Injúria miocárdica aguda em paciente com miocardiopatia secundária à Ataxia de Friedreich / Acute myocardial injury in a patient with cardiomyopathy secondary to Friedreich's Ataxia

CASO: Paciente portador de Ataxia de Friedreich, internou-se no serviço com quadros gripais e assintomático do ponto de vista cardiovascular nos anos de 2021 e 2022, teste de covid negativos, onde apresentou alteração da troponina ultrassensível para níveis de 1400pg/ml com BNPs normais e foi submetido à ressonância magnética do coração (RMC) em 2021 que evidenciou FEVE discretamente reduzida de 46% à custa de hipocinesia difusa, hipertrofia concêntrica, ausência de edema miocárdico/ mapas t1 e t2 nativos preservados, realce tardio (RT) mesoepicárdico na parede lateral basal e transmural na parede lateral média. Troponina do paciente após 3 meses da alta hospitalar encontrava-se em 850pg/ml, 2 anos após 570pg/ml e 3 anos após 321pg/ml. RMC de 12/2023 evidenciou FEVE de 48% à custa da hipocinesia difusa, aumento concêntrico do VE, com maior espessura de 14mm das paredes inferior e lateral e mesmo padrão do RT. DISCUSSÃO: A ataxia de Friedreich (AF) é um distúrbio neuromuscular raro (3­4 casos por 100.000 indivíduos) causado por uma expansão repetida do trinucleotídeo guaninaadenina-adenina (GAA) no gene da frataxina (FXN) que resulta em expressão reduzida da FXN, uma proteína mitocondrial. A AF é caracterizada por coordenação prejudicada como resultado de déficits cerebelares e sensoriais. Alterações induzidas pela AF na fisiologia mitocondrial podem afetar o coração. A remodelação concêntrica do ventrículo esquerdo (VE) tem sido bem descrita nos pacientes, paralelamente à diminuição do volume diastólico e da fração de ejeção do ventrículo esquerdo (FEVE) progressivamente. Eventos cardíacos foram considerados a principal causa de mortalidade em ∼60% dos pacientes com AF ­ evolução para morte com <40 anos. Conforme descrito no estudo CARFA, 50% dos pacientes tinham padrão de realce miocárdico transmural/ subepicárdico da parede lateral e aumento de troponina relacionados ao aumento da espessura miocárdica. O paciente do caso com provável miocardite na RMC 2021, mantendo-se com altos níveis de troponina basal anos após os eventos gripais, com diversas alterações estruturais do VE prévias e realces com características possíveis para doenças sobrepostas. CONCLUSÃO: O caso clínico tem como objetivo dar ênfase nas alterações cardíacas inerentes à rara AF, inclusive seu padrão de realce miocárdico e aumento da troponina basal para a consideração dos diagnósticos diferenciais, como neste caso de quadro de injúria miocárdica aguda com RT presente na RMC.

Acompanhamento laboratorial e funcional em paciente com miocardite crônica pós- COVID-19: um relato de caso / Laboratory and functional monitoring in a patient with chronic post-COVID-19 myocarditis: a case report

INTRODUÇÃO: A miocardite é uma doença inflamatória do miocárdio que pode ser causada por diversos agentes, incluindo a COVID-19, na fase crônica, o paciente pode apresentar o desenvolvimento da miocardiopatia dilatada (MD). Apresentamos um caso de um paciente com MD pós COVID-19. CASO: Paciente do sexo masculino, 45 anos, obeso, diagnosticado com tireoidite de Hashimoto, faz uso de levotiroxina 200mg e aspirina 100mg, com histórico de doença coronariana familiar precoce. Foi encaminhado para a emergência após consulta para investigação de dispneia aos esforços pós-infecção da SARS-CoV-2 há 2 meses, na qual evidenciou através da tomografia computadorizada com achados sugestivos de COVID-19 e cardiomegalia com derrame pericárdico. O paciente foi internado para investigação do quadro, os exames laboratoriais demonstraram hormônios tireoidianos dentro da faixa de normalidade, peptídeo natriurético cerebral (BNP) de 11.800 pg/mL e troponina de 573 ng/mL. Foi realizado um ecocardiograma que revelou uma fração de ejeção (FE) de 19%, dilatação moderada e déficit contrátil em ventrículo esquerdo (VE), dilatação biatrial importante, ventrículo direito dilatado, função sistólica reduzida e pericárdio espessado com derrame discreto. Durante o internamento, não apresentou intercorrências, e fez uso de: nitroglicerina, betabloqueador e diurético. Na angioressonância magnética do coração (angio-RM), foram evidenciados achados que fortaleceram a hipótese clínica de miocardite prévia, descartando etiologia isquêmica, com uma FE de 12%. Após 8 dias no hospital, o paciente recebeu alta. Três meses após, o paciente retornou para consulta sem dispnéia, em uso de losartana, dapagliflozina, furosemida, espironolactona, bisoprolol, ivabradina, rosuvastatina e levotiroxina, trazendo uma angio-RM com FE de 47,6% e BNP em queda, de 1018 pg/mL. CONCLUSÃO: Os exames laboratoriais como a elevação de troponina e BNP foram observadas em casos de miocardite por Covid-19 e no caso, esses, estiveram correlacionados aos achados funcionais cardíacos, como FE. O significado da correlação é incerto, mas pode oferecer dados para diagnóstico e acompanhamento da MD pós COVID-19 no futuro.

