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1.
Chinese Journal of Hematology ; (12): 388-394, 2023.
Article in Chinese | WPRIM | ID: wpr-984634

ABSTRACT

Objective: To analyze the efficacy and prognostic factors of allogeneic hematopoietic stem cell transplantation (allo-HSCT) for treating T lymphoblastic leukemia/lymphoma (T-ALL/LBL) . Methods: This study retrospectively evaluated 119 adolescent and adult patients with T-ALL/LBL from January 2006 to January 2020 at Peking University Third Hospital and Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences. Patients were divided into chemotherapy-only, chemotherapy followed by allo-HSCT, and chemotherapy followed by autologous hematopoietic stem cell transplantation (auto-HSCT) groups according to the consolidation regimen, and the 5-year overall survival (OS) and progression-free survival (PFS) rates of each group were compared. Results: Among 113 patients with effective follow-up, 96 (84.9%) patients achieved overall response (ORR), with 79 (69.9%) having complete response (CR) and 17 (15.0%) having partial response (PR), until July 2022. The analysis of the 96 ORR population revealed that patients without transplantation demonstrated poorer outcomes compared with the allo-HSCT group (5-year OS: 11.4% vs 55.6%, P=0.001; 5-year PFS: 8.9% vs 54.2%, P<0.001). No difference was found in 5-year OS and 5-year PFS between the allo-HSCT and auto-HSCT groups (P=0.271, P=0.197). The same results were achieved in the CR population. Allo-HSCT got better 5-year OS (37.5% vs 0) for the 17 PR cases (P=0.064). Different donor sources did not affect 5-year OS, with sibling of 61.1% vs hap-haploidentical of 63.6% vs unrelated donor of 50.0% (P>0.05). No significant difference was found in the treatment response in the early T-cell precursor acute lymphoblastic leukemia/lymphoma (ETP) and non-ETP populations. The ETP group demonstrated lower 5-year OS compared with the non-ETP group in the chemotherapy alone group (0 vs 12.6%, P=0.045), whereas no significant difference was found between the ETP and non-ETP groups in the allo-HSCT group (75.0% vs 62.9%, P=0.852). Multivariate analysis revealed that high serum lactate dehydrogenase level, without transplantation, and no CR after chemotherapy induction were independently associated with inferior outcomes (P<0.05) . Conclusion: Allo-HSCT could be an effective consolidation therapy for adult and adolescent patients with T-ALL/LBL. Different donor sources did not affect survival. Allo-HSCT may overcome the adverse influence of ETP-ALL/LBL on OS.


Subject(s)
Adult , Adolescent , Humans , Prognosis , Precursor T-Cell Lymphoblastic Leukemia-Lymphoma , Retrospective Studies , Precursor Cell Lymphoblastic Leukemia-Lymphoma/therapy , Hematopoietic Stem Cell Transplantation , Lymphoma, T-Cell , Unrelated Donors
2.
Shanghai Journal of Preventive Medicine ; (12): 380-386, 2023.
Article in Chinese | WPRIM | ID: wpr-972778

ABSTRACT

ObjectiveTo investigate the dietary preference and nutritional knowledge needs of the elderly people who dined at meal service sites. MethodsUsing the form of stratified and convenience sampling method with self-designed questionnaire was used, in November 2021, to select 700 elderly people who dine at meal service sites in 7 jurisdictions in Shanghai were selected, and a self-designed questionnaire was used to investigate the basic information. Results91.64% of the elderly surveyed would eat at relatively fixed meal service sites, and the total Dietary Diversity Score (DDS9) was 3.56±1.46. 41.45% of the elderly with diseases preferred unhealthy cooking methods. Only 8.03% of the surveyed seniors said they were unwilling to accept targeted and personalized nutrition tips and reminders. Multivariate logistic regression analysis showed that the probability reaching the “understanding” level of “Food Guide Pagoda for Chinese Residents” and “Four Principles Recommended by the Core Dietary Guidelines for the Elderly” was different in the elderly with different education levels. The willingness of the elderly to expect to receive different nutrition tips and reminders was related to whether they cared about the corresponding contents. There was a statistically significant difference (P<0.05) among the elderly who were concerned about different health problems in terms of the willingness to receive different nutritional tips. There were significant differences in the proportion of elderly people with different health status for intervention (χ2=5.402, P<0.05). ConclusionThe elderly who dine at meal service sites are highly dependent on the sites, have a low level of dietary diversification, and do not have a high degree of understanding of nutrition-related knowledge, and have a high demand for targeted nutritional interventions. Nutritional interventions for the sick elderly should be piloted through multiple channels.

