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1.
Prog Urol ; 33(7): 362-369, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-36906431

RESUMO

BACKGROUND: Bowel symptoms are commonly experienced by patients with Multiple sclerosis (PwMS), but no specific questionnaire validated in this population allows a rigorous assessment. OBJECTIVE: Validation of a multidimensional questionnaire assessing bowel disorders in PwMS. METHODS: A prospective, multicenter study was conducted between April 2020 and April 2021. The STAR-Q (Symptoms' assessmenT of AnoRectal dysfunction Questionnaire), was built in 3 steps. First, literature review and qualitative interviews were performed to create the first version, discussed with a panel of experts. Then, a pilot study assessed comprehension, acceptation and pertinence of items. Finally, the validation study was designed to measure content validity, internal consistency reliability (alpha coefficient of Cronbach) and test-retest reliability [intraclass correlation coefficient (ICC)]. The primary outcome was good psychometric properties with Cronbach's α>0.7 and ICC>0.7. RESULTS: We included 231 PwMS. Comprehension, acceptation and pertinence were good. STAR-Q showed a very good internal consistency reliability (Cronbach's α=0.84) and test-retest reliability (ICC=0.89). Final version of STAR-Q was composed of 3 domains corresponding in symptoms (Q1-Q14), treatment and constraints (Q15-Q18) and impact on quality of life (Q19). Three categories of severity were determined (STAR-Q≤16: minor, between 17 and 20: moderate, and≥21: severe). CONCLUSIONS: STAR-Q presents very good psychometric properties and allows a multidimensional assessment of bowel disorders in PwMS.


Assuntos
Esclerose Múltipla , Doenças Retais , Humanos , Estudos Prospectivos , Reprodutibilidade dos Testes , Qualidade de Vida , Projetos Piloto , Esclerose Múltipla/complicações , Esclerose Múltipla/diagnóstico , Inquéritos e Questionários , Psicometria/métodos
2.
Prog Urol ; 33(4): 178-197, 2023 Mar.
Artigo em Francês | MEDLINE | ID: mdl-36609138

RESUMO

INTRODUCTION: Improved life expectancy and prenatal screening have changed the demographics of spina bifida (spinal dysraphism) which has presently become a disease of adulthood. Urinary disorders affect almost all patients with spinal dysraphism and are still the leading cause of mortality in these patients. The aim of this work was to establish recommendations for urological management that take into account the specificities of the spina bifida population. MATERIALS AND METHODS: National Diagnosis and Management Guidelines (PNDS) were drafted within the framework of the French Rare Diseases Plan at the initiative of the Centre de Référence Maladies Rares Spina Bifida - Dysraphismes of Rennes University Hospital. It is a collaborative work involving experts from different specialties, mainly urologists and rehabilitation physicians. We conducted a systematic search of the literature in French and English in the various fields covered by these recommendations in the MEDLINE database. In accordance with the methodology recommended by the authorities (Guide_methodologique_pnds.pdf, 2006), proposed recommendations were drafted on the basis of this literature review and then submitted to a review group until a consensus was reached. RESULTS: Bladder dysfunctions induced by spinal dysraphism are multiple and varied and evolve over time. Management must be individually adapted and take into account all the patient's problems, and is therefore necessarily multi-disciplinary. Self-catheterisation is the appropriate micturition method for more than half of the patients and must sometimes be combined with treatments aimed at suppressing any neurogenic detrusor overactivity (NDO) or compliance alteration (anticholinergics, intra-detrusor botulinum toxin). Resort to surgery is sometimes necessary either after failure of non-invasive treatments (e.g. bladder augmentation in case of NDO resistant to pharmacological treatment), or as a first line treatment in the absence of other non-invasive alternatives (e.g. aponeurotic suburethral tape or artificial urinary sphincter for sphincter insufficiency; urinary diversion by ileal conduit if self-catheterisation is impossible). CONCLUSION: Spinal dysraphism is a complex pathology with multiple neurological, orthopedic, gastrointestinal and urological involvement. The management of bladder and bowel dysfunctions must continue throughout the life of these patients and must be integrated into a multidisciplinary context.


