The latest epidemiological data suggests that the situation of adult diabetes in China is severe, and metabolic diseases have become significant chronic illnesses that have a serious impact on public health and social development. After more than six years of practice, the National Metabolic Management Center(MMC) has developed distinctive approaches to manage metabolic patients and has achieved a series of positive outcomes, continuously advancing the standardized diagnosis and treatment model. In order to further improve the efficiency, based on the first edition, the second edition guideline was composed by incorporating experience of the past six years in conjunction with the latest international and domestic guidelines.

OBJECTIVE: To explore the long-term efficacy of allogeneic hematopoietic stem cell transplantation (alloHSCT) in patients with Mucopolysaccharidosis (MPS), which has rarely been reported in China. METHODS: A 18-month-old boy and a 23-month-old girl undergoing alloHSCT for MPS VI and MPS IH Shanghai Children's Medical Center on March 30, 2006 and September 6, 2006 were selected as the study subjects. A busulfan-based myeloablative regimen was used as the conditioning regimen. Peripheral stem cells were respectively collected from a human leucocyte antigen (HLA) matched sibling carrier donor and a HLA 9/10 matched unrelated donor. Both patients were followed up for more than 15 years. The functions of internal organs before and after the transplantation were compared, and child 1 was also compared with his untreated brother and healthy brother. RESULTS: Both children have achieved full donor chimerism after the transplantation, and their enzymatic activities have remained stable. The enzymatic activity of the child 1 was slightly lower than normal but similar to that of his carrier donor, whilst that of the child 2 was normal. Both children have attended schools with good academic performance. Compared with his untreated brother, the respiratory function and hearing of child 1 have significantly improved. However, his orthopedic and cardiac disorders have still remained and required medical intervention. For child 2, her obstructive pulmonary disease was resolved and cognitive development was well preserved after the HSCT. Her heart disease has become stabilized and even improved with time, though her corneal clouding and skeletal malformation still required surgery. CONCLUSION MPS patients can sustain long-term and stable enzymatic activities after successful alloHSCT. Compared with untreated patients, their health can be significantly improved, along with considerably prolonged survival, though the long-term efficacy of HSCT for different organs may vary to a certain extent.
Humans ; Child ; Male ; Female ; Infant ; Child, Preschool ; Graft vs Host Disease/etiology* ; China ; Hematopoietic Stem Cell Transplantation/adverse effects* ; Mucopolysaccharidoses/etiology* ; Busulfan ; Treatment Outcome

Objective:To investigate the correlation of peripheral blood 25-hydroxyvitamin D3 [25 (OH) D3] level with T cell subsets in multiple myeloma (MM).Methods:The clinical data of 11 newly diagnosed MM patients hospitalized in Heze Municipal Hospital and the First People's Hospital of Jining from June 2019 to June 2021 were retrospectively analyzed, and 8 healthy people were selected as the healthy control group. The patients achieved disease remission after 4 courses of BD (bortezomib + dexamethasone) regimen. High performance liquid chromatography-tandem mass spectrometry (HPLC-MS/MS) was used to measure the peripheral blood 25-(OH) D3 level in MM patients at initial diagnosis and after 4 courses of treatment, as well as people in the healthy control group. The proportion of peripheral blood helper T cell (Th) 1, Th2, Th17, and regulatory T cells (Treg cells) in CD3 + CD8 + T cells was measured by using flow cytometry. IgA, IgG, IgM, lactic dehydrogenase (LDH), β 2-microglobulin (β 2-MG) levels were analyzed by using fully automatic biochemical analyser. Cytoanalyze was used to detect the hemoglobin level in the peripheral blood. The differences of all indicators in MM patients at initial diagnosis, remission after treatment and the healthy control group were compared. Pearson method was used to analyze the correlation of the peripheral blood 25-(OH) D3 level with T cell subsets and other biochemical indicators in MM patients at initial diagnosis and remission after treatment. Results:Compared with the healthy control group, the peripheral blood 25-(OH) D3 level, Th1-to-Th2 ratio (Th1/Th2), the proportion of Treg cells were all decreased (all P < 0.01), and Th17-to-Treg cells ratio (Th17/Treg) was increased ( P = 0.002). The proportion of Th17 and Th17/Treg in MM patients achieving remission after treatment was higher than that in the healthy control group (all P < 0.05); the proportion of Treg cells in MM patients achieving remission after treatment was lower than that in the healthy control group ( P = 0.010); 25-(OH) D3 level in MM patients achieving remission after treatment was lower than that in the healthy control group, while the difference was not statistically significant ( P = 0.060). The peripheral blood IgM in MM patients at initial diagnosis and those achieving remission after treatment was lower than that in the healthy control group (all P < 0.01); the levels of LDH and β 2-MG in MM patients at initial diagnosis and those achieving remission after treatment was higher than that in the healthy control group (all P < 0.05). The peripheral blood 25-(OH) D3 level in MM patients at initial diagnosis was positively correlated with the proportion of Th1, Th1/Th2 ( r values 0.89, 0.60, all P < 0.05), and negatively correlated with the proportion of Th17 and Th17/Treg ( r values -0.61, -0.75, all P < 0.05). After treatment, there was no correlation of the proportion of Th1, Th2, Th17, Treg, Th1/Th2, Th17/Treg with peripheral blood 25- (OH) D3 level for patients achieving remission ( r values were -0.36, -0.45, -0.10, 0.10, 0.19, 0.03, all P > 0.05). IgM, LDH, β 2-MG was negatively correlated with 25- (OH) D3 level in the peripheral blood of MM patients at initial diagnosis ( r values were -0.76, -0.71, -0.62, all P < 0.05); while there was no correlation of 25-(OH) D3 level with IgA, IgG, IgM, LDH, β 2-MG, hemoglobin for patients achieving remission after treatment ( r values were -0.36, 0.19, -0.09, 0.47, 0.47, -0.11, all P > 0.05). Conclusions:MM patients show the decreased peripheral blood 25-(OH) D3 level, the increased Th17 and the decreased Treg cells; 25-(OH) D3 level is related to the imbalance of Th1/Th2/Th17/Treg, which suggests that 25-(OH) D3 may be related to the development, progression, prognosis and abnormal immune responses in the body of MM.