Diagnóstico de variantes de Miocardiopatia Primária (MP) DSP E MYH7 em paciente jovem pós-parada cardíaca: relato de caso / Diagnosis of variants of Primary Cardiomyopathy (PM) DSP and MYH7 in a young post-cardiac arrest patient: case report

INTRODUÇÃO: A identificação precoce de um portador de MP através de teste genético revela etiologias com maior potencial arritmogênico ou de pior prognóstico, sendo possível instituir medidas para retardar a progressão da doença e evitar um desfecho súbito maligno. Apresentamos um caso de uma paciente portadora de variantes genéticas pós parada cardíaca. CASO: Paciente do sexo feminino, 27 anos, apresentou episódio de tontura e síncope enquanto jogava vôlei, apresentando movimentos tônico-clônicos, cianose perioral, perda esfincteriana e mordedura de língua. Ao chegar na emergência, foi realizado exame neurológico e tomografia computadorizada de crânio, ambos sem alterações. Durante o seu internamento foi realizado um ecocardiograma que revelou uma insuficiência cardíaca com ventrículo esquerdo (VE) e átrio esquerdo aumentados com uma fração de ejeção de 33% e uma disfunção sistólica do tipo 1. Realizada uma angioressonância magnética do coração que teve como resultado uma disfunção sistólica com fração de ejeção de 22%, com alteração da contratilidade segmentar e discreta dilatação do VE, além de uma fibrose miocárdica extensa não isquêmica com predomínio na parede anterior, lateral e posterior (ring-like). Também foi realizado um holter que evidenciou uma atividade ectópica ventricular de 1313 extra-sístoles isoladas e 19 pares. A paciente foi submetida a implante de cardiodesfibrilador implantável subcutâneo, sem intercorrências. Além disso, foi prosseguida avaliação genética para cardiomiopatia hereditária, através de um painel genético, que evidenciou a presença de duas variantes de significado incerto em heterozigose nos genes DSP e MYH7, relacionadas a cardiomiopatias e arritmias, além disso havia antecedente de morte súbita durante atividade física aos 42 anos. CONCLUSÃO: A identificação de variantes genéticas em pacientes jovens deve ser pensada para aqueles com história familiar de morte súbita cardíaca em jovens ou eventos cardiovasculares nessa mesma faixa etária, a fim de permitir melhor prognóstico. O objetivo seria a prevenção de eventos súbitos, como também oferecer condutas clínicas e cirúrgicas mais precisas.

Post-COVID-19 cognitive symptoms in patients assisted by a teleassistance service: a retrospective cohort study.

Introduction: Four years after the onset of the COVID-19 pandemic, the frequency of long-term post-COVID-19 cognitive symptoms is a matter of concern given the impact it may have on the work and quality of life of affected people. Objective: To evaluate the incidence of post-acute COVID-19 cognitive symptoms, as well as the associated risk factors. Methods: Retrospective cohort, including outpatients with laboratory-confirmed COVID-19 and who were assisted by a public telehealth service provided by the Telehealth Network of Minas Gerais (TNMG), during the acute phase of the disease, between December/2020 and March/2022. Data were collected through a structured questionnaire, applied via phone calls, regarding the persistence of COVID-19 symptoms after 12 weeks of the disease. Cognitive symptoms were defined as any of the following: memory loss, problems concentrating, word finding difficulties, and difficulty thinking clearly. Results: From 630 patients who responded to the questionnaire, 23.7% presented cognitive symptoms at 12 weeks after infection. These patients had a higher median age (33 [IQR 25-46] vs. 30 [IQR 24-42] years-old, p = 0.042) with a higher prevalence in the female sex (80.5% vs. 62.2%, p < 0.001) when compared to those who did not present cognitive symptoms, as well as a lower prevalence of smoking (8.7% vs. 16.2%, p = 0.024). Furthermore, patients with persistent cognitive symptoms were more likely to have been infected during the second wave of COVID-19 rather than the third (31.0% vs. 21.3%, p = 0.014). Patients who needed to seek in-person care during the acute phase of the disease were more likely to report post-acute cognitive symptoms (21.5% vs. 9.3%, p < 0,001). In multivariate logistic regression analysis, cognitive symptoms were associated with female sex (OR 2.24, CI 95% 1.41-3.57), fatigue (OR 2.33, CI 95% 1.19-4.56), depression (OR 5.37, CI 95% 2.19-13.15) and the need for seek in-person care during acute COVID-19 (OR 2.23, CI 95% 1.30-3.81). Conclusion: In this retrospective cohort of patients with mostly mild COVID-19, cognitive symptoms were present in 23.7% of patients with COVID-19 at 12 weeks after infection. Female sex, fatigue, depression and the need to seek in-person care during acute COVID-19 were the risk factors independently associated with this condition.

