Segmental filiform-polyposis in a treated case of ulcerative colitis, colon: An unusual presentation raising a doubt of primary diagnosis?

Inflammatory bowel disease is broadly classified into Crohn's disease and ulcerative colitis. The standard criteria to distinguish between the two is the manner of the involvement of the bowel, with the former showing classical skip lesions and the latter having continuous involvement of the colon, most commonly affecting the rectum. However, some cases exhibit overlapping features. Herein, we report a treated case of ulcerative colitis presenting with patchy involvement of the colon in the form of peculiar segmental filiform polyposis spanned abruptly by an intervening normal mucosa. The clinico-radiologically suspicion of carcinoma colon with Crohn's colitis was considered. The clinicians and pathologists must be aware of such atypical presentations and should not be misled to change the diagnosis from ulcerative colitis to Crohn's colitis on the post-treatment resection specimens or endoscopic biopsies solely in view of the patchy filiform polyposis (FP), which poses a drastic impact on the patient's management.

Development of an integrated telerehabilitation model in children with cerebral visual impairment in South India during the COVID-19 pandemic – A pilot study

Purpose: Coronavirus disease 2019 (COVID?19) pandemic affected the in?person rehabilitation/habilitation services in families with children with cerebral visual impairment (CVI) in India. This study aimed to develop a structured and family?centered telerehabilitation model alongside conventional in?person intervention in children with CVI to observe its feasibility in the Indian population. Methods: This pilot study included 22 participants with a median age of 2.5 years (range: 1–6) who underwent a detailed comprehensive eye examination followed by functional vision assessment. The visual function classification system (VFCS) was administered to the children and the structured clinical question inventory (SCQI) to the parents. Every participant underwent 3 months of telerehabilitation including planning, training, and monitoring by experts. At 1 month, the parental care and ability (PCA) rubric was administered to the parents. After 3 months, in an in?person follow?up, all the measures were reassessed for 15 children. Results: After 3 months of Tele?rehabilitation there were significant improvements noted in PCA rubric scores (P<0.05). Also, statistically significant improvements were noted in functional vision measured using SCQI and VFCS scores (P<0.05) compared to baseline. Conclusion: The outcomes of the study provide the first steps towards understanding the use of a novel tele?rehabilitation model in childhood CVI along?side conventional face?to?face intervention. The added role of parental involvement in such a model is highly essential.

A Case of Lepromatous Leprosy with Laryngeal Involvement Presenting as Dysphonia

Involvement of larynx is a uncommon manifestation but could be the first time when the patient may be reporting to a specialist. This is the case report of a 65-year-old man who presented with dysphonia, was evaluated and was diagnosed as lepromatous leprosy with laryngeal involvement. On clinical examination the patient was found to have signs of leprosy – leonine face, nodular involvement of ears, madarosis, oedema of hands and feet, trophic ulcer on right foot. Bilateral greater auricular nerves were found to be enlarged. Video laryngoscopy revealed pale edematous epiglottis, arytenoid and aryepiglottic folds, with nodules on epiglottis. Biopsy from aryepiglottic fold and skin both was done. The diagnosis of lepromatous leprosy was confirmed with histopathology of biopsy from both skin and epiglottic fold. MRI imaging of the neck with contrast showed diffuse hyperintensity in the glottic-supraglottic larynx with asymmetry in the aryepiglottic fold and vocal cord. This experience shows that clinical suspicion is most critical element in reaching the diagnosis of leprosy

Evaluación renal y multiorgánica en el paciente con encefalopatía hipóxico-isquémica / Renal and multiorgan evaluation in infants with post-asphyxial hypoxic-ischaemic encephalopathy

Resumen Introducción: La encefalopatía hipóxico-isquémica (EHI) moderada-grave secundaria a asfixia perinatal puede afectar a cualquier órgano, empeorando el pronóstico. Objetivo: Evaluar la afectación renal y multiorgánica de estos pacientes. Material y método: Se incluyó a recién nacidos > 35 semanas con EHI moderada-grave tratados con hipotermia activa entre 2010 y 2020. Se evaluó la creatinina en tres periodos: 48-72 horas de vida, entre el 3.o y 7.o día de vida y del 7.o al 28.o día de vida. Resultados: Se incluyeron 135 pacientes: 112 con EHI moderada y 23 con EHI grave. Al comparar ambos grupos, se obtuvieron diferencias significativas a las 48-72 horas y entre 3.o-7.o día de vida. No hubo diferencias al comparar el método de hipotermia. Los pacientes con EHI grave presentaron mayor afectación hemodinámica, respiratoria y hepática. Conclusiones: Neonatos con EHI grave presentan aumento de los niveles de creatinina sérica y mayor afectación multiorgánica respecto a aquellos con EHI moderada.

