Proposal for a performance of physical therapy on the health of children and adolescents: a need in primary care

Objective: To develop a proposal for physical therapy in primary health aiming to systematize this service to child health and adolescent. Method: literature / research in Scielo, Lilacs and Medline. Results: the therapist not only restores, develops and retains the physical ability of the patient, also prevents diseases and promotes guidelines. Thus, we propose a performance based on three strategies: guidance, assistance and support. Conclusion: the physiotherapist in primary care can accomplish their integration into multidisciplinary team of basic health units in the matrix support programs and family health.Objetivo: elaborar uma proposta de assistência fisioterapêutica na rede básica de saúde objetivando sistematizar esse serviço para a saúde da criança e do adolescente. Método: revisão bibliográfica/pesquisa nas bases de dados Scielo, Lilacs e Medline. Resultados: o fisioterapeuta não apenas restaura, desenvolve e conserva a capacidade física do paciente, como também previne doenças e promove orientações. Assim, propõe-se sua atuação com base em três estratégias: orientação, assistência e acompanhamento. Conclusão: o fisioterapeuta na atenção primária pode efetivar sua integração na equipe multiprofissional das UBS, no apoio matricial e programas de saúde da família.12012

Mutational spectrum of cystinosis in Portugal, 1998-2017

Artigo original publicado em inglês: Ferreira F, Leal I, Sousa D, et al. CTNS Molecular Genetics Profile in a Portuguese Cystinosis Population. Open J Genet. 2018 Dec 18;8(4):91-100. doi:10.4236/ojgen.2018.84008A cistinose é uma doença metabólica multisistémica, autossómica recessiva caracterizada por uma acumulação de cistina em diferentes órgãos e tecidos devido a uma deficiência no transporte de cistina para o exterior dos lisossomas. O gene responsável pela doença, CTNS, está localizado no cromossoma 17 e codifica para uma proteína de membrana lisossomal, a cistinosina. Neste trabalho foram estudados doentes não relacionados provenientes das consultas de adultos e pediatria de diferentes hospitais de Portugal continental e ilhas, que apresentavam proteinuria não-nefrótica, hipercalciúria, hipocaliemia, hiperaminoacidúria, glicosúria e hipofosfatemia, sugestivo de síndroma de Fanconi e queixas oculares. Bioquimicamente, a cistina intraleucocitária foi quantificada, tendo-se igualmente efetuado a caracterização molecular do gene CTNS, inicialmente apenas direcionado para a pesquisa da deleção de 57-kb, seguida da sequenciação de todos os exões codificantes do gene CTNS. Desde 1998 a 2017, 21 doentes cistinóticos foram bioquimicamente caracterizados. Entretanto, 4 destes doentes faleceram e dos restantes 17, apenas 11 foram estudados para o gene CTNS. Verificouse que 5 destes 11 doentes foram homozigóticos para a deleção de 57-kb (10/22; 45,5%), e outros 5 foram compostos heterozigóticos para esta mutação (15/22; 68,2%). As outras mutações identificadas foram: p.Q128X (c.721 C>T; 2/22), p.S139F (c.755 C>T; 4/22) e c.18-21delGACT (p.T7FfsX7; 1/22). Todos estes 17 doentes cistinóticos estão em tratamento, sendo que 84% são adultos, 16% são crianças jovens e 54,5% são transplantados renais. Este estudo efetuado ao longo de vários anos, reflete a experiência no diagnóstico e monitorização dos doentes cistinóticos. Além disso, a caracterização das mutações encontradas no gene CTNS, ressalta a importância para um screening inicial da deleção de 57-kb e permite um futuro aconselhamento genético aos casais de risco.Cystinosis is a multisystemic autosomal recessive deficiency of the lysossomal membrane transporter protein (cystinosin) caused by mutations in CTNS gene. This study summarizes the Portuguese experience in the diagnosis and management of patients with this rare disease over the past few years and reports recurrent mutations in the CTNS gene. Unrelated patients from different pediatric and adult hospitals all over Portugal with non-nephrotic proteinuria, hypercalciuria, hypokalemia impaired proximal reabsorption of amino acids, glycosuria and hypophosphatemia, suggestive of a Fanconi syndrome and ocular problems were studied. Intraleukocyte cystine levels were determined and molecular analysis performed, to determine the presence of the 57-kb deletion in CTNS, followed by direct sequencing of the coding exons of CTNS. From 1998 to 2017, 21 cystinotic patients were biochemically diagnosed. From the remaining 17 (4 deceased), 11 were studied for CTNS gene. Five out of 11 patients were homozygous for the 57-kb deletion (10/22; 45.5%), and other 5 were compound heterozygous for this variant (15/22; 68.2%). The other mutations found were p.Q128X (c.721 C>T; 2/22), p.S139F (c.755 C>T; 4/22) and c.18-21delGACT (p.T7FfsX7; 1/22). All of these 17 cystinotic patients are in treatment. Approximately 84% are adults, 16% are young children, and 54.5% are kidney transplant recipient. The authors would like to emphasize the importance of first screening for the 57-kb deletion since it is very common in our population. This genetic study is the first in Portugal and it could be the basis for future genetic counseling in cistinotic patients.info:eu-repo/semantics/publishedVersio

