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1.
Journal of Experimental Hematology ; (6): 183-188, 2023.
Artículo en Chino | WPRIM | ID: wpr-971122

RESUMEN

OBJECTIVE@#To investigate the molecular mechanism of the disease based on the clinical characterization and genetic mutation analysis in a family with hereditary spherocytosis.@*METHODS@#The proband with jaundice and anemia was referred to Yidu Central Hospital of Weifang in May 2021. Peripheral blood samples were collected from six members of the family. Second-generation sequencing was used to screen the pathological mutations, and the clinically significant variant sites were selected. Then the relevant databases were used to analyze the variant sites, and RT-qPCR was used to detect the relative mRNA levels of candidate gene. The structure and function of SPTB protein were analyzed by UniProt and SMART databases.@*RESULTS@#We infer that the SPTB gene copy number variation (CNV) deletion was co-segregated with the phenotype of the patients in this family based on the results of second-generation sequencing (about 700 target genes). The UCSC Genome Browser demonstrated that the deleted region was mainly located in exon2-3 of SPTB gene. The results of RT-qPCR showed that the relative SPTB mRNA levels of all patients were lower than the healthy control. UniProt and SMART databases analysis showed that SPTB protein without CH1 and CH2 domains could not bind to erythrocyte membrane actin.@*CONCLUSION@#The CNV deletion of SPTB gene may be the reason for the hereditary spherocytosis in this family.


Asunto(s)
Humanos , Variaciones en el Número de Copia de ADN , Pueblos del Este de Asia , Mutación , Linaje , Espectrina/genética , Esferocitosis Hereditaria/diagnóstico
2.
Chinese Journal of Blood Transfusion ; (12): 1140-1142, 2023.
Artículo en Chino | WPRIM | ID: wpr-1003951

RESUMEN

【Objective】 To investigate the possible molecular pathogenesis of a child with hemophilia A accompanied by coagulation factor Ⅺ reduction by testing coagulation-related indicators and genotyping in the child and his family. 【Methods】 Peripheral blood from the patient and his parents for detection of coagulation factors Ⅷ, Ⅸ, Ⅺ, Ⅻ, VWF∶Ag, lupus anticoagulants and F VIII, F XI inhibitors were collected. All exons and flanking sequences of the genes encoding FⅧ and FⅪ were sequenced and bioinformatically analyzed. 【Results】 The child had low FⅧ and FⅪ activity and no parental abnormalities were observed. The sequencing results showed that there was a c. 1834(exon12) C>T heterozygous mutation in the FⅧ gene and a c. 1817 (exon15) G>A heterozygous mutation in the FⅪ gene, which was de novo. Bioinformatics analysis shows that the FⅪ mutation changes the original protein structure and increases the number of carboxyl groups. 【Conclusion】 For patients with prolonged APTT, in addition to excluding factors that interfere with APTT testing, all coagulation factors related to APTT should be tested to clarify the diagnosis.

3.
Braz. J. Psychiatry (São Paulo, 1999, Impr.) ; 45(3): 280-285, May-June 2023.
Artículo en Inglés | LILACS-Express | LILACS | ID: biblio-1447587

RESUMEN

Objectives: We assessed the efficacy of cognitive behavioral therapy and bupropion compared to cognitive behavioral therapy alone for methamphetamine use disorder. Methods: The selection criteria for this systematic review study with meta-analysis were randomized clinical trials on the efficacy of cognitive behavioral therapy and bupropion in the treatment for methamphetamine use disorder (assessed by urine metabolites). The search was conducted in PubMed, PubMed Central, LILACS, SciELO, Cochrane Library, SCOPUS, Google Scholar, Ovid Medline, Clinicaltrials.gov, and the International Clinical Trials Registry Platform. The primary outcome was relapse. Risk of bias was assessed with the RoB 2 tool. The results of each clinical trial were input into an Excel spreadsheet. We performed a meta-analysis using relative risk and a 95%CI. Results: Of the 597 initial articles (498 after removing duplicate records), five were included in the meta-analysis, with an aggregate sample of 539 patients. An overall relative risk of 0.91 (95%CI 0.78-1.05) was estimated for relapse. Conclusion: Our study limitations included publication bias and heterogeneous populations. We found no evidence that cognitive behavioral therapy and bupropion reduced the risk of relapse compared to cognitive behavioral therapy and placebo.