Motion Analysis of the Mug Transportation Task Through Upper Limb Kinematics.

The task of transporting objects is a fundamental part of daily living activities. Previous kinematic studies focusing on tasks such as pointing, reach-to-grasp, and drinking have not fully captured the motor behaviors involved in object transportation, including placing a cup on a table or storing items in specific places. Hence, this study aimed to analyze the motor behavior associated with transporting a mug using upper limb kinematic variables. Fifteen healthy adults were instructed to transport an open-handle mug across a table. The kinematic metrics evaluated included object end-error for accuracy, frontal and lateral end-range for precision, movement time, peak velocity, time to peak velocity for control strategy, object path ratio for efficiency, and interjoint coordination. The stability of motor behavior was assessed through a test-retest analysis. The mug transporting task achieved accuracy with a radius <10 mm around the target, a peak velocity of ∼0.4 m/s, a control strategy where acceleration time constituted about 30% of the movement time, and a slightly curved trajectory. The test-retest analysis confirmed stable motor behavior across all kinematic metrics (ICCs > 0.75). Thus, the mug transporting task exhibited unique and stable kinematic characteristics, distinguishing it from non-transport activities and effectively mirroring transporting activities of daily living.

Fear of falling and common symptoms of multiple sclerosis: Physical function, cognition, fatigue, depression, and sleep - A systematic review.

BACKGROUND: Fear of falling (FOF) is a common concern among persons with multiple sclerosis (MS) and affects the performance of their daily living activities. Falls may result in FOF, leading to worsening of symptoms of MS, physical deconditioning, and exposure to future falls. This may trigger a vicious cycle between FOF and falls. A better understanding of the relationship between FOF and symptoms of MS may be helpful to develop a conceptual model to guide fall prevention interventions. OBJECTIVE: To synthesize the correlational and predictive relationships between FOF and common symptoms of MS. METHODS: Databases including PubMed, Embase, Web of Science, Scopus, CINHAL, PsycINFO, and SPORTDiscuss were searched from inception to October 2023. Studies examining correlations and/or predictions between FOF and common MS symptoms that include measures of gait, postural control, fatigue, cognition, pain, sleep, depression, and anxiety were identified by two independent reviewers. Both reviewers also conducted the methodological quality assessment of the included studies. RESULTS: Twenty-three studies with a total of 2819 participants were included in the review. Correlational findings indicated that increased FOF was significantly associated with greater walking deficits (lower gait speed, smaller steps), reduced mobility, and poorer balance. Increased FOF was also significantly correlated with higher cognitive impairments, more fatigue, sleep disturbances, and depression. Decreased gait parameters, reduced balance, lower physical functions, cognitive impairments, and sleep deficits were found as significant predictors of increased FOF. CONCLUSION: Evidence indicates significant correlational and bidirectional predictive relationships exist between FOF and common MS symptoms. A comprehensive conceptual framework accounting for the interaction between FOF and MS symptoms is needed to develop effective falls prevention strategies.

