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1.
J Neurol Neurosurg Psychiatry ; 87(12): 1287-1295, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28103199

RESUMO

BACKGROUND: Susac syndrome is characterised by the triad of encephalopathy with or without focal neurological signs, branch retinal artery occlusions and hearing loss. Establishment of the diagnosis is often delayed because the triad is complete only in a minority of patients at disease onset. This leads to a critical delay in the initiation of appropriate treatment. Our objective was to establish criteria for diagnosis of either definite or probable Susac syndrome. METHOD: The establishment of diagnostic criteria was based on the following three steps: (1) Definition of a reference group of 32 patients with an unambiguous diagnosis of Susac syndrome as assessed by all interdisciplinary experts of the European Susac Consortium (EuSaC) team (EuSaC cohort); (2) selection of diagnostic criteria, based on common clinical and paraclinical findings in the EuSaC cohort and on a review of the literature; and (3) validation of the proposed criteria in the previously published cohort of all Susac cases reported until 2012. RESULTS: Integrating the clinical presentation and paraclinical findings, we propose formal criteria and recommend a diagnostic workup to facilitate the diagnosis of Susac syndrome. More than 90% of the cases in the literature fulfilled the proposed criteria for probable or definite Susac syndrome. We surmise that more patients could have been diagnosed with the recommended diagnostic workup. CONCLUSIONS: We propose diagnostic criteria for Susac syndrome that may help both experts and physicians not familiar with Susac syndrome to make a correct diagnosis and to prevent delayed treatment initiation.


Assuntos
Síndrome de Susac/diagnóstico , Adolescente , Adulto , Estudos de Coortes , Diagnóstico Tardio , Diagnóstico Diferencial , Intervenção Médica Precoce , Feminino , Fidelidade a Diretrizes , Humanos , Comunicação Interdisciplinar , Colaboração Intersetorial , Masculino , Pessoa de Meia-Idade , Valores de Referência , Síndrome de Susac/terapia , Adulto Jovem
2.
PLoS One ; 10(3): e0120357, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25768940

RESUMO

Magnetic resonance imaging enhances the clinical diagnosis of Menière's disease. This is accomplished by in vivo detection of endolymphatic hydrops, which are graded using different semi-quantitative grading systems. We evaluated an established, semi-quantitative endolymphatic hydrops score and with a quantitative method for volumetric assessment of the endolymphatic size. 11 patients with Menière's disease and 2 healthy subjects underwent high resolution endolymphatic hydrops 3 Tesla MRI with highly T2 weighted FLAIR and T2DRIVE sequences. The degree of endolymphatic hydrops was rated semi-quantitatively and compared to the results of 3D-volumetry. Moreover, the grade of endolymphatic hydrops was correlated with pure tone audiometry. Semi-quantitative grading and volumetric evaluation of the endolymphatic hydrops are in accordance (r = 0.92) and the grade of endolymphatic hydrops correlates with pure tone audiometry. Patients with a sickness duration of ≥ 30 months showed a significant higher total labyrinth fluid volume (p = 0.03). Fast, semi-quantitative evaluation of endolymphatic hydrops is highly reliable compared to quantitative/volumetric assessment. Endolymphatic space is significantly higher in patients with longer sickness duration.


Assuntos
Endolinfa/metabolismo , Doença de Meniere/diagnóstico , Doença de Meniere/patologia , Audiometria de Tons Puros , Gadolínio/farmacologia , Humanos , Imageamento Tridimensional , Imageamento por Ressonância Magnética/métodos , Estatísticas não Paramétricas
3.
Pharmacogenet Genomics ; 18(3): 193-200, 2008 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-18300940

RESUMO

OBJECTIVE: Maldescended testes are the most common genital anomaly in newborns and are associated with testicular malignancy and infertility. As the inguinoscrotal phase of testis descent is androgen-dependent and requires integrity of the luteinizing hormone/chorionic gonadotropin receptor (LHCGR), we investigated whether nonsynonymous polymorphisms of the LHCGR gene are associated with maldescended testes. METHODS: This was a retrospective case-control study including 278 patients with maldescended testes, 277 infertile men without maldescensus and 271 controls with normal sperm concentrations. Clinical and endocrinological workup of the patients was performed. Single nucleotide polymorphism (SNP) analysis was performed by GeneScan and TaqMan technology. RESULTS: Men with maldescended testes had significantly lower testis volumes, higher serum luteinizing hormone (LH) and follicle-stimulating hormone (FSH) but similar testosterone levels compared with both the control groups. The insLQ polymorphism in exon 1 (rs4539842) and the N291S SNP in exon 10 (rs12470652), showing increased receptor sensitivity in vitro, were not differently distributed between patients and controls. The S312N SNP in exon 10 (rs2293275) was significantly less frequent in men with maldescended testes than in controls. This difference was confirmed when infertile men with and without maldescensus were considered together. CONCLUSIONS: In men with maldescensus, a high LH drive maintains normal testosterone levels but this LH resistance is not associated with any particular LHCGR genotype. A significant association with the S312N polymorphism in exon 10 of the LHCGR is correlated to the spermatogenetic damage rather than to the maldescensus itself. Either the LHCGR itself or another genomic region linked to this SNP, possibly the germ cell-specific TFIIA-alpha/beta-like factor gene transcribed from the same genomic region in the opposite direction, is a risk factor for male infertility.


Assuntos
Criptorquidismo/genética , Infertilidade Masculina/genética , Polimorfismo Genético , Receptores do LH/genética , Sequência de Bases , Estudos de Casos e Controles , Primers do DNA/genética , Éxons , Haplótipos , Humanos , Masculino , Mutagênese Insercional , Farmacogenética , Polimorfismo de Nucleotídeo Único , Estudos Retrospectivos , Espermatogênese/genética
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