4.
Artículo en Español | LILACS | ID: biblio-1428415

RESUMEN

El manejo farmacológico del episodio depresivo en contexto del trastorno bipolar constituye un desafío para el clínico tanto en psiquiatría adultos como infantoadolescente. El presente trabajo tiene por objetivo actualizar y sintetizar la evidencia disponible respecto al manejo farmacológico para la depresión bipolar en población pediátrica. Metodología: Se realizó una búsqueda de las publicaciones de los últimos 5 años en bases de datos. Resultados: La evidencia muestra como primera línea el uso de antipsicóticos de segunda generación por sobre los estabilizadores del ánimo en este grupo etario; demostrando lurasidona y lanzapina/fluoxetina eficacia similares. Lurasidona es una opción con mejor perfil de seguridad por asociarse a menos efectos adversos y mejor adherencia. El uso de antidepresivos debe considerarse dentro de los pasos iniciales del manejo, asociado a un antipsicótico de segunda generación. Conclusiones: Se destaca la importancia de la sospecha, evaluación y diagnóstico adecuado para guiar la decisión de manejo integral. A pesar de los riesgos y consideraciones existentes, es importante considerar el uso en primera línea de antipsicóticos de segunda generación y de antidepresivos en el manejo de un cuadro depresivo en contexto de la enfermedad bipolar. La escasez de estudios en el tratamiento farmacológico de la depresión bipolar en general y especialmente en población pediátrica limita la generalización y extrapolación de los resultados a la realidad local.


The pharmacological management of the depressive episode in the context of bipolar disorder constitutes a challenge for the clinician both in adult and child-adolescent population. The objective of this paper is to update and synthesize the available evidence regarding the pharmacological management of bipolar depression in the pediatric population. Methodology: A search of the publications of the last 5 years in databases was carried out. Results: The evidence shows the use of second generation antipsychotics over mood stabilizers as the first line in this age group; demonstrating similar efficacy. Results: The evidence shows the use of second generation antipsychotics over mood stabilizers as the first line in this age group; demonstrating similar efficacy lurasidone and lanzapine/fluoxetine. Lurasidone is an option with a better safety profile as it is associated with fewer adverse effects and better adherence. The use of antidepressants should be considered within the initial steps of management, associated with a second generation antipsychotic. Conclusions: The importance of suspicion, evaluation and adequate diagnosis to guide the decision of comprehensive management is highlighted. Despite the existing risks and considerations, it is important to consider the first-line use of second-generation antipsychotics and antidepressants in the management of a depressive episode in the context of bipolar illness. The scarcity of studies on the pharmacological treatment of bipolar depression in general and especially in the pediatric population limits the generalization and extrapolation of the results to the local reality.


Asunto(s)
Humanos , Niño , Adolescente , Trastorno Bipolar/tratamiento farmacológico , Antidepresivos de Segunda Generación/uso terapéutico , Depresión/tratamiento farmacológico , Antipsicóticos/uso terapéutico , Clorhidrato de Lurasidona/uso terapéutico , Olanzapina/uso terapéutico
5.
Rev. colomb. bioét ; 17(1)jun. 2022.
Artículo en Español | LILACS-Express | LILACS | ID: biblio-1535755

RESUMEN

Propósito/Contexto. En este artículo se exponen las tendencias y las características de un modelo de negocio que la industria farmacéutica ha venido imponiendo con la ayuda del desarrollo de nuevos medicamentos a los que se les cuestiona su "altura inventiva" y que, a pesar de ello, les son otorgadas las patentes de segunda generación, considerándose esta una práctica abusiva y que favorece el incremento de los precios de estas innovaciones en el mercado. Metodología/Enfoque. Mediante la presentación de un caso: "la declaración de interés público del medicamento imatinib en Colombia" se identifican las estrategias y las maniobras anticompetitivas que dejan pocas oportunidades a los Estados para distribuir de manera equitativa los beneficios de las invenciones de medicamentos. En el análisis bioético del caso se caracteriza el dilema como tipo práctico, esto es, aquel en el que persisten requerimientos morales en tensión con un interés privado, en esta ocasión, entre la salud pública, por un lado, y la propiedad intelectual como política internacional, por el otro. Resultados/Hallazgos. La tesis es que este es un problema transfronterizo sintomático de la falta de justicia global en razón a la suplantación del sentido de "bien común" que ha acallado los vínculos sociales, solidarios y colaborativos. Discusión/Conclusiones/Contribuciones. Se insta a un consenso sobre las bases sociales y el respeto de la dignidad de las personas, un mandato de solidaridad superior en beneficio del bien común y el "florecimiento de la humanidad".


