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1.
Journal of Forensic Medicine ; (6): 98-109, 2022.
Artículo en Inglés | WPRIM | ID: wpr-984103

RESUMEN

OBJECTIVES@#To explore the research hotspots and development trends of the field of forensic drowning from 1991 to 2020 by bibliometrics methods.@*METHODS@#Based on Web of Science, CNKI database, Wanfang Data knowledge service platform, python 3.9.2, CiteSpace 5.8.R3, Gephi 0.9.2, etc. were used to analyze the publishing trends, countries/regions, institutions, authors and topics of the study on drowning.@*RESULTS@#A total of 631 English literature were obtained, including 59 articles from Chinese authors, and 386 Chinese literature were obtained. The Chinese and English journals with the largest number of related literatures were Chinese Journal of Forensic Science (80 articles) and Forensic Science International (106 articles), respectively. Japan published the most articles in English, and China ranked third. Osaka City Univ (Japan, 28 articles) published the most English articles, and Guangzhou Forens Sci Inst (China, 22 articles) ranked second. Among Chinese literature, Guangzhou Forens Sci Inst (32 articles) published the most. The topic analysis of Chinese and English literature showed that diatom examination, virtual autopsy, postmortem biochemical examination, the nature of death, and postmortem submersion interval were the hot spots of current research, but English literature had more studies on new technologies and methods, while Chinese literature was more inclined to practice, application and experience summary.@*CONCLUSIONS@#The number of literature in forensic medicine on drowning is relatively stable. The scope of international and domestic collaborations in this field is still limited. The automated examination of diatoms, the establishment of diatom DNA barcodes and virtual autopsy will be the most important research hotspots in the coming period and are expected to achieve breakthroughs in drowning diagnosis, drowning location inference, postmortem submersion interval estimation, etc.


Asunto(s)
Humanos , Bibliometría , China/epidemiología , Ahogamiento/diagnóstico , Medicina Legal , Publicaciones
2.
Journal of Forensic Medicine ; (6): 772-773, 2020.
Artículo en Chino | WPRIM | ID: wpr-985174

RESUMEN

Objective To understand the trend of funding in the field of forensic science by analyzing the projects funded by the National Natural Science Foundation of China (NSFC). Methods Based on the data of funded projects in the field of forensic science published on NSFC website in the twenty years from 2000 to 2019, the trend of project number and fund, project type, discipline type, funded institution and personnel were analyzed with metrological methods. The funding theme was analyzed through multi-methods. Results In the twenty years, NSFC funded 352 projects in the field of forensic science, including 9 project types, 47 institutions and 213 persons. General programs (184 projects), forensic toxicology, pathology, and toxicology analysis (H2301, 188 projects), and the Academy of Forensic Science (37 projects) had the most funded projects. NSFC funded 174.69 million yuan in the field of forensic science. The Excellent Young Scientists Fund (3.50 million yuan/project), forensic toxicology, pathology, and toxicology analysis (H2301, 78.64 million yuan), and Xi'an Jiaotong University (23.78 million yuan) had the most funding. The differences in the number and funding of subsidized projects between the first ten years and the last ten years had statistical significance (P<0.05). The main targets of funding were toxicology research, evidence-related research, estimation-related research, brain injury research, et al. The field of research mainly funded from 2010 to 2019 was interdisciplinary research. Conclusion Since 2010, the number of project, funding of project, the number of institutions and persons funded by NSFC in the field of forensic science showed an increasing trend. The types of disciplines, types of projects and themes of projects are more diverse, which will promote the long-term development of basic forensic research in China.


Asunto(s)
Humanos , China , Administración Financiera , Ciencias Forenses , Fundaciones , Disciplinas de las Ciencias Naturales
3.
Chinese Journal of Traumatology ; (6): 311-313, 2020.
Artículo en Inglés | WPRIM | ID: wpr-879645

RESUMEN

Intra-abdominal infection (IAI) is a deadly condition in which the outcome is associated with urgent diagnosis, assessment and management, including fluid resuscitation, antibiotic administration while obtaining further laboratory results, attaining precise measurements of hemodynamic status, and pursuing source control. This last item makes abdominal sepsis a unique treatment challenge. Delayed or inadequate source control is an independent predictor of poor outcomes and recognizing source control failure is often difficult or impossible. Further complicating issue in the debate is surrounding the timing, adequacy, and procedures of source control. This review evaluated and summarized the current approach and challenges in IAI management, which are the future research directions.


