Patterns of genetic diversity, spatial genetic structure and gene flow in Campomanesia xanthocarpa: insights from SSR markers of different genomic origins.

Campomanesia xanthocarpa (Mart.) O. Berg is a South American fruit tree species with important ecological and medicinal properties, which remnants are currently found mainly in isolated forest fragments. In this study, SSR markers from three different genomic origins (gene-linked, nuclear neutral, and organellar) were used to evaluate the patterns of genetic diversity, fine-scale spatial genetic structure and historical gene flow in fragmented forest formations of C. xanthocarpa from the Atlantic Forest in southern Brazil. Our results show that the forest fragments present moderate to high levels of genetic diversity in comparison to species presenting similar life traits, although a trend opposite to expected was observed concerning gene-linked and neutral SSR markers. The fine-scale spatial genetic structure revealed different patterns in short and large distance classes, with a distinct influence of gene-linked and neutral markers in driving the genetic structure in each distance class. The presence of an isolation-by-adaptation pattern implies the need for maintenance of the current remnants to assure the conservation of the private alleles. Finally, as the genetic diversity is found predominantly within forest fragments, programs of seed collection and/or genetic rescue should prioritize a larger number of individuals within each fragment, to increase the sampled diversity.

Radiotherapy-induced malignancies in breast cancer patients with TP53 pathogenic germline variants (Li-Fraumeni syndrome).

The risk of radiotherapy-induced malignancies (RIMs) is a concern when treating Li-Fraumeni syndrome (LFS) or Li-Fraumeni Like (LFL) patients. However, the type of TP53 pathogenic germline variant may possibly influence this risk. TP53 p.R337H mutation is particularly prevalent in Brazil. We aimed to evaluate the outcomes of patients with pathogenic TP53 variants treated for localized breast cancer in a Brazilian cohort. We evaluated retrospectively a cohort of patients with germline TP53 pathogenic variants treated for localized breast cancer between December 1999 and October 2017. All patients were followed by the Hereditary Cancer Group of an academic cancer center. Our primary objective was to evaluate the occurrence of RIMs after adjuvant radiotherapy. Sixteen patients were evaluated; 10 (62.5%) had a germline TP53 p.R337H pathogenic variant. Median age was 39.8 years. Thirteen patients had invasive ductal carcinoma: 8 (61.5%) were hormone receptor-positive; 6 (46.1%), human epithelial growth factor receptor 2 (HER2)-amplified. Three patients had ductal carcinoma in situ. Most patients (N = 12/16, 75%) received adjuvant radiotherapy. After a median follow-up of 52.5 months, 2 patients (2/12, 16.6%) had RIMs. One had a fibrosarcoma and the other, a low-grade leiomyosarcoma. In the group treated with radiotherapy, one distant recurrence was diagnosed (1/12), and no loco-regional recurrence occurred. Among 4 patients who did not receive radiotherapy, 2 presented with loco-regional recurrence. In this cohort of patients with LFS enriched in TP53 p.R337H pathogenic variant, the incidence of RIMs after treatment of localized breast cancer was lower than previous literature. Nevertheless, rates of RIMs were still alarming. Early molecular diagnosis and careful evaluation of treatment risks and benefits are essential for these patients.

Return to work after breast cancer diagnosis: An observational prospective study in Brazil.

BACKGROUND: In North America and Europe, return-to-work (RTW) rates vary among breast cancer (BC) survivors, from 24% to 66% and from 53% to 82% at 6 and 36 months after diagnosis, respectively. To date, there is a lack of data on RTW rates after BC diagnosis in Latin America. Therefore, the primary objectives of this study were to define RTW rates at 12 and 24 months after BC diagnosis and to identify the factors associated with RTW in this population. METHODS: In total, 125 employed women from a single institution with newly diagnosed BC were interviewed by telephone at 6, 12, and 24 months after diagnosis. Those who had inoperable or metastatic disease were excluded. RESULTS: Overall, RTW rates were 30.3% and 60.4% at 12 and 24 months after BC diagnosis, respectively. Most women reported that they received support from their employer, but only 29.1% reported having been offered work adjustments. In multivariate analysis, the factors associated with positive RTW outcomes included higher household income (odds ratio [OR], 17.76; 95% confidence interval [CI], 3.33-94.75; P = .001), breast-conserving surgery (OR, 9.77; 95% CI, 2.03-47.05; P = .004), and work adjustments (OR, 37.62; 95% CI, 2.03-47.05; P = .004). The factors associated with negative RTW outcomes included adjuvant endocrine therapy (OR, 0.11; 95% CI, 0.02-0.74; P = .023), and depression diagnosed after BC (OR, 0.07; 95% CI, 0.01-0.63; P = .017). CONCLUSIONS: RTW rates in the current study were lower than those observed in developed countries but similar to the rates among low-income Americans. Workplace adjustments, higher income, breast-conserving surgery, endocrine therapy, and depression after BC played an important role in the RTW decision.