Abstract Background: Hypoxic-ischemic encephalopathy (HIE) secondary to perinatal asphyxia can affect any organ, worsening the prognosis. Objective: To describe renal and multiorgan involvement in moderate-severe HIE. Material and method: Newborns > 35 weeks diagnosed with moderate-severe HIE who required active hypothermia between 2010-2020 were included. To assess renal involvement, serum creatinine was measured in three different periods: at 48-72 hours, between the 3rd and the 7th day, and from the 7th to the 28th day. Results: A total of 135 patients were included, 112 (83%) with moderate and 23 (17%) with severe HIE. Significant differences were obtained when comparing median creatinine levels at 48-72 hours and between 3-7 days in both groups. There were no differences in creatinine according to the hypothermia method. Patients with severe HIE presented greater hemodynamic, respiratory, and hepatic involvement. Conclusions: Neonates with severe HIE present increased serum creatinine levels and greater multi-organ involvement than those with moderate HIE.

A família faz parte da equipe: ampliando o diálogo sobre a presença dos pais no esporte / The family is part of the team: expanding the dialogue about the presence of parents in sports / La familia forma parte del equipo: ampliar el diálogo so-bre la presencia de los padres en el deporte

A presença dos pais em ambientes esportivos é apontada como de grande influência na participação esportiva dos filhos. Contudo, mais do que intervir na trajetória dos filhos, os pais precisam lidar com demandas específicas do esporte que, ao mesmo tempo, influenciam diretamente a maneira como genitores oferecem suporte. Embora a agenda investigativa internacional ofereça contribuições sobre o envolvimento parental, as evidências ainda são pouco sistematizadas no cenário de investigação esportiva nacional. Diante do exposto, o objetivo foi apresentar o papel da família e dos pais como parte de um sistema esportivo integrado baseados na mútua influência dos indivíduos.

The presence of parents in sporting environments is pointed out as having a significant influence on the sport participation of their children. However, more than influencing the trajectory of their children, parents need to deal with specific demands of sports that, at the same time, directly affect how they offer support. Although the international research agenda contributes to parental development, the evidence is still little systematized in the national sports research scenario. Given the above, the aim was to present the role of family and parents as part of an integrated sport system based on the mutual influence of individuals.

Se señala que la presencia de los padres en entornos deportivos tiene una gran influencia en la participación deportiva de sus hijos. Sin embargo, más que influir en la trayectoria de sus hijos, los padres necesitan lidiar con demandas específicas del deporte que, al mismo tiempo, influyen directamente en la forma en que ofrecen apoyo. Aunque la agenda investigativa internacional ofrezca contribuciones sobre el desarrollo parental, las evidencias aún están poco sistematizadas en el escenario de la investigación deportiva nacional. Teniendo en cuenta lo anterior, el objetivo fue presentar el papel de la familia y los padres como parte de un sistema deportivo integrado basado en la influencia mutua de los individuos.

Enfermedad relacionada con IgG4, enfermedad de Erdheim Chester y compromiso aórtico y/o sus ramas. Diagnóstico diferencial con otras vasculitis de grandes vasos / IgG4 related disease, Erdheim Chester disease and aortic involvement and/or its branches. Differential diagnosis with other large vessel vasculitis

La afección cardiovascular en entidades como Erdheim-Chester (EEC), una rara histiocitosis de células no Langerhans, y la enfermedad relacionada con IgG4 (ER-IgG4), una afección fibrinoinflamatoria inmunomediada, es muy variada y habitualmente asintomática hasta su progresión a daños irreversibles cuando no es sospechada. Ante la dificultad de realizar biopsias por el sitio anatómico, es fundamental valerse de características clínicas, demográficas o imagenológicas que puedan diferenciarlas de otras entidades, como las arteritis de grandes vasos. La población masculina, los mayores de 60 años con compromiso a nivel de la aorta abdominal infrarrenal o aneurismas a nivel de la aorta ascendente con o sin compromiso de otros órganos, son orientativos de ER-IgG4. En la EEC es característico el tejido blando concéntrico que recubre la aorta (aorta recubierta) y sobre todo ante la presencia de fibrosis retroperitoneal, compromiso de huesos largos, hidronefrosis, lesión renal aguda posrrenal e hipertensión arterial, existencia de tejido fibrótico perirrenal, engrosamiento de la fascia renal y tejido adiposo perirrenal (signo del riñón peludo).

