Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 25
Filtrar
Mais filtros

Base de dados
País/Região como assunto
Tipo de documento
Intervalo de ano de publicação
1.
J Emerg Med ; 63(1): 10-16, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-35933264

RESUMO

BACKGROUND: Antibiotics are not recommended in healthy, uncomplicated adults for the treatment of acute bronchitis, yet are still often prescribed. No randomized studies have examined whether prescribing antibiotics in the emergency department (ED) impacts hospital return rates. OBJECTIVE: Our aim was to compare hospital return rates between those who were prescribed an antibiotic vs. those who were not prescribed an antibiotic for the treatment of acute bronchitis. METHODS: A retrospective cohort study was completed evaluating patients aged 18-64 years who presented to a community teaching hospital ED with acute bronchitis between January 2017 and December 2019. The primary outcomes were 30-day ED return and hospital admissions from initial ED visit. The rates of ED return or readmitted were compared for patients prescribed an antibiotic for treatment of acute bronchitis vs. those patients who were not prescribed an antibiotic. RESULTS: Of the 752 patients included, 311 (41%) were prescribed antibiotics. Baseline demographics were similar between both groups. Of those prescribed an antibiotic, 26 of 311 (8.4%) returned to the hospital within 30 days compared with 33 of 441 patients (7.5%) who were not prescribed an antibiotic (odds ratio 1.13; 95% confidence interval 0.66-1.92). CONCLUSIONS: There was no association found between antibiotic therapy for treatment of acute bronchitis and return to the hospital.


Assuntos
Bronquite , Doença Aguda , Adulto , Antibacterianos/uso terapêutico , Bronquite/tratamento farmacológico , Serviço Hospitalar de Emergência , Humanos , Estudos Retrospectivos
2.
J Homosex ; 53(4): 71-87, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-18689192

RESUMO

This paper reviews current research that has primarily focused on domestic violence among same-gender couples. Several key issues pertaining to the identification, assessment, and treatment of domestic violence among same-gender couples are examined and outlined to assist clinicians in effectively working with gay and lesbian clients who may be experiencing domestic violence. Resource information is included to help mental health clinicians recognize specific stressors of marginalized individuals as well as assessment and treatment recommendations are made.


Assuntos
Características da Família , Homossexualidade Feminina/psicologia , Homossexualidade Masculina/psicologia , Maus-Tratos Conjugais/psicologia , Feminino , Humanos , Masculino , Serviços de Saúde Mental
3.
Artigo em Inglês | MEDLINE | ID: mdl-16555772

RESUMO

One key parameter in using electroactive materials to harvest electric energy from mechanical sources is the energy conversion efficiency. Recently, it was shown that, in the relaxor ferroelectric PMN-PT single crystals, a very high longitudinal electromechanical coupling factor (>90%) can be obtained. This paper investigates energy harvesting using 1-3 composites of PMN-PT single crystals in a soft epoxy matrix. It is shown that 1-3 composites enable the single crystals operating in the longitudinal mode to achieve high efficiency for energy harvesting, and the soft-polymer, matrix-supported single-crystal rods maintain high mechanical integrity under different external loads. For comparison, 1-3 composites with piezoceramic PZT also are investigated in energy-harvesting applications, and the results show that the high coupling factor of single crystal PMN-PT 1-3 composites leads to much higher electric energy output for similar mechanical energy input. The harvested energy density of 1-3 composite with single crystal (22.1 mW/cm3 under a stress of 40.4 MPa) is about twice of that harvested with PZT ceramic 1-3 composite (12 mW/cm3 under a stress of 39 MPa). At a higher stress level, the harvested-energy density of 1-3 PMN-PT single crystal composite can reach 96 mW/cm3.