Objetivo/Contexto. Este artigo expõe as tendências e características de um modelo de negócio que a indústria farmacêutica tem vindo a impor com a ajuda do desenvolvimento de novos medicamentos cujo nível de inventividade é questionado. Como resultado, é-lhes concedidas patentes de segunda geração, o que é considerado uma prática abusiva e favorece o aumento dos preços destes inovações no mercado. Metodologia/Abordagem. Através da apresentação de um caso "A Declaração de Interesse Público da droga Imatinib na Colômbia", são identificadas estratégias e manobras anticompetitivas, que deixam poucas oportunidades para os Estados distribuírem os benefícios das invenções de drogas de forma equitativa. Na análise bioética do caso, o dilema é especificado como sendo prático, ou seja, um dilema em que os requisitos morais persistem em tensão com um interesse privado, neste caso, entre a saúde pública, por um lado, e a propriedade intelectual como uma política internacional, por outro. Resultados/Descobertas. A tese é que se trata de um problema transfronteiriço sintomático de falta de justiça global devido à suplência de um senso o bem comum que silenciou os laços sociais de solidariedade e colaboração. Discussão/Conclusões/Contribuições. Apela a um consenso sobre os fundamentos sociais e o respeito pela dignidade das pessoas, um mandato de maior solidariedade em benefício do bem comum, o florescimento da humanidade.


Purpose/Background. This article exposes the tendencies and characteristics of a business model that the pharmaceutical industry has been imposing with the help of the development of new drugs whose degree of inventiveness is questioned. As a result, they are granted second generation patents, which is considered an abusive practice that favors the increase of the prices of these innovations in the market. Methodology/Approach. Through the presentation of a case "The Declaration of Public Interest of the Drug Imatinib in Colombia", anti-competitive stra-tegies and maneuvers are identified, which leave few opportunities for the States to distribute the benefits of drug inventions in an equitable manner. In the bioethical analysis of the case, the dilemma is specified as a practical one, that is, one in which moral requirements persist in tension with a private interest, in this case, between public health on the one hand, and intellectual property as an international policy, on the other. Results/Findings. The thesis is that this is a cross-border problem symptomatic of a lack of global justice due to the supplanting of the sense of the common good that has silenced social bonds of solidarity and collaboration. Discussion/Conclusions/Contributions. It calls for a consensus on social foundations and respect for the dignity of persons, a higher mandate of solidarity for the benefit of the common good, and the flourishing of humanity.

6.
Chinese Pediatric Emergency Medicine ; (12): 696-700, 2022.
Artículo en Chino | WPRIM | ID: wpr-955131

RESUMEN

Objective:To investigate the clinical characteristics and prognosis factors in children with pneumocystis carinii pneumonia (PCP) without human immunodeficiency virus (HIV) infected.Methods:From January 2017 to December 2020, 35 non-HIV infected patients with PCP were admitted to Hunan Children′s Hospital.According to the prognosis at discharge, they were divided into survival group and death group.The clinical characteristics of two groups were compared, and the prognostic factors were analyzed.Results:The age of 35 patients ranged from 1 month to 15 years, including 24 males and 11 females.Seven patients(20.0%) had primary immunodeficiency, 5 patients(14.2%) had autoimmune disease, and 4 patients(11.4%) had renal disease.Eighteen patients were treated with long-term hormone and 13 patients were treated with immunosuppressive agents before the onset of the disease.Clinical symptoms included shortness of breath or dyspnea, cough, fever and so on, while with few pulmonary signs.Peripheral blood lymphocyte count was less than 1.5×10 9/L in 18 cases.The median LDH was(654.94±57.66)U/L; Fungal D-glucan increased in 13 cases.The median P/F was(121.29±23.25)mmHg, and P/F was less than 200 mmHg in 16 cases.CD4 cells were less than 500/μL in 15 cases and less than 200/μL in 8 cases.The imaging findings were mainly consolidation or patellar shadow, diffuse ground glass shadow, 3 cases with pleural effusion, and 1 case with pneumothorax.Twenty-two cases survived and 13 died, with a mortality rate of 37.1%.There were statistically significant differences in hospitalization days, CD4 cell count, Fungal D-glucan, P/F, ICU admission and invasive mechanical ventilation between two groups( P<0.05). Logistic multivariate analysis showed that decreased P/F value was an independent risk factor affecting the prognosis of non-HIV infected children with PCP ( OR=0.006, 95% CI 0.975-1.000). Conclusion:The clinical manifestations, laboratory examinations and imaging examinations of non-HIV infected patients with PCP lack specificity.When a diagnosis is suspected, high-resolution CT should be performed based on the results of peripheral blood lymphocyte count, CD4 cell count, fungal D, LDH, and blood gas analysis results as soon as possible, compound sulfamethoxazole should be used timely.Decreased P/F value is an independent factor affecting the prognosis of non-HIV children with PCP.

