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PURPOSE: This study aimed to identify the risk factors for anterior knee pain (AKP) after medial patellofemoral ligament reconstruction (MPFLR). METHODS: Patients aged 15-35 years who underwent isolated MPFLR between 2012 and 2022 were included in the study. These patients were divided into two groups (AKP and control group). Patient demographics and preoperative and postoperative clinical outcomes between the two groups were assessed and compared. Univariate logistic regression analysis was performed to explore the potential risk factors associated with postoperative AKP. Subgroup analysis stratified the results based on the time to return to sports (RTS) (>9 and ≤9 months). Furthermore, Spearman correlation analysis was performed to investigate the association between Kujala score and time to RTS. RESULTS: A total of 206 patients were included (AKP, n = 59; control, n = 147). At the 2-year follow-up, patients with AKP demonstrated a shorter duration in returning to their pre-injury activity level compared to those without AKP (9.0 ± 3.6 vs. 10.3 ± 2.7 months, p < 0.05). RTS earlier than 9 months after MPFLR was the only significant risk factor associated with postoperative AKP (odds ratio, 2.13, 95% confidence interval, 1.03-4.39; p < 0.05). Further subgroup analysis revealed that patient RTS earlier than 9 months exhibited worse patient-reported outcomes in both the total cohort and control group (p < 0.05). Furthermore, among patient RTS within 9 months, a longer recovery duration before RTS strongly correlated with a higher Kujala score (R = 0.670, p < 0.001). CONCLUSIONS: Young patients who RTS at their pre-injury levels before 9 months after MPFLR have a higher incidence of postoperative AKP and poorer functional outcomes compared to those who delay their return. Specifically, within the first 9 months after MPFLR, the earlier the RTS, the more severe the AKP symptoms. Careful consideration of the timing for RTS may help reduce the incidence of postoperative AKP. LEVEL OF EVIDENCE: Level III.
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BACKGROUND: Since December 2019, when coronavirus disease 2019 (Covid-19) emerged in Wuhan city and rapidly spread throughout China, data have been needed on the clinical characteristics of the affected patients. METHODS: We extracted data regarding 1099 patients with laboratory-confirmed Covid-19 from 552 hospitals in 30 provinces, autonomous regions, and municipalities in mainland China through January 29, 2020. The primary composite end point was admission to an intensive care unit (ICU), the use of mechanical ventilation, or death. RESULTS: The median age of the patients was 47 years; 41.9% of the patients were female. The primary composite end point occurred in 67 patients (6.1%), including 5.0% who were admitted to the ICU, 2.3% who underwent invasive mechanical ventilation, and 1.4% who died. Only 1.9% of the patients had a history of direct contact with wildlife. Among nonresidents of Wuhan, 72.3% had contact with residents of Wuhan, including 31.3% who had visited the city. The most common symptoms were fever (43.8% on admission and 88.7% during hospitalization) and cough (67.8%). Diarrhea was uncommon (3.8%). The median incubation period was 4 days (interquartile range, 2 to 7). On admission, ground-glass opacity was the most common radiologic finding on chest computed tomography (CT) (56.4%). No radiographic or CT abnormality was found in 157 of 877 patients (17.9%) with nonsevere disease and in 5 of 173 patients (2.9%) with severe disease. Lymphocytopenia was present in 83.2% of the patients on admission. CONCLUSIONS: During the first 2 months of the current outbreak, Covid-19 spread rapidly throughout China and caused varying degrees of illness. Patients often presented without fever, and many did not have abnormal radiologic findings. (Funded by the National Health Commission of China and others.).
