A percepção dos colaboradores de uma empresa do ramo metal mecânico de Santa Catarina quanto ao uso do ERP

Monografia apresentada ao Setor de Pós-graduação da Universidade do Extremo Sul Catarinense - UNESC, para a obtenção do título de MBA em Gestão Estratégica de Finanças e Controladoria.A Tecnologia da Informação vem se tornando parte fundamental do mundo corporativo há mais de vinte anos. Por meio da integração de dados, informações e processos, os sistemas de Planejamento de Recursos Empresariais (Enterprise Resource Planning – ERP) vêm se destacando na preferência de médias e grandes corporações, visto que tendem a facilitar e otimizar os processos de trabalho. Complexas são as formas de se avaliar os benefícios de uma implantação perante estes custos. A literatura cita a necessidade além da questão financeira. Subsídios humanos e organizacionais refletem também a influência de uma ferramenta no desempenho do trabalho. Com o intuito de auxiliar na avaliação dos benefícios da utilização de um sistema ERP, essa pesquisa buscou descrever a percepção dos usuários de ERP de uma empresa do ramo metal mecânico de Santa Catarina sob a ótica da produtividade, inovação, satisfação do cliente e controle gerencial. Optou-se por realizar uma pesquisa com abordagem quantitativa e descritiva, por meio do método survey. Um questionário criado e validado por Torkzadeh e Doll (1988) foi adaptado e validado pela autora para realizar análise dos dados coletados e, também, verificar a influência da utilização de um sistema ERP no desempenho do usuário conforme sua própria percepção e relacionar as características específicas dos participantes com as respostas obtidas. Ainda, averiguar a percepção dos usuários finais quanto à utilidade dos resultados obtidos por intermédio do sistema para os usuários do nível gerencial. Os resultados demonstram a predominante concordância quanto à supressão de todas as necessidades, melhoramento do serviço e possibilidade de proposição de novas ideias, ainda que a maioria acredite em pouca influência na produtividade direta. Observou-se também a tendência dos mais jovens e com menos tempo de empresa em acreditar na melhoria dos processos como um todo a partir da utilização do sistema. O destaque foi a convicção dos entrevistados quanto aos benefícios para os colaboradores de nível gerencial. Um número expressivo de participantes acredita que o sistema satisfaz com mais afinco as necessidades dos gestores

A rare case of Beckwith–Wiedemann syndrome caused by a de novo microduplication at 11p15.5 of paternal origin

Beckwith–Wiedemann syndrome (BWS) is a disorder of growth regulation exhibiting somatic overgrowth and predisposition to paediatric tumours. With an incidence estimated at 1 in 13,700, it is caused by various epigenetic and/or genetic alterations associated with disturbances within two different 11p15 domains that are controlled by distinct imprinting control regions (ICR), ICR1 and ICR2. The majority of patients have abnormalities within ICR2 presenting hypomethylation, while less frequent aetiologies include mosaic paternal 11p uniparental disomy (11patUPD), maternally inherited mutations of the CDKN1C gene, and hypermethylation of ICR1. A few patients have cytogenetic abnormalities involving 11p15.5. Since the subgroups are associated with different recurrence risks, the identification of the molecular cause of BWS is particularly important for the follow-up of the patient and the genetic counselling of both the patient and the family. Here, we report a 13-year-old girl with clinical diagnosis of BWS presenting macrosomia, umbilical hernia, kidney abnormalities, hydramnius, prematurity, typical face, advanced bone age, moderate developmental delay, prominent occiput and forehead, round face, epicanthus, short nasal bridge, and microretrognathia. Cytogenetic analysis with highresolution banding showed an apparently normal karyotype. Microsatellite analysis and methylationspecific multiplex ligation-dependent probe amplification revealed a de novo microduplication at 11p15.5 of paternal origin. Duplication has a minimum size of 600 kb, covering only ICR1, not affecting ICR2. This sporadic case with a de novo duplication without other chromosomal abnormalities makes genotype–phenotype correlation difficult. As far as we know, this is one of the smallest duplications associated with BWS and is consistent with the independent regulation of ICR1 and ICR2. Our patient presented moderate developmental delay and craniofacial features typical of 11p15 duplication. Future studies exploiting this subtle 11p15.5 rearrangement will provide an important tool to further dissecting the genomics of BWS region and the pathogenesis of this imprinting disorder

Molecular characterization of a rare analphoid supernumerary marker chromosome derived from 7q35 → qter: a case report

Analphoid supernumerary marker chromosomes (aSMC) constitute one of the smallest groups of SMC, and are characterized by a centromeric constriction but no detectable alpha-satellite DNA. These marker chromosomes cannot be properly identified by conventional banding techniques alone, and molecular cytogenetic methods are necessary for a detailed characterization. Analphoid SMC derived from chromosome 7 are extremely rare, with only five cases reported so far.info:eu-repo/semantics/publishedVersio

