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1.
In. The University of the West Indies, Faculty of Medical Sciences. Faculty of Medical Sciences, Research Day. St. Augustine, Caribbean Medical Journal, March 21, 2019. .
Não convencional em Inglês | MedCarib | ID: biblio-1021986

RESUMO

Objective: Chest pain is a common Emergency Department (ED) presentation, but most patients will not have an Acute Coronary Syndrome (ACS). Decision tools have been developed to limit admissions to those at high risk of ACS, whilst allowing safe discharge of those at low risk. We aimed to evaluate the performance of three international decision tools (HEART, EDACS and VCPR) in the local setting. Design and Methodology: A prospective, observational cohort study was conducted to include ED patients presenting with low/intermediate risk chest pain. Participants were followed up at 6 weeks for Major Adverse Cardiac Events (MACE). Performance of clinical gestalt and the 3 scores were estimated. Results: 537 patients were enrolled, with 12 lost to followup, leaving 525 for analysis. Six patients developed MACE (1.14%). HEART had sensitivity, 16.67% (95% CI; 0.42% - 64.12%); specificity, 96.15% (95% CI; 94.11% - 97.63%); negative likelihood ratio (NLR), 0.87 (95% CI; 0.61 ­ 1.24). EDACS had sensitivity, 16.67% (95% CI; 0.42% - 64.12%); specificity, 95.38% (95% CI; 93.2% - 97.02%); NLR, 0.87 (95% CI; 0.61 ­ 1.25). VCPR had sensitivity 83.33% (95% CI; 35.88% - 99.58%); specificity, 67.05% (95% CI; 62.82% - 71.09%); NLR, 0.25 (95% CI; 0.04 ­ 1.49). Clinician gestalt had sensitivity 16.67% (95% CI; 0.42% - 64.12%); specificity, 97.5% (95% CI; 95.75% - 98.66%); NLR, 0.85 (95% CI; 0.6 ­ 1.22). Conclusion: In local patients with chest pain, the VCPR performed best for identifying patients for safe discharge, as well as with the lowest risk of MACE. The HEART, EDACS and clinical gestalt appear to be poorer decision tools.


Assuntos
Humanos , Masculino , Feminino , Doenças Cardiovasculares , Trinidad e Tobago , Serviço Hospitalar de Emergência , Síndrome Coronariana Aguda
2.
In. The University of the West Indies, Faculty of Medical Sciences. Faculty of Medical Sciences, Research Day. St. Augustine, Caribbean Medical Journal, March 21, 2019. .
Não convencional em Inglês | MedCarib | ID: biblio-1023853

RESUMO

Objective: Thrombolysis is the standard treatment for STEMI in most developing countries. However, adverse events attributable to thrombolysis occur, and must be considered in risk -benefit decisions. We aimed to estimate the local incidence of thrombolysis complications, whilst determining factors predisposing to adverse outcomes. Design and Methodology: A multicentre, prospective, observational cohort study was conducted; including consecutive adults with STEMI presenting to 3 Emergency Departments (EDs). Primary outcomes were complications and 30-day mortality. Results: 236 participants were enrolled (78.0% Indo- Trinidadian; 72.9% Male; 46.2% Hypertensive; 44.9% Diabetic; 57.9% Smokers). 27.5% of patients experienced complications; mainly a c u t e h e a r t f a i l u r e ( AHF) (8.5%) and cardiogenic shock (8.1%). In-hospital and 30-day mortality rates were 5.9 % and 9.2% respectively. Adverse outcomes of thrombolysis occurred in 9 (3.8%) patients (one intracerebral haemorrhage). No deaths were directly attributable to thrombolysis. No risk factor correlated with complications of thrombolysis, however a t r i o v e n t r i c u l a r ( AV) block (OR 9.73, CI 1.70 - 55.87, p = 0.011) and b l o o d u r e a n i t r o g e n ( BUN) (OR 1.09, CI 1.04 - 1.14, p < 0.001) were associated with increased in hospital mortality. Age ≥ 75 (OR 16.72, CI 1.45 - 192.44, p = 0.024), Systolic blood pressure (SBP) (OR 0.97, CI 0.96 - 0.99, p = 0.009) and BUN (adjusted OR 1.08, CI 1.03 - 1.13, p = 0.002) correlated with increased 30-day mortality. Conclusion: Thrombolysis for STEMI was associated with a low incidence of adverse events and similar mortality to developed nations. No factor was associated with adverse outcomes, although older age, high BUN, low SBP or AVB increased mortality risk. These findings can guide local physicians counselling patients/relatives regarding thrombolysis for STEMI.