7.
Chinese Pediatric Emergency Medicine ; (12): 696-700, 2022.
Artículo en Chino | WPRIM | ID: wpr-955119

RESUMEN

Objective:To investigate the clinical characteristics and prognosis factors in children with pneumocystis carinii pneumonia (PCP) without human immunodeficiency virus (HIV) infected.Methods:From January 2017 to December 2020, 35 non-HIV infected patients with PCP were admitted to Hunan Children′s Hospital.According to the prognosis at discharge, they were divided into survival group and death group.The clinical characteristics of two groups were compared, and the prognostic factors were analyzed.Results:The age of 35 patients ranged from 1 month to 15 years, including 24 males and 11 females.Seven patients(20.0%) had primary immunodeficiency, 5 patients(14.2%) had autoimmune disease, and 4 patients(11.4%) had renal disease.Eighteen patients were treated with long-term hormone and 13 patients were treated with immunosuppressive agents before the onset of the disease.Clinical symptoms included shortness of breath or dyspnea, cough, fever and so on, while with few pulmonary signs.Peripheral blood lymphocyte count was less than 1.5×10 9/L in 18 cases.The median LDH was(654.94±57.66)U/L; Fungal D-glucan increased in 13 cases.The median P/F was(121.29±23.25)mmHg, and P/F was less than 200 mmHg in 16 cases.CD4 cells were less than 500/μL in 15 cases and less than 200/μL in 8 cases.The imaging findings were mainly consolidation or patellar shadow, diffuse ground glass shadow, 3 cases with pleural effusion, and 1 case with pneumothorax.Twenty-two cases survived and 13 died, with a mortality rate of 37.1%.There were statistically significant differences in hospitalization days, CD4 cell count, Fungal D-glucan, P/F, ICU admission and invasive mechanical ventilation between two groups( P<0.05). Logistic multivariate analysis showed that decreased P/F value was an independent risk factor affecting the prognosis of non-HIV infected children with PCP ( OR=0.006, 95% CI 0.975-1.000). Conclusion:The clinical manifestations, laboratory examinations and imaging examinations of non-HIV infected patients with PCP lack specificity.When a diagnosis is suspected, high-resolution CT should be performed based on the results of peripheral blood lymphocyte count, CD4 cell count, fungal D, LDH, and blood gas analysis results as soon as possible, compound sulfamethoxazole should be used timely.Decreased P/F value is an independent factor affecting the prognosis of non-HIV children with PCP.

8.
Journal of Leukemia & Lymphoma ; (12): 739-743, 2021.
Artículo en Chino | WPRIM | ID: wpr-929721

RESUMEN

Objective:To investigate the histopathological morphology, immunophenotype, molecular pathological features, clinical prognosis and treatment of monomorphic epithelial intestinal T-cell lymphoma (MEITL).Methods:The clinicopathological data of 5 patients with MEITL in Sichuan Jinyu Medical Laboratory Center Co., Ltd from March 2019 to February 2021 were retrospectively analyzed, and literatures were reviewed. All cases were tested by using histopathology, immunohistochemistry, in situ hybridization of Epstein-Barr virus (EBV) and T-cell clonability assessment, and 1 case had second-generation sequencing (NGS) test. Clinical follow-up was performed in 2 patients.Results:All 5 MEITL cases were middle-aged and old men. The histopathology showed that intestinal wall was diffuse with tumor cells infiltrating, and the cells were obviously epitheliophilic. All the tumor cells CD3, CD8, CD56, GrB were positively expressed, and expressions of other T-cell markers were different, among which 1 case had CD30 positive and 1 case had CD20 positive. All 5 cases were negative for EBV by in situ hybridization. Monoclonal rearrangement of T-cell receptor gene was detected in all 5 cases. Mutations of BCOR, JAK3, STAT5B and ATM were detected in 1 case by using NGS. Among 2 cases followed-up, 1 patient relapsed 7 months after he had the initial onset and underwent the first operation, and then he had another operation. This patient finally died of extensive metastasis in the lung, liver and abdominal cavity as well as ascites 13 months later; another patient died 1 month after emergency surgery for perforation.Conclusions:MEITL is a rare primary T-cell lymphoma of the digestive tract. The oncogenic event in the pathogenesis of MEITL mainly involves mutations in the tumor suppressor gene SETD2 and mutations in one or more genes of the JAK/STAT pathway. Currently, there is no standard treatment for MEITL. Most treatment options include surgical resection and anthracycline-based chemotherapy.