Uma análise comparativa do uso do livro didático de ciências por professores da educação básica: A comparative analysis of the use of science textbooks by basic education teachers

Este artigo apresenta a análise comparativa de como as professoras de ciências utilizam o Livro Didático (LD) em suas aulas. As comparações emergiram das pesquisas de mestrado das autoras e referem-se às professoras da Educação Básica dos municípios de Ouro Preto e Mariana – Minas Gerais.  Assim, buscamos compreender como esses profissionais, que ensinam Ciências, utilizam esse recurso didático e as percepções das docentes sobre o tema. Numa dimensão mais individual, os professores avaliam, usam e modificam as informações disponibilizadas em materiais de formação em função do seu trabalho diário. Considerando a dimensão social do trabalho do professor que ensina ciências,  indagamos se os programas de formação inicial e continuada de professores consideram o contexto de trabalho desse profissional.  Diante dos modos de utilização do Livro Didático pelos professores de ciências da Educação Básica, consideramos as apropriações bem como o que o professor não utiliza e, ainda, considerando que o saber docente  é múltiplo e muitas vezes individual, concluímos que é oportuno que o professor de Ciências esteja em constante aperfeiçoamento e atualização do conhecimento para superar as limitações didático-pedagógicas e ao mesmo tempo, inovar o ensino numa perspectiva mais investigativa e menos conceitual

Percepción de los padres de la adquisición y pérdida de palabras en el autismo : un estudio comparativo

Some children with Autism Spectrum Disorder (ASD) experience the loss of previously acquired abilities, especially that of using words, a phenomenon that is still poorly understood. This study aimed to investigate parents’ perceptions of the age of word acquisition and word loss in individuals with ASD as compared to children with Down Syndrome (DS) and those with typical development (CG). Parents of 77 individuals with ASD, 33 with DS, and 63 from CG completed an inventory on the loss of words and developmental abilities. The median age of acquisition of the first words was 14 months for the ASD group, approximately 4 months after those in CG, and 23 months for the SD group. Word loss occurred only in the ASD group (36.4%). The median age of loss was 18 months. Parents’ perception of word loss can contribute to the understanding of this phenomenon as a potential early ASD indicatorAlgumas crianças com Transtorno do Espectro Autista (TEA) apresentam perda de habilidades previamente adquiridas, especialmente a de utilização de palavras, fenômeno ainda pouco compreendido. O objetivo deste estudo foi investigar a percepção dos pais sobre a idade de aquisição e perda de palavras em indivíduos com TEA, comparados a crianças com Síndrome de Down (SD) e desenvolvimento típico (GC). Pais de 77 indivíduos com TEA, de 33 com SD e 63 do GC preencheram um inventário sobre perda de palavras e habilidades de desenvolvimento. A mediana da idade de aquisição das primeiras palavras foi 14 meses no TEA, em torno de quatro meses após o GC, e 23 meses no grupo SD. A perda de palavras ocorreu apenas no grupo TEA (36,4%). A mediana da idade da perda foi 18 meses. A percepção dos pais sobre a perda de palavras pode contribuir para o entendimento desse fenômeno como um potencial indicador precoce do TEA.Algunos niños con trastorno del espectro autista (TEA) experimentan la pérdida de habilidades previamente adquiridas, especialmente palabras, un fenómeno que aún no se comprende bien. El objetivo de este estudio fue investigar la percepción de los padres sobre laedad de adquisición y la perdida de las primeras palabras em indivíduos con TEA, Síndrome de Down (SD) y grupo control típico (GC). Padres de 77 individuos con TEA, 33 com SD y 63 del GC respondieron un inventario de pérdida de vocabulario y habilidades de desarrollo. La mediana de edad de adquisición de las primeras palabras fue 14 meses em el TEA, alrededor de 4 meses más tarde que el GC, y 23 meses en el grupo SD. La pérdida de vocabulário fue observada solamente em el grupo TEA (36,4%). En este grupo la mediana de edad de ocurrencia de la pérdida fue 18 meses. La percepción de los padres de la pérdida de vocabulário puede contribuir a la comprensión de este fenómeno como un potencial indicador precoz del TEA

Percepção parental sobre aquisição e perda de palavras no autismo: estudo comparativo

