Objective: Autism spectrum disorder (ASD) affects cognitive development and social interaction on different levels. Genetic and environmental factors are associated with secondary ASD. Genetic inheritance is mainly polygenic, and 10% are copy number variations (CNVs). Array comparative genomic hybridization (array-CGH) is used to identify CNVs. This report aimed to discuss autism spectrum disorder and its diagnosis by array comparative genomic hybridization, highlighting the association with the pathogenic duplication of 17q12q21.2. Case description: A male baby was born at 37 weeks’ gestation by cesarean section. The child showed strabismus, cryptorchidism, hypertelorism, frontal bossing, and developmental delay, walking at 25 months and talking at 4 years. At the age of 2 years, array-CGH of peripheral blood revealed a 5.6-Mb 17q12q21.2 duplication or arr 17q12q21.2 (34,815,527-40,213.109)x3 encompassing 190 genes, including HNF-1B and LHX1. The child was clinically diagnosed with ASD. Comments: Changes in the 17q12 segment, such as the duplication found, have been associated with the development of several problems in previous studies, mainly kidney diseases and behavioral disorders. Located at this chromosome region, HNF1's homeobox B codes a member of the superfamily containing homeodomain of transcription factors. Another gene associated with abnormalities in neurological development regarding 17q12 deletions is LHX1, as shown in this case study. LHX1 plays a role in the migration and differentiation of GABA neurons, modulating the survival of pre-optical interneurons, thus affecting cellular migration and distribution in the cortex. Changes in this control result in flaws in interneuron development, contributing to the pathophysiology of psychiatric diseases.

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Background: Myasthenia Gravis (MG) is an autoimmune disease of the neuromuscular junction. In Brazil, epidemiological data regarding MG and its clinical aspects are limited. Objectives: The aim of this study was to describe the clinical and epidemiological profile of patients with MG at a referral center. Design and setting: Cross-sectional observational study performed on patients with Myasthenia Gravis age 18 years and older at Federal University of Paraná. Methods: Data were obtained through clinical evaluation and medical records. Results: The sample comprised 100 patients (67 females and 33 males). The median age at last appointment was 49.5 years (IQR 37-61). AntiAchR antibody was positive in 79 patients. Anti-MuSK antibody was positive in 6 positive patients. The Repetitive Nerve Stimulation (RNS) test presented abnormal result in 89 individuals. The main comorbidities reported were systemic arterial hypertension (SAH) (35%), mental health disorders (23%), diabetes mellitus (DM) (21%), dyslipidemia (18%), and hypothyroidism (13%). During the study period, the patients were on the following medications: pyridostigmine (88%), prednisone (42%), azathioprine (45%), cyclosporine (13%), and mycophenolate (6%). Thymectomy was performed in 30 patients, of whom 6 had a pathological diagnosis of thymoma, and five a pathological diagnosis of thymic hyperplasia. Conclusion: The patient profile as well as the prevalence of comorbidities in our MG sample were similar to previous studies. We also found that our sample presented a higher incidence of SAH, DM, mental health disorders and hypothyroidism compared with the general population.