3.
Chinese Journal of Applied Clinical Pediatrics ; (24): 54-59, 2023.
Article in Chinese | WPRIM | ID: wpr-989990

ABSTRACT

Objective:To investigate the incidence rate and gene variation of methylmalonic academia (MMA) in Ji′nan city by analyzing biochemical and genetic screening results, and to explore the carrier frequency of MMA-related pathogenic genes in the population in Ji′nan.Methods:The children diagnosed with MMA by tandem mass spectrometry screening in Ji′nan Neonatal Disease Screening Centre from May 2011 to May 2022 were enrolled in this study.Their genetic test results were retrospectively analyzed and summarized.The dried heel blood tablets collected from 6 800 newborns were tested for neonatal gene screening. MMAA, MMAB, MMACHC and MMUT genes in 4 800 cases were detected by high-throughput sequencing+ target area capture technology.Ultra-multiplex polymerase chain reaction+ target gene locus capture technology was used to detect 174 target loci of 8 genes related to MMA in 2 000 cases.The hotspot mutation and related gene carrier rate of MMA were analyzed. Results:A total of 367 452 newborns were screened by tandem mass spectrometry, and 103 cases (56 males and 47 females) were diagnosed with MMA by screening.The estimated incidence of MMA was 1∶3 567.Among the 103 MMA cases, 76 were genetically diagnosed, and 4 gene variants of MMA ( MMAHC, MMUT, MMAA, MMADHC) were identified.A total of 6 800 neonates underwent neonatal genetic screening.Three of them were diagnosed with MMA.About 318 infants carried pathogenic variants of MMA, with a total carrier rate of 4.68%.Specifically, the carrier rates of MMACHC and MMUT gene variants were 3.09%(210/6 800) and 1.43% (97/6 800), respectively. Conclusions:MMA is the most common organic acid metabolism disorder in our country.The incidence and carrier rate of this disease are high in Jinan city.Neonatal genetic screening is an important supplement to neonatal biochemical screening.Carrier screening for MMA-related pathogenic genes is recommended for couples of childbearing age in Jinan.

4.
China Pharmacy ; (12): 2162-2166, 2023.
Article in Chinese | WPRIM | ID: wpr-987149

ABSTRACT

OBJECTIVE To explore the pharmaceutical care model for elderly patients with drug-related problems (DRPs) based on the comprehensive medication management review (CMMR), and to observe the effect of pharmaceutical care under the model. METHODS The pharmaceutical care new model for elderly patients was established by concerning CMMR guidelines in Australia. In other words, clinical pharmacists receive medical care through referral by health practitioners and active consultation by patients or their caregivers. Visits were made by a combination of face-to-face and telephone interviews. Follow-up was carried out in the form of outpatient follow-up, telephone follow-up, appointment, and home guidance to know about the treatment of DRPs by healthcare practitioners or patients.Under this model, the occurrence status and classification of DRPs in elderly patients were studied through cross-sectional investigation. The effect of pharmaceutical care was evaluated from the aspects of hospitalization rate, adverse drug reaction (ADR) incidence,medication compliance, the number of medications, blood lipid level, etc., through self-before-after comparison. RESULTS In this study, a patient-centered, evaluation-intervention-reevaluation closed-loop pharmaceutical care model was formed. Among 317 study subjects, the average number of DRPs was 1.03 (0-7) cases. Compared before and after the intervention, the number of drug types increased from 2.00(0.00,3.00) to 2.00(1.00,3.00), but the level of low-density lipoprotein cholesterin in patients decreased from 3.48 (2.58, 4.29) mmol/L to 3.11 (2.29,3.81) mmol/L (P<0.05). There was no statistical significance in hospitalization rate, ADR incidence within or medication compliance. CONCLUSIONS CMMR-based pharmaceutical care model can effectively identify and manage the patients’ DRPs and reduce the level of blood lipid.

