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1.
Int J Oral Maxillofac Surg ; 51(3): 347-354, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-34456081

RESUMO

Cleft palate lateral synechia (CPLS) syndrome is an extremely rare congenital malformation syndrome of unknown origin, characterized by the association of cleft palate and one or more intraoral lateral synechiae (OMIM # 119550). Fewer than 20 cases have been described to date. The clinical and histological findings and results of genetic investigations for two additional cases of CPLS are presented herein, in order to better delineate this syndrome, within the context of the relevant literature. The first case presented with a U-shaped cleft palate, bilateral synechiae, and Pierre Robin sequence, requiring early sectioning of the synechiae because of severe feeding problems. The second case presented with a V-shaped cleft palate and a single synechia, running from the left border of the cleft to the floor of the mouth, and was without feeding difficulties. In both cases, histopathological examination of the synechiae revealed an aspect of mucous membranes macroscopically, while staining of sections indicated lymphocyte infiltrates and parakeratosis with stratified squamous epithelium, associated with vessel and connective tissue abnormalities. Sequencing of candidate genes did not identify a genetic cause. Accurate clinical descriptions, histopathological diagnosis, and genetic investigations of patients with synechiae are lacking in the literature. Better characterization of future cases of CPLS will give new insights into its developmental causes.


Assuntos
Anormalidades Múltiplas , Fissura Palatina , Anormalidades Maxilomandibulares , Anormalidades da Boca , Síndrome de Pierre Robin , Fissura Palatina/complicações , Fissura Palatina/genética , Fissura Palatina/cirurgia , Humanos , Anormalidades da Boca/diagnóstico , Síndrome de Pierre Robin/complicações , Aderências Teciduais/congênito
2.
J Craniomaxillofac Surg ; 49(2): 75-83, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33358117

RESUMO

This study aimed to evaluate the outcomes following a dynamic orthognathic surgical procedure performed at the end of growth to treat asymmetric maxillomandibular deformities linked to unilateral micrognathia when conventional orthognathic surgery was not feasible. The dynamic orthognathic surgical procedure (DOSP) combined concomitant mandibular distraction osteogenesis with contralateral poorly stabilized sagittal split osteotomy and Le Fort I osteotomy. Cephalometric studies were retrospectively conducted on pre- and postoperative lateral and frontal cephalographs, and maxillomandibular movements were calculated. Outcome scores were computed by both experts and laypersons based on photographic analyses. There was a significant postoperative increase in height of the micrognathic ramus in all patients (n = 12; p = 0.002). The angle between the occlusal cant and horizontal reference plane decreased significantly in all of the patients, as did the angle between the midline sagittal plane and mandibular tilt (p < 0.001). Postoperative outcome scores showed significant improvements in all cases, according to both expert and layperson groups. This procedure allows correction of maxillomandibular asymmetries linked to micrognathia. However, it cannot resolve all the factors participating in facial asymmetry, such as those originating in the oculo-auriculo-ventricular spectrum or complex tumor sequelae, and second-step procedures may be required.


Assuntos
Micrognatismo , Procedimentos Cirúrgicos Ortognáticos , Cefalometria , Assimetria Facial/diagnóstico por imagem , Assimetria Facial/etiologia , Assimetria Facial/cirurgia , Humanos , Mandíbula/diagnóstico por imagem , Mandíbula/cirurgia , Micrognatismo/complicações , Micrognatismo/diagnóstico por imagem , Micrognatismo/cirurgia , Osteotomia de Le Fort , Osteotomia Sagital do Ramo Mandibular , Estudos Retrospectivos , Resultado do Tratamento
3.
Bone ; 141: 115600, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-32822871

