RESUMO
INTRODUCTION: The restless legs syndrome (RLS) is a common heritable neurologic disorder which is characterized by an irresistible desire to move and unpleasant sensations in the legs. METHODS: We aim to identify new variants associated with RLS by performing genome-wide linkage and subsequent association analysis of forty member's family with history of RLS. RESULTS: We found evidence of linkage for three loci 7q21.11 (HLOD = 3.02), 7q21.13-7q21.3 (HLOD = 3.02) and 7q22.3 (HLOD = 3.09). Fine-mapping of those regions in association study using exome sequencing identified SEMA3A (p-value = 8.5·10-4), PPP1R9A (p-value = 7.2·10-4), PUS7 (p-value = 8.7·10-4), CDHR3 (p-value = 7.2·10-4), HBP1 (p-value = 1.5·10-4) and COG5 (p-value = 1.5·10-4) genes with p-values below significance threshold. CONCLUSION: Linkage analysis with subsequent association study of exome variants identified six new genes associated with RLS mapped on 7q21 and q22.
Assuntos
Cromossomos Humanos Par 7/genética , Locos de Características Quantitativas , Síndrome das Pernas Inquietas/genética , Proteínas Adaptadoras de Transporte Vesicular/genética , Proteínas Relacionadas a Caderinas , Caderinas/genética , Feminino , Estudo de Associação Genômica Ampla , Proteínas de Grupo de Alta Mobilidade/genética , Humanos , Transferases Intramoleculares/genética , Masculino , Proteínas de Membrana/genética , Proteínas dos Microfilamentos/genética , Proteínas do Tecido Nervoso/genética , Linhagem , Proteínas Repressoras/genética , Semaforina-3A/genética , Sequenciamento do ExomaRESUMO
Purpose: To investigate the clinical importance of the thicknesses of the retinal nerve fibre (RNFL) and ganglion cell and inner plexiform layer (GCL+) by spectral domain optic coherence tomography (SD-OCT) in asymptomatic empty sella (ES) patients.Materials and methods: In this cross-sectional, non-randomized prospective study, 44 ES patients and 74 age- and sex-matched healthy individuals were evaluated. All the patients and controls competed an automated 30-2 visual field (VF) test. The mean deviation (MD), pattern standard deviation (PSD), RNFL, and GCL + thickness values obtained with SD-OCT were compared statistically between the two groups.Results: No marked VF defects were found in either group, and there was no statistically significant between-group difference in MD or PSD values. In terms of RNFL thickness, the average and superior quadrant RNFL values of the ES patients were thinner than those of the controls, with statistical significance (p = 0.013 and p = 0.043, respectively). Although other measured RNFL quadrant thicknesses and foveal thickness (FT), macular volume (MV), and average macular thickness (AMT) values were reduced in the ES group, these differences were not statistically significant. The average GCL + value and GCL + values in six sectors in the patient group were significantly lower than those in the control group.Conclusions: Asymptomatic ES patients have a risk of primary ES syndrome and should be followed up using a multidisciplinary approach. Objective and quantitative RNFL and GCL + thickness measurements obtained with OCT can provide valuable data for monitoring these patients.
Assuntos
Atrofia/patologia , Síndrome da Sela Vazia/patologia , Fibras Nervosas/patologia , Retina/patologia , Células Ganglionares da Retina/patologia , Tomografia de Coerência Óptica , Estudos de Casos e Controles , Estudos Transversais , Síndrome da Sela Vazia/diagnóstico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Campos VisuaisRESUMO
AIM: This study aimed to identify the serum neutrophil/lymphocyte ratio (NLR), monocyte/lymphocyte ratio (MLR), platelet/lymphocyte ratio (PLR), and C-reactive protein (CRP)/albumin (CAR) ratios among patients with diagnosis of migraine according to migraine subtypes (attack/attack-free period, migraine with or without aura, episodic/chronic migraine, family history/no family history) and to collect data to investigate the role of inflammation and oxidative stress in etiology. METHOD: The study was completed with 235 patients with migraine diagnosis classified according to the International Classification of Headache Disorders-2013(ICHD) classification and 166 healthy controls. Patients with migraine were assessed during the attack by emergency medicine specialists in the emergency room and in attack-free periods in neurology clinics by neurology specialists. RESULTS: Of patients with migraine, 77.02% were female and 22.98% were male. The neutrophil, NLR, PLR, and MLR levels were higher than the control group (p < 0.05). The serum CRP, neutrophil, NLR, MLR, and CAR levels were higher, and albumin and lymphocyte levels were lower during migraine attack periods (p < 0.05). Migraines with aura were observed to have higher serum NLR levels compared to the aura-free patients (p < 0.05). Migraine patients with positive family history were found to have higher NLR levels compared to patients without a family history (p < 0.05). CONCLUSION: Although non-specific, serum NLR, MLR, PLR, and CAR levels may be potential biomarkers associated with migraine subtypes with different clinical features such as migraine attack period, migraine with aura, and patients with family history of migraine. Elevated inflammatory markers may indicate the severity of disease.
