Non-surgical management of chronic periodontitis with two local drug delivery agents-A comparative study

Background: The selective removal or inhibition of pathogenic microbes with locally delivered antimicrobials when combined with scaling and root planing is often an effective approach for the managment of chronic periodontitis. Aim: To compare the clinical efficacy of tetracycline fibers and a xanthan based chlorhexidine gel in the treatment of chronic periodontitis. Methods and materials: Thirty systemically healthy patients in the age group of 30-50 years suffering from generalized chronic moderate periodontitis were selected. For each subject, two experimental sites were chosen that had probing depth >5mm and were located in symmetric quadrants and the sites were randomized at split mouth level with one receiving tetracycline fibers and the other chlorhexidine gel. Plaque score, bleeding score, probing pocket depth and relative attachment level gain was recorded on day 0 and at the end of 3 months. Results and conclusion: In both groups, there was statistically highly significant reduction in all the clinical parameters i.e. plaque score, bleeding score and probing pocket depth and relative attachment level gain was seen at different time intervals. Local delivery of tetracycline and chlorhexidine is a safe, easy and efficacious method along with scaling and root planing in the treatment of chronic periodontitis. Inter-comparison of both local drug delivery agents with respect to clinical changes shows that tetracycline fibers are better than chlorhexidine gel for treatment of chronic periodontitis. Nevertheless, long term studies with more samples are suggested to further evaluate and compare the efficacy of both materials

Primary immune thrombocytopenia responding to antithyroid treatment in a patient with Graves’ disease

published_or_final_versionSpringer Open Choice, 21 Feb 201

Extranodal Natural-Killer/T-Cell Lymphoma, Nasal Type

The World Health Organization (WHO) classification recognizes 2 main categories of natural killer (NK) cell-derived neoplasms, namely, extranodal NK/T-cell lymphoma, nasal type, and aggressive NK-cell leukaemia. Extranodal nasal NK/T-cell lymphoma is more frequent in the Far East and Latin America. Histopathological and immunophenotypical hallmarks include angiocentricity, angiodestruction, expression of cytoplasmic CD3 epsilon (ε), CD56, and cytotoxic molecules and evidence of Epstein-Barr virus (EBV) infection. Early stage disease, in particular for localized lesion in the nasal region, is treated with chemotherapy and involved-field radiotherapy. On the other hand, multiagent chemotherapy is the mainstay of treatment for advanced or disseminated disease. L-asparaginase-containing regimens have shown promise in treating this condition. The role of autologous hematopoietic stem cell transplantation is yet to be clearly defined. Allogeneic hematopoietic stem cell transplantation, with the putative graft-versus-lymphoma effect, offers a potentially curative option in patients with advanced disease

NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy

Nearly half of all human proteins are acetylated at their N-termini by the NatA N-terminal acetyltransferase complex. NAA10 is evolutionarily conserved as the catalytic subunit of NatA in complex with NAA15, but may also have NatA-independent functions. Several NAA10 variants are associated with genetic disorders. The phenotypic spectrum includes developmental delay, intellectual disability, and cardiac abnormalities. Here, we have identified the previously undescribed NAA10 c.303C>A and c.303C>G p.(N101K) variants in two unrelated girls. These girls have developmental delay, but they both also display hemihypertrophy a feature normally not observed or registered among these cases. Functional studies revealed that NAA10 p.(N101K) is completely impaired in its ability to bind NAA15 and to form an enzymatically active NatA complex. In contrast, the integrity of NAA10 p.(N101K) as a monomeric acetyltransferase is intact. Thus, this NAA10 variant may represent the best example of the impact of NatA mediated N-terminal acetylation, isolated from other potential NAA10-mediated cellular functions and may provide important insights into the phenotypes observed in individuals expressing pathogenic NAA10 variants.publishedVersio

Delayed diagnosis of 22q11.2 deletion syndrome in an adult Chinese lady

We report a 32 year-old Chinese lady with history of tetralogy of Fallot, presented to us with chest pain due to hypocalcemia secondary to hypoparathyroidism. With her dysmorphic facial features and intellectual disability 22q11.2 deletion was suspected and confirmed by genetic study. Clinicians should consider the diagnosis of DiGeorge syndrome in adult patient with past medical history of congenital heart disease, facial dysmorphism, intellectual disability and primary hypoparathyroidism.published_or_final_versio

A Gestão Estratégica dos Recursos Humanos nas Autarquias Locais: estudo de caso na Câmara Municipal de Cantanhede

