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1.
Article in Chinese | WPRIM | ID: wpr-879585

ABSTRACT

OBJECTIVE@#To explore the clinical and genetic characteristics of a child with frontometaphyseal dysplasia 1 (FMD1) due to variant of FLNA gene.@*METHODS@#Clinical phenotype of the patient was analyzed. Whole exome sequencing (WES) was carried out to detect pathogenic genetic variants. Sanger sequencing was used to verify the result in his parents.@*RESULTS@#The 2-year-and-9-month-old boy presented with facial dysmorphism (supraorbital hyperostosis, down-slanting palpebral fissure and ocular hypertelorism), skeletal deformities (bowed lower limbs, right genu valgum, left genu varus, slight deformity of index and middle fingers, and flexion contracture of little fingers). He also had limited left elbow movement. High-throughput sequencing revealed that he has carried a de novo heterogeneous c.3527G>A (p.Gly1176Glu) missense variant of the FLNA gene. The same variant was found in neither parent.@*CONCLUSION@#The clinical manifestations of FMD1 such as joint contracture and bone dysplasia can occur in infancy and deteriorate with age, and require long-term follow-up and treatment. Above finding has expanded the spectrum of FLNA gene variants.


Subject(s)
Child , Filamins/genetics , Forehead/abnormalities , Humans , Infant , Male , Osteochondrodysplasias/genetics , Phenotype , Whole Exome Sequencing
2.
Article in Chinese | WPRIM | ID: wpr-879534

ABSTRACT

OBJECTIVE@#To explore the genetic basis for 7 patients with Alström syndrome.@*METHODS@#DNA was extracted from peripheral blood samples of the patients and their parents. Whole exome sequencing was carried out for the patients. Suspected variant was verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#Genetic testing revealed 12 variants of the ALMS1 gene among the 7 patients, including 7 nonsense and 5 frameshift variants, which included c.5418delC (p.Tyr1807Thrfs*23), c.10549C>T (p.Gln3517*), c.9145dupC (p.Thr3049Asnfs*12), c.10819C>T (p.Arg3607*), c.5701_5704delGAGA (p.Glu1901Argfs*18), c.9154_9155delCT (p.Cys3053Serfs*9), c.9460delG (p.Val3154*), c.9379C>T (p.Gln3127*), c.12115C>T (p.Gln4039*), c.1468dupA (p.Thr490Asnfs*15), c.10825C>T (p.Arg3609*) and c.3902C>A (p.Ser1301*). Among these, c.9154_ 9155delCT, c.9460delG, c.9379C>T, and c.1468dupA were unreported previously. Based on the standards and guidelines of American College of Medical Genetics and Genomics, the c.9379C>T and c.12115C>T variants of the ALMS1 gene were predicted to be likely pathogenic (PVS1+PM2), whilst the other 10 variants were predicted to be pathogenic (PVS1+ PM2+ PP3+PP4).@*CONCLUSION@#ALMS1 variants probably underlay the Alström syndrome in the 7 patients, and genetic testing can provide a basis for the clinical diagnosis of this syndrome. The discovery of four novel variants has expanded the mutational spectrum of Alström syndrome.


Subject(s)
Alstrom Syndrome/genetics , Cell Cycle Proteins/genetics , Humans , Mutation , Pedigree , Whole Exome Sequencing
3.
Article in Chinese | WPRIM | ID: wpr-879406

ABSTRACT

OBJECTIVE@#To investigate the clinical effect of high tibial osteotomy combined with arthroscopic lateral retinacular release in the treatment of knee varus osteoarthritis.@*METHODS@#From October 2017 to April 2019, a retrospective analysis was performed on 43 patients with knee varus osteoarthritis and lateral patellar compression syndrome treated by high tibial osteotomy combined with arthroscopic lateral retinacular release. There were 15 males and 28 females, aged 53 to 72(62.05±5.17) years. The visual analogue scale(VAS), Lysholm, and the knee range of motion were used to evaluate knee pain and functional recovery before operation, 2 weeks, 3 months and 12 months after operation. And the congruence angle (CA), patellar tilt angle (PTA), and femala-tibial angle (FTA) were measured respectively before and 12 months after operation to evaluate the congruence of patellar joint, and the improvement of line of gravity of lower limb.@*RESULTS@#All 43 patients were followed up for more than 12 months, with a follow-up time of 14 to 28 (19.60±4.50) months. The VAS scores decreased from 6.65±0.65 before operation to 2.16±0.95, 0.51±0.77 and 0.33±0.64 at 2 weeks, 3 months and 12 months after operation, and the difference was statistically significant (@*CONCLUSION@#High tibial osteotomy combined with arthroscopic lateral retinacular release can relieve weight-bearing pain in frontal axis and improve the function of knee in sagittal axis.