CTNS Molecular Genetics Profile in a Portuguese Cystinosis Population

Background: Cystinosis is a multisystemic autosomal recessive deficiency of the lysosomal membrane transporter protein (cystinosin) caused by mutations in CTNS gene. Objective : This study summarizes the Portuguese experience in the diagnosis and management of patients with this rare disease over the past few years and reports recurrent mutations in the CTNS gene . Methods : Unrelated patients from different pediatric and adult hospitals all over Portugal with non-nephrotic proteinuria, hypercalciuria, hypokalemia impaired proximal reabsorption of amino acids, glycosuria and hypophosphatemia, suggestive of a Fanconi syndrome and ocular problems, were studied. Intra-leukocyte cystine levels were determined and molecular analysis was performed, to determine the presence or absence of the 57-kb deletion in CTNS , followed by direct sequencing of the coding exons of CTNS . Results : From 1998 to 2017, twenty-one cystinotic patients were biochemically diagnosed. From the remaining seventeen (four deceased), eleven were studied for CTNS gene. Five out of eleven patients were homozygous for the 57-kb deletion (10/22; 45.5%), and other five were compound heterozygous for this variant (15/22; 68.2%). The other mutations found were p.Q128X (c.721 C>T; 2/22), p.S139F (c.755 C>T; 4/22) and c.18-21delGACT (p.T7FfsX7; 1/22). All of these seventeen cystinotic patients are in treatment. Approximately 84% are adults, 16% are young children, and 54.5% are kidney transplant recipient. Conclusions: The authors would like to emphasize the importance of first screening for the 57-kb deletion since it is very common in our population. This genetic study is the first in our country and it could be the basis for future genetic counseling in Portuguese population.info:eu-repo/semantics/publishedVersio

Caracterização da produção endodôntica brasileira publicada entre 2011 e 2020 em dois periódicos de alto impacto: Characterization of Brazilian endodontic production published between 2011 and 2020 in two high-impact journals