Catarata congênita nas infecções intrauterinas mais comuns (STORCH): revisão de literatura / Congenital cataract in the most common intrauterine infections (STORCH): a review of the literature

RESUMO Objetivo: O objetivo deste estudo foi revisar os aspectos clínicos e patológicos da catarata congênita secundária às infecções por sífilis, toxoplasmose, rubéola, citomegalovírus e herpes simples. Métodos: Trata-se de uma revisão de literatura, na qual foram incluídos artigos de periódicos indexados às bases de dados PubMed®, Cochrane, Lilacs, Embase e SciELO de 2010 a 2023. Resultados: Foram encontrados 45 artigos, e, após seleção, restaram 9 artigos. Além disso, foram adicionados artigos para enriquecer a discussão. A infecção por sífilis está relacionada a alterações corneanas. O citomegalovírus e a toxoplasmose estão relacionados com a coriorretinite e/ou microftalmia. A rubéola é responsável por causar catarata, glaucoma, microftalmia e retinite em sal e pimenta. Conclusão: Foram abordadas as principais etiologias infecciosas e seu quadro clínico na CC. O melhor tratamento para CC é cirúrgico associado a acompanhamento clínico, mas a prevenção é a maneira mais eficaz de combater a CC de etiologia infecciosa. O diagnóstico precoce e o tratamento efetivo previnem alterações e sequelas visuais irreversíveis. Nesse contexto, mostram-se importantes as ações de políticas públicas para o melhor desfecho clínico e melhor qualidade de vida.

ABSTRACT Objective: To review the clinical and pathological aspects of CC secondary to infections by syphilis, toxoplasmosis, rubella, cytomegalovirus, herpes simplex. Methods: This is a literature review. Articles from journals indexed to PubMed, COCHRANE, LILACS, EMBASE and SCIELO from 2010 to 2023 were included. Results: A total of 45 articles were found, which, after selection, remained in 9 articles. Some articles were included to enrich the discussion in this topic. The infection caused by syphilis is related to corneal changes. Cytomegalovirus and Toxoplasmosis due to chorioretinitis and/or microphthalmia. Rubella is responsible for causing cataracts, glaucoma, microphthalmia, and salt and pepper retinitis. Conclusion: The main infectious etiologies and their clinical status in CC were addressed. The best treatment for CC is surgery associated with clinical follow-up, but prevention is the most effective way to combat CC of infectious etiology. Early diagnosis and effective treatment prevent irreversible visual changes and sequelae. In this context, public policy actions are important for the best clinical outcome and better quality of life.

Effects of face mask on pulse rate and blood oxygenation.

OBJECTIVE: The World Health Organization and Centers for Disease Control and Prevention recommend the use of face masks in public. This study aimed to evaluate the effects of face masks on pulse rate and partial blood oxygen saturation in patients without cardiorespiratory disorders. METHODS: A total of 150 volunteers of both sexes were divided into three groups (n=50) according to age (children, young adults, and older adults). The partial blood oxygen saturation and pulse rate were measured for each volunteer using a digital oximeter while wearing a facial mask and remaining at rest. The masks were removed for two minutes, and partial blood oxygen saturation and pulse rate were remeasured. The materials and types of masks used were recorded. The t -test for paired samples was used to compare the mean values obtained before and after removing the masks. RESULTS: The most frequently used mask was a two-layered cloth (64.7%). A decrease in pulse rate was observed after removing the face mask in males, particularly in children (p=0.006) and young adults (p=0.034). Partial blood oxygen saturation levels increased in young adult males after mask removal (p=0.01). CONCLUSION: The two-layer cotton tissue face masks are associated with a higher pulse rate and reduced arterial blood oxygen saturation without associated clinical disorders, mainly in adult men with a lower tolerance to breathing and ear discomfort.

Cut-off score of the modified Ashworth scale corresponding to walking ability and functional mobility in individuals with chronic stroke.

PURPOSE: To determine the optimal cut-off score for the Modified Ashworth Scale (MAS) corresponding to unfavorable outcomes for mobility and walking ability. METHODS: The level of plantar flexor muscle spasticity and the 10-meter walking test (10mWT), timed up and go (TUG), and five time sit-to-stand (FTSTS) outcomes were evaluated in individuals after stroke. The correlation between MAS and the tests was investigated, and the optimal cut-off score, sensitivity, and specificity were evaluated through receiver operating characteristic (ROC) curve. RESULTS: Twenty-one participants with chronic stroke and plantar flexors spasticity (11 men; 10 women; mean age = 57.6 ± 12.5 years) participated in the study. Significant correlations between MAS and 10mWT (r= -0.45; p < 0.05), MAS and TUG (r = 0.48; p < 0.05) were found. The optimal cut-off scores were MAS > 2 for unfavorable 10mWT (sensitivity = 100%; specificity = 54.5%; ROC = 0.782) and MAS ≤ 2 for favorable TUG outcomes (sensitivity = 55.5%; specificity = 91.6%; ROC = 0.782). CONCLUSIONS: This study revealed that moderate level of plantar flexors spasticity results in the highest sensitivity to predict poor gait speed performance and the highest specificity to predict good mobility performance in individuals after stroke. These findings will help clinicians in their evidence-based decision making on the role of spasticity for mobility and walking ability.Implications for rehabilitationModerate level of spasticity (MAS <2) is the optimal cut-off score for 10mWT and TUG tests.Reducing the level of spasticity of plantar flexors below this cut-off point might be associated with an increased walking speed in this population.MAS <2 might not limit walking and mobility in individuals after stroke.Calf muscles spasticity might not compromise five time sit-to-stand (FTSTS) performances and might be related to a smaller influence on the sit to stand task.