Cardiovascular disease in entities such as Erdheim-Chester (ECD), a rare non-Langerhans cell histiocytosis, and IgG4-related disease (ER-IgG4), an immunemediated fibrinoinflammatory disease, is highly varied and usually asymptomatic until it progresses to irreversible damage if they are not taken into account. Given the difficulty of performing biopsies by the anatomical site, it is essential to use clinical, demographic or imaging characteristics that can differentiate them from other entities such as large vessel arteritis. Male population, over 60 years of age with involvement of the infrarenal abdominal aorta or aneurysms at the level of the ascending aorta with or without involvement of other organs, are indicative of ER-IgG4. In ECD, the concentric soft tissue covering the aorta (covered aorta) is characteristic, and especially in the presence of retroperitoneal fibrosis, involvement of long bones, hydronephrosis, post-renal acute kidney injury and arterial hypertension, the presence of perirenal fibrotic tissue, thickening of the renal fascia, perirenal adipose tissue (hairy kidney sign).

Advances in cardiac involvement in children with Duchenne muscular dystrophy / 国际儿科学杂志

Duchenne muscular dystrophy(DMD)is an X-linked recessive muscular disorder that affects mainly males.With its low incidence, insidious onset, and rapid progression, DMD is characterized by proximal muscle weakness, gastrocnemius hypertrophy, and markedly elevated serum creatine kinase.In addition to severe motor dysfunction, it also causes cardiac involvement in children, mainly manifested as dilated cardiomyopathy and arrhythmias.The mutations of DMD gene lead to the absence of dystrophin, which results in cytoskeletal defects and the impairment of the integrity of myocardial cell membrane.Meanwhile, calcium overload makes the myocytes more susceptible to damage.Exon deletion is the most common type of gene mutations in children with DMD, followed by point mutations, duplications and small insertion or deletion.The relationship among the clinical manifestations, pathogenesis, evaluation of cardiac damage in DMD and its genotype has not been clarified, which still needs further research and exploration, although some advances have been made recently.

Study on the current situation and influencing factors of job involvement for employed nurses in military hospital / 中华劳动卫生职业病杂志

Objective: To investigate the current situation of job involvement of nurses in military hospitals in Henan Province and analyze the influencing factors, so as to provide reference for improving the level of job involvement of military nurses. Methods: In February 2022, the employed nurses of 4 military hospitals in Henan Province were investigated by convenient sampling method. A total of 663 questionnaires were collected, including 632 valid questionnaires, with an effective recovery rate of 95.32%. The self-designed questionnaire was used to investigate the basic information of nurses, the Job Involvement Scale was used to investigate the job involvement of nurses, the Emotional Labor Scale for Nurses was used to investigate nurses' emotions, and the Work-Family Conflict Scale was used to investigate the work-family conflict of nurses. Independent sample t-test and univariate analysis of variance were used to compare the job involvement of military employed nurses with different demographic characteristics, Pearson correlation analysis was used to explore the correlation between emotional labor, work-family conflict and job involvement, and hierarchical regression analysis was used to explore the impact of relevant variables on the job involvement of military employed nurses. Results: The total average score of job involvement of military employed nurses was (3.68±1.13), and the scores of vitality, dedication and focus were (3.64±1.15), (3.74±1.25) and (3.67±1.21) respectively. The total score of emotional labor of nurses was 33-80 (62.95±8.12), with an average score of (3.93±0.51). The total score of work-family conflict was 18-94 (55.16±13.53), with an average score of (3.06±0.75). Professional emotional regulation, patient-centered emotional inhibition and standardized emotional play were positively related to the job involvement (r=0.46, 0.41, 0.22, P<0.01). Time-based conflict, stress-based conflict and behavior-based conflict had negative correlation with the job involvement (r=-0.12, -0.23, -0.20, P<0.01). In hierarchical regression analysis, after controlling demographic variables, emotional labor and work-family conflict accounted for 17.2% and 4.2% of the variation of job involvement. Conclusion: The job involvement of military employed nurses tends to be at a moderate level. Emotional labor and work-family conflict can significantly affect their job involvement.

The use of high-sensitivity cardiac troponin I in assessing cardiac involvement and Disease prognosis in idiopathic inflammatory myopathy

Abstract Objectives Cardiac involvement is one of the most serious complications of idiopathic inflammatory myopathy (IIM) that indicates poor prognosis. However, there is a lack of effective biomarkers for the identification of cardiac involvement and the prediction of prognosis in IIM. Here, we aimed to explore the value of different cardiac biomarkers in IIM patients. Methods A total of 142 IIM patients in the Department of Rheumatology and Immunology, Ruijin Hospital from July 2019 to October 2022 were included in this study. The clinical characteristics, laboratory tests, treatments and prognosis were recorded. The disease activity was assessed according to the core set measures. The correlations of the serum cardiac biomarkers levels with disease activity were analyzed by the Spearman correlation test. Risk factors for cardiac involvement were evaluated by multivariate logistic regression analysis. Results Higher high-sensitivity cardiac troponin I (hs-cTnI) levels were associated with cardiac involvement (n = 41) in IIM patients [adjusted OR 7.810 (95% CI: 1.962-31.097); p = 0.004], independent of other serum cardiac biomarkers. The abnormal hs-cTnI had the highest AUC for distinguishing of cardiac involvement in IIM patients (AUC = 0.848, 95% CI: 0.772,0.924; p < 0.001). Besides, we found that high serum levels of hs-cTnI were significantly correlated with disease activity. Moreover, patients with higher serum levels of hs-cTnI tended to suffer from poor prognosis. Conclusions Serum hs-cTnI testing may play a role in screening for cardiac involvement in IIM patients. Abnormal levels of serum hs-cTnI were associated with increased disease activity and poor prognosis. Key Points Among all the cardiac biomarkers, the serum levels of hs-cTnI were independently associated with cardiac involvement in IIM patients. The serum levels of hs-cTnI were significantly correlated with disease activity in IIM patients. The abnormal hs-cTnI levels were correlated with poor prognosis in IIM patients.

