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1.
Med J Aust ; 218(4): 174-179, 2023 03 06.
Artigo em Inglês | MEDLINE | ID: mdl-36524321

RESUMO

OBJECTIVE: To identify characteristics associated with the hospitalisation and death of people with COVID-19 living in residential aged care facilities (RACFs). DESIGN: Retrospective cohort study. SETTING, PARTICIPANTS: All confirmed (polymerase chain reaction testing) or probable SARS-CoV-2 infections (rapid antigen tests) in residents of the 86 RACFs in the Metro South Hospital and Health Service area (southeast Queensland), 13 December 2021 - 24 January 2022. MAIN OUTCOME MEASURES: Hospitalisation within 14 days or death within 28 days of COVID-19 diagnosis. RESULTS: Of 1071 RACF residents with COVID-19, 151 were hospitalised within 14 days and 126 died within 28 days of diagnosis. Likelihood of death increased with age (per five years: adjusted odds ratio [aOR], 1.38; 95% confidence interval [CI], 1.21-1.57), but not that of hospitalisation. Men were more likely to be hospitalised (aOR, 1.7; 95% CI, 1.2-2.4) or die (aOR, 2.5; 95% CI, 1.7-3.6) than women. The likelihood of hospitalisation was greater for those with dementia (aOR, 1.9; 95% CI, 1.2-3.0), heart failure (aOR, 1.7; 95% CI, 1.1-2.7), chronic kidney disease (aOR, 1.7; 95% CI, 1.1-2.5), or asthma (aOR, 2.2; 95% CI, 1.2-3.8). The likelihood of death was greater for residents with dementia (aOR, 2.2; 95% CI, 1.3-3.7), diabetes mellitus (aOR, 1.9; 95% CI, 1.3-3.0), heart failure (aOR, 2.0; 95% CI, 1.1-3.3), or chronic lung disease (aOR, 1.7; 95% CI, 1.1-2.7). The likelihood of hospitalisation and death were each higher for residents who had received two or fewer vaccine doses than for those who had received three doses. CONCLUSIONS: Most characteristics that influenced the likelihood of hospitalisation or death of RACF residents with COVID-19 were non-modifiable factors linked with frailty and general health status. Having received three COVID-19 vaccine doses was associated with much lower likelihood of hospitalisation or death.


Assuntos
COVID-19 , Demência , Insuficiência Cardíaca , Idoso , Masculino , Humanos , Feminino , Pré-Escolar , Queensland , Estudos Retrospectivos , Teste para COVID-19 , Vacinas contra COVID-19 , SARS-CoV-2 , Hospitalização
2.
Ann Plast Surg ; 76(2): 155-63, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26637165

RESUMO

BACKGROUND: Autologous breast reconstruction has been shown to have fewer complications and superior outcomes. In the elderly patient population, a paucity of literature on the subject may render the surgeon reluctant to recommend or perform such a procedure. The objective of this study was to compare complications and satisfaction after abdominally based breast reconstruction in patients older than versus younger than 65 years. METHODS: A retrospective study was performed with data from 5 North American centers from 2002 to 2012. Patients who underwent autologous reconstruction were identified retrospectively, and chart review was performed. The BREAST-Q questionnaire was sent to these patients via mail. Patient variables, operative outcomes and BREASTQ results were analyzed. The Pearson χ² and analysis of variance tests were used. Given the number of analyses, a more conservative α of 0.01 was used for each comparison. RESULTS: A total of 1809 patients were included with 1751 patients younger than 65 years and 58 patients aged 65 years or older. Analysis of postoperative complications showed no significant differences between the age groups, though there was a trend toward higher seroma development (17.2% vs 8.1%; P = 0.013) and infection (19.0% vs 10.0%; P = 0.028) in the older group with statistical significance set at P less than 0.01 to account for multiple comparisons. A total of 1809 BREAST-Q surveys were sent with a response rate of 52.5%. Patient satisfaction results were equally high between the 2 age groups. CONCLUSIONS: This is the largest study to compare patients undergoing autologous breast reconstruction older than and younger than 65 years within the same cohort. Women older than 65 years represent a minority and constituted only 3% of patients in this multicenter 10-year review. We have shown that with careful patient selection, abdominally based autologous reconstruction should be considered in the elderly patient population because it is well tolerated and achieves high patient satisfaction.


