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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.
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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.
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The human immunodeficiency virus (HIV) causes an infectious disease with a high viral tropism toward CD4 T-lymphocytes and macrophage. Since the advent of combined antiretroviral therapy (CART), the number of opportunistic infectious disease has diminished, turning HIV into a chronic condition. Nevertheless, HIV-infected patients suffer from several life-long symptoms, including the HIV-associated neurocognitive disorder (HAND), whose biological substrates remain unclear. HAND includes a range of cognitive impairments which have a huge impact on daily patient life. The aim of this study was to examine putative structural brain network changes in HIV-infected patient to test whether diffusion-imaging-related biomarkers could be used to discover and characterize subtle neurological alterations in HIV infection. To this end, we employed multi-shell, multi-tissue constrained spherical deconvolution in conjunction with probabilistic tractography and graph-theoretical analyses. We found several statistically significant effects in both local (right postcentral gyrus, right precuneus, right inferior parietal lobule, right transverse temporal gyrus, right inferior temporal gyrus, right putamen and right pallidum) and global graph-theoretical measures (global clustering coefficient, global efficiency and transitivity). Our study highlights a global and local reorganization of the structural connectome which support the possible application of graph theory to detect subtle alteration of brain regions in HIV patients.Clinical Relevance-Brain measures able to detect subtle alteration in HIV patients could also be used in e.g. evaluating therapeutic responses, hence empowering clinical trials.
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Conectoma , Infecções por HIV , Substância Branca , Encéfalo/diagnóstico por imagem , Infecções por HIV/tratamento farmacológico , Humanos , Lobo ParietalRESUMO
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.
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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/genéticaRESUMO
BACKGROUND AND OBJECTIVES: Early-onset colorectal cancer (eoCRC), defined as colorectal cancer (CRC) before the age of 50 is increasing in incidence. We evaluated exogenous and endogenous risk factors, and clinical features of eoCRC, compared to late-onset CRC (loCRC). METHODS: In this retrospective case-case study, patients were prospectively enrolled from 2015 to 2018. We collected clinical features (age, sex, time from symptom onset to diagnosis, symptoms, family history, smoking and alcohol habits, diabetes, BMI, and genetic analysis) and tumor characteristics. Independent risk factors for eoCRC and odds ratios (ORs) were identified. RESULTS: Fifty-four eoCRCs and 494 loCRCs were enrolled. Patients with eoCRC experienced longer delay time from symptom onset to diagnosis: 40.7% were diagnosed within 6 months from symptoms onset, compared to 85.6% of patients with loCRC (P < 0.0001). They differed for sex, presence of symptoms, family history, smoking habit, alcohol intake, and BMI. Rectal localization was more closely associated with eoCRC (64.8%) than loCRC (34.5%, P < 0.0001). Family history of CRC was associated with eoCRC (OR = 8.8). When family history occurred with hereditary cancer syndromes, the OR for eoCRC increased to 21. CONCLUSION: In young adults with alarming symptoms, CRC must be suspected to avoid delay time from symptom onset to diagnosis and genetic risk assessment has to be evaluated. Smoking habits, alcohol intake, and BMI are not associated with eoCRC.
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Neoplasias Colorretais , Idade de Início , Neoplasias Colorretais/diagnóstico , Neoplasias Colorretais/epidemiologia , Neoplasias Colorretais/genética , Humanos , Incidência , Reto , Estudos Retrospectivos , Fatores de Risco , Adulto JovemRESUMO
Primary open angle glaucoma (POAG) is one of the most common causes of permanent blindness in the world. Recent studies have originated the hypothesis that POAG could be considered as a central nervous system pathology which results in secondary visual involvement. The aim of this study is to assess possible structural whole brain connectivity alterations in POAG by combining multi-shell diffusion weighted imaging, multi-shell multi-tissue probabilistic tractography, graph theoretical measures and a newly designed disruption index, which evaluates the global reorganization of brain networks in group-wise comparisons. We found global differences in structural connectivity between Glaucoma patients and controls, as well as in local graph theoretical measures. These changes extended well beyond the primary visual pathway. Furthermore, group-wise and subject-wise disruption indices were found to be statistically different between glaucoma patients and controls, with a positive slope. Overall, our results support the hypothesis of a whole-brain structural reorganization in glaucoma which is specific to structural connectivity, possibly placing this disease within the recently defined groups of brain disconnection syndrome.
