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1.
J Acoust Soc Am ; 153(5): 3036, 2023 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-37219495

RESUMO

This article is a discussion on the necessity of the assumption of diffuse field in statistical energy analysis and the validity of the coupling power proportionality which states that the vibrational power exchanged between coupled subsystems is proportional to the difference of their modal energies. It is proposed to re-formulate the coupling power proportionality in terms of local energy density instead of modal energy. We show that this generalized form remains valid even if the vibrational field is not diffuse. Three causes of lack of diffuseness have been studied: coherence of rays in symmetrical geometries, nonergodic geometries, and the effect of high damping. Numerical simulations and experimental results conducted on flat plates in flexural vibration are provided to support these statements.

2.
Sci Rep ; 12(1): 18304, 2022 Oct 31.
Artigo em Inglês | MEDLINE | ID: mdl-36316344

RESUMO

Unexpectedly, granular materials can fail, the structure even destroyed, spontaneously in simple isotropic compression with stick-slip-like frictional behaviour. This extreme behaviour is conceptually impossible for saturated two-phase assembly in classical granular physics. Furthermore, the triggering mechanisms of these laboratory events remain mysterious, as in natural earthquakes. Here, we report a new interpretation of these failures in under-explored isotropic compression using the time-frequency analysis of Cauchy continuous wavelet transform of acoustic emissions and multiphysics numerical simulations. Wavelet transformation techniques can give insights into the temporal evolution of the state of granular materials en route to failure and offer a plausible explanation of the distinctive hearing sound of the stick-slip phenomenon. We also extend the traditional statistical seismic Gutenberg-Richter power-law behaviour for hypothetical biggest earthquakes based on the mechanisms of stick-slip frictional instability, using very large artificial isotropic labquakes and the ultimate unpredictable liquefaction failure.

3.
Rev Sci Instrum ; 92(8): 085002, 2021 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-34470375

RESUMO

Six-axis force/torque sensors are increasingly needed in mechanical engineering. Here, we introduce a flexure-based design for such sensors, which solves some of the drawbacks of the existing designs. In particular, it is backlash-free, it can be wirelessly monitored, it exactly enforces 90° angles between axes, and it enables visual inspection of the monitored system, thanks to its hollow structure. We first describe the generic design, implementation, and calibration procedure. We then demonstrate its capabilities through three illustration examples relevant to the field of tribology: low friction measurements under ultra-high vacuum, multi-directional friction measurements of elastomer contacts, and force/torque-based contact position monitoring.

5.
Eur J Clin Microbiol Infect Dis ; 40(11): 2437-2442, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33907935

RESUMO

We conducted an observational retrospective study of all adults hospitalized for documented varicella-zoster virus (VZV) meningitis or encephalitis during years 2000-2015 in one referral centre. Thirty-six patients (21 males, 15 females) were included, with meningitis (n = 21), or meningoencephalitis (n = 15). Median age was 51 years [interquartile range, 35-76], and 6 patients (17%) were immunocompromised. Aciclovir was started in 32 patients (89%), with a median dose of 11 mg/kg/8 h [10-15]. No patient died, but 12 (33%) had neurological sequelae at discharge. Age was the only variable associated with adverse outcome (OR 1.98 [1.17-3.35] per 10-year increment, P = 0.011).


Assuntos
Infecções do Sistema Nervoso Central/virologia , Herpes Zoster/virologia , Herpesvirus Humano 3/fisiologia , Aciclovir/uso terapêutico , Adulto , Idoso , Antivirais/uso terapêutico , Infecções do Sistema Nervoso Central/tratamento farmacológico , Infecções do Sistema Nervoso Central/imunologia , Feminino , Herpes Zoster/tratamento farmacológico , Herpes Zoster/imunologia , Herpesvirus Humano 3/genética , Herpesvirus Humano 3/isolamento & purificação , Humanos , Hospedeiro Imunocomprometido , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos
6.
Sci Rep ; 11(1): 2902, 2021 Feb 03.
Artigo em Inglês | MEDLINE | ID: mdl-33536583

