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The establishment of the Department of Rare Diseases at Peking Union Medical College Hospital (PUMCH) is a landmark in the disciplinary development of the rare diseases. The establishment of the department will booster the prominence of the influence and leading position of the PUMCH in the field of rare diseases. In addition, the department is instrumental in the development of the hospital of high-quality. The department aims at delivery of better medical care for patients with rare diseases, the training of specialists in rare diseases, and avancement of the preventing and treating rare diseases in China.This paper preliminarily discusses the working basis, significance and discipline development plan of the department of rare diseases at PUMCH.
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ObjectiveTo analyze the occurrence of suspected adverse events following immunization (AEFI) after changing the priority vaccination sites of the adsorbed acellular diphtherior-pertussis-tetanus vaccine (hereinafter referred to as DPT vaccine), so as to provide scientific basis for mass vaccination. MethodsMonitoring data of AEFI for the DPT vaccine in Wujiang District from September 2020 to August 2022 were collected from China's disease prevention and control information system, and the vaccination information of DPT vaccine in all children's vaccination clinics in Wujiang District during the same period was selected. The incidence of AEFI for the DPT vaccine was analyzed and compared. ResultsThe reported incidence of AEFI was significantly lower in the buttocks than that in other sites (P<0.05). The reported incidence of AEFI was significantly higher in booster immunization than that in basic immunization (P<0.05). After inoculation at different sites, the main clinical symptoms of AEFI were local redness and swelling. There were significant differences in the incidence of local redness and swelling, local induration, pruritus and other symptoms (lethargy, abnormal crying, etc.) (P<0.05). There were significant differences in the severity of local redness and swelling in different sites (P<0.05). The degree of redness and swelling in the anterolateral thigh was lower than that in other sites (P<0.05). The local strong reaction of swelling (>5.0 cm) in the deltoid muscle of the upper arm was significantly higher than that in the buttocks (P<0.05). ConclusionThe DPT vaccine is safe in different parts of the body and is worth popularizing.
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Objective:To describe current status and analyze influencing factors of professional quality of life among nurses in the department of hematology and oncology in tertiary grade A children's hospitals, so as to provide some reference for improving the professional quality of life among nurses in the department of pediatric hematological oncology.Methods:This study was a cross-sectional study. By convenient sampling method, the General Data Scale, Professional Quality of Life Scale and Practice Environment Scale were used to investigate 205 nurses in the department of hematology and oncology in 4 tertiary grade A children's hospitals. Influencing factors of professional quality of life among nurses were analyzed by multiple linear regression.Results:Nurses in the department of pediatric hematological oncology with a low level of compassion satisfaction, high level of burnout and secondary trauma stress accounted for 21.0%(43/205), 26.3%(54/205) and 36.6%(75/205), respectively. Multiple linear regression analysis showed that mental health counseling, family supporting and nurses participating in hospital affairs entered into the multiple regression equation of compassion satisfaction ( t=2.08, 4.21, 2.34, all P<0.05), which explained 60.3% of the total variety. Family supporting, turnover intention, sufficient manpower and materials, age and number of children entered into the multiple regression equation of burnout ( t values were -4.42-2.33, all P<0.05), which explained 55.8% of the total variety. Family supporting, sufficient manpower and materials, age entered into the multiple regression equation of secondary trauma stress ( t=-2.37, -2.22, 2.82, all P<0.05), which explained 15.3% of the total variety. Conclusions:The professional quality of life among nurses in the department of pediatric hematology and oncology needs to be improved. Nursing managers should learn from advanced management concepts, actively improve the nursing practice environment of hematology and oncology department, increase the number of nurses, encourage nurses to participate in hospital affairs, attach importance to emotional support for nurses, and carry out regular mental health counseling, continuously improve the quality of professional life of nurses.
