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1.
Eur J Prosthodont Restor Dent ; 30(1): 49-54, 2022 Feb 28.
Artigo em Inglês | MEDLINE | ID: mdl-33848409

RESUMO

Cleft Lip and/or Palate (CLP) is the most common cranio-facial abnormality thought to be caused by a combination of genetic and environmental factors causing challenges with feeding, dental development and speech. Cleft affected individuals often present a unique set of challenges with regards to their oro-facial and dental development and require multidisciplinary care. This article aims to describe the role of the restorative dentist in the multidisciplinary management of cleft affected individuals and outlines the various clinical presentations and restorative challenges. This article describes the various treatment modalities provided for cleft affected individuals under the National Health Service (NHS) at Liverpool University Dental Hospital (LUDH) and ranges from minimally invasive techniques to conventional fixed and removable prosthodontics.


Assuntos
Fenda Labial , Fissura Palatina , Fenda Labial/cirurgia , Fissura Palatina/cirurgia , Humanos , Medicina Estatal
2.
Curr Rheumatol Rep ; 22(6): 23, 2020 05 14.
Artigo em Inglês | MEDLINE | ID: mdl-32410005

RESUMO

PURPOSE OF REVIEW: Cardiac involvement in patients with ankylosing spondylitis (AS) generally manifests itself as aortic insufficiency, aortitis, disturbance in cardiac conduction, and myocardial dysfunction. We have used a case-based approach to review the current state of the art knowledge regarding the diagnosis and management of aortic valve disease and aortitis in patients with AS. RECENT FINDINGS: The risk for aortic valve disease and aortic valve replacement or repair is significantly higher than in people without AS, and this risk increases with age. Echocardiography, cardiac MRI, and CT can serve as effective tools for screening and follow-up. Surgical repair/replacement remains the mainstay of therapy for aortic insufficiency and aortic dilation, whereas transcatheter-based techniques may be favorable in the setting of aortic stenosis. Aortic valve and atrioventricular conduction abnormalities contribute to overall cardiovascular burden in AS. Optimal timing and therapeutic technique are dependent on assessment of overall risk and serial follow-up.


Assuntos
Valvopatia Aórtica , Estenose da Valva Aórtica , Espondilite Anquilosante , Valva Aórtica/diagnóstico por imagem , Valva Aórtica/cirurgia , Valvopatia Aórtica/etiologia , Valvopatia Aórtica/terapia , Estenose da Valva Aórtica/etiologia , Estenose da Valva Aórtica/cirurgia , Implante de Prótese de Valva Cardíaca , Humanos , Fatores de Risco , Espondilite Anquilosante/complicações , Espondilite Anquilosante/terapia , Resultado do Tratamento
3.
Br Dent J ; 228(6): 396, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-32221419
4.
Public Health ; 162: 98-103, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29990618

RESUMO

OBJECTIVES: To examine the differences in outcomes related to variable provision of antivirals in care home respiratory outbreaks. STUDY DESIGN: This is a retrospective observational study. METHODS: Routinely collected outbreak surveillance data reported from care home staff was recorded using a standard template and extracted from the Public Health England health protection electronic records. Data included numbers of people affected, provision of oseltamivir, hospitalization, and deaths during the outbreak in the care home. Oseltamivir provision was categorized by proportion of eligible residents prescribed it on advice. Additional data on microbiological diagnoses were obtained directly from the hospital laboratories. Logistic regression was used to examine associations between oseltamivir provision and hospitalizations and deaths in care homes. RESULTS: One hundred and sixty-eight outbreaks were reported from 28th July 2016 until 27th March 2017, affecting 1459 residents and 347 staff. There were 76 hospital admissions and 37 deaths overall. Although deaths and hospital admissions also occurred in outbreaks caused by other respiratory viruses, outbreaks caused by influenza had the highest median number of people affected and a greater proportion of hospital admissions and deaths. Of the 56 outbreaks caused by influenza, there was a significant increase in the odds of the care home reporting deaths when oseltamivir was not used (odds ratio = 8.15, 95% confidence interval = 1.38-48.20, P = 0.02). There were also non-significant reductions in duration of outbreak and hospital admissions in care home outbreaks with oseltamivir treatment. CONCLUSIONS: Partial or no provision of oseltamivir was associated with poorer outcomes in laboratory-confirmed influenza outbreaks.