RESUMO

We report high-temporal-resolution observations of the spontaneous instability of model granular materials under isotropic and triaxial compression in fully drained conditions during laboratory tests representative of earthquakes. Unlike in natural granular materials, in the model granular materials, during the first stage of the tests, i.e., isotropic compression, a series of local collapses of various amplitudes occurs under random triggering cell pressures. During the second stage, i.e., shearing under triaxial compression, the model granular samples exhibit very large quasiperiodic stick-slip motions at random deviatoric triggering stresses. These motions are responsible for very large stress drops that are described by power laws and are accurate over more than 3 decades in logarithmic space. Then, we identify the quasideterministic nature of these stick-slip events, assuming that they are fully controlled by the cell pressure and solid fraction. Finally, we discuss the potential mechanisms that could explain these intriguing behaviors and the possible links with natural earthquakes.

7.
Rev Med Interne ; 42(3): 218-222, 2021 Mar.
Artigo em Francês | MEDLINE | ID: mdl-33153775

RESUMO

INTRODUCTION: Libman-Sacks endocarditis is a rare complication of antiphospholipid syndrome. Anti-vitamin K therapy is the standard treatment, although valvular replacement surgery may be required in some severe cases. In the latest EULAR recommendations, it is advised not to use direct oral anticoagulants in the management of antiphospholipid syndrome, especially of high-risk profile. CASE REPORT: We present a case of a mitral Libman-Sacks endocarditis complicated with multiple strokes occurring in the setting of an antiphospholipid syndrome with triple positive antibody profile in a 63-year-old woman with multiple sclerosis. She was previously treated with apixaban for two years. Tinzaparin followed by prolonged warfarine treatment and two months of hydroxychloroquine resulted in valvular improvement. CONCLUSION: To our knowledge, this is the first case of Libman-Sacks endocarditis occurring during apixaban therapy in a patient with antiphospholipid syndrome. This severe case highlights the inefficiency of direct oral anticoagulants to prevent thrombotic events in the antiphospholipid syndrome.


Assuntos
Síndrome Antifosfolipídica , Endocardite , Lúpus Eritematoso Sistêmico , Síndrome Antifosfolipídica/complicações , Síndrome Antifosfolipídica/diagnóstico , Síndrome Antifosfolipídica/tratamento farmacológico , Endocardite/complicações , Endocardite/diagnóstico , Endocardite/tratamento farmacológico , Feminino , Humanos , Pessoa de Meia-Idade , Pirazóis/efeitos adversos , Piridonas/efeitos adversos
8.
Sci Adv ; 6(41)2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-33036982

RESUMO

Gene and protein expressions display circadian oscillations, which can be disrupted in diseases in most body organs. Whether these oscillations occur in the healthy hippocampus and whether they are altered in epilepsy are not known. We identified more than 1200 daily oscillating transcripts in the hippocampus of control mice and 1600 in experimental epilepsy, with only one-fourth oscillating in both conditions. Comparison of gene oscillations in control and epilepsy predicted time-dependent alterations in energy metabolism, which were verified experimentally. Although aerobic glycolysis remained constant from morning to afternoon in controls, it increased in epilepsy. In contrast, oxidative phosphorylation increased in control and decreased in epilepsy. Thus, the control hippocampus shows circadian molecular remapping, which is altered in epilepsy. We suggest that the hippocampus operates in a different functioning mode in epilepsy. These alterations need to be considered when studying epilepsy mechanisms, designing drug treatments, and timing their delivery.


Assuntos
Epilepsia do Lobo Temporal , Epilepsia , Animais , Epilepsia do Lobo Temporal/genética , Epilepsia do Lobo Temporal/metabolismo , Hipocampo/metabolismo , Camundongos , Proteoma/metabolismo , Transcriptoma
9.
J Hosp Infect ; 105(4): 619-624, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32540461