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Objective:To investigate the ego-depletion level of adolescents with type 1 diabetes mellitus (T1DM) and to explore its association with glycemic control and quality of life.Methods:This was a cross-sectional survey study. A total of 195 adolescents with T1DM were recruited from the First Affiliated Hospital of Nanjing Medical University from March to September 2022 by convenient sampling method. The Self-Regulatory Fatigue Scale (SRF-S) and Short Form of the Chinese version Diabetes Quality of Life for Youth Scale (C-DQOLY-SF) and the general information questionnaire were collected and the glycated hemoglobin (HbA 1c) value was detected. Results:The total score of self-regulatory fatigue for 195 adolescents with T1DM was (42.23 ± 9.94) points, with a scoring rate of 52.79%, which was at a medium level. Pearson correlation analysis showed that the total score of self-regulatory fatigue was positively correlated with HbA1c ( r = 0.25, P<0.01), and negatively correlated with quality of life ( r = -0.61, P<0.01). The hierarchical linear regression results showed that after controlling for demographic sociolagy and disease variables, ego-depletion had a positive predictive effect on HbA1c ( t = 3.69, P<0.01), while ego-depletion had a negative predictive effect on Quality of life ( t = -8.48, P<0.01). Conclusions:Ego-depletion of adolescents with T1DM may affect their blood glucose control and quality of life, which should be noticed by medical workers.
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Objective:This study aimed to investigate the effect of lipohypertrophy induced by insulin injection on blood glucose fluctuation in patients with type 1 diabetes mellitus.Methods:A total of 80 patients with type 1 diabetes mellitus were recruited between June 2021 and December 2021 from the First Affiliated Hospital of Nanjing Medical University. And these patients all received insulin injection more than six months. Lipohypertrophy was assessed by ultrasound scanning, and blood glucose fluctuation was evaluated using the flash glucose monitoring system(FGM). Univariate analysis and multivariate linear regression were used to analyze the relationship of lipohypertrophy and and core indicators of blood glucose fluctuation.Results:Compared with patients without lipohypertrophy, patients with lipohypertrophy had higher mean amplitude of glycemic excursions(MAGE), coefficient of variation(CV), mean of daily differences(MODD), standard deviation(SD) of blood glucose, time above range(TAR), and high blood glucose index(HBGI; all P<0.05), while time in range(TIR) of glucose markedly become lower( P<0.01). Moreover, multivariate linear regression analysis showed that lipohypertrophy detected by ultrasound was an independent influencing factor of TIR( β=-9.423, P=0.032), MAGE( β=1.114, P=0.039), CV( β=4.304, P=0.041), MODD( β=0.717, P=0.046) after adjusting for age at diagnosis, duration of insulin injection, fasting C-peptide, and daily dose of insulin per unit weight. Conclusion:Lipohypertrophy increases glycemic variability and imposes negative impact on glycemic control rate in patients type 1 diabetes mellitus.
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OBJECTIVE@#To explore the effect of cytokine levels on early death and coagulation function of patients with newly diagnosed acute promyelocytic leukemia (APL).@*METHODS@#Routine examination was performed on 69 newly diagnosed APL patients at admission. Meanwhile, 4 ml fasting venous blood was extracted from the patients. And then the supernatant was taken after centrifugation. The concentrations of cytokines, lactate dehydrogenase (LDH) and ferritin were detected by using the corresponding kits.@*RESULTS@#It was confirmed that cerebral hemorrhage was a major cause of early death in APL patients. Elevated LDH, decreased platelets (PLT) count and prolonged prothrombin time (PT) were high risk factors for early death (P <0.05). The increases of IL-5, IL-6, IL-10, IL-12p70 and IL-17A were closely related to the early death of newly diagnosed APL patients, and the increases of IL-5 and IL-17A also induced coagulation disorder in APL patients by prolonging PT (P <0.05). In newly diagnosed APL patients, ferritin and LDH showed a positive effect on the expression of IL-5, IL-10 and IL-17A, especially ferritin had a highly positive correlation with IL-5 (r =0.867) and IL-17A (r =0.841). Moreover, there was a certain correlation between these five high-risk cytokines, among which IL-5 and IL-17A (r =0.827), IL-6 and IL-10 (r =0.823) were highly positively correlated.@*CONCLUSION@#Elevated cytokine levels in newly diagnosed APL patients increase the risk of early bleeding and death. In addition to the interaction between cytokines themselves, ferritin and LDH positively affect the expression of cytokines, thus affecting the prognosis of APL patients.