Subject(s)
Aged , Female , Humans , Knee Joint/surgery , Male , Middle Aged , Osteoarthritis, Knee/surgery , Osteotomy , Patella , Retrospective Studies , Tibia/surgery , Treatment Outcome
4.
Article in Chinese | WPRIM | ID: wpr-879395

ABSTRACT

Femorotibial mechanical axis (FTMA) is one of important factors influencing clinical effect after total knee arthroplasty (TKA). It is generally believed that the range of lower limb alignment after TKA is controlled within neutral FTMA ± 3 °, which has more advantages in improving joint function, prolonging prosthesis survival rate and reducing revision rate, and obtain better clinical results. Therefore, neutral FTMA is also considered to be the gold standard for TKA. However, with the application of computer-assisted surgery and other technologies, the alignment of FTMA is more accurate than before, but the clinical effect after surgery has not significantly improved. Some scholars have begun to question the necessity of neutral alignment of FTMA, and proposed alignment methods such as kinematics and retained residual deformity, which could achieve better clinical effects. In recent years, it has been reported that FTMA might not be the most important factor influencing postoperative clinical effects, and it is suggested that the arrangement and measurement of lower limbs and the effects on adjacent joint functions could affect clinical effect after TKA. The paper reviews neutral FTMA alignment is still an important factor for success of TKA. After a thorough evaluation according to the patient's condition, it should be appropriately applied in the case of neutral FTMA alignment; the operator should explore other factors which affect clinical outcome after TKA, and improve it to achieve the best therapeutic effect.


Subject(s)
Arthroplasty, Replacement, Knee , Biomechanical Phenomena , Humans , Knee Joint/surgery , Knee Prosthesis , Lower Extremity , Osteoarthritis, Knee/surgery , Prosthesis Failure , Surgery, Computer-Assisted
5.
Article in Chinese | WPRIM | ID: wpr-878907

ABSTRACT

Berberine is the main extract of Coptis chinensis, and its anti-inflammatory, antioxidant, antibacterial and immunomodulatory effects have been confirmed by modern studies. Ulcerative colitis(UC) is a chronic, idiopathic inflammatory bowel disease with unknown etiology. Its causes involve genetics, intestinal microecology and mucosal immune system disorders. In this paper, literatures on relevant pathways and mechanism of berberine on ulcerative colitis in recent years were consulted and summarized to provide me-thods and ideas for developing berberine in the treatment of UC and exploring the mechanisms. The results showed that berberine protects the intestinal mucosal barrier, restores the body's normal immune response, and improves oxidative stress by regulating multiple signaling pathways, such as JAK-STAT, NK-κB, PI3 K-AKT, MAPK, Nrf2, ERS, and MLCK-MLC, so as to treat UC.


Subject(s)
Berberine/pharmacology , Colitis , Colitis, Ulcerative/genetics , Humans , Intestinal Mucosa , Signal Transduction
6.
Article in Chinese | WPRIM | ID: wpr-885118

ABSTRACT

The clinical data of a case of diabetic ketoacidosis with FOXP3 mutation identified by genetic test were collected and summarized. The follow-up results and clinical characteristics of 18 months after hematopoietic stem cell transplantation were analyzed. The male patient was 3 years and 5 months old. At the age of 5 months, the patient was diagnosed as diabetic ketoacidosis due to mental malaise and vomiting, followed by severe diarrhea, repeated eczema, and nephrotic syndrome, which was confirmed as IPEX syndrome due to FOXP3 gene mutation by genetic test. In August 2018, hematopoietic stem cell transplantation was carried out in the Hematology Department of our hospital. During 18 months of follow-up, the patients′ autoimmune status was ameliorated, no new autoimmune diseases appeared, the blood glucose control was significantly improved, and the insulin dosage was significantly reduced.