Translation of the Involvement Matrix tool into Brazilian Portuguese / Tradução da ferramenta Involvement Matrix para o português brasileiro

Abstract Introduction Patient and public involvement has numerous benefits for research; however, there are challenges to its implementation, such as the lack of tools to guide participant engagement in research. The Involvement Matrix (IM) is a tool that facilitates discussion about the role that participants play in research projects, promoting more active public involvement. Objective To translate IM materials into Brazilian Portuguese in order to facilitate their use and guide researchers. Methods Authorization to translate the original material into Brazilian Portuguese was obtained from the authors. Next, the translated material underwent backtranslation. The resulting version was verified by the original IM authors, ensuring semantic and content accuracy. Results The Involvement Matrix (IM) was translated into Portuguese and then backtranslated into English. The researchers discussed the translated version with the IM authors, with minimal adjustments needed in the backtranslation, and no changes made to the Portuguese version. After the approval of the final Brazilian Portuguese version, the translated tools were made available, including a Practical Guide, a Word Version, a Checklist, a Fact Sheet, an Overview with Examples, and an Animated Video with Brazilian Portuguese subtitles. Conclusion The various IM materials are adequately translated and freely available for use in Brazil. It is a valuable tool to guide public and patient involvement in research.

Resumo Introdução O envolvimento do paciente e do público traz diversos benefícios para a pesquisa, no entanto, existem desafios para sua implementação, como a falta de ferramentas que orientem o engajamento dos participantes em pesquisas que os envolvem. A Involvement Matrix (IM) é uma ferramenta que facilita o diálogo sobre o papel que o participante da pesquisa deseja desempenhar em projetos de pesquisas pro-movendo um envolvimento mais ativo desse público. Objetivo Traduzir os materiais da IM para o português brasileiro, a fim de disponibilizar seu uso no Brasil e ori-entar pesquisadores. Métodos Solicitou-se autorização aos autores do instrumento original para traduzi-lo para o português brasileiro. Em seguida, o material traduzido passou por um processo de retrotradução. O resultado foi verificado pelos autores da IM, garantindo a precisão semântica e de conteúdo. Resultados A Matriz de Envolvimento (ME) foi traduzida para o português e retrotraduzida ao inglês. Posteriormente, os pesquisadores da versão brasileira realizaram uma reunião com os autores da ME para esclarecer dúvi-das, havendo a necessidade de mínimos ajustes na retrotradução, sem mudanças da versão em português. Após a aprovação da versão final em português brasi-leiro, foram disponibilizadas as ferramentas traduzidas: um Guia Prático, uma Versão em Word, uma Lista de Verificação, uma Ficha Técnica, uma Visão Geral com Exemplos e um Vídeo Animado legendado em português brasileiro. Conclusão Os diversos materiais da ME estão adequadamente traduzidos e disponíveis gratuitamente para uso no Brasil. Trata-se de uma ferramenta valiosa para guiar o envolvimento do público e do paciente em pesquisas.

Envolvimiento parental en la escuela: perspectivas de padres e hijos / Envolvimento parental na escola: perspetivas de pais e filhos / Parental involvement in school: parents' and students' perceptions

RESUMO O envolvimento parental na escola é um construto que engloba diferentes comportamentos e atitudes, de carácter multidimensional, envolvendo todas as práticas parentais desenvolvidas pela família, desde os bons hábitos de estudo e a comunicação com a escola, até iniciativas que visam o sucesso escolar dos filhos. Os objetivos do presente estudo foram analisar as perceções, tanto de pais como dos filhos, sobre o envolvimento dos pais no contexto escolar dos filhos e comparar a perceção de pais e filhos sobre esse aspeto. Participaram neste estudo 526 famílias e utilizou-se o Questionário de Envolvimento Parental para recolha de dados. Pais e alunos descreveram um elevado envolvimento parental no contexto escolar. Todavia, verificou-se a existência de diferenças significativas entre as duas perspetivas. Estes resultados possibilitam uma reflexão sobre as tendências, desafios e implicações deste conceito, sendo discutidas as suas implicações para a prática e para a investigação.

