A pilot study of mitochondrial genomic ancestry in admixed Brazilian patients with type 1 diabetes.

Interactions between multiple genes and environmental factors could be related to the pathogenesis of type 1 diabetes (T1D). The Brazilian population results from different historical miscegenation events, resulting in a highly diverse genetic pool. This study aimed to analyze the mtDNA of patients with T1D and to investigate whether there is a relationship between maternal ancestry, self-reported color and the presence of T1D. The mtDNA control region of 204 patients with T1D residing in three geographic regions of Brazil was sequenced following the International Society for Forensic Genetics (ISFG) recommendations. We obtained a frequency of Native American matrilineal origin (43.6%), African origin (38.2%), and European origin (18.1%). For self-declared color, 42.6% of the patients with diabetes reported that they were White, 50.9% were Brown, and 5.4% were Black. Finally, when we compared the self-declaration data with maternal ancestral origin, we found that for the self-declared White group, there was a greater percentage of haplogroups of Native American origin (50.6%); for the self-declared Black group, there was a greater percentage of African haplogroups (90.9%); and for the Brown group, there was a similar percentage of Native American and African haplogroups (42.3% and 45.2%, respectively). The Brazilian population with diabetic has a maternal heritage of more than 80% Native American and African origin, corroborating the country's colonization history.

Coberturas e agentes tópicos e seus efeitos no tratamento de lesões venosas: revisão integrativa / Coverings and topical agents and their effects on the treatment of venous lesions: integrative review

Objetivo: Identificar na literatura coberturas e agentes tópicos utilizados no tratamento de lesões venosas e descrever os efeitos encontrados. Métodos: Revisão integrativa da literatura, realizada em bases de dados nacionais e internacionais, com uso dos seguintes descritores: úlcera varicosa; úlcera da perna; curativos oclusivos; terapêutica e suas respectivas traduções em inglês. Incluíram-se artigos publicados no período entre 2014 e 2022, sem limitação de idioma. Resultados: Identificaram-se 22 agentes tópicos/coberturas nos 24 artigos selecionados, com predomínio da carboximetilcelulose (n=4), gel de papaína (n=3) e polihexametileno biguanida (n=2), gel de plaquetas (n=2) e tecnologia como lipido-coloide-nano oligossacarídeo (n=2). Conclusão: Os 22 agentes tópicos/coberturas encontrados foram capazes de acelerar a cicatrização, diminuir o exsudato e tecidos desvitalizados, controlar a carga bacteriana, modular a inflamação e reduzir a dor e o odor. A partir da pesquisa também se identificaram as indicações, os resultados e as recomendações dos agentes/coberturas. Entretanto, ressalta-se a importância da realização de pesquisas clínicas de qualidade que contribuam para o planejamento e a tomada de decisões na assistência de enfermagem às pessoas com lesões venosas. Descritores: Enfermagem; Úlcera Varicosa; Úlcera da Perna; Terapêutica; Curativos Oclusivos

Objective: To identify in the literature the coverings and topical agents used in the treatment of venous lesions and describe the effects found. Methods: Integrative literature review carried out in national and international databases using thefollowing descriptors in Portuguese and English: varicose ulcer, leg ulcer, occlusive dressings, therapy. Articles published between 2014 and 2022 were included, without language limitation. Results: Twenty-two topical agents/coverings were identified in the 24 selected articles, with a predominance of carboxymethylcellulose (n=4), papain gel (n=3) and polyhexamethylene biguanide (n=2), platelet gel (n=2) and technology such as lipid-colloid nano-oligosaccharide (n=2). Conclusion: The 22 topical agents/coverings found were able to accelerate healing, decrease exudate and devitalized tissues, control bacterial load, modulate inflammation, and reduce pain and odor. From the research it was also possible to identify the indications, results and recommendations of the agents/coverings. However, we emphasize the importance of conducting quality clinical research that contributes to planning and decision-making in nursing care for people with venous lesions.Descriptors:Nursing;Varicose Ulcer;Leg Ulcer;Therapy;Occlusive Dressings.

The Hospital to Home study (H2H): smartwatch technology-enabled rehabilitation following hip fracture in older adults, a feasibility non-randomised trial.

Introduction: Hip fractures are associated with significant morbidity and mortality. This study assessed the feasibility of smartwatches supporting rehabilitation post-surgical fixation. Methods: This UK-based non-randomised intervention study recruited patients who had sustained a hip fracture (age ≥65 and Abbreviated Mental Test Score ≥8/10), following surgical fixation, at one hospital to the intervention group, and at a second hospital to a usual care group. The intervention group received a smartwatch (Fitbit Charge 4) and app (CUSH Health©). Feasibility measures included retention and completion of outcome measures. Results: Between November 2020 and November 21, 66 participants were recruited (median age 78 (IQR 74-84)). The intervention cohort were younger, with no significant differences in frailty or multi-morbidity between the cohorts. Hospital stay was shorter in the intervention cohort (10 days (7-16) versus 12 (10-18), p=0.05). There were 15 falls-related readmissions in the control cohort, including 11 fractures, with none in the intervention cohort (p=0.016). In the intervention group, median daily step counts increased from 477 (320-697) in hospital, to 931 (505-1238) 1 week post-discharge, to 5,352 (3,552-7,944) at 12-weeks (p=0.001). Of the intervention cohort, 12 withdrew. Conclusion: This study found that smartwatch-supported rehabilitation was feasible in this cohort. A significant proportion of patients either chose not to participate or withdrew; such a decrease in participants must be addressed to avoid digital exclusion. Falls and fracture-related readmissions were more frequent at the control site compared with the intervention site.