5.
Chinese Critical Care Medicine ; (12): 265-268, 2022.
Article in Chinese | WPRIM | ID: wpr-931861

ABSTRACT

Objective:To investigate the effect of positive and negative pressure extubation on mechanical ventilation patients in the intensive care unit (ICU).Methods:A prospective randomized controlled study was performed, 105 ICU patients who successfully passed the spontaneous breathing test (SBT) after mechanical ventilation of Nanjing Jiangbei Hospital Affiliated to Nantong University from January 2019 to March 2021 were enrolled. According to random number table method, they were randomly divided into positive pressure extubation group (53 cases) and negative pressure extubation group (52 cases). During extubation, all patients were placed in semi-decubitus position (raising the head of bed at an angle range from 30°- 45°), the secretions from mouth, nose, throat and trachea were removed. In the negative pressure extubation group, the sputum suction tube was inserted into the tracheal tube and passed over the distal opening to carry out continuous negative pressure suction in the tracheal tube after disconnecting the ventilator. Meanwhile, after the tracheal tube balloon was evacuated, the sputum suction tube was pulled out together with the tracheal tube. In the positive pressure extubation group, the patients were guided to inspiratory forcibly under the original SBT mode. When the patients reached the inspiratory peak, the ballon was evacuated and the tracheal tube was removed. After extubation, all patients were given nasal catheter oxygen inhalation (oxygen flow 5 L/min). Arterial blood gas analysis indexes [pH value, arterial partial pressure of oxygen (PaO 2) and arterial partial pressure of carbon dioxide (PaCO 2)] were recorded 5 minutes and 1 hour after extubation in both groups. Vital signs (including tachypnea, tachycardia, elevated blood pressure and decreased oxygen saturation) and complications (including severe cough, airway hyperresponsiveness and pneumonia) were observed 30 minutes after extubation in both groups. Results:Five minutes after extubation, blood gas analysis showed that the PaO 2 of positive pressure extubation group was significantly higher than that of negative pressure extubation group [mmHg (1 mmHg≈0.133 kPa): 123.4±30.2 vs. 111.0±21.1, P < 0.05], the pH value and PaCO 2 in positive pressure extubation group were slightly lower than that of negative pressure extubation group [pH value: 7.411±0.042 vs. 7.419±0.040, PaCO 2 (mmHg): 39.7±4.7 vs. 40.5±5.6], but the differences were not statistically significant (both P > 0.05). One hour after extubation, the pH value, PaO 2 and PaCO 2 in positive pressure extubation group were slightly lower than those in negative pressure extubation group, but the differences were not statistically significant. Within 30 minutes after extubation, the incedences of tachypnea, tachycardia, elevated blood pressure and oxygen desaturationin in positive pressure extubation group were significantly lower than those in negative pressure extubation group [tachypnea: 9.4% (5/53) vs. 28.8% (15/52), tachycardia: 15.1% (8/53) vs. 32.7% (17/52), elevated blood pressure: 11.3% (6/53) vs. 30.8% (16/52), oxygen desaturation: 7.5% (4/53) vs. 34.6% (18/52), all P < 0.05], the incidence of severe cough in positive pressure extubation group was significantly lower than that in negative pressure extubation group [9.4% (5/53) vs. 30.8% (16/52), P < 0.05], but there was no significant difference in the incidence of complications of airway hyperresponsiveness between the two groups [1.9% (1/53) vs. 5.8% (3/52), P > 0.05]. No pneumonia occurred in both groups within 48 hours after extubation. Conclusion:The positive pressure extubation method can ensure full oxygenation of patients undergoing mechanical ventilation in ICU, avoid hypoxia, and reduce the occurrence of hypoxia and severe cough, which is more conducive to the stability of vital signs.

6.
Chinese Journal of Hematology ; (12): 215-220, 2022.
Article in Chinese | WPRIM | ID: wpr-929560

ABSTRACT

Objective: This study aimed to determine the efficacy of dose-enhanced immunochemotherapy followed by autologous peripheral blood stem cell transplantation (ASCT) in young patients with newly diagnosed high-risk aggressive B-cell lymphoma. Methods: A retrospective study was conducted to examine the clinical and survival data of young patients with high-risk aggressive B-cell lymphoma who received dose-enhanced immunochemotherapy and ASCT as first-line treatment between January 2011 and December 2018 in Blood Diseases Hospital. Results: A total of 63 patients were included in the study. The median age range was 40 (14-63) years old. In terms of the induction therapy regimen, 52 cases received R-DA-EP (D) OCH, and the remaining 11 received R-HyperCVAD/R-MA. Sixteen (25.4% ) patients achieved partial response in the mid-term efficacy assessment, and ten of them were evaluated as complete response after transplantation. The median follow-up was 50 (8-112) months, and the 3-year progression-free survival (PFS) rate and overall survival (OS) rate were (83.9±4.7) % and (90.4±3.7) % , respectively. Univariate analysis demonstrated that age-adjusted international prognostic index ≥2 scores was a negative prognostic factor for OS (P=0.039) , and bone marrow involvement (BMI) was an adverse prognostic factor for OS (P<0.001) and PFS (P=0.001) . However, multivariate analysis confirmed that BMI was the only independent negative predictor of OS (P=0.016) and PFS (P=0.001) . Conclusions: The use of dose-enhanced immunochemotherapy in combination with ASCT as first-line therapy in the treatment of young, high-risk aggressive B-cell lymphoma results in good long-term outcomes, and BMI remains an adverse prognostic factor.


Subject(s)
Adult , Humans , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Disease-Free Survival , Hematopoietic Stem Cell Transplantation , Lymphoma, B-Cell , Peripheral Blood Stem Cell Transplantation , Prognosis , Retrospective Studies , Stem Cell Transplantation , Transplantation, Autologous
7.
Chinese Journal of Experimental Traditional Medical Formulae ; (24): 217-226, 2021.
Article in Chinese | WPRIM | ID: wpr-906040

ABSTRACT

As a new technology with unique drug delivery advantages, nanoemulsion has been widely used in the field of traditional Chinese medicine (TCM) preparations. By searching, classifying and sorting out the literature reports at home and abroad in recent years, this paper systematically expounded the application advantages and production mechanism of nanoemulsion in delivering effective components of TCM from three aspects of improving oral bioavailability, enhancing targeting effect and delaying drug release. The current formulation optimization strategies, preparation processes and quality evaluation indicators commonly used in TCM nanoemulsion were summarized. Based on the research status of TCM nanoemulsion with different active components, the common problems and possible solutions in the development of TCM nanoemulsion were discussed, and the future research hotspots and directions of TCM nanoemulsion were prospected. This article clarifies the feasibility of nanoemulsion for enriching the selection of TCM dosage forms, which can provide reference for the subsequent rational design and improvement of TCM preparations. At the same time, it is revealed that the research focus of TCM nanoemulsion in the future lies in the integrated research of TCM compounds, and shows a trend of multi-disciplinary joint and targeted research.