RESUMO

Syndromic craniosynostoses are defined by the premature fusion of one or more cranial and facial sutures, leading to skull vault deformation, and midfacial retrusion. More recently, mandibular shape modifications have been described in FGFR-related craniosynostoses, which represent almost 75% of the syndromic craniosynostoses. Here, further characterisation of the mandibular phenotype in FGFR-related craniosynostoses is provided in order to confirm mandibular shape modifications, as this could contribute to a better understanding of the involvement of the FGFR pathway in craniofacial development. The aim of our study was to analyse early mandibular morphology in a cohort of patients with FGFR2- (Crouzon and Apert) and FGFR3- (Muenke and Crouzonodermoskeletal) related syndromic craniosynostoses. We used a comparative geometric morphometric approach based on 3D imaging. Thirty-one anatomical landmarks and eleven curves with sliding semi-landmarks were defined to model the shape of the mandible. In total, 40 patients (12 with Crouzon, 12 with Apert, 12 with Muenke and 4 with Crouzonodermoskeletal syndromes) and 40 age and sex-matched controls were included (mean age: 13.7 months ±11.9). Mandibular shape differed significantly between controls and each patient group based on geometric morphometrics. Mandibular shape in FGFR2-craniosynostoses was characterized by open gonial angle, short ramus height, and high and prominent symphysis. Short ramus height appeared more pronounced in Apert than in Crouzon syndrome. Additionally, narrow inter-condylar and inter-gonial distances were observed in Crouzon syndrome. Mandibular shape in FGFR3-craniosynostoses was characterized by high and prominent symphysis and narrow inter-gonial distance. In addition, narrow condylar processes affected patients with Crouzonodermoskeletal syndrome. Statistical analysis of variance showed significant clustering of Apert and Crouzon, Crouzon and Muenke, and Apert and Muenke patients (p < 0.05). Our results confirm distinct mandibular shapes at early ages in FGFR2- (Crouzon and Apert syndromes) and FGFR3-related syndromic craniosynostoses (Muenke and Crouzonodermoskeletal syndromes) and reinforce the hypothesis of genotype-phenotype correspondence concerning mandibular morphology.


Assuntos
Acrocefalossindactilia , Disostose Craniofacial , Craniossinostoses , Acrocefalossindactilia/diagnóstico por imagem , Acrocefalossindactilia/genética , Disostose Craniofacial/diagnóstico por imagem , Disostose Craniofacial/genética , Humanos , Lactente , Mandíbula/diagnóstico por imagem , Receptor Tipo 2 de Fator de Crescimento de Fibroblastos/genética , Receptor Tipo 3 de Fator de Crescimento de Fibroblastos/genética , Síndrome
4.
J Stomatol Oral Maxillofac Surg ; 121(6): 642-645, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32156674

RESUMO

INTRODUCTION: The high rate of absenteeism in the courses led us to offer virtual classrooms to better meet the expectations of students who may have geographical constraints. The objectives of this study were: to compare student's knowledge acquisition and satisfaction between virtual and traditional face-to-face classroom and to determine potential factors that may correlate with the level of knowledge acquisition following both type of courses. METHODS: Our study included fifth-year medical students attending the course of facial traumatology, who voluntarily participated either in virtual or traditional classroom. Students' knowledge acquisition was evaluated through a multiple-choice questions test. A second questionnaire aimed to determine factors potentially correlated with students' knowledge acquisition and to evaluate their satisfaction. Results of questionnaire no 1 were compared between virtual and traditional classroom. Additionally, a correlation study was performed between the results of questionnaire no 1 and the factors listed in questionnaire no 2. RESULTS: One hundred thirty-six students participated to the course (virtual: 64, traditional: 72). Knowledge acquisition and concentration level didn't significantly differ between the two groups. Knowledge acquisition was positively correlated with the intensity of study of the course topic prior to the class only in traditional classroom (P<10-2). The main listed advantage of the virtual classroom was its flexibility particularly for students with geographical constraints (15/28). CONCLUSION: Considering there is no noticeable difference in knowledge acquisition between virtual and traditional classroom, we will continue virtual classroom in parallel with traditional classroom and extend it to the other courses of our field.


Assuntos
Estudantes de Medicina , Traumatologia , Humanos , Satisfação Pessoal
5.
J Stomatol Oral Maxillofac Surg ; 121(4): 357-362, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31499229

RESUMO

AIM: The aim of the study was to investigate hyoid bone anomalies in patients with Pierre Robin sequence (PRS) compared to the control group, using computed tomography (CT) examination and three-dimensional reconstruction of the hyoid bone and mandible. METHODS: A retrospective study was performed of patients between birth and 12 months old with isolated PRS (i-PRS) and syndromic PRS (ni-PRS), who had undergone CT examination, and whose results were compared to the control group of the same age. DICOM data was processed to highlight bone tissue. The mandible and hyoid bones were the main targets of the three-dimensional reconstruction. The study outcomes were the analysis of hyoid bone ossification, volume, and position (distance between hyoid and mandibular symphysis). Univariate and multivariate statistical analyses were performed with α=0.05 as level of significance. RESULTS: The study sample included 29 i-PRS and 21 ni-PRS patients, while 43 infants in the control group. Hyoid ossification was present in 26/50 (52%) PRS patients (14 i-PRS; 12 ni-PRS) but in 31/43 controls (72%). Statistical analysis showed that absence of hyoid ossification was significantly associated with the diagnosis of PRS (P<0.05). Only ni-PRS patients showed a significant reduction of the distance between hyoid and mandible compared to the control group (P<0.001). Hyoid volume was significantly lower only in the ni-PRS group than in controls (P<0.001). CONCLUSION: I-PRS and ni-PRS patients differ both etiologically and clinically. Ni-PRS patients confirmed their worst clinical condition than i-PRS with severe anomalies of hyoid development, helping for their ontogeny classification.


