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Objective To investigate the effect of antinuclear antibodies(ANAs)on hormone response in patients with autoimmune hepatitis(AIH)-primary biliary cholangitis(PBC)overlap syndrome(AIH-PBC OS)and AIH-only within half a year.Methods A retrospective analysis of 77 patients with autoimmune liver disease(AILD)admitted to First Clinical Medical College of Lanzhou University from January 2018 to December 2021,all of whom were confirmed by liver biopsy and receiving glucocorticoid treatment.Among them,46 patients were in AIH-PBC OS group and 31 were in AIH-only group.The general clinical characteristics,liver puncture-related indexes,autoantibodies and immunoglobulin indexes of patients in each group at the time of diagnosis were collected and compared,and the biochemical and immunoglobulin indexes of patients at the time of hormone use and at the time of review within 6 months were also collected,and the hormone response within 6 months was evaluated according to the levels of glutamic transaminase(AST),glutamic alanine transaminase(ALT)and immunoglobulin G(IgG),and the effect of ANAs on hormone response outcomes in both groups over a six-month period was analyzed.Multifactorial ordered logistic analysis was performed to evaluate the effect of ANAs on hormone response between two groups.Results There was no statistically significant difference in the percentage of AIH-PBC OS and AIH-only patients among both ANAs-positive and-negative AILD patients(55.6%vs.44.4%and 65.6%vs.34.4%,P>0.05).Among 46 patients with AIH-PBC OS,there were 25 in ANAs-positive group and 21 in ANAs-negative group.The rate of complete hormone response within 6 months was lower than that of ANAs-negative group(44.0%vs.76.2%),while the rate of hormone non-response was higher than that of ANAs-negative group(20.0%vs.0),and the difference was statistically significant(P<0.05).There were 20 cases of ANAs-positive and 11 cases of ANAs-negative in the 31 AIH-only patients.There was no statistically significant difference in the results of hormone response within 6 months between the two groups(P>0.05).Multifactorial ordered logistic analysis showed that AIH-PBC OS patients were more likely to have a higher likelihood of 6-month hormone non-response rate in ANAs-positive patients,and the difference was statistically different(P<0.05).And there was no significant effect of ANAs type on hormone response outcome in AIH-only patients(P>0.05).Conclusion AIH-PBC OS ANAs-positive patients have a poor hormone response within half a year.In AIH-only patients,ANAs have no significant effect on hormone response results.
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The paper reported a case of a young male patient, with graft-versus-host disease (GVHD) multi-organ involvement lesions after allo-hematopoietic stem cell transplantation. The patient had diverse clinical manifestations, and overlapping acute and chronic disease processes. Acute GVHD were mainly hyperbilirubinemia, with or without elevated transaminase, bloody watery stools; chronic GVHD were highlighted by extensive skin depigmentation, oral mucosal ulcer, sick nails, etc., and chronic signs, such as membranous nephropathy, polyserositis and pulmonary restrictive ventilatory insufficiency. The diagnosis of chronic GVHD mainly relies on medical history combined with clinical manifestations, and it's needed to exclude infections, drugs and tumors. Besides, the rate of missed diagnosis and misdiagnose is high, and it requires multidisciplinary diagnosis and treatment. Combined with the literature review, it indicates that there is a greater risk of GVHD in the male recipient with female donor, and peripheral blood stem cell transplant patients have a higher incidence than bone marrow transplant patients after hematopoietic stem cell transplantation, but the effect of the graft-versus-leukemia exists. Currently, glucocorticoids therapy with or without calcineurin inhibitors are the first-line treatment for GVHD, but the overall prognosis is poor.
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Background: The coexistence of obstructive sleep apnea (OSA) and chronic obstructive pulmonary disease (COPD) is termed “Overlap syndrome (OS).” Objectives: The present study aimed at estimating the prevalence of OS among patients diagnosed with OSA. Methods: It was a prospective observational study conducted on patients presenting to respiratory medicine outpatient department (sleep clinic) with symptoms of sleep-disordered breathing and was found to have OSA by overnight polysomnography. These patients were then subjected to spirometry to diagnose COPD. Results: The prevalence of OS in the study population was found to be 41.3%. Excessive daytime sleepiness was found to be higher in overlap group patients (P = 0.033), the difference was statistically significant. The mean age (59.9 ± 9.6 years) was found to be high in the OS group compared to those without the same. The mean forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC), and FEV1/FVC (pre? and postbronchodilator) spirometry parameters were found to be lower in patients with OS. Conclusion: The study showed that the prevalence of OS in the present study was 41.3%. Excessive daytime sleepiness and age >60 years were risk factors for OS in a patient with OSA. OS patients had lower pulmonary function values.