In vivo evaluation of time-dependent antithrombotic effect of rivaroxaban-loaded poly(lactic-co-glycolic acid)/sodium lauryl sulfate or didodecyl dimethylammonium bromide nanoparticles in Wistar rats.

Rivaroxaban (RVX), an oral direct factor Xa inhibitor, is being explored as an alternative to traditional anticoagulans. However, RVX still faces pharmacokinetic limitations and adverse effects, highlighting the need for more effective formulations. In this regard, pharmaceutical nanotechnology, particularly the use of polymeric nanoparticles (PNPs), offers a promising approach for optimizing RVX delivery. This study aimed to develop and physicochemically characterize RVX-loaded poly(lactic-co-glycolic acid) (PLGA)/sodium lauryl sulfate (SLS) or didodecyl dimethylammonium bromide (DMAB) nanoparticles, and also evaluate their pharmacological and toxicological profiles as a potential therapeutic strategy. The PNPs exhibited sizes below 300 nm and spherical morphology, with both negative and positive surface charges, according to surfactant used. They demonstrated high encapsulation efficiency and suitable yields, as well as rapid initial liberation followed by sustained release in different pH environments. Importantly, in vivo evaluations revealed a time-dependent antithrombotic effect surpassing the free form of RVX when administered orally in SLS or DMAB PNP. No hemolytic or cytotoxic effects were observed at various concentrations of the PNPs. Interestingly, the PNPs did not induce hemorrhagic events or cause liver enzyme alterations in vivo. These findings suggest that RVX-loaded SLS or DMAB PNPs are promising innovative therapeutic alternatives for the treatment of thromboembolic diseases.

PET-Saúde: contribuições para implementação da EIP e o desenvolvimento de competências colaborativas / PET-Saúde: contributions to the implementation of IPE and the development of collaborative competencies

Resumo: Introdução: Cada vez mais no cenário global vem sendo observado o avanço das iniciativas de educação interprofissional (EIP) com o intuito de gerar inovações e solucionar problemas nos cenários de saúde. Ainda que tímidas, no Brasil, tem-se notado a implantação dos seus preceitos em busca de práticas mais colaborativas, especialmente alinhadas às diretrizes e aos preceitos do Sistema Único de Saúde (SUS). Objetivo: Este estudo teve como objetivo analisar a implementação da EIP e o desenvolvimento de competências colaborativas na formação dos estudantes e na prática dos preceptores e docentes que participaram do PET-Saúde/Interprofissionalidade da Universidade Federal de Viçosa (UFV). Método: Trata-se de uma pesquisa qualitativa que utilizou como técnica de coleta de dados a análise documental. Foram analisados quatro documentos: o edital que dispõe sobre o programa, o documento de inscrição e os relatórios, parcial e final. Resultado: Destacaram-se três aspectos nos documentos avaliados: "cumprimento dos objetivos", "desafios para efetivação da EIP" e "desenvolvimento de competências colaborativas", e, assim, notou-se que, de modo geral, houve o cumprimento dos objetivos do programa, apesar dos desafios impostos pelo modelo hegemônico de formação uniprofissional e pela pandemia da Covid-19. Além disso, foi observado o desenvolvimento de competências fundamentais para uma prática integral em saúde, como: comunicação interprofissional, trabalho em equipe, resolução de conflitos, escuta ativa e qualificada, liderança colaborativa, clareza de papéis, entre outras. Conclusão: Apesar dos percalços, houve a aplicação da EIP e o desenvolvimento de competências colaborativas, as quais favorecem a prática interprofissional e o efetivo trabalho em equipe nos cenários de saúde.

Abstract: Introduction: Interprofessional Education (IPE) initiatives are being increasingly seen on the global stage with the aim of generating innovations and solving problems in healthcare settings. Although timid, Brazil has witnessed the implementation of its precepts in search of more collaborative practices, especially aligned with the guidelines and precepts of the Unified Health System (SUS). Objective: To analyse the implementation of IPE and the development of collaborative competencies in the training of students and in the practice of preceptors and teachers who participated in the PET-Sáude/Interprofessional programme of the Universidade Federal de Viçosa (UFV). Methods: This is qualitative research that used document analysis as a data collection technique. Four documents were analysed: the public notice for the programme, the registration document and the partial and final reports. Results: Three aspects were highlighted in the documents evaluated: "fulfillment of the objectives", "challenges for the implementation of IPE" and "development of collaborative competencies". Accordingly, it was noted that, in general, the programme objectives were met, despite the challenges imposed by the hegemonic model of uniprofessional training and the Covid-19 pandemic. In addition, the development of fundamental competencies for comprehensive healthcare practices was observed, such as, for example: interprofessional communication, teamwork, conflict resolution, active and qualified listening, collaborative leadership, clarity of roles. Conclusion: Despite the setbacks, IPE was applied and collaborative competencies were developed, which favour interprofessional practice and effective teamwork in healthcare setttings.