Assuntos
Implante Mamário/estatística & dados numéricos , Neoplasias da Mama/cirurgia , Mamoplastia/estatística & dados numéricos , Complicações Pós-Operatórias/epidemiologia , Idoso , Implante Mamário/métodos , Neoplasias da Mama/epidemiologia , Feminino , Humanos , Pessoa de Meia-Idade , Complicações Pós-Operatórias/prevenção & controle , Medição de Risco , Transplante Autólogo , Estados Unidos
3.
Microsurgery ; 33(4): 301-4, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-23417901

RESUMO

Medical leech therapy (MLT) with Hirudo medicinalis is well established as a treatment for venous congestion of tissue flaps, grafts, and replants. Unfortunately, this treatment is associated with surgical site infections with bacterial species, most commonly Aeromonas hydrophila, which is an obligate symbiot of H. medicinalis. For this reason, prophylactic antibiotics are recommended in the setting of MLT. After culturing Aeromonashydrophila resistant to ciprofloxacin from a tissue specimen from a patient with a failed replant of three digits post-MLT, we performed environmental surveillance cultures and antibiotic susceptibility testing on water collected from leech tanks. This surveillance was performed twice weekly for 2.5 months. Fourteen surveillance cultures demonstrated 21 isolates of Aeromonas species, 71.4% of which were ciprofloxacin susceptible. All isolates were sulfamethoxazole-trimethoprim (SXT) susceptible. The prophylactic antibiotic regimen of choice for leech therapy at our institution is SXT, with culture of tank water to refine antimicrobial choice if necessary. This study demonstrates the importance of regular surveillance to detect resistant Aeromonas species in medical leeches; however optimal practice has not been established.


Assuntos
Aeromonas hydrophila/isolamento & purificação , Antibacterianos/uso terapêutico , Antibioticoprofilaxia/métodos , Infecções por Bactérias Gram-Negativas/prevenção & controle , Aplicação de Sanguessugas/métodos , Complicações Pós-Operatórias/prevenção & controle , Combinação Trimetoprima e Sulfametoxazol/uso terapêutico , Aeromonas hydrophila/efeitos dos fármacos , Amputação Traumática/cirurgia , Animais , Antibacterianos/farmacologia , Ciprofloxacina/farmacologia , Ciprofloxacina/uso terapêutico , Farmacorresistência Bacteriana , Traumatismos dos Dedos/cirurgia , Dedos/cirurgia , Infecções por Bactérias Gram-Negativas/diagnóstico , Infecções por Bactérias Gram-Negativas/etiologia , Hirudo medicinalis/microbiologia , Humanos , Controle de Infecções/métodos , Aplicação de Sanguessugas/efeitos adversos , Masculino , Testes de Sensibilidade Microbiana , Complicações Pós-Operatórias/diagnóstico , Complicações Pós-Operatórias/etiologia , Reimplante , Combinação Trimetoprima e Sulfametoxazol/farmacologia
4.
Plast Surg (Oakv) ; 29(2): 132-138, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-34026678

RESUMO

BACKGROUND: The use of appropriate preoperative antibiotic prophylaxis decreases the risk of surgical site infections (SSI); however, the breadth of plastic surgery procedures makes it challenging to ensure appropriate use for each unique procedure type. Currently, plastic surgeons lack a cohesive and comprehensive set of evidence-based guidelines (EBG) for surgical prophylaxis. We sought to profile the perioperative antibiotic prescribing patterns for plastic surgeons in British Columbia to investigate if they are congruent with published recommendations. In doing so, we aim to determine risk factors for antibiotic overprescribing in the context of surgical prophylaxis. METHODS: A literature review identifying EBG for antibiotic prophylaxis use during common plastic surgery procedures was performed. Concurrently, a provincial survey of plastic surgery residents, fellows, academic and community plastic surgeons was used to identify their antibiotic prophylaxis prescribing practices. These findings were then compared to recommendations identified from our review. The compliance of the provincial plastic surgery community with current EBG was determined for 38 surgical scenarios to identify which clinical factors and procedure types were associated with unsupported antibiotic use. RESULTS: Within the literature, 31 of the 38 categories of surveyed plastic surgery operations have EBG for use of prophylactic antibiotics. When surgical procedures have EBG, 19.5% of plastic surgery trainees and 21.9% of practicing plastic surgeons followed recommended prophylaxis use. Average adherence to EBG was 59.1% for hand procedures, 24.1% for breast procedures, and 23.9% for craniofacial procedures. Breast reconstruction procedures and contaminated craniofacial procedures were associated with a significant reduction in adherence to EBG resulting in excessive antibiotic use. CONCLUSION: Even when evidence-based recommendations for antibiotic prophylaxis exist, plastic surgeons demonstrate variable compliance based on their reported prescribing practices. Surgical procedures with low EBG compliance may reflect risk avoidant behaviors in practicing surgeons and highlight the importance of improving education on the benefits of antibiotic prophylaxis in these clinical situations.


