bluuebunny/crossref_metadata_2025 huggingface dataset:
Resultados clínicos da curetagem versus ressecção cirúrgica do tumor de células gigantes do rádio distal: Uma revisão sistemática e metanálise
Authors: Ali Sheikh Muhammad Ebad , Fatima Syeda Safeena , Munawar Bisma , Fatima Maheen , Naqvi Syeda Kisa Batool , Malik Laiba Urooj
Published: December 2024

Objetivo A curetagem e a ressecção cirúrgica são utilizadas para tratamento do tumor de células gigantes (TCG) do rádio distal, mas ainda há controvérsias acerca da superioridade de uma destas técnicas em relação à outra. O objetivo do presente estudo foi determinar e comparar os dois procedimentos quanto a complicações, recidiva local e mobilidade.

Métodos Três autores fizeram uma busca completa da literatura pertinente e a avaliaram de forma independente. Os estudos incluídos relataram pacientes submetidos ao tratamento cirúrgico do TCG do rádio distal por curetagem ou ressecção cirúrgica. A declaração dos Principais Itens para Relatar Revisões Sistemáticas e Metanálises (Preferred Reporting Items for Systematic Reviews and Meta-Analyses, PRISMA, em inglês) foi usada para determinar os desfechos da ressecção cirúrgica e curetagem do TCG do rádio distal. Estes dados foram a base de uma metanálise. Uma avaliação de qualidade também foi realizada.

Resultados A presente revisão incluiu 7 estudos, compreendendo 114 pacientes submetidos à ressecção e 108 à curetagem, totalizando 222 indivíduos (117 homens e 105 mulheres). De modo geral, os pacientes do grupo submetido à curetagem apresentaram maior taxa de recidiva (0,205; intervalo de confiança de 95% [IC95%] = 0,057–0,735; p = 0,015). A incidência de complicações foi a mesma em ambos os grupos (2,845; IC95% = 0,644–12,57; p = 0,168). As incidências de desfechos funcionais também foram as mesmas em ambos os grupos (−0,948; IC95% = −2,074–0,178; p = 0,099]).

Conclusão Os autores preferem a ressecção e reconstrução para tratamento do TCG do rádio distal como método ideal devido aos desfechos de resultados funcionais semelhantes e às menores chances de recidiva. A curetagem pode ser uma opção de tratamento no TCG de baixo grau, associada à terapia adjuvante, neoadjuvante ou ablação para redução do risco de recidiva.
A reconstrução do ligamento cruzado anterior com aumento por cerclagem interna resulta em menos rerrupturas em comparação à reconstrução sem aumento
Authors: Novaretti João Victor , Dias Junior Claudio Paula Pessoa , Lima Lucas Santos , Amaro Joicemar Tarouco , Gomes Daniel Esperante , Cohen Moises
Published: December 2024

Objetivo Comparar os desfechos clínicos da reconstrução do ligamento cruzado anterior (LCA) usando autoenxertos com e sem aumento por cerclagem interna.

Métodos Os dados de pacientes submetidos à reconstrução do LCA com autoenxertos de tendões isquiotibiais e quadríceps e aumento por cerclagem interna ou não, além de acompanhamento mínimo de um ano, foram coletados de forma prospectiva e analisados retrospectivamente. Os escores funcionais de Lysholm e Tegner foram determinados antes e após a cirurgia, e dados sobre as complicações pós-operatórias também foram coletados. A comparação das médias dos dois grupos foi feita por meio do teste t de Student ou do teste não paramétrico de Mann-Whitney, em caso de rejeição da normalidade dos dados.

Resultados Ao todo, 55 pacientes foram submetidos à reconstrução do LCA com cerclagem interna, e outros 55 pacientes foram submetidos à reconstrução do LCA sem cerclagem interna. Os pacientes tinham entre 16 e 63 anos de idade (média de 32,7 ± 11,4 anos). No total, 62 pacientes (56,4%) foram submetidos à reconstrução do LCA com enxerto de isquiotibiais, e 19 pacientes (17,3%) receberam enxerto de tendão do quadríceps, com variação de diâmetro de 7 mm a 11 mm (média de 8,95 ± 0,83 mm). Os escores pós-operatórios não diferiram entre os grupos (p > 0,05). Quatro pacientes do grupo reconstrução do LCA com cerclagem interna apresentaram complicações: 2 (3,7%) tiveram artrofibrose, 1 (1,8%) sofreu rerruptura, e 1 (1,8%), trombose. No grupo de reconstrução do LCA sem aumento, 7 pacientes manifestaram complicações: 2 (3,9%) tiveram artrofibrose, 4 (7,3%) sofreram rerruptura, e 1 (2%) apresentou infecção.

Conclusão Os resultados deste estudo mostram que houve menos casos de rerruptura do LCA após a reconstrução com aumento por cerclagem interna em comparação à reconstrução do LCA sem aumento, embora os escores funcionais não tenham apresentado diferenças.
Análise do perfil metabólico do líquido sinovial de pacientes com osteoartrite do joelho por meio da metabolômica por ressonância magnética espectroscópica
Authors: Alves Paulo Ricardo Picon , Aguiar Diego Pinheiro , Ladeira Aline Cordeiro Fernandes , Santos Gilson Costa dos , Sousa Eduardo Branco de
Published: December 2024

Objetivo Avaliar o perfil metabólico do líquido sinovial de pacientes com osteoartrite do joelho (OAJ) correlacionando com os dados clínicos.

Métodos Coletamos amostras de líquido sinovial do joelho de 50 indivíduos com OAJ durante artroplastia total do joelho entre outubro de 2019 e dezembro de 2020. Avaliamos, para cada paciente, os dados clínicos do prontuário médico, o grau de artrose radiográfica e a glicemia de jejum pré-operatória. As amostras foram submetidas à análise metabolômica por ressonância magnética (RM) 1H, e os espectros foram comparados por meio de análises multivariadas e univariadas.