9.
Chinese Journal of Hematology ; (12): 210-215, 2020.
Artículo en Chino | WPRIM | ID: wpr-1012171

RESUMEN

Objective: To investigate the prognostic value of clonal gene mutations detected by second-generation sequencing in patients with positive RUNX1-RUNX1T1 acute myeloid leukemia (AML) who received high-dose chemotherapy or autologous transplantation (intensive consolidation therapy) in the first complete remission (CR(1)) state. Methods: 79 AML patients with positive RUNX1-RUNX1T1 who received intensive consolidation therapy in CR(1) state from July 2011 to August 2017 were analyzed retrospectively. Kaplan-Meier curve and Cox regression model were used to figure out the effect of leukocyte counts at onset and gene mutations for prognosis. Results: C-KIT, FLT3, CEBPA and DNMT3A gene mutations were found in 25 (31.6%) , 6 (7.6%) , 7 (8.9%) and 1 (1.3%) patient among the population. Mutations in C-KIT exon17 and C-KIT exon8 were detected in 19 (24.1%) and 5 (6.3%) cases, respectively, and mutations of FLT3-ITD were confirmed in 5 (6.3%) cases. The higher leukocyte counts presented at onset of leukemia, the shorter overall survival (OS) was seen in these patients (P=0.03) . Patients with C-KIT exon17 mutation had significantly shorter OS (P=0.01) and disease free survival (DFS) (P=0.006) compared with those without gene mutations, and patients with FLT3-ITD gene mutation got the inferior OS (P=0.048) and DFS (P=0.071) . Conclusion: In AML patients with positive RUNX1-RUNX1T1 receiving intensive consolidation therapy, the white blood cell counts at onset of leukemia, C-KIT mutations in exon 17, and FLT3-ITD gene mutations suggest poor prognosis, which would contribute to elaborate risk stratification, personalized treatment and predict prognosis for these patients.


Asunto(s)
Humanos , Quimioterapia de Consolidación , Subunidad alfa 2 del Factor de Unión al Sitio Principal/genética , Leucemia Mieloide Aguda/genética , Mutación , Pronóstico , Proteína 1 Compañera de Translocación de RUNX1/genética , Estudios Retrospectivos , Tirosina Quinasa 3 Similar a fms
10.
Chinese Journal of Digestion ; (12): 36-39, 2020.
Artículo en Chino | WPRIM | ID: wpr-798919

RESUMEN

Objective@#To explore the clinical applications of second generation colon capsule endoscopy (CCE-2).@*Methods@#From July 2017 to December 2018, at the First Affiliated Hospital, College of Medicine, Zhejiang University, 40 outpatients and hospitalized patients who underwent CCE-2 examination were enrolled. The examination results were analyzed by an expert gastroenterologist with rich experience in small intestinal and colon capsule endoscopy. The stomach, small bowel and colon transit time, the score of colon cleansing quality, the completion rate of colon capsule examination, lesion detection and adverse effects were observed. Chi-square test and Student′t test were used for statistical analysis.@*Results@#The whole gastrointestinal tract examination was completed during the capsule running time in 65.0% (26/40) of the patients. The average stomach transit time was (0.92±0.74) h, the small bowel transit time was (3.93±1.51) h and the colon transit time was (4.89±0.61) h. The capsule running time of patients who completed the whole gastrointestinal tract examination was shorter than that of patients who did not complete the whole gastrointestinal tract examination ((9.44 ± 3.53) h vs. (15.47±2.09) h), and the difference was statistically significant (t=6.79, P<0.01). The qualified rate of colon preparation was 67.5% (27/40). There were no statistically significant differences in colon transit time or capsule excretion time between patients with qualified colon preparation and poor colon preparation ((4.43±3.33) h vs. (5.96 ± 2.44) h; and (9.06 ± 3.91) h vs. (10.29±2.47) h; t=1.17 and 0.81, both P>0.05). A total of 33 (82.5%) patients had gastrointestinal lesions detected by colon capsule, including three cases of esophageal lesions (inflammation and mass), 21 cases of gastric lesions (chronic gastritis, mucosal protrusion, polyp and ulcer), nine cases of small bowel lesions (polyp, ulcer and vascular malformation) and 19 cases of colonic lesions (diverticulum, polyp, rectitis, mucosal erosion, ulcer and vascular malformation, internal hemorrhoids). Among them, there were 11 patients with two or more lesions. No adverse events occurred during the examination and all the capsules were excreted within 48 hours.@*Conclusion@#CCE-2 with high safety and good tolerance can be used for whole gastrointestinal tract examination.