Prevalence of community-acquired methicillin-resistant Staphylococcus aureus and antibiotic resistance in patients with atopic dermatitis in Porto Alegre, Brazil.

BACKGROUND: Atopic dermatitis (AD) is a skin manifestation of atopy caused by hyperreactivity to various antigens. Studies have shown that 60-100% of patients with this condition present with colonization by Staphylococcus aureus. Given increasing rates of antimicrobial resistance, the sensitivity to antimicrobials of S. aureus colonizing atopic patients has been investigated. Cross-sectional studies worldwide suggest that the prevalence of methicillin-resistant S. aureus infection (MRSA) in the AD population varies from 0% to 30.8%. OBJECTIVES: The objectives of this study were to determinate the prevalence of S. aureus and MRSA in patients with AD in two dermatologic centers in Porto Alegre, Brazil. METHODS: A total of 91 patients with AD attending two dermatologic centers in Porto Alegre were enrolled in this study from December 2009 to July 2011. Two skin swabs were taken from each patient, one from the nares and the other from a non-infected eczematous skin lesion. The swabs were sent to the laboratory, where standard procedures to isolate bacteria and identify S. aureus, antimicrobial resistance, and sensitivity patterns were carried out. The severity of AD was defined using the Eczema Area and Severity Index (EASI). RESULTS: Of the 91 patients sampled, 67 (73.6%) patients were found to be positive for S. aureus colonization. Nasal swabs were positive in 55 (60.4%) patients, lesional swabs in 44 (48.4%) patients, and both lesional and nasal swabs were positive in 32 (35.2%) patients. Patients with positive swabs had a higher mean ± standard deviation EASI score [mean (9.1 ± 8.8)] compared with patients with negative swabs (3.9 ± 3.6) (P = 0.002). None of the 91 patients showed any evidence of MRSA infection. Overall, nearly 32% of the S. aureus isolated from nasal swabs and 36.40% of the S. aureus isolated from lesional swabs was resistant to erythromycin. CONCLUSIONS: The results of this study confirm a high rate of S. aureus colonization in pediatric patients with AD and indicate a relevant association between colonization and high EASI score. No MRSA was found in cultures from this sample of patients in southern Brazil. Nearly one-third of isolates were identified as resistant to erythromycin, an antibiotic that is commonly used in pediatric patients.

Bacterial skin colonization and infections in patients with atopic dermatitis.

Atopic Dermatitis is a chronic inflammatory skin disease that affects a large number of children and adults. The disease results from an interaction between genetic predisposition, host environment, skin barrier defects, and immunological factors. A major aggravating factor associated with Atopic Dermatitis is the presence of microorganisms on the patient's skin surface. Staphylococcus aureus and Streptococcus pyogenes, for instance, can exacerbate chronic skin inflammation. As a result, antimicrobials have often been prescribed to control the acute phase of the disease. However, increased bacterial resistance to antimicrobial agents has made it difficult for dermatologists to prescribe appropriate medication. In the presence of disseminated dermatitis with secondary infection, systemic antibiotics need to be prescribed; however, treatment should be individualized, in an attempt to find the most effective antibiotic with fewer side effects. Also, the medication should be used for as short as possible in order to minimize bacterial resistance.