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Humans , Leukemia, Promyelocytic, Acute/diagnosis , Cytokines/metabolism , Interleukin-10 , Interleukin-17/metabolism , Interleukin-6/metabolism , Interleukin-5/metabolism , Blood Coagulation Disorders , Ferritins , TretinoinABSTRACT
OBJECTIVES@#To establish an LC-MS/MS method based on single hair micro-segmental technique, and verify the detection of 42 psychoactive substances in 0.4 mm hair segments.@*METHODS@#Each piece of single hair was cut into 0.4 mm segments and extracted by sonication and the segments were immersed in dithiothreitol-containing extraction medium. Mobile phase A was the aqueous solution containing 20 mmol/L ammonium acetate, 0.1% formic acid, and 5% acetonitrile. Mobile phase B was acetonitrile. An electrospray ionization source in positive ion mode was used for data acquisition in multiple reaction monitoring (MRM) mode.@*RESULTS@#The 42 psychoactive substances in hair had a good linear relationship within their respective linear ranges (r>0.99), the limits of detection were 0.2-10 pg/mm, the limits of quantification were 0.5-20 pg/mm, the intra-day and inter-day precisions were 1.5%-12.7%, the intra-day and inter-day accuracies were 86.5%-109.2%, the recovery rates were 68.1%-98.2%, and the matrix effects were 71.3%-111.7%. The method was applied to hair samples collected from one volunteer at 28 d after a single dose of zolpidem, with zolpidem detected in 5 hairs was 1.08-1.60 cm near the root tip, and the concentration range was 0.62-20.5 pg/mm.@*CONCLUSIONS@#The micro-segmental technique of single hair analysis can be applied to the investigation of drug-facilitated sexual assault cases.
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Humans , Chromatography, Liquid/methods , Zolpidem , Tandem Mass Spectrometry/methods , Hair , Acetonitriles , Chromatography, High Pressure LiquidABSTRACT
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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Early identification and intervention is very important in pediatric delirium.The pediatric confusion assessment method for the ICU and the cornell assessment of pediatric delirium are recommended to screen and evaluate pediatric delirium.We can also choose the appropriate tool according to children′s age, anesthesia status and drug use.Objective evaluation tool has been investigated as well, including biomarkers, imaging studies, electroencephalogram and so on.Electroencephalogram has some typical features, which is related to the occurrence of delirium.For the further research, we should look deep into quantitative electroencephalogram and multimodality model to evaluate and predict delirium.
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Objective:To investigate the risk factors associated with failure of trial of labor in primiparous women with preeclampsia (PE) and to establish a risk prediction model.Methods:Primiparae with PE who underwent trial of labor in the Department of Obstetrics of Suzhou Ninth People's Hospital from February 2018 to July 2020 were retrospectively selected as the modeling set, and divided into two groups: the success group and the failure group. Various parameters were compared between the two groups and those data with statistically significant difference were analyzed with multivariate logistic regression analysis. Those factors related to vaginal delivery failure in primiparous women with PE were identified. Based on the results, a risk prediction model was established using R language. Its performance was assessed with receiver operating characteristic (ROC) curve and goodness-of-fit test. This study also retrospectively enrolled primiparae with PE who underwent trial of labor in the same hospital from August 2020 to December 2021 as the validation set. Bootstrap method was used for verification and a calibration chart was created.Results:A total of 312 PE patients were selected as the modeling set with 89 in the failure group and 223 in the success group. Another 146 primiparae with PE were selected as the validation set. Logistic regression analysis showed that older age ( OR=1.609, 95% CI: 1.251-2.483), higher body fat rate in early pregnancy ( OR=1.456, 95% CI: 1.209-2.159) and higher ratio of umbilical artery systolic to diastolic flow velocity within a week before delivery ( OR=1.799, 95% CI: 1.372-2.794) were risk factors for vaginal delivery failure in primiparae with PE, while more maternal education during pregnancy ( OR=0.233, 95% CI: 0.054-0.672) and higher Bishop score ( OR=0.395, 95% CI: 0.258-0.756) were protective factors. A nomogram model to predict the risks of vaginal delivery failure was constructed based on the above five factors. The area under the ROC curve (AUC) of the modeling set was 0.921 (95% CI: 0.847-0.963) with the cut-off value of 0.213, and the corresponding sensitivity and specificity were 0.871 and 0.852, respectively;goodness-of-fit test showed that the observed values matched with those expected ( χ2=7.69, P=0.464); and the calibration curve indicated that the consistency of the prediction model was good. The AUC of the validation set was 0.903 (95% CI: 0.835-0.942) with the sensitivity and specificity of 0.892 and 0.796, respectively; the discrepancy between the observed values and those expected was not significant as indicated by goodness-of-fit test ( χ2=6.82, P=0.512); calibration curve of the validation set showed that the predicted values of the model was consistent with the actual values. Conclusions:The failure of vaginal delivery in primiparae with PE is associated with maternal age, prenatal body fat percentage, ratio of fetal umbilical artery systolic to diastolic flow velocity within a week before delivery, maternal education during pregnancy and Bishop score. The nomogram model based on these five risk factors for prediction of vaginal delivery failure performs well.