O presente trabalho teve como objetivo tipificar os artigos brasileiros publicados no International Endodontic Journal (IEJ) e no Journal Of Endodontics (JOE) entre os anos de 2011 e 2020. Trata-se de uma revisão bibliométrica, onde foram incluídos artigos publicados entre 2011-2020 no IEJ e JOE. Após os critérios de inclusão e exclusão, 877 estudos foram selecionados para compor o presente estudo. A região Sudeste foi responsável pela maior parte da produção brasileira de alto impacto em endodontia (74,0%), com destaque para o estado de São Paulo (44,7%). As instituições públicas responderam por 648 publicações, com relevância para as universidades do estado de São Paulo (Universidade de São Paulo – USP, Estadual Paulista – Unesp e Estadual de Campinas – Unicamp). As três metodologias mais utilizadas pelos autores brasileiros foram pesquisa básica em tecnologia (47,3%), pesquisa básica em biologia (24,2%) e pesquisa clínica (18,5%), abordando com maior frequência temas sobre citologia/ histologia/ genética (22%), materiais endodônticos (17,8%) e técnicas endodônticas (16,0%). Quinhentos e doze pesquisas foram financiadas, com recursos advindo principalmente do Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) e da Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP). Os dados apresentados por esta pesquisa são suficientes para afirmar que as publicações brasileiras de alto impacto em endodontia entre os anos de 2011 e 2020 foram oriundas em sua maioria da região sudeste, de instituições públicas de ensino superior, notadamente USP, Unesp e Unicamp, caracterizadas como metodologia de básica em tecnologia e biologia, versando sobre Citologia/ Histologia/ Genética. Além disso, a maior parte das pesquisas foram conduzidos com auxílio financeiro, advindo principalmente do CNPq

Measurement of the cosmic ray spectrum above 4×10184{\times}10^{18} eV using inclined events detected with the Pierre Auger Observatory

A measurement of the cosmic-ray spectrum for energies exceeding $4{\times}10^{18}$ eV is presented, which is based on the analysis of showers with zenith angles greater than $60^{\circ}$ detected with the Pierre Auger Observatory between 1 January 2004 and 31 December 2013. The measured spectrum confirms a flux suppression at the highest energies. Above $5.3{\times}10^{18}$ eV, the "ankle", the flux can be described by a power law $E^{-\gamma}$ with index $\gamma=2.70 \pm 0.02 \,\text{(stat)} \pm 0.1\,\text{(sys)}$ followed by a smooth suppression region. For the energy ($E_\text{s}$) at which the spectral flux has fallen to one-half of its extrapolated value in the absence of suppression, we find $E_\text{s}=(5.12\pm0.25\,\text{(stat)}^{+1.0}_{-1.2}\,\text{(sys)}){\times}10^{19}$ eV.Comment: Replaced with published version. Added journal reference and DO

Energy Estimation of Cosmic Rays with the Engineering Radio Array of the Pierre Auger Observatory

The Auger Engineering Radio Array (AERA) is part of the Pierre Auger Observatory and is used to detect the radio emission of cosmic-ray air showers. These observations are compared to the data of the surface detector stations of the Observatory, which provide well-calibrated information on the cosmic-ray energies and arrival directions. The response of the radio stations in the 30 to 80 MHz regime has been thoroughly calibrated to enable the reconstruction of the incoming electric field. For the latter, the energy deposit per area is determined from the radio pulses at each observer position and is interpolated using a two-dimensional function that takes into account signal asymmetries due to interference between the geomagnetic and charge-excess emission components. The spatial integral over the signal distribution gives a direct measurement of the energy transferred from the primary cosmic ray into radio emission in the AERA frequency range. We measure 15.8 MeV of radiation energy for a 1 EeV air shower arriving perpendicularly to the geomagnetic field. This radiation energy -- corrected for geometrical effects -- is used as a cosmic-ray energy estimator. Performing an absolute energy calibration against the surface-detector information, we observe that this radio-energy estimator scales quadratically with the cosmic-ray energy as expected for coherent emission. We find an energy resolution of the radio reconstruction of 22% for the data set and 17% for a high-quality subset containing only events with at least five radio stations with signal.Comment: Replaced with published version. Added journal reference and DO

Measurement of the Radiation Energy in the Radio Signal of Extensive Air Showers as a Universal Estimator of Cosmic-Ray Energy

We measure the energy emitted by extensive air showers in the form of radio emission in the frequency range from 30 to 80 MHz. Exploiting the accurate energy scale of the Pierre Auger Observatory, we obtain a radiation energy of 15.8 \pm 0.7 (stat) \pm 6.7 (sys) MeV for cosmic rays with an energy of 1 EeV arriving perpendicularly to a geomagnetic field of 0.24 G, scaling quadratically with the cosmic-ray energy. A comparison with predictions from state-of-the-art first-principle calculations shows agreement with our measurement. The radiation energy provides direct access to the calorimetric energy in the electromagnetic cascade of extensive air showers. Comparison with our result thus allows the direct calibration of any cosmic-ray radio detector against the well-established energy scale of the Pierre Auger Observatory.Comment: Replaced with published version. Added journal reference and DOI. Supplemental material in the ancillary file

