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Blau syndrome is a rare genetic disorder characterized by the a mix of granulomatous arthritis, uveitis, and dermatitis. Patients typically manifest multisystem involvement, including ocular, skin, and skeletal abnormalities. Blau syndrome is extremely rare, with a global incidence of less than one in a million among children. In this multidisciplinary consultation, we present a case of a 21-year-old young female patient having multisystemic involvement since early childhood. She was presented with multiple joint swelling, skin lesions, increased eye discharge, and accompanied by hypertension and arterial abnormalities, and received a diagnosis of uveitis. The patient had been receiving steroid treatment since the age of 6 and has tried various medications, with some improvement in joint swelling and ocular symptoms. Through this rare disease multidisciplinary consultation, we aim to provide guidance in the molecular diagnosis of the patient, multisystem assessment, and the selection and formulation of treatment plans. Additionally, we hope that by reporting this case, clinical physicians can gain a better understanding of the diagnosis and comprehensive treatment strategies for Blau syndrome, thereby improving the management and treatment of rare diseases.
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We wished to summarize the clinical features of common variable immunodeficiency (CVID) complicated by non-cirrhotic portal hypertension (NCPH) and to deepen our understanding of it. The case data of CVID complicated with NCPH admitted to Peking Union Medical College Hospital from January 1983 to May 2021 were analyzed retrospectively to summarize their clinical characteristics. Six patients with CVID combined with NCPH (three of each sex; 16-45 years) were assessed. Four patients had portal hypertension. All patients had anemia, splenomegaly, a normal serum level of albumin and transaminases, and possibly increased levels of alkaline phosphatase and gamma-glutamyl transpeptidase. Two patients were diagnosed with esophagogastric fundic varices by gastroscopy. Two patients underwent splenectomy (which improved hematologic abnormalities partially). Four patients had autoimmune disease. Two cases were diagnosed with nodular regenerative hyperplasia (NRH) upon liver biopsy. Six patients were administered intravenous immunoglobulin-G (0.4-0.6 g/kg bodyweight) once every 3-4 weeks as basic therapy. Often, CVID complicated with NCPH has: (1) The manifestations of portal hypertension as the primary symptom. (2) Autoimmune-related manifestations. Imaging can provide important diagnostic clues. The etiology may be related to hepatic NRH and splenomegaly due to recurrent infections.
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Objective:To analyze the clinical characteristics of hospitalized premenopausal patients with hyperuricemia.Methods:The medical records of premenopausal women with hyperuricemia (serum uric acid ≥360 μmol/L during hospitalization) admitted in Peking Union Medical College Hospital from 2013 to 2018 were reviewed and the clinical data were analyzed.Results:A total of 2 099 patients were enrolled. Only 14.01% (294 cases) of the patients were concerned about hyperuricemia by physicians. Autoimmune diseases (32.11%, 674 cases), nephrotic disease (19.29%, 405 cases) and endocrine system diseases (9.72%, 204 cases) are the main reasons for hospitalization, while 6.34%(133 cases) of patients were in gestation. In terms of the etiology, renal diseases (49.35%, 1 035 cases), specific drug use (49.26%, 1 034 cases) were the main causes of secondary hyperuricemia in premenopausal women, followed by metabolic diseases (10.62%, 233 cases). There was no significant difference in serum uric acid level among premenopausal women of different ages ( H=4.47, P=0.107), but the etiology of hyperuricemia among patients of different ages had significant differences. The proportion of hyperuricemia in patients with cancer and metabolic syndrome,secondary to use of diuretics and anti-tuberculosis drugs had differences among different age groups ( χ2=90.96,52.89,19.26 and 6.41, P<0.05). Conclusion:Hyperuricemia is not uncommon in premenopausal women. There are many secondary factors leading to hyperuricemia in premenopausal women, among which drugs and renal lesions are the main causes. In addition, the secondary factors in women with hyperuricemia has differences among different age groups.