Assuntos
Humanos , Masculino , Feminino , Terapia Trombolítica , Trinidad e Tobago , Região do Caribe/etnologia , Infarto do Miocárdio com Supradesnível do Segmento ST
3.
Med Sci Sports Exerc ; 50(5S): 351-352, May 2018.
Artigo em Inglês | MedCarib | ID: biblio-1007837

RESUMO

Background: Medical utilisation and contacts at amateur/international sporting events is an accepted phenomenon, as evidenced by mandatory medical coverage requirements for major events. There is little data however, on the volume and type of contacts expected outside of elite sport. This may lead to inefficient resource allocation and pose challenges to organisers in planning and delivery of medical services. In addition, data on contacts may assist in targeted preventative strategies. Objectives: We aimed to measure resource utilisation at the largest international aquatic sporting event in the hemisphere. We also aimed to measure epidemiological data including the type, location, sporting discipline and outcomes of medical contacts during the event. Methods: This was a prospective observational study conducted under the auspices of the organising committee of the XXX Confederation Centroamericana y del Caribe de Natacion (CCCAN) championships held in Trinidad & Tobago. Anonymised data was collected from event medical contact records, screening and voluntarily reported contacts by team medical staff (for individuals who did not visit event medical staff). We excluded contacts by spectators. Data was collected over a 12 day competition period. Descriptive analysis was undertaken using Microsoft Excel. Injury incidence rate (IR; number of injuries per 1000 athlete-days) and injury incidence proportion (IP; injuries per 100 athletes) were calculated. Results: There was a total of 5037 athlete/official days. There were 110 medical contacts for the event, with 80 occurring in athletes (72.7%). A significant number of non-sport related contacts was observed (60% of total) with a high number of complaints related to exhaustion and inadequate hydration. This was independent of country of origin. Acute gastroenteritis, ear and sinus infections were within expected frequencies. No EMS usage was necessary, and hospital transfers were for diagnostics in all cases. Open water swimming was associated with the most contacts, followed by water polo and swimming. Two-thirds of hospital transfers were for water polo associated injury. There were a total of 54 sport related contacts in 3956 athlete days (IR 13.65 injuries per 1000 athlete-days with an injury incidence proportion, IP; of 6.5 per 100 athletes). Conclusions: Planning for aquatic events must take into consideration non-sport as well as competition related complaints. This study gives important information on medical utilisation for future event planning.


Assuntos
Humanos , Masculino , Feminino , Medicina Esportiva , Trinidad e Tobago , Esportes Aquáticos , Região do Caribe
4.
Med Biol Eng Comput ; 56(6): 1115-1125, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29181625

RESUMO

Acute limp is a common presenting condition in the paediatric emergency department. There are a number of causes of acute limp that include traumatic injury, infection and malignancy. These causes in young children are not easily distinguished. In this pilot study, an infrared thermographic imaging technique to diagnose acute undifferentiated limp in young children was developed. Following required ethics approval, 30 children (mean age = 5.2 years, standard deviation = 3.3 years) were recruited. The exposed lower limbs of participants were imaged using a high-resolution thermal camera. Using predefined regions of interest (ROI), any skin surface temperature difference between the healthy and affected legs was statistically analysed, with the aim of identifying limp. In all examined ROIs, the median skin surface temperature for the affected limb was higher than that of the healthy limb. The small sample size recruited for each group, however, meant that the statistical tests of significant difference need to be interpreted in this context. Thermal imaging showed potential in helping with the diagnosis of acute limp in children. Repeating a similar study with a larger sample size will be beneficial to establish reproducibility of the results. Graphical abstract A young child with an acute undifferentiated limp undergoes thermal imaging and the follow on image analysis assists the limp diagnosis.