4.
Artigo em Inglês | MEDLINE | ID: mdl-16463508

RESUMO

The recent development of electrostrictive polymers has generated new opportunities for high-strain actuators. At the current time, the investigation of using electrostrictive polymer for energy harvesting, or mechanical to electrical energy conversion, is beginning to show its potential for this application. In this paper we discuss the mechanical and electrical boundary conditions for maximizing the energy harvesting density and mechanical-to-electrical coupling of electrostrictive materials. Mathematical models for different energy harvesting approaches were developed under quasistatic assumptions. Energy harvesting densities then are determined for representative electrostrictive material properties using these models. Comparison with a magnetic-based energy harvesting system suggests that electrostrictive energy harvesting systems are preferable for "small" energy harvesting applications with low-frequency excitation.


Assuntos
Eletroquímica/métodos , Transferência de Energia , Modelos Químicos , Polímeros/química , Polímeros/efeitos da radiação , Simulação por Computador
5.
Atherosclerosis ; 131(1): 67-72, 1997 May.
Artigo em Inglês | MEDLINE | ID: mdl-9180246

RESUMO

In a group of unrelated Danish patients with familial hypercholesterolemia (FH) we recently reported two common low-density lipoprotein (LDL) receptor mutations, W23X and W66G, accounting for 30% of the cases. In this study, we describe another common LDL receptor mutation, a G to C transition at cDNA position 1730 in exon 12, causing a tryptophan to serine substitution in amino acid position 556 (W556S). In the Danish patients, the W556S mutation was present in 12% of 65 possible mutant alleles. The pathogenicity of the W556S mutation, which is located in one of the five conserved motifs Tyr-Trp-Thr-Asp in the epidermal growth factor homology region, was studied in transfected COS-7 cells expressing normal and mutant LDL receptor cDNAs. Results obtained by immunofluorescence flow cytometry and confocal microscopy, as well as by immunoprecipitation, were compatible with complete retention of the mutant protein in the endoplasmic reticulum. The transport-defective W556S mutation and the W23X and W66G mutations seem to account for about 40% of the LDL receptor defects in Danish families with FH.


Assuntos
Hiperlipoproteinemia Tipo II/genética , Mutação Puntual , Receptores de LDL/genética , Sequência de Aminoácidos , Animais , Sequência de Bases , Células COS , Sequência Conservada , Dinamarca , Éxons , Citometria de Fluxo , Imunofluorescência , Humanos , Microscopia Confocal , Sequências Repetitivas de Ácido Nucleico , Serina , Transfecção , Triptofano
6.
Am J Psychol ; 103(2): 229-42, 1990.
Artigo em Inglês | MEDLINE | ID: mdl-2349977

RESUMO

Two experiments provided evidence of environmental context-dependent memory using a homophone spelling test (e.g., Jacoby & Witherspoon, 1982), an implicit, indirect measure of memory (Richardson-Klavehn & Bjork, 1988). Context reinstatement significantly increased priming in both experiments. The finding of environmental context reinstatement effects with this implicit memory test and others (Garberg & Radtke, 1986; Graf, 1988) indicates that the effect can be found reliably using a test that does not encourage subjects to generate their own context cues from memory.


Assuntos
Atenção , Memória , Rememoração Mental , Aprendizagem por Associação de Pares , Fonética , Humanos , Percepção da Fala
7.
W V Med J ; 93(5): 267-9, 1997.
Artigo em Inglês | MEDLINE | ID: mdl-9383342

RESUMO

This article describes our study of 82 awake, alert blunt trauma victims over the age of 18 with Glasgow Coma Scores of 14 or 15. The purpose was to assess whether the examining physicians were able to determine without benefit of X-ray whether the patients had pelvic fractures. Physicians were asked to complete a questionnaire regarding pain on examination of the pelvis, and were then asked if they believed a fracture was clinically present. Seventy-one patients were tested for alcohol; 15 were positive, and 11 had levels greater than 100 mg%. Fifty-five were tested for mind-altering drugs; 20 were positive. Nine had pelvic fractures; seven required no treatment. Eighteen had pain on examination in at least one plane. Seven of these had fractures; six were suspected clinically. Sixty-four patients had no pain; two had fractures that were not suspected clinically and required no specific treatment. We conclude that selective use of pelvic x-rays in awake, alert blunt trauma patients does not result in any clinically significant missed fractures.