8.
Journal of Experimental Hematology ; (6): 812-818, 2021.
Article in Chinese | WPRIM | ID: wpr-880152

ABSTRACT

OBJECTIVE@#To summarize and compare the clinical baseline characteristics of patients with monoclonal gammopathy of undetermined significance (MGUS), primary light chain amyloidosis (pAL), multiple myeloma (MM), or MM with concurrent amyloidosis, especially the differences in cytogenetic abnormalities.@*METHODS@#The clinical data of 15 cases of MGUS, 34 cases of pAL, 842 cases of MM and 23 cases of MM with concurrent amyloidosis were analyzed and compared retrospectively.@*RESULTS@#Cytogenetic statistics showed that the incidence of t (11; 14) in the four groups (MGUS vs pAL vs MM vs MM with concurrent amyloidosis) was 0%, 33.3%, 16.4%, and 15.8%, respectively (P=0.037); that of 13q deletion was 20.0%, 14.7%, 45.8% and 56.5%, respectively (P<0.001); gain of 1q21 was 50.0%, 12.5%, 47.4% and 40.9%, respectively (P=0.001). Proportion of pAL patients with 0, 1 and≥2 cytogenetic abnormalities (including 13q deletion, 17p deletion, 1q21 amplification and IgH translocation) accounted for 41.9%, 41.9% and 16.1%, respectively; while the proportion of the same category in MM was 17.6%, 27.3%, and 55.2% respectively; this ratio of MM with concurrent amyloidosis was more similar to MM. Subgroup analysis showed that genetic abnormalities (including 13q deletion, 17p deletion and 1q21 amplification) were comparable within t (11; 14) negative and positive groups. Compared with positive cases, t(11; 14) negative patients with MM or MGUS were more likely to have 13q deletions and multiple genetic abnormalities.@*CONCLUSION@#Clinical characteristics of pAL, especially cytogenetic abnormalities, are significantly different from MM with concurrent amyloidosis. It suggests that although the onset characteristics are similar, actually the two diseases belong to different disease subtypes which should be carefully predicted and identified.


Subject(s)
Humans , Amyloidosis , In Situ Hybridization, Fluorescence , Monoclonal Gammopathy of Undetermined Significance/complications , Multiple Myeloma , Retrospective Studies
9.
West China Journal of Stomatology ; (6): 260-266, 2021.
Article in English | WPRIM | ID: wpr-878441

ABSTRACT

OBJECTIVES@#To study the effect and mechanism of low-level laser irradiation (LLLI) on lipopolysaccharide (LPS)-induced inflammatory injury of human periodontal ligament fibroblasts (hPDLFs).@*METHODS@#hPDLFs were inoculated into well plates and randomly divided into the normal group, LPS group, and LPS+LLLI group. The cells in the normal group were cultured in conventional medium. The hPDLFs in the LPS and LPS+LLLI groups were cultured in RPMI1640 medium containing 1 mg·L@*RESULTS@#Compared with the normal group, the LPS group showed increased apoptosis rate of hPDLFs and intracellular free Ca@*CONCLUSIONS@#LLLI has a protective effect on the inflammatory injury of hPDLFs induced by LPS, and the effect is most obvious when the irradiation intensity is 4 J·cm


Subject(s)
Humans , Cells, Cultured , Fibroblasts , Interleukin-1beta , Lasers , Lipopolysaccharides , Periodontal Ligament , Tumor Necrosis Factor-alpha
10.
Chinese Critical Care Medicine ; (12): 676-679, 2021.
Article in Chinese | WPRIM | ID: wpr-909383

ABSTRACT

Objective:To investigate the diagnostic value of neutrophil CD64 index in sepsis patients in intensive care unit (ICU).Methods:A prospective case-control study was conducted, the patients admitted to ICU of Jiangbei People's Hospital Affiliated to Nantong University from December 2016 to June 2020 were enrolled. According to the criteria of Sepsis 3, 107 patients diagnosed with sepsis were classified as the sepsis group, 112 patients without infection were classified as control group. Peripheral venous blood samples were collected within 24 hours after ICU admission, neutrophil CD64 index, C-reactive protein (CRP), procalcitonin (PCT), white blood cell count (WBC) were detected. Receiver operating characteristic curve (ROC curve) was used to evaluate the diagnostic value of neutrophil CD64 index, CRP, PCT and WBC for sepsis.Results:The neutrophil CD64 index, CRP and PCT in sepsis group were significantly higher than those in control group [neutrophil CD64 index: 9.03±5.59 vs. 3.18±1.50, CRP (mg/L): 146.9±68.3 vs. 46.5±35.8, PCT (ng/L): 31.82±14.71 vs. 1.87±1.42, all P < 0.05]. ROC curve analysis showed that neutrophil CD64 index, CRP and PCT had certain diagnostic value for sepsis, the area under ROC curve (AUC) were 0.924, 0.915 and 0.879, respectively, the 95% confidence intervals (95% CI) were 0.871-0.978, 0.855-0.975, 0.807-0.951, respectively, P values were 0.016, 0.017 and 0.026, respectively. Among the three indicators, the diagnostic value of neutrophil CD64 index was much higher. When the optimal cut-off value was 4.32, the sensitivity and specificity were 83.6% and 88.7%, respectively, which were higher than the sensitivity (75.1%, 76.3%) and specificity (87.2%, 82.5%) of CRP and PCT. Conclusion:Neutrophil CD64 index is a valuable biomarker for the diagnosis of sepsis in ICU.

