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1.
Med J (Ft Sam Houst Tex) ; (Per 23-1/2/3): 97-102, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36607306

RESUMO

INTRODUCTION: Airway obstruction is the second leading cause of potentially survivable death on the battlefield. The Committee on Tactical Combat Casualty Care (CoTCCC) has evolving recommendations for the optimal supraglottic airway (SGA) device for inclusion to the medics' aid bag. METHODS: We convened an expert consensus panel consisting of a mix of 8 prehospital specialists, emergency medicine experts, and experienced combat medics, with the intent to offer recommendations for optimal SGA selection. Prior to meeting, we independently reviewed previously published studies conducted by our study team, conducted a virtual meeting, and summarized the findings to the panel. The studies included an analysis of end-user after action reviews, a market analysis, engineering testing, and prospective feedback from combat medics. The panel members then made recommendations regarding their top 3 choices of devices including the options of military custom design. Simple descriptive statistics were used to analyze panel recommendations. RESULTS: The preponderance (7/8, 88%) of panel members recommended the gel-cuffed SGA, followed by the self-inflating-cuff SGA (5/8, 62%) and laryngeal tube SGA (5/8, 62%). Panel members expressed concerns primarily related to the (1) devices' tolerance for the military environment, and (2) ability to effectively secure the gel-cuffed SGA and the self-inflating-cuff SGA during transport. CONCLUSIONS: A preponderance of panel members selected the gel-cuff SGA with substantial feedback highlighting the need for military-specific customizations to support the combat environment needs.


Assuntos
Obstrução das Vias Respiratórias , Medicina Militar , Militares , Humanos , Consenso , Estudos Prospectivos
2.
Chirurg ; 92(1): 40-48, 2021 Jan.
Artigo em Alemão | MEDLINE | ID: mdl-32430544

RESUMO

BACKGROUND: Many studies showed that hospital and surgeon volume have a significant influence on the complication rates of thyroid surgery. The present study investigates whether this relationship applies in subtotal as well as total lobe resections. Furthermore, it is still unclear which threshold for the hospital-related case volume can be determined, above which the risk of complications lies below the current national average. MATERIAL AND METHODS: The study was based on nationwide routine data for persons insured with the Local General Sickness Fund (AOK) who had undergone thyroid surgery in 2014-2016. Permanent vocal cord palsy, bleeding and wound infection needing revision were recorded using indicators. The effect of the case volume on the indicators and the case number threshold was determined using logistic regression. RESULTS: Permanent vocal cord palsy was observed in 1.3% and bleeding or wound infections needing revision in 1.6% and 0.3% of the cases. Compared to hospitals with >450 surgeries per year, the risk of permanent vocal cord palsy in hospitals with fewer than 201, 101 and 51 surgeries was significantly increased (OR [95% CI]: 1.5 [1.1-2.1]; 1.5 [1.1-2.1]; 1.8 [1.3-2.5]). The threshold needed to achieve a risk for permanent vocal cord palsy below the national average (1.3%) was 265 thyroid surgeries per year (95% CI: 110-420). For bleeding or wound infection in need of revision, no association between volume and outcome was found. CONCLUSION: The present study showed that the risk of postoperative permanent vocal cord palsy decreased with increasing case volume. The broad confidence interval of the threshold makes clear case volume recommendation difficult. In order that the risk for a postoperative permanent vocal cord palsy is not likely above the national average, the annual case volume should reach 110 thyroid interventions.


Assuntos
Glândula Tireoide , Paralisia das Pregas Vocais , Alemanha , Humanos , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Glândula Tireoide/cirurgia , Tireoidectomia , Paralisia das Pregas Vocais/epidemiologia , Paralisia das Pregas Vocais/etiologia
3.
Hernia ; 24(4): 747-757, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-31786700