Asunto(s)
Humanos , Antibacterianos/administración & dosificación , Drenaje , Fluidoterapia , Hemodinámica , Infecciones Intraabdominales/terapia , Laparoscopía , Laparotomía , Pronóstico , Sepsis
4.
Journal of Forensic Medicine ; (6): 667-666, 2019.
Artículo en Inglés | WPRIM | ID: wpr-985061

RESUMEN

Objective To conduct bibliometrics analysis of forensic toxicology literature of mainland Chinese scholars published in SCIE journals between 1998 and 2018. Methods Gephi 0.9.2 software was used for bibliometrics analysis. The status of forensic toxicology research in mainland China was network visualized through data analysis of institutional cooperation, author collaboration, fund support, keywords co-occurrence as well as literature interpretation. Results The total number of papers published in SCIE journals in the past twenty years by mainland Chinese scholars was 242, and increased year by year. Thematic studies, such as analysis and evaluation of toxins in hair, identification of new psychoactive substances, optical enantiomer analysis of amphetamines, analysis of toxic animal and plant components, etc, reached the international advanced level. Conclusion The forensic toxicology discipline in our country has developed rapidly in recent years. The opening and development of forensic science in colleges and universities, the constant emerging of new research teams, especially the funding of major special projects of National Natural Science Foundation of China and the Ministry of Science and Technology, have promoted high level research output and academic status of Chinese forensic toxicology on the international stage.


Asunto(s)
Bibliometría , China , Ciencias Forenses/estadística & datos numéricos , Toxicología Forense/estadística & datos numéricos , Publicaciones Periódicas como Asunto
5.
Journal of Forensic Medicine ; (6): 30-38, 2019.
Artículo en Inglés | WPRIM | ID: wpr-984976

RESUMEN

OBJECTIVES@#To analyze the literature on forensic sciences indexed in Science Citation Index Expanded (SCIE) in recent 10 years, and to understand the research status, characteristics and trends in the field of forensic sciences.@*METHODS@#Literature on forensic sciences from 2008 to 2017 in Web of Science (WoS) was retrieved. The documents number and geographical distribution, document types, source titles, organizations, research areas, authors, funding agencies, and the high cited articles were detected. The impact factors (IF) of journals were retrieved in Journal Citation Reports (JCR). The data were analyzed with descriptive statistics.@*RESULTS@#From 2008 to 2017, there were 21 001 documents on forensic sciences in SCIE. The main document type was articles, with English as the major language. With regards to research areas, pathology has the largest number of papers worldwide, and genetics and heredity has the largest number of publications in mainland China. Among the 18 journals where the documents was published, Forensic Science International ranks the first on publication count, and Forensic Science International Genetics has the highest IF (5.637) in the JCR 2017. In 2017, the number of papers from mainland China increased by 48.50% compared with 2016, which was higher than the global increase (32.63%) and the top-5 countries in terms of number of publications (the US, Germany, the UK, Australia, Italy). The average document count per organization is 1.98 worldwide and 1.17 in mainland China, respectively. The publication number per author is 0.53 worldwide and 0.36 in mainland China, respectively. Around 28.17% of the publications were funded, with National Natural Science Foundation of China (NSFC) as the Top 1 funding agency (192 papers). Among the documents with citations, the most cited publication has been cited for 366 times.@*CONCLUSIONS@#The yearly numbers of publications on forensic sciences are increasing during recent 10 years. Focusing on the mainland China, there would be more high-quality papers with the steady funding of NSFC.


Asunto(s)
Ciencias Forenses , Factor de Impacto de la Revista
6.
Chinese Journal of Traumatology ; (6): 1-11, 2019.
Artículo en Inglés | WPRIM | ID: wpr-771636

RESUMEN

Vacuum sealing drainage (VSD) is frequently used in abdominal surgeries. However, relevant guidelines are rare. Chinese Trauma Surgeon Association organized a committee composed of 28 experts across China in July 2017, aiming to provide an evidence-based recommendation for the application of VSD in abdominal surgeries. Eleven questions regarding the use of VSD in abdominal surgeries were addressed: (1) which type of materials should be respectively chosen for the intraperitoneal cavity, retroperitoneal cavity and superficial incisions? (2) Can VSD be preventively used for a high-risk abdominal incision with primary suture? (3) Can VSD be used in severely contaminated/infected abdominal surgical sites? (4) Can VSD be used for temporary abdominal cavity closure under some special conditions such as severe abdominal trauma, infection, liver transplantation and intra-abdominal volume increment in abdominal compartment syndrome? (5) Can VSD be used in abdominal organ inflammation, injury, or postoperative drainage? (6) Can VSD be used in the treatment of intestinal fistula and pancreatic fistula? (7) Can VSD be used in the treatment of intra-abdominal and extra-peritoneal abscess? (8) Can VSD be used in the treatment of abdominal wall wounds, wound cavity, and defects? (9) Does VSD increase the risk of bleeding? (10) Does VSD increase the risk of intestinal wall injury? (11) Does VSD increase the risk of peritoneal adhesion? Focusing on these questions, evidence-based recommendations were given accordingly. VSD was strongly recommended regarding the questions 2-4. Weak recommendations were made regarding questions 1 and 5-11. Proper use of VSD in abdominal surgeries can lower the risk of infection in abdominal incisions with primary suture, treat severely contaminated/infected surgical sites and facilitate temporary abdominal cavity closure.


