Gorham-Stout disease(GSD) is a rare osteolytic disorder characterized by spontaneous and progressive osteolysis, along with abnormal angiogenesis and lymphangiogenesis, with no new bone formation. We present a case of a 15-year-old female admitted due to " recurrent right leg pain for 5 years, 11 months after undergoing right femoral fracture surgery". Through comprehensive integration of the patient's clinical phenotype, laboratory tests, imaging findings, pathological examinations, and molecular biological test results, GSD was considered highly likely. A multidisciplinary treatment approach was conducted, including a combination of zoledronic acid and sirolimus to inhibit osteolysis, along with rehabilitation training and orthopedic intervention, providing a personalized and comprehensive treatment strategy.

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 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.

Inflammatory bowel disease (IBD) is a kind of chronic inflammatory immune disease of the intestine. In recent years, biologics and small molecule agents with different targets have been used for the treatment of IBD. However, it also brings concerns about opportunistic infections, among which the reactivation of latent tuberculosis infection is more harmful. China is still one of the epidemic areas of tuberculosis, and clinicians attach great importance to the reactivation of latent tuberculosis infection induced by biologics and small molecule agents. This paper reviews the risk of latent tuberculosis infection reactivation associated with biologics and small molecule agents and the recommendation of the guideline. It is expected to provide a reference for the application of these medications in patients with inflammatory bowel disease complicated by latent tuberculosis infection.

Inflammatory bowel disease (IBD) is a kind of chronic inflammatory immune disease of the intestine. In recent years, biologics and small molecule agents with different targets have been used for the treatment of IBD. However, it also brings concerns about opportunistic infections, among which the reactivation of latent tuberculosis infection is more harmful. China is still one of the epidemic areas of tuberculosis, and clinicians attach great importance to the reactivation of latent tuberculosis infection induced by biologics and small molecule agents. This paper reviews the risk of latent tuberculosis infection reactivation associated with biologics and small molecule agents and the recommendation of the guideline. It is expected to provide a reference for the application of these medications in patients with inflammatory bowel disease complicated by latent tuberculosis infection.

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.

Objective:To study the clinical characteristics and endoscopic manifestations of patients with systemic amyloidosis involved in digestive tract.Methods:Clinical and endoscopic features, biopsy locations and positive rate of patients with systemic amyloidosis involved in digestive tract at Peking Union Medical College Hospital from December, 1991 to December, 2004 (1991 to 2004 diagnosed group, 18 cases) and from March 17th, 2009 to November 4th, 2020 (2009 to 2020 diagnosed group, 47 cases) were retrospectively analyzed and compared. Independent sample t test, Mann-Whitney U test and chi-square test were used for statistical analysis. Results:Among 47 patients in 2009 to 2020 diagnosed group, 41 were primary amyloid light chain (AL) amyloidosis, and the age of onset was older than that of 1991 to 2004 diagnosed group ((57.15±9.10) years old vs. (50.75±10.90) years old), and the time from disease onset to diagnosis was shorter than that of 1991 to 2004 diagnosed group ((13.48±11.72) months vs. (26.38±23.02) months), and the differences were statistically significant ( t=2.08 and -2.13, P=0.048 and 0.047). There was no significant difference in time from disease onset to diagnosis between patients with gastrointestinal manifestations at disease onset and patients without gastrointestinal manifestations at disease onset (10.5 months (6.0 months, 17.3 months) vs.14.0 months (5.8 months, 25.0 months), P>0.05). Among primary AL amyloidosis patients in 2009 to 2020 diagnosed group, weight loss was the most common clinical symptom, the proportion of patients was 87.8%(36/41); secondary was gastrointestinal bleeding, among which 18 patients (43.9%) were stool occult blood test positive and 4 patients (9.8%) were with melena or bloody stool. The endoscopic features of patients with biopsy-confirmed digestive tract involvemen vary, including mucosa hemorrhage and oozing of blood in 4 cases, fragile mucosa and easy to bleed in 3 cases, and 4 cases with bulged mucosa and all the 4 cases of biopsy at bulged mucosa was positive. Gingiva and tongue were the most common biopsy locations and the positive rate of biopsy was ≥60.0%. Rectal mucosa biopsy was performed in 15 patients and 6 were Congo red staining positive. Heart or kidney biopsy was performed in 3 and 6 patients, and the number of positive cases was 2 and 4, respectively. Conclusions:Weight loss and gastrointestinal bleeding are the common gastrointestinal symptoms of primary AL amyloidosis. The common endoscopic manifestations included mucosal bleeding, fragile and bulged mucosa. Biopsy at multiple locations according to experience may help earlier diagnosis and treatment.

