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1.
J Hosp Infect ; 106(2): 258-263, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32745593

RESUMO

BACKGROUND: To reduce the shortage of N95 respirators and surgical masks during the COVID-19 pandemic, stockpiled equipment beyond its expiry date could be released. AIM: Centralized testing of batches of expired surgical masks and N95 for safe distribution to hospital departments saving users time. METHODS: Tests of compliance with health authority directives were developed and carried out on 175 batches of N95 masks and 31 batches of surgical masks from 12th March 2020 to 16 April 2020. Five quality-control tests were performed on batch samples to check: packaging integrity, mask appearance, breaking strength of elastic ties and strength of nose clip test, and face-fit. FINDINGS: Forty-nine per cent of FFP2 mask batches were compliant with directives, 32% of batches were compliant but with some concerns and 19% of batches were non-compliant. For surgical masks, 58% of batches were compliant, 39% of batches compliant but with concerns and 3% of batches were non-compliant. CONCLUSION: The main areas of non-compliance were the breaking strength of the elastic ties and the nose clip but these alone were not considered to make the masks unacceptable. Only mask appearance and face-fit results were decisive non-compliance criteria.


Assuntos
Infecções por Coronavirus/prevenção & controle , Fidelidade a Diretrizes , Máscaras/normas , Exposição Ocupacional/prevenção & controle , Pandemias/prevenção & controle , Pneumonia Viral/prevenção & controle , Controle de Qualidade , Dispositivos de Proteção Respiratória/normas , Ventiladores Mecânicos/normas , Betacoronavirus , COVID-19 , França , Humanos , SARS-CoV-2 , Fatores de Tempo
2.
Clin Microbiol Infect ; 18(9): E340-6, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22717007

RESUMO

Bordetella pertussis and Bordetella parapertussis are closely related bacterial agents of whooping cough. Whole-cell pertussis (wP) vaccine was introduced in France in 1959. Acellular pertussis (aP) vaccine was introduced in 1998 as an adolescent booster and was rapidly generalized to the whole population, changing herd immunity by specifically targeting the virulence of the bacteria. We performed a temporal analysis of all French B. pertussis and B. parapertussis isolates collected since 2000 under aP vaccine pressure, using pulsed-field gel electrophoresis (PFGE), genotyping and detection of expression of virulence factors. Particular isolates were selected according to their different phenotype and PFGE type and their characteristics were analysed using the murine model of respiratory infection and in vitro cell cytotoxic assay. Since the introduction of the aP vaccines there has been a steady increase in the number of B. pertussis and B. parapertussis isolates collected that are lacking expression of pertactin. These isolates seem to be as virulent as those expressing all virulence factors according to animal and cellular models of infection. Whereas wP vaccine-induced immunity led to a monomorphic population of B. pertussis, aP vaccine-induced immunity enabled the number of circulating B. pertussis and B. parapertussis isolates not expressing virulence factors to increase, sustaining our previous hypothesis.


Assuntos
Proteínas da Membrana Bacteriana Externa/biossíntese , Infecções por Bordetella/microbiologia , Bordetella parapertussis/metabolismo , Bordetella pertussis/metabolismo , Vacina contra Coqueluche/administração & dosagem , Fatores de Virulência de Bordetella/biossíntese , Animais , Proteínas da Membrana Bacteriana Externa/genética , Western Blotting , Infecções por Bordetella/imunologia , Infecções por Bordetella/prevenção & controle , Bordetella parapertussis/genética , Bordetella parapertussis/isolamento & purificação , Bordetella parapertussis/patogenicidade , Bordetella pertussis/genética , Bordetella pertussis/isolamento & purificação , Bordetella pertussis/patogenicidade , Modelos Animais de Doenças , Eletroforese em Gel de Campo Pulsado , Evolução Molecular , Genótipo , Humanos , Macrófagos/microbiologia , Camundongos , Fatores de Virulência de Bordetella/genética , Coqueluche/imunologia , Coqueluche/microbiologia , Coqueluche/prevenção & controle
3.
Infection ; 40(2): 213-7, 2012 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21861122

RESUMO

Studying pertussis-like respiratory infections, we report the cases of three infants with evidence of both Bordetella pertussis and Mycoplasma pneumoniae. Bordetella infection was identified by the real-time polymerase chain reaction (RT-PCR) of nasopharyngeal specimens. Neither B. pertussis nor B. parapertussis were recovered on the culture of nasopharyngeal aspirates (NPAs) from any subjects. M. pneumoniae etiology was diagnosed by culture and RT-PCR. The evolution was fatal for all of the subjects. We conclude that, among patients with Bordetella infection, co-infection with another respiratory pathogen is often probable, and these mixed infections might cause a more severe form of illness, sometimes leading to death.