Asunto(s)
Humanos , Abdomen , Cirugía General , China , Drenaje , Métodos , Medicina Basada en la Evidencia , Guías de Práctica Clínica como Asunto , Sociedades Médicas , Infección de la Herida Quirúrgica , Traumatología , Vacio
7.
Chinese Journal of Cancer Biotherapy ; (6): 557-562, 2019.
Artículo en Chino | WPRIM | ID: wpr-798334

RESUMEN

@#Objective:To investigate the role of cyclo-oxygenase-2 (COX-2) in breast cancer metastasis and its possible mechanism. Methods: A total of 45 cases of primary breast cancer tissues and brain metastatic breast cancer tissues were collected from patients, who underwent mastectomy in Yunnan Cancer Hospital from October 2015 to April 2018, including 30 cases of primary lesions and 15 cases of brain metastasis. qPCR was used to detect the expression of COX-2 in breast cancer tissues and brain metastatic breast cancer tissues. Recombinant viruses with COX-2 over-expression (LV6-COX2) or COX-2 knockdown (LV3-COX2 shRNA1, LV3-COX2 shRNA2) were transfected into human breast cancer MDA-MB-231 cells; After obtaining the stable expression cell lines, the effect of COX-2 expression on the proliferation of MDA-MB-231 cells was detected by CCK-8, and the effects of COX-2 expression on the migration and invasion of MDA-MB-231 cells were detected by scratch test and Transwell assay, respectively. The mRNAand protein expressions of COX-2 in each group were examined by qPCR and WB, respectively. The effect of COX-2 expression on the expression of EMT-related genes in MDA-MB-231 cells was analyzed by qPCR. Results: The expression of COX-2 in tissues of patients with brain metastases was significantly higher than that in patients with primary breast cancer tissues (P<0.01), and it was correlated with tumor TMN stage in breast cancer patients. MDA-MB-231 cell lines with stable COX-2 over-expression/knockout were successfully constructed. Over-expression of COX-2 promoted the migration and invasion of MDA-MB-231 cells (all P<0.01), and significantly increased the expressions of MMP2, MMP1, N-cadherin and vimentin (all P<0.01), but exerted insignificant effect on cell proliferation. The effect of COX-2 silence exerted the opposite effect and promoted cell proliferation (P<0.05). Conclusion: COX-2 is highly expressed in brain metastatic breast cancer tissues, which may promote the migration and invasion of breast cancer MDA-MB-231 cells by regulating EMT processes.

8.
Journal of Medical Postgraduates ; (12): 1054-1056, 2018.
Artículo en Chino | WPRIM | ID: wpr-817978

RESUMEN

Objective Gastrointestinal fistula is a serious complication after operation. It is reported that the over-the-scope-clip(OTSC) can close intestinal full-thickness wall and treat gastrointestinal fistula effectively. This study was to investigate the efficacy of OTSC in the treatment of gastrointestinal fistula.Methods We analyzed the clinical data of 28 postoperative patients with gastrointestinal fistula who underwent endoscopic closure using OTSC in Endoscopy Center of Research Institute of General Surgery in our hospital from October 2014 to October 2017, and recorded the course of disease, the site of gastrointestinal fistula, the diameter of fistula and the efficacy of OTSC. Patients with successful closure were followed up for half a year after hospital discharge to observe the recurrence of fistula.Results Endoscopic closure with OTSC was successful in all the 28 patients without complications like bleeding and falling off. In the sinus tract or digestive tract radiography at 1-2 weeks after OTSC closure, 23 patients were successful in endoscopic closure(82.14%). In the six months′ follow-up of 23 patients with successful treatment, 4 patients were lost to follow-up and 19 patients were successful without recurrence of fistula.Conclusion The endoscopic closure of gastrointestinal fistula using OTSC is safe and effective, avoiding reoperation and reducing trauma.