Resultados O sexo feminino prevaleceu (66%), a média de idade foi 67,96 ± 7,08 anos e a média do índice de massa corporal (IMC) foi de 32,51 ± 5,25 kg/m2. Nas avaliações clínicas e metabólicas, 88% dos pacientes eram hipertensos, e encontramos maiores níveis de valina, arginina e citrato em comparação com pacientes não hipertensos.

Conclusão A análise metabolômica do líquido sinovial não conseguiu classificar os pacientes com OA de acordo com as características clínicas.
O sinal de lucência peritubercular como fator preditivo considerável de escorregamento no quadril contralateral em casos de escorregamento epifisário unilateral da cabeça do fêmur
Authors: Neto Anastácio Kotzias , Martinelli Renan Vinicius Romano , Gressler Marthina Alice , Oliveira Marco Aurélio de
Published: December 2024

Objetivo Determinar se o parâmetro radiográfico na região do tubérculo epifisário (sinal de lucência peritubercular) no lado não acometido pode prever o escorregamento epifisário da cabeça do fêmur (EECF).

Métodos Revisamos retrospectivamente pacientes com diagnóstico inicial de EECF unilateral entre 1995 e 2020 em um hospital pediátrico de uma capital brasileira. Os pacientes foram monitorados por pelo menos 18 meses. Dois revisores avaliaram as radiografias de forma independente e cega quanto à presença ou ausência do sinal. As divergências foram resolvidas por um terceiro revisor sênior.

Resultados Dos 115 casos revisados, o sinal de radiotransparência peritubercular foi observado em 21 dos 30 pacientes que desenvolveram a doença no quadril contralateral. O sinal foi observado em média 21 dias após o diagnóstico no primeiro lado e aproximadamente 301 dias antes do acometimento do quadril contralateral. Esteve presente, em 95% e 85% dos casos nas incidências em perfil (perna de rã) e anteroposterior (AP), respectivamente. A confiabilidade interobservador foi medida pelo teste Kappa (k = 0,0801). Houve relação significativa entre a presença do sinal e o EECF (p < 0,001).

Conclusão Propomos que o sinal de lucência peritubercular seja utilizado como ferramenta complementar no diagnóstico precoce de epifisiólise do fêmur proximal, pois é benéfico no planejamento terapêutico.

Nível De Evidência Nível III – Estudo De Pacientes Não Consecutivos (Sem Um “Padrão-Ouro” Aplicado Consistentemente Como Referência).
Eficácia do tratamento com placas volares em fraturas da borda dorsal do rádio distal
Authors: Bezirgan Uğur , Acar Erdinç , Yoğun Yener , Savran Merve Dursun , Keskin Ömer Halit , Armangil Mehmet
Published: December 2024

Objetivo Avaliar a eficácia das placas volares do rádio distal em casos de fragmentos dorsais na borda cubital (BC) e no tubérculo de Lister (TL).

Métodos Estudo retrospectivo que incluiu pacientes com fraturas do rádio distal (FRDs) com fragmentos dorsais na BC e no TL tratados com placas volares. Foram excluídos pacientes com fraturas da faceta semilunar, razão de fragmentos da BC inferior a 25% e tratamento com placas dorsais. As medidas radiográficas e tomográficas incluíram comprimento radial (CR), inclinação radial (IR), variância cubital (VC), inclinação palmar (IP), áreas de fragmentos, razão de fragmentos da BC e luxações. Foram avaliados as pontuações na classificação de Gartland Werley (GW) e no questionário Disabilities of the Arm, Shoulder and Hand (DASH), além da força de preensão e da amplitude de movimento (ADM).

Resultados O estudo incluiu 17 homens e 5 mulheres (idade média: 39,7 ± 10,7 anos). Os fragmentos da BC e do TL apresentaram áreas médias de 1,62 ± 0,73 cm2 e razão de fragmentos da BC de 0,4 ± 0,1. As taxas de fixação dos fragmentos da BC e do TL foram de 18,12% e 31,8%, respectivamente. Melhoras na IR, na VC e na IP foram observadas após a cirurgia. As médias das pontuações na GW e no DASH foram de 2,1 ± 2,0 e 4,3 ± 3,2, respectivamente. A força de preensão no lado operado foi de 89,5 ± 9,8% em comparação ao lado sadio, e pelo menos 90,9% dos pacientes alcançaram ADM adequada.

Conclusão Embora as placas volares sejam o tratamento padrão para FRDs intra-articulares, fragmentos dorsais deslocados podem afetar os resultados. Mini-incisões dorsais podem auxiliar na fixação de fragmentos da BC de tratamento difícil com placas volares, para preservar a saúde das articulações.
Stroke in Brazil: prevalence, activity limitations, access to healthcare, and physiotherapeutic treatment
Authors: Silva Luana Karoline Castro , Sousa Cristian Douglas Dantas de , Viana Ramon Távora , Jucá Renata Viana Brígido de Moura , Lopes Johnnatas Mikael , Faria Christina Danielli Coelho de Morais , Castro Shamyr Sulyvan de , Lima Lidiane Andrea Oliveira
Published: December 2024

Background Stroke remains a public health problem, reported as the third cause of disability. Among survivors, the ability to perform usual daily activities may be reduced, requiring rehabilitation.

Objective To investigate the prevalence of self-reported stroke, the accessibility of healthcare, and the degree and percentage of patients with limitations in usual activities who are unassisted by physiotherapeutic treatment in different regions of the country.

Methods This cross-sectional study was conducted using data from the 2019 National Health Survey. Participants aged 15 years or older from all five geographic regions of Brazil who reported a diagnosis of stroke were included. The data were analyzed using sample weighting and expressed as estimates along with a 95% confidence interval (CI).