SARS-CoV-2 RNA detected in blood products from patients with COVID-19 is not associated with infectious virus

Background: Laboratory diagnosis of SARS-CoV-2 infection (the cause of COVID-19) uses PCR to detect viral RNA (vRNA) in respiratory samples. SARS-CoV-2 RNA has also been detected in other sample types, but there is limited understanding of the clinical or laboratory significance of its detection in blood. Methods: We undertook a systematic literature review to assimilate the evidence for the frequency of vRNA in blood, and to identify associated clinical characteristics. We performed RT-PCR in serum samples from a UK clinical cohort of acute and convalescent COVID-19 cases (n=212), together with convalescent plasma samples collected by NHS Blood and Transplant (NHSBT) (n=462 additional samples). To determine whether PCR-positive blood samples could pose an infection risk, we attempted virus isolation from a subset of RNA-positive samples. Results: We identified 28 relevant studies, reporting SARS-CoV-2 RNA in 0-76% of blood samples; pooled estimate 10% (95%CI 5-18%). Among serum samples from our clinical cohort, 27/212 (12.7%) had SARS-CoV-2 RNA detected by RT-PCR. RNA detection occurred in samples up to day 20 post symptom onset, and was associated with more severe disease (multivariable odds ratio 7.5). Across all samples collected ≥28 days post symptom onset, 0/494 (0%, 95%CI 0-0.7%) had vRNA detected. Among our PCR-positive samples, cycle threshold (ct) values were high (range 33.5-44.8), suggesting low vRNA copy numbers. PCR-positive sera inoculated into cell culture did not produce any cytopathic effect or yield an increase in detectable SARS-CoV-2 RNA. Conclusions: vRNA was detectable at low viral loads in a minority of serum samples collected in acute infection, but was not associated with infectious SARS-CoV-2 (within the limitations of the assays used). This work helps to inform biosafety precautions for handling blood products from patients with current or previous COVID-19

Development and Optimization of a Machine-Learning Prediction Model for Acute Desquamation After Breast Radiation Therapy in the Multicenter REQUITE Cohort.

Some patients with breast cancer treated by surgery and radiation therapy experience clinically significant toxicity, which may adversely affect cosmesis and quality of life. There is a paucity of validated clinical prediction models for radiation toxicity. We used machine learning (ML) algorithms to develop and optimise a clinical prediction model for acute breast desquamation after whole breast external beam radiation therapy in the prospective multicenter REQUITE cohort study. Using demographic and treatment-related features (m = 122) from patients (n = 2058) at 26 centers, we trained 8 ML algorithms with 10-fold cross-validation in a 50:50 random-split data set with class stratification to predict acute breast desquamation. Based on performance in the validation data set, the logistic model tree, random forest, and naïve Bayes models were taken forward to cost-sensitive learning optimisation. One hundred and ninety-two patients experienced acute desquamation. Resampling and cost-sensitive learning optimisation facilitated an improvement in classification performance. Based on maximising sensitivity (true positives), the "hero" model was the cost-sensitive random forest algorithm with a false-negative: false-positive misclassification penalty of 90:1 containing m = 114 predictive features. Model sensitivity and specificity were 0.77 and 0.66, respectively, with an area under the curve of 0.77 in the validation cohort. ML algorithms with resampling and cost-sensitive learning generated clinically valid prediction models for acute desquamation using patient demographic and treatment features. Further external validation and inclusion of genomic markers in ML prediction models are worthwhile, to identify patients at increased risk of toxicity who may benefit from supportive intervention or even a change in treatment plan. [Abstract copyright: © 2022 The Authors.