Indicações do uso do Cateter Central de Inserção Periférica no adulto crítico / Indicaciones para el uso del Catéter Central de Inserción Periférica en adultos críticamente enfermos / Indications for use of the Peripherally Inserted Central Catheter in the critical adult

Objetivo: Apresentar as indicações do uso do Cateter Central de Inserção Periférica no paciente adulto crítico. Método: Trata-se de uma revisão integrativa de literatura realizada na Biblioteca Virtual de Saúde, PubMed e EBSCO, resultando em uma amostra de dez artigos publicados entre julho de 2014 e julho de 2019. Resultado: O Cateter Central de Inserção Periférica apresenta diversas indicações e seu uso tem crescido nas Unidades de Terapia Intensiva adulto. Conclusão: Trata-se de uma tecnologia promissora no tratamento adultos críticos acometidos por diversas doenças, possibilitando mais conforto durante o tratamento e possui alto nível de evidência. Além de seguro, eficiente, com bom custo-benefício, pode ser puncionado pelo enfermeiro habilitado, à beira-leito, evita os riscos associados ao transporte e traz uma nova dimensão de cuidado para o enfermeiro. É uma alternativa viável para substituição ao Cateter Venoso Central, entretanto a sua escolha deve ser feita de maneira criteriosa.(AU)

Objective: To present the indications for the use of the Peripherally Inserted Central Catheter in critically ill adult patients. Method: This is an integrative literature review carried out at the Virtual Health Library, PubMed and EBSCO, resulting in a sample of ten articles published between July 2014 and July 2019. Result: The Peripherally Inserted Central Catheter has several indications and its use has grown in adult Intensive Care Units. Conclusion: This is a promising technology in the treatment of critically ill adults affected by various diseases, providing more comfort during treatment and with a high level of evidence. In addition to being safe, efficient, and cost-effective, it can be punctured by a qualified nurse, at the bedside, avoiding the risks associated with transport and bringing a new dimension of care to nurses. It is a viable alternative to replace the Central Venous Catheter, however its choice must be made judiciously(AU)

Objetivo: Presentar las indicaciones de uso del catéter central de inserción periférica en pacientes adultos críticamente enfermos. Método: Se trata de una revisión integradora de la literatura realizada en la Biblioteca Virtual en Salud, PubMed y EBSCO, dando como resultado una muestra de diez artículos. Resultado: Se trata de una revisión integradora de la literatura realizada en la Biblioteca Virtual en Salud, PubMed y EBSCO, dando como resultado una muestra de diez artículos publicados entre julio de 2014 y julio de 2019. Conclusión: Se trata de una tecnología prometedora en el tratamiento de adultos críticamente enfermos afectados por diversas patologías, brindando mayor comodidad durante el tratamiento y con un alto nivel de evidencia. Además de ser seguro, eficiente y rentable, puede ser perforado por una enfermera cualificada, a pie de cama, evitando los riesgos asociados al transporte y aportando una nueva dimensión de atención a las enfermeras. Es una alternativa viable para reemplazar el catéter venoso central, sin embargo, su elección debe hacerse con prudencia(AU)

Psychological Problems Experienced by Patients with Bowel Endometriosis Awaiting Surgery.

OBJECTIVE: To assess the most common psychological disturbances in women with deep endometriosis and bowel involvement who are waiting surgical treatment and to evaluate what forms of coping are used to solve the problem. METHODS: This was a cross-sectional observational study of 40 women diagnosed with deep endometriosis and intestinal symptoms. They completed two questionnaires: one for anxiety and depression (Hospital Anxiety and Depression Scale [ HADS]) and the Scale of Mode of Confronting Problems (EMEP, in the Portuguese acronym). RESULTS: We found that 77.1% of the patients had anxiety and depression, with anxiety being the most prevalent (87.5% of the patients); 90% of the patients used problem-focused and religious introspection as their main modes of confronting problems. CONCLUSION: In the use of the HADS questionary, two psychological aspects were the most present in women with deep endometriosis awaiting surgical treatment: anxiety and depression. The most used forms of coping to solve the problem were problem-coping and religious practices.

OBJETIVO: Avaliar os distúrbios psicológicos mais comuns em mulheres com endometriose profunda e acometimento intestinal que aguardam tratamento cirúrgico e avaliar as formas de enfrentamento que são usadas para resolver o problema. MéTODOS: Estudo observacional transversal com 40 mulheres com diagnóstico de endometriose profunda e acometimento intestinal. As pacientes responderam dois questionários: para ansiedade e depressão (Hospital Anxiety and Depression Scale [HADS, na sigla em inglês) e outro para enfrentamento dos problemas (EMEP). RESULTADOS: Constatamos que 77% das pacientess apresentaram ansiedade e depressão, sendo a ansiedade a mais prevalente (87,5%); 90% das pacientes usaram a forma religiosa e focada no problema como sua principal estratégia de enfrentamento. CONCLUSãO: Os aspectos psicológicos mais encontrados em mulheres com endometriose profunda e intestinal que aguardam tratamento cirúrgico são ansiedade e depressão. As formas mais usadas de enfrentamento para resolver o problema foram práticas religiosas e focada no problema.