Assuntos
Fraturas Ósseas/diagnóstico , Ossos Pélvicos/lesões , Exame Físico/métodos , Ferimentos não Penetrantes/complicações , Adulto , Idoso , Idoso de 80 Anos ou mais , Análise Custo-Benefício , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Índices de Gravidade do Trauma
8.
Int J Pediatr Otorhinolaryngol ; 76(7): 1042-5, 2012 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-22572408

RESUMO

OBJECTIVE: To review the surgical anatomy and histopathology of second branchial cleft fistulae. STUDY DESIGN: Retrospective study of patients treated for second branchial cleft fistulae at a tertiary care pediatric hospital. The senior author noted anatomic and histologic features of second branchial cleft fistulae, not previously described. SETTING: Tertiary care children's hospital. PATIENTS AND METHODS: Retrospective examination of 28 patients was conducted who were operated upon for second branchial cleft fistula. Data collected included age at surgery, initial presentation, imaging characteristics prior to surgery, laterality of the fistula tract, pathology results and follow-up data. RESULTS: Twenty-eight patients met the criteria for inclusion. Three patients (11%) had bilateral fistulae. 11 (39%) were male and 17 (61%) were female. 23 (74.2%) tracts were lined with ciliated columnar epithelium, 3 (9.7%) had cuboidal epithelium, and 5 (16.7%) had squamous epithelium. Nineteen (61.3%) tracts contained salivary tissue. Of the unilateral fistula tracts, 25 (100%) were on the right side. Of the 3 patients with bilateral lesions, 2 (66%) had associated branchio-oto-renal syndrome (BORS). CONCLUSIONS: Second branchial cleft fistulae are rare. They are usually right-sided. If bilateral fistulae are present, one should consider an underlying genetic disorder. The histology of the fistulae mostly demonstrates ciliated columnar epithelium with the majority of specimens showing salivary tissue. There is a clear association with the internal jugular vein (IJV). Dissection should continue until superior to the hyoid bone, ensuring near complete surgical dissection and less risk of recurrence.


Assuntos
Região Branquial/patologia , Região Branquial/cirurgia , Fístula Cutânea/patologia , Fístula Cutânea/cirurgia , Região Branquial/anatomia & histologia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos
9.
Artigo em Inglês | MEDLINE | ID: mdl-21768014

RESUMO

In this paper, an active energy harvesting technique for a spring-mass-damper mechanical resonator with piezoelectric electromechanical coupling is investigated. This technique applies a square-wave voltage to the terminals of the device at the same frequency as the mechanical excitation. By controlling the magnitude and phase angle of this voltage, an effective impedance matching can be achieved which maximizes the amount of power extracted from the device. Theoretically, the harvested power can be the maximum possible value, even at off-resonance frequencies. However, in actual implementation, the efficiency of the power electronic circuit limits the amount of power harvested. A power electronic full-bridge converter is built to implement the technique. Experimental results show that the active technique can increase the effective bandwidth by a factor of more than 2, and harvests significantly higher power than rectifier-based circuits at off-resonance frequencies.