Rare diseases have been a major challenge for clinical medicine and public health challenge in China. One of the effective measures is to conduct proactive research on rare diseases to deal with the disease burden of the diseases. However, low prevalence, disperse distribution of patients, lack of knowledge about the disease course, and phenotype heterogeneity hamper the development of research for rare diseases. Recently, it has been found that patients registry is effective in understanding the course of the disease and accu- mulating the cases and data of clinical research or clinical trial design. At present, most of developed countries or regions in the world have promoted clinical research and clinical trials of new medications on rare diseases by using the registration of rare disease. In 2016, Peking Union Medical College Hospital established China's first registry system at the national level-National Rare Disease Registry System of China(NRDRS). NRDRS has accumulated 68 137 cases data registered by the researchers from China's 101 collaborating hospitals in 29 provinces/municipalities/autonomous regions, covering 171 different, and forming 188 cohorts. To date, NRDRS complete the initial stage of resources buildup.Nex stage will be focused on clinical research and clinical trials related to rare diseases based on NRDRS. This article is on the process of building NRDRS, the potential support for conducting clinical research and clinical trials related to rare diseases, and the challenges will be faced.

Objective:To investigate the clinical efficacy and related adverse reactions of ixazomib-based chemotherapy regimens in the treatment of relapsed/refractory multiple myeloma (RRMM).Methods:Twenty-one patients with RRMM who received ≥2 courses of ixazomib-based chemotherapy regimens in Heze Municipal Hospital and Zoucheng People's Hospital of Shandong Province from October 2018 to February 2020 were collected. Among them, 15 patients had previously received the bortezomib-based regimens, 10 patients had received the lenalidomide-based regimens, and 6 patients had received the treatment regimens containing the above two drugs. The patients were treated by a two-drug or three-drug regimen: 4 mg ixazomib was taken orally on day 1, 8 and 15 in combination with other drugs (dexamethasone, cyclophosphamide or lenalidomide). The therapeutic efficacy and safety were evaluated after the 2nd and the 4th treatment cycles.Results:The overall response rate (ORR) of 21 patients with RRMM after 2 treatment cycles was 38.09% (8/21), including 6 cases of partial remission (PR) and 2 cases of very good partial remission (VGPR). After 4 cycles, ORR was 57.14% (12/21), including 7 cases of PR, 4 cases of VGPR, and 1 case of complete remission (CR). The incidence of grade 3-4 adverse reactions of the ixazomib-based chemotherapy regimens was 23.81% (5/21). Hematological adverse reactions included neutropenia, thrombocytopenia and anemia, and other common adverse reactions included the digestive tract reactions, fatigue, hypokalemia, etc., and the peripheral nerve adverse reactions were all grade 2 or below grade 2.Conclusion:The ixazomib-based chemotherapy regimens are effective and safe in treating RRMM.

Objective:To explore the distribution characteristics of pathogens in adult patients with community-acquired pneumonia (CAP) and to provide basis for the diagnosis, treatment, prevention of CAP.Methods:1 446 inpatients with CAP were prospectively enrolled in a third-class hospital in Beijing in recent 5 years (from January 2015 to December 2019). Respiratory tract samples were collected for smear, culture, nucleic acid, antigen and antibody detection to identify the pathogen of CAP. Mann-Whitney U test was used for continuous variables and χ 2 test or Fisher′s exact test was used for categorical data for statistical analysis. Results:Among the 1 446 patients, 822 (56.85%) patients were infected with a single pathogen, 231 (15.98%) patients were infected with multiple pathogens, and 393 (27.18%) patients were not clear about the pathogen. Influenza virus is the first pathogen of CAP (20.95%, 303/1 446), mainly H1N1 (8.51%, 123/1 446), followed by mycoplasma pneumoniae (7.19%, 104/1 446), Mycobacterium tuberculosis (5.33%, 77/1 446) and Streptococcus pneumoniae (5.05%, 73/1 446). The outbreak of H1N1 occurred from December 2018 to February 2019, and the epidemic of mycoplasma pneumoniae pneumonia was monitored from August to November 2019. Patients under 65 years old had high detection rates of Mycoplasma pneumoniae (14.41% vs. 2.41%, χ2=74.712, P<0.001), Streptococcus pneumoniae (8.16% vs. 2.99%, χ2=18.156, P<0.001), rhinovirus (6.08% vs. 3.56%, χ2=5.025, P<0.025), Chlamydia pneumoniae (5.90% vs. 1.15%, χ2=26.542, P<0.001) and adenovirus (3.13% vs. 0.92%, χ2=9.547, P=0.002). The severe disease rate of CAP was 14.66% (212/1 446), and the average mortality rate was 3.66% (53/1 446). The severe illness rate and mortality rate of bacterial-viral co-infection were 28.97% (31/107) and 19.63% (21/107), respectively. Conclusions:Influenza virus is the primary pathogen of adult CAP. Outbreaks of Mycoplasma pneumoniae and H1N1 were detected in 2018 and 2019, respectively. The remission rate and mortality rate of virus-bacteria co-infection were significantly higher than those of single pathogen infection. Accurate etiological basis not only plays a role in clinical diagnosis and treatment, but also provides important data support for prevention and early warning.

Objective:To explore the distribution characteristics of pathogens in adult patients with community-acquired pneumonia (CAP) and to provide basis for the diagnosis, treatment, prevention of CAP.Methods:1 446 inpatients with CAP were prospectively enrolled in a third-class hospital in Beijing in recent 5 years (from January 2015 to December 2019). Respiratory tract samples were collected for smear, culture, nucleic acid, antigen and antibody detection to identify the pathogen of CAP. Mann-Whitney U test was used for continuous variables and χ 2 test or Fisher′s exact test was used for categorical data for statistical analysis. Results:Among the 1 446 patients, 822 (56.85%) patients were infected with a single pathogen, 231 (15.98%) patients were infected with multiple pathogens, and 393 (27.18%) patients were not clear about the pathogen. Influenza virus is the first pathogen of CAP (20.95%, 303/1 446), mainly H1N1 (8.51%, 123/1 446), followed by mycoplasma pneumoniae (7.19%, 104/1 446), Mycobacterium tuberculosis (5.33%, 77/1 446) and Streptococcus pneumoniae (5.05%, 73/1 446). The outbreak of H1N1 occurred from December 2018 to February 2019, and the epidemic of mycoplasma pneumoniae pneumonia was monitored from August to November 2019. Patients under 65 years old had high detection rates of Mycoplasma pneumoniae (14.41% vs. 2.41%, χ2=74.712, P<0.001), Streptococcus pneumoniae (8.16% vs. 2.99%, χ2=18.156, P<0.001), rhinovirus (6.08% vs. 3.56%, χ2=5.025, P<0.025), Chlamydia pneumoniae (5.90% vs. 1.15%, χ2=26.542, P<0.001) and adenovirus (3.13% vs. 0.92%, χ2=9.547, P=0.002). The severe disease rate of CAP was 14.66% (212/1 446), and the average mortality rate was 3.66% (53/1 446). The severe illness rate and mortality rate of bacterial-viral co-infection were 28.97% (31/107) and 19.63% (21/107), respectively. Conclusions:Influenza virus is the primary pathogen of adult CAP. Outbreaks of Mycoplasma pneumoniae and H1N1 were detected in 2018 and 2019, respectively. The remission rate and mortality rate of virus-bacteria co-infection were significantly higher than those of single pathogen infection. Accurate etiological basis not only plays a role in clinical diagnosis and treatment, but also provides important data support for prevention and early warning.