Assuntos
Interpretação de Imagem Assistida por Computador/métodos , Traumatismos da Perna/diagnóstico por imagem , Extremidade Inferior/diagnóstico por imagem , Termografia/métodos , Doença Aguda , Temperatura Corporal/fisiologia , Criança , Pré-Escolar , Feminino , Marcha/fisiologia , Humanos , Lactente , Traumatismos da Perna/fisiopatologia , Extremidade Inferior/fisiopatologia , Masculino
5.
In. Faculty of Medical Sciences. Faculty Research Day, Book of Abstracts. St. Augustine, The University of the West Indies, November 9, 2017. .
Não convencional em Inglês | MedCarib | ID: biblio-1007347

RESUMO

Background: ST elevation Myocardial Infarctions (STEMIs) are one of the most common treatable causes of death and morbidity in Trinidad & Tobago. Bodies such as the American Heart Association (AHA) have recognised that early identification and treatment using thrombolytics or Primary Coronary Intervention (PCI) of STEMIs is crucial to improving patient outcomes, and have made recommendations for ideal critical actions in the management of STEMIs. Data on the performance of Emergency Departments to deliver these actions is poor in many developing countries, but at the same time, are important to measure in order to drive improvement in patient care. Objectives & Methods: We aimed to determine the quality metrics and six (6) month mortality outcomes in STEMI patients who presented to the Emergency Department, Siparia District Health Facility. Medical records for all patients receiving thrombolytic therapy were obtained over the period January 2011 ­ December 2014. Data was extracted and reviewed and 6 month telephone follow-up via was performed for these patients. Descriptive analysis was undertaken using Microsoft Excel. Results: Seventy- seven (77) patients received thrombolysis but only sixty-one (61) had complete documentation. There were almost 4 times as many men than women (77.8% of males and 20.3% of females), with the mean ages being 58.8 years and 66.1 years respectively. The most common risk factor was hypertension, followed by diabetes mellitus. The most common type of STEMI was of the inferior wall. The median Door to ECG time was 10 minutes with 52.5% of patients achieving a Door to ECG time of less than 10 minutes. The median Door to Needle time was 70 minutes with only 8.2% of patients having a Door to needle time of less than 30 minutes. Approximately half of all patients thrombolysed showed greater than 50% ECG resolution. 94.3% of patients were alive at 6 months. Conclusions: Although the AHA recommended standards for thrombolysis were not met fully, these results show that despite the limitations of practice in a rural developing world setting, the majority of patients received timely and appropriate care. Although showing better performance than other local centers, changes within the system are still required to meet first world standards, improve patient care and potentially improve mortality. Hypertension and Diabetes are major risk factors in our population.


Assuntos
Humanos , Masculino , Feminino , Trinidad e Tobago , Infarto do Miocárdio com Supradesnível do Segmento ST , Fatores de Risco
6.
In. Faculty of Medical Sciences. Faculty Research Day, Book of Abstracts. St. Augustine, The University of the West Indies, November 9, 2017. .
Não convencional em Inglês | MedCarib | ID: biblio-1007353