RESUMO

BACKGROUND: Influenza vaccination coverage is low in France, in at-risk patients and in healthcare workers. AIM: We aimed to estimate the incidence of nosocomial influenza, its characteristics and outcome. METHODS: During one influenza season, we retrospectively evaluated all cases of documented influenza. Inpatients with symptoms onset ≥48 h after admission were enrolled. Data were collected on a standardized questionnaire. RESULTS: From November 2017 to April 2018, 860 patients tested positive for influenza by polymerase chain reaction analysis on a respiratory sample. Among them, 204 (23.7%) were diagnosed ≥48 h after admission, of whom 57 (6.6% of all influenza cases) fulfilled inclusion criteria for nosocomial influenza: 26 women and 31 men, median age 82 years (interquartile range, 72.2-86.9). Twenty patients (38.6%) had recently (<6 months) received the seasonal influenza vaccine. Median time between admission and symptoms onset, and between symptoms onset and diagnosis were, respectively, 11 days (7-19.5) and 29 h (15.5-48). Influenza was mostly acquired in a double-bedded room (N = 39, 68.4%), with documented exposure in 14 cases. Influenza B virus was more common in nosocomial (46/57, 80.7%), than in community-acquired cases (359/803, 44.6%), P<0.001. Mortality rate at three months was 15.8% (N = 9). Incidence of nosocomial influenza was estimated at 0.22 per 1000 hospital-days during the study period. CONCLUSION: Nosocomial influenza is not rare in elderly inpatients, and may have severe consequences. Influenza B virus was over-represented, which suggests higher transmissibility and/or transmission clusters.


Assuntos
Infecção Hospitalar/epidemiologia , Vacinas contra Influenza/administração & dosagem , Influenza Humana/epidemiologia , Cobertura Vacinal/estatística & dados numéricos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Infecção Hospitalar/virologia , Feminino , França/epidemiologia , Pessoal de Saúde/estatística & dados numéricos , Hospitalização/estatística & dados numéricos , Humanos , Incidência , Influenza Humana/prevenção & controle , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto Jovem
10.
R Soc Open Sci ; 5(7): 180639, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30109107

RESUMO

This paper presents the analytical solution of radial vibration of a rolling cylinder submitted to a time-varying point force. In the simplest situation of simply supported edges and zero in-plane vibration, the cylinder is equivalent to an orthotropic pre-stressed plate resting on a visco-elastic foundation. We give the closed-form solution of vibration as a series of normal modes whose coefficients are explicitly calculated. Cases of both deterministic and random forces are examined. We analyse the effect of rolling speed on merging of vibrational energy induced by Doppler's effect for the example of rolling tyre.

11.
Rev Med Interne ; 39(10): 782-791, 2018 Oct.
Artigo em Francês | MEDLINE | ID: mdl-29903680

RESUMO

Non-infective endocarditis, also referred to as non-bacterial thrombotic endocarditis, represent a wide range of rare pathologies, often severe. This review gathered the data available in the literature, to decipher the major information collected on the pathophysiology, the diagnosis and the treatment of these heterogeneous diseases, often misdiagnosed. Characteristics of non-infective endocarditis are similar to infective endocarditis in terms of valvular lesions (mostly left-sided, with regurgitations and vegetations), and their complications (embolism). The diagnosis of non-infective endocarditis is usually considered in patients with blood culture-negative endocarditis. Beyond the usual suspects - marastic endocarditis and systemic lupus erythematosus - which represent more than 75% of the cases, Behçet disease and hypereosinophilic syndrome are the main causes of non-infective endocarditis. More seldomly, rheumatoid arthritis, adult-onset Still disease, allergy to pork in patients with valvular procine bioprosthesis, systemic scleroderma, Cogan or Sneddon syndrome should be suspected. Diagnostic approach is based on history and physical examination, with a special focus on extra-cardiac manifestations, as well as echocardiography, and computed tomography. Treatment relies on intensive management of the underlying disease. Curative anticoagulation is often necessary. Although indications for cardiac surgery are poorly defined, as compared to infective endocarditis, data currently available suggest that an optimal control of the underlying disease before cardiac surgery is of utmost importance, as it dramatically reduces the risk of postoperative complications.