Assuntos
Surtos de Doenças/prevenção & controle , Inibidores Enzimáticos/uso terapêutico , Influenza Humana/tratamento farmacológico , Neuraminidase/antagonistas & inibidores , Oseltamivir/uso terapêutico , Inglaterra/epidemiologia , Hospitalização/estatística & dados numéricos , Humanos , Influenza Humana/epidemiologia , Influenza Humana/mortalidade , Instituições Residenciais , Estudos Retrospectivos , Resultado do Tratamento
6.
Respir Med ; 108(8): 1100-7, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-24947900

RESUMO

UNLABELLED: Obesity is a major risk factor for poorly controlled asthma, but the reasons for poor asthma control in this patient population are unclear. Symptoms of depression have been associated with poor asthma control, and increase with higher body mass index (BMI). The purpose of this study was to assess whether depressive symptoms underlie poor asthma control in obesity. METHODS: We determined the relationship between BMI, psychological morbidity and asthma control at baseline in a well-characterized patient population participating in a clinical trial conducted by the American Lung Association-Asthma Clinical Research Centers. RESULTS: Obese asthmatic participants had increased symptoms of depression (Center for Epidemiologic Studies Depression Scale score in lean 10.1 ± 8.1, overweight 10.0 ± 8.1, obese 12.4 ± 9.9; p = 0.03), worse asthma control (Juniper Asthma Control Questionnaire score in lean 1.43 ± 0.68, overweight 1.52 ± 0.71, obese 1.76 ± 0.75; p < 0.0001), and worse asthma quality of life (scores in lean 5.21 ± 1.08, overweight 5.08 ± 1.05, obese 4.64 ± 1.09; p < 0.0001). Asthmatics with obesity and those with symptoms of depression both had a higher risk of having poorly controlled asthma (adjusted odds ratio of 1.83 CI 1.23-3.52 for obesity, and 2.08 CI 1.23-3.52 for depression), but there was no interaction between the two. CONCLUSION: Obesity and symptoms of depression are independently associated with poor asthma control. As depression is increased in obese asthmatics it may be an important co-morbidity contributing to poor asthma control in this population, but factors other than depression also contribute to poor asthma control in obesity.


Assuntos
Asma/prevenção & controle , Depressão/complicações , Obesidade/psicologia , Adulto , Asma/fisiopatologia , Asma/psicologia , Índice de Massa Corporal , Feminino , Volume Expiratório Forçado/fisiologia , Humanos , Masculino , Sobrepeso/psicologia , Qualidade de Vida , Fatores de Risco , Magreza/psicologia , Capacidade Vital/fisiologia
7.
Gulf J Oncolog ; 1(14): 87-9, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23996873

RESUMO

UNLABELLED: Rosai-Dorfman Syndrome (RDD) is a rare, benign, self-limiting disorder which is characterized by the non-malignant proliferation of distinctive histiocytic cell within lymphatic system. RDD has been described as a dynamic entity in the spectrum of histiocytosis with non-Langerhans cell histiocytosis at one end and Langerhans cell histiocytosis at the other. The exact etiology of this disease is uncertain despite widespread search for infectious or immunological reasons. We present a case of purely cutaneous Rosai-Dorfman Syndrome presenting as abdominal wall swelling. KEYWORDS: Rosai-Dorfman Disease, Lymphoma.


Assuntos
Histiocitose de Células de Langerhans , Histiocitose Sinusal , Edema , Humanos , Sistema Linfático , Síndrome
8.
Euro Surveill ; 15(31)2010 Aug 05.
Artigo em Inglês | MEDLINE | ID: mdl-20738991

RESUMO

We report on a case of toxigenic Corynebacterium ulcerans infection in a fully immunised veterinary student, investigated in London, United Kingdom, in May 2010. There was no ongoing transmission in human contacts. Possible animal sources were identified.


Assuntos
Técnicos em Manejo de Animais , Corynebacterium diphtheriae/isolamento & purificação , Difteria/fisiopatologia , Estudantes , Corynebacterium diphtheriae/imunologia , Corynebacterium diphtheriae/patogenicidade , Difteria/transmissão , Educação em Veterinária , Humanos , Londres , Medição de Risco , Adulto Jovem
10.
Heart ; 94(5): 623-7, 2008 May.
Artigo em Inglês | MEDLINE | ID: mdl-18070944