Psychological Problems Experienced by Patients with Bowel Endometriosis Awaiting Surgery / Problemas psicológicos vivenciados por pacientes com endometriose intestinal aguardando cirurgia

Abstract Objective To assess the most common psychological disturbances in women with deep endometriosis and bowel involvement who are waiting surgical treatment and to evaluate what forms of coping are used to solve the problem. Methods This was a cross-sectional observational study of 40 women diagnosed with deep endometriosis and intestinal symptoms. They completed two questionnaires: one for anxiety and depression (Hospital Anxiety and Depression Scale [ HADS]) and the Scale of Mode of Confronting Problems (EMEP, in the Portuguese acronym). Results We found that 77.1% of the patients had anxiety and depression, with anxiety being the most prevalent (87.5% of the patients); 90% of the patients used problem focused and religious introspection as their main modes of confronting problems. Conclusion In the use of the HADS questionary, two psychological aspects were the most present in women with deep endometriosis awaiting surgical treatment: anxiety and depression. The most used forms of coping to solve the problem were problem coping and religious practices.

Resumo Objetivo Avaliar os distúrbios psicológicos mais comuns em mulheres com endometriose profunda e acometimento intestinal que aguardam tratamento cirúrgico e avaliar as formas de enfrentamento que são usadas para resolver o problema. Métodos Estudo observacional transversal com 40 mulheres com diagnóstico de endometriose profunda e acometimento intestinal. As pacientes responderam dois questionários: para ansiedade e depressão (Hospital Anxiety and Depression Scale [HADS, na sigla em inglês) e outro para enfrentamento dos problemas (EMEP). Resultados Constatamos que 77% das pacientess apresentaram ansiedade e depressão, sendo a ansiedade a mais prevalente (87,5%); 90% das pacientes usaram a forma religiosa e focada no problema como sua principal estratégia de enfrentamento. Conclusão Os aspectos psicológicos mais encontrados em mulheres com endometriose profunda e intestinal que aguardam tratamento cirúrgico são ansiedade e depressão. As formas mais usadas de enfrentamento para resolver o problema foram práticas religiosas e focada no problema.

COVID-19 In-Hospital Mortality and Use of Renin-Angiotensin System Blockers in Geriatrics Patients.

OBJECTIVE: The role of treatment with renin-angiotensin-aldosterone system blockers at the onset of COVID-19 infection is not known in the geriatric population. The aim of this study was to assess the relationship between angiotensin receptor blockers (ARBs) and angiotensin-converting enzyme inhibitor (ACEI) use and in-hospital mortality in geriatric patients hospitalized for COVID-19. DESIGN: This observational retrospective study was conducted in a French geriatric department. Patients were included between March 17 and April 18, 2020. SETTING AND PARTICIPANTS: All consecutive 201 patients hospitalized for COVID-19 (confirmed by reverse-transcriptase polymerase chain reaction methods) were included. All nondeceased patients had 30 days of follow-up and no patient was lost to follow-up. METHODS: Demographic, clinical, and biological data and medications were collected. In-hospital mortality of patients treated or not by ACEI/ARB was analyzed using multivariate Cox models. RESULTS: Mean age of the population was 86.3 (8.0) years, 62.7% of patients were institutionalized, 88.6% had dementia, and 53.5% had severe disability (activities of daily living [ADL] score <2). Sixty-three patients were treated with ACEI/ARB and 138 were not. Mean follow-up was 23.4 (10.0) days, 66 (33.8%) patients died after an average of 10.0 days (6.0). Lower mortality rate was observed in patients treated with ACEI/ARB compared with patients not treated with ARB or ACEI (22.2% [14] vs 37.7% [52], hazard ratio [HR] 0.54; 95% confidence interval 0.30-0.97; P = .03). In a multivariate Cox regression model including age, sex, ADL score, Charlson index, renal function, dyspnea, C-reactive protein, and white blood cell count, use of ACEI/ARB was significantly associated with lower in-hospital mortality (HR 0.52 (0.27-0.99), P = .048). CONCLUSION AND IMPLICATIONS: In very old subjects hospitalized in geriatric settings for COVID-19, mortality was significantly lower in subjects treated with ARB or ACEI before the onset of infection. The continuation of ACEI/ARB therapy should be encouraged during periods of coronavirus outbreak in older subjects.

The Impact of Systematic Laparoscopic Skills and Suture Training on Laparoscopic Hysterectomy Outcomes in a Brazilian Teaching Hospital.