11.
Chinese Acupuncture & Moxibustion ; (12): 54-57, 2020.
Article in Chinese | WPRIM | ID: wpr-781769

ABSTRACT

The value of the "touching-bone" acupuncture technique in clinical application was explained through the investigation on the origin of the theory of the "touching-bone" acupuncture technique, the analysis on the characteristics of acupoint selection, the introduction of clinical characteristics and the discussion on the mechanism of acupuncture in treatment. The "touching-bone" acupuncture technique refers to deep needling method, originated from the short needling and needling of the ancient needling methodslisted in the . The target points are the reaction sites on meridian near to bone and the attachments of soft tissues on bone. During the needle insertion, the needle tip is thrust deeply to the bone or the needle body is closely attached to the bone so as to stimulate periosteum specifically. This needling technique contributes to the satisfactory effect on spasmodic, deep-located and intractable pain disorder, motor system diseases, mental diseases and cerebral diseases, etc. Hence, this acupuncture technique deserves to be promoted in clinical application and explored in research.


Subject(s)
Acupuncture Therapy , Meridians , Needles
12.
Journal of Experimental Hematology ; (6): 839-843, 2019.
Article in Chinese | WPRIM | ID: wpr-771875

ABSTRACT

OBJECTIVE@#To investigate the clinical characteristics and therapeutic responte of patients with B-CLPD mainly manifested as cytopenia, so as to deeply understand this disease.@*METHODS@#The clinical data of 13 B-CLPD patients with hematocytopenia as main manifestation, and the absolute count of lymphocytes<5×10/L, absence of hepatosplenic lymph-nodes and extramedullary invasion tin our department fron 2003 to 2018 were analyzed retrospectively. The clinical characteristics, therapeutic efficacy and adverse reactions of 3 patients were summarized.@*RESULTS@#The median age of patients was 59 (43-76) years old, the median of lymphocyte was 1.86 (0.69-4.8) ×10/L, the levels of LDH and β2-microglubulin were normal in most patients, the monolineage and multilencage hematopoietic failure of different degrees existed in most all patients. The lymphocyte ratio in patients was 18.5%-94.0%, CD20 was positive in all patients, and yet the CD5-positive and CD-negative existed in 7 and 6 cases respectively. There was no significant difference in ratio of lymphocyte invasion among different immunophemtype. The FISH detection showed that there were no high risk genetic types. 92.3% of patients received rituximab treatment, most of them received chemotherapy of rituximab combined with C0P/CHOP like regimen, only 2 patients received fludarabine for comparatively short course. The analysis indicated that 8 out of 13 patients showed a certain theropeutic efficacy, however the drug-related hematopoietic suppression occurred in both 2 patients treated with fludarabin.@*CONCLUSIONS@#The B-CLPD accompanied with hematocytopenia often displays bone marrow hypohematopoiesis of different degree and easily confuses with the congenital and acquired hemotopoietic faiture diseases. The rituximab treatment may be more appropreate for these patients, but for patients received chemotherapy containing fludarabin, the persistant hematopoietic failure must be especially watched out.


Subject(s)
Adult , Aged , Humans , Middle Aged , Antigens, CD20 , Antineoplastic Combined Chemotherapy Protocols , B-Lymphocytes , Cyclophosphamide , Lymphoproliferative Disorders , Retrospective Studies , Rituximab
13.
Chinese Journal of Contemporary Pediatrics ; (12): 972-976, 2019.
Article in Chinese | WPRIM | ID: wpr-775072

ABSTRACT

OBJECTIVE@#To study the types and characteristics of TUBB1 mutation in children with congenital hypothyroidism (CH) and thyroid dysgenesis (TD) in Shandong, China.@*METHODS@#Mutations of the whole coding region of the TUBB1 gene were analyzed for 289 children with CH and TD in Shandong. Whole-genome DNA was extracted from peripheral blood leukocytes. PCR multiplication was performed for the whole coding region of the TUBB1 gene. Sanger sequencing was performed for the PCR products, and a biological information analysis was performed.@*RESULTS@#Among the 289 children with CH and TD, 4 (1.4%) were found to have a c.952C>T(p.R318W) heterozygous mutation in the TUBB1 gene, resulting in the change of tryptophan into arginine at codon 318 of TUBB1 protein. This mutation was evaluated as "potentially pathogenic" based on the classification criteria and guidelines for genetic variation by American College of Medical Genetics and Genomics.@*CONCLUSIONS@#A novel mutation is detected in the exon of the TUBB1 gene in children with CH and TD in Shandong, suggesting that the TUBB1 gene may be a candidate pathogenic gene for CH children with TD.