RESUMO

INTRODUCTION: Inguinal hernias are repaired using either open or minimally invasive surgical techniques. For both types of surgery it has been demonstrated that a higher annual surgeon volume is associated with a lower risk of recurrence. This present study investigated the volume-outcome implications for recurrence operations, surgical complications, rate of chronic pain requiring treatment, and 30-day mortality based on the hospital volume. MATERIALS AND METHODS: The data basis used was the routine data collected throughout the Federal Republic of Germany for persons insured by the Local General Sickness Fund "AOK" who had undergone inpatient inguinal hernia repair between 2013 and 2015. Complications were recorded by means of indicators. Hospitals were divided into five groups on the basis of the annual caseload volume: 1-50, 51-75, 76-100, 101-125, and ≥ 126 inguinal hernia repairs per year. The effect of the hospital volume on the indicators was assessed using multiple logistic regression. RESULTS: 133,449 inguinal hernia repairs were included. The incidence for recurrence operations was 0.95%, for surgical complications 4.22%, for chronic pain requiring treatment 2.87%, and for the 30-day mortality 0.28%. Low volume hospitals (1-50 and 51-75 inguinal hernia repairs per year) showed a significantly increased recurrence risk compared to high volume hospitals with ≥ 126 inguinal hernia repairs per year (odds ratio: 1.53 and 1.24). No significant correlations were found for the other results. CONCLUSIONS: The study gives a detailed picture of hospital care for inguinal hernia repair in Germany. Furthermore, it was noted that the risk of hernia recurrence decreases in line with a rising caseload of the treating hospital.


Assuntos
Hérnia Inguinal/cirurgia , Herniorrafia/estatística & dados numéricos , Hospitais com Alto Volume de Atendimentos/estatística & dados numéricos , Hospitais com Baixo Volume de Atendimentos/estatística & dados numéricos , Idoso , Feminino , Alemanha , Humanos , Masculino , Pessoa de Meia-Idade , Recidiva , Cirurgiões , Resultado do Tratamento
4.
Chirurg ; 90(3): 223-230, 2019 Mar.
Artigo em Alemão | MEDLINE | ID: mdl-30006744

RESUMO

BACKGROUND: This study investigated the frequency of postoperative speech therapy in the context of vocal cord palsy after thyroid surgery based on nationwide routine data. Additionally, volume-outcome relationships were examined. MATERIAL AND METHODS: Nationwide routine data from insured patients of the Local Health Insurance Fund (AOK) who underwent thyroid surgery for a benign thyroid disease between 2013 and 2015 were analyzed. Postoperative speech therapy was determined based on prescription data. Transient and permanent vocal cord palsy were determined using indicators. The effect of hospital volumes (volume quintiles) on prescription of postoperative speech therapy was determined by multivariate logistic regression. RESULTS: A total of 50,676 thyroid gland operations were identified. The overall frequency of postoperative speech therapy prescription was 6.5%. In AOK patients with transient or permanent vocal cord palsy, the frequencies of postoperative speech therapy prescription were 56.1% and 75.2%, respectively. The prescription volume of the normal case (≥21 units of speech therapy) was exceeded in 0.7% of the AOK patients. In the two lowest case volume categories the risk of postoperative speech therapy exceeding the prescription volume of the normal case was significantly higher compared to the highest case volume hospitals (odds ratios: 1.2 and 1.8, respectively). CONCLUSION: This study presents the reality of healthcare with respect to the frequency of speech therapy prescription after thyroid gland surgery in Germany. In addition, it was determined that the risk of postoperative speech therapy prescription exceeding the volume of the normal case after thyroid gland operations decreases with increasing case volumes of hospitals.


Assuntos
Fonoterapia , Doenças da Glândula Tireoide , Paralisia das Pregas Vocais , Alemanha , Humanos , Complicações Pós-Operatórias , Doenças da Glândula Tireoide/cirurgia , Tireoidectomia
5.
Narrat Inq Bioeth ; 8(1): 97-101, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29657190

RESUMO

This symposium includes six personal narratives about military veterans' experiences receiving health care through the Military Health System or the Veterans' Health Administration. Five of the narratives were autobiographical accounts of men's personal experience of care and one of the accounts was written by a wife who watched her husband suffer with chronic pain after leaving the military. There is a good deal of literature in military and veteran's medical research pertaining to psychological and physical trauma rehabilitation; however, there is little reflection on what it is like for injured military personnel or veterans to overcome obstacles while in pain and attempting interface with these governmental health care systems. This symposium provides a closer look at the difficulties faced as these six men attempt to fight for personalized care in a collective heath care system.


