RESUMO Objetivo Identificar e correlacionar as queixas de alterações miofuncionais orofaciais e de risco para distúrbios respiratórios do sono com hábitos de sono na infância. Método Participaram 71 ...pais ou responsáveis de crianças de 6 a 11 anos, matriculadas em uma escola pública. Foi aplicado um formulário com questões semiestruturadas/anamnese e os protocolos Nordic Orofacial Test-Screening - entrevista, Pediatric Obstructive Sleep Apnea Screening Tool Questionnaire, e Children’s Sleep Habits Questionnaire - todos em suas versões em português/Brasil no formato online. Para a análise estatística, realizou-se o teste de correlação de Spearman, considerando o nível de significância de 5%. Resultados 29 crianças eram do sexo feminino (40,8%) e 42 do sexo masculino (59,2%), com média de idade de 8,52 anos. As queixas miofuncionais orofaciais encontradas foram relacionadas às funções de respiração (35,2%), mastigação e deglutição (32,4%) e hábitos deletérios (33,8%). Todas as crianças apresentaram um baixo risco para distúrbios respiratórios do sono e quanto aos hábitos de sono, 23 crianças (32,39%) apresentaram uma somatória menor, enquanto que 48 crianças (67,61%) ultrapassaram 41 pontos. Conclusão Houve correlação entre risco para distúrbios respiratórios do sono em crianças com as queixas de alterações miofuncionais orofaciais e com a baixa qualidade/maus hábitos de sono.
ABSTRACT Purpose To identify orofacial myofunctional complaints and sleep-disordered breathing and correlate them with sleep habits in childhood. Methods The study included 71 parents/guardians of public school children aged 6 to 11 years. They answered a form with semi-structured medical history questions and the Nordic Orofacial Test-Screening - interview, the Pediatric Obstructive Sleep Apnea Screening Tool Questionnaire, and the Children’s Sleep Habits Questionnaire - all of them in their Portuguese/Brazilian versions in an online format. Statistical analyses used Spearman’s correlation, setting the significance level at 5%. Results There were 29 female children (40.8%) and 42 male ones (59.2%), with a mean age of 8.52 years. The study found orofacial myofunctional complaints related to breathing functions (35.2%), chewing and swallowing (32.4%), and deleterious habits (33.8%). All children were at a low risk of sleep-disordered breathing. As for sleep habits, 23 children (32.39%) had a lower total score, whereas 48 children (67.61%) exceeded 41 points. Conclusion There was a correlation between the risk of sleep-disordered breathing in children with complaints of orofacial myofunctional disorders and poor sleep quality/habits.
Introdução: A punição corporal de crianças é uma prática recorrente que prejudica o seu desenvolvimento físico e emocional. Objetivo: apreender entendimentos e sentimentos de um grupo de crianças ...sobre a agressão física praticada por pais ou responsáveis. Materiais e Métodos: estudo descritivo, de abordagem qualitativa e uso do desenho-estória para responder ao estímulo indutor: o que vem à sua cabeça quando você ouve falar: “bater em criança”? Resultados: emergiram sentimentos de amor e ódio, culpa, tristeza, ressentimentos, desejo de vingança, vergonha e o entendimento de agressão física como uma atitude negativa e prejudicial. Conclusão: as crianças demonstraram ansiedade, timidez, agressividade, introspecção e tendência ao isolamento social. Para elas, as punições físicas constituíram episódios negativos que poderiam levá-las à morte, sugerindo que fossem substituídas por diálogo ou castigo.
Introdução: O estudo analisou as representações sociais de mulheres em situação de violência doméstica sobre a assistência jurídica. Materiais e Métodos: Pesquisa qualitativa, fundamentada na ...abordagem estrutural da Teoria das Representações Sociais. Participaram 80 mulheres em situação de violência doméstica. A coleta de dados foi realizada no Núcleo de Apoio à Mulher e na Delegacia Especializada de Atendimento à Mulher situada em um município baiano. Os dados foram coletados por meio da Técnica de Associação Livre de Palavras e entrevista semiestruturada. Os dados obtidos da TALP foram analisados com auxílio do software Ensemble des programmes permettant l'analyse des évocations e os dados das entrevistas foram organizados com base na Técnica de Análise de Conteúdo. Resultados: A análise do corpus constituído pelas evocações das 80 mulheres proporcionou a obtenção de 400 palavras cuja ordem média de foi em torno de três, em uma escala de um a cinco. Discussão: As representações sociais das mulheres sobre a assistência jurídica evidenciam de um lado que o atendimento jurídico é lento, moroso, ruim e constrangedor frente às demandas de violência doméstica e de outro lado orientam, amparam, direcionam e dão suporte à mulher, apesar de a necessidade de ser mais efetivo e ágil. Conclusões: Urge a necessidade de reestruturação do sistema judiciário por meio de práticas mais acolhedoras, humanizadas e ágeis às demandas da mulher em situação de violência, de modo a superar as práticas burocráticas e androcêntricas que a vulnerabilizam.