Assuntos
Infecções por Bordetella/complicações , Bordetella pertussis/isolamento & purificação , Mycoplasma pneumoniae/isolamento & purificação , Pneumonia por Mycoplasma/complicações , Fatores Etários , Infecções por Bordetella/diagnóstico , Coinfecção , Evolução Fatal , Feminino , Humanos , Lactente , Masculino , Pneumonia por Mycoplasma/diagnóstico , Reação em Cadeia da Polimerase em Tempo Real , Fatores de Risco , Índice de Gravidade de Doença , Tunísia
4.
Clin Microbiol Infect ; 17(5): 675-82, 2011 May.
Artigo em Inglês | MEDLINE | ID: mdl-20636430

RESUMO

Surprisingly, most Bordetella parapertussis isolates collected in France since 2007 do not express pertactin, owing to mutations in the structural gene encoding this protein. We used a 454 pyrosequencing strategy to study and compare the genetics of two B. parapertussis isolates (one expressing pertactin and one not expressing pertactin) and the reference strain. No region of difference was detected between the genomes of the two isolates and the genome of the reference strain. No increase in repeated sequences between both isolates was found, and there were very few sequence differences. Using cellular and animal models, we found no substantial difference between the pathogenicity of these B. parapertussis isolates, which is consistent with clinical data. The emergence of these isolates, indicating that pertactin expression is not essential for virulence for B. parapertussis, is discussed.


Assuntos
Proteínas da Membrana Bacteriana Externa/genética , Bordetella parapertussis/genética , Fatores de Virulência de Bordetella/genética , Sequência de Aminoácidos , Animais , Proteínas da Membrana Bacteriana Externa/biossíntese , Sequência de Bases , Bordetella parapertussis/isolamento & purificação , Bordetella parapertussis/patogenicidade , Bordetella pertussis/genética , Bordetella pertussis/isolamento & purificação , DNA Bacteriano/genética , Eletroforese em Gel de Campo Pulsado , França , Regulação Bacteriana da Expressão Gênica , Genoma Bacteriano , Camundongos , Testes de Sensibilidade Microbiana , Mutação , Análise de Sequência de DNA , Deleção de Sequência , Virulência , Fatores de Virulência de Bordetella/biossíntese
5.
Vaccine ; 27(43): 6034-41, 2009 Oct 09.
Artigo em Inglês | MEDLINE | ID: mdl-19666155

RESUMO

Bordetella pertussis isolates not expressing Pertussis Toxin (PT) or Pertactin (PRN) have been collected, for the first time in 2007, in France, a highly vaccinated country with acellular vaccines. Non-expression was due to deletion of the entire ptx locus, to IS481 insertion in the prn gene or deletion of a part of this gene. Genome sequencing does not indicate any regions of differences when compared to other circulating isolates. It nevertheless shows some sequence differences and an increased number of repeated sequences. The infant infected by the isolate not expressing pertussis toxin, did not present hyperlymphocytosis. All isolates were found less pathogen in animal or cellular models; their circulation raises the problem of clinical and biological diagnoses.


Assuntos
Proteínas da Membrana Bacteriana Externa/genética , Bordetella pertussis/genética , Deleção de Genes , Toxina Pertussis/genética , Fatores de Virulência de Bordetella/genética , Animais , Técnicas de Tipagem Bacteriana , Bordetella pertussis/classificação , Bordetella pertussis/isolamento & purificação , Linhagem Celular , Hibridização Genômica Comparativa , DNA Bacteriano/genética , Feminino , França , Genes Bacterianos , Genótipo , Humanos , Lactente , Camundongos , Análise de Sequência com Séries de Oligonucleotídeos , Vacina contra Coqueluche/administração & dosagem , Vacina contra Coqueluche/imunologia , Análise de Sequência de DNA , Coqueluche/imunologia
6.
Arch Pediatr ; 16(9): 1306-8, 2009 Sep.
Artigo em Francês | MEDLINE | ID: mdl-19419849

RESUMO

Beware not to confuse talk about children with children's talk: this should be the golden rule for childhood professionals. Agitation and somatization disrupt the functioning of what is called the functional spheres. The child eats poorly, sleeps poorly, and has problems controlling his sphincters. He presents symptoms that the growing importance of education in today's modern world can no longer neglect. The diversity of the circumstances in which the child is recognized as "disruptive" shows just how much the borders between children and adults are permeable. The disruptive child is also a child disturbed by the adult world in which he is evolving. The author supports his hypotheses with several examples from his practice as a psychoanalyst.