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Encéfalo , Glaucoma de Ângulo Aberto , Encéfalo/diagnóstico por imagem , Mapeamento Encefálico , Imagem de Difusão por Ressonância Magnética , Substância Cinzenta , HumanosRESUMO
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.
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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 JovemRESUMO
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.
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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 JovemRESUMO
Hearing loss is the most common sensory disorder and because of its high genetic heterogeneity, implementation of Massively Parallel Sequencing (MPS) in diagnostic laboratories is greatly improving the possibilities of offering optimal care to patients. We present the results of a two-year period of molecular diagnosis that included 207 French families referred for non-syndromic hearing loss. Our multi-step strategy involved (i) DFNB1 locus analysis, (ii) MPS of 74 genes, and (iii) additional approaches including Copy Number Variations, in silico analyses, minigene studies coupled when appropriate with complete gene sequencing, and a specific assay for STRC. This comprehensive screening yielded an overall diagnostic rate of 48%, equally distributed between DFNB1 (24%) and the other genes (24%). Pathogenic genotypes were identified in 19 different genes, with a high prevalence of GJB2, STRC, MYO15A, OTOF, TMC1, MYO7A and USH2A. Involvement of an Usher gene was reported in 16% of the genotyped cohort. Four de novo variants were identified. This study highlights the need to develop several molecular approaches for efficient molecular diagnosis of hearing loss, as this is crucial for genetic counselling, audiological rehabilitation and the detection of syndromic forms.
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Conexinas/genética , Variações do Número de Cópias de DNA , Perda Auditiva/diagnóstico , Sequenciamento de Nucleotídeos em Larga Escala/métodos , População Branca/genética , Estudos de Coortes , Simulação por Computador , Conexina 26 , Diagnóstico Precoce , França , Predisposição Genética para Doença , Testes Genéticos/métodos , Perda Auditiva/genética , Humanos , Masculino , Mutação , Sensibilidade e Especificidade , Análise de Sequência de DNA/métodosRESUMO
The inability to ejaculate, i.e. anejaculation, affects the vast majority of men after spinal cord injury (SCI). Ejaculation can however be obtained in approximately half of SCI men by applying extraphysiological vibratory stimulation to the penis suggesting that a spinal neural organization commanding ejaculation exists than can be activated despite disruption of cerebral connections. In the rat, a spinal generator of ejaculation (SGE) has been identified which is notably characterized by the presence of substance P (SP) receptor (neurokinin-1 receptor) onto the constituting neurons. The aim of this study was to evaluate the consequence of chronic spinal cord section and the effect of SP on the function of the rat SGE. Electrical stimulations of varying intensity were applied to SGE in anesthetized rats 4weeks after complete transection of the thoracic spinal cord (T9) and ejaculation occurrence as well as peripheral responses, i.e. bulbospongiosus electromyogram and pressure within the seminal vesicle, were monitored. Then the effect of SP locally delivered was assessed in this experimental setting. Occurrence of ejaculation elicited by SGE stimulation, SGE excitatory threshold, and amplitude of peripheral responses were unchanged in spinalized as compared to spinally intact rats. In spinalized rats, SP triggered ejaculation upon intraspinal delivery into the SGE area and decreased the SGE stimulation intensity provoking ejaculation after intrathecal administration indicating a decrease in SGE excitatory threshold. The pro-ejaculatory inducing and facilitating effects of SP were reversed by the selective neurokinin-1 receptor antagonist RP67580. It was concluded that chronic spinalization has no significant impact on SGE functioning and SP exerts a pro-ejaculatory role at the SGE level, opening new avenues for the treatment of anejaculation in SCI men.
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Ejaculação/fisiologia , Antagonistas dos Receptores de Neurocinina-1/farmacologia , Neurônios/efeitos dos fármacos , Medula Espinal/efeitos dos fármacos , Substância P/farmacologia , Animais , Estimulação Elétrica/métodos , Eletromiografia/métodos , Masculino , Ratos Wistar , Medula Espinal/fisiologia , Traumatismos da Medula EspinalRESUMO
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.
