12q21.2q22 deletion: a new patient.

Interstitial deletions of long arm of chromosome 12 are rare, and the interstitial deletion 12q21.1q22 has been reported to the best of our knowledge in only four patients. Comparing the patients reported, a characteristic phenotypic pattern (facial features like prominent forehead, short and upturned nose, low set ears, and ectodermal abnormalities) can be identified. It has been suggested to be considered a deletion syndrome [Klein et al., (2005); Am J Med Genet 138:349-354]. We report on a 34-month-old girl, who was referred to our clinic at 6 months of age, presenting at birth with axial hypotonia, enlarged anterior fontanel, ventriculomegaly, dysmorphic facies (prominent forehead, sparse hair and eyebrows, short palpebral fissures), failure to thrive and development delay. Her cytogenetic study showed an interstitial deletion of the long arm of chromosome 12: 46,XX,del(12)(q21.1q22) redefined by array comparative genomic hybridization. We compare and review our patient with the four previously reported cases, plus one with a deletion with an overlap of the chromosomal region and phenotypic similarities. As far as we know our patient is the fourth reported with this cytogenetic abnormality. This additional report allows us to support a genotype-phenotype correlation for this chromosomal abnormality.

"COVID-19 in Trials and Tribulations" Project: A Self-Regulation-Based Support Response for Confined Families through Social Networks.

The COVID-19 pandemic has placed today's society in an unprecedented scenario. During Portugal's first home confinement period (March-July 2020), the online-based "COVID-19 in Trials and Tribulations" project was implemented to support families with school-aged children. The project was grounded on the self-regulation framework and delivered through Facebook® and Instagram® pages. Being responsive to ongoing developments of the pandemic, activities were conveyed in two phases. Phase 1 occurred during lockdown (school was suspended). Phase 2 occurred while students were enrolled in at-distance (online) school. The present study aimed to examine the reach of the project, while examining the content and format of delivery that generated the most engagement among the users (4500 Facebook® effective followers; 1200 Instagram® effective followers) during the confinement period. Results showed that, at the individual page level, Facebook® had higher reach indicators compared to Instagram®, except for video. At the Facebook® post level, followers and users showed more engagement with the page prior to the at-distance schooling phase; however, videos still generated engagement (p = 0.002). Both the post type (p < 0.01) and frequency (p < 0.001) of publication were suggested to be good predictors of engagement. The information gathered will help design and inform future interventions that may be implemented as new lockdowns are set in place.

Promote Selective Attention in 4th-Grade Students: Lessons Learned from a School-Based Intervention on Self-Regulation.

Academic success is a complex concept comprising not only good academic performance, but also the development of competencies and the accomplishment made by the ends of learning. Among the motivational and attentional variables likely to influence academic success, extant literature reports the relevance of developing self-regulation and attentional control to foster school success. Still, little is known about how to foster attentional control competencies through training on self-regulated learning strategies. The present study aims are twofold: (i) to assess the efficacy of a program targetted to promote self-regulation strategies on attentional control, specifically in selective attention, and (ii) to explore the role of selective attention on arithmetic performance. Participants were 136 fourth grade students, aged from 8 to 11 years old. Of those, 68 were enrolled in a school-based intervention aimed to promote self-regulation. At the end of the intervention, the experimental group showed higher levels of self-regulation and selective attention that were significantly different when compared to the control group. The SR training has influenced positively participants SA with impact on their arithmetic competencies. The findings of this study can provide relevant insight to better understand these variables and to design better in-class practices.

Genomic imbalances defining novel intellectual disability associated loci.

BACKGROUND: High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contributing to disease etiology. The aim of this work was to identify novel genetic causes of neurodevelopmental disease, inferred from CNVs detected by array comparative hybridization (aCGH), in a cohort of 325 Portuguese patients with intellectual disability (ID). RESULTS: We have detected CNVs in 30.1% of the patients, of which 5.2% corresponded to novel likely pathogenic CNVs. For these 11 rare CNVs (which encompass novel ID candidate genes), we identified those most likely to be relevant, and established genotype-phenotype correlations based on detailed clinical assessment. In the case of duplications, we performed expression analysis to assess the impact of the rearrangement. Interestingly, these novel candidate genes belong to known ID-related pathways. Within the 8% of patients with CNVs in known pathogenic loci, the majority had a clinical presentation fitting the phenotype(s) described in the literature, with a few interesting exceptions that are discussed. CONCLUSIONS: Identification of such rare CNVs (some of which reported for the first time in ID patients/families) contributes to our understanding of the etiology of ID and for the ever-improving diagnosis of this group of patients.

[Interdisciplinary home hospitalization program of Marília-SP: material resource costs]. / Programa interdisciplinar de internação domiciliar de Marília-SP: custos de recursos materiais consumidos.

This study estimated the mean total direct cost of some production factors (material resources), including consumption materials, diets, medication and solutions used by two patient groups during hospitalization in the Interdisciplinary Home Hospitalization Program (PROIID) of Marília-SP, Brazil. The sample consisted of 27 patients with a diagnosis of cerebral vascular accident (CVA) and 18 with Neoplasm. Data were collected from the moment of hospitalization until the patients left the program. The mean total direct cost amounted to R$ 52.72 for each patient with CVA and of R$ 65.13 for those with Neoplasm. For both patient groups, the sub-category of material--diets accounted for the highest percentage of costs.