Objective To evaluate the effect and mechanism of rivaroxaban, an inhibitor of coagulation factor Ⅹa (FⅩa), on endotoxin-induced injury to human umbilical vein endothelial cells (HUVEC). Methods When cultured HUVEC grow to 80% fusion, they were divided into four groups according to the random number method: blank control group (DMEM medium), lipopolysaccharide (LPS) group (cells were challenged by 100 μg/L LPS for 16 hours), FⅩa+LPS group (cells were challenged by LPS for 16 hours after they were cultured with 100 nmol/L FⅩa for 24 hours), and FⅩa+RIV+LPS group (cells were challenged by LPS for 16 hours after they were cultured with 100 nmol/L FXa and 1 μmol/L rivaroxaban for 24 hours). After each group of cells were challenged with LPS, the cell activity was detected by the cell proliferation and toxicity kit (CCK-8); the cell migration ability was detected by cell scratch experiments;the abilities of cells migration were measured by scratch-wound-healing assay; the apoptosis of cells were evaluated using flow cytometry; the endothelial barrier of cells was assessed by Transwell and Evans blue; the levels of tumor necrosis factor-α(TNF-α), interleukin (IL-1β, IL-6) were detected by the enzyme linked immunosorbent assay (ELISA); the expressions of nuclear factor-κB (NF-κB) and mitogen activated protein kinase (MAPK) signaling pathway were detected by Western Blot. Results Compared with blank control group, the cell viability in LPS group was significantly decreased, and the migration ability, number of apoptotic cells, and barrier permeability of endothelial cells was significantly increased, the levels of TNF-α, IL-1β and IL-6 were significantly increased, and the expressions of phosphorylation of c-Jun N-terminal kinase (p-JNK), phosphorylation of p38MAPK (p-p38MAPK), phosphorylation of transforming growth factor kinase 1 (p-TAK1) and phosphorylation of NF-κBp65 (p-NF-κBp65) were significantly increased. It indicated that LPS could stimulate the inflammatory response of vascular endothelial cells, and had a significant impact on cell activity, apoptosis and function. There was no significant difference in above indexes between FⅩa+LPS group and LPS group, except for the level of IL-6 being higher in FⅩa+LPS group. Compared with FⅩa+LPS group, in FⅩa+RIV+LPS group, the cell activity was significantly increased (A value: 0.42±0.02 vs. 0.33±0.02), and migration ability was significantly decreased (folds: 1.78±0.17 vs. 2.24±0.20), the number of apoptotic cells was significantly decreased [(11.30±0.70)% vs. (21.03±0.19)%], and permeability of monolayers endothelial cells was significantly decreased [(149±12)% vs. (253±15)%], the levels of inflammatory cytokines were significantly decreased [IL-1β(ng/L): 163.2±20.7 vs. 477.8±20.2, IL-6 (ng/L): 69.3±0.5 vs. 238.0±24.1, TNF-α(ng/L): 117.0±13.1 vs. 196.2±4.5], the expressions of p-TAK1 and p-NF-κBp65 were significantly decreased (p-TAK1/TAK1: 0.74±0.09 vs. 1.85±0.15, p-NF-κBp65/NF-κBp65: 1.15±0.17 vs. 2.36±0.20), with statistically significant differences (all P <0.05). There was no significant difference in the p-JNK, p-p38MAPK expressions between FⅩa+RIV+LPS group and FⅩa+LPS group (p-JNK/JNK: 1.64±0.12 vs. 1.65±0.15, p-p38MAPK/p38MAPK: 2.31±0.32 vs. 2.35±0.20, both P > 0.05). Conclusion Rivaroxaban can effectively relieve the inflammatory response of HUVEC stimulated by LPS, which may be related to the inhibition of NF-κB signaling pathway activation rather than MAPK signaling pathway.

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.

Objective To follow up the changes of postnatal cardiac sizes and function in infants of mothers with gestational diabetes mellitus (GDM). Methods Eighteen GDM mothers with euglycemia (GDM group) and 24 gestational age-matched normal pregnant women (control group),having prenatal examination and delivered in Women's Hospital of Fudan University from January to August in 2007, received fetal echocardiographic examination in late pregnancy. Infants of these GDM mothers and 24 age-matched healthy infants of normal pregnancy (control group) received sonographic follow up. Cardiac sizes and function were evaluated and compared. Results At birth, there were six (33.3%) infants of large for gestational age (LGA) and 12(66.7%) appropriate for gestational age(AGA) in GDM group, while in the control group, there were two LGA (8. 3%) and 22(91.7%)AGA infants (x2 =3. 840, P= 0. 05). Both the interventricular septum and left ventricular walls in GDM fetuses were thicker than in control fetuses (P ＜ 0.05). No increase in the thickness of ventricular walls was observed till infantile period. However, the end-systolic thickness of left ventricular walls in LGA infants was still larger than in control infants [(4.55 ± 0.37) mm vs (4. 13±0.39)mm, P＜0. 05], and end-diastolic left ventricular long-diameters were also larger [(37. 3±2.3) mm vs (34.6±2.6) mm] (P＜0. 05). In GDM fetuses, the peak velocities of aorta and pulmonary artery and left cardiac output were higher than in the controls (P＜ 0. 01 ), and right/left cardiac outputs ratios were lower (1.198±0.206 vs 1. 430±0. 321, t= -2.668,P=0. 011). Till infantile period, only right/left cardiac outputs ratios in AGA infants of GDM group were larger than in controls (P＜0. 05). GDM fetuses' left atrial shortening fraction and tricuspid E/A ratios were smaller (P＜0. 05). In infantile period, only left atrial shortening fraction in GDM infants was still smaller than in controls (0. 356 ± 0. 040 vs 0. 386 ± 0. 041, t = - 2. 332, P = 0. 025). Left and right ventricular Tei index in GDM fetuses were 0. 482±0. 129 and 0. 414±0. 094, both larger than those of control fetuses (0. 309 ± 0. 074 and 0. 283 ± 0. 072) (t = 5. 075 and 5. 129, P = 0. 000 ). Till infantile period they both became significantly lower and no differences were found among LGA, AGA and control infants. Conclusions The cardiac sizes and function at 2-3 months of age, in infants of GDM mothers with good glucose control, became better than that in uterus.