9.
Chinese Medical Journal ; (24): 567-573, 2018.
Artículo en Inglés | WPRIM | ID: wpr-341996

RESUMEN

<p><b>Background</b>Intestinal fistula is one of the common complications of Crohn's disease (CD) that might require surgical treatment. The clinical characteristics and outcomes of CD with intestinal fistula are much different from CD alone. This study was to investigate whether the coagulation status of CD is changed by intestinal fistula.</p><p><b>Methods</b>Data were retrospectively analyzed for 190 patients with a definitive diagnosis of CD who were registered at the Jinling Hospital between January 2014 and September 2015. Baseline clinical characteristics and laboratory indices of initial admission and 7 days after intestinal fistula resections were collected. Student's t-test and the Wilcoxon rank-sum test were used to compare differences between the two groups.</p><p><b>Results</b>Compared with CD patients without intestinal fistula, prothrombin time (PT) in patients with intestinal fistula was significantly longer (12.13 ± 1.27 s vs. 13.18 ± 1.51 s, P < 0.001 in overall cohort; 11.56 ± 1.21 s vs. 12.61 ± 0.73 s, P = 0.001 in females; and 12.51 ± 1.17 s vs. 13.37 ± 1.66 s, P = 0.003 in males). Platelet (PLT) count was much lower in intestinal fistula group than in nonintestinal fistula group (262.53 ± 94.36 × 10/L vs. 310.36 ± 131.91 × 10/L, P = 0.009). Multivariate logistic regression showed that intestinal fistula was significantly associated with a prolonged PT (odds ratio [OR] = 1.900, P < 0.001), a reduced amount of PLT (OR = 0.996, P = 0.024), and an increased operation history (OR = 5.408, P < 0.001). Among 65 CD patients receiving intestinal fistula resections, PT was obviously shorter after operation than baseline (12.28 ± 1.16 s vs. 13.02 ± 1.64 s, P = 0.006).</p><p><b>Conclusions</b>Intestinal fistula was significantly associated with impaired coagulation status in patients complicated with CD. Coagulation status could be improved after intestinal fistula resections.</p>

10.
Journal of Forensic Medicine ; (6): 125-128, 2017.
Artículo en Chino | WPRIM | ID: wpr-984914

RESUMEN

OBJECTIVES@#To study the effect of different attentional conditions on the event-related potential (ERP) components generated by the visual information stimuli related to visual acuity, and provide a theoretical reference for clinical forensic visual objective evaluation.@*METHODS@#With visual acuity optotypes as normal form of visual information stimuli, 15 volunteers as study subjects were supposed to account the visual acuity optotypes under the attentional condition of visual stimuli. Furthermore, the subjects were required to listen to the storytelling carefully under the non-attentional condition of visual stimuli, and after the examination, they needed to answer the story-related questions. All the EEG results of two different attentional conditions from the subjects were recorded by 32 channel ERP system.@*RESULTS@#Under two attentional conditions, P₁ and P₃₀₀ components were evoked by the visual acuity optotypes on supra-threshold and threshold visual acuity levels, while only P₁ component were evoked by the visual acuity optotypes on sub-threshold levels. In the ERP waveforms evoked by the visual acuity optotypes on supra-threshold, P₁ and P₃₀₀ amplitudes under attentional condition were larger than that under non-attentional condition.@*CONCLUSIONS@#Attentional conditions can influence the detection of visual acuity. P₃₀₀ component can be used to distinguish the visual acuity levels with supra-threshold and sub-threshold under non-attentional condition.


Asunto(s)
Humanos , Atención/fisiología , Electroencefalografía , Potenciales Evocados , Potenciales Evocados Visuales , Agudeza Visual
11.
Neurology Asia ; : 165-169, 2017.
Artículo en Inglés | WPRIM | ID: wpr-625496

RESUMEN

Methylacetoacetyl-CoA thiolase deficiency (T2 deficiency) is a rare congenital and metabolic disease affecting the ketone body and isoleucine metabolism. The typical symptoms are refractory metabolic acidosis, in which large amounts of 2-methyl-3-hydroxybutyry1 carnitine, 2-methyl-3-hydroxybutyrate and tiglylglycine are often detected in the blood and urine. We herein describe an atypical case of T2 deficiency with a high level of 3-hydroxybutyrate and a low level of 2-methyl-3-hydroxybutyrate in the urine. Such a case was diagnosed by urinary organic analysis in combination with gene mutation evaluation. Organic acids in the urine were measured using a gas chromatography mass spectrometer and all exons were sequenced via deep sequencing. Molecular biology analysis confirmed the presence of a homozygous mutation in the acetyl-CoA acetyltransferase 1 (ACAT1) gene. The patient received a special diet of deeply hydrolyzed protein milk powder and raw corn starch. She was followed about 6 months. There were no ketoacidotic episodes and hypoglycemia even when she had fever. In conclusion, patients with atypical features of T2 deficiency should also be investigated early. Gas chromatography mass spectrometry and next-generation full exome sequencing may be helpful in diagnosis.