Assuntos
Transtornos de Deficit da Atenção e do Comportamento Disruptivo/psicologia , Relações Pais-Filho , Adulto , Criança , Pré-Escolar , Constipação Intestinal/psicologia , Encoprese/psicologia , Enurese/psicologia , Transtornos da Alimentação e da Ingestão de Alimentos/psicologia , Feminino , Humanos , Acontecimentos que Mudam a Vida , Masculino , Apego ao Objeto , Psicanálise , Agitação Psicomotora/psicologia , Transtornos do Sono-Vigília/psicologia , Meio Social , Apoio Social , Transtornos Somatoformes/psicologia
8.
Aliment Pharmacol Ther ; 21(6): 677-86, 2005 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-15771753

RESUMO

BACKGROUND: Recent data suggest that profound acid suppression may improve outcomes of patients in peptic ulcer bleeding. AIM: To better characterize the role of different pharmacological therapies in this population. METHODS: MEDLINE was used to identify randomized trials (01/1990-04/2003) that assessed the efficacy of pharmacological treatments for patients with bleeding peptic ulcers exhibiting high-risk stigmata (Forrest Ia-IIb). Three groups of treatment were assessed: proton-pump inhibitors given as high-dose bolus followed by intravenous constant infusion (40-80 mg and at least 6 mg/h), high-dose oral proton-pump inhibitors (at least twice the standard dosage), non-high-dose proton-pump inhibitors (other proton-pump inhibitors dosing schedules). Mixed-effect models were used to determine rate differences between treatment and control groups. RESULTS: Eighteen studies (1855 patients) were included. High-dose intravenous proton-pump inhibitors significantly reduced rebleeding (-14.6%), surgery (-5.4%) and mortality (-2.7%) compared with placebo, and rebleeding (-20.6%) compared with H(2)RA. Compared with placebo, high-dose oral proton-pump inhibitors significantly reduced only rebleeding (-11.8%), while non-high-dose proton-pump inhibitor treatment significantly improved all three outcomes. CONCLUSIONS: High-dose intravenous proton-pump inhibitor significantly decreases ulcer rebleeding, surgery and mortality. Early data on high-dose oral proton-pump inhibitor suggest improved rebleeding. The non-high-dose proton-pump inhibitor regimens, including a broad range of dosing, also improved outcomes, suggesting that doses inferior to those in the high-dose intravenous proton-pump inhibitor may be effective.


Assuntos
Úlcera Péptica Hemorrágica/tratamento farmacológico , Inibidores da Bomba de Prótons , Administração Oral , Relação Dose-Resposta a Droga , Humanos , Infusões Intravenosas , Ensaios Clínicos Controlados Aleatórios como Assunto , Resultado do Tratamento
9.
J Fr Ophtalmol ; 27(4): 367-73, 2004 Apr.
Artigo em Francês | MEDLINE | ID: mdl-15173643

RESUMO

PURPOSE: The aim of this 4-Year study was to analyze the population referred to our laboratory for the visual follow-up of hydroxychloroquine or chloroquine treatment. MATERIAL AND METHODS: We received 925 patients: 78% female, 22% male. For each patient, a 13-item criteria was filled out and regular exams were performed. The pathologies were divided in to 4 groups: rheumatoid polyarthritis (P), lupus (L), sarcoidosis (S), others (O). RESULTS: The pathologies were distributed as follows: 48% "P", 29% "L", 3% "S", 1% "P + L", 19% "O". Of these patients, 19% had less than 1 Year of treatment, 73% 1-10 Years and 8% more than 10 Years. The screening exposed no retinal intoxications but 3% presented pre-clinical intoxication (PCI) and 80% were allowed to continue their treatment. The most important statistical results were: 1) a significant relation between the PCI and the duration of the treatment (p<0.001); 2) a non-significant relation between the PCI and the daily dose (p=0.417); and 3) a significant relation between PCI and the cumulative dose (p=0.003). CONCLUSION: The results shows the advantage of the ERG in screening to prevent anti-malarial retinal toxicity. This study confirms that the cumulative dose seems to be more important than the daily dose, but we agree with the international consensus to respect a daily dose under 6.5 mg/kg/d. The results also demonstrated that, with this large and diversified population, there is a need for prospective and multi-centric studies. With the above results, international standards should be established in order to obtain the most efficient screening for each category of patient.