Bacterial skin colonization and infections in patients with atopic dermatitis / Colonização bacteriana e infecções da pele em pacientes com dermatite atópica

Atopic Dermatitis is a chronic inflammatory skin disease that affects a large number of children and adults. The disease results from an interaction between genetic predisposition, host environment, skin barrier defects, and immunological factors. A major aggravating factor associated with Atopic Dermatitis is the presence of microorganisms on the patient's skin surface. Staphylococcus aureus and Streptococcus pyogenes, for instance, can exacerbate chronic skin inflammation. As a result, antimicrobials have often been prescribed to control the acute phase of the disease. However, increased bacterial resistance to antimicrobial agents has made it difficult for dermatologists to prescribe appropriate medication. In the presence of disseminated dermatitis with secondary infection, systemic antibiotics need to be prescribed; however, treatment should be individualized, in an attempt to find the most effective antibiotic with fewer side effects. Also, the medication should be used for as short as possible in order to minimize bacterial resistance.

A dermatite atópica é uma doença inflamatória crônica da pele que afeta um grande número de crianças e adultos. A doença resulta da interação entre predisposição genética, fatores ambientais, defeitos da barreira cutânea e fatores imunológicos. Um dos grandes fatores agravantes associados à dermatite atópica é a presença de microorganismos na superfície cutânea desses pacientes. Staphylococcus aureus e Streptococcus pyogenes, por exemplo, podem exacerbar a inflamação crônica da pele. Como resultado, antimicrobianos são prescritos para controlar a fase aguda da doença. O constante crescimento da resistência bacteriana aos antimicrobianos tem tornado a escolha do mais adequado medicamento uma difícil decisão para os dermatologistas. Na presença de dermatite disseminada com infecção secundaria, antibióticos sistêmicos necessitam ser prescritos; no entanto, o tratamento deve ser individualizado, de forma a encontrar o antimicrobiano mais eficaz e com menores efeitos colaterais. Além disso, esse medicamento deve ser utilizado pelo menor tempo possível, a fim de minimizar a resistência bacteriana.

Identification of Malassezia yeast species isolated from patients with pityriasis versicolor.

Pityriasis versicolor (PV) is a disease with worldwide distribution. Twelve different species of Malassezia yeast have been described. The objective of this study was to determine which species of Malassezia are more prevalent in patients with pityriasis versicolor. Samples were collected by scraping the lesions of 87 patients with a clinical suspicion of pityriasis versicolor. The samples were then submitted to fungal microscopy and culture to identify the species. The species found were: Malassezia sympodialis (30%), Malassezia furfur (25.7%), Malassezia globosa (22.7%), Malassezia restricta (12.1%), Malassezia obtusa (7.6%) and Malassezia slooffiae (1.5%).

Identificação de espécies de malassésia na pitiríase versicolor em um serviço de dermatologia do sul do Brasil / Identification of Malassezia yeast species isolated from patients with pityriasis versicolor

A pitiríase versicolor é uma doença de distribuição universal. Existe a descrição de 12 espécies de malassezia. O objetivo deste estudo foi determinar quais as espécies de malassezia mais prevalentes nos pacientes com pitiríase versicolor. Foram realizadas as coletas através de raspado das lesões nos pacientes com suspeita clínica de pitiríase versicolor e posterior exame micológico e cultural para identificação final da espécie. Foram coletadas amostras de 87 pacientes. Quanto às culturas, 30 percent foram de Malassezia sympodialis, 25,7 percent de Malassezia furfur, 22,7 percent de Malassezia globosa, 12,1 percent de Malassezia retrita, 7,6 percent de Malassezia obtusa e 1,5 percent de Malassezia sloofiae.

Pityriasis versicolor (PV) is a disease with worldwide distribution. Twelve different species of Malassezia yeast have been described. The objective of this study was to determine which species of Malassezia are more prevalent in patients with pityriasis versicolor. Samples were collected by scraping the lesions of 87 patients with a clinical suspicion of pityriasis versicolor. The samples were then submitted to fungal microscopy and culture to identify the species. The species found were: Malassezia sympodialis (30 percent), Malassezia furfur (25.7 percent), Malassezia globosa (22.7 percent), Malassezia restricta (12.1 percent), Malassezia obtusa (7.6 percent) and Malassezia slooffiae (1.5 percent).