Assuntos
Endocardite não Infecciosa , Adulto , Artrite Reumatoide/complicações , Artrite Reumatoide/diagnóstico , Artrite Reumatoide/epidemiologia , Diagnóstico Diferencial , Ecocardiografia , Embolia/diagnóstico , Embolia/epidemiologia , Embolia/etiologia , Embolia/terapia , Endocardite não Infecciosa/diagnóstico , Endocardite não Infecciosa/epidemiologia , Endocardite não Infecciosa/etiologia , Endocardite não Infecciosa/terapia , Humanos , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/diagnóstico , Lúpus Eritematoso Sistêmico/epidemiologia , Fatores de Risco
13.
Proc Math Phys Eng Sci ; 473(2200): 20160927, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28484335

RESUMO

This paper is a discussion of the hypothesis of weak coupling in statistical energy analysis (SEA). The examples of coupled oscillators and statistical ensembles of coupled plates excited by broadband random forces are discussed. In each case, a reference calculation is compared with the SEA calculation. First, it is shown that the main SEA relation, the coupling power proportionality, is always valid for two oscillators irrespective of the coupling strength. But the case of three subsystems, consisting of oscillators or ensembles of plates, indicates that the coupling power proportionality fails when the coupling is strong. Strong coupling leads to non-zero indirect coupling loss factors and, sometimes, even to a reversal of the energy flow direction from low to high vibrational temperature.

14.
Proc Math Phys Eng Sci ; 473(2197): 20160602, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-28265190

RESUMO

This paper describes a discussion on the method and the status of a statistical theory of sound and vibration, called statistical energy analysis (SEA). SEA is a simple theory of sound and vibration in elastic structures that applies when the vibrational energy is diffusely distributed. We show that SEA is a thermodynamical theory of sound and vibration, based on a law of exchange of energy analogous to the Clausius principle. We further investigate the notion of entropy in this context and discuss its meaning. We show that entropy is a measure of information lost in the passage from the classical theory of sound and vibration and SEA, its thermodynamical counterpart.

15.
Minerva Anestesiol ; 81(10): 1105-17, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26005187

RESUMO

Dexmedetomidine (Dex) demonstrates sedative and analgesic effects. We investigated the intraoperative and postoperative effects of intraoperative Dex administration during surgery in adult patients. A search for randomized placebo-controlled trials was conducted in Pubmed and Embase databases to identify randomized controlled clinical trials using intraoperative Dex for surgery in adult population. Outcome assessed were: intraoperative and postoperative opioid consumption, time of recovery from anesthesia, postoperative pain, and postoperative nausea or vomiting (PONV) in the first 24 hours. Data from each trial were combined to calculate pooled odds ratios (OR), mean difference (MD) or standardized mean difference (SMD) and 95% confidence interval (95 % CI). Heterogeneity was measured using I² statistics. Eighteen randomized controlled trials were analyzed. Dex was administered to 815 patients and 410 received placebo. Overall, Dex significantly decreased intraoperative opioid consumption (SMD=-1.58 [-2.98, -0.19], I²=95 %, P<0.00001), but did not decrease time of recovery from anesthesia (SMD=-0.13 [-1.60, 1.34] minutes, I²=95 %, P<0.00001). Dex significantly reduced postoperative opioid consumption (SMD=-1.58 [-2.98, -0.19], I²=95 %, P<0.00001), postoperative pain intensity (SMD=-0.73 [-1.19, -0.27], I²=62 %, P=0.03), and the prevalence of PONV (OR=0.43 [0.27, 0.69], I²=0 %, P=0.46). This meta-analysis shows that intraoperative Dex administration in adult patients reduces intra and postoperative opioid consumption, postoperative pain and PONV. Time of recovery is not affected.