RESUMEN El envolvimiento parental en la escuela es un constructo que engloba distintos comportamientos y actitudes, de carácter multidimensional, abarcando todas las prácticas parentales desarrolladas por la familia, desde los buenos hábitos de estudio y la comunicación con la escuela, hasta iniciativas que tengan el objetivo el éxito escolar de los hijos. Los objetivos del presente estudio fueron analizar las percepciones, de padres y de los hijos, sobre el envolvimiento de los padres en el contexto escolar de los hijos y comparar la percepción de padres e hijos sobre ese aspecto. Participaron en este estudio 526 familias y se utilizó el Cuestionario de Envolvimiento Parental para la recolecta de datos. Padres y alumnos describieron un elevado envolvimiento parental en el contexto escolar. Sin embargo, se percibió la existencia de diferencias significativas entre las dos perspectivas. Estos resultados posibilitan una reflexión sobre las tendencias, desafíos e implicaciones de este concepto, siendo discutidas sus implicaciones para la práctica y para la investigación.

ABSTRACT Parental involvement at school is a construct that encompasses different behaviours and attitudes. Being multidimensional, it involves all the parental practices developed by the family, from study habits and communication with the school to initiatives aimed at the child's success at school. This study aims to analyse not only parents' perceptions of their own involvement with their children's school, but also their children's perceptions of their involvement with their school. It also explores the comparison between parents' and children's perceptions of perceived parental involvement. A total of 526 families took part in this study and the data was collected using the Parental Involvement Questionnaire. Both parents and children perceived a high level of parental involvement with the school, but there were significant differences between their perceptions. These results make it possible to reflect on the trends, challenges and implications of this concept, presenting the implications for practice and research.

Pandemia no brasil, negacionismo e resistência: quem sobreviverá? o caso de camalaú / Pandemic in brazil, denialism and resistance: who will survive? the case of camalaú / Pandemia en brasil, negacionismo y resistencia: ¿quién sobrevivirá? el caso de camalaú

RESUMO Os desafios da pandemia por COVID-19 são bem conhecidos: sistema de saúde em colapso, óbitos, enlutamento, medo e disputas ideológicas. No Brasil, o manejo da pandemia foi marcado pelo negacionismo sociopolítico, que remete à questão: Quem sobreviverá? Escolhemos discutir o caso da comunidade nordestina de Camalaú (PB) para analisar socionomicamente as estratégias de enfrentamento e as ações coletivas utilizadas por sua rede sociocomunitária. Foram realizadas entrevistas e construído um mapa da rede sociocomunitária de suporte à população, as quais foram analisadas com interseções nas teorias de redes. Foi possível conhecer os impactos sociais da vivência pandêmica, em contexto de negacionismo, por um povo do Cariri nordestino que sobreviveu pela força da rede, o qual mostrou suas vias de resistência revelando uma história que merece ser contada.

ABSTRACT The challenges of the COVID-19 pandemic are well known: a collapsing health system, deaths, bereavement, fear and ideological disputes. In Brazil, the handling of the pandemic was marked by sociopolitical denialism, which refers to the question: Who shall survive? We chose to discuss the case of the northeastern community of Camalaú (Paraíba state) to socionomically analyze the coping strategies and collective actions used by its sociocommunity network. Interviews were carried out and a map of the sociocommunity support network for the population was constructed, which were analyzed with intersections in network theories. It was possible to know the social impacts of the pandemic experience, in a context of denial, by people from northeastern Cariri, which survived by the force of the network, and showed their ways of resistance revealing a story that deserves to be told.

RESUMEN Los desafíos de la pandemia de COVID-19 son bien conocidos: un sistema de salud colapsado, muertes, duelo, miedo y disputas ideológicas. En Brasil, el manejo de la pandemia estuvo marcado por el negacionismo sociopolítico, que se refiere a la pregunta: ¿Quién sobrevivirá? Optamos por discutir el caso de la comunidad nororiental de Camalaú (PB) para analizar socionómicamente las estrategias de enfrentamiento y las acciones colectivas utilizadas por su red sociocomunitaria. Se realizaron entrevistas y se construyó un mapa de la red de apoyo sociocomunitario a la población, las cuales fueron analizadas con intersecciones en las teorías de redes. Fue posible conocer los impactos sociales de la experiencia de la pandemia, en un contexto de negación, por parte de un pueblo del noreste de Cariri, que sobrevivió por la fuerza de la red, que mostró sus caminos de resistencia revelando una historia que merece ser contada.

