A brazilian nationwide multicenter study on deficiency of deaminase-2 (DADA2)

Abstract Introduction The deficiency of ADA2 (DADA2) is a rare autoinflammatory disease provoked by mutations in the ADA2 gene inherited in a recessive fashion. Up to this moment there is no consensus for the treatment of DADA2 and anti-TNF is the therapy of choice for chronic management whereas bone marrow transplantation is considered for refractory or severe phenotypes. Data from Brazil is scarce and this multicentric study reports 18 patients with DADA2 from Brazil. Patients and methods This is a multicentric study proposed by the Center for Rare and Immunological Disorders of the Hospital 9 de Julho - DASA, São Paulo - Brazil. Patients of any age with a confirmed diagnosis of DADA2 were eligible for this project and data on clinical, laboratory, genetics and treatment were collected. Results Eighteen patients from 10 different centers are reported here. All patients had disease onset at the pediatric age (median of 5 years) and most of them from the state of São Paulo. Vasculopathy with recurrent stroke was the most common phenotype but atypical phenotypes compatible with ALPS-like and Common Variable Immunodeficiency (CVID) was also found. All patients carried pathogenic mutations in the ADA2 gene. Acute management of vasculitis was not satisfactory with steroids in many patients and all those who used anti-TNF had favorable responses. Conclusion The low number of patients diagnosed with DADA2 in Brazil reinforces the need for disease awareness for this condition. Moreover, the absence of guidelines for diagnosis and management is also necessary (t).

Outcomes, toxicity profiles, and prognostic factors of unresectable head and neck cancer treated with chemoradiotherapy

Introduction: Head and neck cancer (HNC) is a heterogeneous group of neoplasms that can have a poor prognosis when diagnosed in advanced stages. The optimized treatment for locally advanced and unresectable lesions is mainly based on radiotherapy associated with chemotherapy (cisplatin 100mg/m²), however, at the expense of a high toxicity index. Objective: Evaluate whether chemoradiotherapy (CRT) ­ the goldstandard treatment for locally advanced head and neck cancer (HNC) ­ is effective in the study population. Methods: This is a retrospective study aimed at determining the efficacy of definitive CRT in patients with unresectable HNC treated between the 2012 and 2018 in a single institution. The following outcomes were evaluated: objective response rate (ORR), progression-free survival (PFS), overall survival (OS), and toxicity profiles. Results: Fifty-two (52) patients diagnosed with HNC between 2012 and 2018 met the inclusion criteria. The ORR was 84.6%, with 50% showing complete response. Median PFS and OS were 35.3 and 52 months, respectively. Analysis of the toxicity profiles revealed that 69.2% of the patients presented grade 3-4 toxicity. Completion of two or more cycles of cisplatin-based therapy (HR 3.57 [95% CI 1.25­10.25]; p p<0.001), grade 3-4 toxicity (HR 0.27 [95% CI 0.09-0.8] ­ p<0.02), and Charlson comorbidity index (CCI) (HR 3.23 [95% CI 1.26­8.29]; p<0.001) were significantly associated with survival. Regarding toxicity, prophylactic low-level laser therapy (HR 0.48 [95% CI 0.27­0.86]; p<0.001 for those without this practice) and body mass index (BMI) (HR 0.27 [95% CI 0.09­0.76]; p<0.01) showed statistical significance. Conclusion: CRT was effective to treat HNC in the study population, with PFS and OS comparable to those reported in larger sample studies and lower toxicity grade. Some clinical characteristics have been identified as prognostic and/or predictive factors.

A autoliberação miofascial sobre o desempenho de potência muscular em atletas de futebol sub-13 / The myofascial self-liberation on muscular power performance in sub-13 soccer athletes

Este estudo investiga o efeito da autoliberação miofascial sobre o desempenho de potência muscular no salto vertical, salto horizontal e agilidade uniplanar em atletas de futebol sub-13, cuja amostra foi composta por 22 adolescentes do sexo masculino, praticantes de uma escolinha de futebol da cidade de Juiz de Fora, MG. Ao todo, realizaram-se três dias de testes de cada variável, assim como o protocolo de autoliberação, com intervalo de 48 horas entre as sessões. Para o protocolo controle, os participantes foram orientados a realizar três tentativas de salto horizontal, vertical e agilidade uniplanar, com intervalo de dois minutos para cada tentativa e uma pausa de cinco minutos entre os testes. Os mesmos procedimentos foram repetidos para a realização do protocolo experimental de autoliberação, porém executou-se, nos pré-testes de membros inferiores, um minuto de autoliberação miofascial, com ordem aleatória dos grupos musculares (quadríceps, isquiostibiais e gastrocnêmio), com o total de seis minutos de autoliberação, validando-se os melhores resultados de cada teste dos protocolos controle e experimental, em que utilizou-se o Foam Rolling. Observou-se uma média de 2,8 (±0,8) para os estágios de desenvolvimento dos participantes, considerando a Escala de Tanner. Quanto ao protocolo de autoliberação, o desempenho no salto vertical foi significativamente superior após a utilização do Foam Rolling, comparado ao controle. Não houve diferença significativa no desempenho de salto horizontal e agilidade uniplanar ao comparar o protocolo controle com o experimental, todavia, efeitos adversos não foram observados na utilização deste método.(AU)