Assuntos
Dor Crônica , Acessibilidade aos Serviços de Saúde , Militares , Narração , Transtornos de Estresse Pós-Traumáticos , Veteranos , Humanos , Masculino , Trauma Psicológico , Cônjuges , Estresse Psicológico , Estados Unidos , United States Department of Veterans Affairs , Ferimentos e Lesões
7.
Chirurg ; 88(1): 50-57, 2017 Jan.
Artigo em Alemão | MEDLINE | ID: mdl-27510155

RESUMO

BACKGROUND: Routine data from hospitals in the public healthcare system allow the analysis of large patient datasets without generating additional documentation efforts for hospitals. This study reports the frequencies of postoperative complications after thyroid surgery based on routine nationwide data. Moreover, volume-outcome relationships were investigated. MATERIAL AND METHODS: Nationwide routine data from insured patients of the Local Health Insurance Fund (AOK) who underwent thyroid surgery between 2008 and 2010 were analyzed. Complications were determined based on indicators for permanent vocal cord palsy, re-bleeding with re-operations and wound infections with specific treatment. The effect of hospital volumes (volume quintiles) on the indicators was determined by multivariate logistic regression. RESULTS: A total of 66,902 thyroid gland operations were identified. The overall frequency of permanent vocal cord palsy was 1.5 %, re-bleeding 1.8 % and wound infections 0.4 %. In the four lowest case volume categories the risk of permanent vocal cord palsy was significantly higher compared to the highest case volume hospitals (odds ratio 1.5, 1.7, 1.7 and 2.2, respectively). CONCLUSION: This study represents the reality of healthcare for thyroid surgery in Germany. Additionally, it was determined that the risk for permanent vocal cord palsy after thyroid gland operations decreased with increasing case volumes of hospitals.


Assuntos
Interpretação Estatística de Dados , Hospitais com Alto Volume de Atendimentos/estatística & dados numéricos , Hospitais com Baixo Volume de Atendimentos/estatística & dados numéricos , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Doenças da Glândula Tireoide/epidemiologia , Doenças da Glândula Tireoide/cirurgia , Tireoidectomia/efeitos adversos , Tireoidectomia/estatística & dados numéricos , Adulto , Idoso , Feminino , Alemanha , Humanos , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Razão de Chances , Hemorragia Pós-Operatória/epidemiologia , Hemorragia Pós-Operatória/etiologia , Hemorragia Pós-Operatória/cirurgia , Reoperação/estatística & dados numéricos , Infecção da Ferida Cirúrgica/epidemiologia , Infecção da Ferida Cirúrgica/etiologia , Infecção da Ferida Cirúrgica/cirurgia , Paralisia das Pregas Vocais/epidemiologia , Paralisia das Pregas Vocais/etiologia , Paralisia das Pregas Vocais/cirurgia
8.
Prostate Cancer Prostatic Dis ; 19(4): 406-411, 2016 12.
Artigo em Inglês | MEDLINE | ID: mdl-27502738

RESUMO

BACKGROUND: Little real-world data is available on the comparison of different methods in surgery for lower urinary tract symptoms due to benign prostatic obstruction in terms of complications. The objective was to evaluate the proportions of TURP, open prostatectomy (OP) and laser-based surgical approaches over time and to analyse the effect of approach on complication rates. METHODS: Using data of the German local healthcare funds (Allgemeine Ortskrankenkassen (AOK)), we identified 95 577 cases with a primary diagnosis of hyperplasia of prostate who received TURP, laser vaporisation (LVP), laser enucleation (LEP) of the prostate or OP between 2008 and 2013. Univariable logistic regression was used to analyse proportions of surgical approach over time, and the effect of surgical method on outcomes was analysed by means of multivariable logistic regression. RESULTS: The proportion of TURP decreased from 83.4% in 2008 to 78.7% in 2013 (P<0.001). Relative to TURP and adjusting for age, co-morbidities, AOK hospital volume, year of surgery and antithrombotic medication, OP had increased mortality (odds ratio (OR) 1.47, P<0.05), transfusions (OR 5.20, P<0.001) and adverse events (OR 2.17, P<0.001), and lower re-interventions for bleeding (OR 0.75, P<0.001) and long-term re-interventions (OR 0.55, P<0.001). LVP carried a lower risk of transfusions (OR 0.57, P<0.001) and re-interventions for bleeding (OR 0.76, P<0.001), but a higher risk of long-term re-interventions (OR 1.43, P<0.001). LEP had increased re-interventions for bleeding (OR 1.35, P<0.01). Complications were also dependent on age and co-morbidity. Limitations include the lack of clinical information and functional results. CONCLUSIONS: OP has the greatest risks of complication despite a low re-intervention rate. LVP demonstrated favourable results for transfusion and bleeding, but increased long-term re-interventions compared with TURP, while LEP showed increased re-interventions for bleeding. Findings support a careful indication and choice of method for surgery for LUTS, taking age and co-morbidities into account.


