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@#Rare diseases, also known as "orphan diseases", refer to diseases with very low incidence. Countries and regions define rare diseases according to epidemiological standards, economic standards of rare drugs and disease severity. The World Health Organization (WHO) has suggested the prevalence rate of less than 6.5 to 10 per 10 000 people to define rare diseases. In May 2018, "China's First List of Rare Diseases" was released, including 121 rare diseases. Most rare diseases are hereditary diseases with early onset, severe disease, and poor prognosis. About 75% of rare genetic diseases occur in the neonatal period or childhood, which are important part of human birth defects and brings a huge burden to society and families. The effective prevention and treatment of rare diseases is one of the important goals of building a "Healthy China". With the development of molecular biology technology and the continuous research and development of advanced medical products in the field of gene therapy, the level of clinical diagnosis and treatment of rare diseases has risen to a new level, which provides a possibility for the cure of some rare diseases. In China, most rare diseases rely on imported drugs, which cost a lot and bring heavy economic burden to patients. Improving the medical insurance system for rare diseases has become a difficult point in the current medical reform. This paper mainly discusses the definition of rare diseases, the research status, efforts and future development direction of rare diseases in China, in order to deepen the understanding and response of medical workers and the whole society to rare diseases.
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Objective:To analyze the epidemiological and clinical characteristics of patients with imported corona virus disease 2019 (COVID-19) in Beijing City.Methods:A case-control study was performed to retrospectively analyze 69 cases of imported COVID-19 from abroad and 147 cases of domestic confirmed COVID-19 from China as a control group from January 20 to March 20, 2020 admitted to Beijing Ditan Hospital, Capital Medical University.The epidemiological and clinical characteristics were compared.Statistical analysis were performed by t test, Mann-Whitney U test, chi-square test and Fisher exact test. Results:The main sources of the cases in the import group were from the United Kingdom, Italy, Spain and other European countries, with 44.9%(31/69) of the overseas students entering the country by air. The age of the imported group (27(21, 40) years) was lower than the domestic group (43 (32, 59)years), the difference between the two groups was statistically significant ( U=2 828.500, P<0.01). Compared with the domestic group, the proportion of cases with contact history of confirmed cases in the imported group was lower (30.4%(21/69) vs 68.0%(100/147)), the interval between onset and admission ≤seven days was higher (81.2%(56/69) vs 66.0%(97/147)), the proportion of cases with underlying diseases was lower (21.7%(15/69) vs 44.2%(65/147)). The differences between the two groups were all statistically significant ( χ2=26.935, 5.233 and 10.175, respectively, all P<0.05). The proportion of mild cases in the imported group was higher than that in the domestic group (42.0%(29/69) vs 10.9%(16/147)). Seventeen cases with olfactory abnormality and 12 cases with taste abnormality were found in the imported group, while no olfactory and taste abnormality was found in the domestic group. The proportions of fever, weakness, muscle soreness and dyspnea were all lower than those of the domestic group, the differences between the two groups were all statistically significant ( χ2=13.851, 8.118, 9.730 and 16.255, respectively, all P<0.01). The proportions of cases with decreased lymphocyte absolute numbers (37.7%(26/69) vs 67.3%(99/147)) and increased C reactive protein level (15.9%(11/69) vs 51.8%(72/139)) were both lower than the domestic group, and the differences between the two groups were both statistically significant ( χ2=18.015 and 24.722, respectively, both P<0.01). The proportions of cases with ground glass shadow and consolidation of chest computed tomography were lower than those of the domestic group and the differences between the two groups were all statistically significant ( χ2=11.961 and 5.099, respectively, all P<0.05). In terms of complications, the proportions of cases with acute respiratory distress syndrome and acute myocardial injury were lower (2.9%(2/69) vs 10.9%(16/147) and 4.3%(3/69) vs 14.0%(16/114), respectively), and there were statistically significant differences between the two groups ( χ2=4.017 and 4.335, respectively, both P<0.05). There were no cases received mechanical ventilation and extracorporeal membrane oxygenation in the imported group, and the proportions of patients received oxygen therapy and antibiotic treatment were significantly lower than those in the domestic group (13.0%(9/69) vs 26.5%(39/147) and 13.0%(9/69) vs 39.5%(58/147), respectively) and the differences between the two groups were statistically significant ( χ2=4.942 and 15.797, respectively, both P<0.05). Conclusions:The majority of imported COVID-19 cases are mainly from European countries, mostly young and middle-aged, and mostly mild and ordinary types.The symptoms of olfactory and taste abnormality are found for the first time.