This study investigates the effect of myofascial self-liberation on the performance of muscle power in the variables of vertical jump, horizontal jump and uniplanar agility in under-13 soccer athletes, whose sample was composed of 22 male adolescents, practitioners of a soccer school from the city of Juiz de Fora, MG. In all, three days of tests were performed for each variable, as well as the self-release protocol, with an interval of 48 hours between sessions. For the control protocol, participants were instructed to make three attempts to jump horizontally, vertically and uniplanar agility, with an interval of two minutes for each attempt and a five-minute pause between tests. The same procedures were repeated for the experimental self-liberation protocol, however, in the lower limb pre-tests, a minute of myofascial self-liberation was performed, with a random order of the muscle groups (quadriceps, hamstrings and gastrocnemius), with the total of six minutes of self-liberation, validating the best results of each test of the control and experimental protocols, in which Foam Rolling was used. An average of 2.8 (± 0.8) was observed for the participants' developmental stages, considering the Tanner Scale. As for the selfliberation protocol, the performance in the vertical jump was significantly higher after using Foam Rolling, compared to the control. There was no significant difference in the performance of horizontal jump and uniplanar agility when comparing the control protocol with the experimental one, however, adverse effects were not observed in the use of this method.(AU)

Penile refracture: a preliminary report

ABSTRACT Objective: To report our institutional experience with penile refracture, including demographic data, recurrence time, etiology and operative findings in the first and second episodes. Materials and methods: Between January 1982 and September 2017, 281 patients underwent surgical treatment for penile fracture (PF) at our institution. Demographic data, clinical presentation, besides operative findings and follow-up of patients with relapsed PF were retrospectively assessed by reviewing medical records. Results: Of a total of 281 cases of PF operated at our institution, 3 (1.06%) patients experienced two episodes of trauma. Age ranged from 38 - 40 years (mean: 39.3). The recurrence time varied from 45 to 1560 days (mean: 705). Two patients presented the new fracture episode at the same site of the previous lesion, while in the other case the lesion was observed at another site. Conclusion: Recurrent FP is an extremely rare entity. The risk factors for its occurrence are still unknown. Although the lesion of the corpus cavernosum ipsilateral to the scar tissue of the prior FP is more common, contralateral rupture may be present. Nevertheless, prospective studies with larger samples should be conducted.

Quality indicators of pharmacists' services in community pharmacies in Paraná State, Brazil

ABSTRACT Pharmacists and their pharmacies have been evolving in their roles as health promoters in Brazil. Some examples are the recent legislation reaffirming the role of Brazilian pharmacies as health institutions, rather than having only a commercial profile, giving greater clarity to pharmacists about their roles as health care providers. This evolution came with the recognition that is already seen in other developed countries, confirming the need for the pharmacist as a health promoter, and not simply a dispenser of drugs in society. This study has obtained the profile and activities of community pharmacists, as well as the quality indicators of private community pharmacies throughout the State of Paraná through the application of an online survey sent to pharmacists in the state. Out of all pharmacists surveyed, 533 were part of the final analysis, being the pharmacists to complete the survey in full. Participants were mostly female (69.4%) and were, on average, 35.2 ± 9.2 years old. Of these, 60% worked in pharmacy chains and just 37% of all pharmacist respondents were issuing the Declaration of Pharmaceutical Services. The current study showed that many pharmaceutical services are not adopted by pharmacies as these services bring no significant financial reward. Regarding the structure, the Paraná State showed that pharmacies present a good overall structure. The kind of pharmacy (chain or independent) influenced the pharmaceutical services provided and the available structure, where the independent pharmacies provide a wider range of services and have better structure. This study was able to identify the profile and behaviors of pharmacists and also the quality indicators of pharmacies in Paraná State.

Esquistossomose endocervical: relato de caso / Endocervical schistosomiasis: case report

A esquistossomose mansoni, endemia encontrada em diferentes áreas do território brasileiro, constitui um grave problema de saúde pública no Brasil e no mundo. Formas ectópicas da doença podem acometer o sistema reprodutor feminino, constituindo um tipo raro de infecção pelo S. mansoni. Paciente com 26 anos queixava-se de corrimento vaginal, dispareunia e dor à palpação do hipogástrio. No exame ginecológico foi observado pólipo endocervical, que foi biopsiado. O exame histológico evidenciou vários granulomas envolvendo ovos degenerados e viáveis de Schistosoma mansoni. Tratada com praziquantel, retornou assintomática após quatro semanas do tratamento. Corrimento vaginal e dispareunia podem ser causas secundárias de cervicite por Schistosoma mansoni. Pesquisa de ovos em esfregaço vaginal de rotina ou exame histológico devem fazer parte da avaliação ginecológica de pacientes de área endêmica, com o objetivo de rastrear forma ectópica da esquistossomose do trato genital feminino.