Assuntos
Osso Hioide , Síndrome de Pierre Robin , Humanos , Osso Hioide/diagnóstico por imagem , Imageamento Tridimensional , Lactente , Síndrome de Pierre Robin/diagnóstico por imagem , Estudos Retrospectivos , Tomografia Computadorizada por Raios X
6.
Int J Oral Maxillofac Surg ; 48(3): 283-290, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30195458

RESUMO

Pai syndrome was originally described as the association of a midline cleft lip, midline facial polyps, and lipoma of the central nervous system. However, only a few patients present with the full triad, and most exhibit a wide spectrum of phenotypic variability. The aim of this study was to phenotypically delineate Pai syndrome and to propose new criteria to facilitate a clinical diagnosis in the future. The study cohort consisted of seven case patients and an additional 60 cases diagnosed with Pai syndrome identified in a literature review. Only 23 of 67 patients presented the full triad as historically described by Pai et al. (1987). A congenital facial midline skin mass was always encountered, particularly affecting the nasal structures (60/67). A midline facial cleft was reported in 45 of 67 patients and a pericallosal lipoma in 42 of 67 patients. The proposed definition of Pai syndrome is the association of (1) a congenital nasal and/or mediofrontal skin mass and/or a mid-anterior alveolar process polyp as a mandatory criterion, and at least one of the following criteria: (2) midline cleft lip and/or midline alveolar cleft, and/or (3) a pericallosal lipoma or interhemispheric lipoma in the case of corpus callosum dysgenesis.


Assuntos
Agenesia do Corpo Caloso/diagnóstico , Fenda Labial/diagnóstico , Coloboma/diagnóstico , Lipoma/diagnóstico , Pólipos Nasais/diagnóstico , Dermatopatias/diagnóstico , Adolescente , Agenesia do Corpo Caloso/genética , Agenesia do Corpo Caloso/patologia , Criança , Pré-Escolar , Fenda Labial/genética , Fenda Labial/patologia , Coloboma/genética , Coloboma/patologia , Diagnóstico Diferencial , Feminino , Humanos , Lactente , Recém-Nascido , Lipoma/genética , Lipoma/patologia , Imageamento por Ressonância Magnética , Masculino , Pólipos Nasais/genética , Pólipos Nasais/patologia , Fenótipo , Dermatopatias/genética , Dermatopatias/patologia , Adulto Jovem
7.
J Stomatol Oral Maxillofac Surg ; 119(5): 419-428, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-29777780

RESUMO

Pierre Robin syndrome (PRS) is characterized of a triad of clinical signs: micrognathia, glossoptosis and obstruction of the upper airways frequently associated with palatal cleft. It is a heterogenic pathological entity and it can be found as isolated disease (nsPRS) or in association with other syndromes (sPRS), with more pronounced symptoms and systemic involvement. This review aims to summarize the principal features of PRS, analysing the different aspects of the disease. Epidemiological data highlight incidence, severity and mortality of PRS; pathophysiological mechanism reports the etiology and pathogenesis of the disease distinguishing between isolated and syndromic form. Because of the clinical importance of PRS, it's fundamental to describe the features of the Robin sequence to clearly define its primary and secondary clinical signs useful to diagnosis. A complete evaluation of the syndrome allows choosing the most appropriate therapeutic treatment, opting for conservative or surgical management, in order to improve the quality of life of the patient.