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ABSTRACT Introduction: Chronic obstructive pulmonary disease (COPD) is one of the most common diseases in the lungs. Objective: To evaluate the clinical effect of respiratory rehabilitation training combined with Traditional Chinese and western medicine on the clinical treatment of motor function in patients with COPD. Methods: 156 patients with chronic obstructive pulmonary disease admitted to a hospital from December 2013 to June 2015 were selected as study subjects and randomly divided into groups for treatment. Results: comparing blood gas exchange rates of patients in the four groups, the experimental group, trained using integrated Chinese and Western medicine, was significantly better than the control groups A, B and C, in aspects such as PaCO2, PaO2, SaO2, pH, etc., the difference was statistically significant (p < 0.05). The improvement of lung function in the experimental group was significantly better than in the other three groups, with statistical significance (p < 0.05). Conclusions: Applying Chinese and Western Medicine combined with comprehensive respiratory rehabilitation training has a significant clinical effect. It effectively improved patients' related clinical indicators and should be widely promoted. Level of evidence II; Therapeutic studies - investigation of treatment results.
RESUMO Introdução: A doença pulmonar obstrutiva crônica (DPOC) é uma das doenças pulmonares mais comuns. Objetivo: Avaliar os efeitos clínicos de treino para reabilitação respiratória somado ao uso de medicina ocidental e medicina tradicional chinesa combinadas, no tratamento da função motora de pacientes com DPOC. Métodos: 156 pacientes com DPOC, hospitalizados entre dezembro de 2013 e junho de 2015, foram selecionados como objetos de estudo e aleatoriamente divididos em grupos de tratamento. Resultados: Quanto aos níveis de troca gasosa dos pacientes nos quatro grupos, o grupo experimental, treinado por meio de práticas de medicina ocidental e de medicina tradicional chinesa combinadas teve uma performance significativamente melhor que a dos grupos A, B, e C, em aspectos tais como PaCO2, PaO2, SaO2, pH, etc., com significância estatística (p<0,05). A melhoria da função pulmonar no grupo experimental também foi significativamente maior que nos outros grupos, mais uma vez com significância estatística (p<0,05). Conclusões: A aplicação da medicina chinesa e da medicina ocidental combinadas, somadas a um treino de reabilitação respiratória abrangente, teve um efeito clínico significativo, efetivamente melhorando indicadores clínicos relevantes. Tal aplicação deveria ser largamente promovida. Nível de evidência II; Estudos terapêuticos - investigação de resultados de tratamento.
RESUMEN Introducción: La enfermedad pulmonar obstructiva crónica (EPOC) es una de las enfermedades pulmonares más comunes. Objetivo: Evaluar los efectos clínicos de entrenamiento para rehabilitación respiratoria sumado al uso de medicina occidental y medicina tradicional china combinadas en el tratamiento de la función motora de pacientes con EPOC. Métodos: 156 pacientes con EPOC, hospitalizados entre diciembre de 2013 y junio de 2015, fueron seleccionados como objetos de estudio y aleatoriamente divididos en grupos de tratamiento. Resultados: En cuanto a los niveles de intercambio gaseoso de los pacientes de los cuatro grupos, el grupo experimental, entrenado mediante prácticas combinadas de medicina occidental y medicina tradicional china, obtuvo un rendimiento significativamente mejor que los grupos A, B y C, en aspectos como PaCO2, PaO2, SaO2, pH, etc., con significancia estadística (p<0,05). La mejora de la función pulmonar en el grupo experimental también fue significativamente mayor que en los otros grupos, una vez más con significancia estadística (p<0,05). Conclusiones: La aplicación de la medicina china y de la medicina occidental combinadas, sumadas a un entrenamiento de rehabilitación respiratorio abarcativo, tuvo un efecto clínico significativo, efectivamente mejorando indicadores clínicos relevantes. Tal aplicación debería ser largamente promovida. Nivel de evidencia II; Estudios terapéuticos - investigación de resultados de tratamiento.
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Background: Myositis has been reported to be associated or triggered by viruses. Genetic and environmental factors are documented risk for myopathies. Viruses have also been shown to modify the clinical course of auto-immune diseases. We therefore report a case of SARS-Cov-2 infection in a 26-year-old female black Zambian patient with proximal myopathy. Case Presentation: We present the case of a 26-yearold chemical factory worker with severe acute respiratory distress syndrome corona virus 2 (SARS-cov-2) infection and proximal myopathy. She presented to a local private hospital with fever, weakness and flu-like symptoms after being exposed to a colleague diagnosed with SARS-cov-2 infection at the time Zambia declared the July 2021 third wave of SARS-cov-2pandemic. She also reported difficulties in climbing stairs, had Raynaud's phenomenon, proximal myopathy, classic dermatomyositis features, symptoms of systemic sclerosis, raised creatine phosphokinase (CPK), and a positive nasopharyngeal PCR test for SARS-Cov-2 infection. Conclusions: We presented, for the first time in Zambia, the case of a patient with SARS-Cov-2 infection and severe proximal myopathy secondary to newly diagnosed dermatomyositis and overlap systemic sclerosis. The myopathy appeared to have been worsened by SARS-Cov-2 viral infection.