Effects of face mask on pulse rate and blood oxygenation

ABSTRACT Objective The World Health Organization and Centers for Disease Control and Prevention recommend the use of face masks in public. This study aimed to evaluate the effects of face masks on pulse rate and partial blood oxygen saturation in patients without cardiorespiratory disorders. Methods A total of 150 volunteers of both sexes were divided into three groups (n=50) according to age (children, young adults, and older adults). The partial blood oxygen saturation and pulse rate were measured for each volunteer using a digital oximeter while wearing a facial mask and remaining at rest. The masks were removed for two minutes, and partial blood oxygen saturation and pulse rate were remeasured. The materials and types of masks used were recorded. The t -test for paired samples was used to compare the mean values obtained before and after removing the masks. Results The most frequently used mask was a two-layered cloth (64.7%). A decrease in pulse rate was observed after removing the face mask in males, particularly in children (p=0.006) and young adults (p=0.034). Partial blood oxygen saturation levels increased in young adult males after mask removal (p=0.01). Conclusion The two-layer cotton tissue face masks are associated with a higher pulse rate and reduced arterial blood oxygen saturation without associated clinical disorders, mainly in adult men with a lower tolerance to breathing and ear discomfort.

Alcohol consumption by medical students.

OBJECTIVE Excessive alcohol consumption is a global health issue. This article aims to evaluate the consumption of alcohol by medical students in relation to their personal and social aspects. METHODS This study was conducted with students in the first, third, and sixth year of medical school at the Federal University of Minas Gerais in 2019. Students were invited to participate anonymously by responding to a questionnaire with 15 questions regarding student characteristics (gender, age, family income, physical activity, origin, housing condition, and academic performance) and alcohol consumption (onset, reason, occasions of use, type of drink, amount consumed). Data were compared with significance corresponding to p<0.05. RESULTS A sample of 382 students of both sexes responded to the questionnaire. Alcohol consumption was reported by 85% of students. About 70% of first and third-year students and 47% of those of the sixth year were motivated by socializing with peers. Alcohol consumption was prevalent among those who practice physical activities (93%) and live with their families (89%). Around 80% had consumed alcohol before starting medical school, and consumption was more frequent in males. CONCLUSIONS Alcohol consumption begins during high school, stimulated by socialization. Men who practice physical activities and live with their families are the largest consumers.

Alcohol consumption by medical students

SUMMARY OBJECTIVE Excessive alcohol consumption is a global health issue. This article aims to evaluate the consumption of alcohol by medical students in relation to their personal and social aspects. METHODS This study was conducted with students in the first, third, and sixth year of medical school at the Federal University of Minas Gerais in 2019. Students were invited to participate anonymously by responding to a questionnaire with 15 questions regarding student characteristics (gender, age, family income, physical activity, origin, housing condition, and academic performance) and alcohol consumption (onset, reason, occasions of use, type of drink, amount consumed). Data were compared with significance corresponding to p<0.05. RESULTS A sample of 382 students of both sexes responded to the questionnaire. Alcohol consumption was reported by 85% of students. About 70% of first and third-year students and 47% of those of the sixth year were motivated by socializing with peers. Alcohol consumption was prevalent among those who practice physical activities (93%) and live with their families (89%). Around 80% had consumed alcohol before starting medical school, and consumption was more frequent in males. CONCLUSIONS Alcohol consumption begins during high school, stimulated by socialization. Men who practice physical activities and live with their families are the largest consumers.