Subject(s)
Child , Humans , China , Congenital Hypothyroidism , Genetics , DNA Mutational Analysis , Mutation , Thyroid Dysgenesis , Genetics , Tubulin , Genetics
14.
Chinese Journal of Contemporary Pediatrics ; (12): 370-374, 2019.
Article in Chinese | WPRIM | ID: wpr-774069

ABSTRACT

This study analyzed the clinical features of 5 children with hereditary spherocytosis (HS) and the characteristics of ANK1 and SPTB gene mutations. All 5 children were confirmed with HS by peripheral blood genetic detection. Anemia, jaundice and splenomegaly were observed in all 5 children. Three children had an increase in erythrocyte osmotic fragility. All 5 children had negative results of the Coombs test, glucose 6 phosphate dehydrogenase test, sucrose hemolysis test, acidified-serum hemolysis test and thalassemia gene test. Peripheral blood smear showed an increase in spherocyte count in one child. High-throughput sequencing revealed ANK1 gene mutations in patients 1 to 3, namely c.3398(exon29)delA, c.4306C>T and c.957(exon9)_c.961(exon9)delAATCT, among which c.3398(exon29)delA had not been reported before. Patient 4 had c.318delGExon3 mutation in the SPTB gene. Patient 5 had mutations in the SPTB and SLC4A1 genes, among which c.3484delC in the SPTB gene was a spontaneous mutation; the mutation site of the SLCA4A1 gene was inherited from the father and was a non-pathogenic gene. This study suggests that anemia, jaundice and splenomegaly are major clinical manifestations of HS children. Most children with HS do not have the typical spherocytic changes. Genetic detection may help with the accurate diagnosis of HS.


Subject(s)
Humans , Ankyrins , Genetics , High-Throughput Nucleotide Sequencing , Mutation , Spectrin , Genetics , Spherocytosis, Hereditary , Genetics
15.
Journal of Biomedical Engineering ; (6): 85-93, 2019.
Article in Chinese | WPRIM | ID: wpr-773315

ABSTRACT

Supported lipid bilayers (SLBs) have been widely used in biomedical and bioengineering research because its structure and function are similar to natural cell membrane. A fluorescence recovery after photobleaching (FRAP) technique was used to measure the lateral diffusion of the SLBs composed of 1, 2-dioleoyl-sn-glycero-3-phosphocholine (DOPC) and 1, 2-dioleoyl-sn-glycero-3-[(N-(5-amino-1-carboxyp-entyl) iminodiacetic acid)] (DGS-NTA) on the glass slide, and the effects of the DOPC-to-DGS-NTA ratio, small unilamellar vesicles (SUV) producing method, sizes of bleaching areas and concentrations of loading proteins on the SLBs fluidity and diffusion coefficient were studied systematically in this paper. The results demonstrated that: (1) SUV made by probe sonication exhibited more uniform and smaller size compared with that made by film extrusion, but the whole process of SLBs formation must not be exposed to air. (2) The fluorescence recovery rate and diffusion coefficient of the SLBs decreased with the increasing bleaching area size. With the mole ratio of DOPC to DGS-NTA decreasing from 98∶2 to 84∶16, the fluidity and fluorescence recovery degree decreased gradually, and the SLBs would lose its fluidity if the ratio reached to 82∶18. (3) The average fluorescence intensity of SLBs increased linearly with the loading protein concentration (10-40 nmol·L ), and the protein showed good mobility on the SLBs. The study would provide a good platform of bio-membrane for further research on interactions among cell membrane molecules and subsequent signals response.

16.
Chinese Journal of Practical Pediatrics ; (12): 22-25, 2019.
Article in Chinese | WPRIM | ID: wpr-817819

ABSTRACT

Medium chain acyl CoA dehydrogenase deficiency is a mitochondrial fatty acid oxidative deficiency disease. It has various clinical manifestations,such as hypoglycemia,lethargy,myasthenia,etc. Different clinical manifestations and atypical biochemical examination can increase the difficulty of diagnosis,which is more likely to result in misdiagnosis. If it is not treated in time,mortality and the rate of sequelae are high,but if confirmed by neonatal screening and treated in time,satisfactory results can be obtained.