RESUMO

OBJECTIVE: Despite the link between positive coronary remodelling and acute ischaemic events, no data exist about the impact of arterial remodelling on subsequent progression of coronary atherosclerosis. The objective of this study was to examine whether extent and direction of arterial remodelling are predictors of progression of coronary atherosclerosis. DESIGN, SETTING AND PATIENTS: From the Reversal of Atherosclerosis with Aggressive Lipid Lowering (REVERSAL) trial, 210 focal coronary lesions (single lesion per patient) were identified with

Assuntos
Doença da Artéria Coronariana/diagnóstico por imagem , Vasos Coronários/diagnóstico por imagem , Ultrassonografia de Intervenção/métodos , Adulto , Idoso , LDL-Colesterol/efeitos dos fármacos , LDL-Colesterol/metabolismo , Angiografia Coronária/métodos , Doença da Artéria Coronariana/tratamento farmacológico , Doença da Artéria Coronariana/fisiopatologia , Progressão da Doença , Feminino , Seguimentos , Humanos , Inibidores de Hidroximetilglutaril-CoA Redutases/uso terapêutico , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Ensaios Clínicos Controlados Aleatórios como Assunto , Resultado do Tratamento
12.
Minerva Cardioangiol ; 55(1): 83-94, 2007 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-17287683

RESUMO

The healthcare burden of valvular heart disease continues to increase as our population ages. Because of advances in operative techniques and cardiac anesthesiology, surgery has excellent safety and durability for many patients, and surgery remains the gold standard for treating valvular heart disease. Because many patients have comorbidities that increase operative risk, interest in catheter-based valve repair and replacement has grown. Early human experience with aortic stent-valve prostheses has been quite encouraging. For mitral regurgitation, percutaneous annuloplasty and leaflet repair are being developed by numerous companies, and early human studies have demonstrated feasibility of percutaneous repair. Continuing advances in technology and experience promise to expand the role of percutaneous repair and replacement in the treatment of valvular heart disease. Ongoing trials will help define long-term durability and safety, along with appropriate patient selection for percutaneous treatment.


Assuntos
Angioplastia Coronária com Balão/métodos , Valva Aórtica , Doenças das Valvas Cardíacas/terapia , Implante de Prótese de Valva Cardíaca/métodos , Valva Mitral , Animais , Próteses Valvulares Cardíacas , Humanos , Desenho de Prótese , Stents , Resultado do Tratamento
14.
Clin Appl Thromb Hemost ; 12(3): 369-72, 2006 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-16959693

RESUMO

Pulmonary embolism (PE) and Deep vein thrombosis (DVT) are separate but related aspects of the same dynamic process termed as venous thrombembolism (VTE). The existing Asian literature has shown a wide variation in the prevalence of VTE, with very limited data from the Indian subcontinent. Between January 2001 and July 2004, 1,552 patients with clinically suspected lower limb DVT underwent a combined ascending radionuclide venogram and lung perfusion scan for assessment of the total thrombus burden. Of 744 patients with radionuclide venography proven DVT, 294 (40%) had a high probability lung scan. Nearly half of these patients were asymptomatic for pulmonary embolism. The high prevalence of PE in patients with DVT suggests the need for evaluation of thrombus load in the venous as well as pulmonary circulation. A combination radionuclide ascending venography with lung perfusion scan is a useful and reliable single test for this purpose.


Assuntos
Embolia Pulmonar/diagnóstico , Índice de Gravidade de Doença , Trombose Venosa/diagnóstico , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Flebografia , Guias de Prática Clínica como Assunto , Prevalência , Cintilografia , Trombose Venosa/diagnóstico por imagem , Relação Ventilação-Perfusão
15.
Hear Res ; 205(1-2): 44-52, 2005 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-15953514

RESUMO

It is well known that aspirin consumption temporarily reduces overall otoacoustic emission (OAE) amplitude in humans. However, little is known about changes in the separate components of distortion product otoacoustic emissions (DPOAE), which may be distinguished by examining phase gradients. The effects of aspirin on the phase gradient of the DPOAE 2F1-F2 obtained with fixed frequency ratio sweeps were studied longitudinally in a group of twelve subjects in whom a temporary hearing loss was induced by aspirin consumption. DPOAE were recorded daily for two days pre-aspirin consumption, during the three days of aspirin consumption and two days afterwards. DP-grams were recorded over a restricted frequency range centered on 2,3,4 and 6 kHz with the following stimulus levels: L1/L2 of 60/50-80/70 in 10-dB steps. The effects of aspirin on the phase gradients varied between the subjects and across frequency: the general trend was that the phase gradient became steeper across successive sessions for the higher frequencies, while no significant effect was found at the lower frequencies. These results suggest that aspirin may have more persistent effects on cochlear function than are disclosed by measurements of hearing threshold level or DPOAE amplitude. Particularly, DPOAE phase gradient appears to be increased by aspirin consumption and has not recovered two days after cessation of aspirin intake, despite almost complete recovery of DPOAE amplitude and hearing threshold levels. These findings may suggest differential effects on the distortion and reflection mechanisms considered to underlie DPOAE generation.