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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/complicaçõesRESUMO
A spinal generator for ejaculation (SGE) has been identified in the rat that orchestrates peripheral events leading to ejaculation. Despite physiological evidence of cerebral influences exerted on the SGE, brain-descending pathways to the SGE have not been fully delineated. A tracing study combining retrograde and anterograde approaches was undertaken in adult male rats in order to identify brain sites containing neurons that directly project onto SGE neurons. Fluorogold (FG) was microinjected as a retrograde tracer into the SGE area in the central medial gray of the third lumbar (L3) spinal segment. FG-positive neurons were found in various structures in medulla oblongata, pons, and forebrain. Among the brain structures already known as participating in the brain control of ejaculation and harboring retrogradelly-labeled neurons, the ventrolateral part of the gigantocellular nucleus and the raphe pallidus/magnus in medulla oblongata as well as the lateral hypothalamus were targeted with the anterograde tracer dextran amine (DA). Galanin and substance P receptor (NK1) were used as markers of SGE neurons. DA-positive fibers and varicosities originating in the targeted brain sites were found to make close appositions with neurons expressing galanin or NK1 receptors in central medial gray of L3-L4 spinal segments. This study provides new insights regarding the anatomical support for the brain control of ejaculation via direct influences onto the SGE.
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Encéfalo/fisiologia , Ejaculação/fisiologia , Vias Neurais/fisiologia , Neurônios/fisiologia , Medula Espinal/fisiologia , Animais , Encéfalo/anatomia & histologia , Imuno-Histoquímica/métodos , Masculino , Vias Neurais/anatomia & histologia , Ratos Wistar , Formação Reticular/fisiologia , Medula Espinal/anatomia & histologiaRESUMO
According to Italian legislation to diagnose brain death (BD) after the initial documentation of the clinical signs, repetition of clinical testing and confirmation of the loss of bioelectrical activity of the brain (EEG) is required. However, when EEG is unreliable it is necessary to demonstrate cerebral circulatory arrest (CCA). Accepted imaging techniques to demonstrate CCA include: cerebral angiography, cerebral scintigraphy, transcranial Doppler (TCD) and computed tomography angiography (CTA). This latter technique, due to its large availability, low invasivity and easy and fast acquisition is widely used over the country. Nevertheless its diagnostic reliability is affected by some limitations in patients with decompressive craniectomy. Here we report two cases of brain injury with clinical signs of BD and at the same time, opacification of intracranial arteries on CTA and a pattern consistent with flow arrest on the corresponding insonable arteries on TCD. The discrepancy between CTA and TCD results points out a methodology limitation that could be overcome by updating Italian legislation according to other European Countries legislation.
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Artefatos , Morte Encefálica/diagnóstico , Angiografia Cerebral/métodos , Circulação Cerebrovascular , Craniectomia Descompressiva/efeitos adversos , Hipotensão Intracraniana/etiologia , Tomografia Computadorizada por Raios X , Acidentes de Trânsito , Adulto , Morte Encefálica/diagnóstico por imagem , Morte Encefálica/legislação & jurisprudência , Lesões Encefálicas/diagnóstico por imagem , Lesões Encefálicas/cirurgia , Artérias Cerebrais/diagnóstico por imagem , Hemorragia Cerebral/etiologia , Hemorragia Cerebral/cirurgia , Erros de Diagnóstico , Hematoma Subdural/etiologia , Hematoma Subdural/cirurgia , Humanos , Hipotensão Intracraniana/diagnóstico por imagem , Itália , Masculino , Obtenção de Tecidos e Órgãos , Ultrassonografia Doppler TranscranianaAssuntos
Códon/genética , DNA Helicases/química , DNA Helicases/genética , Deficiência Intelectual Ligada ao Cromossomo X/genética , Mutação/genética , Proteínas Nucleares/química , Proteínas Nucleares/genética , Talassemia alfa/genética , Sequência de Aminoácidos , Animais , Sequência de Bases , Família , Humanos , Dados de Sequência Molecular , Fenótipo , Estrutura Terciária de Proteína , Alinhamento de Sequência , Proteína Nuclear Ligada ao XRESUMO
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.
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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/genéticaRESUMO
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.
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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 SexualRESUMO
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.
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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/fisiopatologiaRESUMO
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 , MasculinoRESUMO
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.