Article in Chinese | WPRIM | ID: wpr-771984

ABSTRACT

OBJECTIVE@#To explore the genetic cause for a patient with intellectual disability, short stature and multiple congenital anomalies, and to correlate the result with the clinical phenotype.@*METHODS@#Routine karyotyping analysis was carried out on GTG-banded metaphase chromosomes. Single nucleotide polymorphism (SNP) microarray was used to detect microdeletions or microduplications in the patient. Fluorescence in situ hybridization (FISH) was used to ascertain the origin of aberrant chromosomes.@*RESULTS@#The karyotype of the patient was 46,XY,der(18), while both of his parents had a normal karyotype. SNP array identified a 1.23 Mb deletion at 18p11.32-pter (chr18: 136 227-1 370 501, hg19) and a 33.76 Mb duplication at 18q21.1-qter (chr18: 44 250 359-78 013 728, hg19) in the patient. Above finding was confirmed by dual-color FISH with one color for 18p and another for 18q. The patient presented with some common features of 18p deletion and 18q duplication including intellectual disability and growth retardation, in addition with some features of 18p deletion including pectus excavatum, short stature and growth hormone (GH) deficiency. The patient showed progressive improvement of stature with GH therapy. Comparison of patients with previously reported dup(18q)+del(18p) recombinations suggested that, even for patients with similar breakpoints, their phenotypes have ranged from normal to severe and there were no consistent findings.@*CONCLUSION@#As aberrations involving double chromosomal segments often result in phenotypic variability, it has been difficult to correlate the genotype of our patient with his phenotype.


Subject(s)
Abnormalities, Multiple , Chromosome Deletion , Chromosomes, Human, Pair 18 , Genotype , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Monosomy , Phenotype , Trisomy
6.
Article in Chinese | WPRIM | ID: wpr-771939

ABSTRACT

OBJECTIVE@#To explore the pathogenesis of two fetuses from one family affected with Joubert syndrome (JS).@*METHODS@#Whole exome sequencing was employed to screen potential mutations in both fetuses. Suspected mutations were verified by Sanger sequencing. Impact of intronic mutations on DNA transcription was validated by cDNA analysis.@*RESULTS@#Two novel TCTN1 mutations, c.342-8A>G and c.1494+1G>A, were identified in exons 2 and 12, respectively.cDNA analysis confirmed the pathogenic nature of both mutations with interference of normal splicing resulting in production of truncated proteins.@*CONCLUSION@#The genetic etiology of the family affected with JS has been identified.Above findings have enriched the mutation spectrum of TCTN1gene and facilitated understanding of the genotype-phenotype correlation of JS.


Subject(s)
Abnormalities, Multiple , Diagnosis , Genetics , Cerebellum , Congenital Abnormalities , Eye Abnormalities , Diagnosis , Genetics , Humans , Kidney Diseases, Cystic , Diagnosis , Genetics , Membrane Proteins , Genetics , Mutation , Pedigree , Retina , Congenital Abnormalities , Whole Exome Sequencing
7.
Article in Chinese | WPRIM | ID: wpr-707743

ABSTRACT

Objective To investigate the feasibility of the automatic cystocele severity grading software for quantitative evaluation of prolapse of bladder posterior wall by transperineal ultrasound . Methods One hundred and seventy transperineal ultrasound video clips were recorded when the female patients performing the Valsalva maneuver and those clips were divided into training group ( 85 cases) and test group ( 85 cases) randomly ,then the ralated structures of the images from the training group offline were marked . Through machine learning algorithm ,the computer had learned and was able to analyzed the marking information ,then the automatic cystocele severity grading software was obtained . And later the software was ran to mark the structures and get the cystocele severity grading in the images from the test group . Meanwhile , the same structures of the same images manually were marked and after an interval of more than two weeks the process were repeated by 3 doctors . Finally the grading results obtained from the software and the measurers of the 3 doctors were compared . Results The intelligent identification and automatic measurement software obtained from the machine learning algorithm was able to identify the related structures . The grading results of each measurer were of good consistency ( κ :0 .72 -0 .78 ;ICC :0 .980-0 .990) . The grading results between different measurers were of good consistency ( κ :0 .65-0 .75 ;ICC :0 .985-0 .992) . The grading results between automatic software and three different measurers were of good consistency ( κ :0 .63-0 .67 ;ICC :0 .967-0 .969 ; r =0 .936 ,0 .943 ,0 .936 ,all P <0 .01) . Conclusions The automatic cystocele severity grading software is able to identify the related structures in the images and reliable to apply the software in pelvic floor ultrasound .

