Abstract Alcohol Use Disorder (AUD) is a highly prevalent condition worldwide that produces a wide range of pathophysiological consequences, with a critical impact on health and social issues. Alcohol influences gene expression through epigenetic changes mainly through DNA methylation. In this sense, levels of 5-methylcytosine (5-mC), namely Global DNA methylation (GMe), which can be influenced by environmental and hormonal effects, represent a putative biological mechanism underlying alcohol effects. Our aim was to investigate the influence of AUD diagnosis and alcohol patterns (i.e., years of addiction, use in the last 30 days, and alcohol severity) on GMe levels. The sample consisted of 256 men diagnosed with AUD and 361 men without AUD. DNA samples from peripheral blood were used to assess GMe levels, measured through the levels of 5-mC using high-performance liquid chromatography. Results from multiple linear regression analysis indicated that the presence of AUD was associated with lower GMe levels (beta=-0.155, p=0.011). Other alcohol-related outcomes were not associated with DNA methylation. Our findings are consistent with the hypothesis that the impact of chronic and heavy alcohol use in GMe could be a potential mechanism mediating the multiple organ damages related to AUD.

Abstract Background: Infantile hemangiomas (IH) occur in approximately 4% to 10% of the pediatric population. The identification of clinical subtypes and conditions that indicate increased risk for complications is essential for therapeutic success. Objectives: To identify risk factors for complications, recurrence and unaesthetic sequelae. Methods: Retrospective cohort of patients with infantile hemangiomas undergoing follow-up at the Dermatology Service of Universidade Federal de Ciências da Saúde de Porto Alegre, between 2006 and 2018. Results: 190 patients were included; 24% had some type of complication, ulceration being the most frequent, and 86% required treatment. On correlation, ulceration was statistically related to mixed IH (p = 0.004), segmental IH (p < 0.01) and location in the gluteal region (p = 0.001). The mean time of treatment with propranolol was 12.7 months. Patients with PHACES syndrome and segmental infantile hemangioma required longer treatment (p < 0.001 and p = 0.0407, respectively), as well as those who started treatment after five months of life (p < 0.0001). Recurrence occurred in 16.6% of the treated patients, all-female; 94% were located on the head and neck (mainly on the upper eyelid, cyrano, S3 segment, and with parotid involvement); 61% and 38.8% were of the mixed and deep subtypes, respectively. Approximately 1/3 of the patients had some unaesthetic sequelae. Study limitations: As this is a retrospective study, data and photos of some patients were lost. Conclusions: Mixed and segmental hemangiomas are risk factors for ulceration and sequelae. Recurrence occurs more often in females and segmental hemangiomas. Segmental infantile hemangioma and PHACES syndrome require a longer time of treatment. Specific protocols are required for infantile hemangiomas with a high risk of recurrence.

Abstract Despite major advances in the study of the brain, investigations on neurochemistry in vivo still lack the solid ground of more established methods, such as structural and functional magnetic resonance imaging. Proton magnetic resonance spectroscopy (MRS) is a technique that might potentially fill in this gap. Nevertheless, studies using this approach feature great methodological heterogeneity, such as varying voxel of choice, differences on emphasized metabolites, and absence of a standardized unit. In this study, we present a methodology for creating a systematic review and meta-analysis for this kind of scientific evidence using the prototypical case of attention-deficit/hyperactivity disorder. Systematic review registration: International Prospective Register of Systematic Reviews (PROSPERO), CRD42018112418.

