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1.
Adv Exp Med Biol ; 1292: 37-63, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-30838542

RESUMEN

BACKGROUND: The sequence polymorphism of mitochondrial DNA (mtDNA) hypervariable segment 1 (HV1) and hypervariable segment 2 (HV2) is studied and applied to genetic diversity and human evolution assessment, forensic genetics, consanguinity determination, and mitochondrial disease diagnosis. METHODS: The study identified the variations of HV1 and HV2 of 517 unrelated Vietnamese individuals in Kinh, Muong, Cham, and Khmer ethnic. We performed sequencing of two hypervariable segments of mitochondrial DNA: HV1 and HV2. RESULTS: Fifty haplogroups were identified in which F1a haplogroup frequency was highest at 15.7%, followed by B5a (10.8%), M (8.9%), and M7b1 (7.7%). The most frequently encountered SNPs in this study were A263G (100%), A73G (99.6%), 315insC (96%), 309insC (56%), C16223T (41%), and T16189C (39%). The genetic diversity was calculated at 99.83%, and the probability of random match of two individuals sharing the same mtDNA haplotype was 0.37%. CONCLUSION: We have assessed the genetic polymorphism of mtDNA HV1 and HV2 of 517 Kinh, Muong, Cham, and Khmer ethnic samples. The result will help in better understanding of Vietnamese's mitochondrial genome diversity and aid in population as well as forensic science.


Asunto(s)
Pueblo Asiatico/genética , ADN Mitocondrial/genética , Etnicidad/genética , Polimorfismo Genético , Haplotipos , Humanos , Análisis de Secuencia de ADN , Vietnam
2.
Taiwan J Obstet Gynecol ; 58(5): 645-649, 2019 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-31542086

RESUMEN

OBJECTIVE: Duchenne Muscular Dystrophy is an X-linked recessive disorder characterized by progressive muscular degeneration, patients often develop cardiac failure in the later stage and death occurs before 20 years of age. For a disease with poor postnatal prognosis such as Duchenne Muscular Dystrophy (DMD), providing the carrier mother with the option of prenatal diagnosis in a subsequent pregnancy is accepted practice in many places where termination of pregnancy is allowed. Though methods of direct sequencing such as Sanger's sequencing has been widely used, Next-Generation Sequencing is been increasingly replacing most of its application. For the DMD gene, being the longest gene in the human genome, methods of direct sequencing is often unpractical and time-consuming, instead, STR analysis for linkage analysis would be a cost-effective option and have been used routinely for prenatal diagnosis of DMD. The diagnostic significance of the STRs is based on several criteria, the most important one being the heterozygosity of the locus, power of discrimination (PD) and power of exclusion (PE). MATERIAL AND METHODS: In this study, we investigated the feasibility of application and diagnostic value of 6 STR loci (DSTR49, DSTR50, DXS1036, DXS1067, DXS890, DXS9907) in the proximity of the DMD gene, 66 healthy individuals were recruited for STR analysis and 5 cases of prenatal diagnosis for carrier mother were performed. RESULT: Allele frequency, heterozygosity, polymorphic information content, the power of discrimination and exclusion and Hardy-Weinberg equilibrium were analyzed and calculated for the 6 STR loci. 5 of these loci (DSTR49, DSTR50, DXS1067, DXS890, DXS9907) were found practical and useful for preimplantation Genetic diagnosis (PGD) and prenatal diagnosis. All 5 cases of prenatal diagnosis using the method had informative STR results and correct diagnosis. CONCLUSION: We concluded that our protocol of STR analysis can be applied for prenatal diagnosis and pre-implantation genetic diagnosis of DMD with high confidence and accuracy, especially in clinical settings where diagnostic resources are more limited.


Asunto(s)
Sitios Genéticos/genética , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Repeticiones de Microsatélite/genética , Distrofia Muscular de Duchenne/diagnóstico , Diagnóstico Prenatal/métodos , Adulto , Estudios de Factibilidad , Femenino , Frecuencia de los Genes , Ligamiento Genético/genética , Marcadores Genéticos , Humanos , Reacción en Cadena de la Polimerasa Multiplex/métodos , Distrofia Muscular de Duchenne/embriología , Distrofia Muscular de Duchenne/genética , Embarazo , Diagnóstico Preimplantación/métodos , Sensibilidad y Especificidad
3.
Am J Med Genet A ; 179(8): 1420-1422, 2019 08.
Artículo en Inglés | MEDLINE | ID: mdl-31077548

RESUMEN

Acromesomelic dysplasias are rare skeletal disorders leading to severe short stature and abnormal skeletal morphology. Acromesomelic dysplasia Maroteaux-type is caused by homozygous or compound heterozygous pathogenic variants in NPR2 that encodes for natriuretic peptide receptor B. Here, we reported the first AMDM case in South East Asia and identified a novel pathogenic variant in NPR2 (c. 152T>C, p. (Leu51Pro)). Further analyses reveal the parents and two other family members were heterozygous for the variant. The clinical report highlights the importance of molecular genetic testing in diagnosing rare hereditable disease affecting skeletal abnormalities.