Assuntos
Sintomas do Trato Urinário Inferior/mortalidade , Sintomas do Trato Urinário Inferior/cirurgia , Idoso , Bases de Dados Factuais , Alemanha , Humanos , Seguro Saúde , Terapia a Laser/métodos , Masculino , Próstata/cirurgia , Prostatectomia/métodos , Hiperplasia Prostática/etiologia , Neoplasias da Próstata/cirurgia , Ressecção Transuretral da Próstata/métodos , Resultado do Tratamento
9.
Annu Rev Nurs Res ; 34: 1-14, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26673373

RESUMO

Over the past 30 years, the health-care context as well as the roles and responsibilities of nurses have drastically changed. Leaders in nursing around the world recognize that the health-care system is stressed and the well-being of the nursing workforce plagued by the pressures and challenges it faces in everyday practice. We do not intend to make a strong normative argument for why nursing ethics education should be done in a certain way, but instead show from where we have come and to where we can go, so that educators are positioned to address some of the current shortcomings in ethics education. Our goal is to provide an illustration of ethics education as an interwoven, ongoing, and essential aspect of nursing education and professional development. By developing professional identity as character, we hope that professional nurses are given the skills to stand in the face of adversity and to act in a way that upholds the core competencies of nursing. Ultimately, health-care organizations will thrive because of the support they provide nurses and other health-care professionals.


Assuntos
Educação em Enfermagem , Ética em Enfermagem/educação , Códigos de Ética , Atenção à Saúde , Humanos , Competência Profissional
10.
Annu Rev Nurs Res ; 34: 199-226, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26673383

RESUMO

In 2014, the Institute of Medicine published a meta-analysis on current military reintegration programs, suggesting they have failed to improve postdeployment behavioral health. In this chapter, I explore some of the issues associated with the two paradigm reintegration programs supported by the Department of Defense (DoD), namely, BATTLEMIND postdeployment debriefings and Master Resilience Training. My discussion will be located within a subpopulation of military personnel I call warriors, particularly those men who have been exposed to combat. In performing a normative analysis of current reintegration programs, I rely on an ethics of embodied personal presence as a derivative focus of both nursing ethics and the just war tradition. Using an interdisciplinary approach to evaluate warriors' experiences of training across the military life cycle illustrates how reintegration challenges have been construed as potential pathology because disembodied reintegration programs do not consider the influence of military training and lifestyle in the development of certain health behaviors. When compared to the warrior's lived experience, a broader set of reintegration challenges emerge that cannot be fully captured by the symptoms of posttraumatic stress. Therefore, new reintegration programs need to be developed. Although I do not provide explicit details concerning what these reintegration programs should look at, I suggest that the DoD turn to something akin to the Healthy People campaign.


Assuntos
Sintomas Comportamentais/psicologia , Ética em Enfermagem , Medicina Militar/ética , Enfermagem Militar/ética , Militares/psicologia , Ajustamento Social , Adaptação Psicológica , Adulto , Feminino , Humanos , Consentimento Livre e Esclarecido , Entrevistas como Assunto , Masculino , Pesquisa Qualitativa , Apoio Social
11.
Dtsch Med Wochenschr ; 138(12): 570-5, 2013 Mar.
Artigo em Alemão | MEDLINE | ID: mdl-23483416