Results The national prevalence of self-reported stroke in Brazil was 1.9% (95%CI 1.7–2.0), equivalent to 1,975 individuals with diagnosis. Of these, 50.2% reported limitations in their daily activities, and more than half (54.6%) had regular follow-ups with healthcare professionals. However, only 24.6% reported having access to rehabilitation, while 73.4% of individuals with activity limitations received no physiotherapeutic treatment.

Conclusion The prevalence of' self-reported stroke in the Brazilian population was 1.9%, with more than half experiencing limitations in their activities. While more than half of the stroke patients underwent follow-ups from a health professional, only ¼ of them reported having access to rehabilitation. Government interventions are necessary to ensure effective access to healthcare, including rehabilitation for the Brazilian population.
Validação do questionário Harris Hip Score modificado para a língua portuguesa – HHSmBr
Authors: Silva Julia Lavinia Pereira , Alves Debora Pinheiro Lédio , Figueiredo Sebastiana da Costa , Ricioli Junior Walter , Queiroz Marcelo Cavalheiro de , Polesello Giancarlo Cavalli
Published: December 2024

Objetivo Validar o instrumento de avaliação Harris Hip Score modificado para a língua portuguesa (HHSmBr).

Métodos Foi realizado o processo de validação para a língua portuguesa. As propriedades de medição do HHSmBr foram testadas em 100 pacientes (63% mulheres e 37% homens) com diferentes patologias do quadril. A confiabilidade teste-reteste foi aplicada nos 100 participantes com intervalo de 7 a 14 dias. Para avaliar a consistência interna utilizou-se o alfa de Cronbach e para a confiabilidade o coeficiente de correlação intraclasse (CCI). O efeito piso/teto foi avaliado a partir da distribuição de perguntas em diferentes categorias. Os pacientes responderam o Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC) e o Hip Disability and Osteoarthritis Outcome
Score (HOOS) para validação da estimativa.

Resultados A versão brasileira do HHSm mostrou consistência interna de 0,724 no teste e de 0,706 no reteste e confiabilidade teste-reteste (CCI = 0,80). O efeito piso/teto só ocorreu no domínio dor, com escores de 23,2% e 12,1% no teste e reteste, respectivamente. Ao correlacionar os escores do HHSmBr com os demais escores dos questionários citados, verificou-se que a menor correlação foi de −0,466 e a maior de −0,906 indicando correlação moderada a forte.

Conclusão O presente estudo mostrou que o HHSmBr é um questionário de avaliação específica do quadril válido e confiável para ser usado na língua portuguesa.
Efeitos da toxina botulínica sobre o tônus muscular e a mobilidade articular de crianças com síndrome congênita do Zika – Uma série de casos
Authors: Silva Patrícia Juliana da , Brito Ana Stela Salvino de , Silva Mariana Balbino da , Barros Nathalia Nogueira Romariz , Tavares Jousilene Sales , Gama Gabriela Lopes
Published: December 2024

Objetivo Avaliar os efeitos da toxina botulínica (BTX-A) sobre o tônus muscular e mobilidade articular de crianças com síndrome congênita do Zika (SCZ).

Métodos Trata-se de uma série de casos longitudinal realizada em um Centro de Apoio a Criança com Microcefalia, localizado no nordeste do Brasil. A coleta de dados foi realizada a partir dos prontuários dessa instituição, com o registro de informações sobre o tônus muscular e a mobilidade articular passiva, mensuradas pelo menos 3 meses antes e 4 semanas após a aplicação da BTX-A.

Resultados Foram avaliadas 13 crianças (9 meninos) com idade média de 77 ± 7,1 meses. Após a aplicação da BTX-A, foi observada redução bilateral do nível de hipertônia nos músculos flexores do cotovelo (p < 0,01) e adutores de quadril (p < 0,05) bilateralmente.

Conclusão Nenhuma mudança foi observada na mobilidade articular e nenhum efeito adverso foi relatado pelos cuidadores após a aplicação. O uso da BTX-A é capaz de promover a redução do nível de hipertonia de crianças com SCZ, sem impactar a mobilidade articular.
Relação entre uma escala radiográfica de doença degenerativa lombar e qualidade de vida
Authors: Lira Réjelos Charles Aguiar , Pratali Raphael de Rezende , Daher Murilo Tavares , Pokorny Gabriel Henrique , Amaral Rodrigo Augusto do , Herrero Carlos Fernando Pereira da Silva
Published: December 2024

Objetivo Avaliar a correlação entre uma escala radiográfica de doença degenerativa lombar e o Índice de Incapacidade de Oswestry (Oswestry Disability Index, ODI, em inglês).

Métodos Estudo transversal em que o questionário de qualidade de vida ODI e os parâmetros radiográficos para a classificação da doença degenerativa lombar em diferentes graus foram comparados para se tentar estabelecer uma relação entre eles.

Resultados A relação entre os parâmetros radiográficos e os indicadores de qualidade de vida não é homogênea ao se considerar os diferentes graus da escala de classificação lombar. A doença degenerativa lombar de grau 2 apresentou relação estatisticamente significativa com a piora da pontuação no ODI de qualidade de vida.

Conclusão A escala de classificação de doenças degenerativas lombares utilizada neste estudo demonstrou potencial clínico relevante, pois apresentou relação significativa com a qualidade de vida medida pela pontuação no ODI em parte dos grupos avaliados.
Bloqueio farmacológico dos nervos geniculares no tratamento da osteoartrite de joelho
Authors: Fonseca Bruno Paulo Marques da , Nakama Gilberto Yoshinobu , Marques Guilherme Loterio , Araujo Guilherme Ferrari de , Soares Fernanda Martinho , Canto Alan Motta do
Published: December 2024

Objetivo Avaliar os resultados clínicos e funcionais do bloqueio farmacológico dos nervos geniculares como modalidade no arsenal terapêutico da osteoartrite de joelho, uma vez que é simples, seguro e minimamente invasivo.