7.
Chinese Journal of Orthopaedics ; (12): 436-441, 2021.
Article in Chinese | WPRIM | ID: wpr-884731

ABSTRACT

Osteonecrosis is the most common disorder in femoral head and scaphoid. However, avascular necrosis (AVN) in metacarpal head is a rare disease. In the present study, a 14-year-old male patient complained of right-hand pain with a limited range of motion for one month. Physical examination showed that the active flexion was 70° and the extension was limited to 30° of the metacarpophalangeal (MCP) joints. The grip strength decreased to 60% of the contralateral hand. X-rays demonstrated flattening and sclerotic changes in the long finger and ring finger of metacarpal head. CT scanning indicated cystic, osteochondral defects and sclerotic changes in metacarpal head. Imaging examination further confirmed the diagnosis of AVN in the long metacarpal finger and ring finger. After conservative treatments including splint immobilization, non-steroidal anti-inflammatory drugs (NSAIDs) and physiotherapy, the local pain symptoms of the MCP joint gradually disappeared. The range of motion of MCP joint returned to normal with the grip strength score as 105% of the contralateral hand. MRI confirmed excellent remodeling and regeneration in the metacarpal head at two years later. The clinical characteristics, diagnosis and treatments of AVN of metacarpal head were reviewed. Although radiograph examination is commonly used, early-stage osteonecrosis of the metacarpal head should be confirmed by MRI. Given the rarity of this disorder, there is no consensus on the treatments. Metacarpal necrosis is the more common disorder in adolescent patients with a history of trauma. Considering the potential of bone remodeling, juveniles with metacarpal head necrosis could recover by conservative treatments.

8.
Article in Chinese | WPRIM | ID: wpr-884641

ABSTRACT

Objective:To study the combined use of endoscopic balloon dilation with endoscopic biliary brushings in diagnosis of bile duct strictures.Methods:A prospective single center study was conducted at the Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology. All patients with suspected malignant bile duct strictures shown on CT or MRI imaging from January 2018 to January 2020 were reviewed. All patients gave informed consent to the endascopic retrograde cholangiopancreatography procedures. Their clinical and follow-up data were analyzed. All patients underwent endoscopic balloon dilation of bile duct strictures. Before and after balloon dilation, biliary brush cytology was performed, and the results were used to classify the patients into the control group and the experimental group. Pathological examination of the brush cytology samples was carried out by a single chief pathologist. Presence of cancer cells or significant heterogeneous cells indicated a positive brush cytology test. Negative patients who still highly consider cholangiocarcinoma and agree to surgery and whose gross specimen is confirmed to be malignant after surgery should be considered as false negative by brush examination; it is difficult to judge that patients with cholangiocarcinoma have progress after 2 months of follow-up should be considered as false negative by brush examination. Any progression of disease indicated that the brush test was wrong and the test was again classified as false negative. Only when there was no progression of strictures was the possibility of a benign biliary stricture being considered. The advantage test (McNemar test) was used to analyze the difference between the two diagnostic methods.Results:Of 39 patients who were included in this study, there were 26 males and 13 females, with an age of (68.0 ± 5.2) years. Cholangiocarcinoma was diagnosed by histopathology, surgery or at 2 months follow-up in 35 patients. In the control group, 17 patients had a positive brush test (sensitivity rate was 48.6%, 17/35). In the experimental group, 26 patients had a positive brush test (sensitivity rate was 74.2%, 26/35). In addition, 2 patients in the control group had a positive brush test, while in the experimental group, a negative brush test. A total of 28 patients were positive in the two groups. The sensitivity rate of the brush test was 80.0% (28/35). There were significant differences between the two groups ( P<0.05). Conclusion:Endoscopic balloon dilation combined with endoscopic biliary brushings improved the sensitivity of pathological diagnosis of cholangiocarcinoma, and endoscopic biliary brushings before and after balloon dilation improved the sensitivity of diagnosis.

