Abstract Objectives: To determine the cut-off point of the cochlear radiation dose as a risk factor for hearing loss in patients with vestibular schwannoma treated with radiosurgery. Methods: A systematic review of the literature was performed without language or publication year restrictions in the MEDLINE/PubMed, EMBASE, Web of Science, LILACS/VHL and Cochrane Library databases. Studies that met the following criteria were included: 1) population: adults of both sexes who underwent radiosurgery for vestibular schwannoma treatment; 2) exposure: cochlear radiation; 3) outcome: hearing loss; 4) type of study: cohort. Two independent reviewers conducted the entire review process. The registration number in PROSPERO was CRD42020206128. Results: From the 333 articles identified in the searches, seven were included after applying the eligibility criteria. There was no standardization as to how to measure exposure or outcome in the included studies, and most studies did not present sufficient data to enable meta-analysis. Conclusion: It was not possible to determine a cut-off point for high cochlear dose that could be considered a risk factor for hearing loss.

Resumen Leal, M.; M. I. Mercado, A. S. Cuello, I. C. Zampini, G. I. Ponessa & M. I. Isla. 2023. Morfo-anatomía e histoquímica de órganos vegetativos de Lycium humile (Solanaceae): rasgos adaptativos a humedales salinos de altura. Darwiniana, nueva serie 11(2): 466-484. Lycium humile Phil., es una planta halófita extrema, endémica de Argentina, Bolivia y Chile, que crece entre los 2000 y 4000 m s.m. en humedales salinos. El objetivo del presente trabajo es identificar caracteres adaptativos, morfo-anatómicos e histoquímicos de órganos vegetativos de L. humile relacionados a su tolerancia a ambientes extremos de humedales salinos de altura, con el fin de evaluar su potencial como fuente de metabolitos de interés comercial o de genes relacionados a la tolerancia a factores abióticos. Para llevar a cabo el análisis, durante el periodo de febrero 2018, se obtuvieron muestras de plantas pertenecientes a 4 poblaciones (5 individuos por población) ubicadas en los departamentos de Antofagasta de la Sierra, Santa María y Ambato en la provincia de Catamarca, Argentina. Hojas y tallos se estudiaron mediante técnicas histológicas convencionales y análisis histoquímicos para microscopia óptica. Se realizaron también estudios de composición elemental de diferentes tejidos foliares mediante microscopía electrónica de barrido acoplada a espectroscopia elemental de difracción de rayos X (EDX). Las hojas y tallos de las poblaciones estudiadas mostraron características anatómicas e histoquímicas uniformes. Se describe por primera vez cómo se alcanza la suculencia de las hojas por el plegamiento de los tejidos evidenciado en un patrón de venación tridimensional. Se destaca la presencia de mesófilo isolateral-radial y parénquima acuífero como caracteres únicos para la especie. Se evidencian tricomas glandulares y parénquima en empalizada con contenidos complejos de fenoles, flavonoides, proteínas, lípidos, terpenos y alcaloides; así como depósitos de fenoles, lípidos y terpenos en la capa externa de la cutícula. El análisis EDX mostró idioblastos cristalíferos ricos en contenidos de Ca2+ y Na+ . Los tallos se caracterizaron por presentar hipodermis y cámaras de aire en los estratos corticales y medulares. Estos caracteres anatómicos e histoquímicos de L. humile representan rasgos adaptativos a ambientes salinos de humedales de altura. Se discute su función en relación al ambiente y su potencial como fuente de genes de resistencia y de metabolitos interesantes para la industria cosmética y farmacéutica.