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Betacoronavirus , Infecções por Coronavirus , Surtos de Doenças , Pandemias , Pneumonia Viral , Adolescente , Adulto , Idoso , COVID-19 , Criança , China/epidemiologia , Infecções por Coronavirus/complicações , Infecções por Coronavirus/diagnóstico , Infecções por Coronavirus/epidemiologia , Infecções por Coronavirus/terapia , Feminino , Febre/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Gravidade do Paciente , Pneumonia Viral/complicações , Pneumonia Viral/diagnóstico , Pneumonia Viral/epidemiologia , Pneumonia Viral/terapia , SARS-CoV-2 , Adulto JovemRESUMO
Mendelian susceptibility to mycobacterial disease (MSMD) is a rare monogenetic disease, which is characterized by susceptibility to some weakly virulent mycobacteria. Here, we explored the pathogenic genes and molecular mechanisms of MSMD patients. We recruited three patients diagnosed with MSMD from two families. Two novel mutations (c.1228A > G, p.K410E and c.2071A > G, p.M691V) in STAT1 gene were identified from two families. The translocation of K410E mutant STAT1 protein into nucleus was not affected. The binding ability between gamma-activating sequence (GAS) and K410E mutant STAT1 protein was significantly reduced, which will reduce the interaction between STAT1 protein with the promoters of target genes. The M691V mutant STAT1 protein cannot translocate into the nucleus after IFN-γ stimulation, which will affect the STAT1 protein form gamma-activating factors (GAF) and bind the GAS in the promoter region of downstream target genes. Taken together, our results showed that the mutation of K410E led to impaired binding of STAT1 to target DNA, and the mutation of M691V prevented the transport of STAT1 into the nucleus, which led to MSMD. Together, we identified two novel mutations (c.1228A > G, p.K410E and c.2071A > G, p.M691V) in STAT1 gene in MSMD patients, and deciphered the molecular mechanism of MSMD caused by STAT1 mutations.
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Predisposição Genética para Doença , Mutação/genética , Infecções por Mycobacterium/genética , Infecções por Mycobacterium/microbiologia , Fator de Transcrição STAT1/genética , Sequência de Aminoácidos , Sequência de Bases , Núcleo Celular/metabolismo , DNA/metabolismo , Feminino , Células HEK293 , Células HeLa , Humanos , Masculino , Proteínas Mutantes/química , Proteínas Mutantes/genética , Linhagem , Ligação Proteica , Domínios Proteicos , Transporte Proteico , Fator de Transcrição STAT1/química , Fator de Transcrição STAT1/metabolismo , Frações Subcelulares/metabolismoRESUMO
BACKGROUND: Crucial roles of hematologic and immunologic responses in progression of coronavirus disease 2019 (COVID-19) remain largely unclear. OBJECTIVE: We sought to address the dynamic changes in hematologic and immunologic biomarkers and their associations with severity and outcomes of COVID-19. METHODS: A retrospective study including 548 patients with COVID-19 with clarified outcome (discharged or deceased) from a national cohort in China was performed. Cross-sectional and longitudinal variations were compared and the associations with different severity and outcomes were analyzed. RESULTS: On admission, the counts of lymphocytes, T-cell subsets, eosinophils, and platelets decreased markedly, especially in severe/critical and fatal patients. Increased neutrophil count and neutrophils-to-lymphocytes ratio were predominant in severe/critical cases or nonsurvivors. During hospitalization, eosinophils, lymphocytes, and platelets showed an increasing trend in survivors, but maintained lower levels or dropped significantly afterwards in nonsurvivors. Nonsurvivors kept a high level or showed an upward trend for neutrophils, IL-6, procalcitonin, D-dimer, amyloid A protein, and C-reactive protein, which were kept stable or showed a downward trend in survivors. Positive correlation between CD8+ T-cell and lymphocytes count was found in survivors but not in nonsurvivors. A multivariate Cox regression model suggested that restored levels of lymphocytes, eosinophils, and platelets could serve as predictors for recovery, whereas progressive increases in neutrophils, basophils, and IL-6 were associated with fatal outcome. CONCLUSIONS: Hematologic and immunologic impairment showed a significantly different profile between survivors and nonsurvivors in patients with COVID-19 with different severity. The longitudinal variations in these biomarkers could serve to predict recovery or fatal outcome.