Assuntos
Cloroquina/uso terapêutico , Hidroxicloroquina/uso terapêutico , Testes Visuais , Antirreumáticos/efeitos adversos , Antirreumáticos/uso terapêutico , Artrite Reumatoide/tratamento farmacológico , Cloroquina/efeitos adversos , Feminino , Humanos , Hidroxicloroquina/análogos & derivados , Lúpus Eritematoso Sistêmico/tratamento farmacológico , Masculino , Sarcoidose/tratamento farmacológico
10.
J Biol Rhythms ; 16(5): 502-11, 2001 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-11669423

RESUMO

Light exposure was measured in 30 permanent night nurses to determine if specific light/dark profiles could be associated with a better circadian adaptation. Circadian adaptation was defined as a significant shift in the timing of the episode of melatonin secretion into the daytime. Light exposure was continuously recorded with ambulatory wrist monitors for 56 h, including 3 consecutive nights of work. Participants were then admitted to the laboratory for 24 h where urine was collected every 2 h under dim light for the determination of 6-sulphatoxymelatonin concentration. Cosinor analysis was used to estimate the phase position of the episode of melatonin secretion. Five participants showed a circadian adaptation by phase delay ("delayed participants") and 3 participants showed a circadian adaptation by phase advance ("advanced participants"). The other 22 participants had a timing of melatonin secretion typical of day-oriented people ("nonshifters"). There was no significant difference between the 3 groups for total light exposure or for bright light exposure in the morning when traveling home. However, the 24-h profiles of light exposure were very distinctive. The timing of the main sleep episode was associated with the timing of light exposure. Delayed participants, however, slept in darker bedrooms, and this had a major impact on their profile of light/dark exposure. Delayed and advanced participants scored as evening and morning types, respectively, on a morningness-eveningness scale. This observation suggests that circadian phase prior to night work may contribute to the initial step toward circadian adaptation, later reinforced by specific patterns of light exposure.


Assuntos
Ritmo Circadiano/fisiologia , Melatonina/análogos & derivados , Melatonina/metabolismo , Adaptação Fisiológica , Adulto , Feminino , Humanos , Luz , Masculino , Melatonina/urina , Pessoa de Meia-Idade , Sono/fisiologia
11.
Proc Natl Acad Sci U S A ; 98(19): 10960-5, 2001 Sep 11.
Artigo em Inglês | MEDLINE | ID: mdl-11553816

RESUMO

In Arabidopsis, monogalactosyldiacylglycerol (MGDG) is synthesized by a multigenic family of MGDG synthases consisting of two types of enzymes differing in their N-terminal portion: type A (atMGD1) and type B (atMGD2 and atMGD3). The present paper compares type B isoforms with the enzymes of type A that are known to sit in the inner membrane of plastid envelope. The occurrence of types A and B in 16:3 and 18:3 plants shows that both types are not specialized isoforms for the prokaryotic and eukaryotic glycerolipid biosynthetic pathways. Type A atMGD1 gene is abundantly expressed in green tissues and along plant development and encodes the most active enzyme. Its mature polypeptide is immunodetected in the envelope of chloroplasts from Arabidopsis leaves after cleavage of its transit peptide. atMGD1 is therefore likely devoted to the massive production of MGDG required to expand the inner envelope membrane and build up the thylakoids network. Transient expression of green fluorescent protein fusions in Arabidopsis leaves and in vitro import experiments show that type B precursors are targeted to plastids, owing to a different mechanism. Noncanonical addressing peptides, whose processing could not be assessed, are involved in the targeting of type B precursors, possibly to the outer envelope membrane where they might contribute to membrane expansion. Expression of type B enzymes was higher in nongreen tissues, i.e., in inflorescence (atMGD2) and roots (atMGD3), where they conceivably influence the eukaryotic structure prominence in MGDG. In addition, their expression of type B enzymes is enhanced under phosphate deprivation.