Abstract Leal, M.; M. I. Mercado, A. S. Cuello, I. C. Zampini, G. I. Ponessa & M. I. Isla. 2023. Morpho-anatomy and histochemistry of vegetative organs of Lycium humile (Solanaceae): adaptative traits to high altitude saline wetlands. Darwiniana, nueva serie 11(2): 466-484. Lycium humile Phil., is an extreme halophyte plant, endemic to Argentina, Bolivia, and Chile, which grows between 2000 and 4000 m a.s.l. in saline wetlands environments. The aim of this work is to identify morpho-anatomical and histochemical adaptive characteristics of the vegetative organs of L. humile linked to its tolerance to extreme environments of high altitude saline wetlands, in order to evaluate its potential as source of metabolites with commercial value or as source of resistance genes related to abiotic stress tolerance. To carry out the analysis, during the period of February 2018, samples were obtained from plants belonging to 4 populations of the species (5 individuals per population) located at the departments of Antofagasta de la Sierra, Santa María and Ambato, province of Catamarca, Argentina. Leaf and stems were studied using histochemical tests, conventional histological preparations and optical microscopy. Different foliar tissues were analyzed by scanning electron microscopy coupled to elemental X-ray diffraction spectroscopy (EDS). The leaves and stems of the analyzed populations showed uniform anatomical and histochemical features. It was stated for the first time that the succulence of the leaf is reached by the folding of the tissues evidenced in a tridimensional venation pattern. The presence of isolateral-radial mesophyll and aquifer parenchyma is highlighted as a unique feature characteristic for the species. The glandular trichomes and palisade parenchyma revealed complex contents of phenols, flavonoids, proteins, lipids, terpenes, and alkaloids; while the outer layer of the cuticles presented phenolic, terpenic and lipidic deposits. The EDS analysis showed crystalliferous idioblasts with high contents of Ca2+ and Na+. The stems exhibited hypodermis and air chambers formed in the cortical and medullary layers. These anatomical and histochemical characteristics of L. humile represent adaptive traits to saline high-altitude wetland environments. Its functionality in relation to the environment and its potential as source of resistance genes and metabolites interesting for the cosmetic and pharmaceutical industries are discussed.

Abstract Objectives: To provide an overview of the main evidence-based recommendations for the diagnosis of hearing loss in children and adolescents aged 0–18 years. Methods: Task force members were educated on knowledge synthesis methods, including electronic database search, review and selection of relevant citations, and critical appraisal of selected studies. Articles written in English or Portuguese on childhood hearing loss were eligible for inclusion. The American College of Physicians’ guideline grading system and the American Thyroid Association’s guideline criteria were used for critical appraisal of evidence and recommendations for therapeutic interventions. Results: The topics were divided into 2 parts: (1) treatment of sensorineural hearing loss: individual hearing aids, bilateral cochlear implants, cochlear implants in young children, unilateral hearing loss, and auditory neuropathy spectrum disorder; and (2) treatment of conductive/mixed hearing loss: external/middle ear malformations, ventilation tube insertion, and tympanoplasty in children. Conclusions: In children with hearing loss, in addition to speech therapy, Hearing AIDS (HAs) or implantable systems may be indicated. Even in children with profound hearing loss, both the use of HAs and behavioral assessments while using the device are important.

Abstract Objectives: To provide an overview of the main evidence-based recommendations for the diagnosis of hearing loss in children and adolescents aged 0 to 18 years. Methods: Task force members were educated on knowledge synthesis methods, including electronic database search, review and selection of relevant citations, and critical appraisal of selected studies. Articles written in English or Portuguese on childhood hearing loss were eligible for inclusion. The American College of Physicians’ guideline grading system and the American Thyroid Association’s guideline criteria were used for critical appraisal of evidence and recommendations for therapeutic interventions. Results: The evaluation and diagnosis of hearing loss: universal newborn hearing screening, laboratory testing, congenital infections (especially cytomegalovirus), genetic testing and main syndromes, radiologic imaging studies, vestibular assessment of children with hearing loss, auditory neuropathy spectrum disorder, autism spectrum disorder, and noise-induced hearing loss. Conclusions: Every child with suspected hearing loss has the right to diagnosis and appropriate treatment if necessary. This task force considers 5 essential rights: (1) Otolaryngologist consultation; (2) Speech assessment and therapy; (3) Diagnostic tests; (4) Treatment; (5) Ophthalmologist consultation.

Abstract Objective: To describe the external and middle ear of goats, using computed tomography and endoscopic dissection, comparing them with the anatomy of the human ear, aiming to evaluate the viability of this animal model for training in otological endoscopic surgery. Methods: Images of the external and middle ear of goats were produced by computed tomography in the coronal and axial planes and analyzed. The radiological anatomy of the external and middle goat and human ear are described. Some measures of surgical interest were described, such as the length of the external auditory canal, external and internal cross-sectional area of the external auditory canal, middle ear depth, vertical angle of the external auditory canal, length of malleus and incus. After the tomographic study, we analyzed the importance of evaluations through the endoscopic dissection of the goat ear. Results: The bony canal is extremely tortuous and shows a bony prominence with significant elevation near the lower edge of the tympanic membrane. The middle ear has a large tympanic bulla in the hypotympanum region. The malleus is shaped similarly to that of the human, but its handle is located anterior to its head. The mastoid is not pneumatized. Compared to the human mastoid, there was a statistically significant difference in the external and internal cross-sectional area, at the depth of the middle ear, in the vertical angle of the canal and in the length of the incus. Conclusion: Goat morphometric anatomy showed that this model is suitable for surgical simulation in the initial training for endoscopic otological surgery. It is an important contribution to the development of skills to accelerate the subsequent endoscopic otological surgical training in humans, despite some differences found. Objective surgery Methods described crosssectional cross sectional incus study Results membrane region head pneumatized Conclusion humans found