Assuntos
Obstrução das Vias Respiratórias , Glossoptose , Micrognatismo , Síndrome de Pierre Robin , Humanos , Qualidade de Vida
8.
Open Cardiovasc Med J ; 11: 1-13, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28217180

RESUMO

Hypoxic Pulmonary vasoconstriction (HPV) describes the physiological adaptive process of lungs to preserves systemic oxygenation. It has clinical implications in the development of pulmonary hypertension which impacts on outcomes of patients undergoing cardiothoracic surgery. This review examines both acute and chronic hypoxic vasoconstriction focusing on the distinct clinical implications and highlights the role of calcium and mitochondria in acute versus the role of reactive oxygen species and Rho GTPases in chronic HPV. Furthermore it identifies gaps of knowledge and need for further research in humans to clearly define this phenomenon and the underlying mechanism.

9.
BMJ Open ; 7(1): e014112, 2017 01 16.
Artigo em Inglês | MEDLINE | ID: mdl-28093442

RESUMO

OBJECTIVES: To investigate the efficacy and safety of CS1002, an over-the-counter cough treatment containing diphenhydramine, ammonium chloride and levomenthol in a cocoa-based demulcent. DESIGN: A multicentre, randomised, parallel group, controlled, single-blinded study in participants with acute upper respiratory tract infection-associated cough. SETTING: 4 general practitioner (GP) surgeries and 14 pharmacies in the UK. PARTICIPANTS: Participants aged ≥18 years who self-referred to a GP or pharmacist with acute cough of <7 days' duration. Participant inclusion criterion was cough severity ≥60 mm on a 0-100 mm visual analogue scale (VAS). Exclusion criteria included current smokers or history of smoking within the past 12 months (including e-cigarettes). 163 participants were randomised to the study (mean participant age 38 years, 57% females). INTERVENTIONS: Participants were randomised to CS1002 (Unicough) or simple linctus (SL), a widely used cough treatment, and treatment duration was 7 days or until resolution of cough. MAIN OUTCOME MEASURES: The primary analysis was intention-to-treat (157 participants) and comprised cough severity assessed using a VAS after 3 days' treatment (prespecified primary end point at day 4). Cough frequency, sleep disruption, health status (Leicester Cough Questionnaire (LCQ-acute)) and cough resolution were also assessed. RESULTS: At day 4 (primary end point), the adjusted mean difference (95% CI) in cough severity VAS between CS1002 and SL was -5.9 mm (-14.4 to 2.7), p=0.18. At the end of the study (day 7) the mean difference in cough severity VAS was -4.2 mm (-12.2 to 3.9), p=0.31. CS1002 was associated with a greater reduction in cough sleep disruption (mean difference -11.6 mm (-20.6 to 2.7), p=0.01) and cough frequency (mean difference -8.1 mm (-16.2 to 0.1), p=0.05) compared with SL. There was greater improvement in LCQ-acute quality of life scores with CS1002 compared with SL: mean difference (95% CI) 1.2 (0.05 to 2.36), p=0.04 after 5 days' treatment. More participants prematurely stopped treatment due to cough improvement in the CS1002 group (24.4%) compared with SL (10.7%; p=0.02). Adverse events (AEs) were comparable between CS1002 (20.5%) and SL (27.6%) and largely related to the study indication. 6 participants (7%) in the CS1002 group reduced the dose of medication due to drowsiness/tiredness, which subsequently resolved. These events were not reported by participants as AEs. CONCLUSIONS: Although the primary end point was not achieved, CS1002 was associated with greater reductions in cough frequency, sleep disruption and improved health status compared with SL. TRIAL REGISTRATION NUMBER: EudraCT number 2014-004255-31.


Assuntos
Cloreto de Amônio/uso terapêutico , Tosse/tratamento farmacológico , Difenidramina/uso terapêutico , Mentol/uso terapêutico , Medicamentos sem Prescrição/uso terapêutico , Doença Aguda , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Antipruriginosos/uso terapêutico , Cacau , Demulcentes/uso terapêutico , Combinação de Medicamentos , Feminino , Antagonistas dos Receptores Histamínicos H1/uso terapêutico , Humanos , Masculino , Pessoa de Meia-Idade , Índice de Gravidade de Doença , Método Simples-Cego , Resultado do Tratamento , Reino Unido , Adulto Jovem
10.
Orthop Traumatol Surg Res ; 103(1): 9-13, 2017 02.
Artigo em Inglês | MEDLINE | ID: mdl-27919768