8.
Article in Chinese | WPRIM | ID: wpr-789464

ABSTRACT

[Objective]To determine the relationship between maternal serum IL-1, IL-6, IL-8, TNF-a and CRH levels and preterm labor in asymptomatic women at 24 to 28 weeks' gestation. [Methods] We performed a prospective cohort study from January 2015 to December 2017 for asymptomatic women at 24 to28 weeks' gestation and maternal serum. According to the pregnancy outcome, 100 cases of preterm labor were selected as experimental group and another 100 cases of term labor as control group. The levels of serum IL-1, IL-6, IL-8, TNF-a and CRH were measured by ELISA. The partial membranes of all cases were examined pathologically after labor. [Results] The levels of serum IL-1, IL-6 and IL-8 in preterm labor group were significantly higher than those in the control group (P <0.05). The levels of serum IL-6and IL-8 in preterm labor with chorioamnionitis were significantly higher than those without chorioamnionitis and term labor (P < 0.05). The level of IL-1 in preterm labor without chorioamnionitis was significantly higher than that of term labor (P<0.05). The levels of serum TNF-a and CRH had no difference between the groups (P>0.05). Receiver-operating characteristic curves demonstrated that serum IL-1, IL-6 and IL-8 predicted preterm labor. The area under the curve (AUC) of IL-1 was 0.843. The AUC of IL-6 was0.675 and IL-8 was 0.55. [Conclusion] Maternal serum IL-1, IL-6 and IL-8 in asymptomatic women at24 to 28 weeks' gestation are useful markers for prediction of preterm labor.

9.
Article in Chinese | WPRIM | ID: wpr-701163

ABSTRACT

Stroke is one of the major causes of death and disability in China and even worldwide.At present, treatment of stroke has been traditionally focused on reducing death of ischemic cells.However,clinical trials have shown that none of neuroprotective drugs tested achieve clinical benefit after acute stroke.Exosomes are 30~100 nm extracellular vesicles derived from cells with cell membrane structure.Many studies suggest exosomes play essential roles in intercellular communication by transferring their cargo between source and target cells in brain.Emerging data show that exsomes also make a contribution to brain recovery via regulating highly interactive process pathway after stroke.Here,we review these advances and highlight the potential therapeutic functions of exosomes in brain remodeling after stroke.

10.
International Eye Science ; (12): 1284-1286, 2018.
Article in Chinese | WPRIM | ID: wpr-695429

ABSTRACT

·AIM: To research the quality of life ( QOL ) and influencing factors in patients with diabetic retinopathy (DR). ·METHODS: A total of 103 diagnosed case of diabetic retinopathy from January 2017 to August 2017 in Daping Hospital of Chongqing were enrolled in this study. The questionnaire survey was conducted using Scale of Quality of Life in Patients with Visual Impairment (SQQL-VI ) and social support revalued scale. The factors influencing their quality of life were also analyzed. The data were analyzed by SPSS 25. 0 software. Proportions were compared by using the chi-square test and the means were compared by using the t-test. The factors of DR such as age, gender, education and social support were analyzed using stepwise multiple linear regression. ·RESULTS: The scores in the patients with diabetic retinopathy included total quality of life 63. 59 ± 9. 58, symptoms and visual function 53. 13 ± 8. 51, body function 28. 39 ± 3. 86, social activities 27. 95 ± 3. 63, psychological aspects 27. 78 ± 3. 85. The single factor analysis showed that there were significant differences in age, education level occupation, monthly income, the style of medical cost, course of disease, and social support (P<0. 05). Multivariate linear regression indicated that age, education level, the style of medical cost, course of disease, and social support were statistically significantly associated with the quality of life (P<0. 05). ·CONCLUSION: To improve the quality of life of DR patients, it is essential to reduce the financial burden and increase the social support.