Abstract Introduction Prenatal exposure to the Zika virus can impair neurodevelopment and cause auditory damage. Objective To analyze the frequency-following response (FFR) and the auditory behavior (with the LittlEars® questionnaire) of children with and without prenatal exposure to Zika virus infection. Methods A total of 30 children participated in the present study, divided into 3 groups: 10 children with microcephaly and prenatal exposure to the Zika virus; 10 normocephalic children with prenatal exposure to the Zika virus; and 10 children with no evidence of prenatal exposure to the virus. The FFR test was performed with the /da/ syllable. The LittlEars® questionnaire was used with parents/guardians. Results For the FFR measurements, there was no difference between the groups. The children with exposure to the Zika virus presented a final score in the questionnaire below what is expected from children with normal hearing. A significant difference was observed for the final, semantic, and expressive scores between the group with microcephaly and the other groups. A strong negative correlation was seen between the LittlEars® questionnaire final score and the FFR measurements for the group with microcephaly when compared with the other groups. Conclusion Children exposed to the Zika virus, with and without microcephaly, presented FFR patterns similar to what was seen in children with no evidence of virus exposure. However, they showed signs of immature auditory behavior, suggesting auditory development delay.

Resumo Introdução A microcefalia é reconhecida como uma das principais consequências da síndrome congênita do Zika, mas outros problemas graves, como hipertonia global, irritabilidade, choro excessivo, distúrbios da deglutição, convulsões, deficiência visual e perda auditiva neurossensorial, foram identificados como associados à síndrome. Objetivo Descrever as características do desenvolvimento das habilidades auditivas e de linguagem no primeiro ano de vida de crianças com limiares auditivos normais e síndrome congênita do Zika. Método Estudo transversal que avaliou habilidades auditivas e de linguagem no primeiro ano de vida de 88 crianças com audição periférica normal e síndrome congênita do Zika confirmada. Todas as crianças foram submetidas a um teste auditivo comportamental e um questionário validado foi endereçado aos pais ou cuidadores e usado como instrumento para avaliar as habilidades auditivas e de comunicação. Resultados O atraso nas habilidades de comunicação estava presente em 87,5% das crianças, enquanto 44,3% delas apresentaram atraso nas habilidades auditivas. Somente a alteração do controle motor cervical apresentou associação estatisticamente significante com atrasos nas duas habilidades (valor de p = 0,006 e < 0,001 para habilidades auditivas e de comunicação, respectivamente), enquanto a presença de microcefalia e o grau de sua gravidade foram associados apenas ao atraso no desenvolvimento das habilidades de comunicação. Conclusão Apesar de um sistema auditivo periférico normal, crianças com síndrome congênita do Zika podem apresentar atraso no desenvolvimento da linguagem por apresentarem danos neurológicos no centro do processamento auditivo, exige estudos mais específicos para esclarecer a aquisição da linguagem nessa população.

Abstract Introduction Microcephaly is recognized as one of the main consequences of congenital Zika syndrome, but other serious problems such as global hypertonia, irritability, excessive crying, swallowing disorders, seizures, visual impairment and sensorineural hearing loss have been identified as associated with the syndrome. Objective Describe the developmental characteristics of hearing and language skills in the first year of life of children with normal hearing thresholds’ and congenital Zika syndrome. Methods This is a cross-sectional study that evaluated hearing and language skills in the first year of life of 88 children with normal peripheral hearing and confirmed congenital Zika syndrome. All children were submitted to a behavioral auditory test and a validated questionnaire addressed to parents or caregivers, which was used as an instrument for assessing hearing and communicative skills. Results The delay in communicative skills was present in 87.5% of the children, while 44.3% of them demonstrated a delay in hearing acuity. Only the alteration of cervical motor control presented as a statistically significant association with delays in both skills (p-value = 0.006 and <.001 for hearing and communicative skills, respectively), while the presence of microcephaly and the degree of its severity were only associated with delayed development of communicative skills. Conclusion Despite a normal peripheral auditory system, children with congenital Zika syndrome may demonstrate delayed language development by having neurological damage at the center of auditory processing, requiring more specific studies to clarify language acquisition in this population.