OBJECTIVE: To evaluate the impact of systematic laparoscopic skills and suture training (SLSST) on the total laparoscopic hysterectomy intra- and postoperative outcomes in a Brazilian teaching hospital. METHODS: A cross-sectional observational study in which 244 charts of total laparoscopic hysterectomy (TLH) patients operated from 2008 to 2014 were reviewed. Patient-specific (age, parity, previous cesarean sections, abdominal surgeries and endometriosis) and surgery-related variables (hospital stay, operative time, uterine volume and operative complications) were analyzed in three different time-frame groups: 2008-09 (I-1) - TLHs performed by senior attending physicians; 2010-11 (I-2) - TLHs performed by residents before the implementation of the SLSST program; and 2012-14 (I-3) - TLHs performed by residents after the implementation of the SLSST program. RESULTS: A total of 244 TLH patients (mean age: 45.93 years) were included: 24 (I-1), 55 (I-2), and 165 (I-3). The main indication for TLH was uterine myoma (66.4%). Group I-3 presented a decrease in surgical time compared to group I-2 (p = 0.010). Hospital stay longer than 2 days decreased in group I-3 compared to group I-2 (p = 0.010). Although we observed decreased uterine volume (154.2 cm3) in group I-2 compared to group I-1 (217.8 cm3) (p = 0.030), logistic regression did not find any association between uterine volume and surgical time (p = 0.103). CONCLUSION: The total operative time for laparoscopic hysterectomy was significantly shorter in the group of patients (I-3) operated after the systematic laparoscopic skills and suture training was introduced in our hospital.

OBJETIVO: Avaliar o impacto do treinamento laparoscópico sistematizado de habilidades e sutura (TLSHS) nos resultados intra e pós-operatórios da histerectomia laparoscópica em um hospital universitário brasileiro. MéTODOS: Estudo observacional transversal de revisão de 244 prontuários de pacientes submetidas a histerectomia total laparoscópica (HTL) operadas entre 2008 e 2014. Os fatores específicos das pacientes (idade, paridade, cesariana prévia, cirurgias abdominais, e endometriose) e as variáveis relacionadas à cirurgia (tempo de hospitalização, tempo de cirurgia, volume uterino e complicações operatórias) foram analisados em três grupos temporais: 2008-09 (I-1) ­ HTLs realizadas por médicos experientes; 2010-11 (I-2) ­ HTLs realizadas por residentes sem TLSHS; 2012-2014 (I-3) ­ HTLs realizadas por residentes após a implementação do TLSHS. RESULTADOS: Um total de 244 pacientes submetidas a HTLs foram incluídas (média de idade de 45,93 anos): 24 operadas no período I1, 55 no I2, e 165 no I3. A principal indicação para HTL foi mioma uterino (66,4%). O grupo I-3 apresentou diminuição no tempo cirúrgico quando comparado ao grupo I-2 (p = 0,010). Hospitalização superior a 2 dias diminuiu no grupo I-3 comparado ao grupo I-2 (p = 0,010). Apesar de observarmos diminuição no volume uterino dos pacientes do grupo I-2 (154,2 cm3) em comparação com os do grupo I-1 (217,8 cm3) (p = 0,030), a regressão logística não revelou associação entre volume uterino e tempo cirúrgico (p = 0,103). CONCLUSãO: O tempo cirúrgico na HTL foi significativamente menor no grupo de pacientes submetidas à cirurgia após a implantação do TLSHS em nosso hospital.

Effects of inositol on glucose homeostasis: Systematic review and meta-analysis of randomized controlled trials.

BACKGROUND & AIMS: The effect of inositol on glucose homeostasis is not well characterized. The aim of the present meta-analysis is to synthesize the effects of inositol on glucose homeostasis in different clinical conditions. METHODS: We performed a systematic review (CRD42017057927) following PRISMA guidelines. Web of Science and Medline were searched for randomized controlled trials (RCTs) that addressed supplementation with compounds of the inositol family in humans and assessed their effects on glucose homeostasis. RESULTS: We screened 476 abstracts and included 20 RCTs with a total of 1239 subjects. Meta-analysis showed in the treatment arm a reduction in fasting plasma glucose (Mean difference (MD) -0.44 mmol/l, 95% CI -0.65, -0.23), 2 h PG after 75 g OGTT (MD -0.69 mmol/l, 95% CI -1.14, -0.23), abnormal glucose tolerance (Relative risk (RR) 0.28, 95% CI 0.12, 0.66), fasting insulin (MD -38.49 pmol/l, 95% CI -52.63, -24.36), and HOMA-IR (MD -1.96 mmol × mUI/l, 95% CI -2.62, -1.30). No differences were observed in BMI, HbA1c and % of patients requiring insulin treatment. Sensitivity analysis did not change treatment estimates. Mention to adverse events was only present in 13 articles with no sign of seriousness. CONCLUSIONS: Inositol supplementation decreases blood glucose through an improvement in insulin sensitivity that is independent of weight. Assessment of adverse effects is scarce among published trials and should be fully addressed before considering inositol as a therapeutic agent for glucose-related outcomes. The characterization of the subjects achieving benefit from the intervention and the formulations to be used should also be known.