11.
Journal of Korean Neuropsychiatric Association ; : 2-11, 2019.
Artículo en Coreano | WPRIM | ID: wpr-765192

RESUMEN

After the discovery of antipsychotic drugs, the nature of clinical practice entered a period of inexorable transition. The advances of psychopharmacotherapy have interacted in complex ways with clinical practice, and the economics and policy of mental health care systems. The study of the mechanisms of action of these drugs has guided the development of hopefully improved treatment, and stimulated biological research on the pathophysiology of severe mental disorders. Despite the considerable effort to modify and change existing antipsychotic drugs, progress has been modest. This review describes the history of antipsychotic drugs and their impact on clinical practice and the study of psychiatric disorders, and offer prospects for future developments. Although finding new knowledge and methodologies to bring innovative discovery is imperative, as of now, it is important to provide comprehensive care, including the optimal use of existing antipsychotic drugs.


Asunto(s)
Antipsicóticos , Trastornos Mentales , Salud Mental
12.
Psychiatry Investigation ; : 249-253, 2019.
Artículo en Inglés | WPRIM | ID: wpr-760911

RESUMEN

“Comfort women” are survivors of sexual slavery by the Imperial Japanese Army during World War II, who endured extensive trauma including massive rape and physical torture. While previous studies have been focused on the trauma of the survivors themselves, the effects of the trauma on the offspring has never been evaluated before. In this article, we reviewed the first study on the offspring of former “comfort women” and aimed to detect the evidence of transgenerational transmission of trauma. In-depth psychiatric interviews and the Structured Clinical Interview for DSM-5 Axis I Disorders were conducted with six offspring of former “comfort women.” Among the six participants, five suffered from at least one psychiatric disorder including major depressive disorder, panic disorder, posttraumatic stress disorder, adjustment disorder, insomnia disorder, somatic symptom disorder, and alcohol use disorder. Participants showed similar shame and hyperarousal symptoms as their mothers regarding stimuli related to the “comfort woman” issue. Increased irritability, problems with aggression control, negative worldview, and low self-esteem were evident in the children of mothers with posttraumatic stress disorder. Finding evidence of transgenerational transmission of trauma in offspring of “comfort women” is important. Future studies should include more samples and adopt a more objective method.


Asunto(s)
Niño , Humanos , Trastornos de Adaptación , Agresión , Pueblo Asiatico , Trastorno Depresivo Mayor , Métodos , Personal Militar , Madres , Trastorno de Pánico , Violación , Vergüenza , Esclavización , Trastornos del Inicio y del Mantenimiento del Sueño , Trastornos por Estrés Postraumático , Sobrevivientes , Tortura , Segunda Guerra Mundial
13.
Journal of Forensic Medicine ; (6): 560-566, 2019.
Artículo en Inglés | WPRIM | ID: wpr-985046

RESUMEN

Objective To evaluate the effect of 56 ancestry informative single nucleotide polymorphism (aiSNP) genetic markers in the ForenSeqTM DNA Signature Prep Kit on ancestry inference. Methods A total of 85 samples from five populations including Hebei Han population, Inner Mongolia autonomous region Mongolian population, Tibet autonomous region Tibetan population, Xinjiang Uygur autonomous region Uygur population and Nigerian population were collected. The library was constructed with the ForenSeqTM DNA Signature Prep Kit and sequencing was performed based on the MiSeq FGx Forensic Genomics System. Using universal analysis software (UAS) of ForenSeqTM, principal component analysis (PCA), Structure and likelihood ratio method was used on the genotyping data of 56 aiSNP markers, respectively, and the genetic relationships between populations and inference of the origin of ancestors were analyzed. Results Among the five populations tested, the four ethnic populations in China (Hebei Han population, Inner Mongolia autonomous region Mongolian population, Tibet autonomous region Tibetan population and Xinjiang Uygur autonomous region Uygur population) could be significantly distinguished from Nigerian population. Xinjiang Uygur autonomous region Uygur individuals were shown as having mixed origins of ancestors and could be distinguished from the other three Chinese populations. However, the other three populations in China (Hebei Han population, Inner Mongolia autonomous region Mongolian population and Tibet autonomous region Tibetan population) could not be effectively distinguished by the system. Conclusion The 56 aiSNP markers in the ForenSeqTM DNA Signature Prep Kit can make accurate ancestry inference from the intercontinental level, but it is not yet able to distinguish between Chinese subpopulations.