Métodos Foi realizado o bloqueio farmacológico dos nervos geniculares de 20 pacientes com osteoartrite de joelho de graus 3 e 4 segundo a classificação de Kellgren-Lawrence, e foram avaliadas as respostas clínica e funcional no primeiro, terceiro e sexto meses após o procedimento.

Resultados Dos 20 pacientes estudados e submetidos ao procedimento, 16 (80%) tiveram uma resposta excelente até o retorno ambulatorial do primeiro mês, isto é, foram de um nível de dor de 8/9 para 2/3; 2 deles tiveram uma resposta parcial e outros 2 não responderam ao tratamento.

Conclusão O bloqueio farmacológico dos nervos geniculares é eficiente na diminuição da dor e na melhora do desempenho dos pacientes nas atividades diárias, principalmente até o terceiro mês após o procedimento.
Avaliação dos parâmetros angulares radiográficos no plano coronal dos membros inferiores em indivíduos sem osteoartrite de joelho em um hospital de referência do Sistema Único de Saúde
Authors: Motta Diego Perez da , Silva Larissa da , Kropf Leandro Lemgruber , Cerqueira Fernando dos Santos , Leonetti Bruno Domenico , Cerqueira Flavio dos Santos
Published: December 2024

Objetivo Este estudo pretende demonstrar os parâmetros angulares radiológicos de uma amostra de pacientes atendidos em nossa instituição e comparar as alterações radiológicas com outras classificações ou parâmetros presentes na literatura.

Métodos Avaliar uma amostra de pacientes submetida ao exame radiográfico panorâmico de membros inferiores. Os critérios de inclusão utilizados foram: (1) Pacientes sem osteoartrite de joelho avaliados por ortopedista. (2) Avaliação radiográfica bilateral no exame panorâmico de membros inferiores. (3) Exame radiográfico panorâmico de membros inferiores realizado previamente a qualquer procedimento cirúrgico. (4) Pacientes com idade superior a 18 anos.

Resultados Foram avaliados 1.242 membros inferiores. O eixo neutro foi observado em 875 membros inferiores (70.4%) da amostra total. A etiologia não traumática foi a mais frequente observada, apresentando o desvio em varo do segmento tibial em 253 casos e localização do ápice da deformidade no terço proximal do segmento tibial. O desvio em valgo do eixo mecânico também foi observado mais comumente na etiologia não traumática (82.3%). Na comparação pela classificação Coronal Plane Alignment of the Knee (CPAK), o tipo I foi o mais frequente (44.8%), seguido pelo tipo III (37.1%) na amostra total.

Conclusão Foram identificadas alterações nos parâmetros angulares apresentadas pela amostra de pacientes de um hospital de referência do Sistema Único de Saúde (SUS) com características diferentes de amostras populacionais de outros países.
Estudo radiográfico do acesso endoscópico transforaminal L5-S1 em uma amostra da população brasileira
Authors: Nagasse Yoshinobu , Lima Caio Justino , Ferreira João Pedro Alves , Utino Edgar Takao , Bergamaschi João Paulo , Defino Helton Luís Aparecido
Published: December 2024

Objetivo Avaliar radiografias da coluna lombar utilizando as classificações de Choi e Patgaonkar, e verificar parâmetros que possam influenciar o acesso transforaminal L5–S1.

Métodos Cento e sessenta e sete radiografias de coluna lombossacra de pacientes maiores de 18 anos, sem históricos de cirurgias, tumores, fraturas ou escoliose, foram estudadas. Aferiu-se a altura da crista ilíaca e o ângulo da borda do ilíaco. Os casos foram categorizados conforme morfologia pélvica, presença de megapófise e classificações de Choi e de Patgaonkar.

Resultados Setenta e cinco casos exibiram pelve androide, e 92 ginecoide. A média da altura do ilíaco foi de 25,9 ± 7,5 cm, e do ângulo de borda do ilíaco foi de 23,4 ± 7,5 graus. A pelve ginecoide mostrou menor altura do ilíaco. Segundo a classificação de Patgaonkar, 63 casos indicaram acesso suprailíaco; pela classificação de Choi, 37 foram considerados aptos para acesso suprailíaco e 106 para acesso suprailíaco com foraminoplastia.

Conclusão Pelves ginecoides tiveram menor altura do ilíaco. Além disso, 37,7% dos casos foram aptos para acesso suprailíaco pela classificação de Patgaonkar. De acordo com a classificação de Choi, 22,1% estavam aptos para o acesso suprailíaco e 63,4% foram considerados aptos para acesso suprailíaco com foraminoplastia.
Recent advances in autoimmune encephalitis
Authors: Ferreira João Henrique Fregadolli , Disserol Caio César Diniz , de Freitas Dias Bruna , Marques Alexandre Coelho , Cardoso Marina Driemeier , Silva Pedro Victor de Castro , Toso Fabio Fieni , Dutra Lívia Almeida
Published: December 2024