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Objective:To explore the impact of Coronavirus disease 2019 (COVID-19) epidemic on career choosing perspective among medical students and to analyze the related factors.Methods:Semi-structured telephone interviews were conducted during March 1-25 2020 among 19 medical students of 8-year program from Peking Union Medical College. The grounded theory and thematic analysis were applied to code the data and identify categories and factors.Results:Among the 19 respondents aged 19-26 years, 9 were males and 10 were female; 10 were at the clinical stage, and 9 were at the premedical stage; 3 respondents had family members involved in medical profession. Thematic analysis identified 6 main categories that affect the variability of medical students' career prospects under the COVID-19 pandemic. The 6 themes were individual characteristics of students; occupational characteristics; systemic factors; COVID-19 events; stressors of physicians and influence of job satisfaction.The outbreak affected everyone's mind of future career to varying degrees. The participants had been exposed to more negative aspects, while only one participant changed her career intention. There were conflicting views on whether to choose some specialties in future, such as respiratory medicine, infectious disease and critical care medicine. The participants feel more pressure as a doctor from the attitude of the public. Almost all participants mentioned feeling unsafe due to the high risk of occupational exposure and doctor-patient relationships. Most valued the support from their family, faculty, classmates, and volunteers. Many participants expressed their hope to improve the medical policies and systems.Conclusions:The influence of COVID-19 outbreak on medical students' career choosing can be positive as well as negative in different degrees. However, we found no evidence that it altered their perspectives substantially.
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Objective:To analyze the clinical manifestation, laboratory examination, treatment and prognosis of common variable immunodeficiency (CVID) in single center of Chinese population.Methods:The clinical data of 75 cases of CVID, diagnosed according to European Society for Immunodeficiency (ESID) criteria and admitted in Peking Union Medical College Hospital from January 1983 to May 2021 were retrospectively analyzed.Results:The main clinical manifestations of CVID were respiratory abnormality (68.0%,51/75), blood system abnormality (66.7%,50/75), liver and spleen involvement (66.7%,50/75), gastrointestinal abnormality (46.7%,35/75), autoimmune abnormality (29.3%,22/75). Immunoglobulin decreased significantly (median IgG 2.4 g/L, median IgA 0.1 g/L, median IgM 0.1 g/L). Lymphocyte subsets indicated that CD4 +T cells decreased (median 471/μl), CD8 +T cells increased (median 620/μl), CD4 +/CD8 +T calls proportion inverted (median 0.7), and NK cells and B cells decreased (median 44/μl, 115/μl, respectively). During hospitalization, their conditions were improved after IgG replacement therapy, supplemented with anti-infection and nutritional support therapy. Forty seven discharged patients were followed up, and only 16 patients insisted on regular IgG replacement therapy after discharge. Conclusions:The clinical manifestations of CVID are varied, and multiple systems may be involved, including autoimmune abnormalities. The treatment based on IgG replacement has a certain curative effect.
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We presented an adolescent with recurrent intracranial hemorrhage and skin lesion. The diagnosis was unclear and the treatment was difficult. Through a multidisciplinary effort type Ⅰ interferon disease was suspected and later, an interferon-stimulated gene was further detected. Considering the high morbidity and fatality rate of recurrent intracranial hemorrhage, tofacitinib and hydroxychloroquine were administered. After treatment, the livedo reticularis was significantly regressed. Unfortunately, the intracranial hemorrhage recurred due to a pre-existing cerebral aneurysm, leading to death of the patient. The diagnosis and treatment of this case highlight the importance of multidisciplinary collaboration in the diagnosis and treatment of difficult and rare diseases.
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Objective:To analyze the clinical features, treatment efficacy and prognosis of cavernous lymphangioma.Methods:The clinical manifestations, laboratory findings, imaging examinations and treatment of 8 patients with pathology-diagnosed cavernous lymphangioma admitted in Peking Union Medical College Hospital from January 1990 to July 2020 were retrospectively analyzed.Results:All the patients were female. The onset age ranged from 0 to 58 years, with a course of 24 (5,78) months. There were 2 cases of abdominal mass, 2 cases of axillary mass, 1 case of neck mass, 1 case of inguinal mass, 1 case of mandibular mass and 1 case of pleural and peritoneal effusion. Seven cases had adult onset and 1 case had congenital onset. Two patients had had history of surgery adjacent to lesion sites. Contrast-enhanced CT scan showed a low-density round mass with no significant enhancement in 5 patients. Seven patients underwent complete resection of the mass, 1 patient received partial resection and intervention with medium-chain fatty-acid diet. During the follow-up, 4 patients were stable after 3.5 (1.3-17.8) years, while 2 patients relapsed 1 and 13 year after surgery, respectively. Additionally, one patient was diagnosed with Bowen disease.Conclusion:Cavernous lymphangioma can be congenital or acquired and usually occurs in female. The body mass is the common clinical manifestation; and surgery is the most common treatment, but it is prone to relapse and requires long-term follow-up.