12.
Chinese Journal of Contemporary Pediatrics ; (12): 560-564, 2015.
Artículo en Chino | WPRIM | ID: wpr-346106

RESUMEN

<p><b>OBJECTIVE</b>To study the association between two single nucleotide polymorphisms (SNP), rs2295080 and rs2536, in mammalian target of rapamycin (mTOR) gene and the susceptibility to pediatric epilepsy.</p><p><b>METHODS</b>A case- control study was performed on 480 children with epilepsy (116 cases of refractory epilepsy) and 503 healthy children. SNP rs2295080 and rs2536 in the mTOR gene were detected by polymerase chain reaction restriction and fragment length polymorphisms (PCR-RFLP). Genotype and allele frequencies of SNP rs2295080 and rs2536 were compared between the children with epilepsy and healthy controls.</p><p><b>RESULTS</b>There were no significant differences in the genotype and allele frequencies of SNP rs2295080 between the children with epilepsy and healthy controls. There were no significant differences in the genotype frequencies of SNP rs2536 between the two groups either, but the frequency of G allele of SNP rs2536 was higher in children with epilepsy than that in healthy controls (P=0.042, OR=1.344, 95%CI: 1.010-1.789).</p><p><b>CONCLUSIONS</b>SNP rs2536 of mTOR gene may be associated with the risk of pediatric epilepsy.</p>


Asunto(s)
Humanos , Epilepsia , Genética , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Genotipo , Polimorfismo de Nucleótido Simple , Riesgo , Serina-Treonina Quinasas TOR , Genética
13.
Chinese Medical Journal ; (24): 3083-3087, 2015.
Artículo en Inglés | WPRIM | ID: wpr-275563

RESUMEN

<p><b>BACKGROUND</b>Na + /Ca 2+ exchanger (NCX) plays a crucial role in pentylenetetrazol-induced convulsion. However, it is unclear whether NCX is critically involved in hyperthermia-induced convulsion. In this study, we examined the potential changes in NCX3 in the hippocampus and cerebrocortex of rats with hyperthermia-induced convulsion.</p><p><b>METHODS</b>Twenty-one Sprague Dawley rats were randomly assigned to control group, convulsion-prone group and convulsion-resistant group (n = 7 in each group). Whole-cell patch-clamp method was used to record NCX currents. Both the Western blotting analysis and immunofluorescence labeling techniques were used to examine the expression of NCX3.</p><p><b>RESULTS</b>NCX currents were decreased in rats after febrile convulsion. Compared to the control group, NCX3 expression was decreased by about 40% and 50% in the hippocampus and cerebrocortex of convulsion-prone rats, respectively. Furthermore, the extent of reduction in NCX3 expression seemed to correlate with the number of seizures.</p><p><b>CONCLUSIONS</b>There is a significant reduction in NCX3 expression in rats with febrile convulsions. Our findings also indicate a potential link between NCX3 expression, febrile convulsion in early childhood, and adult onset of epilepsy.</p>


Asunto(s)
Animales , Femenino , Embarazo , Ratas , Corteza Cerebral , Metabolismo , Regulación hacia Abajo , Fiebre , Hipocampo , Metabolismo , Ratas Sprague-Dawley , Convulsiones , Metabolismo , Intercambiador de Sodio-Calcio , Metabolismo
14.
Journal of Huazhong University of Science and Technology (Medical Sciences) ; (6): 146-150, 2014.
Artículo en Inglés | WPRIM | ID: wpr-351107