Since the description of autoimmune encephalitis (AE) associated with N-methyl-D-aspartate receptor antibodies (anti-NMDARE) in 2007, more than 12 other clinical syndromes and antibodies have been reported. In this article, we review recent advances in pathophysiology, genetics, diagnosis pitfalls, and clinical phenotypes of AE associated with cell surface antibodies and anti-GAD associated neurological syndromes. Genetic studies reported human leukocyte antigen (HLA) associations for anti-LGI1, anti-Caspr2, anti-IgLON5, and anti-GAD. Follow-up studies characterized cognitive dysfunction, psychiatric symptoms, sleep disorders, and adaptative behavior dysfunction, mainly for anti-NMDARE. Late-onset anti-NMDARE and anti- GABA-B receptor (GABA-BR) encephalitis patients were described to have worse prognoses and different tumor associations. Additionally, the clinical spectrum of anti-LGI1, anti-AMPAR, anti-CASPR2, and anti-IgLON5 was expanded, comprising new differential diagnoses. The diagnostic criteria for AE were adapted to the pediatric population, and a diagnostic algorithm was proposed, considering potential mimics and misdiagnosis. We also review the limitations of commercial assays for AE and treatment recommendations, as well as clinical scales for short and long-term assessment of AE patients, along with cognitive evaluation.
Chain of secular equations in the lattice vibration problem
Authors: Kovalev O. V.
Published: December 2024

The following theorem is proved. Any quadratic form I, which is composed of coordinates that transform according to the corepresentation D of the group Φ+KΦ of unitary and antiunitary operators and is invariant with respect to Φ+KΦ, can be written as U=∑IijAIjuIji*uIji, where uIji is the i-th coordinate transforming according to the irreducible representation (ICR) DIj of the sum D = ΣDIj (nonequivalent ICR's have different I’s while equivalent ICR's differ only as to their subscript j). It is a difficult case when D contains several identical type-b ICR's. This in fact is the case considered here. To ensure that the proof of the theorem would be of direct practical application we calculate the frequencies of crystal vibrations. In doing so we examine all versions of Brillouin-zone points and ICR types and we reduce the proof itself to the development of a method employing a chain of secular equations that would ensure transformation to the form of Eq. (1). The practical importance of the method is that only with it can the correct number of different frequencies be obtained in approximate numerical calculations. For the first time the theorem substantiates the assumption, made in the Landau-Lifshitz theory of second-order phase transitions, that a second-order transition can be related to the reversal of the sign of the coefficient of one second-order invariant. The situation, which is equivalent to the case of several identical type-b ICR's, has not been considered in the traditional scheme for analysis of lattice vibrations and hence, the traditional scheme can be regarded as being incomplete. The normal coordinates should be defined as coordinates that transform according to some ICR and correspond to a particular value of the frequency.
Quantifying vegetation recovery after fire considering post-fire rainfall
Authors: Dikshit Abhirup , Evans Jason P
Published: December 2024

Bushfires alter ecosystems, necessitating the study of post-fire vegetation recovery to better understand vegetation health and vegetation activity. This study uses a data-driven statistical method, Time Series Segmentation on Residual Trend (TSS-RESTREND) to quantify the local rainfall effect on post-fire vegetation recovery across different landcovers in the Gospers Mountains region, New South Wales after the extraordinary 2019/20 Black Summer fire event. The TSS-RESTREND method accounts for the rainfall each year, predicting the vegetation coverage/density and compares the observed vegetation to this in the post-fire period. The findings suggest that the higher than usual precipitation led to a 5% increase in the vegetation index in the year following the fire, attributable to the above average rainfall during that period. This equates to vegetation recovery in the first year that would have taken at least 2 years under normal rainfall conditions. The results also show forests take a longer time to recover whereas the impact on pastures is short-lived. Vegetation recovery depends on fire severity, where forests burned under extreme severity take longer to recover compared to moderate and high severity. The study can assist in providing new information for understanding post-fire vegetation recovery across different landcovers in the context of Australian bushfires.
Systolic Blood Pressure Modifies the Effect of Endovascular Thrombectomy in Acute Ischemic Stroke: A Mediation Analysis
Authors: Xu Dingkang , Qi Peng , He Qiang , Shan Dezhi , Yang Guozheng , Yang Hongchun , Liu Peng , Liang Hui , Lei Shixiong , Guo Fuyou , Wang Daming , Lu Jun
Published: December 2024

BACKGROUND

Systolic blood pressure (BP) is a key factor in the outcomes of patients with acute ischemic stroke (AIS) receiving endovascular thrombectomy (EVT). However, the factors that mediate the association between BP and clinical outcome are unclear.

METHODS

Consecutive patients with AIS in the anterior circulation underwent continuous BP monitoring for 24 hours. The 3-month modified Rankin scale (mRS) score was defined as the clinical functional outcome. The systolic BPI indices (BPIs) were successive variation, standard deviation, variability independent of mean BP (VIM), and 24-hour mean BP. Regression analysis was used to assess the correlation between different BPIs and functional outcomes, whereas mediation analysis was employed to assess the potential mediating effects of baseline risk factors through BP on functional outcomes.

RESULTS

A total of 140 of 292 patients (47.9%) achieved functional independence, and 87 (29.8%) experienced hemorrhagic transformation (HT). A history of stroke or hypertension and NIHSS score at onset were associated with SD and VIM (P < 0.05). BP variation (BPV) was still strongly associated with functional outcomes after adjustment for different risk factors. Mediation analysis revealed that stroke affected functional outcomes by affecting BPV, while the hypertension history affected functional prognosis by impacting the 24-hour mean BP and BPV. In addition, higher National Institute of Health stroke scale (NIHSS) scores were associated with increased BPV, whereas increased BPV was correlated with a greater proportion of unfavorable outcomes.