Correction: Shelly Y. Shih; et al.; Applications of Probe Capture Enrichment Next Generation Sequencing for Whole Mitochondrial Genome and 426 Nuclear SNPs for Forensically Challenging Samples. Genes 2018, 9, 49.

The authors wish to make the following change to their paper [1][...].

Applications of Probe Capture Enrichment Next Generation Sequencing for Whole Mitochondrial Genome and 426 Nuclear SNPs for Forensically Challenging Samples.

The application of next generation sequencing (NGS) for the analysis of mitochondrial (mt) DNA, short tandem repeats (STRs), and single nucleotide polymorphism (SNPs) has demonstrated great promise for challenging forensic specimens, such as degraded, limited, and mixed samples. Target enrichment using probe capture rather than PCR amplification offers advantages for analysis of degraded DNA since two intact PCR primer sites in the template DNA molecule are not required. Furthermore, NGS software programs can help remove PCR duplicates to determine initial template copy numbers of a shotgun library. Moreover, the same shotgun library prepared from a limited DNA source can be enriched for mtDNA as well as nuclear markers by hybrid capture with the relevant probe panels. Here, we demonstrate the use of this strategy in the analysis of limited and mock degraded samples using our custom probe capture panels for massively parallel sequencing of the whole mtgenome and 426 SNP markers. We also applied the mtgenome capture panel in a mixed sample and analyzed using both phylogenetic and variant frequency based bioinformatics tools to resolve the minor and major contributors. Finally, the results obtained on individual telogen hairs demonstrate the potential of probe capture NGS analysis for both mtDNA and nuclear SNPs for challenging forensic specimens.

Mucosa-associated lymphoid tissue lymphoma of the trachea: case report.

CONTEXT: Mucosa-associated lymphoid tissue (MALT) lymphomas are most commonly found in the stomach, lungs, orbital soft tissue, salivary glands and thyroid. Involvement of the trachea is extremely rare. CASE REPORT: This report describes a rare case of MALT lymphoma of the trachea in a 71-year-old woman who presented with a one-year history of coughing, dyspnea, hoarseness and weight loss. There was an infiltrative lesion in the mid-trachea. The anatomopathological diagnosis was only made from the fifth endoscopic biopsy attempt. Immunochemotherapy consisting of rituximab, cyclophosphamide, vincristine and prednisone (R-COP) induced complete remission of the symptoms and endoscopic lesion. CONCLUSIONS: MALT lymphoma of the trachea is extremely rare and indolent disease. It has to be considered in the differential diagnosis of airway lesions. It is crucial to obtain an anatomopathological diagnosis from a specialized pathologist. Immunochemotherapy with R-COP induced complete remission of the disease.

Mucosa-associated lymphoid tissue lymphoma of the trachea: case report / Linfoma do tecido linfoide associado à mucosa de traqueia: relato de caso

CONTEXT: Mucosa-associated lymphoid tissue (MALT) lymphomas are most commonly found in the stomach, lungs, orbital soft tissue, salivary glands and thyroid. Involvement of the trachea is extremely rare. CASE REPORT: This report describes a rare case of MALT lymphoma of the trachea in a 71-year-old woman who presented with a one-year history of coughing, dyspnea, hoarseness and weight loss. There was an infiltrative lesion in the mid-trachea. The anatomopathological diagnosis was only made from the fifth endoscopic biopsy attempt. Immunochemotherapy consisting of rituximab, cyclophosphamide, vincristine and prednisone (R-COP) induced complete remission of the symptoms and endoscopic lesion. CONCLUSIONS: MALT lymphoma of the trachea is extremely rare and indolent disease. It has to be considered in the differential diagnosis of airway lesions. It is crucial to obtain an anatomopathological diagnosis from a specialized pathologist. Immunochemotherapy with R-COP induced complete remission of the disease.

CONTEXTO: Linfomas de tecido linfoide associado à mucosa (TLAM) são mais comumente encontrados no estômago, pulmões, órbita, glandulas salivares e tireoide. O envolvimento da traqueia é extremamente raro. RELATO DE CASO: Relato de caso raro de linfoma TLAM de traqueia, em mulher de 71 anos com tosse, dispneia, rouquidão e emagrecimento há um ano. Detectou-se lesão infiltrativa na porção média da traquéia. O diagnóstico anatomopatológico só foi obtido na biópsia do quinto procedimento endoscópico. A imunoquimioterapia R-COP (rituximabe, ciclofosfamida, vincristina e prednisona) induziu remissão completa dos sintomas e da lesão endoscópica. CONCLUSÕES: Linfoma TLAM de traqueia é uma doença indolente e extremamente rara, que deve ser considerada no diagnóstico diferencial das lesões de vias aéreas. O diagnóstico anatomopatológico por um patologista experimentado é fundamental. Imunoquimioterapia com R-COP levou à remissão completa da doença.

[Mother Kangaroo Method: an investigation about the domestic practice]. / Método Mãe Canguru: uma investigação da prática domiciliar.