Socioeconomic status (SES) has been shown to influence language skills, with children of lower SES backgrounds performing worse on language assessments compared to their higher SES peers. While there ...is abundant behavioral research on the effects of SES, whether there are differences in the neural mechanisms used to support language skill is less established. In this study, we examined the relation between maternal education (ME), a component of SES, and neural mechanisms of language. We focused on Kindergarten children, at the beginning of formal reading education, and on a pre‐reading skill, phonological awareness—the ability to distinguish or manipulate the sounds of language. We determined ME‐related differences in neural activity by examining a skill‐matched sample of typically achieving 5‐year‐old children as they performed a rhyme judgment task. We examined brain lateralization in two language processing regions, the inferior frontal gyrus (IFG) and superior temporal gyrus (STG). In the IFG, lateralization was related to ME but not skill: children with low ME showed bilateral activation compared to children with higher ME who showed leftward lateralization. In the STG, there was a skill by ME interaction on lateralization, such that children with high ME showed a positive relation between rightward lateralization and skill and children with low ME showed a positive relation between leftward lateralization and skill. Thus, we demonstrated ME is related to differences in neural recruitment during language processing, yet this difference in recruitment is not indicative of a deficit in linguistic processing in Kindergarten children.
We investigated the relationship between maternal education, phonological awareness skill, and brain lateralization in Kindergarten children. We found laterality was related to maternal education, but not skill in the inferior frontal gyrus (IFG), while in the superior temporal gyrus (STG) the relationship between maternal education and laterality depended on skill level. Thus, maternal education is related to differences in neural recruitment during language processing, yet this difference in recruitment is not indicative of a deficit in linguistic processing in Kindergarten children.
Mutations in the PHEX gene lead to X-linked hypophosphatemia (XLH), a form of inherited rickets featuring elevated fibroblast growth factor 23 (FGF23), reduced 1,25-dihydroxyvitamin D (1,25D), and ...hypophosphatemia. Hyp mutant mice replicate the XLH phenotype, including dentin, alveolar bone, and cementum defects. We aimed to compare effects of 1,25D versus FGF23-neutralizing antibody (FGF23Ab) monotherapies on Hyp mouse dentoalveolar mineralization. Male Hyp mice, either injected subcutaneously with daily 1,25D or thrice weekly with FGF23 blocking antibody from 2 to 35 d postnatal, were compared to wild-type (WT) controls and untreated Hyp mice. Mandibles were analyzed by high-resolution micro–computed tomography (micro-CT), histology, and immunohistochemistry. Both interventions maintained normocalcemia, increased serum phosphate levels, and improved dentoalveolar mineralization in treated versus untreated Hyp mice. 1,25D increased crown dentin volume and thickness and root dentin/cementum volume, whereas FGF23Ab effects were limited to crown dentin volume. 1,25D increased bone volume fraction, bone mineral density, and tissue mineral density in Hyp mice, whereas FGF23Ab failed to significantly affect these alveolar bone parameters. Neither treatment fully attenuated dentin and bone defects to WT levels, and pulp volumes remained elevated regardless of treatment. Both treatments reduced predentin thickness and improved periodontal ligament organization, while 1,25D promoted a more profound improvement in acellular cementum thickness. Altered cell densities and lacunocanalicular properties of alveolar and mandibular bone osteocytes and cementocytes in Hyp mice were partially corrected by either treatment. Neither treatment normalized the altered distributions of bone sialoprotein and osteopontin in Hyp mouse alveolar bone. Moderate improvements from both 1,25D and FGF23Ab treatment regimens support further studies and collection of oral health data from subjects receiving a newly approved anti-FGF23 therapy. The inability of either treatment to fully correct Hyp mouse dentin and bone prompts further experiments into underlying pathological mechanisms to identify new therapeutic approaches.