10.
J Gerontol Nurs ; 27(4): 64, 2001 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-11915158
12.
J Clin Psychiatry ; 69(9): 1398-403, 2008 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-19193340

RESUMO

OBJECTIVE: To estimate risks of fracture at any site, and at sites linked with osteoporosis, in mentally ill adults compared with the general population. METHOD: We created a community-based cohort by using the U.K. General Practice Research Database, with follow-up from January 1987 through April 2005. We investigated age- and sex-specific fracture risks in psychotic illness(N = 4283), nonpsychotic affective disorder (N = 95,228), and any other psychiatric condition (N = 49,439). Comparison cases were subjects with no psychiatric code (N = 182,851); age-stratified (18-44 years, 45-74 years, > or = 75 years) relative risks (RRs) were estimated by Poisson regression. Outcomes were incident cases of fracture at any site, at the hip, and at the distal radius. RESULTS: Among all mentally ill women, highest RRs of fracture at any site were in the youngest age group, whereas the strongest effects in men were with older age. The highest raised risk of any fracture occurred in premenopausal women with psychotic disorders (RR = 2.5, 95% CI = 1.5 to 4.3). Hip fracture rates were raised in elderly women and men with psychiatric illness and were especially high in women (RR = 5.1, 95% CI = 2.7 to 9.6) and men (RR = 6.4, 95% CI = 2.6 to 16.1) with psychotic disorders at ages 45 to 74 years. Data were too sparse to estimate RR of distal radius fracture, although risk was modestly (but significantly) higher among women with any mental illness in each age group than the reference population, i.e., women with no history of psychiatric disorder. CONCLUSION: Raised risks of fracture in mental illness are likely to be explained by a range of mechanisms. Further research is needed to elucidate these mechanisms and to inform the development of targeted interventions.


Assuntos
Fraturas Ósseas/epidemiologia , Transtornos Mentais/epidemiologia , Adolescente , Adulto , Fatores Etários , Idoso , Antipsicóticos/efeitos adversos , Antipsicóticos/uso terapêutico , Estudos de Coortes , Estudos Transversais , Feminino , Fraturas do Quadril/epidemiologia , Humanos , Masculino , Transtornos Mentais/tratamento farmacológico , Pessoa de Meia-Idade , Transtornos do Humor/tratamento farmacológico , Transtornos do Humor/epidemiologia , Osteoporose/induzido quimicamente , Osteoporose/epidemiologia , Transtornos Psicóticos/tratamento farmacológico , Transtornos Psicóticos/epidemiologia , Risco , Fatores Sexuais
14.
Clin Chem ; 44(5): 966-72, 1998 May.
Artigo em Inglês | MEDLINE | ID: mdl-9590369

RESUMO

We used a fluorescence flow cytometry assay with a monoclonal low density lipoprotein (LDL) receptor-specific antibody to detect LDL receptor expression on blood T lymphocytes and monocytes. We prepared peripheral blood mononuclear cells from patients with genetically verified LDL receptor-defective (Trp66-Gly mutation, n = 17) or receptor-negative (Trp23-stop mutation, n = 17) heterozygous familial hypercholesterolemia (FH) and from healthy individuals (n = 24). The cells were stimulated to express the maximum amount of LDL receptor by preincubation in lipoprotein-deficient medium. A dual-labeling technique allowed flow cytometric analysis of LDL receptor expression on cells identified by fluorescently conjugated surface marker antibodies. Knowing the LDL receptor gene mutation of the FH patients allowed us to compare the diagnostic capability of this functional assay with the DNA diagnosis and to validate the assay with molecular genetics instead of clinical indices of heterozygous FH. T lymphocytes expressed more LDL receptors and gave better diagnostic results than monocytes, and cells from patients with either the Trp66-Gly or the Trp23-stop mutation had variable but significantly reduced LDL receptor expression. The data indicate that this fluorescence flow cytometry assay is unsuitable for diagnosis of individual cases of heterozygous FH but that it may be useful for functionally characterizing mutations in the LDL receptor gene.