9.
Article in Chinese | WPRIM | ID: wpr-884484

ABSTRACT

Objective:To analyze the levels of individual doses to radiation workers receiving medical radiation exposure in hospitals in Jiangxi province, so as to provide reference for radiation protection.Methods:The radiation workers of different types in medical institutions in Jiangxi were investigated from 2014 to 2018, involving diagnostic radiology, radiotherapy, nuclear medicine and interventional radiology. Statistical analyses were made of the individual doses to medical radiation workers in the province.Results:The total number of monitored workers were 23 833 with average annual individual effective dose of 0.316 mSv. NR1 and NR5, the ratios of the number of workers receiving annual individual doses exceeding 1 and 5 mSv to the total monitored workers were 4.32% and 0.10%, respectively. During the five-year period, the average annual individual effective dose showed a upward and then downward trend, with peak appearing in 2017. A total of 17 909 diagnostic radiologists were monitored, accounting for 75.14% of the total number of monitored workers. The average annual individual effective dose received by workers was 0.329 mSv, the highest, in interventional radiology, followed by diagnostic radiology 0.318 mSv, nuclear medicine 0.283 mSv, and radiotherapy 0.269 mSv, respectively. There were statistically significant differences among radiation workers of different types ( χ2=489.39, P<0.001). Conclusions:The average annual individual effective dose to the radiation workers in medical institutions in Jiangxi province meets the relevant national standards, but with an upward trend in nuclear medicine. The higher levels of individual doses to radiation workers are seen in primary and secondary hospitals. It should be strengthen the oversight of radiation workers in nuclear medicine and in primary and secondary hospitals.

10.
Article in Chinese | WPRIM | ID: wpr-884288

ABSTRACT

Objective:To investigate the relationship between epicardial adipose tissue (EAT) thickness and left ventricular geometry in patients with obstructive sleep apnea syndrome (OSAS).Methods:Two hundred and twenty-one OSAS patients were enrolled consecutively from the First Hospital of Shanxi Medical University from January to December 2019. According to left ventricular mass index (LVMI) and relative wall thickness (RWT), OSAS patients were divided into 4 groups based on the left ventricular geometry: 110 with normal geometry (NG group), 56 with concentric remodeling (CR group), 32 with concentric hypertrophy (CH group), and 23 with eccentric hypertrophy (EH group). The patients were examineel by echocardiography, the left ventricular end diastolic diameter, LVMI, interventricular septal thickness, left ventricular posterior wall thickness, left ventricle ejcetion fraction, E/A were collected. Age, systolic blood pressure (SBP), diastolic blood pressure (DBP), apnea hypopnea index (AHI), nocturnal lowest oxygen saturation (Lowest-SaO 2), nocturnal mean oxygen saturation (Mean-SaO 2), the percentage of the time that oxygen desaturation below 90%(T90), oxygen desaturation index(ODI), triglyceride (TG), total cholesterol (TC), EAT thickness and the echocardiography parameters were compared among the four groups. The relationships between EAT thickness and the above-mentioned parameters and left ventricular geometry were analyzed by univariate and multivariate linear regressions. Results:①The higher EAT thickness was found in the CH group [(0.50±0.09)cm] and EH group [(0.46±0.07)cm] compared with the NG group [(0.33±0.11)cm] and CR group [(0.36±0.15)cm] (all P<0.05). In addition, age, SBP, DBP, AHI, ODI, T90, LVMI, RWT and E/A ratio were all significantly different among the groups (all P<0.05). ②Univariate linear regression analysis showed that EAT thickness was positively correlated with age, SBP, DBP, AHI, TG, TC and LVMI, RWT, left ventricular geometry, and negatively correlated with Mean-SaO 2 and Lowest-SaO 2. ③Multivariate linear regression analysis showed that EAT thickness was independently correlated with AHI, TG, TC and left ventricular geometry. Conclusions:EAT is independently related to abnormal left ventricular geometry, suggesting that EAT may be involved in the process of left ventricular remodeling.