RESUMO

BACKGROUND: Data on 1-year complication and follow-up intervention rates after coronary angiography (CA) and percutaneous coronary intervention (PCI) in German clinical routine are sparse. This analysis aims to determine these rates. METHODS: The analysis uses 2009 AOK claims data. Patients were divided into 3 groups (CA, without cardiac surgery and without acute myocardial infarction (AMI) n=116.071; PCI with stenting, without AMI: n=36.685; PCI with stenting and with AMI: n=32.707). The frequency of the endpoints MACCE (mortality, AMI, stroke, TIA), CABG, PCI and CA was recorded for up to one year. RESULTS: 1-year MACCE rates were 8.1 % (CA), 9.9 % (PCI without AMI) and 17.9 % (PCI with AMI). Quality-relevant follow-up intervention rates in the CA group were 2.5 % for CABG (after 31-365 days), 1.7 % for PCI within 90 days and 3.5 % for follow-up CA within 1 year. In the PCI groups, the frequencies were 1.6 % (without AMI) and 2.7 % (with AMI) for CABG (after 31-365 days), and 10.2 % (without AMI) and 10.1 % (with AMI) for PCI after 91-365 days. CONCLUSION: This is the first cross-sectoral routine analysis of cardiac catheters and sequential events up to one year in Germany. The actual medical care situation revealed information particularly with regard to the second and follow-up inventions, which cannot be derived directly from medical guidelines. Beyond clinical trials, knowledge can be gained which is important both for medicine as well as the politics of health services.


Assuntos
Angiografia Coronária/efeitos adversos , Doença das Coronárias/diagnóstico , Doença das Coronárias/terapia , Intervenção Coronária Percutânea/efeitos adversos , Idoso , Causas de Morte , Angiografia Coronária/mortalidade , Doença das Coronárias/mortalidade , Feminino , Seguimentos , Alemanha , Humanos , Masculino , Pessoa de Meia-Idade , Infarto do Miocárdio/mortalidade , Intervenção Coronária Percutânea/mortalidade , Recidiva , Retratamento , Fatores de Risco , Acidente Vascular Cerebral/mortalidade , Taxa de Sobrevida
12.
Gesundheitswesen ; 75(5): 288-95, 2013 May.
Artigo em Alemão | MEDLINE | ID: mdl-23184453

RESUMO

AIM: This study analyses the information gain achieved by additionally taking into account complications in the follow-up period instead of merely considering in-house events for a hospital-based quality measurement using the example of hip replacement. METHOD: The analysis was performed with anonymous statutory health insurance data (AOK) for the years 2007-2009 within the framework of the quality measurement method "Quality Assurance with Administrative Data (QSR)". It included cases of hip replacement surgery due to osteoarthritis. In order to analyse hospital-related outcome quality, 6 quality indicators were formed (revision surgery within 365 days, surgical complications within 90 days, thrombosis/pulmonary embolism within 90 days, femur fracture within 90 days, mortality within 90 days and complication index). For each hospital, the adjusted SMRs (standardised mortality or morbidity ratio) with 95% confidence intervals were calculated. The relation between the in-hospital and the follow-up SMR was analysed by Spearman's rank correlation coefficient. Furthermore, the percentage consistency of hospital SMRs categorised into quartiles on the basis of in-hospital and post-discharge events was determined. RESULTS: A total of 154 470 AOK patients from 930 hospitals were included in the analysis. The hospitals had a median overall complication rate of 11,22%. One quarter of the hospitals had complication rates of 8,18% or below. Another quarter of the hospitals had complication rates nearly twice as high (≥15,49%). Nearly one-third of all complications occurred after the initial hospitalisation. Regarding clinic-related complications, there was little correlation between the events in the initial case and during follow-up (r<0,3) for all indicators. The order of the hospitals defined by quartiles of SMR changed significantly by adding the complications in the follow-up for the indicators considered (min 21%, max 47% changes between quartiles). In particular, for the indicators revision and death, a change in the SMR quartile occurred in almost 50% of all hospitals. CONCLUSION: Quality assessment of hip replacement surgery based exclusively on in-house events is quite unreliable. On the one hand, nearly a third of all complications occur in the follow-up period. On the other hand, predicting the occurrence of post-discharge events from in-house complications of a clinic is not considered acceptable for the indicators analysed in this study.


