ObjectiveTo analyze the long-term trends of the disease burden of diabetes attributed to metabolic factors in China from 1990 to 2019, and provide scientific recommendations for diabetes prevention and control in China. MethodsDescriptive analysis was conducted on the disease burden data of diabetes attributed to metabolic factors in China from 1990 to 2019, obtained from GBD 2019, encompassing death form diabetes, disability-adjusted life years (DALY), years of life lost (YLL), and years lived with disability (YLD). Joinpoint regression models were employed to analyze the long-term trends in mortality and DALY rates. Furthermore, the study examined the impact of two metabolic risk factors, high fasting plasma glucose (FPG) levels and high body mass index (BMI) levels, on the disease burden of diabetes. ResultsFrom 1990 to 2019, the overall standardized mortality and DALY rates attributed to metabolic factors for diabetes in the general population in China showed an upward trend, with both average annual percent changes (AAPCs) of 0.1% in the total population. The trend was upward in males with AAPCs of 0.9% and 0.6%, while it was downward in females with AAPCs of -0.4% and -0.3%. As age increased, the disease burden of diabetes attributed to metabolic factors showed an upward trend, with high FPG and high BMI ranking as the top two attributing risk factors. The disease burden of diabetes attributed to metabolic factors was higher in Chinese males than females. ConclusionThe disease burden of diabetes attributed to metabolic factors is increasing among the overall population and particularly among males, while the burden for female is declining. There is a need to increase intervention efforts for males aged 65 and above, provide scientific guidance on residents’ diet and lifestyle habits, and control blood glucose and body weight.

Tuberous sclerosis complex(TSC)is a rare genetic disease that can lead to benign dysplasia in multiple organs such as the skin, brain, eyes, oral cavity, heart, lungs, kidneys, liver, and bones. Its main symptoms include epilepsy, intellectual disabilities, skin depigmentation, and facial angiofibromas, whilst incidence is approximately 1 in 10 000 to 1 in 6000 newborns. This case presents a middle-aged woman who initially manifested with epilepsy and nodular depigmentation. Later, she developed a lower abdominal mass, elevated creatinine, and severe anemia. Based on clinical features and whole exome sequencing, the primary diagnosis was confirmed as TSC. Laboratory and imaging examinations revealed that the lower abdominal mass originated from the uterus. CT-guided biopsy pathology and surgical pathology suggested a combination of leiomyoma and abscess. With the involvement of multiple organs and various complications beyond the main diagnosis, the diagnostic and therapeutic process for this patient highlights the importance of rigorous clinical thinking and multidisciplinary collaboration in the diagnosis and treatment of rare and challenging diseases.

Schimke immuno-osseous dysplasia (SIOD)caused by SMARCAL1 gene mutations is a rare genetic disorder characterized by multi-system involvement, including T-cell dysfunction, skeletal dysplasia, disproportionate short stature, nephrotic syndrome, and kidney failure. This multidisciplinary consultation involved a 9-year-old boy with intrauterine growth retardation, presenting with short stature, T-cell lymphopenia, proteinuria, and degenerative bone and joint disease. Treatment primarily focused on symptomatic and supportive care. Through the multidisciplinary rare disease consultation, holistic support was provided to the patient, offering comprehensive care from various specialtiesx.We also aim to use this case report to enhance clinicians′ under-standing of SIOD and improve the management and treatment of rare diseases.

Objective To investigate the characteristics and clinicopathology of v-raf murine sarcoma viral oncogene homolog Bl(BRAF)V600E mutations in papillary thyroid carcinoma(PTC)in Air Force flight personnel.Methods Data of cases and test results of BRAF V600E mutation were collected from Air Force aviators pathologically diagnosed with PTC.A univariate analysis of the relationship between BRAF V600E mutations and clinicopathologic features was performed.Results The overall rate of BRAF V600E mutations among 55 PTC flight crew members was 70.91％.The univariate analysis showed that the number of lymph node metastases in the BRAF V600E mutated group was larger than in the BRAF V600E unmutated group,and the proportion of BRAF V600E mutations in flight crews at intermediate risk of recurrence was higher than that in those at low risk of recurrence(P＜0.05).The presence or absence of BRAF V600E mutations did not affect the results of medical evaluation of PTC in flight personnel.Conclusion The rate of PTC BRAF V600E mutations in Air Force flight crews is similar to that of the general Chinese population.BRAF V600E mutations are associated with an increased number of lymph node metastases and risk of recurrence,and follow-up is recommended for flight personnel with PTC,especially those with BRAF V600E mutations.

Objective:To summarize the key prenatal ultrasound diagnosis features of Apert syndrome, analyze the causes of missed diagnosis and misdiagnosis, and propose corresponding preventive strategies.Methods:A retrospective analysis was made on the medical records and prenatal ultrasound images of 15 fetuses (including 14 cases referred from other hospitals) who underwent prenatal ultrasound examination in Guangdong Women and Children Hospital from August 2014 to May 2022 and were eventually clinically confirmed as Apert syndrome by induction or after birth. By conducting a comparative analysis, particularly focusing on the initial and final diagnoses of referral cases, the key ultrasound diagnostic points of Apert syndrome and the causes for missed and misdiagnosis were summarized.Results:①Diagnostic accuracy: Among the 15 fetuses, 11 cases (73.3%) were correctly diagnosed by prenatal ultrasound and 4 cases (26.7%) were missed diagnosis and misdiagnosis. For the 14 referral cases, only 2 cases (14.3%) were correctly identified in the initial diagnosis at the referring hospital (14.3%), and 12 cases (85.7%) were missed missed diagnosis and misdiagnosis. ②Detection rate of ultrasound signs: In the 15 fetuses with Apert syndrome, the detection rate of " cloverleaf" skull was 13.3% (2/15), premature coronal suture was 66.7% (10/15), the " brain shadowing sign" and flat occiput were both 93.3% (14/15), prominent forehead, hypertelorism and bilateral syndactyly of hands were all 100% (15/15), and bilateral syndactyly of feet was 73.3% (11/15). ③Analysis of missed diagnosis and misdiagnosis: Among the 4 cases of missed diagnosis and misdiagnosis in our hospital, premature closure of coronal suture, " brain shadowing sign", flat occiput and hypertelorism were all not recognized. Among these, 3 cases also missed the prominent forehead, bilateral syndactyly of hands and feet. Additionally, 1 case of bilateral syndactyly of hands was misdiagnosed as partial absence of metacarpals and phalangess.Conclusions:In the prenatal ultrasound diagnosis of fetal Apert syndrome, the symmetric syndactyly of both hands serves as an extremely important diagnostic clue. The " cloverleaf" skull is not common. The premature closure of coronal suture as a direct diagnostic sign with a high detection rate, highlighting its significance in the diagnostic of Apert syndrome. Furthermore, the high detection rates of characteristic ultrasound features such as prominent forehead, flat occiput, " brain shadowing sign" and hypertelorism could help to improve the accuracy of prenatal ultrasound diagnosis for Apert syndrome and effectively reduce missed and misdiagnosis.

Objective:To explore influencing factors of the self-reported brief life quality satisfaction score(Brief-QoL) in patients with acromegaly and understand the persistent low Brief-QoL scores in cases achieving biochemical remission.Methods:This study included 836 acromegaly patients who were hospitalized at Peking Union Medical College Hospital between January 2012 and December 2020. We retrospectively examined how clinical characteristics, biochemical parameters, comorbidities, and symptoms influenced Brief-QoL. Among patients who achieved biochemical remission, differences in clinical symptoms and comorbidities were analyzed between the high and low quality of life groups.Results:Patients with well-controlled biochemical indicators at the last follow-up had generally high Brief-QoL. However, patients with symptoms such as headaches (47.8% in the low-score group vs 14.9% in the high-score group, P<0.001) and joint pain (69.6% in the low-score group vs 19.0% in the high-score group, P<0.001) had low Brief-QoL despite biochemical remission. Receiving combined treatment(52.4% in the low-score group vs 27.5% in the high-score group, P=0.030) and having comorbid diabetes or hyperlipidemia were significant factors leading to decreased quality of life. Conclusion:Brief-QoL is suitable for follow-up of outpatient patients. Early identification of factors affecting quality of life and timely intervention can facilitate the realization of standardized management.

Objective:To evaluate the effects of pulmonary embolism response team (PERT) on the quality of care and clinical outcomes in patients with acute pulmonary embolism.Methods:This was a single-center retrospective cohort study. Patients with acute pulmonary embolism treated in Beijing Anzhen Hospital Affiliated to Capital Medical University from July 5, 2016 to July 4, 2018 were enrolled. Patients with acute pulmonary embolism who had traditional care from July 5, 2016 to July 4, 2017 (before the implementation of PERT) were classified as PERT pre-intervention group. Patients with acute pulmonary embolism who started PERT care from July 5, 2017 to July 4, 2018 were divided into the PERT intervention group. The diagnosis and treatment information of patients was collected through the electronic medical record system, and the quality of care (time from visit to hospitalization, time from hospitalization to anticoagulation initiation, time from visit to definitive diagnosis, total hospital stay, time in intensive care unit (ICU), hospitalization cost) and clinical outcomes (in-hospital mortality and incidence of bleeding) were compared between the two groups.Results:A total of 210 patients with acute pulmonary embolism, aged (63.3±13.7) years old, with 102 (48.6%) female patients were included. There were 108 cases in PERT pre-intervention group and 102 cases in PERT intervention group. (1) Quality of diagnosis and treatment: there was a statistical significance between the two groups in the distribution of time from diagnosis to definitive diagnosis ( P=0.002). Among them, the rate of completion of diagnosis within 24 hours after PERT intervention was higher than that before PERT intervention (80.4% (45/56) vs. 50.0% (34/68), P<0.001). The time from treatment to hospitalization was shorter than that before PERT intervention (180.0 (60.0, 645.0) min vs. 900.0 (298.0, 1 806.5) min, P<0.001). The total length of hospital stay was less than that before PERT intervention (12 (10, 14) d vs. 14 (11, 16) d, P=0.001). There was no statistical significance in the time from hospitalization to anticoagulant therapy, the length of ICU stay and hospitalization cost between the two groups (all P>0.05). (2) Clinical outcomes during hospitalization: There was no statistical significance in the incidence of hemorrhage and mortality between the two groups during hospitalization (both P>0.05). Conclusion:PERT has improved the efficiency of diagnosis and treatment of patients with acute pulmonary embolism and significantly shortened the total hospital stay, but its impact on clinical outcomes still needs further study.

【Objective】 To systematically evaluate the effect of applied muscle tension (AMT) exercises on reducing vasovagal reactions(VVRs) among blood donors by meta-analysis. 【Methods】 Nine related databases including MEDLINE, Web of Science and CINAHL were searched using "applied muscle tension" and "vasovagal reactions" as keywords to collect clinical studies on the effects of AMT exercise on VVRs during blood donation. Two researchers independently screened, evaluated the quality and extracted data from the retrieved literature according to the inclusion and exclusion criteria. RevMan 5.4 was used to conduct meta-analysis on the extracted data. 【Results】 A total of 7 articles were finally included, 5 in English and 2 in Chinese, covering 6 808 blood donors. The experimental group performed AMT during blood donation, while the control group did not. Compared with the control group, the difference in reducing the incidence of VVRs [ RR = 0.60, 95%CI (0.42, 0.87), P<0.01] was statistically significant in the AMT group. 【Conclusion】 AMT can effectively reduce the incidence of VVRs during blood donation. However, due to the limitation in the included studies, high-quality studies with perspectiveness, multicenter, large-sample size are further needed for validation in the future.

Blinatumomab, as a novel bispecific antibody targeting CD19 and CD3, can induce T lymphocytes to precisely target CD19 positive B lymphocytes to apoptosis. At present, it is the only bispecific antibody approved for the treatment of hematological malignancies in China. Blinatumomab is effective in the treatment of newly diagnosed, relapsed/refractory, minimal residual disease positive patients with B-cell acute lymphoblastic leukemia (B-ALL) . It can improve the survival of the patients and is well tolerated. The further study of blinatumomab can provide theoretical basis and new ideas for induction therapy, salvage therapy and subsequent hematopoietic stem cell transplantation in patients with B-ALL.

Autoimmune hypophysitis is a rare disorder characterized by autoimmune-mediated inflammation of the pituitary, among which lymphocytic hypophysitis is the most common type that occurs mainly in young women of reproductive ages. Its common clinical manifestation includes headache, visual dysfunction, hypopituitarism and etc. Typical magnetic resonance imaging shows diffuse homogenous enlargement of the pituitary gland with gadolinium enhancement and stalk thickening. Pituitary biopsy with histopathological examination is the gold standard for the diagnosis of autoimmune hypophysitis, but it should be performed with extra care in that transsphenoidal surgery is invasive and may cause pituitary insufficiency. Closely relating to clinical manifestation of the patients and the radiological features is advised for diagnosis. Good response to glucocorticoid therapy also help confirm the diagnosis. Full course of pharmacological glucocorticoid treatment can effectively control the clinical symptoms, reduce the mass effects, and promote the resumption of pituitary functions. Surgery is usually necessary for xanthomatous and granulomatous hypophysitis. Pathophysiological mechanism, diagnostic biomarkers, and need studying further.