Asunto(s)
Enfermedades del Desarrollo Óseo/genética , Huesos/metabolismo , Mutación , Receptores del Factor Natriurético Atrial/genética , Adulto , Enfermedades del Desarrollo Óseo/diagnóstico por imagen , Enfermedades del Desarrollo Óseo/patología , Huesos/diagnóstico por imagen , Huesos/patología , Niño , Preescolar , Análisis Mutacional de ADN , Femenino , Expresión Génica , Pruebas Genéticas , Heterocigoto , Homocigoto , Humanos , Masculino , Linaje , Fenotipo , Radiografía , Vietnam
5.
Taiwan J Obstet Gynecol ; 57(6): 878-880, 2018 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-30545545

RESUMEN

OBJECTIVE: Duchenne muscular dystrophy (DMD) is a severe disorder caused by mutation in the X-linked dystrophin gene, therefor carrier testing is required for all female family members. However, there are cases mutation analysis cannot detect any mutation due to a phenomenon called mosaicism. The case report describes a case of mosaicism in a DMD carrier and discusses the approach in diagnosis and counseling of familial disorder. CASE REPORT: The proband was diagnosed with DMD at age six. Sequencing of Dystrophin gene identified a 2-nucleotide deletion c.2032_2033delCA, p.Q678DfsX41. Family investigation suggested that the mother was an obligate carrier of Dystrophin mutation. Sequencing of DNA sample from the mother's peripheral blood did not reveal any mutation, there for we take sample from hair follicle for analysis. The result indicated that the mother was a carrier but was masked from initial analysis by mosaicsism. CONCLUSION: We suggested that more care need to be taken in identifying cases when no mutation was detected in probable or obligate carrier and prenatal diagnosis should remain an option.


Asunto(s)
Heterocigoto , Mosaicismo , Distrofia Muscular de Duchenne/genética , Niño , Análisis Mutacional de ADN , Femenino , Humanos , Distrofia Muscular de Duchenne/diagnóstico , Linaje , Embarazo , Diagnóstico Prenatal
6.
Artículo en Inglés | WPRIM (Pacífico Occidental) | ID: wpr-51901

RESUMEN

OBJECTIVES: The average alcohol consumption per capita among Vietnamese adults has consistently increased. Although alcohol-related disorders have been extensively studied, there is a paucity of research shedding light on this issue among Internet users. The study aimed to examine the severity of alcohol-related disorders and other associated factors that might predispose individuals towards alcohol usage in a sample of youths recruited online. METHODS: An online cross-sectional study was conducted with 1,080 Vietnamese youths. A standardized questionnaire was used. Respondent-driven sampling was applied to recruit participants. Multivariate logistic and Tobit regressions were utilized to identify the associated factors. RESULTS: About 59.5% of the males and 12.7% of the total youths declared that they were actively using alcohol. From the total sample, a cumulative total of 32.3% of the participants were drinking alcohol, with 21.8% and 25.0% of the participants being classified as drinking hazardously and binge drinkers, respectively. The majority of the participants (60.7%) were in the pre-contemplative stage. CONCLUSIONS: A high prevalence of hazardous drinking was recognized among online Vietnamese youths. In addition, we found relationships between alcohol use disorder and other addictive disorders, such as tobacco smoking and water-pipe usage. Our results highlighted that the majority of the individuals are not receptive to the idea of changing their alcohol habits, and this would imply that there ought to be more government effort towards the implementation of effective alcohol control policies.