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Gout is a crystal associated arthritis caused by monosodium urate (MSU) accumulating in joint, and it belongs to metabolic rheumatic disease. In China, gout is common but it is insufficient for education of standardized diagnosis and treatment for gout. Based on the evidence and guidelines from China and other countries, Chinese gout Collaborative Research Group developed standardization of diagnosis and treatment of gout in China. The purpose is to standardize the methods for diagnosis of gout, treatment opportunity and strategies in order to reduce misdiagnosis, missed diagnosis and irreversible damage.
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A questionnaire survey was conducted among 14senior residents or fellows who received the attending ward-round training in Department of General Internal Medicine of Peking Union Medical College Hospital during the period from January 2015 to September 2018.The attitudes and suggestions towards the training program,and to what extent they benefited from the program were assessed.Based on Visual Analog Scale (VAS),the mean score on general training improvement was (8.29± 1.25).The self-reported benefits in decision making,teaching skills and leadership of residents participating in the attending ward-round training program were significantly higher than those receiving regular rotating and training(t=5.53,7.78,13.00;P＜0.01).Eight respondents suggested that the training frequency could be increased from once a week to at least twice a week and 10 respondents wished that the supervisors could give feedback on their decision-making performance as quickly as possible after the attending round.The training program"attending ward-round by senior resident"facilitates to improve the competency of rotating senior residents,which may be worth extending to more hospitals.
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[Summary] With the improvement of people′s living conditions and the prolonged lifespan,gout and hyperuricemia have increasingly become common chronic diseases in daily clinical practice for other physicians in addition to rheumatologists, even including general practitioners and primary care doctors. The European League Against Rheumatism (EULAR) firstly issued recommendations on gout diagnosis and management in 2006, which has been updated several times. Using a Delphi consensus approach, 2018 updated European League Against Rheumatism evidence?based recommendations for the diagnosis of gout finally formulated eight main recommendations, which was published online in June 2019. Not only does this edition emphasize the role of specialists, joint puncture or tophus aspirates and ultrasound in diagnosis, but also calls on all clinicians to pay more attention to risk factors of gout and associated comorbidities.
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With the improvement of people′s living conditions and the prolonged lifespan, gout and hyperuricemia have increasingly become common chronic diseases in daily clinical practice for other physicians in addition to rheumatologists, even including general practitioners and primary care doctors. The European League Against Rheumatism (EULAR) firstly issued recommendations on gout diagnosis and management in 2006, which has been updated several times. Using a Delphi consensus approach, 2018 updated European League Against Rheumatism evidence-based recommendations for the diagnosis of gout finally formulated eight main recommendations, which was published online in June 2019. Not only does this edition emphasize the role of specialists, joint puncture or tophus aspirates and ultrasound in diagnosis, but also calls on all clinicians to pay more attention to risk factors of gout and associated comorbidities.
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A questionnaire survey was conducted among 14 senior residents or fellows who received the attending ward-round training in Department of General Internal Medicine of Peking Union Medical College Hospital during the period from January 2015 to September 2018. The attitudes and suggestions towards the training program, and to what extent they benefited from the program were assessed. Based on Visual Analog Scale (VAS), the mean score on general training improvement was (8.29±1.25). The self-reported benefits in decision making, teaching skills and leadership of residents participating in the attending ward-round training program were significantly higher than those receiving regular rotating and training (t=5.53, 7.78, 13.00; P<0.01). Eight respondents suggested that the training frequency could be increased from once a week to at least twice a week and 10 respondents wished that the supervisors could give feedback on their decision-making performance as quickly as possible after the attending round. The training program "attending ward-round by senior resident" facilitates to improve the competency of rotating senior residents, which may be worth extending to more hospitals.