MRI cortical thickness of bulbar region and impacts on survival in amyotrophic lateral sclerosis patients / 西安交通大学学报(医学版)

【Objective】 To investigate cortical thickness changes in the face-head region of the primary motor cortex (PMC) and its effect on survival in amyotrophy lateral sclerosis (ALS) patients. 【Methods】 A retrospective analysis was performed on 105 ALS patients who underwent head MRI scan at the same time. The A4hf (face-head) region of PMC was used as the region of interest (ROI). According to clinical symptoms, patients were divided into two groups: bulbar involvement and non-bulbar involvement. The differences of clinical features and cortical thickness in ROI were analyzed. According to the symptoms of bulbar palsy, physical examination of nervous system and EMG of tongue muscle, the patients with bulbar palsy were divided into lower motor neuron (LMN), upper motor neuron (UMN) and LMN+UMN groups. The differences of bulbar subgroup score and ROI of cortical thickness were analyzed. Age at onset, body mass index, delayed time of diagnosis, bulbar subgroup score, and ROI cortical thickness were included in survival analysis. 【Results】 ① The ROI cortical thickness was significantly lower in bulbar involvement group than non-bulbar involvement group (-0.198±0.87 vs. 0.235±0.95, P=0.017). ② There were no significant differences in the bulbar subgroup scores or cortical thickness of ROI between LMN, UMN and LMN+UMN groups (P>0.05). ③ Survival analysis showed age of onset (HR=3.296, 95% CI:1.63-6.664, P=0.001), delayed time of diagnosis (HR=0.361, 95% CI:0.184-0.705, P=0.003), bulbar subgroup score (HR 0.389, 95% CI:0.174-0.868, P=0.021), and ZRE_ROI cortical thickness (HR=2.309, 95% CI:1.046-5.096, P=0.038) were independent influencing factors of ALS survival. 【Conclusion】 Cortical thickness in A4hf (face-head) region can more objectively reflect UMN signs of region bulbar. In addition to age of onset and delayed time of diagnosis, bulbar subgroup score and cortical thickness of face-head region are also independent influencing factors, and cortical thinning in face-head region is a protective factor for survival of ALS patients.

Fabry Disease Cardiac Involvement: Strengthen the Understanding of Early Diagnosis and Treatment / 罕见病研究

Fabry disease is an X-linked inherited lysosomal storage disorder caused by mutations of the GLA gene, resulting in the decreased a-galactosidase A activity and the accumulation of its substrate globotriasylceramide (GL-3) in the heart, kidney and other organs. The main clinical manifestations of cardiac involvement in Fabry disease are left ventricular hypertrophy (LVH), myocardial fibrosis, heart failure and arrhythmia, which limit quality of life and represent the most common causes of death. Following the development of enzyme activity and genetics testing, diagnosis of Fabry disease is no longer difficult. The application of enzyme replacement therapy (ERT) has also significantly slow disease progression. Therefore, early diagnosis and treatment have become essential in the management of Fabry disease cardiac involvement. Electrocardiogram, echocardiography and cardiac magnetic resonance(CMR) allow early detection of suspected patients. In addition, with the approval of oral chaperone therapy and substrate reduction therapy, the Fabry disease specific treatment landscape is evolving. This article will review the general features, pathophysiology, diagnosis and treatment of Fabry disease with cardiac involvement.

Clinical features and prognosis analysis of 31 cases of extramedullary plasmacytoma of the head and neck / 中华放射肿瘤学杂志

Objective:To investigate the clinical features, treatment options and prognostic factors of extramedullary plasmacytoma of the head and neck.Methods:Clinical data of 31 cases of extramedullary plasmacytoma of the head and neck treated in Eye Ear Nose and Throat Hospital of Fudan University from January 2005 to January 2020 were retrospectively analyzed. According to the involvement sites, the lesions were divided into the Waldeyer's ring involvement and non-involvement groups. The differences between two groups were compared by one-way ANOVA. The overall survival (OS) was analyzed by Kaplan-Meier method. The OS rate and local recurrence free survival (LRFS) rate between two groups were compared by log-rank test.Results:All 31 patients received radiotherapy. The median follow-up time was 98 months (7-192 months). Among them, 16 patients received radiotherapy and surgery, 10 patients received radiochemotherapy, and 2 patients received surgery and radiochemotherapy. Waldeyer's ring involvement was found in 15 patients, and Waldeyer's ring was not involved in 16 patients. The 10-year OS rate was 84.8%. Two cases showed local recurrence and 2 cases progressed to multiple myeloma. The 10-year OS rate in patients ≤55 years old was 100% vs. 67% in those >55 years old ( P=0.039). The 10-year OS rates in patients with and without Waldeyer's ring involvement were 93.3% vs. 75.2% ( P=0.031). The 10-year LRFS rate in patients with Waldeyer's ring involvement was 100% vs. 66.7% in those without Waldeyer's ring involvement ( P=0.022). The 10-year OS rate was 95% and 35.7% for patients with longest diameter of tumor ≤5 cm and >5 cm before radiotherapy, respectively ( P=0.02). Conclusions:Extramedullary plasmacytoma of the head and neck patients with longest diameter of tumor ≤5 cm obtain higher 10-year OS rate. Those with Waldeyer's ring involvement have better 10-year OS and LRFS rates.