Diagnóstico de enfermagem de pacientes e cuidadores de um programa de internação domiciliar / Nursing diagnoses of patients and caregivers in a homecare program / Diagnósticos de enfermería de pacientes y cuidadores de um programa de internación domiciliária

Ao atuar em programa de internação domiciliar, deve-se atentar para as necessidades do binômio paciente/cuidador, o que implica a delimitação clara e abrangente das condições que demandam cuidados. Neste estudo, propõe-se identificar os diagnósticos de enfermagem segundo a North American Nursing Diagnosis (NANDA), relativos a pacientes e cuidadores internados no Programa de Interdisciplinar de Internação Domiciliar (PROIID). Foram verificados os registros, feitos no momento da internação, de 23 prontuários de pacientes que haviam recebido alta do programa. Os pacientes apresentaram, em média, cinco diagnósticos, sendo os mais freqüentes a deglutição prejudicada, a mobilidade física prejudicada no leito, a comunicação verbal e a integridade tissular prejudicadas. Já os cuidadores apresentaram os diagnósticos de conhecimento deficiente, tensão devida ao papel de cuidador e processos familiares interrompidos. Constatou-se que cuidadores e idosos apresentam necessidades complexas que demandam acompanhamento sistemático da equipe com a finalidade de mantê-los em condições físicas e emocionais para o estabelecimento de uma relação de cuidado segura e equilibrada.

In a home care program one must pay attention to the patient's and caretaker's necessities. It is necessary to focus the conditions which clearly and widely demand care. This study aims at identifying nursing diagnoses of patients and caretakers admitted to PROIID, according to NANDA standards. There were checked admission and discharging records of 23 patients who participated in the program. The average patients presented five diagnoses. The most frequent ones were: handicapped swallowing, physical mobility by staying in bed, verbal communication and tissue integrity. The caretakers presented diagnoses of deficient knowledge, tension and disrupted family processes. One realizes that caretakers and the elderly have complex necessities which require team systematic follow up in order to keep them in good emotional and physical conditions so caretaking may be balanced and safe.

Al actuar en programa de internación domiciliaría se debe fijar en las necesidades del binomio paciente/curador y para esto es necesaria una delimitación clara de las condiciones que demandan cuidados. El presente estudio se propone a identificar los diagnósticos de enfermería según NANDA a pacientes y cuidadores internados en el PROIID. Fueran verificados los registros, desde el momento de la internación, de 23 prontuarios de pacientes que habían recibido alta del programa. Los pacientes presentaran, un promedio de cinco diagnósticos, siendo los más frecuentes la deglución perjudicada, movilidad física perjudicada en el lecho, comunicación verbal perjudicada e integridad tisular perjudicada. Ya los cuidadores presentaran el diagnóstico de conocimiento deficiente, tensión por el papel de curador y procesos familiares interrumpidos. Cuidadores y mayores presentan necesidades complejas que demandan acompañamiento del equipo con la finalidad de mantenerlos en condiciones físicas y emocionales para el establecimiento de una relación de cuidado con seguridad y equilibrio.

Programa interdisciplinar de internação domiciliar de Marília-SP: custos de recursos materiais consumidos / Interdisciplinary home hospitalization program of Marília-SP: material resource costs

Este estudo estimou o custo médio direto total de alguns fatores produtivos (recursos materiais) como material de consumo, dietas, medicamentos e soluções utilizados por dois grupos de pacientes internados no Programa Interdisciplinar de Internação Domiciliar de Marília-SP. A amostra foi constituída de 27 pacientes com acidente vascular cerebral (AVC) e 18 com neoplasia. Os dados foram coletados do momento da internação até a saída do Programa. O custo médio direto total foi de R$ 52,72 para cada paciente com AVC e de R$ 65,13 para aqueles com neoplasia. Para ambos os grupos de pacientes, a subcategoria de material - dietas - respondeu, em termos de custos, pelo maior percentual

Ocorrência de Salmonella sp. em carcaças de frango abatidos e comercializados em municipios do estado de Goiás / Occurence of Salminella sp. in carcasses of broilers slaughtwered and marketed in cities of state of Goiás Brazil

Salminella sp. é frequentemente isolada em alimentos de origem avícola, sendo uma das principais causas da doenças trasmitidas por alimentos no Brasil, bem como representa risco à segurança alimentar...

O Programa Interdisciplinar de Internação Domiciliar de Marília –SP: a visão dos cuidadores / The Marilia City Home Care Interdisciplinary Program: the carers view

Este estudo focaliza o Programa Interdisciplinar de Internação Domiciliar de Marília-SP. O objetivo proposto foi verificar a opinião dos cuidadores quanto a atuação dos profissionais e assistência prestada, bem como coletar sugestões para melhoria do programa. Estudo descritivo e os resultados apontam, quando questionados em relação a atuação dos profissionais como ótimo, sendo de maior satisfação as visitas das auxiliares de enfermagem (84 por cento) e de menor satisfação a da fisioterapia (49 por cento). Em se tratando ao horário de visitas (74 por cento) responderam como ótimo. O número de visitas, em (78 por cento) foi avaliado da mesma maneira, e o número de intercorrências em (19 por cento) foi avaliado como ótimo.