RESUMEN

Previous studies have demonstrated a strong association between carbamazepine (CBZ)-induced Stevens-Johnson syndrome (SJS) and HLA-B*1502 in Han Chinese. Here, we extended the study of HLA-B*1502 susceptibility to two different antiepileptic drugs, oxcarbazepine (OXC) and phenobarbital (PB). In addition, we genotyped HLA-B*1511 in a case of CBZ-induced SJS with genotype negative for HLA-B*1502. The presence of HLA-B*1502 was determined using polymerase chain reaction with sequence-specific primers (PCR-SSP). Moreover, we genotyped HLA-B*1502 in 17 cases of antiepileptic drugs (AEDs)-induced cutaneous adverse drug reactions (cADRs), in comparison with AEDs-tolerant (n=32) and normal controls (n=38) in the central region of China. The data showed that HLA-B*1502 was positive in 5 of 6 cases of AEDs-induced SJS (4 CBZ, 1 OXC and 1 PB), which was significantly more frequent than AEDs-tolerant (2/32, 18 CBZ, 6 PB and 8 OXC) and normal controls (3/38). Compared with AEDs-tolerant and normal controls, the OR for patients carrying the HLA-B*1502 with AEDs-induced SJS was 6.25 (95% CI: 1.06-36.74) and 4.86 (95% CI: 1.01-23.47). The sensitivity and specificity of HLA-B*1502 for prediction of AEDs-induced SJS were 71.4%. The sensitivity and specificity of HLA-B*1502 for prediction of CBZ-induced SJS were 60% and 94%. HLA-B*1502 was not found in 11 children with maculopapular exanthema (MPE) (n=9) and hypersensitivity syndrome (HSS) (n=2). However, we also found one case of CBZ-induced SJS who was negative for HLA-B*1502 but carried HLA-B*1511. It was suggested that the association between the CBZ-induced SJS and HLA-B*1502 allele in Han Chinese children can extend to other aromatic AEDs including OXC and PB related SJS. HLA-B*1511 may be a risk factor for some patients with CBZ-induced SJS negative for HLA-B*1502.


Asunto(s)
Adolescente , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Alelos , Anticonvulsivantes , Pueblo Asiatico , Genética , Carbamazepina , China , Predisposición Genética a la Enfermedad , Etnología , Genética , Genotipo , Antígeno HLA-B15 , Genética , Fenobarbital , Reacción en Cadena de la Polimerasa , Síndrome de Stevens-Johnson , Etnología , Genética
15.
Chinese Journal of Contemporary Pediatrics ; (12): 393-396, 2014.
Artículo en Chino | WPRIM | ID: wpr-269465

RESUMEN

<p><b>OBJECTIVE</b>To study the clinical features and mutations in methyl-CpG-binding protein 2 (MECP2) gene among children with classical Rett syndrome in China.</p><p><b>METHODS</b>PCR and direct sequencing were employed to analyze the three exons of MECP2 gene in 9 children recently diagnosed with Rett syndrome and their parents.</p><p><b>RESULTS</b>Heterozygous mutations were identified in 5 out of 9 patients, with a mutation rate of over 50%; there was one case of insert mutation (c.913insT) and 4 cases of missense mutation (exon 3: c.316C>T (R106W); exon 4: c.502C>T (R168X), c.808C>T (R270X), and c.1126C>T (P376S). A new mutation (c.913insT) was found. No mutations were detected in their parents. Two patients had MECP2 mutations in the transcriptional repression domain (TRD). They had almost lost language functions and were found to have significantly delayed development compared with other patients.</p><p><b>CONCLUSIONS</b>Mutations in MECP2 gene were detected in 5 confirmed cases of Rett syndrome, and most of them were on exon 4. Mutations in the TRD of MECP2 protein may affect the language ability and development in children with Rett syndrome.</p>


Asunto(s)
Preescolar , Femenino , Humanos , Lactante , Desarrollo del Lenguaje , Proteína 2 de Unión a Metil-CpG , Genética , Mutación , Síndrome de Rett , Genética , Psicología
16.
Journal of Huazhong University of Science and Technology (Medical Sciences) ; (6): 146-50, 2014.
Artículo en Inglés | WPRIM | ID: wpr-636526