17.
Acta Academiae Medicinae Sinicae ; (6): 485-491, 2019.
Article in Chinese | WPRIM | ID: wpr-776006

ABSTRACT

To analyze the treatment and prognosis of T cell acute lymphoblastic leukemia(T-ALL)in adults. Method The clinicobiogical and survival data of 68 adult patients with newly diagnosis T-ALL were retrospectively analzyed. Results The median age of these 68 patients was 23 years(14-60 years).T-ALL was more common in men(81%).After the first cycle of treatment,complete remission was achieved in 50 patients(73%).The highest complete remission(CR) rate was in patients with cortex T-ALL(100%),followed by other T-ALL(73%)and early T-cell precursor lymphoblastic leukemia(54%),(=5.712,=0.058).The CR rate for adults aged >35 years was significantly lower than that of patients aged ≤ 35 years(40% 79%,=6.364,=0.012).The overall CR rate after the second treatment course was 93%.For patients treated with chemotherapy,autograft hematopoietic stem cell transplantation(auto-SCT),and allogeneic SCT,the median relapse free survival was 10 months,24 months,and not reached,respectively(=0.002).The 5-year overall survival rate was 25% for all patients;for patients treated with chemotherapy,auto-SCT and allogeneic SCT,the median overall survival was 24 months,34 months,and 30 months,respectively(=0.007),and the 5-year overall survival rate was 9%,33%,and 38%(=0.037).Multivariate analysis showed leukocyte count ≥100×10 /L was a risk factor for decreased relapse free survival(risk ratio 2.540,95%=1.058-6.099,=0.037). Conclusion Adult T-ALL patients have poor prognosis,which may be improved by SCT.


Subject(s)
Adolescent , Adult , Female , Humans , Male , Middle Aged , Young Adult , Disease-Free Survival , Hematopoietic Stem Cell Transplantation , Precursor Cell Lymphoblastic Leukemia-Lymphoma , Diagnosis , Therapeutics , Precursor T-Cell Lymphoblastic Leukemia-Lymphoma , Diagnosis , Therapeutics , Prognosis , Remission Induction , Retrospective Studies , Survival Rate , Treatment Outcome
18.
Journal of Experimental Hematology ; (6): 1804-1810, 2018.
Article in Chinese | WPRIM | ID: wpr-774382

ABSTRACT

OBJECTIVE@#To compare the sensitivity and specificity of real-time fluorescent quanttative PCR(FQ-PCR), blood culture and serum capsular antigen test for the detection of blood flow infection with cryptococcus reoformans, so as to provide the experimental evidence for use of FQ-PCR to detect the blood flow infection with cryptococcus neoformans.@*METHODS@#Sixty male Sprague-Dawley (SD) rats were randomly divided into group A (immune suppression plus infection), group B (immune normal plus infection), group C (immune suppression plus non infection) and group D (normal control). The rats in group A were injected intraperitoneally with cyclophosphamide at D1 of experiment and were injected with suspension of cryptococcus neoformans by tail vein at D4 of experiment; the rats in group B were injected intraperitoneally with saline at D1 and were injected with suspension of cryprococcus neoformans by tail vein at D4; the rats in group C were injected intraperitoneally with cyclophosphamide at D1 and were injected with saline by tail vein at D4; the rats in group D were injected intaperitoneally with saline at D1 and were injected with saline by tail vein at D4.At D 4 after successful extablishment of rat model with infection, the blood samples were collected from ocular veneous plexus at 0, 6, 12, 24, 48 and 72 hours by parity number respectively, then the plasma was extracted, and the blood samples infected at different time were detected by FQ-PCR, and at the same time, the blood culture and serum capsular antigen test were performed. The detected results obtained from above-mentioned 3 kinds of detection methods were compared.@*RESULTS@#The FQ-PCR detection of cryptococcus neoformoms showed that the positive rate detected after 12 hours in A group significantly increased (P<0.05), as compared with B, C and D groups. For the blood samples, the positive rate detected by FQ-PCR was significantly higher than that detected by the blood culture and serum capsular antigen test, moreover the detected results could be quantified, and difference was statistically significant (P<0.05).@*CONCLUSION@#The FQ-PCR system for detection of cryptococcus neoformant can detect the pathogens in blood of infected rats, and its sensitivity is superior to the blood culture and serum capsular antigen test; the FQ-PCR can detect the pathogens in blood of infected rats much more early, as compared with the blood culture and serum capsular antigen test.


Subject(s)
Animals , Female , Male , Pregnancy , Rats , Cryptococcus neoformans , Rats, Sprague-Dawley , Real-Time Polymerase Chain Reaction , Sensitivity and Specificity
19.
Journal of Xinxiang Medical College ; (12): 16-21, 2018.
Article in Chinese | WPRIM | ID: wpr-699461