RESUMO Objetivo Caracterizar os parâmetros de aquisição, análise e resultados do exame Frequency Following Response (FFR) em usuários de implante coclear. Estratégia de pesquisa As buscas foram realizadas nas bases Cochrane Library, Literatura Latino-Americana e do Caribe em Ciências da Saúde (LILACS), Ovid Technologies, PubMed, SciELO, ScienceDirect, Scopus, Web of Science e na literatura cinzenta. Critérios de seleção Foram incluídos estudos sobre o FFR em usuários de implante coclear ou que os comparassem à indivíduos com audição normal, sem restrição de idade. Foram excluídos estudos secundários e experimentais. Não houve restrição de idioma e ano de publicação. Análise dos dados Os dados foram analisados e redigidos de acordo com as etapas do Preferred Reporting Items for Systematic Reviews and Meta-Analyse (PRISMA) 2020. Para análise da qualidade metodológica foi utilizado o instrumento Joanna Briggs Institute Critical Appraisal Checklist for Analytical Cross Sectional Studies. As divergências foram resolvidas por um terceiro pesquisador. Resultados Seis estudos atenderam aos critérios de inclusão. Apenas um estudo foi do tipo comparativo com grupo controle de indivíduos com audição normal. As variações nos parâmetros de aquisição foram comuns e as análises predominaram no domínio do tempo. Usuários de implante coclear apresentaram diferenças nos resultados do FFR quando comparados a indivíduos com audição normal, considerando a literatura existente. A maioria dos artigos teve baixa qualidade metodológica. Conclusão Não existe padronização de um protocolo de aquisição e análise para o FFR em usuários de implante coclear. Os resultados são de alto risco de viés.

ABSTRACT Purpose To characterize the acquisition parameters, analysis, and results of the frequency-following response (FFR) in cochlear implant users. Research strategies The search was conducted in Cochrane Library, Latin American and Caribbean Health Sciences Literature (LILACS), Ovid Technologies, PubMed, SciELO, ScienceDirect, Scopus, Web of Science, and gray literature. Selection criteria Studies on FFR in cochlear implant users or that compared them with normal-hearing people, with no restriction of age, were included. Secondary and experimental studies were excluded. There was no restriction of language or year of publication. Data analysis The data were analyzed and reported according to the stages in the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA), 2020. The methodological quality was analyzed with the Joanna Briggs Institute Critical Appraisal Checklist for Analytical Cross-Sectional Studies. Divergences were solved by a third researcher. Results Six studies met the inclusion criteria. Only one study was comparative, whose control group comprised normal-hearing people. The variations in acquisition parameters were common and the analysis predominantly approached the time domain. Cochlear implant users had different FFR results from those of normal-hearing people, considering the existing literature. Most articles had low methodological quality. Conclusion There is no standardized FFR acquisition and analysis protocol for cochlear implant users. The results have a high risk of bias.

Abstract A Short-finned Pilot Whale, Globicephala macrorhynchus, was found dead and with shark bites along its body on a beach in northeast Brazil. The present study aimed to identify the shark species responsible for the bites as well as to estimate its/their total length. Species identification was performed using the bite marks, which were of the same diameter, suggesting they were infected by one or more Tiger sharks of similar size. The characteristics of the bites and the shape and distribution of the marks left by the teeth pointed to the Tiger Shark, Galeocerdo cuvier. The total length of the Tiger Shark or sharks was estimated at between 257 and 288 cm, based on the perimeter contour of each bite and the interdental distance inferred from the marks on the whale. This suggests that the bites were inflicted by one or more sub-adult specimens.

Objective: To define the list of priority congenital anomalies for improving the registration in the Brazilian Live Birth Information System (Sinasc). Methods: Based on International Classification of Diseases, Tenth Revision (ICD-10), internation protocols and meetings with specialists, the list of priority anomalies was built considering two main criteria: being diagnosable at birth and having intervention available at different levels. The list was submitted for consideration by the Brazilian Society of Medical Genetics and Genomics. Results: The list comprised eight groups of congenital anomalies distributed according to the type of anomaly related, as well as the affect body part, all of which were related to some code of chapter XVII of ICD-10. Conclusion: The list of priority congenital anomalies for notification provides subsidies for improving registration at Sinasc.