Assuntos
Anti-Inflamatórios não Esteroides/farmacologia , Aspirina/farmacologia , Emissões Otoacústicas Espontâneas/efeitos dos fármacos , Estimulação Acústica , Adulto , Anti-Inflamatórios não Esteroides/sangue , Aspirina/sangue , Cóclea/efeitos dos fármacos , Relação Dose-Resposta a Droga , Células Ciliadas Auditivas Externas/efeitos dos fármacos , Perda Auditiva/induzido quimicamente , Humanos , Masculino , Emissões Otoacústicas Espontâneas/fisiologia , Tempo de Reação
16.
J Invasive Cardiol ; 13(12): 767-71, 2001 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-11731685

RESUMO

BACKGROUND: Carotid artery stenting is being used as an alternative to carotid endarterectomy, both within the context of clinical trials and in non-surgical candidates. Though stenting is known to activate platelets, the role of antithrombotic therapy in carotid stenting has not been fully characterized. METHODS AND RESULTS: Consecutive patients (n = 162) were followed in a single-center carotid stent registry. The cumulative rate of 30-day death, stroke, transient ischemic attack and myocardial infarction in those patients receiving a thienopyridine was determined, as were rates of stent thrombosis and intracranial hemorrhage. The mean age of the patients was 70.3 years and there was an extremely high prevalence of cardiovascular comorbidities, including 40% with unstable angina. The carotid lesion was symptomatic in 59% of patients. The average pre-treatment stenosis was 83%. The cumulative 30-day rate of death, stroke, transient ischemic attack and myocardial infarction was 5.6%. Specifically, in the patients who received ticlopidine (n = 23), the rate was 13%, versus 4.3% in the patients who received clopidogrel (n = 139) (p = 0.01). In this series, there were no cases of stent thrombosis and 1 intracranial hemorrhage. CONCLUSION: Dual antiplatelet therapy with clopidogrel plus aspirin in patients receiving carotid artery stents is associated with a low rate of ischemic events. Furthermore, clopidogrel appears superior to ticlopidine. Thus, our findings lend support to the dual antiplatelet strategy of clopidogrel plus aspirin for patients undergoing carotid artery stenting.


Assuntos
Aspirina/uso terapêutico , Estenose das Carótidas/cirurgia , Inibidores da Agregação Plaquetária/uso terapêutico , Stents , Ticlopidina/análogos & derivados , Ticlopidina/uso terapêutico , Idoso , Idoso de 80 Anos ou mais , Estenose das Carótidas/mortalidade , Clopidogrel , Terapia Combinada , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Implantação de Prótese/efeitos adversos , Acidente Vascular Cerebral/etiologia , Acidente Vascular Cerebral/mortalidade , Análise de Sobrevida
17.
J Am Coll Cardiol ; 38(7): 1994-2000, 2001 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-11738306

RESUMO

OBJECTIVES: This study was conducted to evaluate follow-up results in patients with hypertrophic obstructive cardiomyopathy (HOCM) who underwent either percutaneous transluminal septal myocardial ablation (PTSMA) or septal myectomy. BACKGROUND: Controversy exists with regard to these two forms of treatment for patients with HOCM. METHODS: Of 51 patients with HOCM treated, 25 were treated by PTSMA and 26 patients via myectomy. Two-dimensional echocardiograms were performed before both procedures, immediately afterwards and at a three-month follow-up. The New York Heart Association (NYHA) functional class was obtained before the procedures and at follow-up. RESULTS: Interventricular septal thickness was significantly reduced at follow-up in both groups (2.3 +/- 0.4 cm vs. 1.9 +/- 0.4 cm for septal ablation and 2.4 +/- 0.6 cm vs. 1.7 +/- 0.2 cm for myectomy, both p < 0.001). Estimated by continuous-wave Doppler, the resting pressure gradient (PG) across the left ventricular outflow tract (LVOT) significantly decreased immediately after the procedures in both groups (64 +/- 39 mm Hg vs. 28 +/- 29 mm Hg for PTSMA, 62 +/- 43 mm Hg vs. 7 +/- 7 mm Hg for myectomy, both p < 0.0001). At three-month follow-up, the resting PG remained lower in the PTSMA and myectomy groups (24 +/- 19 mm Hg and 11 +/- 6 mm Hg, respectively, vs. those before procedures, both p < 0.0001). The NYHA functional class was also significantly improved in both groups (3.5 +/- 0.5 vs. 1.9 +/- 0.7 for PTSMA, 3.3 +/- 0.5 vs. 1.5 +/- 0.7 for myectomy, both p < 0.0001). CONCLUSIONS: Both myectomy and PTSMA reduce LVOT obstruction and significantly improve NYHA functional class in patients with HOCM. However, there are benefits and drawbacks for each therapeutic method that must be counterbalanced when deciding on treatment for LVOT obstruction.