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OBJECTIVES@#To study the distribution of total phosphine in phosphine poisoning victims and summarize the characteristics of phosphine poisoning cases.@*METHODS@#The phosphine and its metabolites in the biological samples of 29 victims in 16 phosphine poisoning cases were qualified and quantified by headspace gas chromatography-mass spectrometry.@*RESULTS@#Five victims among 29 were poisoned by ingestion of aluminium phosphide and 24 by inhalation of phosphine gas. Phosphine metabolites were detected in the biological samples of 23 victims, and the concentrations of total phosphine in blood ranged 0.5-34.0 μg/mL. The total concentration of phosphine in liver tissue was up to 71.0 μg/g. Phosphine was not detected in the blood of the other six survived victims, which may be related to the small amount of phosphine exposure and the delay in blood sampling.@*CONCLUSIONS@#The total concentration of phosphine in blood and tissues caused by aluminum phosphine ingestion is higher than that caused by phosphine gas inhalation. The death cases of phosphine inhalation are characterized by long exposure time, repeated exposures and age susceptibility.
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Humans , Aluminum Compounds/analysis , Gas Chromatography-Mass Spectrometry , Liver/chemistry , Phosphines/analysis , Poisoning/diagnosisABSTRACT
At present, the death cases of simple asphyxiant gas acute poisoning are increasing sharply. Common asphyxiant gases in death cases include nitrogen, helium, carbon dioxide, methane, propane, laughing gas, etc. Simple asphyxiant gas has no affinity for biological matrices and escapes quickly, which puts forward new requirements for autopsy procedures, selection and collection of samples, laboratory analysis and identification. This paper reviews the research and development process of death cases caused by simple asphyxiant gas acute poisoning and put forwards the collection and analysis strategy of the samples in such cases. The most valuable biological samples in such cases should be lung tissues associated with the airways, followed by brain tissue and cardiac blood. Gaseous samples from the esophageal cavity, tracheal cavity, pulmonary bronchi, gastric and cardiac areas are also recommended as valuable samples. In the case of postmortem examination, the gas should be injected into gas sample bag directly. Biological materials such as tissue and blood should be directly sealed in head-space vials and analyzed by using the headspace gas chromatography-mass spectrometry.
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Carbon Dioxide/analysis , Autopsy , Gas Chromatography-Mass Spectrometry , Methane/analysis , NitrogenABSTRACT
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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To evaluate the impact of the depth of lipohypertrophy on glycemic control in diabetic patients, 498 diabetic patients were recruited from July 2017 to July 2020 in the First Affiliated Hospital of Nanjing Medical University. Their demographic and clinical data were collected. Lipohypertrophy was assessed with ultrasound. 85.1%(424/498) of patients had lipohypertrophy. The average depth of lipohypertrophy was(5.62±2.49) mm. Compared with HbA 1C≤7%, patients with HbA 1C>7% had significantly higher proportion of lipohypertrophy with depth >5 mm(69.7% vs 81.3%, P<0.05). After adjusting potential confounders, the level of HbA 1C in patients with the depth of lipohypertrophy>5 mm was still significantly higher than those with the depth of lipohypertrophy≤5 mm( OR=1.716, 95% CI 1.104-2.668, P<0.05). The depth of lipohypertrophy may be an independent risk factor for suboptimal HbA 1C. However, prospective studies are still needed to confirm.