11.
Journal of Chinese Physician ; (12): 563-567, 2021.
Article in Chinese | WPRIM | ID: wpr-884091

ABSTRACT

Objective:To discuss the computed tomography (CT) and magnetic resonance (MR) imaging features of primary adrenal cortical carcinoma (PACC) and improve the imaging diagnostic level of primary adrenocortical carcinoma.Methods:The imaging features of 15 patients with biopsy or pathology confirmed PACC were retrospectively analiezed. There were 12 patients underwent CT examination, 7 patients underwent MR examination, and 4 patients underwent CT and MR exminations.Results:All of 15 PACCs were unilateral (10 on the right, 5 on the left). The maximum diameters of the lesions ranged from 4.4 to 15.1 (8.9±3.3)cm. The shape of the tumor was oval in 6 cases and irregular in 9 cases. CT findings: 1 cases showed homogeneous density and 11 cases were heterogeneous attenuation (including 2 cases with hemorrhage and 1 case with fat) on plain scan. The CT values of triple-phase of PACC ranged from 28.8 to 62.0(39.2±8.5)HU, 32.7 to 83.4(52.5±14.4)HU and 43.4 to 86.4(61.1±15.0)HU respectively. All cases showed mild (7 cases) and moderate (4 cases) gradual enhancement, only one case excluded. MRI findings: inhomogeneous mild and moderate enhancement were detected in 6 cases and homogeneneous enhancement was found in 1 case. The solid parts of PACC showed iso-signal intensity in T1WI, hyper-signal intensity in T2WI and diffusion limited in the diffusion weighted imaging (DWI). There were 14 cases of vascular shadow in 15 patients, and 3 cases of involvement and metastasis of surrounding tissues and organs.Conclusions:PACC often present as a big solitary heterogenous mass with necrotic area, hemorrhage and intratumoral vascular. The mild to moderate heterogenous gradual enhancement can be seen after the contrast.

12.
Journal of Chinese Physician ; (12): 338-342, 2021.
Article in Chinese | WPRIM | ID: wpr-884052

ABSTRACT

Objective:To analyze the incidence and risk factors of non-acute symptomatic portal vein thrombosis (PVT) after endoscopic gastric variceal injection (GVI) in the treatment of liver cirrhosis with gastric variceal bleeding (GVB).Methods:66 patients with GVB who were treated with GVI for the first time from July 2017 to October 2019 in Minhang Hospital Affiliated to Fudan University were retrospectively analyzed. The data of gender, age, preoperative Child-Pugh grade, preoperative platelet count, preoperative plasma D-dimer concentration, preoperative splenic length, preoperative portal vein velocity, preoperative splenic vein velocity, preoperative portal vein diameter, preoperative splenic vein diameter, treatment times, total number of injection points, total dose of sclerosing agent and tissue adhesive agent were collected. The patients were divided into PVT group and non-PVT group according to the occurrence of non-acute symptomatic PVT within one year after GVI. Univariate analysis was performed first, and then the factors with P<0.2 were included in the binary logistic regression model to screen the risk factors of PVT after GVI. Results:There were 25 cases (37.88%) in PVT group and 41 cases (62.12%) in non-PVT group. There were significant differences in D-dimer concentration, spleen length, Child-Pugh grade and total dose of sclerosing agent between the two groups ( P<0.05). The D-dimer concentration ( OR=2.319, 95% CI:1.359-3.956), spleen length ( OR=1.044, 95% CI:1.007-1.081) and total dose of sclerosing agent ( OR=1.075, 95% CI:1.004-1.152) were independent risk factors for PVT ( P<0.05). Conclusions:Preoperative D-dimer concentration, spleen length and total dose of sclerosing agent can predict the risk of PVT after GVI. In order to reduce the risk of PVT after GVI, the dose of sclerosing agent should be reduced as much as possible.