CONCLUSIONS

To our knowledge, this study is the first to explore the mediating effects of different BPIs on the relationships between risk factors and functional outcomes and may provide new insights and potential mechanisms for improving AIS prognosis.
A review of deep learning models for the prediction of chromatin interactions with DNA and epigenomic profiles
Authors: Wang Yunlong , Kong Siyuan , Zhou Cong , Wang Yanfang , Zhang Yubo , Fang Yaping , Li Guoliang
Published: December 2024

Advances in three-dimensional (3D) genomics have revealed the spatial characteristics of chromatin interactions in gene expression regulation, which is crucial for understanding molecular mechanisms in biological processes. High-throughput technologies like ChIA-PET, Hi-C, and their derivatives methods have greatly enhanced our knowledge of 3D chromatin architecture. However, the chromatin interaction mechanisms remain largely unexplored. Deep learning, with its powerful feature extraction and pattern recognition capabilities, offers a promising approach for integrating multi-omics data, to build accurate predictive models of chromatin interaction matrices. This review systematically summarizes recent advances in chromatin interaction matrix prediction models. By integrating DNA sequences and epigenetic signals, we investigate the latest developments in these methods. This article details various models, focusing on how one-dimensional (1D) information transforms into the 3D structure chromatin interactions, and how the integration of different deep learning modules specifically affects model accuracy. Additionally, we discuss the critical role of DNA sequence information and epigenetic markers in shaping 3D genome interaction patterns. Finally, this review addresses the challenges in predicting chromatin interaction matrices, in order to improve the precise mapping of chromatin interaction matrices and DNA sequence, and supporting the transformation and theoretical development of 3D genomics across biological systems.
PhyImpute and UniFracImpute: two imputation approaches incorporating phylogeny information for microbial count data
Authors: Luo Qianwen , Zhang Shanshan , Butt Hamza , Chen Yin , Jiang Hongmei , An Lingling
Published: December 2024

Sequencing-based microbial count data analysis is a challenging task due to the presence of numerous non-biological zeros, which can impede downstream analysis. To tackle this issue, we introduce two novel approaches, PhyImpute and UniFracImpute, which leverage similar microbial samples to identify and impute non-biological zeros in microbial count data. Our proposed methods utilize the probability of non-biological zeros and phylogenetic trees to estimate sample-to-sample similarity, thus addressing this challenge. To evaluate the performance of our proposed methods, we conduct experiments using both simulated and real microbial data. The results demonstrate that PhyImpute and UniFracImpute outperform existing methods in recovering the zeros and empowering downstream analyses such as differential abundance analysis, and disease status classification.
Gretl—variation GRaph Evaluation TooLkit
Authors: Vorbrugg Sebastian , Bezrukov Ilja , Bao Zhigui , Weigel Detlef
Published: December 2024

Motivation

As genome graphs are powerful data structures for representing the genetic diversity within populations, they can help identify genomic variations that traditional linear references miss, but their complexity and size makes the analysis of genome graphs challenging. We sought to develop a genome graph analysis tool that helps these analyses to become more accessible by addressing the limitations of existing tools. Specifically, we improve scalability and user-friendliness, and we provide many new statistics tailored to variation graphs for graph evaluation, including sample-specific features.

Results

We developed an efficient, comprehensive, and integrated tool, gretl, to analyze genome graphs and gain insights into their structure and composition by providing a wide range of statistics. gretl can be utilized to evaluate different graphs, compare the output of graph construction pipelines with different parameters, as well as perform an in-depth analysis of individual graphs, including sample-specific analysis. With the assistance of gretl, novel patterns of genetic variation and potential regions of interest can be identified, for later, more detailed inspection. We demonstrate that gretl outperforms other tools in terms of speed, particularly for larger genome graphs.

Availability and implementation

Commented Rust source code and documentation is available under MIT license at https://github.com/MoinSebi/gretl together with Python scripts and step-by-step usage examples. The package is available at Bioconda for easy installation.
Assessing gene flow between Dicranum scoparium Hedw. and D. bonjeanii De Not. (Dicranaceae) using single nucleotide polymorphisms (SNPs)
Authors: Klink Jan M A , Cronberg N , Lang A S , Stech M
Published: December 2024

While hybridisation in vascular plants has received considerable attention, hybridisation in bryophytes is still relatively understudied. Here we investigate hybridisation between two species from the moss genus Dicranum Hedw. Dicranum scoparium Hedw. and D. bonjeanii De Not. are two moss species of the D. scoparium species complex with partially overlapping morphology and habitat ranges. This study aimed to investigate a potential hybridisation pathway between the two species by using single nucleotide polymorphisms (SNP), morphologically identifying the sex of the specimens and analysing potential sex-specific SNP markers, focusing on southern Sweden. The species differ by D. scoparium being polymorphic and D. bonjeanii monomorphic for the used SNP markers. The SNP markers genetically separate D. scoparium and D. bonjeanii specimens, although admixture between the species was observed on a limited scale. This admixture appears to originate from unidirectional fertilisation of D. bonjeanii by D. scoparium (with a genome skewed towards D. scoparium as a result), possibly followed by back-crossing of first-generation hybrids with D. scoparium. Male expressing specimens were completely absent in the D. bonjeanii samples, making a fertilisation of D. bonjeanii by males of D. scoparium more likely. No sex-specificity was observed in the used SNP markers.
De-escalating and discontinuing disease-modifying therapies in multiple sclerosis
Authors: Androdias Géraldine , Lünemann Jan D , Maillart Elisabeth , Amato Maria Pia , Audoin Bertrand , Bruijstens Arlette L , Bsteh Gabriel , Butzkueven Helmut , Ciccarelli Olga , Cobo-Calvo Alvaro , Derfuss Tobias , Di Pauli Franziska , Edan Gilles , Enzinger Christian , Geraldes Ruth , Granziera Cristina , Hacohen Yael , Hartung Hans-Peter , Hynes Sinéad , Inglese Matilde , Kappos Ludwig , Kuusisto Hanna , Langer-Gould Annette , Magyari Melinda , Marignier Romain , Montalban Xavier , Mycko Marcin P , Nourbakhsh Bardia , Oh Jiwon , Oreja-Guevara Celia , Piehl Fredrik , Prosperini Luca , Sastre-Garriga Jaume , Sellebjerg Finn , Selmaj Krzysztof , Siva Aksel , Tallantyre Emma , van Pesch Vincent , Vukusic Sandra , Weinstock-Guttman Bianca , Zipp Frauke , Tintoré Mar , Iacobaeus Ellen , Stankoff Bruno
Published: December 2024