The success of crizotinib in ALK-positive patients has elicited efforts to find new oncogenic fusions in lung cancer. These efforts have led to the discovery of novel oncogenic fusion genes such as ...ROS1 and RET. However, the molecular and clinicopathologic characteristics associated with RET or ROS1 fusion, compared with ALK fusion-positive lung cancer, remain unclear. We accordingly analyzed the clinicopathologic characteristics of RET- and ROS1-fusion-positive lung adenocarcinomas. We further performed immunohistochemistry and fluorescence in situ hybridization analysis (FISH) in 15 cases of RET and 9 cases of ROS1 fusion tumors by identified NanoString's nCounter screening. RET fusion-positive patients were younger in age, never-smokers, and in early T stage; ROS1 fusion-positive patients had a higher number of never-smokers compared with patients with quintuple-negative (EGFR-/KRAS-/ALK-/ROS1-/RET-) lung adenocarcinoma. Histologically, RET and ROS1 fusion tumors share the solid signet-ring cell and mucinous cribriform pattern, as previously mentioned in the histology of ALK fusion tumors. Therefore, it can be presumed that fusion gene-associated lung adenocarcinomas share similar histologic features. In immunohistochemistry, the majority of 15 RET and 9 ROS1 fusion-positive cases showed positivity of more than moderate intensity and cytoplasmic staining for RET and ROS1 proteins, respectively. In FISH, the majority of RET and ROS1 rearrangement showed two signal patterns such as one fusion signal and two separated green and orange signals (1F1G1O) and an isolated 3' green signal pattern (1F1G). Our study has provided not only characteristics of fusion gene-associated histologic features but also a proposal for a future screening strategy that will enable clinicians to select cases needed to be checked for ROS1 and RET rearrangements based on clinicohistologic features.
Anaplastic lymphoma kinase (ALK) fusion is the most common mechanism for overexpression and activation in non–small-cell lung carcinoma. Several fusion partners of ALK have been reported, including ...echinoderm microtubule-associated protein-like 4, TRK-fused gene, kinesin family member 5B, kinesin light chain 1 (KLC1), protein tyrosine phosphatase and nonreceptor type 3, and huntingtin interacting protein 1 (HIP1).
A 60-year-old Korean man had a lung mass which was a poorly differentiated adenocarcinoma with ALK overexpression. By using an Anchored Multiplex polymerase chain reaction assay and sequencing, we found that tumor had a novel translocated promoter region (TPR)-ALK fusion. The fusion transcript was generated from an intact, in-frame fusion of TPR exon 15 and ALK exon 20 (t(1;2)(q31.1;p23)). The TPR-ALK fusion encodes a predicted protein of 1192 amino acids with a coiled-coil domain encoded by the 5’-2nd of the TPR and juxtamembrane and kinase domains encoded by the 3’-end of the ALK.
The novel fusion gene and its protein TRP-ALK, harboring coiled-coil and kinase domains, could possess transforming potential and responses to treatment with ALK inhibitors. This case is the first report of TPR-ALK fusion transcript in clinical tumor samples and could provide a novel diagnostic and therapeutic candidate target for patients with cancer, including non–small-cell lung carcinoma.
Approximately 7% of non–small cell lung carcinomas (NSCLCs) harbor oncogenic fusions involving ALK , ROS1 , and RET . Although tumors harboring ALK fusions are highly sensitive to crizotinib, ...emerging preclinical and clinical data demonstrate that patients with ROS1 or RET fusions may also benefit from inhibitors targeting these kinases. Using a transcript-based method, we designed a combination of 3′ overexpression and fusion-specific detection strategies to detect ALK, ROS1 and RET fusion transcripts in NSCLC tumors. We validated the assay in 295 NSCLC specimens and showed that the assay is highly sensitive and specific. ALK results were 100% concordant with fluorescence in situ hybridization (FISH) ( n = 52) and 97.8% concordant with IHC ( n = 179) sensitivity, 96.8% (95% CI 91.0%–98.9%); specificity, 98.8% (95% CI 93.6%–99.8%). For ROS1 and RET , we also observed 100% concordance with FISH ( n = 46 and n = 15, respectively). We identified seven ROS1 and 14 RET fusion–positive tumors and confirmed the fusion status by RT-PCR and FISH. One RET fusion involved a novel partner, cutlike homeobox 1 gene ( CUX1 ), yielding an in-frame CUX1-RET fusion. ROS1 and RET fusions were significantly enriched in tumors without KRAS/EGFR/ALK alterations. ALK/ROS1/RET / EGFR/KRAS alterations were mutually exclusive. As a single-tube assay, this test shows promise as a more practical and cost-effective screening modality for detecting rare but targetable fusions in NSCLC.
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