13.
Chinese Journal of Endemiology ; (12): 268-272, 2021.
Article in Chinese | WPRIM | ID: wpr-883707

ABSTRACT

Objective:Through determination of urinary arsenic metabolites in high water arsenic exposed areas of Jilin and Shanxi provinces, to explore the mode and possible influencing factors of arsenic metabolism in different populations.Methods:From October 2018 to August 2019, a cluster sampling was carried out in villages (arsenic in drinking water ≥0.05 mg/L) of some townships (towns) in Lyuliang City, Shanxi Province and Baicheng City, Jilin Province for epidemiological investigation and general health examination. The residents over 35 years old drinking water from local centralized water supply and small well water sources were selected as arsenic exposure group, and people (nearby low-arsenic water source areas) with the same diet and living habits and similar economic conditions were selected as control group. Urine samples were collected. Liquid chromatography-atomic fluorescence spectrometry(LC-AFS) technology was used to separate and detect 4 species of arsenic compounds, including trivalent inorganic arsenic (iAs Ⅲ), pentavalent inorganic arsenic (iAs Ⅴ), methylated arsine (MMA), and dimethylated arsine (DMA). Total arsenic (tAs), inorganic arsenic percentage (iAs%), MMA percentage (MMA%), DMA percentage (DMA%), primary methylation index (PMI) and the secondary methylation index (SMI) were calculated. The influencing factors of arsenic metabolism were analyzed by multiple linear regression. Results:A total of 1 415 villagers were investigated, including 1 256 in arsenic exposure group and 159 in control group. Compared with the control group, there were no significant differences in age, gender ratio and occupation distribution between arsenic exposure group and control group ( P > 0.05), but there were significant differences in smoking, drinking, body mass index (BMI) and education level distribution ( P < 0.05). The median of urinary tAs, iAs%, MMA%, DMA%, PMI and SMI in control group and arsenic exposure group were 12.86 μg/L, 15.03, 5.23, 76.35, 84.97, 93.68 and 69.68 μg/L, 10.24, 8.37, 79.31, 89.76, 90.65, respectively, the levels of urinary tAs, DMA% and PMI in arsenic exposed group were higher than those in control group, while iAs% and SMI were lower than those in control group, the differences were statistically significant ( U=- 13.87, - 4.30, - 6.64, - 6.64, - 1.99, P < 0.05). After analysis of the factors influencing urinary arsenic metabolism in the population, we found that age and BMI had an impact on iAs% ( β=- 0.08, - 0.08, P < 0.05); gender, drinking, BMI and education level were influencing factors of MMA% ( β =- 0.11, - 0.09, - 0.07, 0.08, P < 0.05); DMA% was mainly affected by age, gender, BMI and education level ( β = 0.06, 0.09, 0.10, - 0.09, P < 0.05); PMI was mainly affected by age and BMI ( β = 0.08, 0.08, P < 0.05); while SMI was affected by gender, drinking, BMI and education level ( β=0.09, 0.08, 0.08, - 0.09, P < 0.05). Conclusions:The urinary arsenic metabolism models of different arsenic exposed groups are different. Age, gender, smoking, drinking, BMI and education level may be influencing factors of different arsenic metabolism models.

14.
Article in Chinese | WPRIM | ID: wpr-883522

ABSTRACT

Objective:To investigate the clinical features and prognosis of patients with pancreatic metastasis from clear cell renal cell carcinoma(CCRCC).Methods:From Jan 2000 to May 2020, the clinical data of patients pathologically diagnosed as CCRCC with pancreatic metastasis and admitted in Cancer Institute and Hospital of Tianjin Medical University were analyzed retrospectively. The gender, age, metastasis time, relapse time, metastatic sites, numbers of metastatic lesions and whether metastatic pancreatic lesions should be surgerically removed were recorded and the influencing factors were analyzed.Results:Among the 20 patients, there were 12 males and 8 females. The median age of diagnosis was 50 years. There were 12 patients(60%) of left renal carcinoma and 8 patients(40%)of the other side. 12 cases(60%) had single pancreatic metastatic lesion and the other 8 cases(40%) had multiple metastatic lesions. Seven patients(35%) had other organs metastasis besides pancreatic metastasis. Two patients(10%) had simultaneous pancreatic metastasis and renal cancer, and the other eighteen patients(90%) had pancreatic metachronous metastasis after being diagnosed as renal cancer. The median time from the diagnosis of CCRCC to pancreatic metastasis was 102 months. Thirteen patients(65%)had recurrences within 10 years and the other seven patients(35%)had recurrences after 10 years. Pancreatectomy was performed in nine patients(45%) and targeted therapy was conducted in thirteen patients. The mean follow-up was 122.9 months (1-256 months). Three patients (15%) died and 17 patients (85%) survived. The median overall survival was 75.9 months, and the 5 year-survival rate was 66.7%. Simultaneous metastasis and extra-pancreatic metastasis were prognostic factors in patients with CCRCC with pancreatic metastasis.Conclusions:Pancreatic metastases from renal clear cell carcinoma were rare, but the prognosis was good, especially in patients with only pancreatic metastases several years after renal carcinoma was diagnosed.