Some children with Autism Spectrum Disorder (ASD) experience the loss of previously acquired abilities, especially that of using words, a phenomenon that is still poorly understood. This study aimed to investigate parents’ perceptions of the age of word acquisition and word loss in individuals with ASD as compared to children with Down Syndrome (DS) and those with typical development (CG). Parents of 77 individuals with ASD, 33 with DS, and 63 from CG completed an inventory on the loss of words and developmental abilities. The median age of acquisition of the first words was 14 months for the ASD group, approximately 4 months after those in CG, and 23 months for the SD group. Word loss occurred only in the ASD group (36.4%). The median age of loss was 18 months. Parents’ perception of word loss can contribute to the understanding of this phenomenon as a potential early ASD indicator.Algunos niños con trastorno del espectro autista (TEA) experimentan la pérdida de habilidades previamente adquiridas, especialmente palabras, un fenómeno que aún no se comprende bien. El objetivo de este estudio fue investigar la percepción de los padres sobre laedad de adquisición y la perdida de las primeras palabras em indivíduos con TEA, Síndrome de Down (SD) y grupo control típico (GC). Padres de 77 individuos con TEA, 33 com SD y 63 del GC respondieron un inventario de pérdida de vocabulario y habilidades de desarrollo. La mediana de edad de adquisición de las primeras palabras fue 14 meses em el TEA, alrededor de 4 meses más tarde que el GC, y 23 meses en el grupo SD. La pérdida de vocabulário fue observada solamente em el grupo TEA (36,4%). En este grupo la mediana de edad de ocurrencia de la pérdida fue 18 meses. La percepción de los padres de la pérdida de vocabulário puede contribuir a la comprensión de este fenómeno como un potencial indicador precoz del TEA.Algumas crianças com Transtorno do Espectro Autista (TEA) apresentam perda de habilidades previamente adquiridas, especialmente a de utilização de palavras, fenômeno ainda pouco compreendido. O objetivo deste estudo foi investigar a percepção dos pais sobre a idade de aquisição e perda de palavras em indivíduos com TEA, comparados a crianças com Síndrome de Down (SD) e desenvolvimento típico (GC). Pais de 77 indivíduos com TEA, de 33 com SD e 63 do GC preencheram um inventário sobre perda de palavras e habilidades de desenvolvimento. A mediana da idade de aquisição das primeiras palavras foi 14 meses no TEA, em torno de quatro meses após o GC, e 23 meses no grupo SD. A perda de palavras ocorreu apenas no grupo TEA (36,4%). A mediana da idade da perda foi 18 meses. A percepção dos pais sobre a perda de palavras pode contribuir para o entendimento desse fenômeno como um potencial indicador precoce do TEA

A complex chromosomal rearrangement in a child with developmental delay, fractious behavior, and craniofacial anomalies, compatible with Smith-Magenis Syndrome

Smith-Magenis Syndrome (SMS) is a micro-deletion syndrome, and encompasses a picture of dysmorphology, mental defect, and fractious behavior. Evaluation of complex chromosome rearrangements (CCRs) and their potential phenotypic consequences is a common challenge in the genetics clinic and knowledge about the genotype/phenotype relationships are limited. We report the case of a 14-year-old boy who was referred by SMS, presenting developmental delay, fractious behavior, reduced sensitivity to pain, macrocranium and distinctive facial features. Following karyotyping, fluorescence in situ hybridization (FISH) using WCP probes for the chromosomes involved in CCR and 17p11.2 probe for SMS region was performed. Lately, chromosomal Comparative Genomic Hybridization (cCGH) and genomic microarray studies were also performed in order to identify genomic imbalances. The cytogenetic analysis revealed a karyotype: 46,XY,inv(3)(p23q27)t(3;10)(p13.2;p11.2),inv(14)(q13q32)dn.ish inv(3)t(3;10)(wcp10+), der(10)t(3;10)(wcp3+),inv(14)(wcp14+). Parental karyotypes were normal, although the father presented a marked cognitive delay. FISH analyses showed no deletion in 17p11.2 region and confirmed the cytogenetic results, namely the presence of CCR. Additionally, cCGH and genomic microarray studies did not reveal any gains/losses of genetic material in the breakpoints regions. Despite the clinical features of SMS, deletions or duplications in the SMS critical region were not detected in this patient. However, a small number of SMS present a mutation in the RAI1 gene instead of a 17p11.2 deletion, the former cause could not be excluded On the other hand, in CCRs de novo, an apparently balanced karyotype may be associated with an abnormal phenotype, including an increased risk of intellectual delay and congenital malformations. Further studies comprising, e.g., sequencing of the breakpoints, chromatin conformation analysis and refinement of the SMS critical region analysis might be useful to elucidate the phenotypic characteristics. However, the patient has been absent of routine clinical reevaluation; the etiology of the father’s cognitive delay could help shedding some light on the patient phenotypic features

A rare de novo unbalanced complex rearrangement involving chromosomes 12, 18 and 20 in a child with dysmorphic features