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Biomarcadores/sangue , Infecções por Coronavirus/sangue , Infecções por Coronavirus/imunologia , Pneumonia Viral/sangue , Pneumonia Viral/imunologia , Adulto , Idoso , Betacoronavirus , COVID-19 , China , Estudos de Coortes , Infecções por Coronavirus/mortalidade , Estudos Transversais , Progressão da Doença , Feminino , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Pandemias , Pneumonia Viral/mortalidade , Prognóstico , Estudos Retrospectivos , SARS-CoV-2RESUMO
BACKGROUND: The coronavirus disease 2019 (COVID-19) outbreak is evolving rapidly worldwide. OBJECTIVE: To evaluate the risk of serious adverse outcomes in patients with COVID-19 by stratifying the comorbidity status. METHODS: We analysed data from 1590 laboratory confirmed hospitalised patients from 575 hospitals in 31 provinces/autonomous regions/provincial municipalities across mainland China between 11 December 2019 and 31 January 2020. We analysed the composite end-points, which consisted of admission to an intensive care unit, invasive ventilation or death. The risk of reaching the composite end-points was compared according to the presence and number of comorbidities. RESULTS: The mean age was 48.9â years and 686 (42.7%) patients were female. Severe cases accounted for 16.0% of the study population. 131 (8.2%) patients reached the composite end-points. 399 (25.1%) reported having at least one comorbidity. The most prevalent comorbidity was hypertension (16.9%), followed by diabetes (8.2%). 130 (8.2%) patients reported having two or more comorbidities. After adjusting for age and smoking status, COPD (HR (95% CI) 2.681 (1.424-5.048)), diabetes (1.59 (1.03-2.45)), hypertension (1.58 (1.07-2.32)) and malignancy (3.50 (1.60-7.64)) were risk factors of reaching the composite end-points. The hazard ratio (95% CI) was 1.79 (1.16-2.77) among patients with at least one comorbidity and 2.59 (1.61-4.17) among patients with two or more comorbidities. CONCLUSION: Among laboratory confirmed cases of COVID-19, patients with any comorbidity yielded poorer clinical outcomes than those without. A greater number of comorbidities also correlated with poorer clinical outcomes.
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Betacoronavirus , Infecções por Coronavirus/epidemiologia , Pneumonia Viral/epidemiologia , Adulto , COVID-19 , China/epidemiologia , Comorbidade , Infecções por Coronavirus/diagnóstico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pandemias , Pneumonia Viral/diagnóstico , Prognóstico , Fatores de Risco , SARS-CoV-2RESUMO
BACKGROUND: During the outbreak of coronavirus disease 2019 (COVID-19), consistent and considerable differences in disease severity and mortality rate of patients treated in Hubei province compared to those in other parts of China have been observed. We sought to compare the clinical characteristics and outcomes of patients being treated inside and outside Hubei province, and explore the factors underlying these differences. METHODS: Collaborating with the National Health Commission, we established a retrospective cohort to study hospitalised COVID-19 cases in China. Clinical characteristics, the rate of severe events and deaths, and the time to critical illness (invasive ventilation or intensive care unit admission or death) were compared between patients within and outside Hubei. The impact of Wuhan-related exposure (a presumed key factor that drove the severe situation in Hubei, as Wuhan is the epicentre as well the administrative centre of Hubei province) and the duration between symptom onset and admission on prognosis were also determined. RESULTS: At the data cut-off (31 January 2020), 1590 cases from 575 hospitals in 31 provincial administrative regions were collected (core cohort). The overall rate of severe cases and mortality was 16.0% and 3.2%, respectively. Patients in Hubei (predominantly with Wuhan-related exposure, 597 (92.3%) out of 647) were older (mean age 49.7 versus 44.9â years), had more cases with comorbidity (32.9% versus 19.7%), higher symptomatic burden, abnormal radiologic manifestations and, especially, a longer waiting time between symptom onset and admission (5.7 versus 4.5â days) compared with patients outside Hubei. Patients in Hubei (severe event rate 23.0% versus 11.1%, death rate 7.3% versus 0.3%, HR (95% CI) for critical illness 1.59 (1.05-2.41)) have a poorer prognosis compared with patients outside Hubei after adjusting for age and comorbidity. However, among patients outside Hubei, the duration from symptom onset to hospitalisation (mean 4.4 versus 4.7â days) and prognosis (HR (95%) 0.84 (0.40-1.80)) were similar between patients with or without Wuhan-related exposure. In the overall population, the waiting time, but neither treated in Hubei nor Wuhan-related exposure, remained an independent prognostic factor (HR (95%) 1.05 (1.01-1.08)). CONCLUSION: There were more severe cases and poorer outcomes for COVID-19 patients treated in Hubei, which might be attributed to the prolonged duration of symptom onset to hospitalisation in the epicentre. Future studies to determine the reason for delaying hospitalisation are warranted.