RESUMO OBJETIVO O consumo excessivo de álcool é um problema de saúde presente no mundo inteiro. Este artigo avalia o consumo de bebidas alcoólicas por estudantes de Medicina e sua relação com características pessoais e aspectos sociais. MÉTODOS Estudo realizado com estudantes dos 1o, 3o e 6o anos do curso de medicina da Universidade Federal de Minas Gerais no ano de 2019. Os alunos foram convidados a participar anonimamente, respondendo a um questionário com 15 perguntas relativas a características do estudante (sexo, idade, renda familiar, prática de atividades físicas, origem, condição de moradia e desempenho discente) e ao consumo de bebidas alcoólicas (início, motivo, ocasiões de uso, tipo de bebida, quantidade consumida). Os dados foram comparados com significância correspondente a p<0,05. RESULTADOS Um total de 382 estudantes de ambos os sexos respondeu ao questionário. O consumo de bebidas alcoólicas foi relatado por 85% dos entrevistados. Cerca de 70% dos alunos de 1o e 3o anos e 47% dos alunos do 6o ano foram motivados pela socialização com colegas. O consumo de bebida alcoólica foi prevalente entre os que praticavam atividades físicas (93%) e moravam com a família (89%). Ao redor de 80% consumiram bebidas alcoólicas antes do ingresso na faculdade, com maior frequência no sexo masculino. CONCLUSÕES O consumo de álcool começa durante o ensino médio, estimulado pela socialização. Os homens que praticam atividades físicas e moram com a família são os maiores consumidores.

Impaired mechanical properties of Achilles tendon in spastic stroke survivors: an observational study.

BACKGROUND: The spasticity could lead to decreased functional capacity and changes in musculoskeletal tissue. OBJECTIVE: To compare the Achilles tendon properties between the affected and contralateral limbs of participants with spasticity due to stroke and the healthy subjects. METHODS: Fifteen individuals with ankle spasticity due to stroke and 15 healthy subjects were recruited. Maximal isometric ankle joint torque was obtained with an isokinetic dynamometer, and an ultrasound was used to determine tendon length, tendon cross-sectional area, and the medial gastrocnemius myotendinous junction displacement. The Achilles tendon strength, displacement, stress, strain, stiffness, and Young's modulus were obtained during a maximum voluntary isometric plantarflexion contraction. RESULTS: There were no differences between Achilles tendon length among participants. Both limbs of participants with stroke showed reduced tendon cross-sectional area (~18%) compared to healthy limb. The affected limb showed decreased tendon strength (686 ± 293.3 N), displacement (10.6 ± 1.7 mm), Young's modulus values (849 ± 235.6 MPa), and lower stiffness (196.6 ± 67.6 N/mm) compared to the contralateral limb (strength, 1357.1 ± 294.8 N; displacement, 15.2 ± 5.5 mm; Young's modulus, 1431.8 ± 301.9 MPa; stiffness, 337.5 ± 98.1 N/mm) and to the healthy limb. The contralateral limb also showed decreased tendon strength (~26.2%) and stiffness (~21.5%) compared to the healthy group. CONCLUSION: There is a decrement in Achilles tendon morphological and mechanical properties of the affected limb in individuals with spasticity due to stroke. The contralateral limb had a thinner tendon more compliant likely to physical activity reduction.

Genotype-phenotype correlation in type 1 neurofibromatosis: pMet992del mutation and milder disease.

A few genotype-phenotype correlations have been described in type 1 neurofibromatosis. One deletion, p.Met992del, seems to be responsible for a mild form of the condition, in which there is absence of externally visible neurofibromas. We report a mother and a son with this mutation.

Muscle architecture and torque production in stroke survivors: an observational study.

OBJECTIVE: Spasticity poststroke leads to muscle weakness and soft tissue contracture, however, it is not clear how muscle properties change due this motor neural disorder. The purpose was to compare medial gastrocnemius muscle architecture and mechanical properties of the plantarflexor muscles between stroke survivors with spasticity and healthy subjects. METHODS: The study included 15 stroke survivors with ankle spasticity and 15 healthy subjects. An isokinetic dynamometer was used for the evaluation of maximal isometric plantarflexor torque and images of the medial gastrocnemius muscle were obtained using ultrasonography. Images were collected at rest and during a maximum voluntary contraction. RESULTS: The affected limb showed reduced fascicle excursion (0.9 ± 0.7 cm), shorter fascicle length, and reduced muscle thickness (0.095 ± 0.010% of leg length and 1.18 ± 0.20 cm, at rest) compared to contralateral (1.6 ± 0.4 cm, 0.106 ± 0.015% of leg length and 1.29 ± 0.24 cm, respectively) and to healthy participants (1.8 ± 0.7 cm, 0.121 ± 0.019% of leg length and 1.43 ± 0.22 cm, respectively). The contralateral limb showed lower force (between 32 and 40%) and similar architecture parameters compared to healthy participants. CONCLUSION: The affected limb had a different muscle architecture that appears to result in lower force production. The contralateral limb showed a decrease in force compared to healthy participants due to the other neural impairments than muscle morphology. Spasticity likely leds to adaptations of muscle architecture in the affected limb and in force reductions in both limbs of stroke survivors.