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Sclerosis , Dermatomyositis , COVID-19 , Muscular Diseases , Case ReportsABSTRACT
Introducción. Las enfermedades autoinmunes del hígado son un grupo de patologías caracterizadas por una respuesta autoinmune contra los hepatocitos y/o el epitelio biliar. Sus manifestaciones clínicas son variadas, con alteraciones en las pruebas de función hepática y presencia de autoanticuerpos. Metodología. Estudio observacional descriptivo con 101 pacientes atendidos en el Hospital Universitario de La Samaritana de Bogotá D.C., entre enero a diciembre de 2019, con los diagnósticos de hepatitis autoinmune, colangitis biliar primaria, colangitis esclerosante primaria y síndrome de sobreposición. Se evaluaron los parámetros clínicos y de laboratorio, con el fin de caracterizar su frecuencia en estas patologías, debido a la importancia de un diagnóstico precoz. Resultados. Se encontraron 54 casos de hepatitis autoinmune, 19 casos de colangitis biliar primaria, 4 casos de colangitis esclerosante primaria y 24 casos de síndrome de sobreposición. El 81% fueron mujeres y la edad promedio fue de 55 años. El 39% de los pacientes tenían cirrosis. En general, los resultados se ajustaron a lo descrito internacionalmente, como es el predominio en mujeres y la comorbilidad autoinmune. Conclusión. Los hallazgos indican que cualquier alteración del perfil bioquímico hepático debe ser considerado, y se debe descartar la presencia de hepatopatías autoinmunes para diagnosticarlas de manera precoz, evitando que lleguen a cirrosis y sus complicaciones, con la necesidad de un trasplante hepático como única alternativa terapéutica.
Introduction. Autoimmune liver diseases are a group of pathologies characterized by an autoimmune response against hepatocytes and/or the biliary epithelium. Their clinical manifestations are varied, with alterations in liver function tests and the presence of autoantibodies. Methodology. Descriptive study with 101 patients who attended at the Hospital Universitario de La Samaritana in Bogota D.C., between January and December 2019, with the diagnoses of autoimmune hepatitis, primary biliary cholangitis, primary sclerosing cholangitis and overlap syndrome. Clinical and laboratory parameters were evaluated in order to characterize their frequency in these pathologies, due to the importance of an early diagnosis. Results. There were 54 cases of autoimmune hepatitis, 19 cases of primary biliary cholangitis, 4 cases of primary sclerosing cholangitis, and 24 cases of overlap syndrome. Of all patients, 81% were women, the average age was 55 years, and 39% had cirrhosis. In general, the findings were consistent with what has been described worldwide, such as a higher prevalence in women and autoimmune comorbidity. Conclusion. The findings indicate that any alteration in the liver biochemical profile should be considered to rule out an autoimmune liver disease for an early diagnosis, avoiding the possibility of cirrhosis and its complications, with the need for a liver transplant as the only therapeutic alternative.
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Humans , Male , Female , Adult , Middle Aged , Aged , Aged, 80 and over , Autoimmunity , Liver Diseases/immunology , Autoantibodies/blood , Syndrome , Cholangitis, Sclerosing/diagnosis , Cholangitis, Sclerosing/immunology , Retrospective Studies , Hepatitis, Autoimmune/diagnosis , Hepatitis, Autoimmune/immunology , Octogenarians , Transaminases/blood , Liver Cirrhosis, Biliary/diagnosis , Liver Cirrhosis, Biliary/immunology , Liver Diseases/diagnosisABSTRACT
Resumen Las patologías autoinmunes son condiciones causadas por una respuesta anormal del sistema inmune. La esclerosis sistémica es un trastorno autoinmune que afecta la microvasculatura del tracto gastrointestinal, pulmones, riñones, corazón, piel y articulaciones, con la consiguiente fibrosis de los órganos afectados, mientras que el lupus eritematoso sistémico se caracteriza por una actividad aberrante del sistema inmunológico considerada como un prototipo de enfermedad mediada por formación de inmunocomplejos, que conduce a síntomas clínicos variables; es poco usual la superposición de dos patologías del sistema inmune, sin hacer mención de la enfermedad mixta del tejido conectivo, y es de gran importancia identificar una patología combinada ya que tiene un gran impacto en las características clínicas, el diagnóstico, tratamiento y pronóstico del paciente.
Abstract Autoimmune pathologies are conditions caused by an abnormal response of the immune system. Systemic sclerosis is an autoimmune disorder that affects the microvasculature of the gastrointestinal tract, lungs, kidneys, heart, skin and joints, with consequent fibrosis of the affected organs, while systemic lupus erythematosus is characterized by an aberrant activity of the immune system considered as a prototype of immune complex-mediated disease, leading to variable clinical symptoms; the overlap of two pathologies of the immune system is unusual, without mentioning the mixed connective tissue disease, and it is of great importance to identify a combined pathology since it has a great impact on the clinical characteristics, diagnosis, treatment and prognosis of the patient.