Objetivo: Definir a lista de anomalias congênitas prioritárias para o aprimoramento do registro no Sistema de Informações sobre Nascidos Vivos (Sinasc). Métodos: A partir da Décima Revisão da Classificação Estatística Internacional de Doenças e Problemas Relacionados à Saúde (CID-10), protocolos internacionais e reuniões com especialistas, a lista de anomalias prioritárias foi construída considerando-se dois critérios principais: ser diagnosticável ao nascimento; e possuir intervenção disponível em diferentes níveis. A lista foi submetida a apreciação da Sociedade Brasileira de Genética Médica e Genômica. Resultados: Compuseram a lista oito grupos de anomalias distribuídos de acordo com o tipo de anomalia relacionada, bem como a parte do corpo afetada e sua correspondência ao código do capítulo XVII da CID-10. Conclusão: A lista de anomalias congênitas prioritárias para notificação fornece subsídios para o aprimoramento do registro no Sinasc.

RESUMO Objetivo: compreender as práticas de humanização no transcurso parturitivo na ótica de puérperas e enfermeiras obstétricas. Métodos: pesquisa exploratória, descritiva, qualitativa, desenvolvida em uma maternidade no estado da Bahia. Realizaram-se entrevistas semiestruturadas, com um roteiro estruturado aplicado a 11 puérperas e 5 enfermeiras obstétricas no período de março a junho de 2019. A análise seguiu a estrutura de conteúdo de Bardin. Resultados: o estudo desvelou a importância do uso de tecnologias leves de cuidado, respeito ao protagonismo feminino, participação ativa e autonomia da mulher como impacto positivo no transcurso parturitivo. Considerações finais: a enfermeira obstétrica é uma profissional qualificada para a assistência à mulher em trabalho de parto e nascimento, porque pode favorecer a implantação e implementação do cuidado com práticas de humanização, respeito às escolhas da mulher e incentivo à via de parto normal com o olhar ampliado às necessidades individuais e multiprofissionais.

ABSTRACT Objective: to understand humanization practices in the parturitive course from the point of view of purperae and nurse-midwives. Methods: an exploratory, descriptive, qualitative research carried out in a maternity hospital in Bahia State. Semi-structured interviews were carried out, with a structured script applied to 11 mothers and 5 nurse-midwives from March to June 2019. Analysis followed Bardin’s content structure. Results: this study unveiled the importance of using soft care technologies, respect for female role, active participation and women’s autonomy as a positive impact on the parturition process. Final considerations: nurse-midwives are qualified professionals to assist women in labor and birth. They can favor the implantation and implementation of care with humanization practices, respect for women’s choices and incentive to the normal way of delivery with an expanded view of individual and multidisciplinary needs.

RESUMEN Objetivo: comprender las prácticas de humanización en el curso del parto desde la perspectiva de las puerperales y matronas. Métodos: investigación exploratoria, descriptiva, cualitativa, desarrollada en una maternidad del estado de Bahía. Se realizaron entrevistas semiestructuradas, con guión estructurado aplicado a 11 puerperales y 5 matronas de marzo a junio de 2019. El análisis siguió la estructura de contenido de Bardin. Resultados: el estudio reveló la importancia del uso de tecnologías de cuidado ligero, el respeto al protagonismo femenino, la participación activa y la autonomía de las mujeres como un impacto positivo en el proceso del parto. Consideraciones finales: la matronaes un profesional calificado para asistir a las mujeres en el trabajo de parto y parto, porque puede favorecer la implantación e implementación de los cuidados con prácticas de humanización, respeto a las elecciones la mujer y fomentando la forma normal de parto con mirando las necesidades individuales y multiprofesionales.

ABSTRACT Objective: to understand humanization practices in the parturitive course from the point of view of purperae and nurse-midwives. Methods: an exploratory, descriptive, qualitative research carried out in a maternity hospital in Bahia State. Semi-structured interviews were carried out, with a structured script applied to 11 mothers and 5 nurse-midwives from March to June 2019. Analysis followed Bardin’s content structure. Results: this study unveiled the importance of using soft care technologies, respect for female role, active participation and women’s autonomy as a positive impact on the parturition process. Final considerations: nurse-midwives are qualified professionals to assist women in labor and birth. They can favor the implantation and implementation of care with humanization practices, respect for women’s choices and incentive to the normal way of delivery with an expanded view of individual and multidisciplinary needs.