RESUMEN

Previous studies have demonstrated a strong association between carbamazepine (CBZ)-induced Stevens-Johnson syndrome (SJS) and HLA-B*1502 in Han Chinese. Here, we extended the study of HLA-B*1502 susceptibility to two different antiepileptic drugs, oxcarbazepine (OXC) and phenobabital (PB). In addition, we genotyped HLA-B*1511 in a case of CBZ-induced SJS with genotype negative for HLA-B*1502. The presence of HLA-B*1502 was determined using polymerase chain reaction with sequence-specific primers (PCR-SSP). Moreover, we genotyped HLA-B*1502 in 17 cases of antiepileptic drugs (AEDs)-induced cutaneous adverse drug reactions (cADRs), in comparison with AEDs-tolerant (n=32) and normal controls (n=38) in the central region of China. The data showed that HLA-B*1502 was positive in 5 of 6 cases of AEDs-induced SJS (4 CBZ, 1 OXC and 1 PB), which was significantly more frequent than AEDs-tolerant (2/32, 18 CBZ, 6 PB and 8 OXC) and normal controls (3/38). Compared with AEDs-tolerant and normal controls, the OR for patients carrying the HLA-B*1502 with AEDs-induced SJS was 6.25 (95% CI: 1.06-36.74) and 4.86 (95% CI: 1.01-23.47). The sensitivity and specificity of HLA-B*1502 for prediction of AEDs-induced SJS were 71.4%. The sensitivity and specificity of HLA-B*1502 for prediction of CBZ-induced SJS were 60% and 94%. HLA-B*1502 was not found in 11 children with maculopapular exanthema (MPE) (n=9) and hypersensitivity syndrome (HSS) (n=2). However, we also found one case of CBZ-induced SJS who was negative for HLA-B*1502 but carried HLA-B*1511. It was suggested that the association between the CBZ-induced SJS and HLA-B*1502 allele in Han Chinese children can extend to other aromatic AEDs including OXC and PB related SJS. HLA-B*1511 may be a risk factor for some patients with CBZ-induced SJS negative for HLA-B*1502.

17.
Chinese Journal of Pediatrics ; (12): 362-366, 2013.
Artículo en Chino | WPRIM | ID: wpr-359737

RESUMEN

<p><b>OBJECTIVE</b>To investigate the effect of ketogenic diet (KD) on the clinical and electroencephalogram features in children with pharmacoresistant epileptic encephalopathy.</p><p><b>METHOD</b>Thirty-one children (19 boys, 12 girls) aged 7 months to 7 years (mean 2 years 5 month) with epilepsy refractory to conventional antiepileptic drugs (AEDs) were included in this study. In addition to their original AED treatment, the children were assigned to different ketogenic diets based on their age. The prospective electro-clinical assessment was performed prior to the KD and then one week, one month and again 3 months after the initiation of therapy, respectively.</p><p><b>RESULT</b>The reduction of seizure frequency in 52%, 68% and 71% of all patients exceeded 50% one week, one month and three months after KD treatment respectively. KD is particularly effective in myoclonic astatic epilepsy (MAE; Doose Syndrome) and West syndrome with 100% and 81.25% of the patients having a greater than 50% seizure reduction, respectively. After 3 months of KD treatment, more than 2/3 patients experienced a reduction in interictal epileptiform discharges (IEDs) and improvement in EEG background.</p><p><b>CONCLUSION</b>The clinical and electroencephalographic improvement confirms that KD is beneficial in children with refractory epilepsy.</p>


Asunto(s)
Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Anticonvulsivantes , Usos Terapéuticos , Encéfalo , Diagnóstico por Imagen , Dieta Cetogénica , Métodos , Grasas de la Dieta , Electroencefalografía , Epilepsia , Diagnóstico , Dietoterapia , Quimioterapia , Discapacidad Intelectual , Dietoterapia , Quimioterapia , Síndrome de Lennox-Gastaut , Radiografía , Estudios Retrospectivos , Espasmos Infantiles , Dietoterapia , Quimioterapia , Síndrome , Factores de Tiempo , Resultado del Tratamiento
18.
Chinese Medical Journal ; (24): 2405-2410, 2012.
Artículo en Inglés | WPRIM | ID: wpr-283751

RESUMEN

<p><b>BACKGROUND</b>There is little information of non-perianal fistulating Crohn's disease in the consensus published by the European Crohn's and Colitis Organization in 2006 and 2010. This study was designed to demonstrate the clinical characteristics of non-perianal fistulating Crohn's disease among homogenous Chinese population.</p><p><b>METHODS</b>One-hundred-and-eighty-four patients were retrospectively collected. All of these patients were diagnosed of Crohn's disease between February 2001 and April 2011.</p><p><b>RESULTS</b>The male-to-female ratio was 2.7:1. The most common symptoms at onset were abdominal pain (88.0%), diarrhea (34.7%), and fever (28.3%). The most common disease location and behavior at diagnosis were small bowel (56.0%) and penetrating (51.6%). Among 324 non-perianal fistulae, the most common types were ileocolonic anastomotic (30.9%), terminal ileocutaneous (19.7%), and enteroenteric anastomotic (11.4%). One-hundred-and-thirty- eight (75.0%) patients received antibiotics, and β-lactam (85.5%) and metronidazole (67.4%) are most frequently used. One-hundred-and-seventy-eight (96.7%) patients suffered 514 surgical operations, and the cumulative surgical rates after 1, 3, and 5 years were 38.0%, 52.2%, and 58.7% respectively. Nine patients died during the follow-up period, and the cumulative survival rates after 1, 3, and 5 years were 97.8%, 96.7%, and 96.2% respectively.</p><p><b>CONCLUSIONS</b>This study displayed the clinical characteristics of non-perianal fistulating Crohn's disease in our center. Large population-based studies are required for further investigation in China.</p>


