Minimal Critical Region and Genes for a Typical Presentation of Langer-Giedion Syndrome.

Langer-Giedion syndrome (LGS) is caused by a contiguous deletion at 8q23q24, characterized by exostoses, facial, ectodermal, and skeletal anomalies, and, occasionally, intellectual disability. LGS patients have been diagnosed clinically or by routine cytogenetic techniques, hampering the definition of an accurate genotype-phenotype correlation for the syndrome. We report two unrelated patients with 8q23q24 deletions, characterized by cytogenomic techniques, with one of them, to our knowledge, carrying the smallest deletion reported in classic LGS cases. We assessed the pathogenicity of the deletion of genes within the 8q23q24 region and reviewed other molecularly confirmed cases from the literature. Our findings suggest a 3.2-Mb critical region for a typical presentation of the syndrome, emphasizing the contribution of the TRPS1, RAD21, and EXT1 genes' haploinsufficiency, and facial dysmorphisms as well as bone anomalies as the most frequent features among patients with LGS. We also suggest a possible role for the CSMD3 gene, whose deletion seems to contribute to central nervous system anomalies. Since studies performing such correlation for LGS patients are limited, our data contribute to improving the ge-notype-phenotype characterization for LGS patients.

Pemphigus Vulgaris After COVID-19: a Case of Induced Autoimmunity.

Bullae autoimmune diseases can be induced by environmental factors in a genetically susceptible individual, and viruses may be important triggers for this process. Coronavirus disease 2019 (COVID-19) is a multisystemic disease known for developing many types of skin lesions. However, little is known about post-COVID-19 manifestations. A previous healthy male patient, 43 years old, with resistant mediastinal Hodgkin's lymphoma stage II diagnosed in 2019, without treatment at the moment, developed monomorphic flaccid bullae on the trunk 40 days after testing positive for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Although he had risk factors for IgA and paraneoplastic pemphigus, there were no elements for these diseases. The investigation confirmed a pemphigus vulgaris (PV). PV had a good response to treatment with prednisolone 1 mg/kg per day, and methotrexate 15 mg subcutaneously was added per week. The patient was discharged with oral methotrexate and prednisolone at the same dose. Prednisolone was decreased by 20 mg per day during the follow-up. Viruses such as herpesvirus, cytomegalovirus, and varicela zoster can act as triggers for PV. This process is not immediate after the infection because it depends on the change in antibodies initially produced against the virus that start to identify antigens present in the skin's anchoring structures. SARS-CoV-2 can induce autoimmunity, as seen in Guillán-Barré syndrome and in Kawasaki disease. It is a highly immunogenic virus that is the perfect agent for triggering PV. This case can be considered a cutaneous autoimmune post-COVID-19 manifestation.

Deletion 21pterq22.11: Report of a Patient with Dysmorphic Features, Hypertonia, and Café-au-Lait Macules and Review of the Literature.

Partial monosomy 21 results in a great variability of clinical features that may be associated with the size and location of the deletion. In this study, we report a 22-month-old girl who showed a 45,XX,add(12)(p13)dn,-21 karyotype. The final cytogenomic result was 45,XX,der(12)t(12;21)(p13;q22.11) dn,-21.arr[hg19] 21q11.2q22.11(14824453_33868129)×1 revealing a deletion from 21pter to 21q22.11. Clinical manifestation of the patient included hypertonia, a long philtrum, epicanthic folds, low-set ears, and café-au-lait macules - a phenotype considered as mild despite the relatively large size of the deletion compared to patients from the literature.

Observational study of multiple myeloma in Latin America.

Relatively little is known about the outcomes of multiple myeloma in Latin America, a world region where incorporation of novel agents is generally slow. In the current retrospective-prospective study, we aimed to describe the patterns of care and treatment results in five Latin American countries. Between April 2007 and October 2009, patients who had been diagnosed from January 2005 to December 2007 were registered at 23 institutions from Argentina, Brazil, Chile, Mexico, and Peru. We divided patients into two cohorts, according to transplantation eligibility, and analyzed them with regard to first-line treatment and overall survival (OS). We analyzed a total of 852 patients, 46.9 % of whom were female. The median follow-up was 62 months. Among transplantation-ineligible patients (N = 461), the mean age was 67.4 years, approximately one third of patients received a thalidomide-based treatment in the first line, and the median OS was 43.0 months. Transplantation-eligible patients (N = 391) had a mean age of 54.7 years and a median OS of 73.6 months. Autologous transplantation was performed in 58.6 % of the patients for whom this procedure was initially planned and in only 26.9 % of the overall patients. Our long-term results reflect the contemporary literature for patients with multiple myeloma treated with autologous transplantation and thalidomide-based regimens in clinical trials and observational studies. However, further efforts are needed to approve and incorporate novel agents in Latin American countries, as well as to increase access to transplantation, in order to achieve the expected improvements in patient outcomes.