HISTORIQUE: Une prophylaxie antibiotique préopératoire appropriée réduit le risque d'infections au foyer de l'opération (IFO), mais en raison de l'éventail des interventions de plasturgie, il est difficile d'en garantir la bonne utilisation pour chaque type d'intervention. À l'heure actuelle, les plasticiens ne possèdent pas d'ensemble de directives fondées sur des données probantes (DDP) cohésives et complètes à l'égard de la prophylaxie chirurgicale. Les chercheurs ont cherché à saisir les habitudes de prescription d'antibiotiques périopératoires des plasticiens de la Colombie-Britannique pour vérifier si elles concordent avec les recommandations publiées. Ce faisant, ils ont voulu déterminer les facteurs de risque de surprescription d'antibiotiques dans le cadre de la prophylaxie chirurgicale. MÉTHODOLOGIE: Les chercheurs ont effectué une analyse bibliographique faisant état des DDP relatives au recours à une prophylaxie antibiotique pendant des interventions de plasturgie courantes. Parallèlement, un sondage auprès des résidents, des associés, des scientifiques et des généralistes de la plasturgie a permis de déterminer les pratiques de prescription de prophylaxie antibiotique. Les chercheurs ont comparé ces observations aux recommandations relevées dans leur analyse. Ils ont établi l'adhésion du milieu provincial de la plasturgie aux DDP à jour dans 38 scénarios chirurgicaux pour déterminer les facteurs cliniques et les types d'intervention associés à l'utilisation d'antibiotiques non préconisés. RÉSULTATS: Dans les publications scientifiques, 31 des 38 catégories d'opérations de plasturgie sondées étaient assorties de DDP sur la prophylaxie antibiotique. Lorsque les interventions chirurgicales étaient ainsi associées à des DDP, 19,5% des stagiaires en plasturgie et 21,9% des plasticiens en exercice respectaient les recommandations relatives à l'utilisation de la prophylaxie. L'adhésion moyenne aux DDP s'élevait à 59,1 % dans le cas des interventions de la main, à 24,1 % dans celui des interventions mammaires et à 23,9 % dans celui des interventions craniofaciales. Les interventions de reconstruction mammaire et la contamination des interventions craniofaciales étaient liées à une diminution importante de l'adhésion aux DDP entraînant une utilisation excessive d'antibiotiques. CONCLUSION: Même en présence de recommandations fondées sur des données probantes relatives à la prophylaxie antibiotique, les pratiques de prescription déclarées par les plasticiens démontrent une adhésion variable aux DDP. Les interventions chirurgicales assorties d'une faible adhésion aux DDP pourraient refléter des comportements d'évitement risqués de la part des chirurgiens en exercice et font ressortir l'importance d'améliorer l'enseignement sur les avantages de la prophylaxie antibiotique dans ces situations cliniques.

5.
Infect Dis Health ; 26(4): 235-242, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34053907

RESUMO

BACKGROUND: Inappropriate needleless connector (NC) care is associated with device failure from catheter occlusion and patient blood stream infections (BSIs). This can be attributed to a lack of knowledge of connector designs and flushing, clamping, and syringe disconnection techniques. This study aimed to assess nurses' practice, knowledge, attitudes, and key influencers on appropriate care of NCs in an Australian facility and compare these with studies undertaken in the United States in 2011. METHODS: A cross-sectional online survey was sent via email with a SurveyMonkey® link to all nurses working in clinical areas (total population sampling approach; approximately 1500 nurses), at an Australian hospital, in 2018. The survey was anonymous and open for 6 weeks. Analysis was with R software. RESULTS: Response rate was approximately 19% (n = 283). Most (89%) of nurses stated that they clean NCs before each access. Only 25% correctly recognised the negative pressure NC, and 79% correctly identified the correct clamping and disconnection sequence. Positive pressure displacement devices were correctly identified by 44% of respondents, with 34% identifying the correct clamping and disconnecting technique. Nurses reported their behaviour was most influenced by local senior nurses. CONCLUSIONS: There remains a significant gap in nurses' knowledge of NC device types, as well as the correct clamping and syringe disconnection for both negative and positive displacement NCs. This survey reaffirms that senior nurses are the key influencers of nurses' adherence to best practice guidelines.