Achilles tendon morphology, plantar flexors torque and passive ankle stiffness in spastic hemiparetic stroke survivors.

BACKGROUND: The present study compared the Achilles tendon morphological characteristics, plantar flexor toque and passive ankle stiffness between hemiparetic spastic stroke survivors and healthy subjects. METHODS: The Achilles tendon length was measured at the affected and contralateral limbs of twelve hemiparetic stroke survivors with ankle spasticity and twelve healthy subjects. The ankle was held at three different angles (20° plantar flexion, 0° and maximum dorsiflexion) while an ultrasound system was used to capture images from the Achilles tendon. Active and passive plantar flexor torque production was measured using an isokinetic dynamometer. FINDINGS: There was no significant difference in tendon length and Achilles tendon complacency between stroke survivors [affected limb: 20.8 (1.59) cm at 0° and 0.11 (0.09) cm/N; contralateral limb: 20.8 (1.7) cm at 0° and 0.12 (0.08) cm/N] and healthy subjects [20 (2.78) cm at 0° and 0.15 (0.1) cm/N]. The contralateral limb was stronger than the affected limb, while healthy participants presented larger active torque in relation to stroke survivors. There was no significant difference in passive ankle stiffness between the affected [0.43 (0.08) N/°] and the contralateral limb [0.40 (0.11) N/°], but affected limb was significantly stiffer than the healthy subjects [0.32 (0.07) N/°]. INTERPRETATION: The larger passive torque and ankle joint stiffness from stroke survivors with similar Achilles tendon length compared to healthy subjects seem to be unrelated to tendon extensibility.

Identification of the MYST3-CREBBP fusion gene in infants with acute myeloid leukemia and hemophagocytosis

ABSTRACT Background: Acute myeloid leukemia presenting the MYST3-CREBBP fusion gene is a rare subgroup associated with hemophagocytosis in early infancy and monocytic differentiation. The aim of this study was to define the relevant molecular cytogenetic characteristics of a unique series of early infancy acute myeloid leukemia cases (≤24 months old), based on the presence of hemophagocytosis by blast cells at diagnosis. Methods: A series of 266 infant cases of acute myeloid leukemia was the reference cohort for the present analysis. Acute myeloid leukemia cases with hemophagocytosis by blast cells were reviewed to investigate the presence of the MYST3-CREBBP fusion gene by fluorescence in situ hybridization (FISH) and reverse transcription polymerase chain reaction. Results: Eleven cases with hemophagocytosis were identified with hemophagocytic lymphohistiocytosis being ruled out. Six cases were classified as myelomonocytic leukemia, three as AML-M7 and two as AML-M2. In five cases, the presence of the MYST3-CREBBP fusion gene identified by molecular cytogenetics was confirmed by fluorescence in situ hybridization. All patients received treatment according to the Berlin-Frankfürt-Münster acute myeloid leukemia protocols and only one out of the five patients with the MYST3-CREBBP fusion gene is still alive. Conclusions: Our findings demonstrate that the presence of hemophagocytosis in acute myeloid leukemia was not exclusively associated to the MYST3-CREBBP fusion gene. Improvements in molecular cytogenetics may help to elucidate more complex chromosomal rearrangements in infants with acute myeloid leukemia and hemophagocytosis.

Identification of the MYST3-CREBBP fusion gene in infants with acute myeloid leukemia and hemophagocytosis.

BACKGROUND: Acute myeloid leukemia presenting the MYST3-CREBBP fusion gene is a rare subgroup associated with hemophagocytosis in early infancy and monocytic differentiation. The aim of this study was to define the relevant molecular cytogenetic characteristics of a unique series of early infancy acute myeloid leukemia cases (≤24months old), based on the presence of hemophagocytosis by blast cells at diagnosis. METHODS: A series of 266 infant cases of acute myeloid leukemia was the reference cohort for the present analysis. Acute myeloid leukemia cases with hemophagocytosis by blast cells were reviewed to investigate the presence of the MYST3-CREBBP fusion gene by fluorescence in situ hybridization (FISH) and reverse transcription polymerase chain reaction. RESULTS: Eleven cases with hemophagocytosis were identified with hemophagocytic lymphohistiocytosis being ruled out. Six cases were classified as myelomonocytic leukemia, three as AML-M7 and two as AML-M2. In five cases, the presence of the MYST3-CREBBP fusion gene identified by molecular cytogenetics was confirmed by fluorescence in situ hybridization. All patients received treatment according to the Berlin-Frankfürt-Münster acute myeloid leukemia protocols and only one out of the five patients with the MYST3-CREBBP fusion gene is still alive. CONCLUSIONS: Our findings demonstrate that the presence of hemophagocytosis in acute myeloid leukemia was not exclusively associated to the MYST3-CREBBP fusion gene. Improvements in molecular cytogenetics may help to elucidate more complex chromosomal rearrangements in infants with acute myeloid leukemia and hemophagocytosis.