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Autoinflammatory diseases (AIDs) are a group of disorders characterized by dysfunction of innate immunity which caused by gene mutations leading to coded proteins changes, finally causing uncontrolled systemic inflammation. AIDs are a group of rare rheumatic and inflammatory diseases. Here, Chinese Rheumatology Association summarized manifestations of the main AIDs, and to standardize the methods for diagnosis of AIDs.
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OBJECTIVE@#To explore the genetic basis for a child with mentally retardation.@*METHODS@#G-banding karyotyping, single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) were performed for the child. Karyotyping and FISH were also carried out for her parents.@*RESULTS@#SNP-array has detected a 5077 kb microdeletion at 5q35.2q35.3 and a 4964 kb microduplication at 7q36.2q36.3 in the child. The results were confirmed by FISH. Based on above results, the father was subsequently found to carry a cryptic t(5;7) (q35.2; q36.2) translocation. The child was verified to have inherited a der(5) t(5;7)(q35.2; q36.2) from her father.@*CONCLUSION@#The 5077 kb microdeletion at 5q35.2q35.3 may have predisposed to the Sotos syndrome in the child. SNP-array combined with G-banding karyotyping and FISH can help to detect cryptic chromosomal translocations among patients.
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OBJECTIVE@#To explore the genetic basis for a fetus with Dandy-Walker malformation.@*METHODS@#G-banding chromosomal karotyping, single nucleotide polymorphism microarray (SNP array) and fluorescence in situ hybridization (FISH) were carried out for the fetus. Chromosomal karyotyping and FISH assay were also carried out for both parents.@*RESULTS@#SNP array has detected a 4266 kb microdeletion at 6p25.3p25.1 in the fetus, which was confirmed by FISH. FISH analysis of the parents demonstrated that the father has carried a cryptic t(6;14) (p25.1;p13) translocation, while the fetus has a der(6)t(6;14)(p25.1;p13) derived the paternal translocation.@*CONCLUSION@#The der(6)t(6;14)(p25.1;p13) probably underlies the Dandy-Walker malformation in the fetus. The 6p25.3p25.1 microdeletion is due to unbalanced gametes produced by the father's cryptic balanced translocation.
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Female , Humans , Male , Pregnancy , Dandy-Walker Syndrome , Diagnosis , Genetics , Fetus , In Situ Hybridization, Fluorescence , Karyotyping , Prenatal Diagnosis , Translocation, GeneticABSTRACT
Objective To analyze the association of the behaviors of playing mahjong and watching mobile phone with depression in rural women in Hubei Province, so as to provide suggestions for improving their physical and mental health. Methods A stratified cluster sampling method was used to investigate 1367 adult women in 8 administrative villages of 7 counties/cities in Hubei Province. The depression status was measured by the Center for Epidemiological Studies Depression Scale-10 (CESD-10) and the percentage conversion was carried out. The higher the score was, the lower the degree of depression was, and the better the mental health status was. Results The CESD-10 scores of 15-44 years old women(77.63±13.95)were higher than those of 45-64 years old (73.17+17.01) and over 65 years old (69.25+18.16) (P0.05). Conclusions There is a correlation between watching mobile phone and depression of rural women in Hubei Province, reducing the use of mobile phones by rural women, especially middle-aged women, is worthy of attention in the future work of health education and Women’s Federation.
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Objective@#To explore the genetic basis for a fetus with Dandy-Walker malformation.@*Methods@#G-banding chromosomal karotyping, single nucleotide polymorphism microarray (SNP array) and fluorescence in situ hybridization (FISH) were carried out for the fetus. Chromosomal karyotyping and FISH assay were also carried out for both parents.@*Results@#SNP array has detected a 4266 kb microdeletion at 6p25.3p25.1 in the fetus, which was confirmed by FISH. FISH analysis of the parents demonstrated that the father has carried a cryptic t(6; 14)(p25.1; p13) translocation, while the fetus has a der(6)t(6; 14)(p25.1; p13) derived the paternal translocation.@*Conclusion@#The der(6)t(6; 14)(p25.1; p13) probably underlies the Dandy-Walker malformation in the fetus. The 6p25.3p25.1 microdeletion is due to unbalanced gametes produced by the father’s cryptic balanced translocation.