Assuntos
Hiperlipoproteinemia Tipo II/diagnóstico , Mutação , Receptores de LDL/biossíntese , Substituição de Aminoácidos , Anticorpos Monoclonais/imunologia , Contagem de Células , Análise Mutacional de DNA , Citometria de Fluxo , Heterozigoto , Humanos , Hiperlipoproteinemia Tipo II/sangue , Hiperlipoproteinemia Tipo II/genética , Ativação Linfocitária , Monócitos/metabolismo , Receptores de LDL/genética , Receptores de LDL/imunologia , Reprodutibilidade dos Testes , Linfócitos T/metabolismo
15.
Cytometry ; 36(1): 52-9, 1999 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-10331627

RESUMO

BACKGROUND: Studies indicate that human peripheral blood mononuclear cells mirror low-density lipoprotein (LDL) receptor activity of other cells in the body. To measure LDL receptor activity in patients with heterozygous familial hypercholesterolemia (FH), we prepared peripheral blood mononuclear cells from individuals with molecularly verified LDL receptor defective (Trp66-Gly mutation, n = 18) or receptor negative (Trp23-stop mutation, n = 17) heterozygous FH and from healthy individuals (n = 24). METHODS: The cells were stimulated to express maximum LDL receptor by preincubation in lipoprotein-free medium. They were then incubated at 4 degrees or 37 degrees C with fluorescently conjugated LDL (DiI-LDL). T-lymphocytes and monocytes were identified by fluorescently conjugated monoclonal antibodies. DiI-LDL bound (at 4 degrees C) or internalized (at 37 degrees C) by the cells was measured using flow cytometry. Knowing the LDL receptor gene mutation of the FH patients allowed us to compare the diagnostic capability of our functional assay with the DNA diagnosis. RESULTS: The diagnostic accuracy did not allow our assay to be used for diagnosis of individual cases of heterozygous FH. CONCLUSIONS: We suggest that our two-color fluorescence flow cytometry assay can be used to characterize functionally gene mutations causing LDL receptor dysfunction in patients with heterozygous FH.


Assuntos
Citometria de Fluxo/métodos , Hipercolesterolemia/diagnóstico , Monócitos/química , Receptores de LDL/genética , Linfócitos T/química , Arteriosclerose/diagnóstico , Arteriosclerose/genética , Arteriosclerose/imunologia , Análise Mutacional de DNA , Saúde da Família , Humanos , Hipercolesterolemia/genética , Hipercolesterolemia/imunologia , Monócitos/imunologia , Mutação Puntual , Receptores de LDL/análise , Sensibilidade e Especificidade , Linfócitos T/imunologia
16.
Clin Genet ; 57(2): 110-5, 2000 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-10735631

RESUMO

We report a functional characterization of the W23X and W66G low density lipoprotein (LDL) receptor gene mutations. The authors used two-color fluorescence flow cytometry to measure LDL receptor activity in stimulated T-lymphocytes, prepared from patients heterozygous for the W23X or W66G mutation, and compared the results with measurements of LDL receptor activity in stimulated T-lymphocytes prepared from unrelated healthy control subjects. It was found that the W23X mutation significantly reduced LDL receptor expression and LDL binding and internalization, and that the W66G mutation significantly reduced LDL receptor expression and LDL binding. LDL internalization in patients heterozygous for the W66G mutation was not significantly reduced. The data support the concepts that the W23X mutation prevents production of LDL receptors (class I) and that the W66G mutation produces LDL receptors unable to recycle normally in cells (class V).


Assuntos
Mutação , Receptores de LDL/genética , Linfócitos T/metabolismo , Adulto , Estudos de Casos e Controles , Feminino , Citometria de Fluxo , Variação Genética , Humanos , Hiperlipoproteinemia Tipo II/genética , Hiperlipoproteinemia Tipo II/metabolismo , Leucócitos Mononucleares/metabolismo , Masculino , Pessoa de Meia-Idade , Fenótipo , Receptores de LDL/metabolismo
17.
J Surg Oncol ; 19(2): 109-13, 1982 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-6276616