Assuntos
Cateterismo Cardíaco , Cardiomiopatia Hipertrófica/cirurgia , Septos Cardíacos/cirurgia , Procedimentos Cirúrgicos Minimamente Invasivos , Adulto , Idoso , Cardiomiopatia Hipertrófica/diagnóstico por imagem , Ecocardiografia , Feminino , Seguimentos , Septos Cardíacos/diagnóstico por imagem , Humanos , Masculino , Pessoa de Meia-Idade , Avaliação de Processos e Resultados em Cuidados de Saúde , Complicações Pós-Operatórias/diagnóstico por imagem , Obstrução do Fluxo Ventricular Externo/diagnóstico por imagem , Obstrução do Fluxo Ventricular Externo/cirurgia
18.
J Invasive Cardiol ; 13(11): 732-5, 2001 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-11689714

RESUMO

BACKGROUND: Angioplasty and stenting are becoming increasingly accepted techniques for the treatment of carotid stenosis. However, the optimal stent for carotid intervention is not known. METHODS: We compared the short- and intermediate-term results of carotid stenting using either nitinol or stainless-steel self-expanding stents in 178 high surgical risk patients undergoing carotid stenting at our institution. Of these 178 patients, eighty-nine received stainless-steel stents and 89 received nitinol stents. The groups were similar with respect to age, gender, diabetes, hypertension, left ventricular function, and symptom status. There were more patients with contralateral carotid occlusion in the nitinol stent group. Independent neurological evaluation was performed in all patients pre- and post-carotid stenting. RESULTS: At 6 months, there was a similar incidence of stroke (3.3% versus 2.2%) in the stainless-steel group and nitinol stent group, respectively. There was higher 6-month mortality noted in the stainless-steel stent group, but there were no neurological deaths in either group. CONCLUSIONS: In a single-center patient cohort with similar baseline characteristics, patients receiving nitinol stents and stainless-steel stents had similar neurological outcomes.


Assuntos
Artéria Carótida Primitiva/cirurgia , Artéria Carótida Externa/cirurgia , Estenose das Carótidas/cirurgia , Stents , Idoso , Idoso de 80 Anos ou mais , Ligas/farmacologia , Artéria Carótida Primitiva/diagnóstico por imagem , Artéria Carótida Primitiva/efeitos dos fármacos , Artéria Carótida Externa/diagnóstico por imagem , Artéria Carótida Externa/efeitos dos fármacos , Estenose das Carótidas/complicações , Estenose das Carótidas/mortalidade , Segurança de Equipamentos , Feminino , Seguimentos , Oclusão de Enxerto Vascular/diagnóstico por imagem , Oclusão de Enxerto Vascular/etiologia , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Ohio/epidemiologia , Complicações Pós-Operatórias/diagnóstico por imagem , Complicações Pós-Operatórias/mortalidade , Radiografia , Acidente Vascular Cerebral/etiologia , Análise de Sobrevida , Fatores de Tempo , Resultado do Tratamento
19.
Stroke ; 32(10): 2328-32, 2001 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-11588321