Assuntos
Galactosiltransferases/genética , Glicolipídeos/biossíntese , Fotossíntese/fisiologia , Sequência de Aminoácidos , Arabidopsis/enzimologia , Arabidopsis/genética , Sequência de Bases , Fracionamento Químico , Cloroplastos , DNA de Plantas , Diglicerídeos/metabolismo , Escherichia coli , Células Eucarióticas , Galactolipídeos , Galactosiltransferases/classificação , Galactosiltransferases/isolamento & purificação , Galactosiltransferases/metabolismo , Expressão Gênica , Genes de Plantas , Proteínas de Fluorescência Verde , Proteínas Luminescentes/genética , Proteínas Luminescentes/metabolismo , Dados de Sequência Molecular , Fosfatos/metabolismo , Filogenia , Células Procarióticas , Proteínas Recombinantes de Fusão/classificação , Proteínas Recombinantes de Fusão/genética , Proteínas Recombinantes de Fusão/isolamento & purificação , Proteínas Recombinantes de Fusão/metabolismo , Especificidade por Substrato , Distribuição Tecidual
12.
Biochem Soc Trans ; 28(6): 732-8, 2000 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-11171188

RESUMO

Because the synthesis of monogalactosyldiacylglycerol (MGDG) is unique to plants, identified as an important marker of the plastid envelope, involved in a key step of plastid biogenesis and is the most abundant lipid on earth, MGDG synthase activity was extensively analysed at the biochemical and physiological levels. In the present paper, we present our current knowledge on the MGDG synthase's function, structure and topology in envelope membranes, and discuss possible roles in plant cell glycerolipid metabolism. The recent discovery of a multigenic family of MGDG synthases raised the possibility that multiple isoenzymes might carry out MGDG synthesis in various tissues and developmental stages.


Assuntos
Galactosiltransferases/genética , Galactosiltransferases/metabolismo , Família Multigênica , Plantas/enzimologia , Plantas/genética , Sequência de Aminoácidos , Arabidopsis/enzimologia , Arabidopsis/genética , Cloroplastos/enzimologia , Clonagem Molecular , Cucumis sativus/enzimologia , Cucumis sativus/genética , Escherichia coli , Membranas Intracelulares/enzimologia , Dados de Sequência Molecular , Proteínas Recombinantes/metabolismo , Alinhamento de Sequência , Homologia de Sequência de Aminoácidos , Spinacia oleracea/enzimologia , Spinacia oleracea/genética
13.
Sleep ; 22(7): 877-85, 1999 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-10566906

RESUMO

STUDY OBJECTIVES: To test the hypothesis that nightworkers' diurnal sleep complaints are associated with the timing of melatonin secretion. DESIGN: After a minimum of three consecutive night shifts, the subjects were admitted to the laboratory for 24 hours during which they were allowed to eat and sleep ad lib. Urine was collected every two hours under dim illumination (<25 lux). Concentration of urinary 6-sulphatoxymelatonin (UaMT6s) was determined by radioimmunoassay. Sleep quality was assessed by questionnaires. SETTING: NA PARTICIPANTS: Two groups of 15 night nurses with mild and severe daytime sleep complaints. INTERVENTIONS: NA RESULTS: The proportion of the episode of UaMT6s excretion happening during the day (between 08:00 and 00:00 hours) was smaller in the group of nightworkers with severe daytime sleep complaints, and was negatively correlated with the severity of the complaints over the 30 subjects. A longer duration of melatonin secretion was associated with a lower severity of daytime sleep complaints. However, in most of the subjects with good daytime sleep quality, melatonin secretion remained essentially nocturnal, and the overlap with the time of their sleep episode was small or even absent. CONCLUSIONS: Timing and duration of melatonin secretion were associated with better daytime sleep quality when the subjects had an increased proportion of melatonin secreted during the day. When there was an indication of circadian phase shift, the direction of the shift was not of primary importance for daytime sleep quality. A longer duration of melatonin secretion may increase the tolerance to an abnormal circadian phase.


Assuntos
Melatonina/metabolismo , Enfermeiras e Enfermeiros , Transtornos do Sono do Ritmo Circadiano/diagnóstico , Adulto , Feminino , Humanos , Masculino , Melatonina/urina , Pessoa de Meia-Idade , Radioimunoensaio , Índice de Gravidade de Doença , Inquéritos e Questionários , Fatores de Tempo
14.
Presse Med ; 28(21): 1121-7, 1999 Jun 12.
Artigo em Francês | MEDLINE | ID: mdl-10399505

RESUMO

A survey was conducted among 250 graduates of the Bobigny School of Medicine (University Paris-Nord) who had completed medical school from 1986 to 1989 in order to ascertain their opinion concerning the training received. Ninety former students (36%) responded. The mean age of the sample was 34 years; 46 women and 44 men. Most (88.9%) were practicing medicine, principally as general practitioners (61.8%). 81.6% felt they had been well prepared to practice medicine. The rate of satisfaction was higher in the area of fundamental science than in clinical science. The responders generally felt that teaching and validation methods should emphasize real situations. The main criticism concerning the curriculum was an insufficient degree of professionalism, particularly in fields currently of particular importance: epide miology, health economics, education, prevention, office management. Training was also considered to be insufficient in medical techniques, communication, priority decision making, team work, emergency care, organization of time and handling stress. The responders suggested that the future curriculum should focus more on information search, research methodology and computer science. The results of this survey collaborate findings of recent retrospective long-term analyses conducted in other European countries.


Assuntos
Educação Médica Continuada/normas , Educação de Pós-Graduação em Medicina/normas , Estudantes de Medicina , Estudos de Avaliação como Assunto , Feminino , França , Humanos , Masculino , Estudos Retrospectivos
16.
Eur J Dent Educ ; 1(2): 70-7, 1997 May.
Artigo em Inglês | MEDLINE | ID: mdl-9567904

RESUMO

The objective of this study was to analyse the perception of the practical value of their training experience for 4 groups of alumni graduated between 1986 and 1989 at the Faculty of Odontology, University Paris 5. The 240 participants (45% response rate) perceived their training to have been adequate with respect to procedural activities. On the other hand, the graduates expressed a desire for more emphasis in emergencies, interpersonal relationship, office management and such clinical topics as fixed prosthodontics, surgery and periodontics. Surveys aimed at alumni may be useful for the evaluation of programme results and to determine which items should be added or deleted according to either health criteria or the conditions of dental practice.


Assuntos
Atitude do Pessoal de Saúde , Currículo , Odontólogos/psicologia , Educação em Odontologia/estatística & dados numéricos , Faculdades de Odontologia , Comportamento do Consumidor , Educação em Odontologia/métodos , Feminino , França , Odontologia Geral/educação , Humanos , Masculino , Competência Profissional , Avaliação de Programas e Projetos de Saúde , Inquéritos e Questionários
17.
Phys Rev B Condens Matter ; 50(24): 18479-18488, 1994 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-9976283
20.
Lancet ; 341(8856): 1303-6, 1993 May 22.
Artigo em Inglês | MEDLINE | ID: mdl-8098448

RESUMO

Variation in plasma-cholesterol concentration and the expression of coronary heart disease in patients with homozygous familial hypercholesterolaemia (FH) is well documented, but the underlying reasons for variation are not clearly defined. Because FH is caused by mutations at the low-density-lipoprotein-gene locus, we compared plasma-cholesterol concentrations in 21 FH homozygotes with either the greater than 10 kb deletion (promoter region and exon 1) (11 subjects) or the exon 3 missense (trp66-->gly) mutation (10 subjects) of the low-density-lipoprotein gene. Subjects with the greater than 10 kb deletion had a higher mean plasma-cholesterol concentration than those with the exon 3 mutations (26.7 vs 16.1 mmol/L; p = 0.000006), and there was no overlap in individual plasma-cholesterol concentrations between subjects in the two groups. Although the frequency of coronary heart disease was similar in the two groups, age-of-onset was earlier in subjects with the greater than 10 kb deletion (p = 0.059). Also, coronary deaths were more frequent (p = 0.044) and occurred at an earlier age (p = 0.009) in subjects with the greater than 10 kb deletion. Our results provide evidence that there is less variation in plasma-cholesterol concentrations among FH homozygotes when they are subdivided into groups according to low-density-lipoprotein-receptor-gene defect. Furthermore, differences in plasma-cholesterol concentrations are reflected in the severity of coronary heart disease expression.


Assuntos
Colesterol/sangue , Doença das Coronárias/complicações , Homozigoto , Hiperlipoproteinemia Tipo II/genética , Lipoproteínas LDL/genética , Adolescente , Adulto , Criança , Éxons/genética , Feminino , Deleção de Genes , Humanos , Hiperlipoproteinemia Tipo II/sangue , Hiperlipoproteinemia Tipo II/complicações , Masculino , Mutação , Regiões Promotoras Genéticas/genética
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