11.
Article in English | WPRIM | ID: wpr-740727

ABSTRACT

BACKGROUND/AIMS: The Rome III criteria separated chronic constipation into functional constipation (FC) and constipation-predominant irritable bowel syndrome (IBS-C), but some researchers questioned the partitioning and treated both as distinct parts of a continuum. The study aims to explore the similarity and diversity of brain white matter between FC and IBS-C. METHODS: The voxel-wise analysis of the diffusion parameters was used to quantify the white matter changes of female brains in 18 FC patients and 20 IBS-C patients compared with a comparison group with 19 healthy controls by tract-based spatial statistics. The correlations between diffusive parameters and clinical symptoms were evaluated using a Pearson’s correlation. RESULTS: In comparison to healthy controls, FC patients showed a decrease of fractional anisotropy (FA) and an increase of radial diffusivity (RD) in multiple major fibers encompassing the corpus callosum (CC, P = 0.001 at peak), external capsule (P = 0.002 at peak), corona radiata (CR, P = 0.001 at peak), and superior longitudinal fasciculus (SLF, P = 0.002 at peak). In contrast, IBS-C patients showed FA and RD aberrations in the CC (P = 0.048 at peak). Moreover, the direct comparison between FC and IBS-C showed only RD differences in the CR and SLF. In addition, FA and RD in the CC were significantly associated with abdominal pain for all patients, whereas FA in CR (P = 0.016) and SLF (P = 0.040) were significantly associated with the length of time per attempt and incomplete evacuation separately for FC patients. CONCLUSION: These results may improve our understanding of the pathophysiological mechanisms underlying different types of constipation.


Subject(s)
Abdominal Pain , Anisotropy , Brain , Constipation , Corpus Callosum , Diffusion , Diffusion Tensor Imaging , External Capsule , Female , Humans , Irritable Bowel Syndrome , White Matter
12.
Journal of Practical Radiology ; (12): 1205-1208, 2017.
Article in Chinese | WPRIM | ID: wpr-608948

ABSTRACT

Objective To analyze the diagnosis and prognosis value of abdominal CT scans in patients with acute pancreatitis complications.Methods 151 cases with acute pancreatitis were selected.The relationship between abdominal CT performances and the common complications and death in patients was analyzed.The prognosis of patients with different Balthazar CT severity index (CTSI) grade was compared.Results The complication rate of patients with CT signs of fatty liver, pleural effusion, liver gap effusion, adrenal gland involvement (AGI), penirenal space involvement (PSI) and gastric bare area involvement (GBAI) was significantly higher than that of patients with negative CT findings above (P<0.05).With CTSI grading increasing, the patient''s fasting time, heating time, hospital stay, recovery time of blood amylase were extended, and the incidence of pseudo cyst, transit surgery, organ failure and death was gradually increasing (P<0.05).Conclusion Severe fatty liver, AGI, GBAI, PSI and liver gap effusion are risk factors for acute complications and death in patients with pancreatitis.

13.
Article in Chinese | WPRIM | ID: wpr-335094

ABSTRACT

<p><b>OBJECTIVE</b>To explore the correlation between 13q33-q34 microdeletion and clinical phenotype.</p><p><b>METHODS</b>Routine chromosomal banding was performed to analyze the karyotype, while array-based comparative genomic hybridization (aCGH array) and single nucleotide polymorphism array(SNP array) were employed to investigate the genome copy number variations.</p><p><b>RESULTS</b>The karyotype of patient 1 was 46, XY, 9qh+,13qs. Patient 2 showed 46, XX, der (13). Patient 3 showed 46, XX, r(13) (p11.2q32) [43]/45, XX, 13[4]/46, XX, r(13;13) [2]/47, XX, 2r(13;13) [1]. Patient 4 did not undergo chromosome karyotyping analysis. Array analysis showed that four patients have different microdeletions in 13q33-34 region and had common features of 13q33-q34deletion including intellectual disability, facial dysmorphism, microcephaly, hypotonia, low birth weight and genital abnormality.</p><p><b>CONCLUSION</b>The severity of phenotypes showed no correlation with the size of deletion in 13q33-q34. The lower percentage of patients with congenital heart disease suggested a complex pathogenesis of such disease. EFNB2, LIG4 and SOX1 in 13q33-34 region are promising candidates for mental retardation. LIG4 was also a likely candidate for microcephaly.</p>