RESUMO

This is a study of 269 patients with lung cancer at the Erie County Medical Center who were admitted between 1973 and 1978. They were analyzed for sex, race, age, history of smoking, occupation, tumor cell type, cytology, incidence of metastases, changes in liver function, mode of treatment, and survival. The incidence of cancer was highest in white males. Only 1.5% of patients were under age 40. Smoking was a predisposing factor. Not enough information was available to determine the relationship of occupation to lung cancer. Squamous cell carcinoma was the most common (53.9%), followed by adenocarcinoma (16.0%) and small-cell carcinoma (12.6%). Sputum cytology was 28.3% sensitive, and bronchial washings were 52.2% sensitive. A greater incidence of bone metastases from a small-cell primary (50%) was found than is reported in the literature. Changes in SGOT and/or SGPT liver enzymes correlated significantly with liver metastases, but not with tumor cell type. Changes in alkaline phosphatase correlated well with bone metastases. Radiation was the most commonly used mode of therapy. The best survival was achieved in patients treated by surgery (22.6 months), followed by surgery and radiation (16.2 months); those treated by radiation alone had a mean survival time of 8.7 months. Untreated patients had a mean survival time of 2.4 months. Treated patients with adenocarcinomas had the longest survival (18.5 months), compared to 13.0 months for those with squamous cell carcinomas and 8.4 months for those with small-cell carcinomas. Only three patients survived 5 years, all of whom were treated surgically for adenocarcinoma. No patients with tumors of other cell types survived 5 years. The 5-year survival rates are 2.1% (3 of 141) for all histologic types of lung cancer and 12.5% (3 of 24) for adenocarcinoma.


Assuntos
Neoplasias Pulmonares/epidemiologia , Adenocarcinoma/epidemiologia , Adenocarcinoma/mortalidade , Adenocarcinoma/terapia , Adulto , Fatores Etários , Idoso , Carcinoma de Células Pequenas/epidemiologia , Carcinoma de Células Pequenas/mortalidade , Carcinoma de Células Pequenas/terapia , Carcinoma de Células Escamosas/epidemiologia , Carcinoma de Células Escamosas/mortalidade , Carcinoma de Células Escamosas/terapia , Feminino , Humanos , Neoplasias Pulmonares/mortalidade , Neoplasias Pulmonares/terapia , Masculino , Pessoa de Meia-Idade , Metástase Neoplásica , New York , Ocupações , Prognóstico , Grupos Raciais , Fatores Sexuais , Fumar
18.
Circ Shock ; 39(3): 199-206, 1993 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-8453744

RESUMO

Fifteen anesthetised pigs (25-30 kg) were divided into three equal groups, sham, dopexamine (D) (10 micrograms/kg/min), and placebo (P). Sepsis was induced by fecal peritonitis in the D and P groups and colloid was infused to try to maintain mean arterial blood pressure (MABP) at a constant value and the hemodynamics measured at baseline and hourly for 8 hr. There was an initial increase in MABP and systemic vascular resistance (SVR) in the P group but not the dopexamine (D) group. Cardiac output (CO) in the P group showed a small decline but increased in the D group. The portal blood flow (PVF) in the P group fell with MABP but increased in the D group as MABP fell. The sham group showed normal ultrastructure and cellular integrity. Occlusion of the hepatic sinusoids was similar in the D and P groups. There was a greater area of Kupffer cells and endothelial cells in the P group, suggesting a greater inflammatory reaction than was found in the D group. Ultrastructure and mitochondrial integrity was better maintained in the D group. Dopexamine hydrochloride infusion maintained CO, increased PVF, and attenuated hepatic ultrastructural changes compared to placebo in a porcine fecal peritonitis model of multisystem organ failure.