Complex chromosomal rearrangements (CCRs) are rare structural abnormalities that involve three or more breakpoints located on two or more chromosomes and are often associated with developmental delay, mental retardation and congenital anomalies. Here, we report the case of a rare de novo CCR in a girl who was 9 months old when first reported to us. At 15 months old, her clinical features included marked hypotonia, severe psychomotor delay, progressive postnatal microcephaly, strabismus, depressed nasal root, hands and feet malformations, heart defects, recurrent respiratory infections and bilateral hearing deficit still in study. Conventional cytogenetic analysis revealed an unbalanced complex rearrangement, involving chromosomes 12, 18 and 20, and an apparent loss of material of chromosome 18 resulting from an interstitial deletion. Further molecular cytogenetic studies were performed: whole chromosome painting probes for the involved chromosomes and chromosomal comparative genomic hybridization. These studies revealed that apparently no other chromosomes were involved and confirmed a del(18)(q21.1q22) of approximately 17 Mb on the derivative chromosome 18. The latter chromosome also had material from der(12) to der(20) in its constitution. As most CCRs involving chromosome 18q show rearrangements in the q21, some authors argue that this region might be a breakpoint “hotspot”. On the other hand, cases of single deletions on 18q are predominantly terminal. Interstitial deletions are much rarer, and to our knowledge, this is the first report of a CCR with a del(18)(q21.1q22). The phenotype of patients with deletions within this region, reported so far, seems very similar to the one of our patient, and this may contribute to a better understanding of the genotype–phenotype correlation in this type of structural abnormalities

Production and purification of influenza virus like particles using single-use technologies

There is an increasing trend in the biopharmaceutical market towards the implementation of single-use technologies (SUT) in bioprocesses. These technologies address the needs of bio therapeutic development and manufacturing with appealing advantages over the conventional systems. SUT can be operated at lower costs, eliminating the need for cleaning and regeneration of components, improving process-to-process turnaround, being more flexible enabling modular facilities, and easy to scale up. This work describes the up and downstream processing of Influenza Virus-like particles (VLPs), produced using the baculovirus expression system with High Five cells. The single-use Mobious ®Bioreactor is compared with a glass stirred tank in terms of growth kinetics, cell viability, stability and VLPs production, showing comparable results. The use of this single-use bioreactor was already reported by our group for the successful production of a hepatitis C VLP vaccine candidate. Moreover, we report on the development of a single-use platform process for purification of Influenza VLPs. We have undertaken an effort to replace chromatographic steps from our platform, with the ultimate goal of an all filtration purification process. The proposed process employs either normal or tangential flow filtration for the clarification stage, followed by a cascade of ultrafiltration steps with different pore sizes and a sterile filtration step to achieve the needed concentration and purity specifications. Efforts to clear nucleic acid without the use of an endonuclease digestion step and the impact on the downstream unitary operations will also be described. By optimizing the filtration mode of operation we were able to achieve product recoveries of 80%. Globally, we have about 1.8 log reduction value (LRV) of DNA and total protein removal and a baculovirus’ LRV of 4. Overall, using SUT across all biomanufacturing operations we are able to speed up the process, to improve the scale-up and to reduce costs due to the removal of chromatographic and cleaning and validation steps

Newborn whit a derivative chromosome X and ambiguous genitalia

Translocations involving the short arms of the X and Y in human chromosomes are uncommon. One of the primary functions of the X and Y chromosomes is gender phenotype determination. Here we report a newborn female with ambiguous genitalia and abnormal X chromosome. Karyotype was performed using the standard methods and Fluorescence in situ hybridization (FISH) directed for the SRY gene was used for confirmation of the clinical and cytogenetic suspicion. Chromosomal microarray analysis (CMA) was performed using CytoScan HD (Affimetrix®) to identified gains/loses on the der(X) chromosome. The analyse revealed one abnormal X chromosome in a female karyotype. Considering the ambiguous genitalia clinical information the abnormal X was considered to be compatible with a translocation X/Y. This was confirmed by the presence of signal for the SRY using FISH. CMA allowed to clarify a loss of 12.34 Mb at Xp22.33p22.2 and a gain of 7.41 Mb at Yp11.31p11.2 (ISCN = arr[GRCh37] Xp22.33p22.2(2703632_15050955)x1,Yp11.31p11.2(2650140_10059230)x1). The X deleted region includes several OMIM morbid genes, including CLCN4. Mutations in CLCN4 are associated with intellectual disability and impaired language development, and heterozygous females can be as severely affected as male. The gain on the Y encompasses nine OMIM genes, including the SRY gene, involved in the sexual male development. This additional information can be of great value for the child development. Translocations of segments of Y chromosome containing SRY are described in sexual reversion and true hermafroditism cases, which could explain the reason for referral for the newborn. Nevertheless, translocations between the X/Y chromosomes in females are expected to have a skewed inativation pattern in favour of the abnormal X and X-inativation studies could prove this likelihood. If a normal developmental of the child is observed over time this will be likely due to the preferable inativation of the abnormal X. Presently the child is about 1-year-old and she presents normal uterus, ovarian, and external genitalia, with absence of male gonads. No other clinical features have been identified.N/