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ABSTRACT Objective: To evaluate the frequency of asthma-COPD overlap (ACO) in patients with COPD and to compare, from a clinical, laboratory, and functional point of view, patients with and without ACO, according to different diagnostic criteria. Methods: The participants underwent evaluation by a pulmonologist, together with spirometry and blood tests. All of the patients were instructed to record their PEF twice a day. The diagnosis of ACO was based on the Proyecto Latinoamericano de Investigación en Obstrucción Pulmonar (PLATINO, Latin American Project for the Investigation of Obstructive Lung Disease) criteria, the American Thoracic Society (ATS) Roundtable criteria, and the Spanish criteria. We investigated patient histories of exacerbations and hospitalizations, after which we applied the COPD Assessment Test and the modified Medical Research Council scale, to classify risk and symptoms in accordance with the GOLD criteria. Results: Of the 51 COPD patients, 14 (27.5%), 8 (12.2%), and 18 (40.0) were diagnosed with ACO on the basis of the PLATINO, ATS Roundtable, and Spanish criteria, respectively. The values for pre-bronchodilator FVC, post-bronchodilator FVC, and pre-bronchodilator FEV1 were significantly lower among the patients with ACO than among those with COPD only (1.9 ± 0.4 L vs. 2.4 ± 0.7 L, 2.1 ± 0.5 L vs. 2.5 ± 0.8 L, and 1.0 ± 0.3 L vs. 1.3 ± 0.5 L, respectively). When the Spanish criteria were applied, IgE levels were significantly higher among the patients with ACO than among those with COPD only (363.7 ± 525.9 kU/L vs. 58.2 ± 81.6 kU/L). A history of asthma was more common among the patients with ACO (p < 0.001 for all criteria). Conclusions: In our sample, patients with ACO were more likely to report previous episodes of asthma and had worse lung function than did those with COPD only. The ATS Roundtable criteria appear to be the most judicious, although concordance was greatest between the PLATINO and the Spanish criteria.
RESUMO Objetivo: Avaliar a frequência de asthma-COPD overlap (ACO, sobreposição asma-DPOC) em pacientes com DPOC e comparar, do ponto de vista clínico, laboratorial e funcional, os pacientes com e sem essa sobreposição conforme diferentes critérios diagnósticos. Métodos: Os participantes foram submetidos à avaliação com pneumologista, espirometria e exame sanguíneo, sendo orientados a manter o registro do PFE duas vezes ao dia. O diagnóstico de ACO deu-se através dos critérios Projeto Latino-Americano de Investigação em Obstrução Pulmonar (PLATINO), American Thoracic Society (ATS) Roundtable e Espanhol. Foram investigados os históricos de exacerbações e hospitalizações e aplicados os instrumentos COPD Assessment Test e escala Medical Research Council modificada, utilizados para a classificação de risco e sintomas da GOLD. Resultados: Entre os 51 pacientes com DPOC, 14 (27,5%), 8 (12,2%) e 18 (40,0) foram diagnosticados com ACO segundo os critérios PLATINO, ATS Roundtable e Espanhol, respectivamente. Pacientes com sobreposição significativamente apresentaram pior CVF pré-broncodilatador (1,9 ± 0,4 L vs. 2,4 ± 0,7 L), CVF pós-broncodilatador (2,1 ± 0,5 L vs. 2,5 ± 0,8 L) e VEF1 pré-broncodilatador (1,0 ± 0,3 L vs. 1,3 ± 0,5 L) quando comparados a pacientes com DPOC. Os níveis de IgE foram significativamente mais elevados em pacientes com sobreposição diagnosticados pelo critério Espanhol (363,7 ± 525,9 kU/L vs. 58,2 ± 81,6 kU/L). O histórico de asma foi mais frequente em pacientes com a sobreposição (p < 0,001 para todos os critérios). Conclusões: Nesta amostra, pacientes com ACO relataram asma prévia com maior frequência e possuíam pior função pulmonar quando comparados a pacientes com DPOC. O critério ATS Roundtable aparenta ser o mais criterioso em sua definição, enquanto os critérios PLATINO e Espanhol apresentaram maior concordância entre si.
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Humans , Asthma/complications , Asthma/diagnosis , Asthma/epidemiology , Pulmonary Disease, Chronic Obstructive/complications , Pulmonary Disease, Chronic Obstructive/diagnosis , Pulmonary Disease, Chronic Obstructive/epidemiology , Spirometry , Forced Expiratory Volume , Hospitalization , LaboratoriesABSTRACT
Objective:We aimed to estimate the incidence of anxiety or depression in asthma-chronic obstructive pulmonary disease (COPD) overlap (ACO) patients and explore its related factors.Methods:Stable patients who were treated or followed up in the outpatient department of respiratory medicine in the First Hospital of China Medical University from March 2018 to March 2019 were enrolled, including 53 ACO patients, 74 asthma patients, and 138 patients with COPD. Hamilton Depression Scale (HAMD) and Hamilton Anxiety Scale (HAMA) were used to evaluating the anxiety and depression status of the three groups of patients, and the risk factors of anxiety and/or depression in ACO patients were analyzed.Results:There were 33 cases (62.3%), 35 cases (47.3%) and 69 cases (50.0%) combined with anxiety in ACO, asthma and COPD group; there were 29 cases (54.7%), 25 cases (33.8%) and 58 cases (42.0%) combined with depression in ACO, asthma and COPD group, respectively. The patients with depression in ACO were significantly higher than those in asthma group ( P<0.05). There were 28 patients (52.8%), 24 patients (32.4%) and 52 patients (37.7%) combined with anxiety and depression in ACO, asthma and COPD group, respectively, with significant difference in ACO group and asthma group ( P<0.05). Multivariate logistic regression analysis showed that chronic obstructive pulmonary disease assessment test (CAT) score≥10 was associated with anxiety ( OR=15.00, P<0.01) or depression ( OR=8.667, P<0.01) in patients with ACO. Conclusions:Anxiety/depression is common in chronic airway disease. Compared with asthma, anxiety and/or depression is more frequent in the patients with ACO. ACO patients with high CAT scores should pay attention to screening for anxiety/depression.