Asunto(s)
Adolescente , Adulto , Humanos , Masculino , Consumo de Bebidas Alcohólicas , Trastornos Relacionados con Alcohol , Pueblo Asiatico , Estudios Transversales , Ingestión de Líquidos , Internet , Prevalencia , Factores de Riesgo , Fumar , Encuestas y Cuestionarios , Vietnam
7.
Lancet ; 375(9713): 490-9, 2010 Feb 06.
Artículo en Inglés | MEDLINE | ID: mdl-20071021

RESUMEN

BACKGROUND: There has been concern about rising rates of caesarean section worldwide. This Article reports the third phase of the WHO global survey, which aimed to estimate the rate of different methods of delivery and to examine the relation between method of delivery and maternal and perinatal outcomes in selected facilities in Africa and Latin America in 2004-05, and in Asia in 2007-08. METHODS: Nine countries participated in the Asia global survey: Cambodia, China, India, Japan, Nepal, Philippines, Sri Lanka, Thailand, and Vietnam. In each country, the capital city and two other regions or provinces were randomly selected. We studied all women admitted for delivery during 3 months in institutions with 6000 or fewer expected deliveries per year and during 2 months in those with more than 6000 deliveries. We gathered data for institutions to obtain a detailed description of the health facility and its resources for obstetric care. We obtained data from women's medical records to summarise obstetric and perinatal events. FINDINGS: We obtained data for 109 101 of 112 152 deliveries reported in 122 recruited facilities (97% coverage), and analysed 107 950 deliveries. The overall rate of caesarean section was 27.3% (n=29 428) and of operative vaginal delivery was 3.2% (n=3465). Risk of maternal mortality and morbidity index (at least one of: maternal mortality, admission to intensive care unit [ICU], blood transfusion, hysterectomy, or internal iliac artery ligation) was increased for operative vaginal delivery (adjusted odds ratio 2.1, 95% CI 1.7-2.6) and all types of caesarean section (antepartum without indication 2.7, 1.4-5.5; antepartum with indication 10.6, 9.3-12.0; intrapartum without indication 14.2, 9.8-20.7; intrapartum with indication 14.5, 13.2-16.0). For breech presentation, caesarean section, either antepartum (0.2, 0.1-0.3) or intrapartum (0.3, 0.2-0.4), was associated with improved perinatal outcomes, but also with increased risk of stay in neonatal ICU (2.0, 1.1-3.6; and 2.1, 1.2-3.7, respectively). INTERPRETATION: To improve maternal and perinatal outcomes, caesarean section should be done only when there is a medical indication. FUNDING: US Agency for International Development (USAID); UNDP/UNFPA/WHO/World Bank Special Programme of Research, Development and Research Training in Human Reproduction (HRP), WHO, Switzerland; Ministry of Health, Labour and Welfare of Japan; Ministry of Public Health, China; and Indian Council of Medical Research.


Asunto(s)
Cesárea/estadística & datos numéricos , Parto Obstétrico/métodos , Resultado del Embarazo/epidemiología , Adolescente , Adulto , África/epidemiología , Asia/epidemiología , Cesárea/efectos adversos , Análisis por Conglomerados , Parto Obstétrico/estadística & datos numéricos , Femenino , Encuestas Epidemiológicas , Humanos , América Latina/epidemiología , Mortalidad Materna , Mortalidad Perinatal , Embarazo , Factores de Riesgo , Organización Mundial de la Salud , Adulto Joven
8.
Hum Reprod ; 24(1): 106-12, 2009 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-18794161

RESUMEN

BACKGROUND: To identify an effective misoprostol-only regimen for the termination of second trimester pregnancy, we compared sublingual and vaginal administration of multiple doses of misoprostol in a randomized, placebo-controlled equivalence trial. METHODS: Six hundred and eighty-one healthy pregnant women requesting medical abortion at 13-20 weeks' gestation were randomly assigned within 11 gynaecological centres in seven countries into two treatment groups: 400 microg of misoprostol administered either sublingually or vaginally every 3 h up to five doses, followed by sublingual administration of 400 microg misoprostol every 3 h up to five doses if abortion had not occurred at 24 h after the start of treatment. We chose 10% as the margin of equivalence. The primary end-point was the efficacy of the treatments to terminate pregnancy in 24 h. Successful abortion within 48 h was also considered as an outcome along with the induction-to-abortion-interval, side effects and women's perceptions on these treatments. RESULTS: At 24 h, the success (complete or incomplete abortion) rate was 85.9% in the vaginal administration group and 79.8% in the sublingual group (difference: 6.1%, 95% CI: 0.5 to 11.8). Thus, equivalence could not be concluded overall; the difference, however, was driven by the nulliparous women, among whom vaginal administration was clearly superior to sublingual administration (87.3% versus 68.5%), whereas no significant difference was observed between vaginal and sublingual treatments among parous women (84.7% versus 88.5%). The rates of side effects were similar in both groups except for fever, which was more common in the vaginal group. About 70% of women in both groups preferred sublingual administration. CONCLUSIONS: Equivalence between vaginal and sublingual administration could not be demonstrated overall. Vaginal administration showed a higher effectiveness than sublingual administration in terminating second trimester pregnancies, but this result was mainly driven by nulliparous women. Fever was more prevalent with vaginal administration. Registered with International Standard Randomized Controlled Trial number ISRCTN72965671.