Subject(s)
Child, Preschool , Chromosome Banding , Methods , Chromosome Deletion , Chromosomes, Human, Pair 13 , Genetics , Female , Genetic Testing , Methods , Humans , Infant , Intellectual Disability , Genetics , Male
14.
China Pharmacy ; (12): 4617-4620, 2017.
Article in Chinese | WPRIM | ID: wpr-668666

ABSTRACT

OBJECTIVE:To provide reference for improving the level of pediatric drug supply and guarantee. METHODS:Questionnaire survey about the situation and causes of pediatric drug shortage was conducted in 13 third-level hospitals of Jiangsu province [directors of pharmacy department(or drug purchasers)and clinical pharmacists of each surveyed hospital]. The survey da-ta were analyzed statistically so as to provide suggestions. RESULTS:A total of 26 questionnaires were distributed,and 26 effec-tive questionnaires were collected with effective recovery rate of 100%. In 13 hospitals,special drugs for children were mostly less than 5% of hospital drug list. There were 82 kinds of special drugs for children(containing hospital preparation),mainly including Chinese patent medicine(35.37%),drugs for respiratory system(12.20%),vitamin,mineral substance and enteral and parenteral nutrient solution(10.98%). The most types of anti-infective drugs,antineoplastics,nervous system drugs and psychotropic drugs, digestive system drugs were in shortage among 126 pediatric drugs in shortage(8.73%). The reasons for pediatric drug shortage mainly included price(38.10%),production break(32.54%),failure to bid or no supply(13.49%). The shortage of cheap drugs with price of 0.01-10.00 was the most serious,accounting for 57.94% of the varieties in shortage supply. Respondents thought that special drug shortage most affected clinical treatment(38.46%),followed by poisoning rescue drugs(30.77%)and orphan drugs(15.38%). CONCLUSIONS:Special drugs for children account for a very small proportion in the hospital drugs list. Pediatric drug shortage is affected by many factors. Cheap drug shortage is the most serious. The shortage of special drugs for children and poison-ing rescue drugs is considered to have a great impact on clinical treatment. It is suggested to establish special drugs for children pro-tective policy,improve drug circulation,promote pediatric drug clinical trial and intensify the research and development of special drugs for children so as to guarantee pediatric drug supply.

15.
Progress in Modern Biomedicine ; (24): 4318-4320,4352, 2017.
Article in Chinese | WPRIM | ID: wpr-615351

ABSTRACT

Objective:To investigate the diagnostic value of spiral CT head and neck angiography on carotid artery stenosis in patients with acute cerebral infarction.Methods:A total of 60 patients with acute cerebral infarction(ACI),who were treated in Affiliated Hospital of Yan'an University from January 2014 to January 2016,were selected as observation group,and 60 patients with non-acute cerebral infarction,as control group.The two groups of patients underwent spiral CT head and neck angiography.The degrees of carotid artery stenosis and the distribution of vascular plaques were compared between the two groups.The diagnostic value of spiral CT head and neck angiography in the diagnosis of carotid artery stenosis of the patients with ACI was evaluated.Results:The detection rates of mild and moderate stenosis in the observation group were significantly higher than those in the control group (P<0.05),while the detection rates of severe stenosis and occlusion had no significant difference compared with the control group (P>0.05).The total detection rate of stenosis in the observation group was higher than that in the control group (P<0.05).There were plaques detected in the carotid bifurcation,common carotid artery,internal carotid artery and external carotid artery in the two groups.The total detection rate (69.4%) of the observation group was significantly higher than that (41.2%) of the control group (P<0.05).Conclusion:Application of 128-slice spiral CT can effectively assess the head and neck angiography on carotid artery stenosis in patients with acute cerebral infarction.This method has a higher detection rate from mild to moderate stenosis and bilateral carotid artery plaques in the patients with ACI,and it has application value in the clinical diagnosis and prognosis.