Assuntos
Analgésicos não Narcóticos/uso terapêutico , Dexmedetomidina/uso terapêutico , Hipnóticos e Sedativos/uso terapêutico , Cuidados Intraoperatórios/métodos , Adulto , Bases de Dados Factuais , Sedação Profunda , Humanos , Dor Pós-Operatória/prevenção & controle , Ensaios Clínicos Controlados Aleatórios como Assunto
16.
J Hand Surg Eur Vol ; 40(8): 796-804, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25342650

RESUMO

The purpose of this study was to evaluate surgeon, patient, and radiographic factors influencing the recommendation for operative treatment in distal radius fractures. In a web-based study 252 orthopaedic surgeons from a variety of countries reviewed 30 consecutive sets of radiographs of patients that presented to our emergency department with a fracture of the distal radius. Surgeons were randomly assigned to receive either 'Radiographs only' or 'Radiographs and clinical information'. Surgery was recommended on average 52% of the time whether or not surgeons received clinical information. Female surgeons, surgeons with less than 21 years of experience, and hand surgeons were more likely to recommend operative treatment, but these factors explained only 1% of the variation. Radiographic criteria (intra-articular fractures, ulnar styloid fractures, dorsal comminution, dorsal tilt, and ulnar variance) explained 49% of the variation. The overall agreement on treatment was moderate and slightly higher among surgeons that received radiographs alone. Level of evidence: Level II, therapeutic; not a clinical study.


Assuntos
Fixação Interna de Fraturas , Fraturas do Rádio/diagnóstico por imagem , Fraturas do Rádio/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Atitude do Pessoal de Saúde , Competência Clínica , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Ortopedia , Seleção de Pacientes , Padrões de Prática Médica , Radiografia , Adulto Jovem
17.
Osteoarthritis Cartilage ; 21(5): 668-75, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-23458785

RESUMO

OBJECTIVE: In patients with trapeziometacarpal arthrosis, we tested the hypothesis that there is no difference in arm-specific disability 5-15 weeks after prescription of a pre-fabricated neoprene or a custom-made thermoplast hand-based thumb spica splint with the metacarpophalangeal joint included and the first interphalangeal joint free. METHOD: One hundred nineteen patients with a diagnosis of trapeziometacarpal arthrosis were prospectively randomized to wear either a neoprene or a thermoplast hand-based thumb spica splint. At enrollment, patients completed a set of validated questionnaires. An average of 9 weeks later, patients returned for a second visit. Bivariable analyses assessed factors associated with disability, pain and satisfaction. Analysis was by intention-to-treat. RESULTS: Sixty-two patients (32 with a neoprene and 30 with a thermoplast splint) completed the study, 51 patients (43%) did not return for the second visit, and six did not complete the protocol for other reasons. Non-completers were significantly younger than completers (P < 0.00044). On average completers rated the neoprene splint as more comfortable (P = 0.048), but there were no detectable differences in Disabilities of the Arm, Shoulder and Hand (DASH), change in DASH, pain, satisfaction, pinch or grip strength between the two splint types in our sample. CONCLUSION: When compared to custom-made thermoplast splints, pre-fabricated neoprene hand-based thumb spica splints are, on average, more comfortable, less expensive, and as effective in treating trapeziometacarpal arthrosis. This trial was registered at Clinicaltrials.gov (NCT00438763).


Assuntos
Articulações Carpometacarpais , Neopreno , Osteoartrite/terapia , Plásticos , Contenções , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Desenho de Equipamento , Feminino , Força da Mão , Humanos , Masculino , Pessoa de Meia-Idade , Osteoartrite/complicações , Osteoartrite/fisiopatologia , Dor/etiologia , Manejo da Dor/métodos , Cuidados Paliativos/métodos , Pacientes Desistentes do Tratamento/estatística & dados numéricos , Satisfação do Paciente , Estudos Prospectivos , Polegar , Trapézio , Resultado do Tratamento
18.
Eur Respir J ; 41(1): 203-16, 2013 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-22878883

RESUMO

In patients with cystic fibrosis, cystic fibrosis transmembrane conductance regulator (CFTR) biomarkers, such as sweat chloride concentration and/or nasal potential difference, are used as end-points of efficacy in phase-III clinical trials with the disease modifying drugs ivacaftor (VX-770), VX809 and ataluren. The aim of this project was to review the literature on reliability, validity and responsiveness of nasal potential difference, sweat chloride and intestinal current measurement in patients with cystic fibrosis. Data on clinimetric properties were collected for each biomarker and reviewed by an international team of experts. Data on reliability, validity and responsiveness were tabulated. In addition, narrative answers to four key questions were discussed and agreed by the team of experts. The data collected demonstrated the reliability, validity and responsiveness of nasal potential difference. Fewer data were found on reliability of sweat chloride concentration; however, validity and responsiveness were demonstrated. Validity was demonstrated for intestinal current measurement, but further information is required on reliability and responsiveness. For all three end-points, normal values were collected and further research requirements were proposed. This body of work adds useful information to support the promotion of CFTR biomarkers to surrogate end-points and to guide further research in the area.