Asunto(s)
Aborto Inducido/métodos , Misoprostol/administración & dosificación , Segundo Trimestre del Embarazo , Administración Intravaginal , Administración Sublingual , Femenino , Edad Gestacional , Humanos , Misoprostol/efectos adversos , Embarazo , Resultado del Tratamiento
9.
Artículo en Vietnamita | WPRIM (Pacífico Occidental) | ID: wpr-4689

RESUMEN

A study on 53 patients, average age 27.2 ± 5.6, underwent cesarean section using Hinh-Minh’s incision between 6/2000 and 12/2001 in National Hospital for Obstetrics and Gynecology showed that Hinh-Minh technique overcame the unaesthetic of Joel Cohen incision and time consuming of Pfannenstiel incision, with time of abdominal open is very quick, average time is 1 minute 45 second, average time of child delivery is 2 minutes 39 seconds and time of abdominal closure is 4 minutes 53 second. Total operation time using this technique is 21 minutes. In this study, besides 3 cases had fever some days after operation, there was no significant complication


Asunto(s)
Cesárea , Cirugía General
10.
Artículo en Vietnamita | WPRIM (Pacífico Occidental) | ID: wpr-4670

RESUMEN

Retrospective study on 247 cases of Caesarean section among 3531 deliveries at the Obstetric Department, Bach Mai hospital from January to October 1992 showed that the ratio of Caesarean section is 7% in total deliveries; the rate of women who have the first child born by Caesarean section is 55.5%. The maternal death rate is 0%, but the rate of postoperative complications is 1.6%, including severe complications such as total peritonitis, postoperative bleeding, compress omit, septicemia, and maternal death


Asunto(s)
Cesárea , Estudios Retrospectivos
11.
Artículo en Vietnamita | WPRIM (Pacífico Occidental) | ID: wpr-4602

RESUMEN

A study was conducted in 251 cases with cesarean section at Institute of Protection of Mother and Newborn during October 1995. 79.7% of cases with cesarean section non-amniorrhexis or amniorrhexis less than 6 hours, only 1.6% cases amniorrhexis over 24 hours. 20% of cases who underwent cesarean section using lower segment transverse incision. All cases were treated by intravenous antibiotics in 7 days, twice a day. The infection’s rate was 7.6%. The most common infections were postoperative fever, and the wound’s infection was the least common. There was no severe infections such as peritonitis, septicemia


Asunto(s)
Cesárea , Infecciones
12.
Artículo en Vietnamita | WPRIM (Pacífico Occidental) | ID: wpr-4590

RESUMEN

In this study, operative details and the postoperative courses of 42 patients who underwent cesarean section during Jan 2003-Dec 2004 at the Central Mothers’ Hospital were reported. The surgery used lower segment transverse incision technique with nonclosure of the visceral and parietal peritoneum. The Hinh Minh incision is performed. The uterine incision was closed in one layer with continuous, non-locking sutures, using a polyglactin no. 1 (Vicryl). Visceral and parietal peritoneum were left opened. The muscles were not approximated. The fascia was closed with a continuous non-locking suture of no. 1 Vicryl. The skin was closed with a continuous non-locking intradermic suture of no 2/0 nylon. Prophylactic antibiotic intravenous was used just after clamping the cord. Mean duration of intervention was 19.8  2.8 minutes. Nonclosure of the visceral and parietal peritoneum reduced operation time, and bowel function recovered more quickly


Asunto(s)
Cesárea , Peritoneo , Región Branquial
13.
Artículo en Vietnamita | WPRIM (Pacífico Occidental) | ID: wpr-4574

RESUMEN

Studying 8055 laparoscopy cases in National Hospital for Gynecology and Obstetrics from December 1995 to December 2004, the researcher found: the rate of laparoscopy among gynecologic surgery is increasing. The most common indication of laparoscopy is infertility (44.8%), then ectopic pregnancy (38.4%). The laparoscopy’s indications have been diversifying as fibromectomy, torsion ovarian cyst, and ovarian cyst during pregnancy. The laparoscopy’s techniques have been complicating: laparoscopy assisted vaginal hysterectomy, anastomosis of Fallopian tube. There were no severe complications during the technique. The results indicated that laparoscopy surgery had a high safety and aestheticism, helped patients to rapidly recover after surgery