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In order to improve the professional competence of in-service general practitioners and improve the effectiveness of standardized residency training, it is necessary to carry out training with the specific problems encountered in the practice. Taking Gaobeidian Community Health Service Center as an example, the characteristics, process and precautions of the general practice case discussion model based on the real scene of the community health institutions are introduced in the article. It would provide reference for improving the teaching effectiveness and efficiency in the training base of general practice.
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Objective To evaluate senior resident training program "resident team leader in the Department of General Internal Medicine" at Peking Union Medical College Hospital.Methods We surveyed the residents or the fellows who had been selected as resident team leaders and received the training from October 2014 to September 2018 on their comments and suggestions.Results Twenty-two rotated senior residents who were selected as team leaders in the Department of General Internal Medicine completed the survey.Almost all(21/22,95.5％) of the respondents reported that they learnt more in general as team leaders by Visual Analog Scale (VAS).The mean VAS scores of clinical skills were 7.23±1.27,7.86± 1.32 in teaching abilities,8.14±0.89 in leadership evaluation.Scales as chief resident assistants were 8.44± 1.26.Sixteen respondents (72.7％)considered that pre-job training by attending doctors was necessary.Another 8 (36.4％)respondents addressed their demands on training of teaching skills.Conclusions The senior resident training program "resident team leader in the Department of General Internal Medicine" improves the competency of rotated senior residents.It is a valuable pilot study on senior resident training and worthy of further application in other departments and hospitals.
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Supervised Teaching Clinic of the General Internal Medicine Department,Peking Union Medical College Hospital,is introduced from three respects including it's organization form,teaching contents,and feedback given by the supervisor.Through the actual cases in these clinics,it is illustrated how to implement the value of general practice during the interviews and how to deliver it to the residents in standardized training program.
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Objective To provide helpful continued medical education (CME) for physicians and improve gout treatment,we conducted a questionnaire survey to investigate physicians' knowledge in nine districts of Beijing.Methods A questionnaire survey including ten gout-related questions was conducted among 298 physicians in Beijing.Demographic data and previous gout CME experience were collected.Chi-square test or Student's t test,univariate analysis and logistic regression analysis were used to evaluate the relevant factors of physicians' knowledge level.Results A total of 250 valid copies were collected including 127 from community service centers (CSC),123 from tertiary hospitals.The correct answer rate of gout etiology,pathogenesis and attack symptoms were over 70％ in both groups.45.5％ (56/123) CSC doctors and 57.4％ (66/115) tertiary doctors answered right drugs to control acute gout attack (P=0.067).Only 42.3％ (52/123) in CSC and 53.4％ (63/118) in hospitals chose allopurinol as a urate-lowering drug (ULT),while 46.3％ (57/123) and 32.2％ (38/118) doctors considered colchicine as a ULT drug (P=0.084) respectively.Near half doctors considered that gout patients should take long-term ULT [40.5％ (51/126) vs.57.6％ (68/118)respectively,P=0.007].Univariate analysis showed that CME training could improve gout-related knowledge in CRC doctors.Conclusion Most CSC doctors generally understand basic knowledge of gout,while confusion of treatment is still significant.CME especially including standard gout treatment should be performed by doctors in tertiary hospitals.
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Three patients diagnosed as amyloidosis secondary to ankylosing spondylitis (AS) in Peking Union Medical College Hospital are reported.All 3 cases had renal abnormalities,2 cases were complicated with cardiac abnormalities,1 case was complicated with gastrointestinal abnormalities and 1 case was complicated with skin moss-like changes.Eleven cases of AS with amyloidosis were retrieved from Wanfang database and Pubmed database from 1997 to 2017.In total 14 cases,the male and female ratio was 5:2,the mean age of AS onset was (29.6± 10.5)years,and the mean age of amyloidosis diagnosed was(44.0± 10.5)years.Eight patients presented with edema and severe proteinuria,2 cases showed diarrhea,2 cases showed dyspnea,while 2 cases had no obvious symptoms.Thirteen cases had renal abnormalities and 1 case had only heart involvement.Of the 13 patients with renal involvement,2 cases were complicated with cardiac abnormalities,2 cases complicated with gastrointestinal abnormalities,2 cases complicated with skin abnormalities.The mean ESR was(83.7±22.6)mm/1 h,C reactive protein was(89±59)mg/L at onset.After the diagnosis of amyloidosis,9 patients were treated with TNF-α inhibitors,3 cases received symptomatic therapy,1 case underwent renal transplantation and 1 case were treated with peritoneal dialysis.In 9 patients treated with TNF-α inhibitors,8 cases were relieved and 1 case lost follow-up.Three patients who received symptomatic treatment all died,while patients receiving kidney transplantation and peritoneal dialysis were in stable condition.The study indicates that secondary amyloidosis often occurs in young male AS patients who have long course and poorly controlled disease,the kidney is the most common affected organ.TNF-α inhibitors may be effective for treatment of amyloidosis secondary to AS.