RESUMO

Background: Hospital crowding, ED waiting times and high demand for unscheduled care all place significant burdens on secondary care services. This impacts on patient care, staff morale and overall functioning of the whole healthcare system. Patient referrals from other healthcare providers often is a result of limited access to resources, specialists or because of acuity. However, some referrals may be more suitable for lower acuity settings, with the benefit of better overall patient experience. In addition, duplication of contacts with a healthcare professional may not result in additional benefit to patients, but may necessarily add to the patient journey and contribute to crowding. Objectives: We aimed to determine the originator of referrals to the ED. We also aimed to determine the proportion of referred patients who received any meaningful intervention at the ED. Finally, we aimed to estimate the proportion of patients referred who may have been suitable for direct inpatient referral or management in a lower acuity setting. Methods: We conducted a prospective evaluation of all referrals to the ED of a large urban hospital over 7 days. Routine anonymised demographic, diagnosis and intervention data were collected and simple descriptive analysis was undertaken using Microsoft Excel®. A validated algorithm was applied to determine suitability for lower acuity settings, and contextual secondary analysis was applied to determine choice of altResults: There were 168 formal referrals during the period evaluated (mean 24/day), of which data was available for 151. Most referrals were on Monday and Thursday. 39.7% were referred from the four regional District Health Facilities (DHF). 12 % were referred by specialists. There were significantly higher referrals from Local Health Centres located more than 5km of the hospital compared with those closer, although this could have been due to greater numbers outside the 5 km radius. 5.5% were thought suitable for primary care management and 31% could have been referred directly to an inpatient team if this were available. The majority (51.3%) of referred patients received no significant intervention in the ED, with almost 1 in 7 suitable for outpatient management. Conclusions: A significant number of patients referred to the ED may have been more appropriately directed. Direct special admission, access to outpatient referral slots or telephone advice from senior ED or specialty clinicians may prevent up to a half of referrals being seen by an ED clinician. This may reduce unnecessary transport, improve time and resource utilization and decongest the ED and hospital. Further large scale evaluation is warranted to investigate the predictors of referral, control for seniority, and make more robust recommendations for improving the patient journey ernate pathways.


Assuntos
Humanos , Masculino , Feminino , Trinidad e Tobago , Serviço Hospitalar de Emergência , Encaminhamento e Consulta
7.
In. Faculty of Medical Sciences. Faculty Research Day, Book of Abstracts. St. Augustine, The University of the West Indies, November 9, 2017. .
Não convencional em Inglês | MedCarib | ID: biblio-1007496

RESUMO

Background: Open water swimming is one of the fastest growing mass participation sports worldwide. Analysis of triathlon deaths and cardiac arrests have shown that 75% of these occur in the swimming leg. Less than half had autopsy evidence of cardiac disease, and swimming ability or medical conditions do not appear responsible. Mandatory pre-competition clinical screening has been traditionally promoted in open water swimming to identify athletes at risk of illness or death during competition. The variable nature of this screening however, may not be useful in identifying at risk individuals. Objectives: We aimed to determine whether the presence of pre-existing medical conditions or abnormalities discovered on clinical screening [blood pressure (BP), heart rate (HR), auscultation of heart and lungs and apical palpation] predicted either failure to complete the race or the need for medical contact. Methods: We collected screening and competition data from participants in the two largest regional Open Water competitions in 2017 ­ including international (CCCAN) and mixed ability (ASATT Maracas) athletes. Anonymised data on event medical contacts, failure to finish and screening were analysed, with descriptive results and risk ratios calculated using MedCalc statistical software. Age adjusted values for BP and HR outside the 90th centile was considered abnormal. Results: Overall, 410 athletes participated for which data was available for 400 (mean age 17.9 years, range 7-79; 58% male). There were 30 medical contacts, of which 22 were unable to complete the race. There was no significant sex difference in those unable to complete. The majority of contacts was for the 10k race (60%) with the 5k (23%) the next most common. The most common reason for non-completion was exhaustion. Three scratched due to illness on competition day. 21 athletes were asthmatic, and 2 had cardiac murmurs, however all completed their respective races and none required any medical contact. Asthma (RR 0.3, p=0.39), abnormal physiological measurements (RR 1.32, p=0.84) and other medical conditions (RR 0.94, p=0.96) did not appear predictive. Current illness was the only significant predictor of failure to complete or medical contact. (RR 6.67; 95% CI 2.36 -18.84), however a larger sample may be necessary to show significance. Conclusions: There is much variability in pre-competition screening for Open Water swimming, as with other sports. Intuitively, only current illness predicts failure to complete/medical contact, although it is unclear whether this can be used as a surrogate for athletes at risk of more serious sequelae. Pre-existing medical conditions such as asthma do not appear to be contributory to non-completion, nor does moderately abnormal physiological measurements. Given that cardiac arrythmias or structural abnormalities are implicated in some deaths during open water swimming, adding resting electrocardiography and possible echocardiography to pre-participation medical examination may be reasonable, however the effectiveness of this strategy is disputed. There appears to be little benefit in clinical screening immediately prior to competition, with a more thorough, structured pre-training examination likely to be superior.