Assuntos
Disrafismo Espinal , Bexiga Urinaria Neurogênica , Bexiga Urinária Hiperativa , Gravidez , Feminino , Humanos , Adulto , Bexiga Urinaria Neurogênica/etiologia , Disrafismo Espinal/complicações , Bexiga Urinária , Bexiga Urinária Hiperativa/etiologia , Procedimentos Cirúrgicos Urológicos/efeitos adversos
3.
Arch Pediatr ; 28(4): 301-306, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-33744119

RESUMO

BACKGROUND: A benchmark study was conducted in the southwest of France, in the New Aquitaine region, to investigate metabolic outcomes and availability of resources in pediatric diabetes units. We assessed whether the level of care was in accordance with the International Society for Pediatric and Adolescent Diabetes recommendations. METHODS: Demographic and clinical data were collected, as were all HbA1c tests for the 2017 calendar year. Pediatricians specialized in diabetes care were invited to complete an online survey concerning means allocated to the management of type 1 diabetes in their centers. RESULTS: Sixteen centers provided data for 1277 patients and 3873 clinical visits. A total of 1115 children suffering from diabetes for more than 1 year were studied. Median HbA1c was 8% (7.4-8.6) for the whole region. Only 29.2% of children had good metabolic control in accordance with the <7.5% target. We identified slight but significant variation in glycemic control among centers (P=0.029). The use of an insulin pump varied greatly among centers but did not explain HbA1c differences. We did not identify a correlation between medical or paramedical time dedicated to the follow-up of diabetic patients and the mean HbA1c of each center. For 100 diabetic patients, follow-up was provided by 0.42 physicians (0.23-1.50), 0.15 nurses (0-0.56), 0.12 dietitians (0-0.48), and 0.07 psychologists (0-0.30). CONCLUSION: This study demonstrates a lack of human resources allocated to the management of type 1 diabetes in the region that is far below international recommendations. The proportion of children achieving the international glycemic target is low. There is a clear need to improve glycemic control in children, which will only be possible with improved professional practices, encouraged by benchmark studies, and by increasing the size of our multidisciplinary teams.


Assuntos
Benchmarking/métodos , Glicemia/metabolismo , Diabetes Mellitus Tipo 1/tratamento farmacológico , Recursos em Saúde/estatística & dados numéricos , Adolescente , Criança , Estudos Transversais , Diabetes Mellitus Tipo 1/economia , Diabetes Mellitus Tipo 1/epidemiologia , Feminino , França/epidemiologia , Alocação de Recursos para a Atenção à Saúde , Acessibilidade aos Serviços de Saúde , Humanos , Masculino
5.
Prog Urol ; 29(11): 579-585, 2019 Sep.
Artigo em Francês | MEDLINE | ID: mdl-31302008

RESUMO

OBJECTIVE: To highlight the existence of pseudo-dyssynergia in Idiopathic Parkinson's Disease (IPD) constituting a functional bladder outlet obstruction. MATERIALS AND METHODS: A retrospective study was conducted by including men with a confirmed diagnose of IPD who participated in the SIROCCO rehabilitation program. Patients included clinically exhibited overactive bladder and voiding dysfunction without prostatic hypertrophy ultrasounded. They have been clinically assessed by the Urinary Symptoms Profile (USP) urinary symptom score. Bladder outlet obstruction was assessed by the pressure-flow study. Urodynamic obstruction has been quantified by the bladder obstruction index which depends on detrusor pressure at maximum flow rate and maximum flow rate. It has been defined by a BOOI>40. RESULTS: The pressure-flow profile was analyzed in 5 patients who met the inclusion criteria. In this group of 5 patients with IPD, the diagnosis was made on average 10.6 years (7-14) before the pressure-flow studies were performed. Our results objectified 4 patients obstructive among 5 and one equivocal patient. A striated pseudo-dyssynergia was found in the 3 obstructive patients and associated with a smooth pseudodyssynergia in one patient. CONCLUSION: We have observed, in this short series, a pseudo-dyssynergia by subjects suffering from IPD. LEVEL OF EVIDENCE: 3.


Assuntos
Doença de Parkinson/complicações , Obstrução do Colo da Bexiga Urinária/etiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos
6.
J Extracell Vesicles ; 8(1): 1603048, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31069026

RESUMO

In Mammals, microglial cells are considered as the resident immune cells in central nervous system (CNS). Many studies demonstrated that, after injury, these cells are activated and recruited at the lesion site. Leech microglia present a similar pattern of microglial activation and migration upon experimental lesion of CNS. This activation is associated with the release of a large amount of extracellular vesicles (EVs). We collected EVs released by microglia primary culture and compared two different protocols of isolation: one with differential ultracentrifugation (UC) and one using an additional Optiprep™ Density Gradient (ODG) ultracentrifugation. Nanoparticles tracking analysis (NTA) and transmission electron microscopy (TEM) were used to assess vesicles size and morphology. The protein content of isolated EVs was assessed by mass spectrometry approaches. Results showed the presence of EV-specific proteins in both procedures. The extensive proteomic analysis of each single ODG fractions confirmed the efficiency of this protocol in limiting the presence of co-isolated proteins aggregates and other membranous particles during vesicles isolation. The present study permitted for the first time the characterisation of microglial EV protein content in an annelid model. Interestingly, an important amount of proteins found in leech vesicles was previously described in EV-specific databases. Finally, purified EVs were assessed for neurotrophic activity and promote neurites outgrowth on primary cultured neurons.

7.
Prog Urol ; 29(7): 378-384, 2019 Jul.
Artigo em Francês | MEDLINE | ID: mdl-30876700

RESUMO

PURPOSE: To investigate efficiency and tolerance of transcutaneous tibial nerve stimulation (TNS) in the overactive bladder syndrome in patients with Parkinson's disease (PD), and to identify predictive factors for compliance. METHODS: We conducted a retrospective monocentric study with a cohort of 17 patients with PD who have used TNS for an overactive bladder syndrome. The efficiency of the treatment was evaluated on the clinical improvement felt (rated out of ten). Patients were classified as « adopters ¼ if they continued using TNS for at least one year after beginning the treatment or as « non adopters ¼ if they stopped. Patients characteristics were evaluated for their predictive value for compliance with TNS. RESULTS: Out of 17 patients, there were 9 women and 8 men, median age 66 years (55-77), median history for Parkinson's disease 8 years (1-22) and for urinary symptoms 3 years (1-10). Subjective efficiency was seen in 10 patients (59%), on nocturia and/or urinary incontinence for 9 patients (mean efficiency 5.75/10 and median efficiency 6.5/10). Three patients found TNS not effective, and four patients didn't use it long enough to evaluate. Two patients had side effects and stopped the TNS (feeling of electricity and restless leg syndrome). 7 patients were classified as « adopters ¼ and 10 patients as « non adopters ¼ after one year. Most evaluated characteristics proved not to be of predictive value for compliance with TNS except nocturia and pollakiuria (P=0.03 and P=0.05). CONCLUSION: Our study seems to reveal TNS is particularly effective on nocturia and urge. Moreover, nocturia and pollakiuria appear to be predictive factors for SNT compliance. Nocturia could be a prominent symptom in SNT's prescription. But studies with more patients should be conducted for obtain better patient selection in TNS. LEVEL OF EVIDENCE: IV.


Assuntos
Cooperação do Paciente/estatística & dados numéricos , Nervo Tibial , Estimulação Elétrica Nervosa Transcutânea , Bexiga Urinária Hiperativa/terapia , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/complicações , Estudos Retrospectivos , Síndrome , Estimulação Elétrica Nervosa Transcutânea/métodos , Resultado do Tratamento , Bexiga Urinária Hiperativa/etiologia
8.
Prog Urol ; 27(7): 439-445, 2017 Jun.
Artigo em Francês | MEDLINE | ID: mdl-28576426

RESUMO

BACKGROUND: The aim of this study was to assess the impact of medico-pharmaceutical partnership on the quality of antibiotic treatment in urinary tract infection (UTI) within rehabilitation center. MATERIAL: All antibiotic prescriptions were validated by the pharmacist at the start of treatment and twice a week. All patients with symptomatic urinary tract infection between January 1, 2014 to December 31, 2015 were included in this study. Addition to awareness among specifiers to promoting the appropriate use of antibiotics, the pharmacist suggested pharmaceutical interventions (PI) in order to improve the quality of antibiotic treatments. At the same time, 3 quality indicators (QI) were followed: duration, dosage, antibiotic susceptibility. The compliance rates of this 3 QI allowed to assess the quality of the antibiotic treatment in urinary tract infection. RESULTS: The study population included 154 patients corresponding to 252 UTI. Sixty-eight PI were made by pharmacist about urinary tract infection treatment (overdosage or under-dosing, duration unknown, inadequate route of administration). These QI achieved 96.4% compliance with duration, 98.8% compliance with dosage and 99.2% with the antibiotic susceptibility. CONCLUSION: This study allowed showing the medico-pharmaceutical impact on the quality of antibiotic treatments in UTI. The awareness among specifiers with a daily validation of prescription by the pharmacist allowed to improve urinary tract infections care in rehabilitation center. LEVEL OF EVIDENCE: 4.


Assuntos
Antibacterianos/uso terapêutico , Infecções Urinárias/tratamento farmacológico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Prescrições de Medicamentos/estatística & dados numéricos , Uso de Medicamentos/estatística & dados numéricos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Centros de Reabilitação , Adulto Jovem
9.
Prog Urol ; 25(11): 642-8, 2015 Sep.
Artigo em Francês | MEDLINE | ID: mdl-26094097

RESUMO

UNLABELLED: Intradetrusor injection of botulinum toxin is one of the second-line therapy of neurologenic detrusor overactivity. GOAL OF THE STUDY: In 26% to 66% of the cases, intradetrusor injection of botulinum toxin is inefficient in order to reduce overactive bladder symptoms and/or overactive detrusor. The objective of this study is to determine whether it exists a link between the efficacy of the first IDBT and the length of neurological detrusor overactivity symptoms. METHODS: Retrospective study on 79 patients which have a first intradetrusor injection of botulinum toxin between January 2001 and December 2013. Inclusion criteria were patients older than 18 and having neurological detrusor overactivity. RESULTS: There is no significant difference of intradetrusor injection of botulinum toxin efficacy according to duration of urinary symptoms in the general neurologigal population (multiple sclerosis, spinal cord injury, spinal cord compression, ischemic pathology, infectious pathology) with the mean age being 46 years. On the contrary, the length of evolution of neurological detrusor overactivity symptoms before the intradetrusor botox injection therapy and the efficiency of the first intradetrusor injection of botulinum toxin seem to be correlated with negative results in patients with multiple sclerosis. CONCLUSIONS: The duration of urinary symptoms is a predictive factor of primary failure of intradetrusor injection of botulinum toxin in multiple sclerosis patients, in univariate analysis.


Assuntos
Inibidores da Liberação da Acetilcolina/uso terapêutico , Toxinas Botulínicas Tipo A/administração & dosagem , Bexiga Urinaria Neurogênica/tratamento farmacológico , Bexiga Urinária Hiperativa/tratamento farmacológico , Administração Intravesical , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Resultado do Tratamento
10.
Prog Urol ; 24(17): 1093-8, 2014 Dec.
Artigo em Francês | MEDLINE | ID: mdl-25458739

RESUMO

UNLABELLED: The difficulty to access to the urethral meatus is found in women in relation to morphological abnormalities of urogenital or ectopic locations meatus, whether acquired (urethral meatus buried [UMB]) or congenital reality (urethra hypospadias [UH]). The pathophysiology is not unequivocal with lack of clear and specific studies. PURPOSE: Verify the existence of specific functional problems, assess the prevalence and identify the anatomical features of UMB and UH. MATERIALS: UMB and UH were sought in a computerized database listing the patients attending a neurourology department between 2000 and 2014 for a pelvic-perineal disease. Each case was analysed for specific reached leaks, urinary tract infections and difficulties catheterization. RESULTS: Of the 12,739, 131 patients (1%) met the inclusion criteria, including 18 UH and 113 UMB. Ninety-one patients consulted for urinary disorders of neurological origin. The circumstances of UMB and UH discovery were: perineal systematic review in 63 cases (48%); difficulties of urethral catheterization in 65 cases (49%); urinary incontinence for 3 patients (3%). Urinary tract infections have not led to the discovery of UMB or UH. Difficulties locating the urethral meatus were congenital (UH) in 18 cases (13%). In 113 cases (87%), it was an acquired abnormality (UMB) overweight for 16 patients (12%), troublesome spasticity of the adductor muscles in 18 cases (14%), vulvovaginal atrophy in 5 cases (4%) and a patient (1%) with a pelvic organ prolapse. No details were given for the remaining 72 patients (54%). CONCLUSION: The urethral meatus difficult access due to MUE or UH can be met in a specialized service but the exact concept of MUE be defined. It can be considered as urethral meatus difficult to access and the cause is acquired. Functional impairment may be particularly important in patients requiring catheterization for bladder emptying. LEVEL OF EVIDENCE: 4.


Assuntos
Hipospadia/complicações , Uretra/anormalidades , Transtornos Urinários/etiologia , Atrofia , Cistoscopia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Sobrepeso/complicações , Prevalência , Estudos Retrospectivos , Cateterismo Urinário/efeitos adversos , Urodinâmica , Vagina/patologia , Vulva/patologia
11.
Prog Urol ; 24(10): 651-7, 2014 Sep.
Artigo em Francês | MEDLINE | ID: mdl-25214295

RESUMO

PURPOSE: The lazy bladder syndrome (LBS) is characterized by an infrequent voiding, a large bladder capacity without neurological or urological disorders. In spite of being relatively common, there is little literature about it. The aim of our study was to compare the clinical features and urodynamic findings in asymptomatic or symptomatic patients with lazy bladder syndrome. PATIENTS AND METHODS: We reviewed the charts of 126 adult patients diagnosed with lazy bladder syndrome. Clinical and radiological features, urodynamic findings and therapeutic management were evaluated. With these data, we divided patients into 2 groups: asymptomatic and symptomatic patients. After, we performed a comparative analysis of the data. RESULTS: The incident of LBS was significantly higher in women (81%). Twenty-one patients were asymptomatic (17%), 105 patients were symptomatic (83%). The patients with symptomatic LBS were significantly older (54.3 years ± 14.7). Voiding dysfunction (53%) and urinary retention (27%) were the most common symptoms in symptomatic group. In the uroflowmetry test, maximum and mean uroflow were significantly higher in asymptomatic group (P=0.0074). Reduced bladder sensation revealed no difference in the 2 groups, but in the symptomatic group, detrusor has also a poor contractility (P=0.0001). Nineteen patients (18%) had uro-nephrological complications. CONCLUSION: LBS is certainly underestimated. Voiding dysfunction, urinary retention in infrequent voiders or uro-nephrological complication (urinary tract infection with fever, ureteral reflux…) should recall LBS diagnosis. The hypothesis of bladder structural failure or autonomic nervous system dysfunction may be discussed (suggested). LEVEL OF EVIDENCE: 5.


Assuntos
Estudos Retrospectivos , Doenças da Bexiga Urinária/congênito , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Síndrome , Doenças da Bexiga Urinária/diagnóstico , Adulto Jovem
12.
Prog Urol ; 24(12): 744-9, 2014 Oct.
Artigo em Francês | MEDLINE | ID: mdl-25199730

RESUMO

INTRODUCTION: For the last ten years, botulinum neurotoxin type A has become the gold standard for the treatment of neurogenic overactive detrusor. Bacterial colonization is common for these patients using clean intermittent self-catheterization, and toxin injections are at risk of urinary tract infections. OBJECTIVES: The aim of our study was to determine the prevalence of different germs and their resistance to antibiotics in patients with neurogenic bladder, treated with intravesical botulinum toxin injections. MATERIAL AND METHOD: This epidemiologic study took place from September to October 2012 in a urodynamic and neurourology unit in a teaching hospital in Paris, France. RESULTS: Eighty patients with a valid urine culture according to our protocol, were included. Fourty-four culture were positive with 45 bacteria. We found an Escherichia coli in 42.5%, a Klebsiella pneumoniae in 7.5%, a Citrobacter freundii and an enterococcus in 2.5%, and a Staphylococcus aureus in 1.25%. Penicillin resistance were found in 51.11%, 3rd generation cephalosporins in 8.89%, quinolones in 28.89% and sulfamids in 24.44%. None were resistant to fosfomycin. CONCLUSION: E. coli was the most frequent bacterium. No resistance to fosfomycin was found.


Assuntos
Toxinas Botulínicas Tipo A/administração & dosagem , Fármacos Neuromusculares/administração & dosagem , Bexiga Urinária Hiperativa/tratamento farmacológico , Bexiga Urinária Hiperativa/microbiologia , Bexiga Urinária/microbiologia , Administração Intravesical , Farmacorresistência Bacteriana , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos
13.
Ann Phys Rehabil Med ; 57(3): 159-68, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24680634

RESUMO

AIMS: In neurourology, the choice of catheter is of paramount importance. At the time of our study, no simple validated questionnaire has been published, evaluating patient satisfaction with the use of urinary catheters. Our objective was to construct and validate a specific tool referred to as the Intermittent Catheterization Satisfaction Questionnaire (InCaSaQ), for the purposes of evaluating patient satisfaction with intermittent self-catheterization. METHODS: A simple tool was developed and validated in a neurourology referral centre, with 113 patients affected by a neurological bladder condition, between November 2011 and February 2012. Eight items, separated into four categories ("packaging", "lubrication", "catheter itself", "after catheterization") were selected. The mean score obtained with the eight-question questionnaire was calculated for each patient. Face validity was evaluated. Reliability based on internal consistency and test-retest reliability using the intraclass correlation coefficient (ICC) was carried out. RESULTS: The patients' comprehension and acceptance of the questionnaire were good. The questionnaire appears to have been well designed, with a significant Cronbach's alpha coefficient, and the ICC demonstrated good test-retest reliability. CONCLUSIONS: The InCaSaQ was found to be a valid tool for the evaluation of patient satisfaction with a urinary catheter. It is thus possible to compare the comfort and effectiveness of different types of catheter, and to objectify the need to change the type of catheter, in cases where patients express their dissatisfaction.


Assuntos
Cateterismo Uretral Intermitente , Satisfação do Paciente , Inquéritos e Questionários , Cateteres Urinários , Adolescente , Adulto , Idoso , Feminino , Humanos , Cateterismo Uretral Intermitente/psicologia , Masculino , Pessoa de Meia-Idade , Psicometria , Reprodutibilidade dos Testes , Autocuidado , Bexiga Urinaria Neurogênica/terapia , Adulto Jovem
14.
Horm Res Paediatr ; 80(6): 457-65, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24335096

RESUMO

BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome associated with an increased risk of pediatric tumors. The underlying molecular abnormalities may be genetic (CDKN1C mutations or 11p15 paternal uniparental isodisomy, pUPD) or epigenetic (imprinting center region 1, ICR1, gain of methylation, ICR1 GOM, or ICR2 loss of methylation, ICR2 LOM). AIM: We aimed to describe a cohort of 407 BWS patients with molecular defects of the 11p15 domain followed prospectively after molecular diagnosis. RESULTS: Birth weight and length were significantly higher in patients with ICR1 GOM than in the other groups. ICR2 LOM and CDKN1C mutations were associated with a higher prevalence of exomphalos. Mean adult height (regardless of molecular subtype, n = 35) was 1.8 ± 1.2 SDS, with 18 patients having a final height above +2 SDS. The prevalence of tumors was 8.6% in the whole population; 28.6 and 17.3% of the patients with ICR1 GOM (all Wilms tumors) and 11p15 pUPD, respectively, developed a tumor during infancy. Conversely, the prevalence of tumors in patients with ICR2 LOM and CDKN1C mutations were 3.1 and 8.8%, respectively, with no Wilms tumors. CONCLUSION: Based on these results for a large cohort, we formulated guidelines for the follow-up of these patients according to the molecular subtype of BWS.


Assuntos
Síndrome de Beckwith-Wiedemann/complicações , Transformação Celular Neoplásica/genética , Desenvolvimento Infantil , Monitorização Fisiológica/normas , Neoplasias/etiologia , Adulto , Síndrome de Beckwith-Wiedemann/epidemiologia , Síndrome de Beckwith-Wiedemann/genética , Síndrome de Beckwith-Wiedemann/fisiopatologia , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Predisposição Genética para Doença , Humanos , Lactente , Recém-Nascido , Masculino , Monitorização Fisiológica/métodos , Neoplasias/epidemiologia , Neoplasias/genética , Guias de Prática Clínica como Assunto , Prevalência , Fatores de Risco , Transdução de Sinais/genética
15.
Prog Urol ; 23(8): 524-9, 2013 Jun.
Artigo em Francês | MEDLINE | ID: mdl-23725583

RESUMO

PURPOSE: To compare autonomic nervous system cardiovascular tests (ANSCVT) and lacrymal and or salivary secretion tests (LSST). METHOD: One hundred and twenty-four patients (57 females, 67 males, mean age 45) with lower urinary tract symptoms (overactive bladder syndrome or voiding dysfunction) without neurogenic or urological causes, were included. Urodynamic was performed in all the patients with LSST (saliva flowmetry-sialometry [SFS], candy weight-loss test [CWT], Schirmer test [SchT]) and ANSCVT (ratio 30:15, orthostatic hypotension analysis, deep breath test [DBT], Valsalva maneuver [VM], cold pressor test [CPT] and hand grip test [HGT]). RESULTS: In eight cases, ANSCVT were altered (four in OAB syndrome, four in voiding dysfunction). No correlation was found between positive ANSCVT and LSST (P=0.72 for CWT, P=1 for SFS, P=0.1 for SchT). In contrary, there is a significant correlation between SchT and CWT (P=0.049), but not between SchT and SFS (P=0.69) or SFS vs CWT (P=0.06). CONCLUSION: In this series LSST were not sufficient to track down autonomic nervous system alterations and ANSCVT always necessary. Autonomic dysfunctions were infrequent in OAB syndrome and "idiopathic" voiding dysfunctions (6.5%).


Assuntos
Sistema Nervoso Autônomo/fisiopatologia , Aparelho Lacrimal/metabolismo , Saliva/metabolismo , Bexiga Urinária Hiperativa/fisiopatologia , Transtornos Urinários/fisiopatologia , Adolescente , Adulto , Idoso , Técnicas de Diagnóstico Cardiovascular , Técnicas de Diagnóstico Neurológico , Feminino , Força da Mão , Humanos , Masculino , Pessoa de Meia-Idade , Mecânica Respiratória , Urodinâmica/fisiologia , Manobra de Valsalva , Adulto Jovem
16.
Diabetes Metab ; 39(2): 163-8, 2013 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-23159804

RESUMO

AIM: The objective of this study was to investigate low-grade inflammation in children with type 1 diabetes (T1D) and its association with cortisol levels as well as its bioavailability through 11ß-hydroxy steroid dehydrogenase type 1 (11ß-HSD1) activity. METHODS: Children with T1D (n=45) and their non-diabetic siblings (n=28) participated in the study. Interleukin-6 (IL-6) and high-sensitivity C-reactive protein (CRPhs) were measured between 1400 and 1800h. Glucocorticoid metabolites were measured in the first morning urine on clinic day and 11ß-HSD1 activity was estimated by tetrahydrocortisol/tetrahydrocortisone (THF/THE) ratio. RESULTS: Diabetic patients presented with an increased THF/THE ratio compared with controls (median: 0.68 [range: 0.45-1.18] vs 0.45 [0.27-0.98], respectively; P<10(-3)). There was no difference between diabetic patients and controls for IL-6 (0.6ng/mL [0.6-6.8] vs 0.6 [0.6-2.2], respectively; P=0.43) and CRPhs (0.4mg/L [0-7.4] vs 0.3 [0-8.2]; P=0.26, respectively). When adjusted for age, gender and BMI, the THF/THE ratio was significantly associated with CRPhs (ß=0.32, P=0.02) in diabetic patients, but not in controls. CONCLUSION: Low-grade inflammation assessed by plasma CRPhs and IL-6 concentrations was not detectable in our cohort of T1D children. Nocturnal 11ß-HSD1 activity was increased and associated with plasma CRPhs concentration in diabetic patients. These results may be explained by either a direct or inflammation-mediated effect of the relative hepatic lack of insulin due to subcutaneous insulin therapy.


Assuntos
11-beta-Hidroxiesteroide Desidrogenase Tipo 1/sangue , Proteína C-Reativa/metabolismo , Diabetes Mellitus Tipo 1/sangue , Hidrocortisona/sangue , Insulina/sangue , Interleucina-6/sangue , Adolescente , Biomarcadores/sangue , Criança , Pré-Escolar , Diabetes Mellitus Tipo 1/epidemiologia , Diabetes Mellitus Tipo 1/imunologia , Feminino , França/epidemiologia , Glucocorticoides , Humanos , Hipoglicemiantes/administração & dosagem , Inflamação/sangue , Injeções Subcutâneas , Insulina/administração & dosagem , Masculino , Irmãos , Fatores de Tempo
17.
Prog Urol ; 22(8): 482-6, 2012 Jul.
Artigo em Francês | MEDLINE | ID: mdl-22732584

RESUMO

OBJECTIVE: To assess the flow rate obtained by catheters used in self intermittent catheterization. MATERIAL: In vitro comparative study designed to compare the average flow rate obtained by intravesical catheters, by repeated flowmetric measures. The catheters studied were the most used in France in Fr10, 12 and 14 for female catheters and in Fr12, 14 and 16 for male catheters. RESULTS: We observed a strict relationship between Charriere and flow rate, both in female and male catheters These results were statistically significant (P<0.05). For female catheters, the average flow rate varied from 2.83 to 3.7 mL/s for Fr10 catheters, from 4.31 to 5.35 mL/s for Fr12 catheters and from 7.00 to 7.85 mL/s for Fr14 catheters (P<0.05). For male catheters, the average flow rate varied from 4.53 to 5.00 mL/s for Fr12 catheters, from 6.95 to 8.17 mL/s for Fr14 catheters and from 10.4 to 11.07 mL/s for Fr16 catheters (P<0.05). In female and male population, despite the observed flow rate differences between catheters, there were no statistically significant differences. CONCLUSION: This study demonstrated a better flow rate when Charriere increases. Thus, an objective adaptation of self catheterization's materiel is possible when the patient wishes to improve flow rate in order to reduce self intermittent catheterization duration.


Assuntos
Catéteres , Cateterismo Urinário , Micção/fisiologia , Desenho de Equipamento , Feminino , Humanos , Masculino , Reologia , Autocuidado
19.
Arch Pediatr ; 13(8): 1132-4, 2006 Aug.
Artigo em Francês | MEDLINE | ID: mdl-16797947

RESUMO

We report a rare case of mother-infant pair with Staphylococcal Toxic Shock Syndrome (TSS). A term neonate was born by caesarean section for maternal septic syndrome during per-partum. He presented with respiratory distress complicated by pulmonary hypertension, skin rash, and multiple organ system involvement. Staphylococcus aureus was isolated from placenta, surface swabs and gastric aspirate. He received adapted antibiotics, respiratory support by high frequency ventilation and NO. The mother had shock, skin rash and inflammatory syndrome. Outcome was good in both cases. The isolate produced enterotoxin C and L. Shock, exanthematous disease and multi-organ involvement complicating a staphylococcal infection in neonate must lead to suspect a TSS.


Assuntos
Corioamnionite/diagnóstico , Transmissão Vertical de Doenças Infecciosas , Complicações Infecciosas na Gravidez/diagnóstico , Choque Séptico/transmissão , Antibacterianos/uso terapêutico , Quimioterapia Combinada , Enterotoxinas/isolamento & purificação , Feminino , Humanos , Recém-Nascido , Masculino , Gravidez , Complicações Infecciosas na Gravidez/tratamento farmacológico , Choque Séptico/diagnóstico , Choque Séptico/tratamento farmacológico , Staphylococcus aureus/isolamento & purificação , Resultado do Tratamento
20.
Dis Aquat Organ ; 46(2): 139-45, 2001 Sep 12.
Artigo em Inglês | MEDLINE | ID: mdl-11678229

RESUMO

Juvenile oysters Crassostrea gigas cultured in the Bay of Morlaix (France) have suffered unexplained summer mortalities for over a decade. In the present study, we tested the hypothesis that a bacterial pathogen could be responsible for this phenomenon. A first attempt failed to isolate a bacterial pathogen from moribund or weak oysters. Only non-pathogenic, probably opportunistic, bacteria were isolated. As an alternative approach, we focused on oysters presenting reduced stress-response capacities (determined by circulating noradrenaline measurements), a characteristic of juvenile oysters entering an early phase of the disease. Cultures of bacterial isolates on TCBS plates revealed that a Vibrio strain was present in diseased oysters and scarce or absent in healthy oysters. Experimental infections indicated that this Vibrio can cause mortalities of juvenile oysters when injected at concentrations ranging from 10(4) to 10(8) CFU oyster(-1). Similarly to the summer mortality disease, the Vibrio isolate caused higher mortalities at higher temperatures; apparently, it could not be transmitted horizontally, it did not affect adult oysters and it induced stress-response dysfunctions in juvenile oysters. Phenotypic and genotypic characterizations identified the pathogen as Vibrio splendidus. Taken together, the present results satisfy Koch's postulate and suggest that this bacterial strain is probably responsible for the juvenile oyster summer mortalities in the Bay of Morlaix.


Assuntos
Ostreidae/microbiologia , Vibrio/patogenicidade , Fatores Etários , Animais , Contagem de Colônia Microbiana , França , Amplificação de Genes , Genótipo , Mortalidade , Norepinefrina/análise , Fenótipo , Reação em Cadeia da Polimerase/veterinária , Estações do Ano , Análise de Sequência de DNA , Temperatura , Fatores de Tempo , Vibrio/classificação , Vibrio/genética
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