RESUMO

BACKGROUND AND PURPOSE: Abciximab has been shown to decrease periprocedural ischemic complications after coronary intervention. However, the adjunctive use of abciximab in carotid stenting has not been adequately studied. We sought to determine the efficacy and safety of abciximab in carotid stenting. METHODS: Carotid stenting was performed in 151 consecutive patients determined to be at high surgical risk by a vascular surgeon. Of these, 128 consecutive patients received adjuvant therapy with abciximab (0.25 mg/kg bolus before the lesion was crossed with guidewire and 0.125 micro. kg(-1). min(-1) infusion for 12 hours.). A heparin bolus of 50 U/kg was given, and activated clotting time was maintained between 250 to 300 seconds. All patients received aspirin and thienopyridine. Procedural and 30-day outcomes were compared between the control (n=23) and abciximab (n=128) groups. RESULTS: The 2 groups had similar baseline characteristics. Procedural events were more frequent in the control group (8%; 1 major stroke and 1 neurological death) compared with the abciximab group (1.6%; 1 minor stroke and 1 retinal infarction; P=0.05). On 30-day follow-up, 1 patient presented with delayed intracranial hemorrhage in the abciximab group. There were no other major bleeding complications. CONCLUSIONS: Adjunctive use of abciximab for carotid stenting is safe with no increase in the risk of intracranial hemorrhage. This adjunctive therapy with potent glycoprotein IIb/IIIa inhibition may help to reduce periprocedural adverse events in patients undergoing carotid stenting.


Assuntos
Anticorpos Monoclonais/uso terapêutico , Implante de Prótese Vascular , Doenças das Artérias Carótidas/cirurgia , Fragmentos Fab das Imunoglobulinas/uso terapêutico , Complexo Glicoproteico GPIIb-IIIa de Plaquetas/antagonistas & inibidores , Stents , Tromboembolia/prevenção & controle , Abciximab , Adjuvantes Farmacêuticos/uso terapêutico , Idoso , Anticorpos Monoclonais/efeitos adversos , Implante de Prótese Vascular/efeitos adversos , Feminino , Oclusão de Enxerto Vascular/etiologia , Oclusão de Enxerto Vascular/prevenção & controle , Humanos , Fragmentos Fab das Imunoglobulinas/efeitos adversos , Hemorragias Intracranianas/etiologia , Masculino , Inibidores da Agregação Plaquetária/uso terapêutico , Medição de Risco , Fatores de Risco , Stents/efeitos adversos , Tromboembolia/etiologia , Resultado do Tratamento , Ativador de Plasminogênio Tipo Uroquinase/uso terapêutico
20.
Am J Med Genet ; 105(6): 489-97, 2001 Aug 08.
Artigo em Inglês | MEDLINE | ID: mdl-11496363

RESUMO

Evidence from animal self-administration and human genetics studies suggests that the serotonin(1B) (5-HT(1B)) receptor may be involved in modulating responses to cocaine or alcohol. We hypothesize that polymorphisms, including single-nucleotide polymorphisms (SNPs), in the human 5-HT(1B) receptor gene, may be associated with individual differences in vulnerability to cocaine or alcohol abuse or dependence. A total of 210 subjects were studied, including individuals with a primary diagnosis (DSM-IV criteria) of cocaine abuse or dependence, alcohol abuse or dependence, and controls with no history of previous or current illicit drug or alcohol abuse or dependence. Genomic DNA samples were isolated from each individual. For 157 of the subjects, polymerase chain reaction (PCR) was used to amplify the entire coding region of the 5-HT(1B) receptor gene as well as parts of the 5' and 3' untranslated regions. PCR products were sequenced in forward and reverse directions on an automated sequencer. Amplified DNA from an additional 53 subjects was sequenced in the 5' untranslated region to gain additional data on the frequency of one identified SNP. Seven polymorphisms were identified: one novel SNP in the 5' untranslated region (UTR) of the gene (A-161T); one SNP not reported in any published scientific communication (but found to be recorded in GenBank) in the 3' UTR (A1180G); two novel dinucleotide deletions at positions - 184/- 183 and - 182/- 181; and three previously identified SNPs (T-261G, C129T, G861C). Data were stratified by ethnicity and pooled Relative Risk was calculated for combined alcohol abuse and dependence cases and controls, and also for combined cocaine abuse and dependence cases and controls. No significant differences between cases and controls were found.


Assuntos
Polimorfismo de Nucleotídeo Único , Receptores de Serotonina/genética , Alcoolismo/genética , Alelos , População Negra/genética , Transtornos Relacionados ao Uso de Cocaína/genética , DNA/química , DNA/genética , Análise Mutacional de DNA , Feminino , Frequência do Gene , Variação Genética , Genótipo , Hispânico ou Latino/genética , Humanos , Masculino , Receptor 5-HT1B de Serotonina , Fatores Sexuais , População Branca/genética
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