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.

Effect of low-level laser therapy on muscle adaptation to knee extensor eccentric training.

PURPOSE: Eccentric training has been popularized for physical conditioning and prevention/rehabilitation of musculoskeletal disorders, especially due to the expressive responses in terms of muscular strength gain. In view of evidence that low-level laser therapy (LLLT) is able to increase exercise performance and accelerate post-exercise recovery, the aim of this study was to verify the effect of LLLT on hypertrophy and strengthening of knee extensor muscles submitted to eccentric training. METHOD: Thirty healthy male subjects were randomized into three groups: Control Group (CG), Training Group (TG) and Training + LLLT Group (TLG). CG received no intervention, while TG and TLG were engaged on an 8-week knee extensor isokinetic eccentric training program. Only subjects from TLG were treated with LLLT (wavelength = 810 nm; power output = 200 mW; total dosage = 240 J) before each training session. Knee extensor muscle thickness and peak torque were assessed through ultrasonography and isokinetic dynamometry, respectively. RESULTS: CG presented no changes in any variable throughout the study, while eccentric training led to significant increases in muscle thickness and peak torque in TG and TLG. Subjects from TLG reached significantly higher percent changes compared to subjects from TG for sum of muscles' thicknesses (15.4 vs. 9.4%), isometric peak torque (20.5 vs. 13.7%), and eccentric peak torque (32.2 vs. 20.0%). CONCLUSION: LLLT applied before eccentric training sessions seems to improve the hypertrophic response and muscular strength gain in healthy subjects.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Hypoxia-related gene expression profile in childhood acute lymphoblastic leukemia: prognostic implications.

A cellular hypoxic condition is a key event in several human cancers, but knowledge about its role in childhood acute lymphoblastic leukemia (ALL) is very limited. In the present study, the gene expression profile of hypoxia-related genes (HIF1A, CA9, VEGF and SCL2A1) was evaluated in bone marrow samples of 113 pediatric patients. HIF1A mRNA up-regulation was significantly associated with higher 5-year event-free survival rates in patients with B-ALL as well as in the overall ALL population in both univariate and multivariate analysis (p = 0.023 and p = 0.041, respectively). In gene expression analysis, low oxygen levels promoted HIF1A activation in a time-dependent manner, in both ALL cell lines. In vitro cytotoxic assays suggested an initial trend toward hypoxia-related resistance in the first 24 h, but evaluation at later time points (48-72 h) clearly showed that there was no relevant difference in drug response when comparing hypoxic and normal oxygen level conditions. Modulation of mRNA expression of several hypoxia-related genes was also observed after hypoxic exposure in a cell specific manner, suggesting that HIF1A mRNA expression could play a different role in specific subtypes of leukemia. Despite the remaining questions regarding hypoxia-mediated mechanisms, these findings could be helpful to provide new insights into the role of hypoxia in childhood ALL.

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.

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.

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.

Rate of force development and torque production assessment in spastic stroke survivors / Avaliação da taxa de produção de força e torque em indivíduos com espasticidade pós-avc

Abstract The aim of this study was to compare the rate of force development (RFD) and maximum torque in spastic stroke survivors and healthy individuals. Fifteen stroke survivors (57.3 ± 11.2 years) with ankle spasticity and fifteen healthy individuals (59.3 ± 6.4 years) participated in this study. An isokinetic dynamometer was used to maximum voluntary isometric contraction (MVC) and RFD assessment of plantar flexors muscles of ankle, which the individuals were instructed to produce maximum torque as fast as possible. The absolute RFD was normalized by MVC (relative RFD). In results were observed significant differences in RFD of affected limb (43.3 ± 8.5 Nm/s) and unaffected limb (98.9 ± 20.4 Nm/s) compared to healthy (186.2 ± 25.2 Nm/s), but with no differences between affected and unaffected limbs (p=0.15). In relation to relative RFD, the affected limb (9.76 ± 1.1 %MVC/s) was significant different than healthy (13.08 ± 1.5 %MVC/s). The MVC produced by affected limb (46.55 ± 7.98 Nm) was significant lower than unaffected limb (84.29 ± 8.47 Nm) and, the two limbs of stroke survivors were weakness than healthy individuals (128.02 ± 9.36 Nm). Lastly, the spasticity level present higher negative correlation in relation to RFD (R= -0.725; p= 0.002) and MVC (R= -0.717; p=0.003). The spasticity promotes alterations in capacity to produce maximum force and fast force in affected and unaffected limbs of stroke survivors compared to healthy.

Resumo O objetivo desse estudo foi comparar a taxa de produção de força (TPF) e o torque máximo em indivíduos com espasticidade e saudáveis. Participaram do estudo 15 sujeitos pós-AVC (57,3 ± 11,2 anos) com espasticidade de tornozelo e 15 sujeitos saudáveis (59,0 ± 6,4 anos). Um dinamômetro isocinético foi utilizado para a avaliação da contração isométrica voluntária máxima (CVM) e da TPF dos flexores plantares do tornozelo, na qual os participantes foram instruídos a produzir força máxima o mais rápido possível. A TPF absoluta também foi normalizada pela CVM (TPF relativa). Como resultados, foram encontradas diferenças significativas na TPF absoluta do lado afetado (43,3 ± 8,5 Nm/s) e não afetado (98,9 ± 20,4 Nm/s) quando comparados com os saudáveis (186,2 ± 25,2 Nm/s), porém sem diferenças entre os membros espásticos (p=0,15). Em relação a TPF relativa, apenas o lado afetado (9,76 ± 1,1 %CVM/s) apresentou diferença em relação aos saudáveis (13,08 ± 1,5 %CVM/s). A CVM produzida pelo lado afetado (46,55 ± 7,98 Nm) foi significativamente menor quando comparado ao lado não afetado (84,29 ± 8,47 Nm) e, os dois lados foram mais fracos em comparação aos indivíduos saudáveis (128,02 ± 9,36 Nm). Por fim, o nível de espasticidade apresentou alta correlação negativa em relação a TPF (R= -0,725; p= 0,002) e a CVM (R= -0,717; p=0,003). A espasticidade gera alterações na capacidade de produzir força máxima e rápida tanto no membro afetado quanto no não afetado em indivíduos que tiveram AVC em relação a indivíduos saudáveis.