Assuntos
Artroplastia de Quadril/mortalidade , Hospitalização/estatística & dados numéricos , Instabilidade Articular/mortalidade , Instabilidade Articular/cirurgia , Alta do Paciente/estatística & dados numéricos , Complicações Pós-Operatórias/mortalidade , Garantia da Qualidade dos Cuidados de Saúde/estatística & dados numéricos , Adulto , Idoso , Idoso de 80 Anos ou mais , Comorbidade , Feminino , Alemanha/epidemiologia , Mortalidade Hospitalar , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Garantia da Qualidade dos Cuidados de Saúde/métodos , Fatores de Risco , Análise de Sobrevida , Taxa de Sobrevida
13.
J Obstet Gynaecol ; 32(4): 342-6, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22519477

RESUMO

The present survey aims to identify predictors associated with the use of epidural analgesia (EA). Therefore, from October 2007 to June 2008, a survey was conducted in 193 pregnant women (mean age 31.7 years (SD 4.9); 64.8% primipara) attending a German general hospital with a specialisation in integrative medicine. Questionnaires, including Antonovsky's sense of coherence (SOC) were delivered antepartum. Delivery data were recorded within the hospital quality management programme. The adjusted odds ratio (OR) for EA use was significantly greater than one for women who had previously used EA (adjusted OR =4.1; CI: 1.03-16.31) and for the desire for a delivery without pain (adjusted OR =3.05; CI: 1.36-6.83). The likelihood of EA use decreased in multipara (adjusted OR =0.05; CI: 0.01-0.22). SOC was not found to be an independent predictor for EA use. However, women with high SOC more often preferred a delivery without EA (p for trend =0.037). In conclusion, first time labour, the desire for a delivery without pain and previous use of EA are independent predictors for the use of EA in labour. Further studies should clarify the predictive role of SOC in pregnancy.


Assuntos
Analgesia Epidural/estatística & dados numéricos , Parto Obstétrico/métodos , Dor do Parto/terapia , Adulto , Feminino , Alemanha , Humanos , Modelos Logísticos , Pessoa de Meia-Idade , Razão de Chances , Paridade , Gravidez , Senso de Coerência , Inquéritos e Questionários , Adulto Jovem
14.
Artigo em Inglês | MEDLINE | ID: mdl-22315630

RESUMO

Background. Anthroposophic medicine is one of the widely used approaches of complementary and alternative medicine. However, few prospective studies have generated safety data on its use. Objectives. We aimed to assess adverse drug reactions (ADRs) caused by anthroposophical medicines (AMEDs) in the anthroposophical Community Hospital Havelhoehe, GERMANY. Study Design and Methods. Between May and November 2007, patients of six medical wards were prospectively assessed for ADRs. Suspected ADRs occurring during hospitalization were documented and classified in terms of organ manifestation (WHO SOC-code), causality (according to the Uppsala Monitoring Centre WHO criteria), and severity. Only those ADRs with a severity of grade 2 and higher according to the CTCAE classification system are described here. Results. Of the 3,813 patients hospitalized, 174 patients (4.6%) experienced 211 ADRs (CTCAE grade 2/3 n = 191, 90.5%, CTCAE grade 4/5 n = 20, 9.5%) of which 57 ADRs (27.0%) were serious. The median age of patients with ADRs (62.1% females) was 72.0 (IQR: 61.0; 80.0). Six patients (0.2%) experienced six ADRs (2.8% of ADRs) caused by eight suspected AMEDs, all of which were mild reactions (grade 2). Conclusion. Our data show that ADRs caused by AMEDs occur rarely and are limited to mild symptoms.

15.
Hypertension ; 35(2): 555-60, 2000 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-10679497

RESUMO

Genetic variability, which influences cardiovascular phenotypes in normal persons, is likely to be relevant to cardiovascular disease. We studied normal monozygotic and dizygotic twins and found strong genetic influences on blood pressure and heart size. We then relied on the dizygotic twins and their parents to apply molecular genetic techniques. We performed a linkage analysis with markers close to the beta-2 adrenergic receptor (AR) gene locus in the dizygotic twins and their parents and found strong evidence for linkage to the quantitative traits of blood pressure and heart size. We then used allele-specific polymerase chain reaction to genotype the subjects further. We performed an association analysis and found that 4 functionally relevant polymorphisms in the beta-2 AR gene, namely Arg16/Gly, Gln27/Glu, Thr164/Ile, and a variant in the promoter region (-47C/T), were variably associated with blood pressure and heart size differences but were in linkage dysequilibrium with each other. A subsequent conditional analysis suggested that the Arg16/Gly polymorphism exerted the predominant effect. These findings underscore the importance of the beta-2 AR gene to blood pressure regulation, heart size, and probably to the development of hypertension. We suggest that a combined linkage and association approach will elucidate the genetic variability influencing blood pressure and other cardiovascular phenotypes.