Exposição solar, fotoproteção e câncer da pele: comparação entre os conhecimentos auto-referidos por médicos residentes em pediatria e dermatologia / Sun exposure, photoprotection and skin cancer: a comparison of self-reported knowledge by pediatrics and dermatology residents

Objetivo: Avaliar os dados com os quais trabalham os residentes dos Serviços de Pediatria de Porto Alegre ­ RS sobre fotoproteção e câncer da pele, comparados com os especializandos de dermatologia da mesma cidade. Materias e métodos: Estudo descritivo transversal; incluindo 58 residentes de pediatria (RP) e 34 especializandos de dermatologia (ED) que responderam a questionário estruturado sobre fotoproteção e câncer da pele. Resultados: Dos RP 38% e dos ED 97% obtiveram informações sobre fotoproteção na pós-graduação. Quando perguntado aos RP se indicam protetor solar, 15% indicam sempre, 36,20% freqüentemente, 36,20% algumas vezes, 11,9% raramente. Quando realizado o mesmo questionamento aos ED, 67,64% indicam sempre, 29,41% freqüentemente e 2,95% algumas vezes (p= 0,0002). Quanto à capacidade de avaliar sinais em crianças, dentre os RP ,17,24% afirmam sentirem-se muito capazes, 70,68% pouco capazes e 12,06% incapazes. Já dentre os ED, 44,11% sentem-se muito capazes, 52,94% pouco capazes e 2,94% incapazes (p= 0,015). Conclusão: Os dados sugerem que os residentes de pediatria provavelmente devam aprimorar seus estudos em fotoproteção. É importante ressaltar o papel dos programas de pós-graduação em Pediatria em enfatizar a necessidade de estudos sobre fotoproteção e em capacitar adequadamente os futuros profissionais para avaliações de lesões cutâneas em crianças (AU)

Objective: To evaluate information concerning photoprotection and skin cancer as used by pediatrics residents in comparison to dermatology residents in Porto Alegre ­ RS. Material and Methods: This is a transversal descriptive study including 58 pediatrics residents (PRs) and 34 dermatology residents (DRs) who answered a questionnaire about their knowledge and practices as regards photoprotection and skin cancer. Results: Thirty eight percent of the PRs and 97% of the DRs had received information about photoprotection in postgraduate courses. When asked if they prescribe sunscreens, 15% of the PRs said they always do, 36.20% often do, 36.20% sometimes, and 11.9% rarely. On the other hand, 67.64% of the DRs said they always prescribe sunscreens, 29.41% often do and 2.95% sometimes (p=0.0002). Concerning the ability to evaluate signs in children, 17.24% of the PR said they feel very capable, 70.68% little capable and 12.06% incapable. Among the DRs, 44.11% felt very capable, 52.94% little capable and 2.94% incapable (p=0,015). Conclusion: The data suggest that the pediatrics residents should improve their knowledge on photoprotection. It is important to highlight the role of the pediatrics graduate programs in emphasizing the need for studies into photoprotection and in adequately qualifying the future professionals to evaluate skin lesions in children (AU)

Relação entre de prurido e qualidade de vida de pacientes em hemodiálise / Relationship between pruritus and quality of life in patients on hemodialysis

FUNDAMENTOS: O prurido é um sintoma freqüente nos pacientes em hemodiálise. Tem etiologia não totalmente esclarecida e difícil manejo, o que piora de modo considerável a qualidade de vida dos doentes. OBJETIVOS: Avaliar o grau de prurido e sua influência na qualidade de vida dos pacientes renais crônicos em hemodiálise. MÉTODOS: Estudo transversal com pacientes renais crônicos em hemodiálise no Complexo Hospitalar Santa Casa de Porto Alegre, que apresentassem prurido sem outras dermatoses. Utilizou-se a escala análoga visual para mensuração do grau de prurido e o questionário do Índice de Qualidade de Vida para Dermatologia. RESULTADOS: Dos 200 pacientes avaliados, 69 (34,5 por cento) apresentaram prurido, dos quais 16 (23 por cento) de grau leve, 39 (56,5 por cento) moderado e 14 (20,2 por cento) grave. Quando analisada a qualidade de vida, verificou-se que em 14 (20,3 por cento) não houve influência do prurido na qualidade de vida. Entretanto, para 26 pacientes (37,4 por cento), o prurido teve um pequeno efeito, em nove (13 por cento) houve efeito moderado, 13 (18,8 por cento) foram afetados de maneira grave e em sete (10,1 por cento) houve influência extremamente grave. CONCLUSÕES: Neste estudo, 57 por cento dos indivíduos não demonstraram alterações importantes na qualidade de vida relacionadas ao prurido, mas um número significativo estava na faixa de muito e extremamente alterado, o que denota a necessidade de atenção ao tratamento deste sintoma neste grupo de pacientes.