The development of disease-modifying therapies (DMTs) for the treatment of multiple sclerosis (MS) has been highly successful in recent decades. It is now widely accepted that early initiation of DMTs after disease onset is associated with a better long-term prognosis. However, the question of when and how to de-escalate or discontinue DMTs remains open and critical. This topic was discussed during an international focused workshop organized by the European Committee for Treatment and Research in Multiple Sclerosis (ECTRIMS) in 2023. The aim was to review the current evidence on the rationale for, but also the potential pitfalls of, treatment de-escalation in MS. Several clinical scenarios emerged, mainly driven by a change in the benefit-risk ratio of DMTs over the course of the disease and with aging. The workshop also addressed the issue of de-escalation by the type of DMT used and in specific situations including pregnancy and paediatric onset MS. Finally, we provide practical guidelines for selecting appropriate patients, defining de-escalation and monitoring modalities, and outline unmet needs in this field.
Synergistic effect of teclistamab with PD-1 inhibition: a case of acute interstitial nephritis with dual immunotherapy
Authors: Mohan Arjunmohan , Barbir Elena-Bianca , Hernandez Loren Herrera , Leung Nelson , Herrmann Sandra M
Published: December 2024

We report a case of acute interstitial nephritis (AIN) in a 68-year-old male with squamous cell carcinoma (SCC) and relapsed/refractory multiple myeloma (RRMM) who developed acute kidney injury (AKI) shortly after starting teclistamab for RRMM. Despite stable renal function on immune checkpoint inhibitor (ICI) therapy for SCC, proton pump inhibitors and trimethoprim-sulfamethoxazole for 3 years, AKI only occurred post-teclistamab initiation. Biopsy-confirmed AIN with serum creatinine improved only after pulse-dose steroids. This case highlights a potential synergistic nephrotoxic effect of teclistamab and ICIs, warranting further investigation into teclistamab's renal safety.
Moderately elevated ambient temperature is associated with mortality in dialysis patients, but not in transplant patients
Authors: Couchoud Cécile , Lobbedez Thierry , Bayat Sahar , Glowacki François , Brunet Philippe , Frimat Luc
Published: December 2024

Background

In many parts of the world, heat waves have been associated with excess morbidity and mortality in the general population. Studies on the effects of high-temperature exposure in kidney transplantation are lacking and are scare in dialysis patients. The aim of this study was to investigate the association between high temperatures and mortality for chronic kidney disease (CKD) stage 5 patients treated with dialysis or with a kidney graft in France using various definition of elevated temperature.

Methods

In this retrospective cohort study, the association between temperature indicators and mortality was analysed with Poisson models taking into account the trend over time and seasonality and possible confounding factors. Models were compared by their AIC. All patients treated with RRT between 2012 and 2022 in France were extracted from the national REIN registry. Various definitions of elevated temperatures were explored based on all temperature measured at one station per district per hour and per day, from June to September during the years 2012–2022 in Metropolitan France.

Results

Between June and September, over the years 2012–2022, temperatures varied from 6.7 to 45.4°C. During this period, 20 174 deaths were recorded among 116 808 dialysis patients and 3340 among 64 531 transplanted patients. A maximum temperature >32.5°C was associated with mortality and an incidence ratio (IR) of 1.09 (1.04–1.15) in the dialysed population. No association was found among transplanted patients.

Conclusions

Further analyses are needed to confirm these results and better understand the biological and clinical impact of heat intensity and the cumulative effect with other environmental factors such as air pollution. More detailed studies on reasons for hospitalizations and causes of death are also planned.
MiCK: a database of gut microbial genes linked with chemoresistance in cancer patients
Authors: Shahzaib Muhammad , Muaz Muhammad , Zubair Muhammad Hasnain , Kayani Masood Ur Rehman
Published: December 2024

Cancer remains a global health challenge, with significant morbidity and mortality rates. In 2020, cancer caused nearly 10 million deaths, making it the second leading cause of death worldwide. The emergence of chemoresistance has become a major hurdle in successfully treating cancer patients. Recently, human gut microbes have been recognized for their role in modulating drug efficacy through their metabolites, ultimately leading to chemoresistance. The currently available databases are limited to knowledge regarding the interactions between gut microbiome and drugs. However, a database containing the human gut microbial gene sequences, and their effect on the efficacy of chemotherapy for cancer patients has not yet been developed. To address this challenge, we present the Microbial Chemoresistance Knowledgebase (MiCK), a comprehensive database that catalogs microbial gene sequences associated with chemoresistance. MiCK contains 1.6 million sequences of 29 gene types linked to chemoresistance and drug metabolism, curated manually from recent literature and sequence databases. The database can support downstream analysis as it provides a user-friendly web interface for sequence search and download functionalities. MiCK aims to facilitate the understanding and mitigation of chemoresistance in cancers by serving as a valuable resource for researchers.