Effects of cryotherapy methods on circulatory, metabolic, inflammatory and neural properties: a systematic review / Efeitos dos métodos de crioterapia sobre propriedades circulatórias, metabólicas, inflamatórias e neurais: uma revisão sistemática

Abstract Introduction: The cooling therapy (cryotherapy) is commonly used in clinical environmental for the injuries treatment according to its beneficial effects on pain, local inflammation and the recovery time of patients. However, there is no consensus in the literature about the effects of cryotherapy in the physiological reactions of affected tissues after an injury. Objective: To realize a systematic review to analyze the cryotherapy effects on circulatory, metabolic, inflammatory and neural parameters. Materials and methods: A search was performed in PubMed, SciELO, PEDro and Scopus databases following the eligibility criteria. Included studies were methodologically assessed by PEDro scale. Results: 13 original studies were selected and presented high methodological quality. Discussion: The cryotherapy promotes a significant decrease in blood flow, in venous capillary pressure, oxygen saturation and hemoglobin (only for superficial tissues) and nerve conduction velocity. However, the effect of cryotherapy on the concentration of inflammatory substances induced by exercise, as the creatine kinase enzyme and myoglobin, remains unclear. Conclusion: The physiological reactions to the cryotherapy application are favorable to the use of this therapeutic tool in inflammatory treatment and pain decrease, and demonstrate its importance in the neuromuscular system injuries rehabilitation.

Resumo Introdução: A terapia por meio do frio (crioterapia) é comumente utilizada no meio clínico para o tratamento de lesões em função de seus efeitos benéficos sobre a dor, a inflamação local e o tempo de recuperação dos pacientes. No entanto, não existe um consenso na literatura acerca dos efeitos da crioterapia nas reações fisiológicas de tecidos comprometidos após uma lesão. Objetivo: Realizar uma revisão para analisar os efeitos da aplicação de crioterapia sobre parâmetros circulatórios, metabólicos, inflamatórios e neurais. Materiais e métodos: Foi realizada uma revisão sistemática com busca nas bases de dados Pubmed, Scielo, PEDro e Scopus segundo os critérios de elegibilidade. Os estudos selecionados foram avaliados metodologicamente pela escala PEDro. Resultados: 13 estudos originais foram selecionados e que apresentaram alta qualidade metodológica. Discussão: A crioterapia promove uma significativa redução do fluxo sanguíneo, da pressão nos capilares venosos, da saturação de oxigênio e hemoglobina (apenas em tecidos superficiais)e da velocidade de condução neural. Contudo, o efeito do resfriamento tecidual sobre a concentração de substâncias inflamatórias induzidas pelo exercício, como a enzima creatina quinase e a mioglobina, permanece incerto. Conclusão: As respostas fisiológicas à aplicação da crioterapia são favoráveis ao uso desse recurso terapêutico no tratamento de processos inflamatórios e minimização de quadros álgicos, e demonstra sua importância na reabilitação de lesões do sistema neuromuscular.

Chlamydia psittaci em araras-canindé (Ara ararauna) cativas em um Centro de Triagem de Animais Silvestres no Brasil

Chlamydia psittaci infection stands out due to its zoonotic potential. It was detected in several orders, being Psittaciformes its main reservoir. Our objective was to investigate the occurrence of C. psittaci infection by clinical and environmental examination, as well as agent detection by Polymerase Chain Reaction (PCR) from choanal and cloacal swabs in 46 blue-and-gold macaws (Ara ararauna) allocated at the Triage Center of Wild Animals, Brazilian Institute of Environment and Renewable Natural Resources, Rio de Janeiro state, Brazil. The frequency of positive detection of the bacteria found was 50% (23/46) by cloacal swab. In this percentual, 26.09% (12/23) were also positive by choanal swab, being the probability of detection 2.83 times higher for cloacal swabs when compared to choanal ones (p 0.05). There was no association between body condition, temperature variations and PCR positivity for C. psittaci, being 34.78% of positive individuals asymptomatic to this disease. Therefore, our findings show agents dispersion at the squad and high frequency of asymptomatic birds. Considering the possibility of contagion to workers and free living birds, the quarantine in wildlife conservation and support centers, as well as the care with hygiene and individual protection for humans who deal with the animals, should be strictly followed even in the absence of clinical signs.