Asunto(s)
Adolescente , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , China , Enfermedad de Crohn , Quimioterapia , Mortalidad , Patología , Cirugía General , Medicamentos Herbarios Chinos , Usos Terapéuticos , Glicósidos , Usos Terapéuticos , Fístula Rectal , Quimioterapia , Mortalidad , Patología , Cirugía General , Tripterygium , Química
19.
Chinese Journal of Contemporary Pediatrics ; (12): 285-287, 2011.
Artículo en Chino | WPRIM | ID: wpr-308810

RESUMEN

<p><b>OBJECTIVE</b>To study the effects of TNF-α on ICAM-1 and LFA-1 expression in peripheral blood mononuclear cells (PBMC) of children with febrile seizures (FS).</p><p><b>METHODS</b>Sixteen children with FS and 16 age- and gender-matched healthy children were enrolled. The samples of PBMC from FS children were randomized into two groups with or without TNF-α treatment (TNF-α concentration 1.0 ng/mL). PBMC were purified and cultured with a conventional method in vitro. The expression of ICAM-1 and LFA-1 in PBMC was determined by flow cytometry (FCM).</p><p><b>RESULTS</b>ICAM-1[(20±9)% vs (14±7)%)]and LFA-1[(43±16)% vs (30±16)%]expression in PBMC in the untreated FS group was significantly higher than that in the normal control group (P<0.05). Compared with the untreated FS group, the treatment with TNF-α remarkably increased the ICAM-1 expression[(27±11)%](P<0.05). PBMC LFA-1 expression[(52±21)%]in the TNF-α-treated group was higher than that in the untreated FS group, although there were no statistical differences between the two groups.</p><p><b>CONCLUSIONS</b>TNF-α treatment may increase LFA-1 and ICAM-1 expression in PBMC of children with FS.</p>


Asunto(s)
Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Molécula 1 de Adhesión Intercelular , Sangre , Leucocitos Mononucleares , Química , Antígeno-1 Asociado a Función de Linfocito , Sangre , Convulsiones Febriles , Alergia e Inmunología , Factor de Necrosis Tumoral alfa , Farmacología
20.
Journal of Forensic Medicine ; (6): 97-103, 2010.
Artículo en Chino | WPRIM | ID: wpr-983547

RESUMEN

OBJECTIVE@#To study the difference of Han female adolescent bone development in Henan and Zhejiang province.@*METHODS@#All radiography including sternal end of clavicle and six main bone joints were taken from 599 female adolescents with age between 12 to 19 in Henan and Zhejiang province. Twenty four skeletal development indexes were analyzed based on "The Grading Standards" of skeletal growth of teenagers and then the bone age were calculated using mathematical model functions. The ratios of the bone age and the chronological age were analyzed by statistical software.@*RESULTS@#The development of Henan female adolescents' skeleton was about 0.39 years earlier than that in Zhejiang at the age of 14-15 years old. The development of Henan female adolescents' skeleton was about 0.37 years later than that in Zhejiang at the age of 15-16 years old. The development of Henan female adolescents' skeleton was about 0.38 years later than that in Zhejiang at the age of 18-19 years old. There was no statistics significance in other age group.@*CONCLUSION@#The female adolescent bone development in Henan province is faster at earlier stage and then slower than that in Zhejiang province. The results provide potential value for the forensic medicine, anthropology and clinical medicine.


Asunto(s)
Adolescente , Niño , Femenino , Humanos , Adulto Joven , Determinación de la Edad por el Esqueleto/métodos , Factores de Edad , Análisis de Varianza , Desarrollo Óseo/fisiología , China/etnología , Clavícula/diagnóstico por imagen , Epífisis/fisiología , Antropología Forense/métodos , Articulaciones/fisiología , Modelos Teóricos , Muestreo , Esternón/diagnóstico por imagen , Tomógrafos Computarizados por Rayos X
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