RESUMEN Objetivo: comprender las prácticas de humanización en el curso del parto desde la perspectiva de las puerperales y matronas. Métodos: investigación exploratoria, descriptiva, cualitativa, desarrollada en una maternidad del estado de Bahía. Se realizaron entrevistas semiestructuradas, con guión estructurado aplicado a 11 puerperales y 5 matronas de marzo a junio de 2019. El análisis siguió la estructura de contenido de Bardin. Resultados: el estudio reveló la importancia del uso de tecnologías de cuidado ligero, el respeto al protagonismo femenino, la participación activa y la autonomía de las mujeres como un impacto positivo en el proceso del parto. Consideraciones finales: la matronaes un profesional calificado para asistir a las mujeres en el trabajo de parto y parto, porque puede favorecer la implantación e implementación de los cuidados con prácticas de humanización, respeto a las elecciones la mujer y fomentando la forma normal de parto con mirando las necesidades individuales y multiprofesionales.

RESUMO Objetivo: compreender as práticas de humanização no transcurso parturitivo na ótica de puérperas e enfermeiras obstétricas. Métodos: pesquisa exploratória, descritiva, qualitativa, desenvolvida em uma maternidade no estado da Bahia. Realizaram-se entrevistas semiestruturadas, com um roteiro estruturado aplicado a 11 puérperas e 5 enfermeiras obstétricas no período de março a junho de 2019. A análise seguiu a estrutura de conteúdo de Bardin. Resultados: o estudo desvelou a importância do uso de tecnologias leves de cuidado, respeito ao protagonismo feminino, participação ativa e autonomia da mulher como impacto positivo no transcurso parturitivo. Considerações finais: a enfermeira obstétrica é uma profissional qualificada para a assistência à mulher em trabalho de parto e nascimento, porque pode favorecer a implantação e implementação do cuidado com práticas de humanização, respeito às escolhas da mulher e incentivo à via de parto normal com o olhar ampliado às necessidades individuais e multiprofissionais.

Resumo Objetivo Definir a lista de anomalias congênitas prioritárias para o aprimoramento do registro no Sistema de Informações sobre Nascidos Vivos (Sinasc). Métodos A partir da Décima Revisão da Classificação Estatística Internacional de Doenças e Problemas Relacionados à Saúde (CID-10), protocolos internacionais e reuniões com especialistas, a lista de anomalias prioritárias foi construída considerando-se dois critérios principais: ser diagnosticável ao nascimento; e possuir intervenção disponível em diferentes níveis. A lista foi submetida a apreciação da Sociedade Brasileira de Genética Médica e Genômica. Resultados Compuseram a lista oito grupos de anomalias congênitas distribuídos de acordo com o tipo de anomalia relacionada, bem como a parte do corpo afetada e sua correspondência ao código do capítulo XVII da CID-10. Conclusão A lista de anomalias congênitas prioritárias para notificação fornece subsídios para o aprimoramento do registro no Sinasc.

Abstract Objective To define the list of priority congenital anomalies for improving their recording on the Brazilian Live Birth Information System (Sinasc). Methods Based on the International Statistical Classification of Diseases and Related Health Problems, Tenth Revision (ICD-10), international protocols and meetings with specialists, the list of priority anomalies was built considering two main criteria: being diagnosable at birth and having intervention available at different levels. The list was submitted for consideration by the Brazilian Medical Genetics and Genomics Society. Results The list comprised eight groups of congenital anomalies distributed according to the type of related anomaly, as well as the affected part of the body and its corresponding code in ICD-10 Chapter XVII. Conclusion The list of priority congenital anomalies for notification provides a basis for improving case recording on Sinasc.

Resumen Objetivo Definir la lista de anomalías congénitas prioritarias para perfeccionar el registro en el Sistema de Información de Nacidos Vivos (Sinasc). Métodos Con base en la Clasificación Internacional de Enfermedades, Décima Revisión (CIE-10), protocolos internacionales y reuniones con especialistas, la lista de anomalías prioritarias se construyó considerando dos criterios principales: ser diagnosticables al nacer y tener intervención disponible en diferentes niveles. La lista fue sometida a la consideración de la Sociedad Brasileña de Genética y Genómica Médica. Resultados La lista comprendía ocho grupos de anomalías congénitas distribuidos según el tipo de anomalía relacionada, así como la parte del cuerpo afectada, todos ellos relacionados con algún código del capítulo XVII de la CIE-10. Conclusión La lista de anomalías congénitas prioritarias para notificación proporciona subsidios para mejorar el registro en Sinasc.