Transplante de células-tronco hematopoéticas em gamopatias monoclonais / Hematopoietic stem cell transplantation for monoclonal gammopathies

O transplante de células-tronco hematopoéticas (TCTH) é um procedimento de fundamental importância na estratégia terapêutica das gamopatias monoclonais. No mieloma múltiplo, em particular, o TCTH autólogo está indicado como estratégia de primeira linha para pacientes até 70 anos de idade. Nesta capítulo serão discutidas as indicações, estratégias e recomendações envolvendo o TCTH em gamopatias monoclonais, amiloidose e POEMS, frutos da Reunião de Consenso da Sociedade Brasileira de Transplante de Medula Óssea.

Hematopoietic stem cell transplantation (HSCT) is an important strategy in the treatment of monoclonal gammopathies. For multiple myeloma, in particular, autologous HSCT is indicated as first line therapy for under 70-year-old patients. In this chapter we will discuss indications, strategies and recommendations involving HSCT for monoclonal gammopathies from the Consensus Meeting of the Brazilian Society of Bone Marrow Transplantation.

A experiência assistencial da Fhemig na atenção a doenças infecciosas respiratórias agudas durante o enfrentamento da epidemia de Influenza A H1N1, no estado de Minas Gerais em 2009 / Fhemig experience in the care of acute respiratory infectious diseases during the fight against the H1N1 Influenza epidemic in Minas Gerais State in 2009

A epidemia pelo vírus influenza A H1N1 no estado de Minas Gerais mobilizou a sociedade e a resposta articulada dos serviços de saúde em ações coordenadas pelo Comitê Estadual. Objetivo: descrever o atendimento ambulatorial e hospitalar para doenças respiratórias infecciosas agudas realizado nas Unidades da rede Fhemig nas semanas epidemiológicas 33 a 41 de 2009. Método: estudo prospectivo de dados fornecidos semanalmente pelas unidades assistenciais à administração central, para fins de monitoramento e gestão da clínica. Resultados: ocorreu um total de 1.396 atendimentos no período em 11 unidades na região metropolitana de Belo Horizonte e interior do estado, com 29 por cento de internações em enfermarias e 6,7 em CTI, predomínio de pacientes de 15-24 anos, 42,4 por cento sem fatores de risco para complicações e 2,4 por cento de óbitos; 50 por cento (698) dos casos receberam antiviral oseltamivir. O pico de atendimentos ocorreu na 35ª semana (entre 30/08 e 05/09/2009). Confirmou-se influenza A H1N1 em 2,4 por cento dos casos atendidos e 399 exames permaneciam pendentes. Insuficiência renal dialítica, uso de ventilação mecânica e vasopressores foram preditores de óbito. Pneumonia associada à ventilação elevou o risco de óbito em 76 por cento (RR:1,76; IC 95 por cento 1,07-2,88). Conclusão: a Fhemig participou de forma articulada no processo assistencial durante a epidemia e desenvolveu mecanismos de gestão da clínica de forma a garantir a qualidade assistencial e responder à demanda da sociedade, junto com os demais parceiros.

Incidence and risk factors of aplastic anemia in Latin American countries: the LATIN case-control study.