RESUMO

BACKGROUND: A corollary of the current population ageing in France is an increase in proximal femoral fractures (PFFs), particularly among centenarians. The outcomes of PFFs in centenarians in France are unknown. We therefore conducted a retrospective study of centenarians with PFFs both to assess: (1) assess clinical outcomes according to geriatric and trauma scores, (2) and to determine whether routine surgery is warranted. HYPOTHESIS: Morbidity and mortality in a single-centre cohort of centenarians with surgically treated PFFs are consistent with previous reports. MATERIAL AND METHOD: We retrospectively reviewed the data of 33 women and 6 men aged 100 years or over who were treated surgically for PFFs at a single-centre between 2008 and 2014. Of the 39 patients, 15 were living at home and 24 in an institution at the time of the injury. Mean (range) values were 3.30 (0-7) for the Parker Mobility Score, 5.84 (0-12) for the Katz index, and 7.46 (2-12) for the Mini Nutritional Assessment (MNA). Mean time from injury to surgery was 1.7 days (0-12). The 26 extra-capsular fractures were managed by internal fixation and the 13 intra-capsular fractures by hip arthroplasty (n=12) or screw fixation (n=1). RESULTS: After a mean follow-up of 23±14 months (6-60 months), 29 patients had died, including 3 within 48h, 10 within 3 months, and 15 within 1 year. Sequential mortality rates were 33.3% within the first 3 months, 26.9% from months 4 to 9, and 42.2% within the first year. Early dislocation occurred in 3 patients and surgical-site infection in 2 patients. Other complications were heart failure (n=1), confusional state (n=2), pneumonia (n=2), and pyelonephritis (n=2). DISCUSSION: A PubMed search identified five studies of PFFs in more than 10 centenarians, of which only 2 provided detailed information on postoperative general and local morbidity related to the surgical treatment. Our hypothesis was confirmed for 3-month and 1-year mortality rates, which were at the lower ends of previously reported ranges. Local complications related directly to surgery were considerably more common in our study. PFFs in centenarians carry a high risk of death. Despite the absence of a control group, our data support surgery as the best treatment option. LEVEL OF EVIDENCE: IV, retrospective study.


Assuntos
Fraturas do Colo Femoral/mortalidade , Fraturas do Colo Femoral/cirurgia , Idoso de 80 Anos ou mais , Artroplastia de Quadril/efeitos adversos , Parafusos Ósseos , Feminino , Seguimentos , Fixação Interna de Fraturas/efeitos adversos , França/epidemiologia , Avaliação Geriátrica , Luxação do Quadril/etiologia , Humanos , Masculino , Limitação da Mobilidade , Estado Nutricional , Período Pós-Operatório , Estudos Retrospectivos , Infecção da Ferida Cirúrgica/etiologia , Taxa de Sobrevida , Índices de Gravidade do Trauma
11.
Surg Oncol ; 25(3): 263-8, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27566032

RESUMO

OBJECTIVES: To determine prognostic factors in gingivo-alveolar squamous cell carcinoma of the maxilla (GA-SCC-M), and particularly the prognostic value of both vertical and antero-posterior tumor spread. MATERIAL AND METHODS: Our retrospective study included all naïve-treatment patients treated in our center between 2006 and 2013 for GA-SCC-M. Posterior involvement was considered when the tumor extended behind the mesial side of the first maxillary molar. Spread posterior to the maxillary tuberosity was defined by the spread to at least one of the following structures: pterygomaxillary fissure, pterygoid muscles, and processes. Involvement of the maxillary sinus floor, nasal fossa, and orbital floor was assessed, concerning the vertical spread. RESULTS: A radiological tumor spread to the nasal fossa, maxillary sinus floor, and orbital floor were prognostic factors independently of age, cervical lymph node metastasis and positive margins in multivariate analysis (p < 0.05). Radiological suggested spread tended to be noticeably more predictive of a poor prognosis than histological proven tumoral spread. The prognosis was not significantly different between clinical tumoral spread anteriorly or posteriorly to the first molar (p = 0.46). The prognosis was not worsened, even in case of radiological suggested spread posterior to the maxillary tuberosity (p = 0.09). CONCLUSION: A vertical radiological spread of GA-SCC-M was a prognostic factor but not the extension posteriorly to the maxillary tuberosity. T4b tumors were mostly resectable, proving that a T4b stage was not predictive of unresectability in GA-SCC-M of the maxilla.