Resumo Objetivo Definir a lista de anomalias congênitas prioritárias para o aprimoramento do registro no Sistema de Informações sobre Nascidos Vivos (Sinasc). Métodos A partir da Décima Revisão da Classificação Estatística Internacional de Doenças e Problemas Relacionados à Saúde (CID-10), protocolos internacionais e reuniões com especialistas, a lista de anomalias prioritárias foi construída considerando-se dois critérios principais: ser diagnosticável ao nascimento; e possuir intervenção disponível em diferentes níveis. A lista foi submetida a apreciação da Sociedade Brasileira de Genética Médica e Genômica. Resultados Compuseram a lista oito grupos de anomalias congênitas distribuídos de acordo com o tipo de anomalia relacionada, bem como a parte do corpo afetada e sua correspondência ao código do capítulo XVII da CID-10. Conclusão A lista de anomalias congênitas prioritárias para notificação fornece subsídios para o aprimoramento do registro no Sinasc.

Abstract Objective To define the list of priority congenital anomalies for improving their recording on the Brazilian Live Birth Information System (Sinasc). Methods Based on the International Statistical Classification of Diseases and Related Health Problems, Tenth Revision (ICD-10), international protocols and meetings with specialists, the list of priority anomalies was built considering two main criteria: being diagnosable at birth and having intervention available at different levels. The list was submitted for consideration by the Brazilian Medical Genetics and Genomics Society. Results The list comprised eight groups of congenital anomalies distributed according to the type of related anomaly, as well as the affected part of the body and its corresponding code in ICD-10 Chapter XVII. Conclusion The list of priority congenital anomalies for notification provides a basis for improving case recording on Sinasc.

Resumen Objetivo Definir la lista de anomalías congénitas prioritarias para perfeccionar el registro en el Sistema de Información de Nacidos Vivos (Sinasc). Métodos Con base en la Clasificación Internacional de Enfermedades, Décima Revisión (CIE-10), protocolos internacionales y reuniones con especialistas, la lista de anomalías prioritarias se construyó considerando dos criterios principales: ser diagnosticables al nacer y tener intervención disponible en diferentes niveles. La lista fue sometida a la consideración de la Sociedad Brasileña de Genética y Genómica Médica. Resultados La lista comprendía ocho grupos de anomalías congénitas distribuidos según el tipo de anomalía relacionada, así como la parte del cuerpo afectada, todos ellos relacionados con algún código del capítulo XVII de la CIE-10. Conclusión La lista de anomalías congénitas prioritarias para notificación proporciona subsidios para mejorar el registro en Sinasc.

Resumo A influência da herança genética tem sido cada vez mais investigada nas afecções do ombro, como a lesão do manguito rotador, instabilidade e ombro congelado. Ainda que os achados iniciais sejam pouco esclarecedores, é necessário construir progressivamente um banco de marcadores genéticos para catalogar perfis genômicos que, mais adiante, poderão contribuir para a previsão do risco da doença, desenvolvimento de melhores ferramentas de diagnóstico e tratamento. O presente artigo busca atualizar o que há de evidências de estudos genéticos na literatura para essas doenças, desde análises de polimorfismos, expressão de genes candidatos em tecidos e estudos de associação genômica ampla (GWAS, na sigla em inglês). Porém, é necessário apontar que existe grande dificuldade na replicação e utilização dos achados, principalmente em razão da falta de poder estatístico, da alta taxa de resultados falso-positivos e da grande quantidade de variáveis envolvidas.

Abstract The influence of genetic inheritance has been increasingly investigated in shoulder disorders, such as rotator cuff injury, instability and frozen shoulder. Although the initial findings are enlightening, it is necessary to progressively build a database of genetic markers to catalog genomic profiles that, later, may contribute for predicting the risk of the disease, as well as to the development of better diagnostic and treatment tools. The present article seeks to update what is evidence of genetic studies in the literature for these diseases, from polymorphism analyses, expression of candidate genes in tissues and broad genomic association studies (GWAS). However, it is necessary to point out that there is great difficulty in replicating and using the findings, mainly due to the lack of statistical power, the high rate of false-positive results and the large number of variables involved.