Classification of furcation involvement of endodontically treated mandibular first permanent molars based on cone beam CT / 口腔疾病防治

Objective @#To classify the furcation involvement (FI) of endodontically treated mandibular first permanent molars based on cone beam computed tomography (CBCT), provide reference for individualized treatment of FI. @*Methods@#CBCT images of the FI of 164 endodontically treated mandibular first permanent molars from 163 patients in Nanjing Stomatological Hospital, Medical School of Nanjing University were collected retrospectively. On the CBCT images, the shape and extent of periapical and periodontitis bone resorption, the thickness of residual dentin in the pulp floor and root canal wall, and the periodontal bone resorption of the complete dentition were evaluated. The FI was classified into periodontal, periapical, perforated and mixed types.@* Results@#Among the 164 FIs of endodontically treated mandibular first permanent molars, the periapical type was the most common (41.5%), followed by the mixed type (26.2%), perforated type (18.3%), and periodontal type (14.0%). Among the 68 periapical-type FIs of endodontically treated mandibular first permanent molars, 48.5% were proper root canal filling, 44.1% were insufficient filling and 7.4% were overfilling. Among the 43 mixed-type FIs, the periodontal mixed periapical type was the most common (72.1%).@*Conclusion @#Detailed evaluation and classification of furcation involvement could be performed using CBCT images; therefore, the study has guiding significance for clinical treatment.

Tumor budding is a valuable prognostic parameter in endometrial carcinomas

Background: Tumor budding (TB) is a morphological finding believed to play an important role in determining the prognosis in many cancers. Aim: Our aim is to evaluate the prognostic importance of TB in endometrial carcinomas. Settings and Design: Two-hundred-eleven endometrial cancers were obtained from 2008 to 2015 that were comprised of those having undergone surgical staging with a hysterectomy and at least 5 years followed up. Material and Methods: All hematoxylin and eosin stained slides were reevaluated for the status of TB. Statistical Analysis: Nonparametric tests, the Kaplan–Meier method, the Log-rank test, and Cox proportional hazard regression were used. Results and Conclusion: TB was found to correlated with larger diameter (P = 0.000), nonendometrioid (P = 0.038), mixed cell types (P = 0.005), higher grade (P = 0.000), deeper invasion of the myometrium (P = 0.000), cervical stromal invasion (P = 0.000), advanced pT (P = 0.011), lymph node involvement (P = 0.000), lymphovascular invasion (P = 0.000), and advanced stage (P = 0.000). The presence of TB worsens the 5-year overall survival (OS) (P = 0.0001). In cases such as grade 1, pT1, or stage 1 endometrial carcinomas, the presence of TB decreases the OS rate (P = 0.00017, P = 0.0016, P < 0.0001). Our result suggested that the presence of TB adversely affects the prognosis. It was concluded that TB could be a valuable prognostic parameter.

Manifestaciones pulmonares de la artritis reumatoide, una revisión en tiempos de pandemia por SARS-CoV-2 / no

La artritis reumatoide (AR) es una de las patologías crónicas de origen autoinmune más frecuentes. Su prevalencia varía del 0,5 al 1%, con un compromiso primario a nivel articular, generando gran discapacidad por las deformidades secundarias derivadas de un estado inflamatorio persistente. Considerando el alto impacto en la calidad de vida de quienes la padecen, sumado al alto costo de las intervenciones terapéuticas, se vuelve imperativo para el personal de salud sumar todos los esfuerzos para promover un diagnóstico temprano y reconocer las potenciales complicaciones con el fin de impactar positivamente en los desenlaces clínicos. Alrededor del 50% de los pacientes con AR pueden tener compromiso extra articular, siendo el pulmón uno de los órganos más afectados. En época de pandemia por el virus SARS-CoV-2 es necesario recordar los tipos de compromiso pulmonar en pacientes con AR y tener en cuenta la susceptibilidad de estos pacientes a cuadros infecciosos que pueden generar una gran morbimortalidad.

Rheumatoid arthritis (RA) is one of the most frequent chronic autoimmune pathologies. It's prevalence varies from 0.5 to 1%, with a primary involvement at the joint, generating disability due to deformities secondary to persistent inflammation. Considering the high impact on the quality of life of those who suffer it, added to the high cost of therapeutic interventions, it becomes imperative for health personnel to join forces to promote early diagnosis and recognize potential complications, in order to impact positively on clinical outcomes. Around 50% of patients with RA may have extra-articular involvement, the lung being one of the most affected organs. In times of SARS-CoV-2 pandemic, it's necessary to remember the types of lung involvement in patients with RA and take into account the susceptibility of these patients to infectious conditions that can generate great morbidity and mortality.