Abstract Hominin evolution is characterized by adaptive solutions often rooted in behavioral and cognitive changes. If balancing selection had an important and long-lasting impact on the evolution of these traits, it can be hypothesized that genes associated with them should carry an excess of shared polymorphisms (trans- SNPs) across recent Homo species. In this study, we investigate the role of balancing selection in human evolution using available exomes from modern (Homo sapiens) and archaic humans (H. neanderthalensis and Denisovan) for an excess of trans-SNP in two gene sets: one associated with the immune system (IMMS) and another one with behavioral system (BEHS). We identified a significant excess of trans-SNPs in IMMS (N=547), of which six of these located within genes previously associated with schizophrenia. No excess of trans-SNPs was found in BEHS, but five genes in this system harbor potential signals for balancing selection and are associated with psychiatric or neurodevelopmental disorders. Our approach evidenced recent Homo trans-SNPs that have been previously implicated in psychiatric diseases such as schizophrenia, suggesting that a genetic repertoire common to the immune and behavioral systems could have been maintained by balancing selection starting before the split between archaic and modern humans.

ABSTRACT Introduction: Lipomas are the most common benign mesenchymal tumors. Nevertheless, they are infrequent in the face, particularly giant lipomas, which are derived from the buccal fat pad. The literature regarding these tumors is scarce and their incidence is likely underestimated. Methods: We present a case report of surgical treatment of a relapsed giant buccal and temporal lipoma and review the related English literature in Pubmed and that in the Brazilian Journal of Plastic Surgery. Results: The tumor, which anatomically and morphologically corresponded to the buccal fat pad, was completely excised by facial and temporal access without sequelae to the facial nerve. A total of 31 reported cases of lipoma originating from the buccal fat pad were found; however, several were found and reported under other names. Discussion: The buccal fat pad is larger and more complex than assumed, and several pathologies are derived thereof, making the differential diagnosis of simple lipoma with fusiform cell lipoma and liposarcoma difficult due to their extreme similarities. Conclusion: In lipomatous lesions of the face, the possible origin in the buccal fat pad must be considered. An extensive study of these lesions with the purpose of standardizing the terminology and determining its real incidence must be performed.

RESUMO Introdução: Lipomas são os tumores benignos mesenquimais mais comuns. Entretanto, são pouco frequentes na face, principalmente o tipo considerado gigante, derivado do coxim adiposo bucal. A literatura é escassa e provavelmente a sua incidência é subestimada. Método: Relato do caso de tratamento cirúrgico de lipoma gigante bucal e temporal recidivado, e revisão da literatura no Pubmed na língua inglesa e na Revista Brasileira de Cirurgia Plástica. Resultados: O tumor, anatômica e morfologicamente, corresponde ao coxim adiposo bucal, foi totalmente retirado pelo acesso facial e temporal, sem sequelas ao nervo facial. Foram encontrados 31 casos relatados de lipoma de origem do coxim adiposo bucal, entretanto, vários casos foram encontrados e relatados sob outras denominações. Discussão: O coxim adiposo bucal é maior e mais complexo que se conhecia, e várias patologias se derivam deste, sendo importante o diagnóstico diferencial do lipoma simples com o de células fusiformes e com o lipossarcoma, devido a sua extrema semelhança. Conclusão: Nas lesões lipomatosas da face, a possível origem no coxim adiposo bucal deve ser considerada. Um estudo amplo dessas lesões com a finalidade de uniformizar a terminologia e de determinar a sua real incidência deve ser realizado.

ABSTRACT Introduction: Marcus Gunn syndrome is a rare and little known congenital ptosis of neurogenic origin. Its physiopathological mechanism has not been clarified. The authors report a case of pronounced ptosis that relapsed after four surgical corrections, along with a brief literature review. Case report: A 19-year-old young adult underwent four surgical corrections of the right palpebral ptosis in other services, without a definite diagnosis of the origin of the congenital ptosis. The patient showed eyelid opening in the right eye on opening the mouth, when the eye is lateralized to the ipsilateral side, and with contralateral eye closure. The last surgery was performed 2 years prior, during which silicone bands were placed and fixated. The patient did not present any visual or neurological deficit. He underwent surgery in order to remove the silicone bands that were previously placed, to prepare the strip grafts made of fibrous connective tissue from the fascia lata of the right inferior limb, and to perform myectomy of the levator muscle of the palpebral ptosis, fixation of the fascia lata grafts at the upper edge of the tarsus with traction and fixation to the ipsilateral frontal muscle. The patient progressed with synchronic movements of the eyelids bilaterally, and without relapse of the ptosis until the present date.