Assuntos
Regulador de Condutância Transmembrana em Fibrose Cística/análise , Fibrose Cística/diagnóstico , Biomarcadores/análise , Fibrose Cística/tratamento farmacológico , Humanos , Reprodutibilidade dos Testes
19.
Funct Plant Biol ; 39(5): 366-378, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32480789

RESUMO

To determine whether irrigation strategy altered the sensitivity of Citrus leaf gas exchange to soil, plant and atmospheric variables, mature (16-year-old) Fino 49 lemon trees (Citrus limon (L.) Burm. fil. grafted on Citrus macrophylla Wester) were exposed to three irrigation treatments: control (irrigated with 100% of crop potential evapotranspiration, ETc), deficit irrigation (DI) and partial rootzone drying (PRD) treatments,which received 75% ETc during the period of highest evaporative demand and 50% ETc otherwise. Furthermore, to assess the physiological significance of root-to-shoot ABA signalling, the seasonal dynamics of leaf xylem ABA concentration ([X-ABA]leaf) were evaluated over two soil wetting-drying cycles during a 2-week period in summer. Although stomatal conductance (gs) declined with increased leaf-to-air vapour pressure deficit (LAVPD), lower leaf water potential and soil water availability, [X-ABA]leaf was only related to stomatal closure in well irrigated trees under moderate (<2.5kPa) atmospheric vapour pressure deficit (VPD). Differences in [X-ABA]leaf were not detected between treatments either before or immediately after (<12h) rewatering the dry side of PRD trees. Leaf water potential was higher in control trees, but decreased similarly in all irrigation treatments as daily LAVPD increased. In contrast, DI and PRD trees showed lower stomatal sensitivity to LAVPD than control trees. Although DI and PRD decreased stomatal conductance and photosynthesis, these treatments did not significantly decrease yield, but PRD increased crop water use efficiency (WUE) by 83% compared with control trees. Thus PRD-induced enhancement of crop WUE in a semiarid environment seems to involve physiological mechanisms other than increased [X-ABA]leaf.

20.
J Cyst Fibros ; 10(5): 326-32, 2011 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-21507732

RESUMO

BACKGROUND: R117H is a frequent missense mutation included in most CFTR mutation panels. However knowledge about the residual function of R117H-CFTR channels in cystic fibrosis-affected organs, e.g. airways, intestines and sweat glands is presently lacking. METHODS: We evaluated clinical CF symptoms and assessed CFTR function by sweat tests, nasal potential difference and intestinal current measurements in 2 homozygous R117H individuals (7T variant). RESULTS: The CFTR activity in airways and intestine was within the normal range. However both individuals presented with a borderline sweat test and the male patient was infertile. CONCLUSIONS: The lack of impact of the R117H mutation on chloride secretion in intestine and nose contrasts with the ~80% loss of CFTR activity reported in patch clamp studies. Apparently CFTR activity is not rate-limiting for chloride secretion in both tissues at levels >20% of normal, or compensatory factors may operate that are absent in heterologous host cells in vitro.


Assuntos
Regulador de Condutância Transmembrana em Fibrose Cística/genética , Regulador de Condutância Transmembrana em Fibrose Cística/metabolismo , Fibrose Cística/genética , Fibrose Cística/fisiopatologia , Mutação de Sentido Incorreto , Adulto , Biópsia , Cloretos/metabolismo , Feminino , Homozigoto , Humanos , Infertilidade Masculina/genética , Infertilidade Masculina/fisiopatologia , Intestinos/fisiologia , Pulmão/fisiologia , Masculino , Técnicas de Patch-Clamp , Glândulas Sudoríparas/fisiologia , Sudorese/fisiologia
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