Asunto(s)
Laparoscopía , Epidemiología
14.
Artículo en Vietnamita | WPRIM (Pacífico Occidental) | ID: wpr-4535

RESUMEN

We reported here an abnormal high urinary HCG level (30000 frog unit/l) at 11 weeks and 5 days of pregnancy in a normal pregnant woman. Clinical signs of this patient were vomit and severe morning sickness. These signs appeared where the HCG level were still low and last until HCG level were reduced by internal therapy


Asunto(s)
Embarazo , Gonadotropina Coriónica
15.
Artículo en Vietnamita | WPRIM (Pacífico Occidental) | ID: wpr-4485

RESUMEN

Reporting one case of abnormal high urine hCG level in the pregnancy. The abnormal high level was still in allowed limits, even higher than normal level. The maximum hCG level was observed at 11 weeks and 5 days of gestational age following the first days of the last menstrual periods. The symptoms such as nausea, vomiting would be severe with very low hCG, last until hCG achieved maximum. This patient was successfully managed with aminazin


Asunto(s)
Embarazo , Gonadotropina Coriónica , Orina
16.
Artículo en Vietnamita | WPRIM (Pacífico Occidental) | ID: wpr-4393

RESUMEN

Randomized study of 251 patients experienced cesarean section in Institute of Protection of Mother and Newborn in October 1995. Result: 79.9% cases of cesarean section had unruptured amnia or had ruptured amnia less than 6 hours, only 1.6% of cases had ruptured amnia over 24hours. 35 cases of cesarean had old cesarean scar (13.9%). Among 151 cases of cesarean, 19 cases (7.6%) were infection. The most common infection was postoperative fever and the least common was abdominal infection. 95% of patients were treated by 2 types of antibiotic combination after operative


Asunto(s)
Cesárea , Infecciones
17.
Artículo en Vietnamita | WPRIM (Pacífico Occidental) | ID: wpr-4329

RESUMEN

Study on 88 cases of cesarean section at Obstetric Department, Bach Mai Hospital between January and October, 1992. There was no complication in procedures of single-layer uterine suture using catgut thread made in Vietnam. This procedure has more advantages than 2-layer uterine suture, including such shorten operation time, better preservation of the lower uterine


Asunto(s)
Cesárea , Suturas
18.
Artículo en Vietnamita | WPRIM (Pacífico Occidental) | ID: wpr-4262

RESUMEN

Hinh-Minh’s incision is a modified technique based on Pfannestiel’s incision (1900) and Cohen’s incision (1977), and could be applied in obstetric and gynecological surgeries (including Cesarean section). It has the advantages of two old techniques for gynecological operations. Hinh-Minh’s incision had taken full advantages and limited shortcomings of both techniques of Pfannenstiel’s incision and Joel Cohen’s incision. It secured aesthetics as Pfannestiel technique but reduced operation time and limited harmfully blood-vessels and nerves as well as Joel Cohen technique. At the same time, this technique was applied firstly in the situation of Vietnam on 49 patients underwent gynecological operations from June 2000 to December 2001. Operative time and recovery time were reduced, the rate of fever, wound infection and incision dehiscence were low.


Asunto(s)
Procedimientos Quirúrgicos Ginecológicos , Cirugía General
19.
Artículo en Vietnamita | WPRIM (Pacífico Occidental) | ID: wpr-4210

RESUMEN

The study included 71 pregnant women underwent cesarean section in the National Hospital of Gynecology and Obstetrics between January and May 2004. Results: average duration of a cesarean section is 31 minutes and 1 second, the mean time of transversal laparotomy is 28 minutes and 15 seconds. In cases of transversall incision, the duration is 37 minutes and 9 seconds. The mean time required for newborn extraction is 5 minutes and 10 seconds. In cases of transversal incision, this duration is 4 minutes and 36 seconds. If the incision was made in white line below navel, the duration is 6 minutes and 29 seconds


Asunto(s)
Cesárea , Mujeres Embarazadas
20.
Artículo en Vietnamita | WPRIM (Pacífico Occidental) | ID: wpr-5125

RESUMEN

Study on 88 caesarean operation cases with technique of stitching uterus muscle using cagut thread made in Vietnam. The result showed that this technique has more some advange than technique of stitching two layers such as faster, respecting anatomy of uterus low tract. No occur any complication for process of closing scar in uterus include peritonitis, bleeding from stitch incision, breaking incision, incision infection


Asunto(s)
Cesárea , Suturas , Cirugía General
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