UNLABELLED: Background Associations between aplastic anemia and numerous drugs, pesticides and chemicals have been reported. However, at least 50% of the etiology of aplastic anemia remains unexplained. DESIGN AND METHODS: This was a case-control, multicenter, multinational study, designed to identify risk factors for agranulocytosis and aplastic anemia. The cases were patients with diagnosis of aplastic anemia confirmed through biopsy or bone marrow aspiration, selected through an active search of clinical laboratories, hematology clinics and medical records. The controls did not have either aplastic anemia or chronic diseases. A total of 224 patients with aplastic anemia were included in the study, each case was paired with four controls, according to sex, age group, and hospital where the case was first seen. Information was collected on demographic data, medical history, laboratory tests, medications, and other potential risk factors prior to diagnosis. RESULTS: The incidence of aplastic anemia was 1.6 cases per million per year. Higher rates of benzene exposure (>/=30 exposures per year) were associated with a greater risk of aplastic anemia (odds ratio, OR: 4.2; 95% confidence interval, CI: 1.82-9.82). Individuals exposed to chloramphenicol in the previous year had an adjusted OR for aplastic anemia of 8.7 (CI: 0.87-87.93) and those exposed to azithromycin had an adjusted OR of 11.02 (CI 1.14-108.02). Conclusions The incidence of aplastic anemia in Latin America countries is low. Although the research study centers had a high coverage of health services, the underreporting of cases of aplastic anemia in selected regions can be discussed. Frequent exposure to benzene-based products increases the risk for aplastic anemia. Few associations with specific drugs were found, and it is likely that some of these were due to chance alone.

Incidence and risk factors for agranulocytosis in Latin American countries--the Latin Study: a multicenter study.

PURPOSE: LATIN is a multinational case-control study designed to identify risk factors for agranulocytosis and to estimate the incidence rate of the disease in some Latin American countries. METHODS: Each study site in Brazil, Argentina and Mexico conducted an active search of agranulocytosis patients in hematology clinics and looked for possible associations with drug use. RESULTS: The overall incidence rate was 0.38 cases per 1 million inhabitant-years. Agranulocytosis patients more often took medications already associated with agranulocytosis than controls (p = 0.01), mainly methimazole (OR 44.2, 95% CI 6.8 to infinity). The population attributable risk percentage (etiologic fraction) was 56%. The use of nutrient supplements was more frequent among patients than controls (p = 0.03). CONCLUSIONS: Agranulocytosis seems to be very rare in Latin America. The lower than expected number of cases identified during the study period precluded estimation of the risk associated to individual drugs, with the exception of methimazol. However, this is the longest series of agranulocytosis cases ever gathered in Latin America, and information on drug exposures was collected prospectively. The conclusion is that drug-induced agranulocytosis does not seem to be a major public health problem in the study regions.

Estudo retrospectivo do tratamento de leucemia mielóide aguda com o transplante de medula óssea: a experiência brasileira / Retrospective study of stem cell transplantation for acute myeloid leukemia (AML): the Brazilian experience

Dados do Registro Internacional de Transplante de Medula Óssea, International Bone Marrow Transplant Registry (IBMTR) contribuem para o progresso do transplante de medula óssea (TMO) em todo o mundo. Neste artigo relatamos a experiência brasileira em leucemia mielóide aguda e comparamos os resultados do TMO com os dados internacionais. Foi realizado um estudo retrospectivo com dados de tratamento de LMA com o TMO de 16 instituições brasileiras. A análise estatística dos transplantes da modalidade autogênica (TMO auto) e alogênica (TMO alo) foi realizada com o método de Kaplan-Meier e log-rank. Todos os valores de p foram bicaudados. Foram avaliados os dados de 731 pacientes (205 TMO auto e 526 TMO alo). A mediana de sobrevida global dos pacientes submetidos ao TMO auto foi superior à dos submetidos ao TMO alo (1.035 vs 466 dias, p=0,0012). A origem das células-tronco (OCT) no TMO alo em 73% dos pacientes foi de medula óssea (CTMO), em 23% de sangue periférico (CTSP) e em 4% de cordão umbilical. No TMO auto, a OCT foi 63% de CTSP, 22% CTMO e 15% de ambas as fontes. A OCT não teve impacto na sobrevida global (SG). Não houve diferença na SG também entre os pacientes segundo a classificação FAB no TMO alo, mas os pacientes com LMA M3 com o TMO auto tiveram SG longa. Como esperado, a principal causa de óbito entre os pacientes do TMO auto foi relacionada à recidiva de doença (60%), enquanto no TMO alo as principais causas foram a doença enxerto versus hospedeiro e infecções (38%). Em ambos os grupos foi observada SG mais longa nos pacientes tratados em primeira remissão completa (1RC) quando comparados aos de segunda remissão (2RC) e outras fases (p<0,0001), tendo sido observado SG mais longa nos pacientes com LMA de novo quando comparados aos de LMA secundária. No TMO alo a SG foi mais longa com doadores aparentados (538 versus 93 dias p=0,001). A SG foi mais curta nos pacientes que utilizaram irradiação corpórea total no regime de condicionamento (p=0,0001)...