RESUMO Introdução: O fenômeno de Marcus Gunn é uma ptose congênita rara e pouco conhecida, de origem neurogênica, de fisiopatogenia ainda não esclarecida. Os autores relatam um caso de ptose acentuada e recidivada após quatro correções cirúrgicas, e fazem uma breve revisão bibliográfica. Relato de caso: Adulto jovem de 19 anos, sexo masculino, foi submetido a quatro tentativas de correção de ptose palpebral a direita em outros serviços, sem diagnóstico da origem da ptose congênita. O paciente apresentava abertura palpebral do olho direito ao abrir a boca, ao lateralizar o olhar para o lado ipse-lateral, e ao fechamento do olho contra-lateral. A última cirurgia foi realizada 2 anos antes, com posicionamento e fixação de fitas de silicone. O paciente não apresentava nenhum déficit neurológico ou visual. Foi submetido à cirurgia para remoção das fitas de silicone anteriormente posicionadas, confecção de enxertos em fita de técido fibroconectivo da fáscia lata do membro inferior direito, miectomia do musculo elevador da pálpebra ptosada, fixação dos enxertos da fáscia lata na borda superior do tarso com tração e fixação ao musculo frontal ipsilateral. Evoluiu com movimentos sincrônicos das pálpebras bilateralmente, e sem recidiva do ptose até o presente momento.

INTRODUÇÃO: Os sulcos periorbitários e zigomático e o malar flácido estão entre as características mais marcantes de envelhecimento ou de desarmonia facial. A reposição do volume é um método simples e eficiente, e o lipoenxerto pode ser o melhor material. O presente trabalho traz uma análise de 31 pacientes submetidos a autolipoenxertia, com ênfase na eficácia e na segurança da técnica. MÉTODO: Análise retrospectiva de 31 pacientes consecutivos, submetidos a lipoenxertias periorbitária e malar, concomitantemente ou não a outros procedimentos estéticos. A avaliação foi feita por meio de comparação entre fotografias pré e pós-operatória, bem como pelo grau de satisfação dos pacientes. RESULTADOS: Dos 31 pacientes, 26 (83,9%) classificaram o resultado pós-operatório como ótimo, 3 (9,7%), bom, e 2 (6,4%), regular. Na avaliação dos autores, 24 (77,5%) pacientes apresentaram resultado ótimo, 5 (16,1%), bom, e 2 (6,4%), regular. Houve necessidade de retoque de lipoenxertia em apenas 4 pacientes, por sugestão do cirurgião. As complicações foram mínimas e passageiras. CONCLUSÕES: A lipoenxertia facial é fácil e eficaz, e as complicações são mínimas quando realizada por cirurgiões qualificados.

BACKGROUND: Periorbital and zygomatic hollows as well as flaccid cheeks are among the most evident characteristics of aging or facial disharmony. Volume replacement is a simple and efficient procedure, and fat grafting is considered as the best treatment for these characteristics. This study evaluates 31 patients who underwent autologous fat grafting and emphasizes the safety and efficacy of this procedure. METHODS: A retrospective analysis of 31 consecutive patients who underwent periorbital and zygomatic fat grafting, alone or in combination with other cosmetic procedures, was carried out. Final evaluation was performed by assessing pre- and postoperative photographs as well as the degree of patient satisfaction. RESULTS: Of 31 patients, 26 (83.9%) reported excellent postoperative outcomes; 3 (9.7%), satisfactory outcomes; and 2 (6.4%), poor outcomes. According to the authors' evaluation, 24 (77.5%) patients had excellent outcomes, 5 (16.1%) had satisfactory outcomes, and 2 (6.4%) had poor outcomes. Retouching of the fat graft was recommended for only 4 patients. The complications observed were minimal and transient. CONCLUSIONS: Facial fat grafting is a simple and effective procedure that presents minimal complications when performed by skilled surgeons.