Objective    To report a simple and safe method for in situ fenestration of left subclavian artery in thoracic endovascular aortic repair (TEVAR). Methods    Twenty-eight patients received in situ fenestration of left subclavian artery in TEVAR from June 2018 to May 2019 in our center, including 23 males and 5 females at an average age of 57.7±9.6 years. Among them, 12 patients used adjustable sheath or guiding catheter (a group A) and 16 patients used "J. D" technique (a group B). The clinical efficacy of the two groups was compared. Results    In the group A, 1 patient failed to receive fenestration and was transferred to the chimney technique. In the group B, 1 patient due to the traction system shift during operation, was completed by traditional adjustable sheath puncture. The group B had shorter alignment-perforation time and trigger time and less complications. There was no significant difference in endoleak during short-term follow-up between the two groups. Conclusion    The "J. D" technique is simple, safe and easy to obtain materials. It effectively reduces the risk caused by difficult sheath alignment during the in situ fenestration of the left subclavian artery. Although the results of recent follow-up are not significantly different from traditional methods, it still needs to accumulate the cases to observe the possible risks and difficulties.

PURPOSE: Details of patients hospitalized for asthma exacerbation in mainland China are lacking. To improve disease control and reduce economic burden, a large sample survey among this patient population is indispensable. This study aimed to investigate the clinical characteristics and outcomes of such patients.METHODS: A retrospective study was conducted on patients hospitalized for asthma exacerbation in 29 hospitals of 29 regions in mainland China during the period 2013 to 2014. Demographic features, pre-admission conditions, exacerbation details, and outcomes were summarized. Risk factors for exacerbation severity were analyzed.RESULTS: There were 3,240 asthmatic patients included in this study (57.7% females, 42.3% males). Only 28.0% used daily controller medications; 1,287 (39.7%) patients were not currently on inhaled corticosteroids. Acute upper airway infection was the most common trigger of exacerbation (42.3%). Patients with severe to life-threatening exacerbation tended to have a longer disease course, a smoking history, and had comorbidities such as hypertension, chronic obstructive pulmonary disease (COPD), and food allergy. The multivariate analysis showed that smoking history, comorbidities of hypertension, COPD, and food allergy were independent risk factors for more severe exacerbation. The number of patients hospitalized for asthma exacerbation varied with seasons, peaking in March and September. Eight patients died during the study period (mortality 0.25%).CONCLUSIONS: Despite enhanced education on asthma self-management in China during recent years, few patients were using daily controller medications before the onset of their exacerbation, indicating that more educational efforts and considerations are needed. The findings of this study may improve our understanding of hospital admission for asthma exacerbation in mainland China and provide evidence for decision-making.
Adrenal Cortex Hormones ; Asthma ; China ; Comorbidity ; Disease Progression ; Education ; Female ; Food Hypersensitivity ; Hospitalization ; Humans ; Hypertension ; Inpatients ; Medication Adherence ; Mortality ; Multivariate Analysis ; Pulmonary Disease, Chronic Obstructive ; Retrospective Studies ; Risk Factors ; Seasons ; Self Care ; Smoke ; Smoking

Objective:To understand and analyze the research status of respite care at home for elderly patients with dementia at home and abroad, and provide reference for related research and practice.Methods:The Chinese and English databases were searched to conduct a quantitative analysis of the literatures related to respite care at home for elderly patients with dementia from the publication year, the distribution area of literature , research type and research content. The retrieval time of Chinese and English databases was from the establishment of the databases to December 2018.Results:A total of 259 literatures were included in the analysis, including 14 Chinese literatures and 245 English literatures. Since 1989, the number of literature publications showed an upward trend. The top three countries with the highest volume of published literatures are 89 literatures in the United States (34.4%, 89/259) , 32 literatures in Australia (12.4%, 32/259) and 28 literatures in the United Kingdom (10.8%, 28/259) . A total of 259 literatures were included in 158 journals and magazines, mainly in geriatric journals (22.2%, 35/158) . The total number of literatures published by the top five journals was 46, and 46 literatures were cited for 6036 times. A total of 196 literatures were cited. The research contents included 100 literatures (38.6%, 100/259) on the current development status of respite care at home in elderly patients with dementia, 121 literatures (46.7%, 121/259) on effect evaluation of elderly patients with dementia and family caregivers and 38 literatures (14.7%, 38/259) on process formulation and standardized management of respite care at home.Conclusions:Respite care at homehas been carried out abroad for many years. Scholars in China should refer to the plan for respite care at home in foreign countries and explore suitable respite care models combined with national conditions and regional differences of China so as to provide new ideas for solving the problem of the aged care.