Assuntos
Humanos , Masculino , Feminino , Cobertura de Condição Pré-Existente , Medicina Esportiva , Natação , Trinidad e Tobago
8.
In. Faculty of Medical Sciences. Faculty Research Day, Book of Abstracts. St. Augustine, The University of the West Indies, November 9, 2017. .
Não convencional em Inglês | MedCarib | ID: biblio-1007821

RESUMO

Background: Sepsis and its sequelae poses a significant socio-economic burden on health care systems globally. Risk stratification plays a fundamental role in emergency department management, since early and aggressive management in high-risk cohorts leads to improved outcomes. Several risk stratification tools exist but in the local setting (developing country with high chronic disease burden) there is no standardised recommendation for beside utilisation. Objectives: We aimed to compare the ability of the quick Sepsis-related Organ Failure Assessment (qSOFA) score with the Systemic Inflammatory Response Syndrome (SIRS) criteria and National Early Warning Score (NEWS) to detect and risk stratify patients with presumed sepsis outside of the intensive care unit (ICU). Methods: A prospective observational cohort study was conducted at a public tertiary hospital during the period May to June 2017. Ethical and institutional approval was secured and informed consent was sought from study participants aged eighteen (18) years and older. Demographic and clinical data were collected via a data collection instrument and statistical analysis was undertaken using IBM SPSS v23. Results: 304 patients were treated for presumed sepsis. The primary outcomes of in-hospital death or intensive care unit admission were seen in 14.8%. Discrimination for the primary outcome was highest for NEWS (AUROC 0.88 [95% CI 0.83-0.94]) followed by qSOFA (AUROC 0.82 [95% CI 0.74-0.89]) and SIRS (AUROC 0.69 [95% CI 0.61-0.77]). A NEWS value of ≥4 resulted in a sensitivity of 93.3%, and negative predictive value of 98.3% (p<0.001). A qSOFA score ≥2 demonstrated a specificity of 94.6 % and a negative predictive value of 91.4% (p<0.001). A SIRS criteria score ≥2 resulted in a sensitivity of 88.9%, and a negative predictive value of 95.0% (p=0.001). Univariate analysis showed that: need for supplemental oxygen, an oxygen saturation less than 91%, a Glasgow Coma Scale <15 and non-selfpresentation were associated with the highest odds ratios for death in-hospital or ICU admission. Conclusions: Urgent identification of high-risk patients with presumed infection is critical in achieving a positive outcome. NEWS was superior to both qSOFA AND SIRS in predicting in-hospital mortality and need for ICU admission A qSOFA score ≥2 demonstrated a high specificity but poor sensitivity, thus limiting its use as a bedside tool. The findings of this study are consistent with the Sepsis-3 guidelines, which recommend qSOFA as being superior to SIRS criteria. However, we found that NEWS had a superior predictive value to both. Its role in the identification of high-risk subjects should be further evaluated.


Assuntos
Humanos , Masculino , Feminino , Trinidad e Tobago , Sepse , Insuficiência de Múltiplos Órgãos , Síndrome de Resposta Inflamatória Sistêmica
9.
Emerg Med J ; 23(6): 456-60, 2006 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-16714508

RESUMO

OBJECTIVES: To review compliance with our emergency department (ED) guideline on the imaging of ingested non-hazardous metallic foreign bodies in children, investigate adverse outcomes, and make suggestions for improving the guideline. METHODS: Retrospective analysis of patients presenting in a 3 year period to a paediatric ED with a history of possible metallic foreign body (MFB) ingestion, who were managed according to an ED guideline. RESULTS: We identified 430 episodes of possible MFB ingestion, of which 422 were eligible for inclusion in the study. Compliance with the guideline was 77.8% with no significant adverse events. The exclusion of symptoms as a criterion for x ray results in a reduction in the x ray rate of 56% in the symptomatic group with no increase in adverse events. CONCLUSION: A handheld metal detector (HMD) can be safely and reliably used in lieu of plain radiography to investigate children with a history of MFB ingestion, irrespective of symptoms and without incurring any significant adverse events.


Assuntos
Sistema Digestório , Serviço Hospitalar de Emergência/normas , Corpos Estranhos/diagnóstico , Fidelidade a Diretrizes , Metais , Adolescente , Algoritmos , Criança , Pré-Escolar , Fenômenos Eletromagnéticos/instrumentação , Feminino , Corpos Estranhos/etiologia , Humanos , Lactente , Masculino , Guias de Prática Clínica como Assunto , Estudos Retrospectivos
11.
Prenat Diagn ; 17(10): 933-40, 1997 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-9358573

RESUMO

A cytogenetic survey and follow-up studies were performed in eight cases of full, mosaic, and pseudomosaic trisomy 9 prenatally diagnosed among 36,213 prenatal samples in our department between August 1970 and July 1996. Besides conventional chromosome analysis, interphase fluorescent in situ hybridization (FISH) was employed. FISH turned out to be a rapid and accurate method for verification of trisomy cell lines and could provide additional information to the prenatal cytogenetic results. FISH also enables the study of uncultured specimens of amniotic fluid, not accessible for traditional cytogenetic analysis. In three cases, retrospective DNA analysis showed the supernumerary chromosome 9 to be of maternal origin. The disomic cell lines in both mosaic trisomy 9 cases showed maternal uniparental disomy.


Assuntos
Líquido Amniótico/química , Vilosidades Coriônicas/química , Aberrações Cromossômicas/diagnóstico , Cromossomos Humanos Par 9/genética , Alelos , Líquido Amniótico/citologia , Aberrações Cromossômicas/diagnóstico por imagem , Aberrações Cromossômicas/genética , Transtornos Cromossômicos , Feminino , Seguimentos , Marcadores Genéticos , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Repetições de Microssatélites/genética , Reação em Cadeia da Polimerase , Gravidez , Resultado da Gravidez , Estudos Prospectivos , Ultrassonografia Pré-Natal
12.
Hum Reprod ; 12(4): 682-6, 1997 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-9159424

RESUMO

Prenatal cytogenetic analysis of 71 fetuses conceived by intracytoplasmic sperm injection (ICSI) resulted in the detection of nine (12.7%) chromosome aberrations including two cases of 47,XXY, four cases involving a 45,X cell line and three autosomal trisomies. Molecular analysis of the parental origin of the deleted or supernumerary chromosome was performed by using polymorphic microsatellite markers. Six cases involving a sex chromosome abnormality were found to be of paternal origin while the two trisomic cases that could be analysed were of maternal origin. Two cases involved the same infertile couple who had two consecutive ICSI pregnancies terminated because of a chromosome abnormality. The replaced embryos in both cases originated from a single batch of ICSI fertilized oocytes of which part was used to initiate the first pregnancy and part was cryopreserved and used to initiate the second pregnancy.