Assuntos
Competência Clínica , Conhecimentos, Atitudes e Prática em Saúde , Austrália , Estudos Transversais , Humanos , Inquéritos e Questionários , Estados Unidos
6.
Curr Oncol ; 28(1): 702-715, 2021 01 25.
Artigo em Inglês | MEDLINE | ID: mdl-33504079

RESUMO

Breast cancer susceptibility gene (BRCA) mutation carriers have an increased risk of breast cancer. Mitigation of this risk can be achieved via surveillance or prophylactic mastectomy with or without breast reconstruction. Those that choose surgery expect to reduce their chance of developing cancer. The purpose of this study was to determine the incidence of patients developing breast cancer prior to surgery and to identify modifiable contributing factors within the patient journey. This is a historical cohort study of all BRCA mutation carriers identified through the British Columbia Cancer Hereditary Cancer Program between 2000 and 2012. Patients were divided into two groups: surveillance (S) and prophylactic mastectomy with immediate breast reconstruction (PM/IBR). The incidence of cancer, time to PM/IBR and patient journeys were analyzed. A total of 333 women were identified. The time to surgery from mutation disclosure was a median of 31 (5.3, 75.7) months. During this period, 6% of patients developed breast cancer compared with a 14% incidence of breast cancer in patients choosing surveillance. The majority of time to surgery was attributed to the period between mutation disclosure and the decision to proceed with surgery. Strategies to facilitate decision-making as well as wait list prioritization and dedicated operative time should be targeted to this population to decrease the number of women developing an interval cancer prior to surgery.


Assuntos
Neoplasias da Mama , Mamoplastia , Mastectomia Profilática , Neoplasias da Mama/epidemiologia , Neoplasias da Mama/genética , Neoplasias da Mama/prevenção & controle , Estudos de Coortes , Feminino , Humanos , Mastectomia
7.
Am J Infect Control ; 48(9): 1013-1018, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-31928890

RESUMO

BACKGROUND: Needleless connectors (NCs) were introduced to reduce health care work needlestick injuries (NSIs). If not decontaminated prior to use, NCs can be a portal for patient blood stream infections. The optimal disinfectant, and its application duration, for NC decontamination has not been empirically established. METHODS: Factorial design randomized controlled trial comparing 70% isopropyl alcohol (IPA) and 2% chlorhexidine gluconate (CHG) in 70% IPA for 5, 10, or 15 seconds, in adult medical patients with peripheral intravenous catheters. RESULTS: At baseline, 153 of 300 NCs (51%) grew microorganisms commonly found on the skin. Decontamination was successful in 150/153 (98%). There was no significant difference in decontamination between 70% IPA or 2% CHG in 70% IPA (P = .62), or decontamination for 5, 10, or 15 seconds (P = .21). CONCLUSIONS: There was no difference in the effectiveness of 70% IPA and 2% CHG in 70% IPA for NC decontamination for peripheral intravenous catheters in the clinical environment. Successful decontamination was not different for applications of 5, 10, and 15 seconds; 15 seconds did not always remove all microorganisms. Factors such as cost, feasibility of compliance, and low risk of allergy support 5 seconds decontamination with 70% IPA as an acceptable approach.


Assuntos
Catéteres , Descontaminação , Desinfetantes , 2-Propanol , Adulto , Clorexidina , Humanos , Controle de Infecções , Pele
8.
Am J Infect Control ; 47(8): 1017-1019, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-30850248

RESUMO

Good hand hygiene and "scrub the hub" practices are important to prevent bloodstream infections. This observational study (n = 108) found high compliance with "scrubbing the hub," although scrub time was shorter than the recommended duration (average 6.1 seconds). Compliance with hand hygiene before medication preparation (33%) and before medication administration (43%) showed room for improvement compared with postadministration (65%), the emergency setting and glove use were associated with poorer compliance (P < .01).


Assuntos
Infecções Relacionadas a Cateter/prevenção & controle , Cateteres de Demora/microbiologia , Cateteres de Demora/normas , Cateteres Venosos Centrais/microbiologia , Higiene das Mãos , Adulto , Cateteres Venosos Centrais/efeitos adversos , Infecção Hospitalar/prevenção & controle , Descontaminação , Desinfecção , Contaminação de Equipamentos/prevenção & controle , Feminino , Luvas Protetoras , Humanos , Controle de Infecções , Masculino , Enfermeiras e Enfermeiros
9.
Am J Infect Control ; 46(9): 1080-1081, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-29880433

RESUMO

Allowing needleless connectors (NCs) on vascular catheters adequate drying time after cleaning with antiseptic is essential. Drying time instructions on antiseptic pads/wipes relate to skin use, not inanimate objects. Needleless connector drying times after a 15-second scrub with isopropyl-alcohol, isopropyl-alcohol/chlorhexidine, or povidone-iodine varied from 5 seconds to >6 minutes.