Kawasaki disease in Colombia: A systematic review and contrast with multisystem inflammatory syndrome in children associated with COVID-19

Introduction: Kawasaki disease (KD) is an acute vasculitis with multisystem involvement. Recently, the increasing incidence of a condition that closely resembles KD in many cases, named multisystem inflammatory syndrome in children (MIS-C), has set off alarms amid the current worldwide coronavirus disease-19 (COVID-19) pandemic. Hence, the aim is to conduct a systematic review of the literature about KD in Colombia and contrast it with COVID-19-related MIS-C. Materials and methods: A search was carried out in both international and Latin American electronic databases for publications concerning patients with KD in the Colombian population. Records were then screened by titles and/or abstracts, assessed for eligibility, and reviewed. Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines were followed. The search included studies reporting MIS-C associated with COVID-19, and compared these patients with our findings of KD in Colombia. Results: Out of 36 publications retrieved, 17 were included, representing 120 individuals. Male to female ratio was 1.6, and most patients (90.4%) were aged 5 years or less. Among the main features of KD, fever was the most frequent (96.2% of the patients), while cervical lymphadenopathy was present in only 40.6%. Intravenous immunoglobulin was administered in 91.4% cases and 6.2% were resistant. Cardiac involvement was found in around 30%, and 20% had coronary artery lesions. Comparison between MIS-C associated with COVID-19 and KD in Colombia indicates that patients affected by MIS-C were older (72.2% of MIS-C patients > 5 years), had higher rates of cardiac involvement, and required critical care more often. Conclusions: Our findings of KD in Colombia are consistent with the available descriptions of KD in the scientific literature. Given the increasing rate of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infection in Colombia and Latin America, our study raises awareness about MIS-C in pediatric patients with COVID-19 and its relationship with KD.

Introducción: La enfermedad de Kawasaki (EK) es una vasculitis aguda con compromiso multisistémico. Recientemente, la incidencia creciente de una condición que se asemeja en forma considerable a la EK en muchos casos, denominada síndrome inflamatorio multisistémico (SIMS) en niños, ha encendido las alarmas en medio de la actual pandemia mundial de la enfermedad COVID-19. Por consiguiente, nos propusimos realizar una revisión sistemática de la literatura acerca de la EK en Colombia y contrastarla con el SIMS relacionado con COVID-19 en niños. Materiales y métodos: Buscamos publicaciones respecto a pacientes con EK en población colombiana, en bases de datos electrónicas tanto internacionales como latinoamericanas. Los registros hallados fueron tamizados por títulos o resúmenes, evaluados para elegibilidad y revisados. Se siguieron las guías Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA). Posteriormente, buscamos estudios que reportaran SIMS temporalmente asociado con COVID-19 en niños y comparamos estos pacientes con nuestros hallazgos de EK en Colombia. Resultados: De 36 publicaciones encontradas se incluyeron 17, las cuales representaron 120 individuos. La razón hombre a mujer fue de 1,6 y la mayoría de los pacientes (90,4%) tenía 5 anos o menos. Entre las principales características de EK, la fiebre fue la más frecuente (96,2%), mientras que la linfadenopatía cervical estuvo presente solo en el 40,6%. La inmunoglobulina intravenosa se administró en el 91,4% de los casos y 6,2% presentaron resistencia. Se encontró compromiso cardiaco en alrededor del 30% de los pacientes, en tanto que el 20% tuvo lesiones de arterias coronarias. La comparación entre las características clínicas de la EK y el SIMS asociado a COVID-19 mostró que los individuos afectados por el SIMS eran mayores (72,2% con SIMS tenían más de cinco anos), tuvieron mayores índices de compromiso cardiaco y requirieron cuidado crítico con mayor frecuencia. Conclusiones: Nuestros hallazgos de EK en Colombia son consistentes con las descripciones disponibles de esta enfermedad en la literatura científica. Debido al aumento de infección por SARS-CoV-2 en Colombia y Latinoamérica, nuestro estudio busca crear conciencia sobre el SIMS en pacientes pediátricos con COVID-19 y su relación con la EK.

Distrofia muscular de Duchenne, una causa infrecuente de miocardiopatía dilatada / Duchenne muscular dystrophy, a rare cause of dilated cardiomyopathy

Neuromuscular diseases represent a rare cause of dilated myocardiopathy, among them Duchenne muscular dystrophy is the most common. Transthoracic echocardiography and cardiac magnetic resonance imaging can assess cardiac involvement early. The case of a patient diagnosed with Duchenne muscular dystrophy who develops cardiac involvement during cardiology follow-up is presented below.