Asunto(s)
Humanos , Pueblo Asiatico/genética , China , ADN , Dermatoglifia del ADN , Etnicidad/genética , Genética Forense/métodos , Genética de Población , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Polimorfismo de Nucleótido Simple
14.
Journal of Forensic Medicine ; (6): 84-88, 2019.
Artículo en Inglés | WPRIM | ID: wpr-984986

RESUMEN

Mixed stains is the common biological sample in sexual crime cases. Its analysis and DNA profiles interpretation are one of the difficulties in forensic examination. The current genetic marking of mixed stain detection mainly rely on capillary electrophoresis (CE) separation technology, and the analysis methods of the results are mainly inclusion rate and likelihood methods. Because CE has limited resolution and is not able to exploit the efficacy of each genetic marker, its ability to split mixed stain is limited. In recent years, the emerging massively parallel sequencing (MPS) technique not only can obtain the base sequence information of genetic markers, but also is capable of detecting multiple genetic markers simultaneously, and thus derives new analytical methods, bringing new opportunities for forensic detection and analysis of mixed stain. This paper intends to review the application prospects of conventional mixed stain analyses and MPS technique, therefore to provide references for later research and practice.


Asunto(s)
Colorantes , Dermatoglifia del ADN , Secuenciación de Nucleótidos de Alto Rendimiento , Repeticiones de Microsatélite , Análisis de Secuencia de ADN
15.
Chinese Journal of Practical Pediatrics ; (12): 205-208, 2019.
Artículo en Chino | WPRIM | ID: wpr-817843

RESUMEN

The incidence of allergic rhinitis in children increases year by year,and H_1 antihistamines play a role in the control of allergic diseases by blocking the binding of histamine and H_1 receptor. The second-generation H_1 antihistamines have more stable binding,better specificity,lower central inhibitory effect and longer action time,and can effectively improve the symptoms of the nose and eyes,which is the firstline drug for the treatment of allergic rhinitis in children. At present,there aren't objective testing methods to evaluate the effectiveness and safety of antihistamines. Therefore,the dosage for children should be adjusted according to body weight,appropriate dosage forms should be selected,age limit should be paid attention to,dosage varieties should be individualized as far as possible,and reasonable course of treatment should be applied.

16.
Artículo | IMSEAR | ID: sea-185306

RESUMEN

There are few studies with up dosing of different 2 generation antihistamines. This study evaluates efficacy and safety of high doses of Levocetirizine and Fexofenadine in chronic urticaria. This study includes 24 patients with chronic urticaria. Initially Fexofenadine 180 mg or Levocetirizine 5 mg was started. Doses of study drugs were doubled at the end of 1 week and tripled at the end of 2 weeks in non-responders and th continued up to 4 week. Patients completed 2 week treatment with highest doses were included in the analysis. All patients were evaluated for symptoms, VAS for sedation and critical flicker fusion threshold (CFFT) for coordination before and after study. Reduction in mean total symptoms score and CFFT were highly significant in Fexofenadine group. Conclusion: Fexofenadine is superior to Levocetrizine in high doses in reducing mean symptoms score and sedation and no impairment in coordination in patients with chronic urticaria.

17.
China Pharmacy ; (12): 1281-1287, 2018.
Artículo en Chino | WPRIM | ID: wpr-704784

RESUMEN

OBJECTIVE:To evaluate the efficacy and safety of Yupingfeng powder combined with second- generation antihistamines versus second-generation antihistamines for chronic urticaria(CU)systematically,and to provide evidence-based reference for clinical treatment for CU. METHODS:Retrieved from PubMed,Embase,The Cochrane Library,CJFD,VIP and CBM,RCT about therapeutic efficacy(total response rate,cure rate,recurrence rate)and safety(the incidence of ADR)of Yupingfeng combined with second-generation antihistamines(trial group)versus second-generation antihistamines(control group) in the treatment of CU were collected. The data extraction was performed for included clinical studies,and Meta-analysis was performed by using Rev Man 5.3 statistical software after quality evaluation with Cochrane Handbook 5.1.0 evaluation criteria. RESULTS:A total of 34 RCTs were enrolled,involved 3 405 patients in total. Results of Meta-analysis showed that the total response rate [OR=4.02,95%CI(3.03,5.34),P<0.001],cure rate [OR=2.25,95%CI(1.95,2.60),P<0.001] and recurrence rate [OR=0.33,95%CI(0.26,0.42),P<0.001] of trial group were significantly better than those of control group,with statistical significance. There was no statistical significance in the incidence of ADR between 2 groups [OR=0.98,95%CI(0.71,1.37),P=0.92]. CONCLUSIONS:For CU therapy,Yupingfeng powder combined with second-generation antihistamines is better than second-generation antihistamines alone in improving total response rate and cure rate,reducing recurrence rate,both have similar safety.