Assuntos
Catéteres , Descontaminação/métodos , Dessecação/métodos , Desinfecção/métodos , Desinfetantes/administração & dosagem , Humanos , Fatores de Tempo
10.
Am J Infect Control ; 45(8): 932-934, 2017 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-28330709

RESUMO

The aim of this study was to quantify culturable microorganisms on needleless connectors (NCs) attached to peripheral intravenous catheters in hospitalized adult medical patients. Half (50%) of 40 NCs were contaminated with microorganisms commonly found on the skin or mouth. Staphylococcus capitis and Staphylococcus epidermidis were most commonly isolated. Emergency department insertion and higher patient dependency were statistically associated with positive NC microorganism growth. These results reaffirm the need for NC decontamination prior to access.


Assuntos
Contaminação de Equipamentos , Bombas de Infusão/microbiologia , Staphylococcus/isolamento & purificação , Adulto , Cateteres de Demora/efeitos adversos , Hospitais , Humanos
14.
Am J Infect Control ; 36(3): 180-6, 2008 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-18371513

RESUMO

BACKGROUND: Needlestick injury (NSI) with hollow-bore needles remains a significant risk of bloodborne virus acquisition in health care workers. The impact on NSI rates after substantial replacement of conventional hollow-bore needles with the simultaneous introduction of safety-engineered devices (SEDs) including retractable syringes, needle-free intravenous (IV) systems, and safety winged butterfly needles was examined in an 800-bed Australian university hospital. METHODS: NSIs were prospectively monitored for 2 years (2005-2006) after the introduction of SEDs and compared with prospectively collected preintervention NSI data (2000-2004). RESULTS: Preintervention hollow-bore NSI rates over 10 years persisted at a constant rate between 3.01 and 3.77 per 100 full-time equivalent employees (FTE) (P = .31). Rates for 2005 (1.93; 95% CI: 1.48-2.47 per 100 FTE) and 2006 (1.50; 95% CI: 1.11-1.97 per 100 FTE) were significantly lower than the average rate for the preintervention years (3.39; 95% CI: 2.7-4.24 per 100 FTE, P = .00004). This represents a fall of 49% (43.1%-55.7%) in hollow-bore NSI, contributed to by the virtual elimination of NSI related to accessing IV lines. More importantly, high-risk injuries were also reduced 57% by retractable syringe use with an overall budgetary increase of approximately US $90,000 per annum. CONCLUSION: Introduction of SEDs results in an impressive fall in NSI with minimal cost outlay.


Assuntos
Acidentes de Trabalho/prevenção & controle , Acidentes de Trabalho/estatística & dados numéricos , Ferimentos Penetrantes Produzidos por Agulha/prevenção & controle , Acidentes de Trabalho/economia , Austrália , Segurança de Equipamentos/economia , Segurança de Equipamentos/métodos , Hospitais de Ensino , Agulhas/economia , Ferimentos Penetrantes Produzidos por Agulha/economia , Estudos Prospectivos
15.
Am J Infect Control ; 36(5): 349-55, 2008 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-18538701

RESUMO

BACKGROUND: Hand hygiene (HH) compliance by health care workers has been universally disappointing. Two major programs (Washington and Geneva) have demonstrated interventions that induce sustained improvement. The introduction of alcohol-based hand rub (AHR) together with education also has been reported to improve compliance. METHODS: These interventions were replicated concurrently for 2 years in selected wards of an 800-bed university teaching hospital, with compliance assessed only within, not between, programs. RESULTS: No significant improvement in HH compliance was observed after the introduction of AHR (incidence rate ratio [IRR] = 1.11; 95% confidence interval [CI] = 0.93 to 1.33; P = .238) or substitution of AHR for a similar product (IRR = 1.10; 95% CI = 0.91 to 1.32; P = .328) with concomitant education. The Washington program achieved a 48% (IRR = 1.48, 95% CI = 1.20 to 1.81; P < .001) improvement in compliance, sustained over 2 years. The Geneva program failed to induce a significant increase in HH compliance in 3 wards, but achieved a 56% (IRR = 1.56; 95% CI = 1.29 to 1.89; P < .001) improvement over the already high HH rate in 1 ward (infectious disease unit). CONCLUSIONS: The Washington program demonstrated effectiveness in achieving sustained improved HH compliance, whereas the effect of the Geneva program was limited in those wards without strong medical leadership. Introduction of AHR without an associated behavioral modification program proved ineffective.