15.
Article in Chinese | WPRIM | ID: wpr-882793

ABSTRACT

Griscelli syndrome type Ⅱ (GS2) is a rare disease, and patients with GS2 are susceptible to secondary haemophagocytic lymphohistiocytosis (HLH). GS2 accompanied by secondary HLH has a dangerous clinical course, high mortality, and a high miss-diagnosis rate.In this paper, the pathogenesis and prognosis of a case confirmed as GS2 with secondary HLH by gene screening were reported, so as to improve diagnosis and treatment of this disease.The patient had clinical manifestations of silver hair and eye lashes, recurrent pulmonary infection, contiuning high fever, significantly increased ferroprotein levels and decreased fibrinogen levels.Besides, RAB27A gene homozygous mutations were found in the patient, originating from her parents (p.P126Qf3*3 frameshift mutation). This finding confirmed the diagnosis of GS2.The patient underwent transplantation of marrow stem cells from her father since the father-daughter HLA was 7/10.The follow-up results showed that the patient was still alive and healthy 2 years after transplantation.

16.
Article in Chinese | WPRIM | ID: wpr-882405

ABSTRACT

The most effective treatment for acute ischemic stroke is intravenous thrombolysis and endovascular treatment. The proportion of patients with acute ischemic stroke receiving intravenous thrombolysis and endovascular treatment in China is low, and pre-hospital delay is an important reason. This article reviews the influencing factors and intervention measures of pre-hospital delay.

17.
China Occupational Medicine ; (6): 12-18, 2021.
Article in Chinese | WPRIM | ID: wpr-881963

ABSTRACT

OBJECTIVE: To analyze the prevalence and influencing factors of work-related musculoskeletal disorders(WMSDs) in civil aviation flight attendants. METHODS: A total of 810 flight attendants from three civil aviation airlines in China were selected as research subjects using the convenient sampling method. The revised Musculoskeletal Disorders Investigating Questionnaire was used to investigate the prevalence of WMSDs in various parts of the body in the past year. RESULTS: The total prevalence of WMSDs in flight attendants in this survey was 64.4%(522/810). The prevalence of WMSDs in various parts of the body from high to low was: neck(48.0%), shoulder(38.6%), lower back/waist(26.0%), upper back(19.8%), feet(15.1%), knee(14.0%), hip and leg(11.0%), hand and wrist(9.0%) and elbow(5.1%). The results of multivariate logistic regression analysis showed that working with an uncomfortable posture and the shortage of staff in the work sector were risk factors for neck WMSDs(all P<0.05). The protective factors were sufficient rest time and voluntary decision when to take a break during work(all P<0.05). Carrying heavy objects >20 kg, working in uncomfortable posture and shortage of staff were risk factors for shoulder WMSDs(all P<0.05). Working in uncomfortable posture and repeated an operation every minute were risk factors for lower back/waist WMSDs(all P<0.05), and sufficient rest time was its protective factor(P<0.05). CONCLUSION: The prevalence of WMSDs in civil aviation flight attendants is high, and the neck, shoulder and ower back/waist are the most commonly affected part of the body. The main influencing factors are poor ergonomics and work organization.

18.
Article in Chinese | WPRIM | ID: wpr-880084

ABSTRACT

OBJECTIVE@#To analyze the clinical characteristics and treatment effects of children with acute megakaryoblastic leukemia without down syndrome (non-DS-AMKL).@*METHODS@#The clinical data of 19 children with non-DS-AMKL treated in the Pediatric Hematology Ward in Sun Yat-sen Memorial Hospital of Sun Yat-sen University from May 2008 to April 2018 were analyzed retrospectively. The clinical characteristics, laboratory test and treatment methods of the children were concluded. All patients were followed up to evaluate the effect of treatment.@*RESULTS@#The 19 cases of children included nine male and ten female, the median age of onset was 2 years old. The clinical manifestations showed nonspecific. The median white blood cell of peripheral blood was 15.88×10@*CONCLUSION@#Non-DS-AMKL was rare in children and difficult to be diagnosed. Determination of MICM classification as early as possible was helpful for diagnosis, and genetic testing played an important role for diagnosis and prognosis evaluation. Early hematopoietic stem cell transplantation in patients with CR after chemotherapy might be an effective way to cure AMKL.