18.
Malaysian Journal of Medical Sciences ; : 40-55, 2018.
Artículo en Inglés | WPRIM | ID: wpr-732566

RESUMEN

Objective: We carried out a bibliometric study on the scientific papers related to second generation anti-psychotic drugs (SGAs) in Malaysia. Methods: With the SCOPUS database, we selected those documents made in Malaysia whose title included descriptors related to SGAs. We applied bibliometric indicators of production and dispersion, as Price’s law and Bradford’s law, respectively. We also calculated the participation index of the different countries. The bibliometric data were also been correlated with some social and health data from Malaysia (total per capita expenditure on health and gross domestic expenditure on R&D). Results: We found 105 original documents published between 2004 and 2016. Our results fulfilled Price’s law, with scientific production on SGAs showing exponential growth (r = 0.401, vs. r = 0.260 after linear adjustment). The drugs most studied are olanzapine (9 documents), clozapine (7), and risperidone (7). Division into Bradford zones yields a nucleus occupied by the Medical Journal of Malaysia, Singapore Medical Journal, Australian and New Zealand Journal of Psychiatry, and Pharmacogenomics. Totally, 63 different journals were used, but only one in the top four journals had an impact factor being greater than 3. Conclusion: The publications on SGAs in Malaysia have undergone exponential growth, without evidence a saturation point.

19.
Clinical Psychopharmacology and Neuroscience ; : 361-375, 2018.
Artículo en Inglés | WPRIM | ID: wpr-718112

RESUMEN

We aimed to compare the efficacy and safety of long-acting injectable (LAI) and oral second-generation antipsychotics (SGAs) in treating schizophrenia by performing a systematic review and meta-analysis. MEDLINE, EMBASE, PsycINFO, CINAHL, and the Cochrane Library, as well as five Korean databases, were systemically searched to identify studies published from 2000 to 16 April 2015, which compared the efficacy and safety of LAI and oral SGAs. Using data from randomized controlled trials (RCTs), meta-analyses were conducted. In addition, the GRADE (the Grading of Recommendations, Assessment, Development and Evaluation) approach was applied to explicitly assess the quality of the evidence. A total of 30 studies including 17 RCTs and 13 observational studies were selected. The group treated with LAI SGAs was characterized by significantly lower relapse rates, longer times to relapse and fewer hospital days, but also by a higher occurrence of extrapyramidal syndrome and prolactin-related symptoms than that in the group treated with oral SGAs. Our findings demonstrate that there is moderate to high level of evidence suggesting that in the treatment of schizophrenia, LAI SGAs have higher efficacy and are associated with higher rates of extrapyramidal syndrome and prolactin-related symptoms. Additionally, the use of LAI SGAs should be combined with appropriate measures to reduce dopamine D2 antagonism-related symptoms.


Asunto(s)
Antipsicóticos , Dopamina , Recurrencia , Esquizofrenia
20.
Psychiatry Investigation ; : 628-637, 2018.
Artículo en Inglés | WPRIM | ID: wpr-714984

RESUMEN

OBJECTIVE: Second-generation antipsychotics (SGAs) increase the risk of metabolic syndrome (MetS). Despite the risk of MetS, SGAs may have to be continued with change in some patients. The aim of this study was to trace the evolution of MetS in these patients. METHODS: Patients with schizophrenia who had been maintained on a fixed SGA regimen for more than a year were followed-up without changing the regimen. Metabolic indicators were evaluated at baseline and at follow-up. Prevalence, incidence and spontaneous normalization rate of MetS were estimated. Risk factors that might have influenced the evolution were scrutinized. RESULTS: A total of 151 subjects were included. During the mean observation period of 389.9±162.4 days, the prevalence of MetS was increased from 35.1 to 45.0%. The incidence rate was 29.6%, while the normalization rate was 26.4%, risk factors affecting incidence were age (OR=1.09, 95% CI: 1.03–1.17), baseline continuous values of metabolic syndrome risk scores (cMetS, OR=1.77, 95% CI:1.29–2.55) and baseline body weight (OR=1.06, 95% CI: 1.01–1.13). Normalization was influenced by age (OR=0.74, 95% CI: 0.57–0.89) and baseline body weight (OR=0.85, 95% CI: 0.72–0.95). CONCLUSION: The prevalence of MetS steadily increased with the continuous use of SGAs. However, individual difference was extensive and about a quarter of the patients were able to recover naturally without specific measurements.


Asunto(s)
Humanos , Antipsicóticos , Peso Corporal , Estudios de Seguimiento , Incidencia , Individualidad , Prevalencia , Factores de Riesgo , Esquizofrenia
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