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Infecções por Coronavirus/mortalidade , Hospitalização , Pneumonia Viral/mortalidade , Adulto , Idoso , Betacoronavirus , COVID-19 , Doenças Cardiovasculares/epidemiologia , China , Estudos de Coortes , Comorbidade , Infecções por Coronavirus/complicações , Infecções por Coronavirus/diagnóstico por imagem , Tosse/etiologia , Diabetes Mellitus/epidemiologia , Surtos de Doenças , Dispneia/etiologia , Fadiga/etiologia , Feminino , Febre/etiologia , Geografia , Humanos , Hipertensão/epidemiologia , Unidades de Terapia Intensiva/estatística & dados numéricos , Pulmão/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Pandemias , Faringite/etiologia , Pneumonia Viral/complicações , Pneumonia Viral/diagnóstico por imagem , Prognóstico , Modelos de Riscos Proporcionais , Respiração Artificial/estatística & dados numéricos , Estudos Retrospectivos , SARS-CoV-2 , Índice de Gravidade de Doença , Fatores de Tempo , Tempo para o Tratamento/estatística & dados numéricos , Tomografia Computadorizada por Raios XRESUMO
BACKGROUND: Extracorporeal membrane oxygenation (ECMO) is performed as an acceptable life-saving bridging procedure in patients with severe acute respiratory distress syndrome (ARDS).To patients with avian influenza A (H7N9)-associated ARDS, ECMO could be adopted as a feasible therapeutic solution. We present our successful experience with ECMO utilized in a respiratory failure patient with H7N9 infection. CASE PRESENTATION: A 44 years-old female with H7N9-induced ARDS was admitted to intensive care unit (ICU) and was treated with veno-venous ECMO for six days, antiviral therapy, prolonged corticosteroid infusion and other therapies. She suffered significant hemorrhage requiring transfusion of platelets and multidrug-resistant Acinetobacter Baumannii infection during ECMO support. Bleeding and infection almost killed the patient's life. Fortunately, she was alive at last and completly recovered after 38 days of ICU stay. CONCLUSIONS: ECMO was effective in this H7N9 patient with a fatal respiratory failure. Mechanical circulatory support was the only chance for our patient with H7N9-associated ARDS to survive until respiratory function recovery. Early detection and rapid response are essential to these serious ECMO-associated complications such as hemorrhage, thrombosis and infection.
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Influenza Humana/terapia , Síndrome do Desconforto Respiratório/terapia , Adulto , Oxigenação por Membrana Extracorpórea , Feminino , Hemorragia/etiologia , Humanos , Subtipo H7N9 do Vírus da Influenza A , Influenza Humana/complicações , Unidades de Terapia Intensiva , Radiografia Torácica , Síndrome do Desconforto Respiratório/etiologia , Insuficiência Respiratória/terapia , Trombose/etiologia , Tomografia Computadorizada por Raios XRESUMO
BACKGROUND: In the conventional hook-wire technique of pulmonary nodular localisations there are several "blind areas", including the mediastinum-vicinity region, interlobar fissure-neighbouring areas and scapulae-shadowed areas. The present study aims to summarise the experiences of CT-guided microcoil placement as an alternative method for localising pulmonary ground-glass opacity (GGO) lesions before thoracoscopic wedge resections. METHODS: Sixteen GGO lesions at "blind areas" in 16 patients were localised with platinum-fibered microcoils under CT assistance before undergoing video-assisted thoracoscopic surgical resections. Information regarding coil placement, operations and complications was recorded. RESULTS: Of all lesions, 1 was in the mediastinum-vicinity region, 8 were covered by the scapulae, and 7 were close to interlobar fissures (3 horizontal fissures, 4 oblique fissures). All 16 (100%) lesions had been successfully marked with microcoils. No major complications of the puncture procedure occurred; there were only minor pneumothorax (n=2) and haemoptysis (n=1) complications, which required no intervention before operations. All GGO lesions and microcoils were successfully removed by initial wedge resections. Of the 16 lesions in "blind areas", 8 were adenocarcinoma in situ (AIS), 4 were minimally invasive adenocarcinoma (MIA), 3 were atypical adenomatous hyperplasia (AAH), and 1 was interstitial fibrous tissue proliferation. No major complications occurred postoperatively. CONCLUSIONS: For the "blind areas" of the hook-wire technique, CT-guided microcoil placement is an effective method of marking GGO lesions that makes thoracoscopic wedge resection easier.
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Neoplasias Pulmonares/diagnóstico por imagem , Neoplasias Pulmonares/cirurgia , Mediastino/diagnóstico por imagem , Mediastino/cirurgia , Procedimentos Cirúrgicos Torácicos/métodos , Tomografia Computadorizada por Raios X , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
BACKGROUND: Coronavirus disease 2019 (COVID-19) is an emerging, rapidly evolving pandemic, hypertension is one of the most common co-existing chronic conditions and a risk factor for mortality. Nearly one-third of the adult population is hypertensive worldwide, it is urgent to identify the factors that determine the clinical course and outcomes of COVID-19 patients with hypertension. METHODS AND RESULTS: 148 COVID-19 patients with pre-existing hypertension with clarified outcomes (discharge or deceased) from a national cohort in China were included in this study, of whom 103 were discharged and 45 died in hospital. Multivariate regression showed higher odds of in-hospital death associated with high-sensitivity cardiac troponin (hs-cTn) > 28 pg/ml (hazard ratio [HR]: 3.27, 95% confidence interval [CI]: 1.55-6.91) and interleukin-6 (IL-6) > 7 pg/ml (HR: 3.63, 95% CI:1.54-8.55) at admission. Patients with uncontrolled blood pressure (BP) (n = 52) which were defined as systolic BP ≥140 mm Hg or diastolic BP ≥90 mm Hg for more than once (≥2 times) during hospitalization, were more likely to have ICU admission (p = 0.037), invasive mechanical ventilation (p = 0.028), and renal injury (p = 0.005). A stricter BP control with the threshold of 130/80 mm Hg was associated with lower mortality. Treatment with renin-angiotensin-aldosterone system (RAAS) suppressors, including angiotensin-converting enzyme (ACE) inhibitors, angiotensin II receptor blockers (ARB), and spironolactone, was associated with a lower rate of ICU admission compared to other types of anti-hypertensive medications (8 (22.9%) vs. 25 (43.1%), p = 0.048). CONCLUSION: Among COVID-19 patients with pre-existing hypertension, elevated hs-cTn and IL-6 could help clinicians to identify patients with fatal outcomes at an early stage, blood pressure control is associated with better clinical outcomes, and RAAS suppressors do not increase mortality and may decrease the need for ICU admission.
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COVID-19 , Hipertensão , Antagonistas de Receptores de Angiotensina , Inibidores da Enzima Conversora de Angiotensina , China/epidemiologia , Mortalidade Hospitalar , Humanos , Hipertensão/epidemiologia , Estudos Retrospectivos , SARS-CoV-2RESUMO
BACKGROUND: The novel coronavirus disease 2019 (COVID-19) has become a global health emergency. The cumulative number of new confirmed cases and deaths are still increasing out of China. Independent predicted factors associated with fatal outcomes remain uncertain. RESEARCH QUESTION: The goal of the current study was to investigate the potential risk factors associated with fatal outcomes from COVID-19 through a multivariate Cox regression analysis and a nomogram model. STUDY DESIGN AND METHODS: A retrospective cohort of 1,590 hospitalized patients with COVID-19 throughout China was established. The prognostic effects of variables, including clinical features and laboratory findings, were analyzed by using Kaplan-Meier methods and a Cox proportional hazards model. A prognostic nomogram was formulated to predict the survival of patients with COVID-19. RESULTS: In this nationwide cohort, nonsurvivors included a higher incidence of elderly people and subjects with coexisting chronic illness, dyspnea, and laboratory abnormalities on admission compared with survivors. Multivariate Cox regression analysis showed that age ≥ 75 years (hazard ratio [HR], 7.86; 95% CI, 2.44-25.35), age between 65 and 74 years (HR, 3.43; 95% CI, 1.24-9.5), coronary heart disease (HR, 4.28; 95% CI, 1.14-16.13), cerebrovascular disease (HR, 3.1; 95% CI, 1.07-8.94), dyspnea (HR, 3.96; 95% CI, 1.42-11), procalcitonin level > 0.5 ng/mL (HR, 8.72; 95% CI, 3.42-22.28), and aspartate aminotransferase level > 40 U/L (HR, 2.2; 95% CI, 1.1-6.73) were independent risk factors associated with fatal outcome. A nomogram was established based on the results of multivariate analysis. The internal bootstrap resampling approach suggested the nomogram has sufficient discriminatory power with a C-index of 0.91 (95% CI, 0.85-0.97). The calibration plots also showed good consistency between the prediction and the observation. INTERPRETATION: The proposed nomogram accurately predicted clinical outcomes of patients with COVID-19 based on individual characteristics. Earlier identification, more intensive surveillance, and appropriate therapy should be considered in patients at high risk.
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Aspartato Aminotransferases/sangue , Doenças Cardiovasculares/epidemiologia , Infecções por Coronavirus , Dispneia , Pandemias , Pneumonia Viral , Pró-Calcitonina/sangue , Idoso , Betacoronavirus/isolamento & purificação , COVID-19 , China/epidemiologia , Infecções por Coronavirus/sangue , Infecções por Coronavirus/diagnóstico , Infecções por Coronavirus/mortalidade , Infecções por Coronavirus/fisiopatologia , Correlação de Dados , Dispneia/epidemiologia , Dispneia/etiologia , Feminino , Humanos , Masculino , Nomogramas , Pneumonia Viral/sangue , Pneumonia Viral/diagnóstico , Pneumonia Viral/mortalidade , Pneumonia Viral/fisiopatologia , Prognóstico , Medição de Risco/métodos , Fatores de Risco , SARS-CoV-2 , Análise de SobrevidaRESUMO
BACKGROUND: Coronavirus disease 2019 (COVID-19) has been a global pandemic disease, with more than 4 million cases and nearly 300,000 deaths. Little is known about COVID-19 in patients with chronic obstructive pulmonary disease (COPD). We aimed to evaluate the influence of preexisting COPD on the progress and outcomes of COVID-19. METHODS: This was a multicenter, retrospective, observational study. We enrolled 1,048 patients aged 40 years and above, including 50 patients with COPD and 998 patients without COPD, and with COVID-19 confirmed via high-throughput sequencing or real-time reverse transcription-polymerase chain reaction, between December 11, 2019 and February 20, 2020. We collected data of demographics, pathologic test results, radiologic imaging, and treatments. The primary outcomes were composite endpoints determined by admission to an intensive care unit, the use of mechanical ventilation, or death. RESULTS: Compared with patients who had COVID-19 but not COPD, those with COPD had higher rates of fatigue (56.0% vs. 40.2%), dyspnea (66.0% vs. 26.3%), diarrhea (16.0% vs. 3.6%), and unconsciousness (8.0% vs. 1.7%) and a significantly higher proportion of increased activated partial thromboplastin time (23.5% vs. 5.2%) and D-dimer (65.9% vs. 29.3%), as well as ground-glass opacities (77.6% vs. 60.3%), local patchy shadowing (61.2% vs. 41.4%), and interstitial abnormalities (51.0% vs. 19.8%) on chest computed tomography. Patients with COPD were more likely to develop bacterial or fungal coinfection (20.0% vs. 5.9%), acute respiratory distress syndrome (ARDS) (20.0% vs. 7.3%), septic shock (14.0% vs. 2.3%), or acute renal failure (12.0% vs. 1.3%). Patients with COPD and COVID-19 had a higher risk of reaching the composite endpoints [hazard ratio (HR): 2.17, 95% confidence interval (CI): 1.40-3.38; P=0.001] or death (HR: 2.28, 95% CI: 1.15-4.51; P=0.019), after adjustment. CONCLUSIONS: In this study, patients with COPD who developed COVID-19 showed a higher risk of admission to the intensive care unit, mechanical ventilation, or death.
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Mendelian Susceptibility to Mycobacterial Diseases (MSMD) is a primary immunodeficiency disease (PID) characterized by variable susceptibility to weakly virulent mycobacteria (Bacille Calmette-Guerin, BCG) and various intramacrophagic bacteria, fungi, parasites. Mycobacterial disease generally begins in childhood, more rarely during adolescence and adulthood. The pathogenesis of MSMD is the inherited impaired production of interferon gamma (IFN-γ) or inadequate response to it. Autosomal recessive IL12RB1 deficiency is the most common genetic etiology of MSMD. Here we identified three novel compound heterozygous mutations in IL12RB1 gene (c.635G>A, c.765delG; c.632G>C, c.847C>T; c.64G>A, c.1673insGAGCTTCCTGAG) in three Chinese families with MSMD.
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Predisposição Genética para Doença , Heterozigoto , Infecções por Mycobacterium/genética , Mutação Puntual , Receptores de Interleucina-12/genética , Povo Asiático , China , Feminino , Humanos , Lactente , Interferon gama/genética , Interferon gama/imunologia , Masculino , Infecções por Mycobacterium/imunologia , Receptores de Interleucina-12/imunologiaRESUMO
OBJECTIVE: To describe the treatment and diagnosis of pulmonary aspergilloma. METHODS: The clinical data of 40 cases of pulmonary aspergilloma were analyzed. RESULTS: There were 24 men and 16 women, aged 16-61 years. There were 37 cases with pulmonary tuberculosis with cavity or bronchiectasis Hemoptysis, cough, fever and sweat were present in 33, 5, and 3 cases respectively. The discontinuity repeatedly haemoptysis with a little (< 20 ml/time) were 27 cases. A correct diagnosis of aspergilloma was made in 60% cases (n = 24) before surgery. Lobectomy was performed in 39 cases, and unilateral lung removal in 1 case. Following surgery, 39 cases were cured, and 1 case died. CONCLUSION: Pulmonary aspergilloma occurs mostly in middle-aged patients with cavitary or bronchiectatic pulmonary tuberculosis. Misdiagnosis of both the underlying tuberculosis and aspergilloma was common before surgery. Surgery is indicated for patients with heavy hemoptysis, but the value of antifungal therapy needs further studies.
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Aspergilose Pulmonar/diagnóstico , Aspergilose Pulmonar/terapia , Adolescente , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Aspergilose Pulmonar/cirurgia , Adulto JovemRESUMO
BACKGROUND: Pulmonary inflammatory myofibroblastic tumor (PIMT) is a rare disease in China and its incidence is much lower than that of tuberculosis. PIMT accounts for only 0.04-1.2% of all lung tumors. PIMT can occurs in any age and nearly every part of the body. The clinical symptoms and radiological features of PIMT are nonspecific. Diagnosis is only made on the basis of histopathologic or immunohistochemical evaluation of the postoperation resected tissue. The therapeutic approach to PIMT should rely mainly on complete surgical resection. CASE PRESENTATION: We report a case of PIMT with hemoptysis. The girl was misdiagnosed with tuberculosis and treated with anti-tuberculous drugs for a long period of time. A right upper and middle lobectomy was performed and further assessment of the tissue demonstrated a pathologic diagnosis of PIMT. CONCLUSIONS: Despite a high incidence of tuberculosis, we must consider the possibility of PIMTs in such cases to prevent misdiagnosis and mistreatment.
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Hemoptise/etiologia , Neoplasias Pulmonares/diagnóstico , Neoplasias de Tecido Muscular/diagnóstico , Tuberculose Pulmonar/diagnóstico , Pré-Escolar , Diagnóstico Diferencial , Feminino , Hemoptise/diagnóstico , Humanos , Neoplasias Pulmonares/complicações , Neoplasias Pulmonares/cirurgia , Neoplasias de Tecido Muscular/complicações , Neoplasias de Tecido Muscular/cirurgia , Pneumonectomia , Doenças RarasRESUMO
The mediastinal lymph node tuberculous abscesses (MLNTAs) are secondary to mediastinal tuberculous lymphadenitis. Surgical excision is often required when cold abscesses form. This study was aimed to examine video-assisted thoracoscopic surgery (VATS) for the treatment of MLNTA. Clinical data of 16 MLNTA patients who were treated in our hospital between December 1, 2013 and December 1, 2015 were retrospectively analyzed. All of the patients underwent the radical debridement and drainage of abscesses, and intrathoracic lesions were removed by VATS. They were also administered the intensified anti-tuberculosis treatment (ATT), and engaged in normal physical activity and follow-up for 3 to 6 months. The results showed that VATS was successfully attempted in all of the 16 MLNTA patients and they all had good recovery. Two patients developed complications after surgery, with one patient developing recurrent laryngeal nerve injury, and the other reporting poor wound healing. It was concluded that VATS is easy to perform, and safe, and has high rates of success and relatively few side-effects when used to treat MLNTA.
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Abscesso/cirurgia , Linfonodos/cirurgia , Mediastino/cirurgia , Mycobacterium tuberculosis/patogenicidade , Cirurgia Torácica Vídeoassistida/métodos , Tuberculose dos Linfonodos/cirurgia , Abscesso/diagnóstico , Abscesso/microbiologia , Abscesso/patologia , Adulto , Feminino , Humanos , Excisão de Linfonodo/instrumentação , Excisão de Linfonodo/métodos , Linfonodos/microbiologia , Linfonodos/patologia , Masculino , Mediastino/microbiologia , Mediastino/patologia , Pessoa de Meia-Idade , Mycobacterium tuberculosis/fisiologia , Cirurgia Torácica Vídeoassistida/instrumentação , Resultado do Tratamento , Tuberculose dos Linfonodos/diagnóstico , Tuberculose dos Linfonodos/microbiologia , Tuberculose dos Linfonodos/patologiaRESUMO
BACKGROUND: Incompleteness of interlobar fissures and pleural adhesions, common in tuberculous destroyed lung (TDL), are among "technical contraindications" for video-assisted thoracoscopic surgery (VATS). The efficacy and safety of VATS in the treatment of TDL, has not yet been detailed in. OBJECTIVE: The objective of the present study is to observe the efficacy and safety of VATS in the management of TDL. METHODS: A retrospective review of anatomic lobectomy by VATS on 29 cases of TDL was performed in the Department of Thoracic Surgery of Wuhan Medical Treatment Center between October 2010 and October 2013. RESULTS: All the 29 surgeries by VATS were successfully completed. No death case was reported. Operative duration of VATS was 75~400 min, with an average of 185.4 min; intraoperative amount of bleeding ranged 50 to 2300 ml, with an average of 575.6 ml; the incidence of postoperative complication was 21.4% (6/28). Postoperative complications occurred in 6 cases, among which there were 2 cases of persistent postoperative pulmonary air leak, 2 cases of pleural effusion, one case of thoracic hemorrhage and one case of arrhythmia complicated with left heart failure. There was one patient who was converted from VATS to open thoracic surgery half-way. CONCLUSION: Our results have shown the efficacy, safety and a breakthrough in the "technical contraindications" of VATS in the management of TDL.
RESUMO
Intrathoracic meningocele associated with neurofibromatosis type 1 is quite rare. We report the case of a Chinese women with a 20-day history of right-sided chest pain and sense of pressure on the chest. Computed tomography and magnetic resonance imaging indicated a homogeneous thin-walled cystic mass in the right rear mediastinum, ranging from the 1st to 5th thoracic segments. Surgery was performed to removal the meningomyelocele pouches and shunt the cyst to the subarachnoid region.