This is a descriptive study, within uantitative approach, aiming at acquiring knowledge regarding the domestic practice of Mother Kangaroo Method. Data were collected from a survey for the parents of prematures hospitalized in a University Hospital in São Luís, Maranhão State, from May to August, 2005. According to the findings, 100% of the families received training and guidance in the hospital and only in 53.3% of the cases the mothers were guided. The benefits of the education works developed by the team were confirmed by domestic practice with 93.3% of the mothers performing the kangaroo position correctly, where 86.7% of the babies were slightly dressed, 86.7% of the mothers were breast feeding technically in a correct manner and 86.7% without any other items being used. 46.7% of the mothers stay 5 to 8 hours/day with their babies in this position and 66.7% identified house tasks as the principal obstacle of the practice. Regarding neonatal walk-in unit follow-up 63.3% of the mothers identified the lack of financial recourses to pay for transportation as the main difficulty factor. The data obtained show that the support from the family network and the health team seem to be the best way to guarantee the extension of domestic care.

Método Mãe Canguru: uma investigação da prática domiciliar / Mother Kangaroo Method: an investigation about the domestic pratice

Estudo descritivo, inserido na abordagem quantitativa, com o objetivo de conhecer a prática domiciliar do Método Mãe Canguru. Os dados foram coletados a partir da aplicação de um questionário aos pais dos recém-nascidos prematuros que estiveram internados em um hospital universitário, em São Luís (MA), no período de maio a agosto de 2005. De acordo com os dados encontrados, 100 por cento das famílias receberam ensinamentos e orientações no hospital; sendo que em 53,3 por cento dos casos apenas a mãe foi orientada. Os benefícios do trabalho educativo desenvolvido pela equipe foram confirmados na prática domiciliar, com 93,3 por cento das mães realizando adequadamente a posição canguru, onde 86,7 por cento dos bebês encontravam-se ligeiramente vestidos, 86,7 por cento delas amamentando tecnicamente correto e 86,7 por cento sem fazer uso de qualquer tipo de adereços. 46,7 por cento das mães permanecem de cinco a oito horas/dia com o bebê nesta posição e 66,7 por cento identificaram as tarefas do lar como principal obstáculo da prática. Em relação ao seguimento ambulatorial neonatal, 63,3 por cento das mães identificaram a falta de recurso financeiro para cobrir as despesas com o transporte como principal fator de dificuldade. Os dados obtidos demonstram que o apoio da rede familiar e da equipe de saúde parece ser o melhor caminho para garantir a extensão do cuidado em domicílio.

This is a descriptive study, within uantitative approach, aiming at acquiring knowledge regarding the domestic practice of Mother Kangaroo Method. Data were collected from a survey for the parents of prematures hospitalized in a University Hospital in São Luís, Maranhão State, from May to August, 2005. According to the findings, 100 percent of the families received training and guidance in the hospital and only in 53.3 percent of the cases the mothers were guided. The benefits of the education works developed by the team were confirmed by domestic practice with 93.3 percent of the mothers performing the kangaroo position correctly, where 86.7 percent of the babies were slightly dressed, 86.7 percent of the mothers were breast feeding technically in a correct manner and 86.7 percent without any other items being used. 46.7 percent of the mothers stay 5 to 8 hours/day with their babies in this position and 66.7 percent identified house tasks as the principal obstacle of the practice. Regarding neonatal walk-in unit follow-up 63.3 percent of the mothers identified the lack of financial recourses to pay for transportation as the main difficulty factor. The data obtained show that the support from the family network and the health team seem to be the best way to guarantee the extension of domestic care.

Estrutura e funcionalidade de famílias de adolescentes em tratamento hemodialítico / Structure and functionality of families with adolescents in hemodialitic treatment / La estructura y la funcionalidad de las familias de los adolescentes con tratamiento hemodiálico

Estudo descritivo exploratório com abordagem quantitativa com objetivo de avaliar e classificar a funcionalidade das famílias de adolescentes renais crônicos em tratamento hemodialítico e identificar as características do APGAR preditoras de risco funcional. O estudo foi realizado nos Centros de Tratamento Hemodialitico da capital maranhense no período de março a maio de 2004. Participaram do estudo 12 adolescentes em tratamento hemodialítico e familiar acompanhante totalizando 24 sujeitos. Foram utilizados dois tipos de questionários: o APGAR e outro relativo ao perfil familiar. Os resultados evidenciaram que a maioria das famílias dos adolescentes renais crônicos era disfuncional do tipo leve. As características funcionais mais comprometidas foram desenvolvimento e participação, enquanto que resolutividade, afetividade e adaptação foram apontadas como satisfatórias. A maior parte foi classificada como nuclear incompleta, composta por três a cinco membros e com filhos em sua maioria adolescentes. A aplicação do APGAR possibilitou ao adolescente avaliar sua família quanto a aspectos do funcionamento familiar, e permitiu à enfermagem conhecer a estrutura e identificar disfunções nas famílias destes indivíduos.