Assuntos
Pressão Sanguínea/fisiologia , Coração/anatomia & histologia , Receptores Adrenérgicos beta 2/genética , Adolescente , Adulto , Alelos , Análise de Variância , Pressão Sanguínea/genética , Diástole , Feminino , Frequência do Gene , Variação Genética , Genótipo , Humanos , Masculino , Fenótipo , Reação em Cadeia da Polimerase , Polimorfismo Genético , Sístole , Gêmeos Dizigóticos/genética , Gêmeos Dizigóticos/estatística & dados numéricos , Gêmeos Monozigóticos/genética , Gêmeos Monozigóticos/estatística & dados numéricos
16.
Am J Hum Genet ; 66(1): 157-66, 2000 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-10631147

RESUMO

A cholesterol-lowering gene has been postulated from familial hypercholesterolemia (FH) families having heterozygous persons with normal LDL levels and homozygous individuals with LDL levels similar to those in persons with heterozygous FH. We studied such a family with FH that also had members without FH and with lower-than-normal LDL levels. We performed linkage analyses and identified a locus at 13q, defined by markers D13S156 and D13S158. FASTLINK and GENEHUNTER yielded LOD scores >5 and >4, respectively, whereas an affected-sib-pair analysis gave a peak multipoint LOD score of 4.8, corresponding to a P value of 1.26x10-6. A multipoint quantitative-trait-locus (QTL) linkage analysis with maximum-likelihood binomial QTL verified this locus as a QTL for LDL levels. To test the relevance of this QTL in an independent normal population, we studied MZ and DZ twin subjects. An MZ-DZ comparison confirmed genetic variance with regard to lipid concentrations. We then performed an identity-by-descent linkage analysis on the DZ twins, with markers at the 13q locus. We found strong evidence for linkage at this locus with LDL (P<.0002), HDL (P<.004), total cholesterol (P<.0002), and body-mass index (P<.0001). These data provide support for the existence of a new gene influencing lipid concentrations in humans.


Assuntos
Colesterol/genética , Cromossomos Humanos Par 13/genética , Hiperlipoproteinemia Tipo II/genética , Adulto , Fatores Etários , Apolipoproteínas B/genética , Apolipoproteínas E/genética , Criança , Pré-Escolar , Colesterol/sangue , Mapeamento Cromossômico , Feminino , Humanos , Hiperlipoproteinemia Tipo II/sangue , Lipoproteínas HDL/sangue , Lipoproteínas LDL/sangue , Escore Lod , Masculino , Repetições de Microssatélites , Pessoa de Meia-Idade , Linhagem , Característica Quantitativa Herdável , Fatores Sexuais
17.
Ann Intern Med ; 129(3): 204-8, 1998 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-9696728

RESUMO

BACKGROUND: Rare, monogenic forms of hypertension may give insight into novel mechanisms relevant to essential hypertension. Autosomal dominant hypertension with brachydactyly has been documented in a single Turkish kindred; the gene was mapped to chromosome 12p. OBJECTIVE: To describe the molecular genetics of additional families with autosomal dominant hypertension and brachydactyly. DESIGN: Case series. SETTING: Tertiary care medical centers. PATIENTS: An 11-member Canadian family and a 7-member U.S. family, neither of Turkish background, with autosomal dominant hypertension and type E brachydactyly. MEASUREMENTS: Clinical evaluation, genotyping, and haplotype analyses. RESULTS: The mode of inheritance, the type E brachydactyly, and the propensity for stroke were consistent with autosomal dominant hypertension with brachydactyly. The same markers on chromosome 12p cosegregated with the phenotype in the families. A haplotype analysis strongly supported the conclusion that these families have a molecular defect in the same gene. CONCLUSIONS: The syndrome of autosomal dominant hypertension and brachydactyly is not confined to patients of Turkish origin. All persons with brachydactyly should have their blood pressure measured, and the syndrome should be considered if hypertension is found.