Assuntos
Desinfecção das Mãos , Pessoal de Saúde/estatística & dados numéricos , Higiene , Transmissão de Doença Infecciosa do Profissional para o Paciente/prevenção & controle , Anti-Infecciosos Locais , Coleta de Dados , Fidelidade a Diretrizes , Desinfecção das Mãos/métodos , Hospitais com mais de 500 Leitos , Hospitais de Ensino , Humanos , Higiene/normas , Controle de Infecções/métodos , Transmissão de Doença Infecciosa do Profissional para o Paciente/métodos , Queensland , Reprodutibilidade dos Testes
16.
Hum Mol Genet ; 12(21): 2745-51, 2003 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-12966033

RESUMO

Spirometric measures of pulmonary function have been shown to be highly heritable and evidence for major genes influencing forced expiratory volume in 1 s (FEV1) and forced vital capacity (FVC) have been reported. A genome scan of pulmonary traits in the Framingham Heart Study identified a region on chromosome 6qter with evidence for linkage to FEV1 and the FEV1/FVC ratio. For this study, additional markers were genotyped in the region to refine the location of linkage and test for association. Variance component linkage analysis was performed using GENEHUNTER, and family-based association tests were performed using FBAT. The chromosome 6 telomeric region provided significant evidence of linkage with the additional markers, resulting in a maximum multipoint LOD score of 5.0 for FEV1 at 184.5 cM. LOD scores for FVC and the FEV1/FVC ratio were also above 1.0 in this region. Evidence for association with FEV1 and FVC was observed with D6S281 at 190 cM. The strongest effect was seen with the 224 allele, which was associated with higher levels of FEV1 and FVC in allele carriers compared with those carrying other alleles. This study supports the presence of a gene influencing pulmonary function on the q-terminus of chromosome 6 in the region of 184 cM (D6S503) to 190 cM (D6S281).


Assuntos
Cromossomos Humanos Par 6 , Ligação Genética , Pulmão/fisiologia , Capacidade Vital/fisiologia , Adulto , Alelos , Estudos de Coortes , Feminino , Volume Expiratório Forçado/fisiologia , Marcadores Genéticos/genética , Humanos , Masculino , Pessoa de Meia-Idade , Modelos Genéticos , Polimorfismo Genético , Espirometria
17.
Am J Hum Genet ; 70(5): 1089-95, 2002 May.
Artigo em Inglês | MEDLINE | ID: mdl-11920285

RESUMO

Parkinson disease (PD) is a late-onset neurodegenerative disorder. The mean age at onset is 61 years, but the disease can range from juvenile cases to cases in the 8th or 9th decade of life. The parkin gene on chromosome 6q and loci on chromosome 1p35-36 and 1p36 are responsible for some cases of autosomal recessive early-onset parkinsonism, but they do not appear to influence susceptibility or variability of age at onset for idiopathic PD. We have performed a genomewide linkage analysis using variance-component methodology to identify genes influencing age at onset of PD in a population of affected relatives (mainly affected sibling pairs) participating in the GenePD study. Four chromosomal loci showed suggestive evidence of linkage: chromosome 2p (maximum multipoint LOD [MaxLOD] = 2.08), chromosome 9q (MaxLOD = 2.00), chromosome 20 (MaxLOD = 1.82), and chromosome 21 (MaxLOD = 2.21). The 2p and 9q locations that we report here have previously been reported as loci influencing PD affection status. Association between PD age at onset and allele 174 of marker D2S1394, located on 2p13, was observed in the GenePD sample (P=.02). This 174 allele is common to the PD haplotype observed in two families that show linkage to PARK3 and have autosomal dominant PD, which suggests that this allele may be in linkage disequilibrium with a mutation influencing PD susceptibility or age at onset of PD.


Assuntos
Mapeamento Cromossômico , Cromossomos Humanos/genética , Genoma Humano , Doença de Parkinson/epidemiologia , Doença de Parkinson/genética , Adulto , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Alelos , Cromossomos Humanos Par 2/genética , Haplótipos/genética , Humanos , Desequilíbrio de Ligação/genética , Escore Lod , Pessoa de Meia-Idade , Núcleo Familiar
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