Database URL: https://microbialchemreskb.com/
Air pollution exposure is associated with gene expression in children
Authors: Das Siddhartha , Rundblad Amanda , Marques Irene Fontes , Soares Ana Goncalves , Jaddoe Vincent W , Vrijheid Martine , Nieuwenhuijsen Mark , Verlouw Joost , Matthews Jason , Holven Kirsten B , Thoresen Magne , Timpson Nicholas J , Felix Janine F , Ulven Stine M
Published: December 2024

Environmental exposures, including air pollutants and lack of natural spaces, are associated with suboptimal health outcomes in children. We aimed to study the associations between environmental exposures and gene expression in children. Associations of exposure to particulate matter (PM) with diameter <2.5 (PM2.5) and < 10 (PM10) micrometers, nitrogen dioxide, green spaces, and blue space, with whole-blood gene expression were explored in children from the Dutch Generation R Study (n = 172). Analyses were adjusted for age, sex, batch, maternal education, and area socioeconomic status. Follow-up analysis was carried out using lymphoblastoid cell line gene expression in children from the ALSPAC Study (n = 946). Gene set enrichment analysis (GSEA) using hallmark and immune gene sets from the molecular signature database was carried out to identify significantly over-represented gene sets for insights into biological mechanisms Exposure to PM2.5 was associated with expression of 86 genes in discovery analyses in the Generation R Study [false discovery rate (FDR)-adjusted P-value < .25]. Of these, PM2.5 was also associated with GNG11 expression in the same direction in follow-up analysis (FDR-adjusted P-value < .05). The remaining exposures showed much fewer associations in the discovery analyses. GSEA using PM2.5 association results for both cohorts indicated suppression of gene sets related to interferon response and response to bacterial and viral exposure. In conclusion, gene expression analysis performed in two independent cohorts suggests that PM2.5 exposure in children may be involved in interferon and microbial infection responses.
To Defer or to Differ: Experimental Evidence on the Role of Cash Transfers in Nigerian Couples’ Decision–Making
Authors: Bakhtiar M Mehrab , Fafchamps Marcel , Goldstein Markus , Leonard Kenneth L , Papineni Sreelakshmi
Published: December 2024

We conduct an original lab-in-the-field experiment on the decision–making process of married couples over the allocation of rival and non-rival household goods. The experiment measures individual preferences over allocations and traces the process of deferral, consultation, communication and accommodation by which couples implement these preferences. We find few differences in individual preferences over allocations of goods. However, wives and husbands have strong preferences over process: women prefer to defer decisions to their husbands even when deferral is costly and is not observed by the husband; men rarely defer under any condition. Our study follows a randomised controlled trial that ended a year earlier and gave large cash transfers over eighteen months to half of the women in the study. We estimate the effect of treatment on the demand for agency among women and find that the receipt of cash transfers does not change women’s bargaining process except in a secret condition when the decision to defer is shrouded from her husband. This suggests that the cash transfer to women increases their demand for agency but does not change the intra-household balance of power enough to allow them to express it publicly.
Digital quantification of somatostatin receptor subtypes 2 and 5 in growth hormone–secreting pituitary tumors
Authors: Campana Claudia , Amarù Jessica , Milioto Angelo , Nista Federica , van Koetsveld Peter M , Iyer Anand , Arvigo Marica , Ferone Diego , Hofland Leo J , Gatto Federico
Published: December 2024

Immunohistochemistry (IHC) of somatostatin receptor subtype 2 can predict response to first-generation somatostatin receptor ligands (fg-SRLs) in acromegaly. Recently, we validated an open-source digital image analysis (DIA) to quantify somatostatin receptor subtype 2 (SSTR2) expression. We aimed to validate the DIA also on somatostatin receptor subtype 5 (SSTR5) in a new cohort of growth hormone (GH)-secreting pituitary tumors, with IHC performed in a different laboratory, and to correlate fg-SRL response with SSTs expression. Somatostatin receptor subtype 2 and SSTR5 were assessed in 42 GH-secreting pituitary tumors, using a semiquantitative immunoreactivity score (IRS) and the DIA by use of the open-access software CellProfiler. The DIA calculates the staining intensity and the percentage of positive cells (%PC). We found a good correlation between IRS and DIA for both SSTR2 and SSTR5 (P < .001), demonstrating the reliability of the DIA in this setting. Response to fg-SRL treatment correlated with SSTR2, but not SSTR5, expression. Somatostatin receptor subtype 2 expression predicted response to fg-SRL. In particular, the identified cut-offs were IRS ≥ 5 (area under the curve [AUC] 0.763; sensitivity 77%; specificity 83%); intensity/area ≥0.106 (AUC 0.833; sensitivity 92%; specificity 83%); and %PC-DIA ≥63.7% (AUC 0.917; sensitivity 92%; specificity 83%). The SSTR2 %PC correlated with treatment response only when evaluated using the DIA, showing a better performance of this method.
Opinion of Polish doctors on the use of futile therapy
Authors: Damps Maria , Gajda Maksymilian , Wiktor Łukasz , Byrska-Maciejasz Elżbieta , Rybojad Beata , Kowalska Małgorzata , Bartkowska-Śniatkowska Alicja , Paprocka-Lipińska Anna , Kucewicz-Czech Ewa
Published: December 2024

The discontinuation of futile therapy is increasingly discussed in Polish clinical practice. Given the need to ensure patient well-being, it is essential to consider whether all clinical options resulting from medical progress should be used for every patient and on what grounds decisions to limit therapy should be based. The aim of our study was to determine the opinions of Polish medical doctors on this topic. We anonymously surveyed physicians across various specialties. An analysis of the collected data was carried out using descriptive and analytical methods. A total of 323 physicians participated in the study; 93% of them were aware of the problem of futile therapy in adults, with intensivists being significantly more aware (P = 0.002). Additionally, 95% of respondents supported the idea of discontinuing futile therapy, and over 68% used the therapy discontinuation protocol. Among the most common reasons for undertaking futile therapy, respondents cited fear of legal liability (93.5%), as well as fear of being accused of unethical behavior (62.2%) and fear before talking to the patient/patient’s family and their reactions (57.9%). Respondents also identified factors that would facilitate making decisions about limiting futile therapy, including precise qualification criteria for limiting therapy and education in this area (95.3%), the patient’s declaration of will (87.5%), and a clear legal act (81.3%). The majority of study participants supported the idea of limiting futile therapy, and this issue is well known among Polish physicians.