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Clinical data of a 33-year-old rheumatoid arthritis patient accompanied with pregnancy and lactation-associated osteoporosis(PLO) was retrospectively reviewed.The patient had two pregnancies within three years,and bone pain occurred during lactation of the second pregnancy after 2 months of delivery.Dual-energy X-ray (DEXA) showed decreased bone density,while thoracolumbar spine and pelvic X-ray film suggested osteoporosis.Her rheumatoid arthritis was stable and previous treatment did not include glucocorticoids.Other causes of metabolic bone diseases were excluded and the diagnosis of PLO was confirmed.The breastfeeding was stopped;calcium,active vitamin D,alendronate sodium were administrated,and the treatment was effective.Domestic and international literature from January 2000 to January 2019 was searched and no cases of PLO accompanied with rheumatoid arthritis were reported.There were only 100 cases of PLO retrieved in the literature,including 19 cases of PLO in China reported by four articles.It is suggested that PLO should be considered in RA patients presenting with arthragia during the lactation,in addition to relapse of disease.Awareness of PLO should be increased in physicians,especially rheumatologists,and anti-osteoporosis therapy is effective in patients with PLO.
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Objective To analyze the clinical features of secondary gout in glycogen storage disease type Ⅰ a (GSD Ⅰ a),so as to improve the awareness of this disease.Methods The clinical features,laboratory findings,treatments and prognosis of 5 GSD Ⅰ a patients with secondary gout who had been admitted to the Peking Union Medical College Hospital during 2006 to 2016 were collected and analyzed.GSD Ⅰ a was confirmed by liver biopsy and genotyping.Results Among the 5 patients (median age:27 years),3 were males and 2 were females.The mean age of gout onset was 17 ranging from 10 to 22 years old.The common manifestations of GSD included hepatomegaly since childhood,hypoglycemia,growth retardation,anemia,hyperlactacidemia and hyperlipidemia.All the 5 patients were complicated with gouty tophi and kidney stone.Gouty tophi and kidney stone were identified 3.8 years and 10.2 years after the first occurrence of articular symptoms,respectively.Renal damage occurred in 3 cases.All the patients underwent several therapeutic modalities including lifestyle intervention,allopurinol,and raw corn starch treatment.Conclusions Determination of the presence of primary disease should be performed actively for young-onset gout with early occurrence of gouty tophi.GSD should be suspected if there exist clinical manifestations like hepatomegaly,recurrent hypoglycemia,growth retardation.Early management of hyperuricemia and gout in GSD patients is important to prevent complications and improve prognosis.
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Objective To assess the value of internal medicine residency training program at Peking Union Medical College Hospital (PUMCH),and the feasibility of applying revised Milestones evaluation system.Methods Postgraduate-year-one to four (PGY-1 to PGY-4) residents in PUMCH finished the revised Milestones evaluation scales in September 2017.Residents' self-evaluation and faculty-evaluation scores were calculated.Statistical analysis was conducted on the data.Results A total of 207 residents were enrolled in this cross-sectional study.Both self and faculty scores showed an increasing trend in senior residents.PGY-1 residents were assessed during their first month of residency with scores of 4 points or higher,suggesting that residents have a high starting level.More strikingly,the mean score in PGY-4 was 7 points or higher,proving the career development of residency training program.There was no statistically significant difference between total self-and faculty-evaluation scores.Evaluation scores of learning ability and communication ability were lower in faculty group (t=-2.627,-4.279,all P＜0.05).The scores in graduate students were lower than those in standardized training residents.Conclusions The goal of national standardized residency training is to improve the quality of healthcare and residents' career development.The evaluation results would guide curriculum design and emphasize the importance and necessity of multi-level teaching.Self-evaluation contributes to the understanding of training objectives and personal cognition.