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Background: Asthma-chronic obstructive pulmonary disease (COPD) overlap syndrome defined as a syndrome characterized by persistent airflow limitation with several features usually associated with asthma and several features usually associated with COPD. This overlap makes the difference between COPD and asthma with persistent airflow limitation difficult, especially in smokers and elderly people. Objective: The objective of the study was to study the clinical features, radiological and pulmonary function characteristics of patients having asthma-COPD overlap syndrome. Materials and Methods: A cross-sectional study carried out at the Department of Respiratory Medicine, Government Medical College, Baroda, attached to SSG Hospital, Vadodara. A total of 100 patients enrolled which were clinically diagnosed with chronic airway obstruction as defined in the GOLD/GINA asthma-COPD overlap syndrome (ACOS) guidelines. Results: In this study, a total of 100 patients were enrolled, out them 76 patients were male and 24 patients were female. Fifty-three patients were from urban area and 47 patients from rural area. Most patients belong to age ranging from 40 to 86. Ninety-nine patients had a breathlessness and it was the most common symptom followed by chronic cough in 93 patients, sputum production in 70 patients, wheezing in 70 patients, running nose in 65 patients, and chest tightness in 46 patients. In smoking history, 25 patients were current smoker, 49 patients were ex-smoker, and 26 patients had never smoked in their life. In pulmonary function test, 26 patients had a normal test, 13 patients had obstructive abnormality with no significant bronchodilator reversibility, 54 patients had a obstructive abnormality with significant bronchodilator reversibility, and 7 patients had a restrictive abnormality. Conclusion: Clinically diagnosed ACOS patients were mostly males, belong to middle age groups, had breathlessness, wheezing, chronic cough with sputum production, and rhinitis and sneezing as the major symptoms. The pulmonary function tests revealed majority of the patients having obstructive pattern in pulmonary function test (spirometry). Furthermore, a majority of these patients had significant positive bronchodilatory response.
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Background: Chronic obstructive pulmonary disease (COPD) and asthma are the two most commonly seen obstructive airway disorders, affecting millions of people across the world. Asthma-chronic obstructive pulmonary disease overlap syndrome (ACOS) includes the patients having features of both COPD and asthma. Objectives: The objectives of the study were to evaluate spectrum of fungal infection in sputum/induced sputum/bronchoalveolar lavage (BAL) samples of ACOS patients. Materials and Methods: Our prospective study conducted on 80 patients diagnosed ACOS, in exacerbation, of either sex attending the Department of Respiratory Medicine, Pandit Bhagwat Dayal Sharma Post Graduate Institute of Medical Sciences, Rohtak, after taking permission from the ethical committee. Sputum or induced sputum or BAL sample was collected in sterile vials and sent to the microbiology department for the examination for fungal species. In microbiology, sputum/BAL samples were subjected to direct microscopic examination using KOH and cultured on Sabouraud Dextrose Agar. The culture was observed daily until 21 days for any fungal growth. Results: Out of 80 patients of ACOS, 43 were males and 37 were females. Culture results were positive for fungal species in 33 patients out of 80 patients (41.2%). Different species of fungi were cultured such as Candida (22.6%), Aspergillus flavus (5%), Aspergillus fumigatus (2.5%), Aspergillus niger (2.5%), Penicillium non-marneffei (3.8%), Trichosporon spp. (3.8%), and Geotrichum spp. (1.3%). Conclusion: Our observations show that a wide spectrum of fungal species is prevalent in respiratory tract in ACOS patients. Determination of pulmonary mycosis in ACOS is required to detect, and treat the coinfection with fungus well in time and decrease morbidity and mortality due to ACOS.
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Introduction:Respiratory failures are categorized into types I and II. To our knowledge, we report the first case of pulmonary rehabilitation in a patient with systemic sclerosis/polymyositis overlap syndrome who developed type II respiratory failure.Methods:The patient was a 77-year-old woman who had received treatment for systemic sclerosis and polymyositis at another hospital. When she visited our hospital to obtain a second opinion, she suddenly lost consciousness and underwent trachea intubation because of typeⅡrespiratory failure. She received physical therapy on the third day of hospitalization and underwent a tracheotomy on the 16th day. As her thoracic movement was markedly restricted, we started physical training. After she was weaned off from the ventilator on the 43rd day, we performed muscular strength training and aerobic exercise. No exacerbation of CO2 storage was observed even if chest motion training was performed. She was discharged on the 72nd day and advised to wear retina®.Administration of therapeutic drugs such as steroids was maintained at the same dose.Conclusion:Physical therapy, such as chest mobilization, was effective for marked restriction of chest movement in a patient who had both polymyositis and systemic sclerosis.
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OBJECTIVE@#Mitochondrial deoxyribonucleic acid (mtDNA) 8344 A>G (m.8344A>G) mutation is the common mutation associated with mitochondrial myoclonus epilepsy with ragged-red fibers (MERRF) syndrome. Herein we report a rare case with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes/MERRF/Leigh (MELAS/MERRF/Leigh) overlap syndrome caused by m.8344A>G mutation.@*METHODS@#The clinical and imaging data of the patient were collected and an open muscle biopsy was carried out. We further employed molecular genetic analyses to detect mtDNA mutation in the proband and his mother. And then a clinical and neuroimaging follow-up was performed.@*RESULTS@#This patient was a 25-year-old male, who developed exercise intolerance since the age of 6. At age 10, he suffered from acute episodes of hemianopia, and cranial magnetic resonance imaging (MRI) showed occipital stroke-like lesions and cranial magnetic resonance spectroscopy (MRS) revealed a lactate peak corresponding to the lesion. After that the patient presented slowly progressive psychomotor decline. He had myoclonic seizures and cerebellar ataxia since the age of 12. At age 21, he was admitted to our hospital because of confusion and cranial MRI revealed symmetrical lesions in bilateral posterior putamen, thalami and midbrain. Then repeated MRI showed progression of original lesions and new frontal multiple stroke-like lesions. Symptomatic and rehabilitation treatment relieved his condition. Follow-up cranial MRI at age 24 showed the lesions in basal ganglia and thalami diminished, and the midbrain lesions even completely vanished. Muscle pathology indicated the presence of numerous scattered ragged-red fibers (RRF), suggestive of a mitochondrial disorder. Polymerase chain reaction-restricted fragment length polymorphism (PCR-RFLP) detected the m.8344A>G mutation of the MT-TK gene encoding mitochondrial transfer RNA for lysine in the patient's blood. Next generation sequencing (NGS) of the whole mitochondrial genome identified that the proportion of m.8344A>G was 90%, and no other mtDNA mutation was detected. Sanger sequencing further identified this mutation both in the proband and his mother's blood, although the mutation load was much lower in his mother's blood with approximately 10% heteroplasmy.@*CONCLUSION@#The present study is the first to describe a patient with m.8344A>G mutation in association with the MELAS/MERRF/Leigh overlap syndrome, which expands the phenotypic spectrum of the m.8344A>G mutation.
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Adult , Child , Humans , Male , Young Adult , Acidosis, Lactic , DNA, Mitochondrial/genetics , Mitochondrial Encephalomyopathies , Mutation , StrokeABSTRACT
ObjectiveTo investigate the expression and clinical significance of OX40/OX40L (CD134/CD134L) in CD4+ T cells, CD8+ T cells, monocytes, and B lymphocytes in peripheral blood of patients with autoimmune hepatitis (AIH), primary biliary cholangitis (PBC), and their overlap syndrome before and after standardized treatment. MethodsA total of 74 patients with AIH, PBC, and their overlap syndrome who were diagnosed in Subei People’s Hospital of Jiangsu from August 2015 to August 2019 were enrolled, and according to related diagnostic criteria, they were divided into AIH group (group A) with 29 patients, PBC group (group P) with 26 patients, and overlap syndrome group (group C) with 19 patients. A healthy control group with 30 individuals was also established. Peripheral blood samples were collected before and after standardized treatment to measure the expression of OX40/OX40L on the surface of peripheral blood cells by immunofluorescence flow cytometry, and the expression of OX40/OX40L was compared before and after treatment and between the three groups and the healthy control group to investigate its clinical significance. A one-way analysis of variance was used for comparison between multiple groups, and the least significant difference t-test was used for further comparison between two groups; the paired t-test was used for comparison of paired samples between two groups. ResultsThere were no significant differences in sex composition and age composition between the three groups (P>0.05). Before treatment, the positive rate of OX40 in peripheral blood CD4+ T cells gradually increased in groups A, P, and C, and groups A, P, and C had a significantly higher positive rate of OX40 than the control group (14.80%±4.99%/17.11%±2.71%/25.18%±5.55% vs 6.67%±2.26%, F=14.823, P<0.001); groups A, P, and C had a significantly higher positive rate of OX40 in CD8+ T cells than the control group (4.86%±1.54%/6.40%±1.88%/7.33%±2.12% vs 4.09%±2.69%, F=5.486, P<0.001); the positive rate of OX40L in CD14+ monocytes was 19.84%±6.11% in group A, 21.17%±4.35% in group P, 29.13%±6.32% in group C, and 4.86%±2.34% in the control group, and there was a significant difference between groups (F=17004, P<0.001); the positive rate of OX40L in CD19+ B cells was 17.62%±3.86% in group A, 14.75%±4.32% in group P, 1013%±2.56% in group C, and 4.50%±1.38% in the control group, showing a trend of gradual reduction, and groups A, P, and C had a significantly higher positive rate than the control group (F=12.221, P<0.001). After treatment, the positive rate of OX40 in CD8+ T cells decreased significantly to a similar level as the control group, and there was no significant difference between groups (F=0731, P=0.538). For the other three types of cells, although there were varying degrees of reduction in the positive rate of OX40/OX40L after treatment, groups A, P, and C still had a significantly higher positive rate than the control group; in CD4+ T cells, the positive rate of OX40 was 11.00%±1.98% in group A, 13.72%±1.03% in group P, 19.72%±3.47% in group C, and 6.67%±2.26% in the control group, and groups A, P, and C had a significantly higher positive rate than the control group (F=11.365, P<0.001); in CD14+ monocytes, the positive rate of OX40L was 11.82%±2.23% in group A, 15.19%±4.42% in group P, 24.51%±4.09% in group C, and 4.86%±2.34% in the control group, and groups A, P, and C had a significantly higher positive rate than the control group (F=13748, P<0.001); in CD19+ B cells, the positive rate of OX40L was 9.09%±3.25% in group A, 6.81%±2.20% in group P, 748%±2.85% in group C, and 4.50%±1.38% in the control group, and groups A, P, and C had a significantly higher positive rate than the control group (F=8.052, P<0.001). Groups A, P, and C had significant reductions in the expression of OX40/OX40L in peripheral blood CD4+ T cells, CD8+ T cells, CD14+ monocytes, and CD19+ B lymphocytes after treatment (all P<0.05). ConclusionThe expression of OX40/OX40L in peripheral blood increases in patients with AIH, PBC, and their overlap syndrome and decreases after treatment, indicating that the OX40/OX40L pathway is involved in the pathogenesis of the above diseases, and the role of OX40 on the surface of CD8+ T cells may better reflect the treatment outcome.
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Autoimmune liver diseases mainly include primary biliary cholangitis (PBC), autoimmune hepatitis (AIH), and primary sclerosing cholangitis. Simultaneous or successive occurrence of the features of any two of the above diseases is called overlap syndrome, among which PBC-AIH overlap syndrome is the most common type. Overlap syndrome can progress rapidly to liver cirrhosis and liver failure without timely treatment. This article summarizes the research advances in overlap syndrome of autoimmune liver disease in recent years.
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OBJECTIVE:To systematically e valuate the effectiveness of inhaled corticosteroids combined with tiotropium bromide versus inhaled corticosteroids alone in the treatment of asthmatic-COPD overlap syndrome ,and to provide evidence-based reference for clinical use. METHODS :Retrieved from PubMed ,Web of Science ,Embase,Cochrane Library ,CBM,CNKI, VIP,Wanfang database ,during the establishment of the database to Nov. 2019,randomized controlled trials (RCT)about inhaled corticosteroids combined with tiotropium bromide (trial group )versus inhaled corticosteroids alone (control group )in the treatment of asthmatic-COPD overlap syndrome were collected. After data extraction of included literatures met inclusion criteria ,quality evaluation with modified Jadad scale ,Meta-analysis was performed for response rate ,forced expiratory volume in the first second (FEV1),forced vital capacity (FVC),FEV1/FVC,inspiratory fraction (IC/TLC),residual to total ratio (RV/TLC),asthma symptom(ACT)score,chronic obstructive pulmonary symptom (CAT)score,the times of acute exacerbations by Rev Man 5.3.0 software. RESULTS :A total of 25 RCTs were included ,involving 2 828 patients. The results of Meta-analysis showed that the response rate [RR =1.16,95%CI(1.10,1.22),P<0.001],FEV1[MD=0.44,95%CI(0.35,0.54),P<0.001],FVC [MD =0.70, 95%CI(0.46,0.95),P<0.001],FEV1/FVC [MD= 8.79,95%CI(6.22,11.37),P<0.001],IC/TLC [MD =4.93,95%CI(3.01, 6.85),P<0.001],RV/TLC [MD =-9.22,95%CI(-9.79,-8.66),P<0.001],ACT score [MD =5.38,95%CI(4.30,6.47), P<0.001],CAT score [MD =-3.67,95%CI(-4.89,-2.45),P<0.001] and the times of acute exacerbations [MD =-1.49, 95%CI(-2.82,-0.17),P=0.03] in trial group were significantly higher than control group ,with statistical significance. CONCLUSIONS:Compared with inhaled corticosteroids alone ,inhaled hormone combined with tiotropium bromide can improve the response rate and pulmonary function ,but increase the times of acute exacerbation of patients with asthmatic-COPD overlap syndrome.
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Introduction:Respiratory failures are categorized into types I and II. To our knowledge, we report the first case of pulmonary rehabilitation in a patient with systemic sclerosis/polymyositis overlap syndrome who developed type II respiratory failure.Methods:The patient was a 77-year-old woman who had received treatment for systemic sclerosis and polymyositis at another hospital. When she visited our hospital to obtain a second opinion, she suddenly lost consciousness and underwent trachea intubation because of typeⅡrespiratory failure. She received physical therapy on the third day of hospitalization and underwent a tracheotomy on the 16th day. As her thoracic movement was markedly restricted, we started physical training. After she was weaned off from the ventilator on the 43rd day, we performed muscular strength training and aerobic exercise. No exacerbation of CO2 storage was observed even if chest motion training was performed. She was discharged on the 72nd day and advised to wear retina®.Administration of therapeutic drugs such as steroids was maintained at the same dose.Conclusion:Physical therapy, such as chest mobilization, was effective for marked restriction of chest movement in a patient who had both polymyositis and systemic sclerosis.
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Objective To investigate the clinical characteristics and management of asthma and COPD overlap syndrome in Nanchong area. Methods The data of respiratory medicine patients in Nanchong area from October 2017 to November 2019 were collected. Patients who met the criteria were classified as asthma and COPD (ACOS) group (104 cases), asthma (BA) group (120 cases), and COPD group (116 cases). The clinical data of the three groups were compared and their general data and clinical characteristics were analyzed. Results The BA group had the highest proportion of patients with smoking history (92.50%), and had the least amount of smoking (P<0.05). The lung function indexes of ACOS group and COPD group were significantly lower than those of BA group (P<0.05). After inhaling bronchodilators, the variation rate of forced expiratory volume in the first second of the ACOS group was significantly higher than that of the COPD group (P<0.05). Patients in the COPD group had the lowest levels of immunoglobulin E (sIgE) and FeNO, while patients in the ACOS group had the highest level of EOS (P<0.05). Conclusion Compared with BA patients, ACOS patients were older and had a lower proportion of smoking but higher smoking quantity, and their lung function was significantly worse. Compared with COPD patients, ACOS patients had a higher proportion of smoking but lower smoking quantity, with better lung diffusion function, and high airway inflammation. The peripheral blood eosinophils in ACOS patients were specifically increased, which can be used as a reference for clinical diagnosis.
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Background@#The coexistence of chronic obstructive pulmonary disease (COPD) and obstructive sleep apnea (OSA) is termed overlap syndrome (OS). COPD and OSA both have increased risks of developing cardiovascular diseases. This study aimed to explore if patients with OS exhibited a higher prevalence of cardiovascular complications, and if patients with OS exhibited vascular endothelial dysfunction and abnormalities in the cellular immune function of T lymphocytes.@*Methods@#Totally 25 patients with stable COPD (COPD group), 25 patients with OSA (OSA group), 25 patients with OS (OS group), and 20 healthy adults (control group) were enrolled between January 2017 and December 2017 from the Respiratory Department of Tianjin Medical University General Hospital. The clinical characteristics of the four groups were collected and the expression levels of soluble vascular cell adhesion molecule-1 (sVCAM-1), tumor necrosis factor-α (TNF-α), and T-lymphocyte subsets were detected. One-way analysis of variance, χ2 test and Pearson correlation were used to manage the data.@*Results@#The prevalence of hypertension and coronary heart disease was significantly higher in the OS group than in the control, OSA, and COPD groups (χ2 = 20.69, P < 0.05 and χ2 = 11.03, P < 0.05, respectively). The levels of sVCAM-1 and TNF-α were significantly higher in the OS group than in other groups (F = 127.40, P < 0.05 and F = 846.77, P < 0.05, respectively). The percentage of CD4+ lymphocytes and CD4+/CD8+ were both significantly lower in the OS group than in any other group (F = 25.40, P < 0.05 and F = 75.08, P < 0.05, respectively). There were significantly negative correlations in the levels of sVCAM-1 and TNF-α with CD4+/CD8+ lymphocytes (r = –0.77, P < 0.05 and r = –0.83, P < 0.05, respectively).@*Conclusions@#The prevalence of hypertension and coronary heart disease was higher in patients with OS than in patients with either OSA or COPD alone. Patients with OS exhibited more severe vascular endothelial injury, stronger inflammatory response, and lower cellular immune function.
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Objective@#To explore the clinicopathological features of anti-mitochondrial antibody (AMA) negative and positive patients with primary biliary cholangitis-autoimmune hepatitis overlap syndrome (PBC-AIH OS).@*Methods@#Seventy-four cases diagnosed as PBC-AIH OS from June 2017 to April 2018 were enrolled in this study. Among them, forty cases were AMA negative (negative group) and thirty-four cases were AMA positive (positive group). The clinical manifestations, serum biochemical indexes, immunological indexes and histological data of the negative group were compared with the positive group. Mann-Whitney U test and theχ 2test were used for statistical analysis.@*Results@#There was no significant difference in sex, age, clinical manifestations and major liver function indexes (ALT, AST, ALP, GGT, TB, DB) between the negative group and positive group (P> 0.05). The level of IgM in the negative group (1.68 ± 0.87) was significantly lower than positive group (3.77 ± 2.88)(P< 0.05). The positive rates of antinuclear antibodies (ANA) and gp-210 antibodies was lower than positive group (P< 0.05). There were no significant differences in the stages of inflammation and fibrosis between the two groups (P> 0.05), and the bile duct injury was more significant in the negative than positive group (P< 0.05).@*Conclusion@#The serum IgM level of AMA-negative PBC-AIH OS is low, and immunological antibody is often negative, which makes bile duct injury apparent in liver histology. A liver biopsy should be carried out as soon as possible for early diagnosis and treatment.