INTRODUCTION: Pruritus is a frequent symptom affecting patients on hemodialysis. Its etiology is not known and treatment is difficult. This symptom considerably worsens the patients’ quality of life. OBJECTIVES: To evaluate the degree of pruritus and its influence on the quality of life of patients on hemodialysis. METHODS: Patients with chronic renal disease on hemodialysis and presenting pruritus in a Hospital of Porto Alegre were enrolled in this transversal study. A visual analogue scale for measuring the degree of pruritus was used and the Dermatology Life Quality Index questionnaire was applied. RESULTS: Of 200 evaluated patients; 69 (34.5 percent) presented pruritus, of whom 16 (23 percent) of mild degree, 39 (56.5 percent) moderate, 14 (20.2 percent) severe. Quality of life assessment revealed that in 14 of the patients (20.3 percent) there was no influence of pruritus, in 26 (37.4 percent) there was a small effect, in nine (13 percent) a moderate effect, in 13 (18.8 percent) a serious effect and in seven (10.1 percent) there was an extremely serious influence of pruritus on the quality of life. CONCLUSIONS: In this study, 57 percent of the individuals did not demonstrate important alterations in the quality of life related to the pruritus. A significant number of patients on hemodialysis have their quality of life from moderately to extremely modified by pruritus, which demonstrates the need for treating this symptom.

Necrólise epidérmica tóxica induzida porlamotrigina / Toxic epidermal necrolisis induced bylamotrigine

A Necrólise Epidérmica Tóxica (NET) é uma reação muco-cutânea potencialmentefatal, aguda e febril, comumente induzida por drogas e caracterizada por necrose e esfoliaçãodisseminadas na epiderme, envolvendo mais de 30% da superfície corpórea. Suaincidência é de 0,4 a 1,2 casos por milhão de pessoas por ano, com mortalidade entre 30 a70% dos casos. As drogas mais comumente associadas são as sulfonamidas, os anticonvulsivantes,os antiinflamatórios não-esteróides e o alopurinol. A lamotrigina, anticonvulsivanteindicado para o tratamento de crises convulsivas, epilepsia em gestantes e estabilizadordo humor, pode acarretar em até 15% dos casos lesões máculo-papulares simples.A ocorrência de reações cutâneas graves como NET é rara. O objetivo deste trabalhoé apresentar um caso de NET ocorrido pelo uso de lamotrigina, cuja evolução e recuperaçãoforam bastante favoráveis. Diante do quadro clínico, faz-se necessário o diagnósticodiferencial com síndrome da hipersensibilidade aos anticonvulsivantes e síndrome de Stevens-Johnson.

Toxic Epidermal Necrolysis (TEN) is a acute, but potencially lethal mucocutaneousreaction, usually caused by drugs leading to epidermal necrosis and exfoliation of over30% of body skin surface. Its incidence ranges from 0,4 to 1,2 cases per million peopleevery year and 30-70% death. He most commom drugs related to this condition are sulfonamides,antiepileptic drugs, NSAIDs and alopurinol. Lamotrigine, a drug used in thetreatment of seizures, epilepsy in pregnant women and as a mood stabilising agent, maylead to simple maculopapular rashes in 15% of cases. Serious cutaneous reactions, likeTEN, are rare. The purpose of this paper is to present the case of a patient who developedTEN due to use of lamotrigine and had a great recovery. Differencial diagnosis withanticonvulsant hypersensitivity syndrome and Stevens-Johnson syndrome may be done,once clinical manifestations may be similar.