Assuntos
Aberrações Cromossômicas/diagnóstico , Fertilização In Vitro , Pais , Diagnóstico Pré-Natal , Interações Espermatozoide-Óvulo , Transtornos Cromossômicos , Citoplasma , Feminino , Humanos , Cariotipagem , Masculino , Microinjeções , Repetições de Microssatélites , Linhagem , Polimorfismo Genético , Gravidez
13.
Am J Hum Genet ; 57(2): 382-7, 1995 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-7668264

RESUMO

Hereditary multiple exostoses (EXT) is an autosomal dominant skeletal disorder characterized by the formation of multiple exostoses on the long bones. EXT is genetically heterogeneous, with at least three loci involved: one (EXT1) in the Langer-Giedion region on 8q23-q24, a second (EXT2) in the pericentromeric region of chromosome 11, and a third (EXT3) on chromosome 19p. In this study, linkage analysis in seven extended EXT families, all linked to the EXT2 locus, refined the localization of the EXT2 gene to a 3-cM region flanked by D11S1355 and D11S1361/D11S554. This implies that the EXT2 gene is located at the short arm of chromosome 11, in band 11p11-p12. The refined localization of EXT2 excludes a number of putative candidate genes located in the pericentromeric region of chromosome 11 and facilitates the process of isolating the EXT2 gene.


Assuntos
Cromossomos Humanos Par 11 , Exostose Múltipla Hereditária/genética , Ligação Genética , Humanos , Escore Lod , Linhagem
14.
Eur J Hum Genet ; 3(2): 78-86, 1995.
Artigo em Inglês | MEDLINE | ID: mdl-7552145

RESUMO

Tuberous sclerosis (TSC) is a heterogeneous multisystem disorder with loci on 9q34 (TSC1) and 16p13.3 (TSC2). The TSC2 gene has recently been isolated, while the TSC1 gene has been mapped to a 5-cM region between the markers D9S149 and D9S114. In our effort to localise and clone TSC1, we have obtained three adjacent cosmid contigs that cover the core of the candidate region. The three contigs comprise approximately 600 kb and include 80 cosmids, 2 P1 clones, 1 YAC, 5 anonymous markers and 4 sequence-tagged sites. The ABO blood group locus, the Surfeit gene cluster, the dopamine beta-hydroxylase gene (DBH) and VAV2, a homologue of the vav oncogene, have all been mapped within the contigs. Exon trapping and mutation screening experiments, aimed at identifying the TSC1 gene, are currently in progress.


Assuntos
Cromossomos Humanos Par 9 , Cosmídeos/genética , Proteínas/genética , Esclerose Tuberosa/genética , Bacteriófago P1/genética , Sequência de Bases , Passeio de Cromossomo , Cromossomos Artificiais de Levedura , Dopamina beta-Hidroxilase/genética , Marcadores Genéticos , Humanos , Proteínas de Membrana/genética , Dados de Sequência Molecular , Proteínas Oncogênicas/genética , Polimorfismo de Fragmento de Restrição , Proteínas Proto-Oncogênicas c-vav , Mapeamento por Restrição , Sitios de Sequências Rotuladas
15.
Ann Hum Genet ; 59(1): 25-37, 1995 01.
Artigo em Inglês | MEDLINE | ID: mdl-7762982

RESUMO

A novel widely expressed homologue of the VAV oncogene, VAV2 (53% identical residues), has been identified within the critical region for the tuberous sclerosis gene, TSC1, on human chromosome 9q34. By Southern blot analysis, analysis of allele-specific transcription, and direct sequencing of the VAV2 mRNA/cDNA from patient lymphoblastoid cell lines, we demonstrate that both alleles of this gene are expressed in TSC patients and there are no significant mutations. VAV consists of a novel array of signalling domains and is thought to play an important role in signal transduction in haematopoietic tissues where it is exclusively expressed. VAV2 is likely to serve a similar role more generally in mammalian cells, but is not the TSC1 gene.


Assuntos
Proteínas de Ciclo Celular , Cromossomos Humanos Par 9 , Proteínas Oncogênicas/genética , Oncogenes , Esclerose Tuberosa/genética , Alelos , Sequência de Aminoácidos , Sequência de Bases , Mapeamento Cromossômico , Análise Mutacional de DNA , DNA Complementar/genética , Humanos , Dados de Sequência Molecular , Especificidade de Órgãos , Proteínas Proto-Oncogênicas/genética , Proteínas Proto-Oncogênicas c-vav , Alinhamento de Sequência , Homologia de Sequência de Aminoácidos
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