Assuntos
Cromossomos Humanos Par 12/genética , Nanismo/genética , Dedos/anormalidades , Genes Dominantes , Hipertensão/genética , Dedos do Pé/anormalidades , DNA Satélite , Genótipo , Humanos , Linhagem , Síndrome
18.
Am J Cardiol ; 81(6): 755-60, 1998 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-9527087

RESUMO

Decreased heart rate variability (HRV) is associated with congestive heart failure, post-myocardial infarction, ventricular arrhythmias, sudden cardiac death, and advancing age. A deletion/insertion polymorphism in the angiotensin-converting enzyme (ACE) gene and a substitution (M235T) in the angiotensinogen gene have been associated with risk for heart disease. The aim of this study was to determine the heritability of HRV and related parameters in monozygotic and dizygotic twins and to assess the influence of ACE and angiotensinogen polymorphisms. We studied 95 MZ pairs and 46 DZ pairs. We measured HRV and related parameters, ACE and angiotensinogen levels, plasma norepinephrine, ACE, and angiotensinogen genotypes. We found that HRV and related parameters were significantly influenced by genetic variability, although nonshared genetic effects were also important. Angiotensinogen and plasma norepinephrine were generally correlated with decreased HRV, whereas ACE was correlated with perturbances of normal rhythmic HRV. Nevertheless, the DD ACE genotype was associated with increased HRV (p <0.05), whereas angiotensinogen polymorphisms had no effect. We conclude that HRV and related parameters are in part heritable. Interestingly, the DD ACE genotype is associated with increased HRV.


Assuntos
Angiotensinogênio/genética , Frequência Cardíaca , Peptidil Dipeptidase A/genética , Polimorfismo Genético , Gêmeos/genética , Adulto , Feminino , Genótipo , Alemanha , Humanos , Masculino , Pessoa de Meia-Idade , População Branca/genética
20.
Hypertension ; 28(6): 1085-92, 1996 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-8952601

RESUMO

We examined a Turkish kindred with a unique form of autosomal dominant hypertension that cosegregates 100% with brachydactyly and maps to chromosome 12p. Affected adults were 10 to 15 cm shorter than unaffected people; however, their body mass index (27 kg/m2) was not different. Blood pressure increased steeply with age in the affected people so that by age 40 years, they had a mean blood pressure of 140 mm Hg, compared with 92 mm Hg in unaffected individuals. Complete clinical, roentgenographic, and laboratory evaluation was performed in 6 subjects, including 24-hour blood pressure measurements and humoral determinations before and after volume expansion with 2 L normal saline over 4 hours followed by volume contraction on the following day with a 20-mmol sodium diet and 40 mg furosemide at 8 AM, noon, and 4 PM. Two affected men aged 46 and 31 years; 3 affected women aged 40, 31, and 30 years; and 1 unaffected man aged 29 years were studied. Systolic pressures ranged from 170 to 250 mm Hg, and diastolic pressures ranged from 100 to 150 mm Hg in affected people; the unaffected man had a blood pressure of 120/70 mm Hg. Thyroid, adrenal, and renal functions were normal; electrolyte and acid-base statuses were normal. Calcium and phosphate homeostasis was normal. Day-night circadian blood pressure rhythm was preserved. The subjects were not salt sensitive; renin, aldosterone, and catecholamine values reacted appropriately to volume expansion and contraction. Affected people had mild cardiac hypertrophy and increased radial artery wall thickness. Fibroblasts from affected people grew more rapidly in culture than from unaffected people. We conclude that this novel form of inherited hypertension resembles essential hypertension.


Assuntos
Dedos/anormalidades , Hemodinâmica/genética , Hipertensão/sangue , Hipertensão/genética , Adulto , Estatura , Catecolaminas/sangue , Aberrações Cromossômicas , Transtornos Cromossômicos , Cromossomos Humanos Par 12 , Feminino , Dedos/diagnóstico por imagem , Humanos , Masculino , Pessoa de Meia-Idade , Substitutos do Plasma/farmacologia , Radiografia , Renina/sangue , Turquia
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