Os Recursos Humanos são fundamentais para o prosseguimento da missão e dos objetivos de qualquer organização. A Gestão Estratégica dos Recursos Humanos, permite que uma organização alcance os seus objetivos, através do aumento da probabilidade de realização dos mesmos. Esta lógica de Gestão dos Recursos Humanos, revela-se como uma promessa explícita de eficácia organizacional, que pode ser alcançada pelo desenvolvimento do conjunto de práticas de RH internamente consistentes e adequadas aos contextos organizacionais. O concretizar de uma Gestão Estratégica dos Recursos Humanos nas organizações da Administração Pública, considerando a complexidade humana e o valor inerente, é uma via para o desenvolvimento a todos os níveis. Nas Câmaras Municipais, enquanto órgãos executivos de uma das formas de Autarquias Locais que é o Município, a Gestão Estratégica dos Recursos Humanos torna-se um investimento necessário para a melhoria contínua na prestação de serviços públicos. Isso, tendo em conta que a descentralização de competências da Administração Pública Central, para as Autarquias Locais, acarreta um aumento de responsabilidades e requer maior capacidade de resposta às demandas sociais. É no contexto da Administração Pública, em particular das Autarquias Locais, que se realiza o estudo de caso na Câmara Municipal de Cantanhede. O objetivo desta investigação é compreender a dinâmica do sector dos Recursos Humanos nas Autarquias Locais, sob a perspetiva da Gestão Estratégica dos Recursos Humanos, e perceber a importância que esta tem no desempenho global dessas organizações. O tipo de pesquisa que se materializa é qualitativo e exploratório, com a realização de observação direta, análise documental e entrevistas semiestruturadas. Verifica-se com este estudo, que é preocupação da Câmara Municipal de Cantanhede e do sector dos Recursos Humanos, desenvolver procedimentos estratégicos de Gestão dos Recursos Humanos. Apesar de ser um processo limitado pelos problemas relativos à atualização das carreiras, baixa remuneração, ausência de compensações e prémio de desempenho. Para que a Gestão Estratégica dos Recursos Humanos tenha efetivamente campo de ação, é preciso que a Gestão dos Recursos Humanos seja desmistificada enquanto conceito e experienciada de forma expressiva nas Autarquias Locais, em conjunto com o reforço da autonomia dessas organizações. / Human Resources are fundamental for the pursuit of the mission and goals of any organization. The Strategic Management of Human Resources allows an organization to achieve its objectives by increasing the probability of achieving them. This Human Resource Management logic is an explicit promise of organizational effectiveness that can be achieved by developing a set of HR practices that are internally consistent and appropriate to organizational contexts. The realization of a Strategic Management of Human Resources in Public Administration organizations, considering the human complexity and the inherent value, is a way for development at all levels. In the Municipal Councils, as an executive bodies of one of the forms of Local Authorities that is the Municipality, the Strategic Management of Human Resources becomes a necessary investment for the continuous improvement in the provision of public services. This, taking into account that the decentralization of competences of the Central Public Administration, for Local Authorities, entails an increase in responsibilities and requires greater capacity to respond to social demands. It is in the context of the Public Administration, in particular the Local Authorities, that the case study is carried out in Cantanhede Town Hall. The objective of this research is to understand the dynamics of the Human Resources sector in Local Authorities, from the perspective of the Strategic Management of Human Resources, and realize the importance it has in the overall performance of these organizations. The type of research that materializes is qualitative and exploratory, with direct observation, documental analysis and semi-structured interviews. It is verified with this study, that is concern of the Cantanhede Town Hall and of the Human Resources sector to develop strategic human resources management procedures. Although it is a process limited by the problems related to the updating of the careers, low remuneration, absence of compensations and performance bonus. In order for the Strategic Management of Human Resources to have an effective field of action, it is necessary that the Human Resources Management be demystified as a concept and experienced in an expressive way in Local Authorities, together with the reinforcement of the autonomy of these organizations

Prevalence and architecture of de novo mutations in developmental disorders.

The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important genes. Here we have sequenced the exomes of 4,293 families containing individuals with developmental disorders, and meta-analysed these data with data from another 3,287 individuals with similar disorders. We show that the most important factors influencing the diagnostic yield of DNMs are the sex of the affected individual, the relatedness of their parents, whether close relatives are affected and the parental ages. We identified 94 genes enriched in damaging DNMs, including 14 that previously lacked compelling evidence of involvement in developmental disorders. We have also characterized the phenotypic diversity among these disorders. We estimate that 42% of our cohort carry pathogenic DNMs in coding sequences; approximately half of these DNMs disrupt gene function and the remainder result in altered protein function. We estimate that developmental disorders caused by DNMs have an average prevalence of 1 in 213 to 1 in 448 births, depending on parental age. Given current global demographics, this equates to almost 400,000 children born per year

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker Exchange and three previously reported), and four individuals with chromosome 7q22.2-22.23 microdeletions encompassing KMT2E (one previously reported). Almost all variants occurred de novo, and most were truncating. Most affected individuals with protein-truncating variants presented with mild intellectual disability. One-quarter of individuals met criteria for autism. Additional common features include macrocephaly, hypotonia, functional gastrointestinal abnormalities, and a subtle facial gestalt. Epilepsy was present in about one-fifth of individuals with truncating variants and was responsive to treatment with anti-epileptic medications in almost all. More than 70% of the individuals were male, and expressivity was variable by sex; epilepsy was more common in females and autism more common in males. The four individuals with microdeletions encompassing KMT2E generally presented similarly to those with truncating variants, but the degree of developmental delay was greater. The group of four individuals with missense variants in KMT2E presented with the most severe developmental delays. Epilepsy was present in all individuals with missense variants, often manifesting as treatment-resistant infantile epileptic encephalopathy. Microcephaly was also common in this group. Haploinsufficiency versus gain-of-function or dominant-negative effects specific to these missense variants in KMT2E might explain this divergence in phenotype, but requires independent validation. Disruptive variants in KMT2E are an under-recognized cause of neurodevelopmental abnormalities