Schistosomiasis mansoni is found in different endemic areas of Brazil. It is a serious public health problem in Brazil and worldwide. Ectopic forms of the disease may affect the female reproductive system, representing a rare type of Schistosoma mansoni infection. A 26-year-old patient complained of vaginal discharge, dyspareunia and pain on palpation of the hypogastrium. Gynecological examination revealed an endocervical polyp. A biopsy was performed. Under microscopy, several granulomas surrounding degenerate and viable eggs of Schistosoma mansoni were seen. Treated with praziquantel, she was asymptomatic after four weeks of treatment. Vaginal discharge and dyspareunia may be secondary causes of cervicitis caused by Schistosoma mansoni. The search for eggs in routine vaginal smear or histological examination should be part of the gynecologic evaluation of patients from endemic areas, with the purpose of tracking ectopic schistosomiasis of the female genital tract.

Prevalência e práticas preventivas em infertilidade entre mulheres atendidas em um serviço público de saúde / Prevalence and preventive practices in infertility among women attending a public health service

Objetivo: O estudo foi feito a fim de avaliar o conhecimento e a prática de medidas preventivas em infertilidade. Método: Durante um mês foi aplicado um questionário às pacientes que frequentam o Ambulatório de Ginecologia da Universidade Federal de Pelotas, de modo consentido e sem se identificar, com perguntas relacionadas à prevenção de infertilidade. Resultados: Os resultados mostram que entre 134 mulheres entrevistadas, 68% nunca se preocuparam com não conseguir ter filhos, 62% responderam saber da existência de medidas que podem prevenir a infertilidade, 49% são sedentárias, 72% fazem uso de preservativos, 36% fumam, 84% evitam ingesta de bebida alcoólica em excesso, 94% não fazem uso de drogas ilícitas, 61% controlam o peso, 77% pensam em ter filhos antes dos 35 anos e 87% consultam regularmente um ginecologista. Conclusão: O índice de apenas 32% das mulheres entrevistadas que se preocupam com não conseguir ter filhos revela a falta de conhecimentos sobre o problema. Embora 62% delas referiram ter conhecimento de medidas que podem prevenir a infertilidade, acredita-se que esse percentual seja menor na população em geral.

Objective: This study was conducted to assess the knowledge and practice of preventive measures in infertility. Methods: For one month a questionnaire was administered to patients who attend the Gynecology, Federal University of Pelotas, so consented and without identifying themselves, with questions related to prevention of infertility. Results: The results show that among 134 women interviewed, 68% never bothered to not be able to have children, 62% said they knew about the measures that can prevent infertility, 49% is sedentary, 72% makes use of condoms, 36% smoke, 84% avoid ingestion of alcohol in excess, 94% did not use illegal drugs, 61% controls weight, 77% think having children before 35 years and 87% of the group regularly consults a gynecologist. Conclusion: Since only 32% of women are concerned with can’t have children, reveals a lack of knowledge about the problem. Although 62% of them reported that he is aware of measures which can prevent infertility, it is believed that this percentage is smaller in the general population.

Técnicas de hemostasia na cirurgia endonasal endoscópica para tumores selares / Haemostatic techniques in endoscopic endonasal surgery for sellar tumors

A via cirúrgica endonasal vem ganhando popularidade no tratamento dos tumores selares. Dentre suas complicações, as hemorragias intra e pós-operatórias devem ser evitadas e tratadas precocemente quando presente. Neste estudo temos como objetivo relatar nossa experiência no manejo destas complicações...

Endoscopic endonasal surgery has increasing popularity in the treatment of sellar tumors. Among its complications, intra and postoperatory hemorrhage must be avoided and immediatly treated if present. In this study the endpoint is report our experience and how we approach this complications...

Hematomas encefálicos não traumáticos - Critérios de tratamento / Nontraumatic brain hematomas - Criteria for treatment

O hematoma encefálico não-traumático (HENT) é uma doença conhecida há muito, mas somente a partir do advento da tomografia computadorizada, na década de 1970, passou a ser melhor estudada, considerando sua topografia, volume, evolução e efeitos sobre as estruturas vizinhas. Neste trabalho, foram revistos, retrospectivamente, 114 pacientes da clínica neurológica e cirúrgica do Hospital Regional do Sul de Minas, em Varginha, no período de 1991 a 2000, analisando-se as condutas tomadas, o resultado do tratamento conservador ou cirúrgico e sua evolução. Consideram-se os elementos do quadro clínico e os achados nos exames de tomografia computadorizada, sendo excluídos pacientes portadores de hemorragia subaracnóide primária, hemorragias encefálicas traumáticas ou tumores anteriormente diagnosticados.