16.
Article in Chinese | WPRIM | ID: wpr-611554

ABSTRACT

Objective To estimate prenatal diagnoses strategy with abnormal results of non-invasive prenatal testing (NIPT) based on a case of mosaic for trisomy 22.Methods The pregnanct woman was recruited from Department of Prenatal Diagnosis Center of Xinhua Hospital.Ultrasound scans suggested fetal nuchal translucency was 3.5 mm.Peripheral venous blood was drawn from the pregnant woman for NIPT at 12+2 weeks gestation.For further prenatal diagnosis, amniocentesis was conducted at 16+2 weeks gestation, and karyotype analysis combination with chromosome microarray analysis (CMA) was executed to analysis amniocytes.Results NIPT results suggested that chromosome 21, 18 and 13 were normal and supplementary reports suggested that chromosome 22 were slightly above the normal range.Karyotype analyzed 35 cultured cells.Each of them revealed a normal female karyotype.However, CMA results suggested that chromosome 22 gain mosaic and its copy number was 2.26.The fetus was diagnosed as high possibility of mosaic for trisomy 22.Conclusions Combined with the NIPT results, which was slightly gain mosaic of chromosome 22, a prenatal diagnosis strategy were proposed.When NIPT results suggest chromosomal abnormities, karyotype analysis combination with CMA to diagnose were recommended.

17.
Article in Chinese | WPRIM | ID: wpr-344167

ABSTRACT

<p><b>OBJECTIVE</b>To explore the genetic cause for two familial Angelman syndrome cases and correlation between the clinical phenotypes and their genetic basis.</p><p><b>METHODS</b>Karyotyping analysis and microarray assay were carried out to exclude chromosome anomalies and uniparental disomy. The UBE3A gene was analyzed for potential point mutations, deletions, insertions and splice site mutations. Reverse transcription PCR was used to evaluate splicing mutation of the RNA transcripts.</p><p><b>RESULTS</b>DNA sequencing showed the proband of family 1 has carried a novel maternal UBE3A splice acceptor site mutation, resulting in a guanine-to-cytosine transversion (IVS15-1G>C). Reverse transcription PCR revealed the proband and his mother both carried heterozygous mutant transcripts with loss of 54 and 59 nucleotides in exon 16, respectively. The proband displayed severe mental retardation, ataxia, seizures and inappropriate laughter. The siblings of family 2 has carried a novel maternal missense mutation in exon 16 of the UBE3A gene (c.2540C>T). She also presented with mental retardation, absent speech, mild ataxia and inappropriate laughter.</p><p><b>CONCLUSION</b>The novel IVS15-1G>C and c.2540 C>T mutations of the UBE3A gene probably underlie the AS in the two families. Compared with small-scale mutations, larger fragments mutations can produce more severe phenotypes.</p>


Subject(s)
Angelman Syndrome , Genetics , Female , Humans , Karyotyping , Male , Mutation , Ubiquitin-Protein Ligases , Genetics
18.
Article in Chinese | WPRIM | ID: wpr-247651

ABSTRACT

<p><b>OBJECTIVE</b>To determine the genetic cause for two mentally retarded patients from a family, and to correlate their genotypes with clinical phenotypes.</p><p><b>METHODS</b>Routine G-banded karyotyping analysis was performed. Single nucleotide polymorphism (SNP) microarray analysis was used to detect microdeletions or microduplications. Fluorescence in situ hybridization (FISH) was used to ascertain the origin of chromosomal abnormalities.</p><p><b>RESULTS</b>Both proband and his uncle showed a normal karyotype. SNP microarray analysis has identified a 1.147-Mb microdeletion at 16p13.3 (85 880-1 233 819) and a 2.948-Mb microduplication at 19q13.42-q13.43 (56 008 597-58 956 816). FISH analysis confirmed that the patient has inherited a derivative chromosome 16 from his father. The proband presented with mental retardation, reduced speech, and facial dysmorphism (hypertelorism, down-slanting palpebral fissure, low nasal bridge and wide gap between front teeth). His uncle presented with a milder phenotype with mental retardation.</p><p><b>CONCLUSION</b>Both the proband and his uncle have carried a chromosome microdeletion at 16p and microduplication at 19q, which were originated from their fathers carrying a balanced t(16;19) translocation. Combined SNP microarray analysis and FISH assay are useful for the detection the copy number variations and delineation of potential structural changes, which may help with evaluation of recurrence risk for this family.</p>


Subject(s)
Adult , Child , Chromosome Deletion , Chromosome Duplication , Chromosomes, Human, Pair 16 , Chromosomes, Human, Pair 19 , Humans , In Situ Hybridization, Fluorescence , Intellectual Disability , Genetics , Karyotyping , Male , Oligonucleotide Array Sequence Analysis , Polymorphism, Single Nucleotide , Translocation, Genetic
19.
China Pharmacy ; (12): 4924-4926, 2016.
Article in Chinese | WPRIM | ID: wpr-506210