Assuntos
Dopamina/análogos & derivados , Fígado/efeitos dos fármacos , Insuficiência de Múltiplos Órgãos/etiologia , Peritonite/complicações , Sistema Porta/efeitos dos fármacos , Animais , Dopamina/farmacologia , Hemodinâmica/efeitos dos fármacos , Fígado/ultraestrutura , Insuficiência de Múltiplos Órgãos/patologia , Insuficiência de Múltiplos Órgãos/fisiopatologia , Suínos
19.
Clin Chem ; 46(2): 224-33, 2000 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-10657378

RESUMO

BACKGROUND: Familial defective apolipoprotein (apo) B-100 (FDB) is caused by a mutation in the apoB gene and characterized by decreased binding of LDL to LDL receptors because of reduced function of the apoB-100 ligand. FDB may be associated with severe hypercholesterolemia and cannot always be distinguished from familial hypercholesterolemia phenotypically. METHODS: We used a fluorescence flow cytometry assay with Epstein-Barr virus-transformed lymphocytes to detect reduced LDL ligand function by competitive binding with fluorescently conjugated LDL (DiI-LDL). The assay was tested and validated using LDL from patients heterozygous for the Arg(3500)-Gln mutation and their first-degree relatives. Knowing the actual apoB genotype of patients and relatives allowed us to assess the ability of the assay to predict the results of DNA analysis. The results were compared to measurements of LDL ligand function in unrelated healthy control subjects to characterize functionally the Arg(3500)-Gln mutation. RESULTS: Fluorescence was significantly increased in cells incubated with DiI-LDL in competition with unlabeled LDL from FDB(R3500Q) heterozygotes compared with cells incubated with DiI-LDL in competition with unlabeled LDL from relatives or unrelated healthy control subjects. Thus, patients heterozygous for the Arg(3500)-Gln mutation had significantly reduced LDL ligand function. The binding affinity of LDL from FDB(R3500Q) heterozygotes was 32% of that in non-FDB relatives and healthy controls. The assay had a diagnostic sensitivity of 0.95 and diagnostic specificity of 0.89. CONCLUSIONS: The diagnostic accuracy of the assay was too low to allow reliable diagnosis of individual cases of heterozygous FDB(R3500Q). However, fluorescence flow cytometry may supplement genetic identification of FDB and functionally characterize gene mutations associated with major reductions in LDL ligand function.


Assuntos
Apolipoproteínas B/química , Lipoproteínas LDL/metabolismo , Receptores de LDL/metabolismo , Adulto , Idoso , Apolipoproteína B-100 , Apolipoproteínas B/genética , Linfócitos B/metabolismo , Feminino , Citometria de Fluxo/métodos , Fluorescência , Heterozigoto , Humanos , Ligantes , Lipoproteínas LDL/química , Lipoproteínas LDL/genética , Masculino , Pessoa de Meia-Idade , Mutação , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
20.
Clin Genet ; 50(5): 388-92, 1996 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-9007329

RESUMO

We describe the clinical, biochemical, and genetic features of a patient with true homozygous familial hypercholesterolemia due to the D558N low-density lipoprotein receptor gene mutation, previously designated FH Cincinnati-4. Functional flow-cytometric analysis of the LDL receptorR protein on upregulated EBV-transformed lymphocytes indicated reduction of the number of receptors on the cell surface by 87% and reduction of receptor activity by 89% compared to control cells. With drugs and a portacaval shunt operation, performed when the patient was 15 years old, serum cholesterol was reduced from about 28 to about 15 mmol/l. He died at the age of 32 of a myocardial infarction. The autopsy showed generalized atherosclerosis, especially in the coronary arteries, which were severely stenosed proximally. A rare finding was a large intracranial xanthoma that apparently had been asymptomatic.


Assuntos
Cromossomos Humanos Par 5 , Hipercolesterolemia/genética , Receptores de LDL/genética , Adulto , Arteriosclerose/genética , Arteriosclerose/metabolismo , Arteriosclerose/fisiopatologia , Linhagem Celular Transformada , Células Cultivadas , Éxons , Seguimentos , Homozigoto , Humanos , Hipercolesterolemia/metabolismo , Hipercolesterolemia/fisiopatologia , Leucócitos Mononucleares/citologia , Mutação , Fenótipo
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA