Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 167
Filtrar
Mais filtros

Base de dados
País/Região como assunto
Tipo de documento
Intervalo de ano de publicação
1.
Mol Psychiatry ; 26(7): 3572-3585, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-33867523

RESUMO

Among the genetic factors playing a key role in the etiology of intellectual disabilities (IDs) and autism spectrum disorders (ASDs), several encode RNA-binding proteins (RBPs). In this study, we deciphered the molecular and cellular bases of ID-ASD in a patient followed from birth to the age of 21, in whom we identified a de novo CSDE1 (Cold Shock Domain-containing E1) nonsense variation. CSDE1 encodes an RBP that regulates multiple cellular pathways by monitoring the translation and abundance of target transcripts. Analyses performed on the patient's primary fibroblasts showed that the identified CSDE1 variation leads to haploinsufficiency. We identified through RNA-seq assays the Wnt/ß-catenin signaling and cellular adhesion as two major deregulated pathways. These results were further confirmed by functional studies involving Wnt-specific luciferase and substrate adhesion assays. Additional data support a disease model involving APC Down-Regulated-1 (APCDD1) and cadherin-2 (CDH2), two components of the Wnt/ß-catenin pathway, CDH2 being also pivotal for cellular adhesion. Our study, which relies on both the deep phenotyping and long-term follow-up of a patient with CSDE1 haploinsufficiency and on ex vivo studies, sheds new light on the CSDE1-dependent deregulated pathways in ID-ASD.


Assuntos
Transtorno do Espectro Autista , Proteínas de Ligação a DNA , Deficiência Intelectual , Proteínas de Ligação a RNA , Via de Sinalização Wnt , Adolescente , Transtorno do Espectro Autista/genética , Adesão Celular/genética , Criança , Pré-Escolar , Proteínas de Ligação a DNA/genética , Humanos , Lactente , Recém-Nascido , Deficiência Intelectual/genética , Proteínas de Ligação a RNA/genética , Adulto Jovem , beta Catenina/genética
2.
Br J Dermatol ; 180(6): 1438-1448, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30417923

RESUMO

BACKGROUND: Data on dermatological manifestations of Noonan syndrome (NS) remain heterogeneous and are based on limited dermatological expertise. OBJECTIVES: To describe the dermatological manifestations of NS, compare them with the literature findings, and test for dermatological phenotype-genotype correlations with or without the presence of PTPN11 mutations. METHODS: We performed a large 4-year, prospective, multicentric, collaborative dermatological and genetic study. RESULTS: Overall, 129 patients with NS were enrolled, including 65 patients with PTPN11-NS, 34 patients with PTPN11-NS with multiple lentigines (NSML), and 30 patients with NS who had a mutation other than PTPN11. Easy bruising was the most frequent dermatological finding in PTPN11-NS, present in 53·8% of patients. Multiple lentigines and café-au-lait macules (n ≥ 3) were present in 94% and 80% of cases of NSML linked to specific mutations of PTPN11, respectively. Atypical forms of NSML could be associated with NS with RAF1 or NRAS mutations. In univariate analysis, patients without a PTPN11 mutation showed (i) a significantly higher frequency of keratinization disorders (P = 0·001), including keratosis pilaris (P = 0·005), ulerythema ophryogenes (P = 0·0001) and palmar and/or plantar hyperkeratosis (P = 0·06, trend association), and (ii) a significantly higher frequency of scarce scalp hair (P = 0·035) and scarce or absent eyelashes (P = 0·06, trend association) than those with PTPN11 mutations. CONCLUSIONS: The cutaneous phenotype of NS with a PTPN11 mutation is generally mild and nonspecific, whereas the absence of a PTPN11 mutation is associated with a high frequency of keratinization disorders and hair abnormalities.


Assuntos
Estudos de Associação Genética , Síndrome de Noonan/complicações , Proteína Tirosina Fosfatase não Receptora Tipo 11/genética , Dermatopatias/genética , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Análise Mutacional de DNA , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Mutação , Síndrome de Noonan/genética , Fenótipo , Estudos Prospectivos , Adulto Jovem
3.
Br J Dermatol ; 180(1): 172-180, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30141192

RESUMO

BACKGROUND: Data on dermatological manifestations of cardiofaciocutaneous syndrome (CFCS) remain heterogeneous and almost without expert dermatological classification. OBJECTIVES: To describe the dermatological manifestations of CFCS; to compare them with the literature findings; to assess those discriminating CFCS from other RASopathies, including Noonan syndrome (NS) and Costello syndrome (CS); and to test for dermatological phenotype-genotype correlations. METHODS: We performed a 4-year, large, prospective, multicentric, collaborative dermatological and genetic study. RESULTS: Forty-five patients were enrolled. Hair abnormalities were ubiquitous, including scarcity or absence of eyebrows and wavy or curly hair in 73% and 69% of patients, respectively. Keratosis pilaris (KP), ulerythema ophryogenes (UO), palmoplantar hyperkeratosis (PPHK) and multiple melanocytic naevi (MMN; over 50 naevi) were noted in 82%, 44%, 27% and 29% of patients, respectively. Scarcity or absence of eyebrows, association of UO and PPHK, diffuse KP and MMN best differentiated CFCS from NS and CS. Oral acitretin may be highly beneficial for therapeutic management of PPHK, whereas treatment of UO by topical sirolimus 1% failed. No significant dermatological phenotype-genotype correlation was determined. CONCLUSIONS: A thorough knowledge of CFCS skin manifestations would help in making a positive diagnosis and differentiating CFCS from CS and NS.


Assuntos
Displasia Ectodérmica/diagnóstico , Insuficiência de Crescimento/diagnóstico , Cardiopatias Congênitas/diagnóstico , Acitretina/administração & dosagem , Administração Cutânea , Administração Oral , Adolescente , Criança , Pré-Escolar , Síndrome de Costello/diagnóstico , Diagnóstico Diferencial , Displasia Ectodérmica/tratamento farmacológico , Displasia Ectodérmica/genética , Fácies , Insuficiência de Crescimento/tratamento farmacológico , Insuficiência de Crescimento/genética , Feminino , França , Estudos de Associação Genética , Cardiopatias Congênitas/tratamento farmacológico , Cardiopatias Congênitas/genética , Humanos , MAP Quinase Quinase 1/genética , MAP Quinase Quinase 2/genética , Masculino , Mutação , Síndrome de Noonan/diagnóstico , Estudos Prospectivos , Proteínas Proto-Oncogênicas B-raf/genética , Sirolimo/administração & dosagem , Resultado do Tratamento , Adulto Jovem
4.
Prog Urol ; 25(3): 115-27, 2015 Mar.
Artigo em Francês | MEDLINE | ID: mdl-25605342

RESUMO

PURPOSE: The aim of this review is to discuss the negative effects on sexual function of medications for lower urinary tract symptoms secondary to benign prostatic hyperplasia (LUTS-BPH). METHODS: An international non-systematic literature review was performed. It included randomized trials of seven drugs of interest and the summaries of the characteristics of these products. This work did not aim comparison between the drugs. RESULTS: Only maximal reported frequencies are presented in this abstract. With prolonged-release alfuzosin, they were 2.8% vs. 1.3% for erectile dysfunction, compared to placebo and 1% vs. 0% for ejaculatory dysfunction. With doxazosin, the incidence was 5.8% vs. 3.3% for erectile dysfunction, 3.6% vs. 1.9% for reduced libido and 0.4% vs. 1.4% for ejaculatory disorders. The incidence of ejaculatory disorders with tamsulosin, was 11% vs. <1% with the placebo and with silodosin, it was 28.1% vs. 1.1%. With finasteride, at 12 months, the highest frequency was 9% vs. 5% for erectile dysfunction, 4.4% vs. 1.5% for ejaculatory disorders and 6.4% vs. 3.4% for reduced libido. At 24 months, for dutatsteride, frequencies were 7.3% vs. 4.0% for erectile dysfunction, 2.2% vs. 0.8% for ejaculatory disorders and 4.2% vs. 2.1% for reduced libido. For tadalafil, a phosphodiesterase-5 inhibitor, and tolerodine, an anticholinergic drug, no negative effect on ejaculation or libido has been reported. For plant extracts, no sexual adverse effects (AEs) were reported among the most common AEs. CONCLUSION: The medications for LUTS-BPH may alter erection, ejaculation or libido. A greater knowledge of the adverse effects of each of these drugs could guide physicians in the clinical management of men with BPH-LUTS.


Assuntos
Sintomas do Trato Urinário Inferior/tratamento farmacológico , Disfunções Sexuais Fisiológicas/induzido quimicamente , Antagonistas Adrenérgicos alfa/efeitos adversos , Humanos , Sintomas do Trato Urinário Inferior/etiologia , Masculino , Hiperplasia Prostática/complicações
5.
Clin Genet ; 86(4): 326-34, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-24033328

RESUMO

Anophthalmia and microphthalmia (AM) are the most severe malformations of the eye, corresponding respectively to reduced size or absent ocular globe. Wide genetic heterogeneity has been reported and different genes have been demonstrated to be causative of syndromic and non-syndromic forms of AM. We screened seven AM genes [GDF6 (growth differentiation factor 6), FOXE3 (forkhead box E3), OTX2 (orthodenticle protein homolog 2), PAX6 (paired box 6), RAX (retina and anterior neural fold homeobox), SOX2 (SRY sex determining region Y-box 2), and VSX2 (visual system homeobox 2 gene)] in a cohort of 150 patients with isolated or syndromic AM. The causative genetic defect was identified in 21% of the patients (32/150). Point mutations were identified by direct sequencing of these genes in 25 patients (13 in SOX2, 4 in RAX, 3 in OTX2, 2 in FOXE3, 1 in VSX2, 1 in PAX6, and 1 in GDF6). In addition eight gene deletions (five SOX2, two OTX2 and one RAX) were identified using a semi-quantitative multiplex polymerase chain reaction (PCR) [quantitative multiplex PCR amplification of short fluorescent fragments (QMPSF)]. The causative genetic defect was identified in 21% of the patients. This result contributes to our knowledge of the molecular basis of AM, and will facilitate accurate genetic counselling.


Assuntos
Anoftalmia/genética , Heterogeneidade Genética , Microftalmia/genética , Mutação Puntual/genética , Adolescente , Adulto , Anoftalmia/diagnóstico , Anoftalmia/patologia , Criança , Pré-Escolar , Proteínas do Olho/genética , Feminino , Fatores de Transcrição Forkhead/genética , Fator 6 de Diferenciação de Crescimento/genética , Proteínas de Homeodomínio/genética , Humanos , Lactente , Masculino , Microftalmia/diagnóstico , Microftalmia/patologia , Fatores de Transcrição Otx/genética , Fator de Transcrição PAX6 , Fatores de Transcrição Box Pareados/genética , Proteínas Repressoras/genética , Fatores de Transcrição SOXB1/genética , Fatores de Transcrição/genética
6.
Artigo em Inglês | MEDLINE | ID: mdl-38842039

RESUMO

BACKGROUND: Sedation, ranging from minimal, moderate and deep sedation to general anesthesia, improves patient comfort and procedure quality in gastrointestinal endoscopy (GIE). There are currently no comprehensive recommendations on sedation practice in diagnostic and therapeutic GIE. We aimed to investigate real-life sedation practice in elective GIE. METHODS: We performed a multicentric observational study across 14 Endoscopy Units in Italy. We recorded consecutive data on all diagnostic procedures performed with Anesthesiologist-directed care (ADC) and all therapeutic procedures performed with ADC or non-Anesthesiologist sedation (NAS) over a three-month period. RESULTS: Dedicated ADC is available five days/week in 28.6% (4/14), four days/week in 21.5% (3/14), three days/week in 35.7% (5/14), two days/week in 7.1% (1/14) and one day/week in 7.1% (1/14) of participating Centers. ADC use for elective diagnostic GIE varied from 18.2% to 75.1% of the total number of procedures performed with ADC among different Centers. ADC use for elective therapeutic GIE varied from 10.8% to 98.9% of the total number of elective therapeutic procedures performed among different Centers. CONCLUSIONS: Our study highlights the lack of standardization and consequent great variability in sedation practice for elective GIE, with ADC being potentially overused for diagnostic procedures and underused for complex therapeutic procedures. A collaborative effort involving Endoscopists, Anesthesiologist and Institutions is needed to optimize sedation practice in GIE.

7.
J Immunol ; 187(12): 6447-55, 2011 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-22079982

RESUMO

Although NLRC4/IPAF activation by flagellin has been extensively investigated, the downstream signaling pathways and the mechanisms responsible for infection clearance remain unclear. In this study, we used mice deficient for the inflammasome components in addition to wild-type (WT) Legionella pneumophila or bacteria deficient for flagellin (flaA) or motility (fliI) to assess the pathways responsible for NLRC4-dependent growth restriction in vivo and ex vivo. By comparing infections with WT L. pneumophila, fliI, and flaA, we found that flagellin and motility are important for the colonization of the protozoan host Acanthamoeba castellanii. However, in macrophages and mammalian lungs, flagellin expression abrogated bacterial replication. The flagellin-mediated growth restriction was dependent on NLRC4, and although it was recently demonstrated that NLRC4 is able to recognize bacteria independent of flagellin, we found that the NLRC4-dependent restriction of L. pneumophila multiplication was fully dependent on flagellin. By examining infected caspase-1(-/-) mice and macrophages with flaA, fliI, and WT L. pneumophila, we could detect greater replication of flaA, which suggests that caspase-1 only partially accounted for flagellin-dependent growth restriction. Conversely, WT L. pneumophila multiplied better in macrophages and mice deficient for NLRC4 compared with that in macrophages and mice deficient for caspase-1, supporting the existence of a novel caspase-1-independent response downstream of NLRC4. This response operated early after macrophage infection and accounted for the restriction of bacterial replication within bacteria-containing vacuoles. Collectively, our data indicate that flagellin is required for NLRC4-dependent responses to L. pneumophila and that NLRC4 triggers caspase-1-dependent and -independent responses for bacterial growth restriction in macrophages and in vivo.


Assuntos
Acanthamoeba castellanii/microbiologia , Proteínas Reguladoras de Apoptose/metabolismo , Proteínas de Ligação ao Cálcio/metabolismo , Proteínas de Transporte/fisiologia , Flagelos/imunologia , Legionella pneumophila/crescimento & desenvolvimento , Legionella pneumophila/imunologia , Macrófagos/imunologia , Macrófagos/microbiologia , Acanthamoeba castellanii/enzimologia , Acanthamoeba castellanii/imunologia , Animais , Proteínas Reguladoras de Apoptose/deficiência , Proteínas Reguladoras de Apoptose/genética , Carga Bacteriana/imunologia , Proteínas de Bactérias/genética , Células da Medula Óssea/enzimologia , Células da Medula Óssea/imunologia , Células da Medula Óssea/microbiologia , Proteínas de Ligação ao Cálcio/deficiência , Proteínas de Ligação ao Cálcio/genética , Proteínas de Transporte/genética , Linhagem Celular , Feminino , Flagelos/enzimologia , Flagelos/genética , Flagelina/biossíntese , Flagelina/genética , Inflamassomos/deficiência , Inflamassomos/genética , Legionella pneumophila/genética , Locomoção/imunologia , Macrófagos/enzimologia , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Knockout , Proteína 3 que Contém Domínio de Pirina da Família NLR , ATPases Translocadoras de Prótons/genética , Transdução de Sinais/genética , Transdução de Sinais/imunologia
8.
Prog Urol ; 23(9): 811-21, 2013 Jul.
Artigo em Francês | MEDLINE | ID: mdl-23830276

RESUMO

INTRODUCTION: Screening, diagnosis and assessment of the management of male and female sexual dysfunctions have been greatly improved by the scientific development of self-administered questionnaires. Their use became the rule in clinical trials and epidemiological surveys. Nevertheless, their routine use has not yet become part of daily urological practice. Even if these tools replace neither the patient interview and medical history and the psychological and social context of the sexual behavior, nor clinical examination, they are of great assistance for determining management and are also highly reliable. METHODS: Medical literature was reviewed and combined with expert opinion of the author. RESULTS: We present here several questionnaires which have been validated in their French version with the methodology for the calculation of the scores. The International Index of Erectile Function (15 items) and two abbreviated versions, the Erectile Function domain (six items) and the Sexual Health Inventory for Men (five questions) are mainly of use for patients with erectile dysfunction. They provide a robust classification of the severity of the condition. The Premature Ejaculation Profile (four questions) is used for patients with premature ejaculation. It describes premature ejaculation with the following criteria: time to ejaculation, control over ejaculation, the level of distress. The Male Health Sexual Questionnaire (25 questions) provides with a wider and more comprehensive approach to male sexuality of male sexuality including: erection, ejaculation, desire and satisfaction. This questionnaire is particularly useful to investigate ejaculatory disorders. Lastly, the Female Sexual Function Index (19 questions) is the tool of choice for female sexuality with questions regarding desire, arousal, lubrication, orgasm, satisfaction and pain. CONCLUSION: Validated, user-friendly questionnaires are available in French language for the diagnosis and the follow-up of sexual dysfunctions in both men and women.


Assuntos
Sexologia , Disfunções Sexuais Fisiológicas/diagnóstico , Disfunções Sexuais Psicogênicas/diagnóstico , Inquéritos e Questionários , Disfunção Erétil/diagnóstico , Feminino , Humanos , Masculino , Sexualidade
9.
Prog Urol ; 23(9): 629-37, 2013 Jul.
Artigo em Francês | MEDLINE | ID: mdl-23830257

RESUMO

INTRODUCTION: Erectile dysfunction (ED) is the most commonly studied sexual disorder. ED is defined by a consistent or recurrent inability to attain and/or maintain penile erection sufficient for sexual activity. METHODS: Medical literature was reviewed and combined with expert opinion of the authors. RESULTS: A review of ED prevalence is less than 10% in men aged below 50, superior to 20% for men over 60. Age, cardiovascular diseases, diabetes, hypercholesterolemia, smoking, depression and psychiatric illness, psychological disorders, unfavorable socio-economic conditions are all risk factors for erectile dysfunction. Drug sexual side-effects must also be envisaged. Erectile dysfunction can be psychogenic, organic or a mix of both. The pathophysiological mechanisms are diverse and can implicate deterioration of the central or peripheral neural pathways, from the arterial supply to the penis, endothelial dysfunction, smooth muscle tone impairment, structural damage of the sinusoidal spaces of the erectile tissue, or even hormonal disorders. Psychological and sexological management can help some patients suffering from psychogenic erectile dysfunction, usually associated with pharmacological treatment. Phosphodiesterase type 5 inhibitors (PDE5i) on demand or daily are an efficient symptomatic treatment in two thirds of patients with all forms of erectile dysfunction. Diabetic patients, after radical prostatectomy and/or with severe cardiovascular diseases respond poorly to PDE5i. Intracavernous injections of PGE1 or vacuum pump provide second line treatment for most patients. Penile implants are third line treatment and when the indication is carefully established give excellent results. DISCUSSION: ED work-up and treatment are highly standardized. Therapeutic success rates are high.


Assuntos
Disfunção Erétil , Disfunção Erétil/diagnóstico , Disfunção Erétil/etiologia , Disfunção Erétil/fisiopatologia , Disfunção Erétil/terapia , Humanos , Masculino
10.
Prog Urol ; 23(9): 638-46, 2013 Jul.
Artigo em Francês | MEDLINE | ID: mdl-23830258

RESUMO

OBJECTIVES: Priapism is a rare condition for which urgent diagnosis and treatment is required. This paper reviews the literature regarding ischaemic, non-ischaemic and stuttering priapism in order to provide management recommendations. METHODS: A Medline search was carried out to identify all relevant papers with management guidelines for priapism and combined with expert opinion of the authors. RESULTS: Ischaemic priapism represents a compartment syndrome of the penis and urgent intervention is required to decrease the risk of erectile dysfunction. First line treatment is medical and associate cavernosal blood aspiration and sympathomimetic intracavernosal injection. Second line treatment is surgical by creating a cavernospongious shunt. Non-ischaemic priapism is not a medical emergency; however, it may need embolization of the arteriocavernosal fistula and result in erectile dysfunction. The treatment objective for stuttering priapism is to decrease episodes of prolonged erections with systemic treatments, while treating each acute episode as an emergency. CONCLUSIONS: Priapism is a potentially severe condition that requires urgent diagnosis and well-defined sequential management to prevent treatment delay, complications and irreversible erectile dysfunction.


Assuntos
Priapismo , Humanos , Masculino , Priapismo/diagnóstico , Priapismo/epidemiologia , Priapismo/fisiopatologia , Priapismo/terapia
11.
Prog Urol ; 23(9): 647-56, 2013 Jul.
Artigo em Francês | MEDLINE | ID: mdl-23830259

RESUMO

INTRODUCTION: Premature ejaculation (PE) is the most common masculine sexual disorder with a potentially deleterious effect on the patient's morale and the relationship with the partner. It is underdiagnosed, or self-diagnosed, and as patients hesitate to confide in their doctor, and doctors do not enquire about it, it is rarely treated. Effective medication does exist, in particular serotonin reuptake inhibitors. METHODS: Medical literature was reviewed and combined with expert opinion of the authors. RESULTS: The distinction is rarely made between lifelong, primary and acquired PE but this distinction determines the choice and efficacy of the therapeutic strategy. Originally seen from a psychoanalytical viewpoint, it was later seen from a behavioral angle. For primary PE, according to Kaplan and contemporary sexology, a psycho-sexological concept has been evoked: sinful stain and symbolic frustration of the woman following an unresolved conflict, revived by a conflict with the partner. For primary PE, a pathophysiological origin with the notion of genetic susceptibility with possible variation of the central serotoninergic neurotransmission has been suggested. We give here the different etiological hypotheses, the clinical types and the different therapeutic strategies for management of PE (a more precise etio-pathological diagnosis). Some key points are highlighted: factors related to the partner are underestimated, her 'use' as therapy is underexploited, an integrated or combined approach which is potentially more efficacious can go beyond the prolongation of the ejaculation time lapse to optimize the patient's relationship and equilibrium. Maintaining the results over time is however problematic. CONCLUSION: When rapid ejaculation causes a distress, it is a sexual dysfunction deserving medical and/or psycho-sexological management currently evidence-based.


Assuntos
Ejaculação Precoce , Algoritmos , Humanos , Masculino , Ejaculação Precoce/diagnóstico , Ejaculação Precoce/epidemiologia , Ejaculação Precoce/terapia
12.
Prog Urol ; 23(9): 804-10, 2013 Jul.
Artigo em Francês | MEDLINE | ID: mdl-23830275

RESUMO

INTRODUCTION: Sexual side effects of pharmacologiocal agents are not well known. METHODS: Medical literature was reviewed and combined with expert opinion of the authors. RESULTS: Confirmation of a drug iatrogenesis is made by intrinsic imputability based on the clinical history and extrinsic imputability based on published references. First ranking in the list of drugs responsible for adverse sexual effects in both sexes are the selective reuptake inhibitors (SSRI). They can cause erectile dysfunction and ejaculatory disorders, and in both sexes orgasmic and arousal disorders. Among the drugs whose mechanism is primordial are the neuroleptics firstly, among antalgics tramadol and strong opioid agonists are also potentially deleterious to different degrees on sexual function. Among antihypertensive drugs only thiazide diuretics increase the risk of erectile dysfunction. Among alpha blockers tamusolin and silodosin are frequently responsible for anejaculation. On a less serious level, 5α-reductase inhibitors are associated with sexual disorders in men treated for lower urinary tract symptoms (LUTS) linked to symptomatic benign prostatic hypertrophy. LH-RH antagonists and anti-androgens suppress desire in men, tamoxifen reduces this in women and can also cause dyspareunia and vaginal dryness. The drugs responsible for iatrogenic priapism are also described. A correlation between the pathology treated and the responsibility of the drug for sexual dysfunction can coexist. This is the case for depression, psychosis, hypertension, chronic pain and LUTS; sexual dysfunction is part of the clinical picture. CONCLUSION: Sexual side effects of pharmacological treatments are not unusual and must be systematically surveyed in men and women complaining about sexual dysfunction.


Assuntos
Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos , Disfunções Sexuais Fisiológicas/induzido quimicamente , Fármacos do Sistema Nervoso Central/efeitos adversos , Feminino , Humanos , Masculino , Doenças Prostáticas/tratamento farmacológico
13.
Prog Urol ; 23(9): 594-600, 2013 Jul.
Artigo em Francês | MEDLINE | ID: mdl-23830253

RESUMO

INTRODUCTION: The prevalence of sexual dysfunction in spinal cord injured (SCI) women is high. METHODS: Medical literature on sexuality in women with SCI was reviewed and combined with expert opinion of the authors. RESULTS: The physiology of the female sexual response including vasocongestion and muscular contractions occurring during sexual arousal and orgasm, and their innervation through somatosensory and autonomic pathways (pudendal, pelvic, hypogastric, vagus nerves) is described. Studies on women with SCI demonstrate the presence of a sacral reflex vasocongestion and/or thoracolumbar psychogenic vasocongestion. Fifty percent of women with SCI report orgasm, most often with genital stimulation, suggesting that an autonomic reflex response, but which can be perceived by vagus nerve transmission. Studies on sexual experience show that the frequency of sexual activities decreases, but interest for intercourse remains. More emphasis is placed on oral-genital stimulation, kisses, cuddling, caresses, fantasies, and erogenous stimulation above the lesion level. Sixty-nine percent of women with SCI report sexual satisfaction. Limitations concern positions during intercourse, spasticity, incontinence and autonomic dysreflexia. Alteration of the sexual sense of self and body image are also reported. Facilitating factors include education level, having a stable partner, occurrence of the lesion in adulthood, and increased posttraumatic delay. Treatment should emphasize neurological assessment of thoracolumbar sensitivity and presence of sacral reflexes. Sexual education should be encouraged during rehabilitation and cover the female sexual response, procreation and pregnancy (risks, prevention), along with precautions concerning various contraceptives. Treatment should include a refined assessment of perineal sensitivity to allow a mental image of the vulva, and trials with vibrostimulation and medication (PDEI5, midodrine) to maximize sexual responses and facilitate perception of sexual pleasure and orgasm. CONCLUSION: Management of sexual dysfunction in SCI women must be holistic and biopsychosocial.


Assuntos
Disfunções Sexuais Fisiológicas/etiologia , Sexualidade , Traumatismos da Medula Espinal/complicações , Feminino , Humanos , Disfunções Sexuais Fisiológicas/fisiopatologia , Disfunções Sexuais Fisiológicas/terapia , Sexualidade/fisiologia , Traumatismos da Medula Espinal/fisiopatologia
14.
Prog Urol ; 23(9): 657-63, 2013 Jul.
Artigo em Francês | MEDLINE | ID: mdl-23830260

RESUMO

INTRODUCTION: Disorders of ejaculation and orgasm apart from premature ejaculation are pretty uncommon. METHODS: Medical literature was reviewed and combined with expert opinion of the authors. RESULTS: The semiology of these disorders is essential: aspermia, hypospermia, retrograde ejaculation, delayed or absent ejaculation with or without orgasm. Whether this is a lifelong or acquired condition, it is essential to assess the side-effects of medications i.e. psychotropic drugs, including antidepressant, neuroleptics, tramadol, alphablockers: tamsulosin and silodosin must always be surveyed. CONCLUSION: The management is often difficult, especially with a parenthood perspective. The management of lifelong disorders must rely on psychosexual therapies.


Assuntos
Ejaculação , Disfunções Sexuais Psicogênicas , Algoritmos , Humanos , Masculino , Ejaculação Precoce , Disfunções Sexuais Psicogênicas/diagnóstico , Disfunções Sexuais Psicogênicas/etiologia , Disfunções Sexuais Psicogênicas/terapia
15.
Prog Urol ; 23(9): 712-7, 2013 Jul.
Artigo em Francês | MEDLINE | ID: mdl-23830265

RESUMO

INTRODUCTION: Neurological disorders affecting the brain, the spinal cord or the peripheral nervous system are frequently responsible for sexual disorders. Their impact can be major and could rank first in the concerns of patients with neurological handicap, particularly those who are paraplegic. METHODS: Medical literature was reviewed and combined with expert opinion of the authors. RESULTS: Sexual dysfunction can vary depending on the site of the lesion, its complete or incompleteness for the spinal cord, its natural history, the age of onset. Value of the data present in the literature varies depending on the pathology. Many neurological patients are on medication and an iatrogenic factor is not to be excluded when managing and understanding the physiopathology of sexual dysfunction. Clinical trials evaluating the efficacy of pharmacological treatments are often specific to one pathology. This means that extrapolating to other neurological disorders is difficult and could even be dangerous in the presence of orthostatic hypotension. Due to the vicinity of the spinal centers controlling bladder, sphincteric, anorectal and sexual functions the symptomatology is often mixed associating urinary, sexual and fecal disorders. The treatment of urinary incontinence and management of anorectal disorders should precede the treatment for sexual complaints. The existence of a sexual disorder can be of great help in the neurological diagnosis in certain contexts (extrapyramidal syndromes). We report the data from the literature concerning male sexual disorders in cases of acquired brain lesions (stroke, cranial trauma), extrapyramidal symptoms, medullar lesions, multiple sclerosis, peripheral lesions of the cauda equina or more distal. CONCLUSION: Sexual dysfunction must be part of the overall management of neurological patients.


Assuntos
Doenças do Sistema Nervoso/complicações , Disfunções Sexuais Fisiológicas/etiologia , Humanos , Masculino , Sexualidade
16.
Prog Urol ; 23(9): 547-61, 2013 Jul.
Artigo em Francês | MEDLINE | ID: mdl-23830249

RESUMO

Knowledge of the physiology of male and female sexuality has advanced considerably. Initially there is always desire with its biological neuroendocrine components and its emotional field which is particularly marked in women. There is a distinction between "spontaneous" sexual desire related to intrinsic affective, cognitive stimuli, and fantasies, and "reactive" sexual desire in response to physical arousal. There are similarities between men and women concerning the activation of cerebral zones in sexual arousal contexts in laboratory conditions. The neural pathways for sexual arousal are similar between men and women, bringing into play the sympathetic centres of the thoracic and lumbar spinal cord and, at the sacral level, the parasympathetic center and the motoneurons controlling the muscular contractions of the pelviperineal striated muscles. Genital sensitivity is mainly transmitted by the pudendal nerve in both men and women. Sexual arousal in men consists of penile erection, and ejaculation accompanied with orgasm. In women, sexual arousal causes increase in blood to flow to the vagina leading to lubrication and to the vulva leading to the erection of the clitoris and vulvar hyperaemia. The orgasm which can be multiple in women is accompanied by contractions of the striated perineal muscles. Several neurotransmitters are closely involved in the control of sexuality at the central level: dopamine, ocytocin, serotonin, and peripheral: nitric oxide and noradrenaline in men, vasoactive intestinal peptide and neuropeptide Y in women.


Assuntos
Sexualidade/fisiologia , Androgênios/fisiologia , Encéfalo/anatomia & histologia , Encéfalo/fisiologia , Ejaculação/fisiologia , Feminino , Genitália/anatomia & histologia , Genitália/fisiologia , Humanos , Libido/fisiologia , Masculino , Sistema Nervoso/anatomia & histologia , Fenômenos Fisiológicos do Sistema Nervoso , Orgasmo/fisiologia , Ereção Peniana/fisiologia , Comportamento Sexual
17.
Prog Urol ; 23(9): 696-711, 2013 Jul.
Artigo em Francês | MEDLINE | ID: mdl-23830264

RESUMO

INTRODUCTION: All treatments for prostate cancer have a negative impact on sexuality. The objective of this review is to highlight recent developments in the management of sexual dysfunction associated with prostate cancer. MATERIAL AND METHODS: We performed a literature search in the Pubmed database to select relevant articles. RESULTS: There is a specific profile of changes in the fields of sexual, urinary, bowel and general quality of life, according to the treatment modalities chosen. Maintenance of a satisfying sex life is a major concern of a majority of men facing prostate cancer and its treatments. It is essential to assess the couple's sexuality before treating prostate cancer in order to deliver comprehensive information and consider early therapeutic solutions adapted to the couple's expectations. The results of randomized studies show that robotic radical prostatectomy allows a faster recovery of natural erections compared to classic laparoscopy. Active pharmacological erectile rehabilitation (intracavernous injections or phosphodiesterase type 5 inhibitors [PDE5i] on demand, during the month following surgery) or passive (daily PDE5i after surgery) might improve the quality of erections especially in response to PDE5i. Unimpaired aspects of sexual response (orgasm) may, when the erection is not yet recovered, represent an alternative allowing the couple to preserve intimacy and complicity. Androgen blockade is a major barrier to maintain or return to a satisfying sex. CONCLUSION: After the treatment of prostate cancer, one specific support sometimes assisted by networking will optimize satisfying sex life recovery.


Assuntos
Neoplasias da Próstata/terapia , Disfunções Sexuais Fisiológicas/etiologia , Humanos , Masculino , Satisfação do Paciente , Disfunções Sexuais Fisiológicas/fisiopatologia , Disfunções Sexuais Fisiológicas/terapia , Sexualidade , Inquéritos e Questionários
18.
Prog Urol ; 23(5): 283-95, 2013 Apr.
Artigo em Francês | MEDLINE | ID: mdl-23545003

RESUMO

PURPOSE: The objective of this literature review was to report currently available clinical data on the effects of phosphodiesterase type 5 inhibitors (PDE5I) on lower urinary tract symptoms (LUTS) secondary to benign prostatic hyperplasia (BPH). METHODS: An international literature review was carried out in February 2012 from the Medline database (National Library of Medicine, United States). Studies on the effects of PDE5I on LUTS secondary to BPH published within the last 15 years (1997 to 2012) were extracted. In total, 12 studies were selected: four studies on sildenafil including one randomized, controlled, double-blind study; one randomized, controlled, double-blind study on vardenafil; and seven studies on tadalafil including five randomized, controlled, double-blind studies and a 1-year open-label extension study. RESULTS: PDE5Is significantly improve the overall international prostatic symptom score (IPSS) compared to placebo. Most often, the maximum urinary flow rate (Qmax) was not significantly increased versus placebo. A statistically significant improvement of Qmax was nevertheless observed in certain studies. CONCLUSION: The available clinical data assessing the efficacy of PDE5 inhibition in LUTS secondary to BPH are convincing. PDE5Is thus are a new therapeutic class in the treatment of this disease and are especially interesting in patients suffering from both LUTS and erectile dysfunction (ED), two frequently associated diseases.


Assuntos
Sintomas do Trato Urinário Inferior/tratamento farmacológico , Sintomas do Trato Urinário Inferior/etiologia , Inibidores da Fosfodiesterase 5/uso terapêutico , Hiperplasia Prostática/complicações , Carbolinas/uso terapêutico , Humanos , Masculino , Piperazinas/uso terapêutico , Purinas/uso terapêutico , Ensaios Clínicos Controlados Aleatórios como Assunto , Citrato de Sildenafila , Sulfonas/uso terapêutico , Tadalafila
19.
Artigo em Inglês | MEDLINE | ID: mdl-37389848

RESUMO

BACKGROUND: Colorectal lesions (CRLs) <10 mm found at colonoscopy tend towards "diagnose-and-leave" or "resect-and-discard" strategies based on real-time Kudo glandular pit-pattern's assessment using i-Scan. However, i-Scan has not yet been validated for Kudo's classification. We aimed to assess whether, in routine colonoscopy, i-Scan without magnification and optical enhancement (M-OE) reliably differentiates hyperplastic polyps (HPs) from other serrated lesions (SLs) and conventional adenomas (CAs), and, among SLs, HPs from sessile serrated lesions (SSLs) and traditional or unknown serrated adenomas (TSAs, USAs), in Kudo type II CRLs<10 mm, according to ASGE Preservation and Incorporation of Valuable endoscopic Innovations (PIVI) recommended negative predictive value (NPV) threshold for adenomas. METHODS: Prospectively recorded CRLs over 12 months, classified according to Kudo pit-pattern using i-Scan, were retrospectively compared with histology. RESULTS: Overall, 898 ≤5-mm and 704 6- to 9-mm CRLs were included. Type II pit-pattern was found in 76.6% and 38.7% of HPs and SSLs-TSAs/CAs (P<0.000001), and in 84.1% and 26.6% of SLs and CAs (P<0.000001). Among SLs, it was found in 81.9% and 86.6% of HPs and SSLs-TSAs. In CRLs≤5 mm, HPs were prevalent over other SLs (P=0.00001); in CRLs 6-9 mm, CAs were prevalent (P<0.000001). About 77% of SLs in right colon were SSLs-TSAs; 82% in left colon were HPs. PIVI ≥90% NPV threshold for adenomas was reached for CRLs 6-9mm (92.1%), nearly achieved for CRLs≤5 mm (88.2%), and not reached for SLs independently on the size. CONCLUSIONS: A strategy of "diagnose-and-leave" or "resect-and-discard" cannot be recommended for SLs<10 mm with Kudo type II pit-pattern using i-Scan, especially in right colon, if M-OE unavailable.

20.
Prog Urol ; 22 Suppl 1: S7-13, 2012 Jun.
Artigo em Francês | MEDLINE | ID: mdl-22770499

RESUMO

INTRODUCTION: With the increase in life expectancy, men's sexual health has become a major concern for elderly couples. Erectile dysfunction (ED) is responsible for a 50 % decrease of sexually active men between 60 and 85. The aim of this study was to identify objective elements to evaluate the influence of age on male sexual health. MATERIALS AND METHOD: Data on the effects of aging on men's sexual health have been explored in Medline and Embase using the MeSH keywords: prostate; sexuality and erectile dysfunction; aging. The articles were selected based on their methodology, relevance, date and language of publication. RESULTS: ED concerns 64 % of 70 years old patients and up to 77.5 % after 75 years. The screening of this pathology is based on standardized diagnostic tools. The most used of them remains the "International Index of Erectile function" which, in its simplified version with 5 items (IIEF-5 or SHIM), presents at the cutoff score of 21, a sensitivity of 98 %, a specificity of 88 % and a kappa index of 0.82. The ED is often responsible for a decrease in the quality of life for 60 % of elderly couples wishing to pursue sexual activity. Some diagnostic tools, such as the "Self-Esteem And Relationship" (SEAR) questionnaire or the "Sexual Experience Questionnaire" (SEX-Q) assess individual and couple satisfaction. Physiological aging seems to favor erection disorders by the development of an Androgen Deficiency of the Aging Male (ADAM) but pathological aging appears to be primarily responsible. Cardiovascular or neurological diseases and lower urinary tract symptoms (LUTS) are, with the polymedication, modifiable risk factors of ED to systematically screen in elderly subjects. CONCLUSION: Many diagnostic tools allow to detect ED and assess the impact on the quality of life of elderly men. The fundamental element of the management of ED is the research of modifiable risk factors including cardiovascular.


Assuntos
Envelhecimento , Disfunção Erétil/diagnóstico , Qualidade de Vida , Autoavaliação (Psicologia) , Idoso , Idoso de 80 Anos ou mais , Disfunção Erétil/tratamento farmacológico , Disfunção Erétil/fisiopatologia , Humanos , Impotência Vasculogênica/diagnóstico , Masculino , Ereção Peniana/efeitos dos fármacos , Valor Preditivo dos Testes , Fatores de Risco , Sensibilidade e Especificidade , Índice de Gravidade de Doença , Comportamento Sexual , Inquéritos e Questionários
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA