This case report presents a 16-year-old male patient with deficiency of adenosine deaminase 2(DADA2). The patient had a history of Raynaud′s phenomenon with digital ulcers since childhood. As the disease progressed, the patient developed retinal vasculitis, intracranial hemorrhage, skin necrosis, severe malnutrition, refractory hypertension, and gastrointestinal bleeding. Genetic testing revealed compound heterozygous mutations in the ADA2 gene (paternal c.1072G > A pathogenic mutation + maternal c.1065C > A variant of unknown clinical significance). ADA2 enzyme activity was significantly reduced (0.1 U/L). A multidisciplinary treatment team developed an individualized plan to address key issues, including nutritional support, blood pressure control, rehabilitation, pain management, and balancing anticoagulation/bleeding risks. After systematic intervention, the patient′s condition showed partial improvement. This case reveals clinical challenges such as anticoagulation decisions and nutritional support of DADA2. It also emphasizes the importance of early molecular diagnosis, tumor necrosis factor-α inhibitor targeted therapy, and multidisciplinary collaboration in management, underlining the core value of precision medicine in rare disease management.

Objective: To study the clinical characteristics of 2019 coronavirus (2019-nCoV) pneumonia patients and make a feasible screening process in fever clinic. Methods: Epidemiologic features, clinical presentation, laboratory findings and image features of the screened patients were retrospectively collected and analyzed. Results: Totally, 46 patients were screened, 9 of them were laboratory-confirmed 2019-nCoV infection, and others were defined as laboratory-excluded patients. Laboratory-confirmed patients had higher frequency of travelling or residence in Wuhan within two weeks of onset (P<0.05), but there were no differences on age, sex, other epidemiologic features and comorbidities between the two groups (P>0.05). The most common feature of the laboratory-confirmed patients was fever (100%), but the symptoms showed no differences between the two groups (P>0.05). Laboratory-confirmed patients had lower white blood cell count than the laboratory-excluded patients (P<0.05), and all of them had pneumonia in chest CT scan. None of the patients with normal chest CT had positive 2019-nCoV nucleic acid test. Conclusions No specific symptom was helpful in the diagnosis of 2019-nCoV infection. However, patients without chest CT scan changes had a very low risk of 2019-nCoV infection despite of the epidemiologic history and fever. We recommended a screening procedure that might be helpful to reduce the rate of miss diagnosis and improve screening efficiency.

Objective: To investigate the characteristics and prognostic value of peripheral blood T lymphocyte subsets in patients with severe influenza. Methods: This was a single-center cross-sectional study in influenza patients admitted to Peking Union Medical College Hospital from August 2017 to April 2018. Peripheral blood lymphocyte subsets were detected by flow cytometry in both patients and 108 healthy controls. Influenza patients were divided into mild group and severe group. Severe patients were further classified into alive and fatal subgroups. Results: A total of 42 influenza patients were recruited in this study, including 24 severe cases (6 deaths). The remaining 18 cases were mild. The peripheral blood lymphocyte counts and lymphocyte subset counts (B, NK, CD4⁺T, CD8⁺T) in either mild patients[795 (571,1 007), 43 (23,144), 70 (47,135), 330 (256,457), 226 (148,366) cells/μl respectively] or severe patients[661 (474,1 151),92 (52,139), 54 (34,134), 373 (235,555), 180 (105,310) cells/μl respectively] were both significantly lower than those of healthy controls [1 963 (1 603,2 394),179 (119,239), 356 (231,496), 663 (531,824), 481 (341,693) cells/μl respectively]. Meanwhile, the T cells and CD8⁺T counts in fatal patients [370 (260,537) cells/μl and 87 (74,105) cells/μl] were significantly lower than those in severe and alive patients [722 (390,990) cells/μl and 222 (154,404) cells/μl]. CD8⁺HLA-DR/CD8⁺and CD8⁺CD38⁺/CD8⁺T cell activating subgroups in mild cases[(53.7±19.2)% and 74.8% (64.1%,83.7%) respectively] were significantly higher than those in severe cases[(38.5±21.7)% and 53.3% (45.3%,67.2%) respectively].Moreover,CD8⁺HLA-DR/CD8⁺count in severe and alive group was higher than that in fatal group [(46.1±19.1)% vs. (18.2±14.6)%, P<0.01]. Logistic regression analysis showed that CD8⁺T cell count (OR=0.952, 95%CI 0.910-0.997, P=0.035) and CD8⁺HLA-DR/CD8⁺T (OR=0.916, 95%CI 0.850-0.987, P=0.022) were both negatively correlated with mortality.Peripheral blood lymphocyte counts in mild cases rapidly decreased within 1 day after diagnosis, and returned to the basic level one week later. Conclusions All peripheral blood lymphocyte subsets (T,B,NK) in patients with influenza are significantly reduced. These findings are consistent with the immunological characteristics of respiratory viral infections, in which peripheral lymphocytes (especially T cells) migrate to respiratory tract in the early stage and circulate to the peripheral blood after recovery. The activated CD8⁺T cell counts in peripheral blood are negatively correlated with the severity of disease, which could be considered as a prognostic indicator of severe influenza.

Objective:To study the clinical characteristics of novel coronavirus pneumonia (COVID-19) patients and make a feasible screening process in fever clinic.Methods:Epidemiologic features, clinical presentation, laboratory findings and image features of the screened patients were retrospectively collected and analyzed.Results:A total of 46 patients were screened, 9 of them were laboratory-confirmed novel coronavirus infection, and others were defined as laboratory-excluded patients. Laboratory-confirmed patients had higher frequency of travelling or residence in Wuhan within two weeks of onset ( P<0.05), but there were no differences on age, sex, other epidemiologic features and comorbidities between the two groups ( P>0.05). The most common feature of the laboratory-confirmed patients was fever (100%), but the symptoms showed no differences between the two groups ( P>0.05). Laboratory-confirmed patients had lower white blood cell count than the laboratory-excluded patients ( P<0.05), and all of them had pneumonia in chest CT scan. None of the patients with normal chest CT had positive novel coronavirus nucleic acid test. Conclusions:No specific symptom is helpful in the diagnosis of novel coronavirus infection. However, patients without chest CT scan changes have a very low risk of novel coronavirus infection despite of the epidemiologic history and fever. We recommended a screening procedure that might help to reduce the rate of miss diagnosis and improve screening efficiency.

To summarize the clinical characteristics and chest CT findings of coronavirus disease 2019(COVID-19)patients in Peking Union Medical College Hospital(PUMCH). A total of 13 patients with COVID-19 confirmed at PUMCH from January 20 to February 6,2020 were selected as the research subjects.Their epidemiological histories,clinical characteristics,laboratory tests,and chest CT findings were analyzed retrospectively.The location,distribution,density,and other accompanying signs of abnormal lung CT lesions were recorded,and the clinical types of these patients were assessed. The clinical type was "common type" in all these 13 patients aged(46.8±14.7)years(range:27-68 years).Ten patients had a travel history to Wuhan or direct contact with patients from Wuhan,2 cases had recent travel histories,and 1 case had a travel history to Beijing suburb.The white blood cell(WBC)count was normal or decreased in 92.3% of the patients and the lymphocyte count decreased in 15.4% of the patients.Twelve patients(92.3%)had a fever,among whom 11 patients were admitted due to fever and 2 patients(15.4%)had low fever.Eight patients(61.5%)had dry cough.The CT findings in these 13 patients were all abnormal.The lesions were mainly distributed along the bronchi and under the pleura.The lesions were relatively limited in 8 patients(affecting 1-3 lobes,predominantly in the right or left lower lobe),and diffuse multiple lesions of bilateral lungs were seen in 5 patients.The CT findings mainly included ground glass opacities(GGOs)(=10,76.9%),focal consolidation within GGOs(=7,53.8%),thickened vascular bundle passing through the lesions(=10,76.9%),bronchial wall thickening(=12,92.3%),air bronchogram(=10,76.9%),vacuole signs in the lesions(=7,53.8%),fine reticulation and interlobular septal thickening(=3,23.1%),reversed halo-sign(=2,15.4%),crazy-paving pattern(=2,15.4%),and pleural effusion(=2,15.4%). Most of our patients diagnosed with COVID-19 at PUMCH had a travel history to Wuhan or direct contact with patients from Wuhan.The first symptoms of COVID-19 mainly include fever and dry cough,along with normal or reduced counts of WBC and lymphocytes.CT may reveal that the lesions distribute along the bronchi and under the pleura;they are typically localized GGOs in the early stage but can become multiple GGOs and infiltrative consolidation in both lungs in the advanced stage.Scattered vacuole signs may be visible inside the lesions in some patients.
Adult ; Aged ; Betacoronavirus ; Coronavirus Infections ; diagnostic imaging ; Humans ; Lung ; Middle Aged ; Pandemics ; Pneumonia, Viral ; diagnostic imaging ; Retrospective Studies ; Tomography, X-Ray Computed

Acute pancreatitis is a common disease,the mortality of severe acute pancreatitis (SAP) is high and early enteral nutrition can effectively reduce the complications and mortality of SAP.However,it is difficult to complete the whole course of enteral nutrition in the hospital,so that home enteral nutrition(HEN) becomes necessary.The main limitation of HEN is the occurrence of various problems in the procedure.This article is intended to explore and summarize the problems related to HEN,including mechanical complications,gastrointestinal side effects,metabolic problems,infection,and psychologic problems,expense,quality of life and others.In consideration of these problems,we also give feasible suggestions for HEN.

Objective To establish a practicable and easily mastered emergency department overcrowding (EDO) assessment system suitable for domestic ED setting by determining the validity and usefulness of the national emergency department over-crowding study (NEDOCS) tool in a 2000-bed tertiary care academic institution in China in comparison with visual analogue scale (VAS) in order to address the worldwide grave concern of EDO.Methods In a period of 6 months,data of subjective and objective EDO assessed simultaneously three times a day (1:00,9:00,17:00) were collected.The data were analyzed by using Bland-altmann method and Kappa test to determine the coincidence between VAS and NEDOCS assessments.Results The VAS-p value evaluated by physicians was significantly lower than VAS-n value evaluated by nurses [(6.49 ± 1.82) vs.(7.12 ± 1.78),P ＜ 0.01].The reliability analysis showed that Kappa value was as low as 0.112 (P ＜0.01) suggesting there was a great discrepancy between VAS-p value and VAS-n value.VAS-m (average value of VAS-p and VAS-n) was taken for comparing different evaluation systems.The significant correlation was found between the VAS-m and NEDOCS (r =0.7l4,P ＜0.01).However,the Bland-Altman plot showed the 95％ limit of coincidence was in an extensive range (-32.47 to 71.42) suggesting discrepancy existed between two methods.Conclusions The present study suggested there was a significant discrepancy between the two subjective assessments of ED crowding (VAS-p vs.VAS-n).There might be a fatal flaw existed in the assumptions of the original VAS method for EDO measurement.Using the Bland-Altman plot analysis,the results showed that NEDOCS did not authentically reflect the staff' s sense of overcrowding in the ED.It is very important and urgent to establish an objective and effective EDO evaluation system for ED management.

Objective Emergency department overcrowding (EDO) is an increasingly international occurrence which affects the quality and access of health care across the globe.We assessed perceptions of EDO by a detailed and comprehensive surveying of current international research literatures.Methods Through PubMed and BMC electronic literatures search engines from 1974 to 2012,1587 papers of original articles,reviews and comments with key wordsemergency departmentANDcrowding OR overcrowding are selected.Results 52.6％ (835/1587) all selected literatures is original research articles.21.2％ (n =337) of these papers involved the disciplinary construction of emergency medicine,and editorial comment (included viewpoints) holds almost one fifth (302,19.0％).Most common types of study methods in all original researches is single-center cohort study (722/835,86.5％),and none of them was multi-center,randomized control clinical trial.The number of papers on EDO is 8 during 1974 and 1988,and gradually elevated to 325 during 1989 and 2002.Yet the number has climbed up to 1254 dramatically (account for 79％) during 2003 and 2012.Together,USA,Canada and Austria,these three countries generated more than three-quarters of all published literatures (81.0％).So far,the authors in 48 countries and areas gave forth initial contributions in the field of EDO.Conclusions The studies and papers about EDO are steadily increasing in recent years.But the investigation shows the research quality still remain need to improve.This systemic review on EDO studies showed that the standardized measurement of EDO has become the bottleneck of EDO study.It is very important and urgent for ED staff to establish an objective and effective EDO evaluation system.

Objective To study the variation in numbers of patients attended in the Emergency Department (ER) of a large - scale teaching hospital during weekends or holidays and workdays in order to find out an objective criterion for the assessment of ER overcrowding and the regularity of ER overcrowding.Methods It was a prospective observational study of variation in number of.patient attended in ER during different periods of time round the clock observed from May 1 through October 31 in 2008 -2010 with 110000 emergency patients annually.The roles of diurnal rhythm,holiday phenomenon and medical coverage in the variation in numbers of patients were observed.The multiple logistic regression analysis was used to define the criterion of ED overcrowding.Results During workdays,the regularity of variation in number of critically ill patients seen to in ER was distinctive,the number of patients peaked in the period of 20:00 -22:00 and bottomed out in the period of 4:00 -6:00,while overcrowding scores of both peak and bottom were carried out 2 hours later.The number of emergency patients significantly increased at weekends and long holidays in a form of double peaks,from 10 am to 12 pm and 8 pm to 10 pm.The number of emergency patients was obviously determined by the provisions of medical coverage,but it was only true to non - critical patients,while the number of critical patients did not noticeably change during weekends or holydays.Multivariate regression analysis showed that the number of emergency patient attended in ER ( B =0.027,P ＜0.01 ) and the rate of emergency bed occupancy ( B =5.25,P ＜0.01 ) in the period of two hours significantly correlated with the ER overcrowding in the coming period of two hours (B =0.027,P ＜0.01,B =5.25,P ＜ 0.01,respectively).Conclusions The demand for critical care resources varies up and down all the time.The variation in volume of critical patients is quite regular during workdays and weekdays or holydays.It is important to separate critical patients from non - critical patients in order to divert non - critical patients quickly.Prediction of overcrowding in ER can be made with knowledge of the number of patient attended and the rate of bed occupancy,if the provisions of medical coverage unchanged.This regularity of variation in number of patients can be used as a practical guidance to rational allocation of critical care resources and improvement of patient throughput.