ABSTRACT

Objective To evaluate the effect of photodynamic therapy (PDT) on dental caries in rats,and to investigate the mechanism.Methods Forty male Wistar rats (21 days old,specific pathogen-free,weaned) with dental caries induced by Streptococcus mutans were randomly divided into saline group,hematoporphyrin monomethyl ether (HMME)-PDT group,simple laser group,simple photosensitizer group and sodium fluoride group,with eight rats in each group.The molars of rats in the saline group were smear repeatedly for 5 minutes with cotton balls containing 150 μL normal saline.The molars of rats in HMME-PDT group were incubated for 5 minutes without light by placing the cotton balls containing 150 μL HMME (40 mg · L-1) on the tooth surface,then molars were irradiated vertically by 532 nm semiconductor laser,the power density was 140 mW · cm-2,the irradiation time was 90 s,and the energy density was 12.6 J · cm-2.The molars of rats in the simple laser group were irradiated vertically by 532 nm semiconductor laser;the irradiation time,power density and energy density were the same as those in HMME-PDT group;but the molars were not treated with HMME.The molars of rats in the simple photosensitizer group were smear repeatedly for 5 minutes with cotton balls containing 150 μL HMME (40 mg · L-1),but the molars were not irradiated by laser.The molars of rats in the sodium fluoride group were smear repeatedly for 5 minutes with cotton balls containing 150 μL fluorinse (2 g · L-1).The rats in each group were treated once a week for 4 weeks.Streptococcus mutans were collected from oral cavity of rats after each treatment,and bacterial inhibition was recorded by plate count.The rats were killed after 4 weeks,and the Keyes caries score was recorded.The surface morphology of the teeth was observed by scanning electron microscope.Results The time factor had no effect on the growth of oral Streptococcus mutans (F =0.11,P > 0.05),the treatment factor had effect on the growth of oral Streptococcus mutans (F =230.89,P < 0.05),and there was interaction effect between treatment factor and time factor (F =6.36,P < 0.05).The colony number of Streptococcus mutans in HMME-PDT group and sodium fluoride group was lower than that in saline group,photosensitizer group and simple laser group at the first,second,third and fourth week after treatment (P < 0.05).The colony number of Streptococcus mutans in HMME-PDT group was lower than that in sodium fluoride group at the first,second and third week after treatment (P < 0.05).The Dx caries lesion of smooth surface caries wasn't found in each group.The Dm caries lesion of smooth surface caries wasn't found in the HMME-PDT group and sodium fluoride group.The Keyes scores of E and Ds caries lesion of smooth surface caries in the HMME-PDT group and sodium fluoride group was lower than that in the saline group,simple photosensitizer group and simple laser group(P <0.05),but there was no significant difference in the Keyes scores of E and Ds caries lesion of smooth surface caries between the HMME-PDT group and sodium fluoride group(P >0.05).The Dx caries lesion of pit and fissure caries was found in the saline group only.The Keyes score of E,Ds and Dm caries lesion of pit and fissure caries in the HMME-PDT group and sodium fluoride group was lower than that in the saline group,simple photosensitizer group and simple laser group (P < 0.05),but there was no significant difference in the Keyes scores of E,Ds and Dm caries lesion of pit and fissure caries between the HMME-PDT group and sodium fluoride group(P > 0.05).The results of scanning electron microscopy showed that the enamel surface was rough,uneven and there was a large number of scratch in the saline group and simple photosensitizer group.Relatively the enamel surface in the simple laser group was smooth,and there was a small circular scallops and dents was found in the structure;in the sodium fluoride group,the enamel surface was relatively smooth,take off the mining area was less,and remineralization was found.In the HMME-PDT group,the enamel surface was smooth,pitting was reduced and take off the mining area was small.Conclusion HMME-PDT had significant inhibitive efficacy on caries development in rats by reducing the number of cariogenic bacteria and improving the structure of the teeth.

20.
Chinese Journal of Contemporary Pediatrics ; (12): 214-217, 2018.
Article in Chinese | WPRIM | ID: wpr-300361

ABSTRACT

<p><b>OBJECTIVE</b>To study the difference in expression of TOPK/PBK in lymph nodes between children with malignant lymphoma and those with reactive lymphoid hyperplasia.</p><p><b>METHODS</b>Eighty children with malignant lymphoma and twenty children with reactive lymphoid hyperplasia were enrolled as subjects. Immunohistochemistry was used to determine the expression of TOPK/PBK in all the subjects. The expression of TOPK/PBK was compared between the two groups.</p><p><b>RESULTS</b>The TOPK/PBK-positivity rate was significantly higher in children with malignant lymphoma than in those with reactive lymphoid hyperplasia (P<0.05). There was no significant difference in the TOPK/PBK-positivity rate between the children with Hodgkin's lymphoma and non-Hodgkin's lymphoma (NHL). There were significant differences in the TOPK/PBK-positivity rate among children with different pathological types of NHL (P<0.05): the children with lymphoblastic lymphoma showed the highest TOPK/PBK-positivity rate and those with mature B-cell lymphoma and mature T/NK-cell lymphoma had a similar TOPK/PBK-positivity rate.</p><p><b>CONCLUSIONS</b>The expression of TOPK/PBK is up-regulated in the lymph nodes of children with malignant lymphoma. The expression level of TOPK/PBK may be related to the pathological type of NHL.</p>


Subject(s)
Adolescent , Child , Child, Preschool , Humans , Infant , Infant, Newborn , Lymph Nodes , Lymphoma , Mitogen-Activated Protein Kinase Kinases , Pseudolymphoma
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