Assuntos
Adenocarcinoma Bronquioloalveolar/patologia , Carcinoma de Células Escamosas/secundário , Neoplasias Gengivais/patologia , Neoplasias Maxilares/patologia , Adenocarcinoma Bronquioloalveolar/diagnóstico por imagem , Adenocarcinoma Bronquioloalveolar/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Carcinoma de Células Escamosas/diagnóstico por imagem , Carcinoma de Células Escamosas/cirurgia , Feminino , Seguimentos , Neoplasias Gengivais/diagnóstico por imagem , Neoplasias Gengivais/cirurgia , Humanos , Metástase Linfática , Masculino , Neoplasias Maxilares/diagnóstico por imagem , Neoplasias Maxilares/cirurgia , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Prognóstico , Estudos Retrospectivos , Taxa de Sobrevida
12.
Orthop Traumatol Surg Res ; 99(6): 693-7, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23988420

RESUMO

INTRODUCTION: The best treatment for anterior cruciate ligament (ACL) mucoid degeneration remains open to debate. Current options are total or partial ACL resection, or a more conservative strategy, reduction plasty. The goal of this study was to retrospectively evaluate the effects of reduction plasty for ACL hypertrophy due to mucoid degeneration from clinical outcome and knee laxity points of view. MATERIALS AND METHODS: Arthroscopy was carried out on 23 knees (21 patients) to perform a circular volume reduction plasty of the ACL, while preserving the greatest number of ligament fibers. Notchplasty was not performed. All the patients were seen again with an average follow-up of 32 months (range 8-70). RESULTS: All the knees except three had symmetric postoperative flexion. Three patients still had pain. No patient reported having subjective feelings of instability. Among the 20 knees tested with the GNRB(TM) knee laxity measurement device, one knee had a 2.4mm difference in laxity and three had between 3 and 4mm of difference; 16 knees had no residual laxity. DISCUSSION: Treatment of ACL mucoid degeneration by reduction plasty leads to complete pain relief in 80% of cases while maintaining good postoperative knee stability. LEVEL OF EVIDENCE: Level IV. Retrospective study.


Assuntos
Ligamento Cruzado Anterior/patologia , Ligamento Cruzado Anterior/cirurgia , Artroscopia/métodos , Instabilidade Articular/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Amplitude de Movimento Articular/fisiologia , Adulto , Idoso , Estudos de Coortes , Feminino , Seguimentos , Humanos , Hipertrofia/patologia , Hipertrofia/cirurgia , Instabilidade Articular/patologia , Articulação do Joelho/patologia , Articulação do Joelho/cirurgia , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Medição da Dor , Cuidados Pós-Operatórios/métodos , Recuperação de Função Fisiológica , Estudos Retrospectivos , Resistência à Tração , Resultado do Tratamento
13.
Respir Med ; 107(7): 1008-13, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23683772

RESUMO

AIM: We have explored the association of the upper airway symptoms related to cough with exacerbation frequency, sputum microbiology and inflammatory markers in patients with non cystic fibrosis bronchiectasis. METHODS: Patients with bronchiectasis completed the Hull Airway Reflux Questionnaire (HARQ). A score of >13 was taken to indicate the presence of reflux. Patients were followed-up with longitudinal spirometry, sputum culture and Leicester cough questionnaire (LCQ). Myeloperoxidase (MPO), free neutrophil elastase (NE) activity, Interleukin (IL)-8 and Tumour Necrosis Factor (TNF)-α was measured from spontaneous sputum samples. RESULTS: 163 completed the study. 59.5% were female. Mean age was 65.7 years. 73.6% reported airway reflux using HARQ. Patients with airway reflux had more severe cough symptoms as assessed by the LCQ [15.2 (3.5) vs. 19.4 (1.9)], p < 0.001. Sputum levels of MPO, NE, IL-8 and TNF-α were all significantly higher in the reflux positive group (p < 0.05 for all comparisons). In a multivariable logistic regression, airway reflux was independently associated with cough severity (-3.27, standard error 0.81, p = 0.0002). Airway reflux, age, FEV1 % predicted and colonization with Pseudomonas aeruginosa were independently associated with an increased risk of ≥3 bronchiectasis exacerbations in one year. CONCLUSION: The symptoms of airway reflux independently predict severity and exacerbation frequency in non cystic fibrosis bronchiectasis.