ABSTRACT

OBJECTIVE:To analyze bacteria distribution and drug resistance of pediatric severe sepsis in our hospital,and to provide reference for clinical rational use of antimicrobial agents. METHODS:57 pediatric severe sepsis patients were collected from pediatric intensive care unit of our hospital during Jan. 2014 to May 2015. The results of pathogen culture and drug sensitivity tests were analyzed retrospectively. RESULTS:Of 57 children,pathogen were detected in 18 cases(31.58%). A total of 91 pathogen were detected,of which there were 24 strains of Gram-positive(G+)bacteria(26.37%)mainly including Staphylococcus and Entero-coccus,60 strains of Gram-negative (G-) bacteria (65.93%) mainly including Klebsiella pneumoniae and Acinetobacter calco-acetcus-A. baumannii complex and 7 strains of fungus (7.69%) as Candida. 4 strains of methicillin-resistant Staphylococcus,22 strains of carbapenems-resistant K. pneumoniae,21 strains of multi-drug resistant K. pneumoniae and 7 strains of multi-drug resistant A. calcoacetcus-A. baumannii complex were all detected. Methicillin-resistant Staphylococcus,Staphylococcus aureus and Streptococ-cus pneumoniae were sensitive to vancomycin and linezolid,with resistant rate of 0. K. pneumoniae was completely resistant to ampi-cillin sodium and sulbactam sodium,piperacillin sodium and tazobactam sodium,imipenem and cephalosporin,with resistant rate of 100%. Resistant rate of A. calcoacetcus-A. baumannii complex to major common antimicrobial agents was higher than 50%. Esche-richia coli was resistant to cefotaxime,and resistant rates of other antimicrobial agents were lower than 40%. CONCLUSIONS:Main pathogen of pediatric severe sepsis is G- bacteria in our hospital,and carbapenems-resistant K. pneumoniae is detected,to which should be pay attention. The multiple drug-resistant treatment should be adopted for pediatric severe sepsis caused by multiple drug-re-sistant bacteria. Antimicrobial agents should be selected rationally according to pathogen type and the results of drug sensitivity test.

20.
China Pharmacy ; (12): 1081-1084, 2016.
Article in Chinese | WPRIM | ID: wpr-501310

ABSTRACT

OBJECTIVE:To investigate the therapeutic efficacy of edaravone combined with citicoline sodium on acute cere-bral infarction and its effects on the levels of oxidative stress and inflammatory factors. METHODS:108 patients with acute cere-bral infarction were randomly divided into edaravone group(single group)and edaravone+citicoline sodium group(drug combina-tion group),with 54 cases in each group. Based on routine treatment,single group was given Edaravone injection 30 mg added in-to 100 ml 0.9% Sodium chloride injection intravenously,bid,used up within 30 min each time;drug combination group was addi-tionally given Citicoline sodium injection 0.5 g added into 250 ml 0.9% Sodium chloride injection intravenously,qd,on the basis of single group. Treatment course of 2 groups lasted for 2 weeks. NIHSS,HDS,Barthel index,oxidant stress indicator and inflam-matory factors were compared between 2 groups before and after treatment. RESULTS:After treatment,the effective rate of NI-HSS in drug combination group was 81.48%,which was significantly higher than single group(53.70%),with statistical signifi-cance (χ2=9.511,P=0.002). HDS score and Barthel index of 2 groups were significantly increased after treatment,especially in drug combination group,with statistical significance(P<0.05). Compared with before treatment,contents of MDA and ET-1 in 2 groups were decreased significantly,while SOD activity and NO content were increased significantly;the inflammatory cytokines IL-6,IL-8,IL-12 and IL-16,TNF-α were all decreased gradually,with statistical significance (P<0.05);the improvement of each indicator in drug combination group was more significant than single group,with statistical significance(P<0.05). CONCLU-SIONS:Edaravone combined with citicoline sodium show good therapeutic efficacy in the treatment of acute cerebral infarction, can decrease the levels of oxidative stress and inflammation and promote the recovery of the neurological function and the daily liv-ing ability.

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