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A total of 3 177 HIV/AIDS patients were admitted in Beijing Ditan Hospital,Capital Medical University from January 2009 to December 2015,among whom pneumothorax developed in 50 cases with a morbidity rate of 1.6％.Twenty six HIV/AIDS patients with pneumothorax died with a case fatality rate of 52.0％ (26/50).Pneunocystis jirovecii pneumonia (PCP) was the dominant lung disease related to pneumothorax (37/50).Risk factors of pneumothorax were assessed among 40 HIV/AIDS patients with PCP undergoing mechanical ventilation in ICU,including 20 cases with pneumothorax and 20 cases without pneumothorac.Multivariate logistic regression analysis revealed that positive end-expiratory pressure (PEEP) was independent risk factor of pneumothorax in HIV/AIDS patients with PCP under mechanical ventilation (OR =2.490,95 ％ CI:1.302-4.763,P =0.01).
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Objective To explore the influence of Helicobacter pylori (Hp) infection in serum lipoprotein associated phospholipase A2 (Lp-PLA2), carotid intima-media thickness and stability of atherosclerotic plaques in atherosclerosis patients.Methods A total of 393 cases of patients with carotid artery arteriosclerosis confirmed by carotid color uhrasonography, who are informed consent, was selected as objects.The14C urea breath test was used to determine the infection situation of selected objects of helicobacter pylori.Meanwhile, enzyme-linked immunosorbent assay (ELISA) was used to determine the level of serum lipoprotein associated phospholipase A2 (Lp-PLA2).Results Serum Lp-PLA2 levels and carotid intimamedia thickness (IMT) of patients with carotid artery atherosclerosis in Hp infection group were higher than that of Hp non-infection group, and with the degree of Hp infection aggravating in the patients of carotid artery atherosclerosis, their serum Lp-PLA2 levels and carotid IMT were also increased accordingly.F test showed that the differences of serum Lp-PLA2 levels and carotid IMT in different degree of carotid artery atherosclerosis group were statistically significant (P ＜0.01).The incidence of unstable plaque of Hp infection group was obviously higher than that of the Hp non-infection group in the carotid atherosclerosis with plaques with statistical significance (chi square value =4.744, P =0.029).Multivariate linear regression analysis showed that the possibility of complication of unstable plaques in Hp infection group of carotid artery atherosclerosis was 1.82 times than that of non-infection group.With serum Lp-PLA2 every increasing 1 μg/L, the possibility of instability plaque increased by 2％.Conclusions Hp infection may promote the occurrence and development of carotid artery atherosclerosis by increasing serum level of Lp-PLA2 and changing the stability of atherosclerotic plaques.
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Objective To explore the relationship between Helicobacter pylori(Hp) infection and serum homocysteine(Hcy) level ,carotid intima-media thickness and plaque stability in carotid atherosclerosis cases .Methods 206 carotid atherosclerosis pa-tients were collected between March 2012 and January 2013 in our hospital .According to the results of 14C urea breath test ,all the subjects were divided into Hp infection group and non-Hp infection group .And according to the degree of carotid artery atheroscle-rosis ,patients with Hp infection were divided into carotid intima-media thickness thickening group ,stable plaque group and unstable plaque group .The serum Hcy level was detected by enzymatic cycling method ,and the relationship between Hp infection and serum Hcy level ,carotid intima-media thickness and plaque stability in carotid atherosclerosis cases were analyzed .Results Serum Hcy level and carotid carotid intima-media thickness of patients with carotid atherosclerosis in Hp infection group were higher than those in non-Hp infection group(P<0 .01) .The differences in constitution ratio of patients with different types of carotid atherosclerosis in Hp infection group and non-Hp infection group was statistically significant(χ2 =15 .939 ,P=0 .000 3) .In Hp infection group , there were statistically of serum Hcy levels among carotid intima-media thickness thickening group ,stable plaque group and unsta-ble plaque group(P<0 .01) .Linear correlation analysis showed that the serum Hcy level and carotid intima-media thickness were positively correlated in Hp infection group(r=0 .731 ,P<0 .01) .Conclusion Hp infection is likely to promote the development and progression of atherosclerosis through influencing Hcy metabolism and increasing carotid intima-media thickness and instability of carotid atherosclerotic plaque .
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<p><b>OBJECTIVE</b>To summarize the clinical experience from treatment of patients with severe acute respiratory syndrome (SARS).</p><p><b>METHODS</b>Retrospective analysis of seven patients with SARS in Ditan hospital treated since April 22 in 2004 was performed.</p><p><b>RESULTS</b>In the 7 patients, 2 were male, 5 were female, and the average age was (35.3 plus/minus 11.3) years. The main clinical manifestations were fever, cough, minor or serious dyspnea, nausea, signs of injury to other organs, and so on. The treatment regiments included oxygen, small dosage and short period of methylprednisolone (1 to 2 mg/kg), use of ventilator, psychological intervention, and treatment of underlying diseases, after which, all the 7 patients recovered.</p><p><b>CONCLUSION</b>Rational use of methylprednisolone and timely use of ventilator were the key steps of treatment.</p>