Assuntos
Bronquiectasia/complicações , Refluxo Gastroesofágico/etiologia , Qualidade de Vida , Idoso , Antibacterianos/uso terapêutico , Bronquiectasia/tratamento farmacológico , Bronquiectasia/microbiologia , Bronquiectasia/fisiopatologia , Tosse/etiologia , Feminino , Volume Expiratório Forçado/fisiologia , Refluxo Gastroesofágico/microbiologia , Humanos , Mediadores da Inflamação/metabolismo , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Prospectivos , Índice de Gravidade de Doença , Escarro/química , Capacidade Vital/fisiologia
14.
Ann Dermatol Venereol ; 137(10): 635-9, 2010 Oct.
Artigo em Francês | MEDLINE | ID: mdl-20932444

RESUMO

BACKGROUND: Congenital erythropoietic porphyria (CEP) is a genodermatosis associated uroporphyrinogen III synthase deficit that results in porphyrin accumulation in various organs, particularly the skin. It is the most severe form of porphyria associated with haemolytic anaemia and cutaneous phototoxicity. We report a severe case of CEP treated by allogeneic bone marrow transplantation. CASE REPORT: A one-year-old child presented erythrodontia and scarring on exposed areas. The diagnosis of CEP was confirmed by the decline of uroporphyrinogen III synthase activity. Demonstration of p.Cys73Arg mutation confirmed the severity of the disease. Allogeneic bone marrow transplantation resulted in persistent resolution of clinical signs 25 months after grafting. DISCUSSION: Symptomatic treatment is ineffective in this serious disease associated with early mortality. 11 of the 13 patients treated by allogeneic hematopoietic stem cell graft, including our patient, continued to be asymptomatic an average of seven years after transplantation. CONCLUSION: This new case confirms the role of allogeneic hematopoietic stem cell grafting in the treatment of congenital erythropoietic porphyria.


Assuntos
Transplante de Medula Óssea/métodos , Transplante de Células-Tronco Hematopoéticas/métodos , Porfiria Eritropoética/terapia , Alelos , Diagnóstico Diferencial , Feminino , Triagem de Portadores Genéticos , Doença Enxerto-Hospedeiro/tratamento farmacológico , Doença Enxerto-Hospedeiro/etiologia , Humanos , Imunossupressores/uso terapêutico , Lactente , Porfiria Eritropoética/diagnóstico , Porfiria Eritropoética/genética , Descoloração de Dente/diagnóstico , Descoloração de Dente/genética , Descoloração de Dente/terapia , Uroporfirinogênio III Sintetase/genética
15.
Respir Med ; 104(11): 1659-67, 2010 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-20724131

RESUMO

Whilst recent large-scale studies have provided much evidence on the natural history and therapeutic response in patients with chronic obstructive pulmonary disease (COPD), relatively little is known about the effect in younger patients. We report a pre-specified post-hoc analysis of 356 patients with COPD ≤ 50 years old from the four year randomised, double blind placebo controlled Understanding Potential Long Term Impact on Function with Tiotropium (UPLIFT) trial. Inclusion criteria included a post-bronchodilator forced expiratory volume in 1 s (FEV(1)) of ≤70%, FEV(1)/FVC < 0.70, age ≥40 years, and smoking history of ≥10 pack years. Younger patients had a mean FEV(1) of 1.24 L (39% predicted) and an impaired health-related quality of life (St. George's Respiratory Questionnaire (SGRQ)) compared to the entire UPLIFT population. There were 40.2% women and 51.1% current smokers in the younger age group. Tiotropium was associated with a sustained improvement in spirometry and SGRQ. Mean decline in post-bronchodilator FEV(1) was 58 ml/year (placebo) vs. 38 ml/year (tiotropium) (p = 0.01). Corresponding values for pre-bronchodilator FEV(1) were 41 ml/year (placebo) compared with 34 ml/year (tiotropium) (p = 0.34). The hazard ratio (95%CI) for an exacerbation in the younger age group was 0.87(0.68, 1.13)). The rate of exacerbations was reduced by tiotropium (rate ratio (95%CI) = 0.73(0.56, 0.95)). Tiotropium resulted in sustained bronchodilation, improved quality of life, and a decreased exacerbation rate in younger patients. Tiotropium also resulted in a significant reduction in the decline in post-bronchodilator FEV(1), suggesting possible disease modification by tiotropium in younger patients with COPD.