Data from the International Bone Marrow Transplant Registry (IBMTR) contribute for the improvement of Bone Marrow Transplant (BMT) worldwide. We studied the Brazilian experience in BMT for AML to compare this with international data. We performed a retrospective study by sending questionnaires to 16 BMT centers regarding clinical and treatment variables. Statistical analyses concerning autologous BMT (autoBMT) and allogeneic BMT (alloBMT) were performed using the Kaplan-Meier method and the log-rank test. All p-values were two-tailed. We collected data from 731 patients (205 autoBMT and 526 alloBMT). Median overall survival (OS) for autoBMT patients was longer than alloBMT patients (1035 vs. 466 days, p=0.0012). AlloBMT stem cell source (SCS): 73% bone marrow stem cell (BMSC), 23% peripheral blood stem cells (PBSC) and 4% umbilical cord blood. Among the autoBMT patients, the SCS was 63% PBSC, 22% BMSC and 15% both. The SCS did not impact on OS. There was no difference in OS between different FAB classifications in the alloBMT group, but in the autoBMT the M3 patients had longer survival. As expected, the main cause of mortality among autoBMT patients was related to disease relapse (60%), while in the alloBMT, to infection (38%). In both groups we found longer OS in first complete remission (1CR) compared to second (2CR) and other (p<0.0001), and longer OS in de novo AML than in secondary...

Propriedades biológicas do hidróxido de cálcio e suas aplicações na clínica endodôntica / Biological properties of calcium hidroxide and its application in clinical endodontics

Este trabalho consta de uma revisão bibliográfica das propriedades biológicas do hidróxido de cálcio e suas aplicações na clínica endodôntica

Ações educativas: da gestação ao puerpério

Uma abordagem ao puerpério e os cuidados inerentes a ele, principalmente no que diz respeito ao binômio mãe-filho, deve ser fruto de profunda reflexão e discussão, por parte dos trabalhadores da saúde, tendo em vista o objetivo final, a promoção da saúde na família e, como conseqüência, da sociedade de uma forma geral. A atenção obstétrica e neonatal deve ter como características essenciais a qualidade e a humanização. É dever dos serviços e profissionais de saúde acolher com dignidade a mulher e o recém-nascido, enfocando-os como sujeitos de direitos. Esse acolher, ou acolhimento, é aspecto essencial da política de humanização. Implica recepção da mulher, desde sua chegada na unidade de saúde, responsabilizando-se por ela, ouvindo suas queixas, permitindo que ela expresse suas preocupações, angústias, garantindo atenção resolutiva e articulação com os outros serviços de saúde para a continuidade da assistência, quando necessário. O bom conhecimento do assunto pelo enfermeiro e a habilidade em usar estratégias de ensino, contribuirão para a eficácia de suas ações. Assim, o enfermeiro, ao desenvolver ações educativas com a puérpera, deverá fazê-las visando ao autocuidado, à participação da puérpera nos cuidados com o recém-nascido, bem como de seu bem estar geral. O objetivo deste estudo é elaborar uma cartilha, englobando os cuidados primários da enfermagem na atenção à puérpera e ao recém-nascido para a promoção à saúde e a prevenção de agravos. Para elaboração desta cartilha foi realizada uma avaliação crítica da literatura a respeito dos cuidados primários na atenção à puérpera e ao recém-nascido e sobre a importância da enfermagem nesta linha de cuidado da saúde da mulher. A partir disso houve a elaboração de propostas de cartilha, que foram discutidas e revisadas por painel de profissionais do serviço, até a versão produzida. A educação em saúde é fundamental para garantir a promoção da saúde materna e infantil. Esta cartilha foi elaborada para oferecer material para potencializar a educação em saúde da mulher. Os dados levantados permitem o estabelecimento de orientações adequadas sobre as alterações e fases do puerpério, que devem ser disponibilizadas para mulheres nesta fase importante da vida feminina. Importante assinalar que a cartilha educativa, deve ser amplamente discutida pela equipe por todos os profissionais e pessoas envolvidas na assistência ao recém-nascido, visando à assistência integral a essa população.