This is an exploratory, descriptive study with a quantitative approach. Its objective is to evaluate and classify the functionality of families with chronic renal adolescents receiving hemodialitic treatment and the presence of an accompanying family member. The study took place on hemodialitic treatment centres of the maranhense capital, from March to May, 2004. It includes the participation of 24 subjects. Two types of questionnaires were used: the APGAR, and one which relates to family profiles. The results show that the majority of families of chronic renal adolescents were slightly dysfunctional. The most affected functional characteristics were development and participation, while resolution, affection, and adaptation were pointed out as satisfactory. Most were classified as incomplete nuclear families, composed of three to five family members, the majority of children were adolescents. The APGAR application made it possible for the adolescent to evaluate his/her family concerning aspects of family functionality, and permitted that the nurses learn the familiar structure, as well as identify familiar dysfunctions within the sample group.

Estudio de naturaleza cualitativa de carácter descriptivo-exploratorio con el objetivo de evaluar y clasificar la funcionalidad de las familias de los adolescentes con problemas renales crónicos en tratamiento hemodialico, así como, identificar las características del APGAR que predisponen al riesgo funcional. El estudio fue realizado en los centros de tratamiento de hemodiálisis de la capital marañense en el periodo de marzo a mayo del 2004. Participaron del estudio 12 adolescentes con tratamiento hemodialico y el familiar acompañante haciendo un total de 24 sujetos. Fueron utilizados dos tipos de cuestionarios: el APGAR y otro con respecto al perfil familiar. Los resultados comprobaron que la mayoría de las familias de los adolescentes renales crónicos era disfuncional de tipo leve. Las características funcionales más comprometidas fueron el desenvolvimiento y la participación, mientras que, la determinación, la afectividad y la adaptación fueron apuntadas como satisfactorias. Fue clasificada la mayor parte como familia nuclear incompleta, conformada entre tres a cinco miembros y con hijos en su gran mayoría adolescentes. La aplicación del APGAR le posibilitó al adolescente evaluar a su familia en cuanto a los aspectos del funcionamiento familiar y le permitió a la Enfermería conocer la estructura e identificar las disfunciones en las familias de éstos individuos.

Avaliação da dor como instrumento para o cuidar de recém-nascidos pré-termo / Pain evaluation as a care instrument in premature newborns

A dificuldade de avaliar e mensurar a dor no recém-nascido pré-termo constitui obstáculo ao cuidado em Unidade de Terapia Intensiva Neonatal. Com este desafio desenvolveu-se a proposta do estudo, centrando-o na identificação da dor em recém-nascidos prematuros, utilizando a mímica facial. Os objetivos foram: analisar como mães e enfermeiras identificam a dor em recém-nascidos prematuros e verificar se identificam os sinais de dor pela expressão facial. Trata-se de estudo exploratório-descritivo envolvendo 24 mães e 12 enfermeiras como sujeitos do estudo. Para a coleta de dados utilizou-se a entrevista semi-estruturada e um quadro com seis fotos de recém-nascidos avaliadas pelo Sistema de Codificação da Atividade Facial Neonatal. Conclui-se que as mães identificaram melhor a dor pela expressão facial do que as enfermeiras. A avaliação da dor deve ser preocupação da enfermeira, pois para o cuidado, aspectos como identificação de sinais álgicos e sua caracterização são ferramentas para o cuidado ao recém-nascido prematuro.

The difficulty of evaluating and measuring pain in a premature newborn constitutes as an obstacle to care in the Neonatal Intensive Care Unit. In response to this challenge, we developed the proposal of this study, centered on the identification of pain in premature newborns through the utilization of facial mimicry. The objectives of this study were to analyze how mothers and nurses identify the pain of premature newborns and to verify the capacity of nurses and mothers in identifying the signs of pain through facial expressions. This exploratory descriptive study involved 24 mothers and 12 nurses. In order to collect the data we utilized a questionnaire with open, as well as closed, questions and a collage of six photos of newborns as evaluated by the Neonatal Facial Coding System. We conclude that mothers better identify pain through facial expressions in comparison with nurses. Pain evaluation should be a concern of the nurse, for in order to provide care, aspects such as identifying this signs and their characterizations are instruments of care for the premature newborn.

La dificultad de evaluar y medir el dolor en el recién nacido prematuro se constituye en un obstáculo al cuidado en la Unidad de Terapia Intensiva Neonatal. A partir de este desafío desarrollamos la propuesta del presente estudio, centrándola en la identificación del dolor en los recién nacidos prematuros, utilizando para ello la mímica facial. Los objetivos fueron los siguientes: analizar cómo las madres y las enfermeras identifican el dolor en los recién nacidos prematuros; verificar la capacidad de los enfermeros y las madres de identificar las señales del dolor por la expresión facial. Se trata de un estudio exploratorio descriptivo del cual participaron 24 madres y 12 enfermeras. Para la recolección de los datos se utilizó un cuestionario con preguntas abiertas y cerradas y un cuadro con seis fotos de recién nacidos evaluados por el Sistema de Codificación de la Actividad Facial Neonatal. Se concluye que las madres identificaron mejor el dolor por la expresión facial que las enfermeras. La evaluación del dolor debe ser preocupación de la enfermera, ya que para el cuidado, aspectos como la identificación de señales dolorosas y su caracterización son herramientas para el cuidado del recién nacido prematuro.