Assuntos
Broncodilatadores/uso terapêutico , Doença Pulmonar Obstrutiva Crônica/tratamento farmacológico , Derivados da Escopolamina/uso terapêutico , Progressão da Doença , Método Duplo-Cego , Feminino , Volume Expiratório Forçado/efeitos dos fármacos , Volume Expiratório Forçado/fisiologia , Humanos , Masculino , Pessoa de Meia-Idade , Doença Pulmonar Obstrutiva Crônica/mortalidade , Doença Pulmonar Obstrutiva Crônica/fisiopatologia , Qualidade de Vida , Inquéritos e Questionários , Brometo de Tiotrópio , Resultado do Tratamento
17.
Handb Exp Pharmacol ; (187): 277-95, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-18825346

RESUMO

Chronic cough is a common and frequently disruptive symptom which can be difficult to treat with currently available medicines. Asthma/eosinophilic airway disease and gastro-oesophageal reflux disease are most commonly associated with chronic cough but it may also trouble patients with chronic obstructive pulmonary disease, pulmonary fibrosis and lung cancer. Over the last three decades there have been a number of key advances in the clinical approach to cough and a number of international guidelines on the management of cough have been developed. Despite the undoubted benefit of such initiatives, more effective treatments for cough are urgently needed. The precise pathophysiological mechanisms of chronic cough are unknown but central to the process is sensitization (upregulation) of the cough reflex. One well-recognized clinical consequence of this hypersensitive state is bouts of coughing triggered by apparently trivial provocation such as scents and odours and changes in air temperature. The main objective of new treatments for cough would be to identify ways to downregulate this heightened cough reflex but yet preserve its crucial role in protecting the airway. The combined efforts of clinicians, scientists and the pharmaceutical industry offer most hope for such a treatment breakthrough. The aim of this chapter is to provide some rationale for the current treatment recommendations and to offer some reflections on the management of patients with chronic cough.


Assuntos
Antitussígenos/uso terapêutico , Tosse/tratamento farmacológico , Animais , Asma/tratamento farmacológico , Asma/fisiopatologia , Doença Crônica , Tosse/fisiopatologia , Tosse/terapia , Humanos , Reflexo/efeitos dos fármacos , Reflexo/fisiologia
19.
Ann Dermatol Venereol ; 135(4): 273-8, 2008 Apr.
Artigo em Francês | MEDLINE | ID: mdl-18420073

RESUMO

BACKGROUND: Lymphomatoid papulosis is a form of CD30+ cutaneous lymphoproliferation characterized by a benign chronic papulonodular eruption that regresses spontaneously. The clinical features contrast with the malignant histological aspect of lesions. Mucosal lesions are rare, with less than 10 published cases. We report four new cases and we highlight characteristic features of lesions at this particular site. PATIENTS AND METHODS: We report four cases of mucous lymphomatoid papulosis in three women aged 37, 38, and 71 years and one 66-year-old man. These cases were collated from three different hospitals: Orléans, Rouen and Caen. Mucosal lesions occurred after cutaneous eruption in two cases but remained isolated or preceded cutaneous lesions in the other two cases. The main site was the mouth in all four cases but one case also involved genital lesions. Two cases involved type A pathological features and two had type C features. Association with lymphoma was excluded on clinical, laboratory and radiological examination. One patient was treated with methotrexate (>7.5mg/week) and did not relapse. Of the three other untreated patients only one did not relapse (short 14-month follow-up). DISCUSSION: Recurrent oral ulcerations may be mucosal manifestations of lymphomatoid papulosis. This site does not appear to have any bearing on prognosis.


Assuntos
Papulose Linfomatoide/patologia , Mucosa Bucal/patologia , Neoplasias Bucais/patologia , Mucosa Nasal/patologia , Neoplasias Nasais/patologia , Neoplasias Cutâneas/patologia , Neoplasias Vulvares/patologia , Adulto , Idoso , Feminino , Humanos , Masculino
20.
Acta pediátr. costarric ; 20(2): 60-64, 2008.
Artigo em Espanhol | LILACS | ID: lil-637457

RESUMO

A pesar de que la vacunación está reconocida como la estrategia de mayor beneficio en la salud pública, existen grupos anti-vacunas que se oponen a su aplicación. Este artículo presenta varias experiencias sobre este tema, analizando el origen de esa renuencia y su efecto en la salud. Las razones que argumentan estos grupos están relacionadas con mitos, creencias filosóficas o religiosas, rumores e información que no se sustenta en evidencia científica. Aun después de descartar la asociación causal entre autismo y vacuna triple viral, fue difícil revertir su efecto negativo en la población y disminuyeron las coberturas de vacunación, reduciendo la protección de inmunidad de rebaño. Los grupos anti vacunas provocaron la resurgencia de enfermedades que, como el sarampión, estaban en vías de eliminación en Inglaterra


Assuntos
Humanos , Imunoterapia Ativa , Medição de Risco , Vacinas
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