Subject(s)
Child , Child, Preschool , DEAD-box RNA Helicases , DNA Helicases , Down Syndrome , Female , Humans , Leukemia, Megakaryoblastic, Acute/genetics , Male , Prognosis , Retrospective Studies , Trisomy
19.
Article in Chinese | WPRIM | ID: wpr-862795

ABSTRACT

Objective:To explore the effect of high mobility group box-1 protein (HMGB1) on the balance of Th17/Treg in patients with immune thrombocytopenia (ITP).Methods:A total of 30 patients who were first diagnosed as ITP in the Fifth People's Hospital of Datong from July 2017 to April 2018 were selected as the case group, and another 30 healthy volunteers in the corresponding period were taken as the control group. The proportion of Th17 and Treg cells was detected by using flow cytometry, and the concentration of HMGB1, interleukin (IL)-17 and transforming growth factor β (TGF-β) in plasma was tested by using enzyme-linked immunosorbent assay (ELISA). Isolated peripheral blood mononuclear cells (PBMC) were cultured in vitro. After the treatment with recombinant human HMGB1 (rhHMGB1), real-time polymerase chain reaction (RT-PCR) was applied to detect the mRNA expression changes in Treg cell transcription factor intracellular forkhead helix transcription factor 3 (Foxp3) and Th17 cell transcription factor retinoid related orphan receptor γt (RORγt). The differences of indicators in Treg cell transcription factor peripheral blood between the case group and the control group were compared, and the balance correlation between HMGB1 and Th17/Treg was analyzed.Results:Compared with the healthy control group, the proportion of Th17 cells and the expression level of HMGB1 and IL-17 in peripheral blood of ITP patients were increased (all P < 0.01), while the proportion of Treg cells and the level of TGF-β were decreased (all P < 0.01). The proportion of Th17 cells and the expression level of IL-17 and HMGB1 in peripheral blood of ITP patients were positively correlated with the concentration of HMGB1 (all P < 0.01); the proportion of Treg cells and the level of TGF-β were negatively correlated with the expression level of HMGB1 (all P < 0.01). In vitro experiments, the expression of intracellular RORγt mRNA was increased compared with the negative control group (1.50±0.24 vs. 0.93±0.22, t = 9.612, P < 0.01), and the expression of Foxp3 mRNA was decreased compared with the negative control group after the stimulation of PBMC by rhHMGB1 (0.72±0.19 vs. 1.08±0.18, t = 7.387, P < 0.01). Conclusion:The high level of HMGB1 in the peripheral blood of ITP patients induces Th17/Treg imbalance and aggravates inflammatory reactions, which may be an important cause of ITP.

20.
Journal of Medical Biomechanics ; (6): E546-E552, 2020.
Article in Chinese | WPRIM | ID: wpr-862345

ABSTRACT

Objective To quantitatively explore the influence of knife sharpness on forearm wounds in knife slash cases. Methods The finite element models of the upper limb and knives with 3 degrees of sharpness (with sharp blade, blunt blade, wide blade) were developed based on human CT images and prototype of slash knife. The slash by 3 kinds of knives on the forearm at velocity of 4 m/s and duration of 10 ms was simulated, so as to analyze changes in contact forces, wound dimensions and energy. Results During the slash by knives with sharp, blunt, wide blade, the blades reached the ulna at about 65, 85, 95 ms, respectively. The corresponding slash forces were 846, 1 064 and 1 865 N; the wound lengths were 135.64, 105.47 and 99.23 mm; the wound depths were 38.77, 27.81 and 18.74 mm. With the sharpness of blade decreasing, the wound formation was slowed, the length and depth decreased and the slash force increased. The model system for slash knife with sharp blade had obviously greater total energy and inner energy, but smaller kinetic energy, compared with slash knife with blunt blade and wide blade. Conclusions The method for quantitatively assessing wound formation in knife slash upon the forearm was developed. The research findings deepen the understanding of biomechanical mechanism of wound formation by knife slash, and provide new scientific means for forensic investigation and court trial of knife slash cases.

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