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1.
Article in Chinese | WPRIM | ID: wpr-933378

ABSTRACT

Objective:Cushing′s disease(CD) is caused by the pituitary adrenocorticotroph hormone(ACTH) secreting adenomas, leading to increased serum cortisol levels and various abnormal metabolic processes. Untreated CD is linked to high mortality, thus it is critical to elucidate its pathogenesis. This study aims to explore the pathogenesis of pituitary ACTH adenomas using whole-genome sequencing analysis.Methods:Fresh tumor tissues and peripheral blood samples were collected in 9 confirmed cases of pituitary ACTH adenomas who underwent surgery. Whole genome sequencing was then performed, followed by analysis and verification of single nucleotide mutations, copy number variation(CNV) and chromosome structure variations.Results:Somatic USP8 mutations(p.Ser718del, p. Ser718Pro, p. Pro720Arg, p. Pro720Gln) were found in 5 patients, with a rate of 55.6%; CNV of USP8 was detected in 1 patient; TP53(p.Cys135Tyr), NF1(p.Val1049Glufs*11) and KMT2C(c.3323+ 1G>A) mutations were identified in 1 patient harboring wild-type USP8. CNV analysis showed a loss of heterozygosity in multiple chromosomes in a wild-type USP8 patient. Structural variations were found in 2 with unknown significance. No germline gene mutations were detected in this study.Conclusion:Somatic USP8 mutations, increased copy number of USP8, variations of tumor-related genes such as TP53 and extensive somatic CNV all contribute to pathogenesis of CD. Chromosomal structure variations may suggest high-risk pituitary ACTH adenomas, and call for frequent follow-up and aggressive treatment.

2.
Article in Chinese | WPRIM | ID: wpr-933377

ABSTRACT

Objective:To report the clinical characteristics, diagnosis, and treatment of 2 cases of X-linked acrogigantism(X-LAG).Methods:The clinical information of two patients were retrospectively reported, and peripheral blood DNA was collected for copy number variations detection.Results:Both patients had onset at age of two, with common clinical characteristics including linear growth acceleration, mild facial coarsening, enlargement of hands and feet, increased appetite, and snoring, etc. The heights Z scores of the two patients before treatment were + 6.86 and + 6.53, respectively. Growth hormone(GH) glucose inhibition test showed that GH nadir values were over 1 ng/mL and insulin-like growth factor-Ⅰ(IGF-Ⅰ) were 586.0 ng/mL and 1 042.0 ng/mL, respectively. Patient 1 received three cycles of octreotide microspheres therapy followed by surgery, and achieved clinical and biochemical remission. Patient 2 had lanreotide for 5.5 years but failed biochemical remission. Microduplication of Xq26.3, which contained pathogenic gene G-protein coupled receptor 101(GPR101), was found in germline DNA of two patients through copy number variation detection, leading to the diagnosis of X-LAG.Conclusion:It should be cautious of X-LAG when children below 2 years old presents symptoms such as overgrowth and so on. Medication combined with surgery is effective.

3.
Article in Chinese | WPRIM | ID: wpr-933368

ABSTRACT

Bilateral inferior petrosal sinus sampling(BIPSS), with or without desmopressin stimulation, is the gold standard in the diagnosis of Cushing′s disease. A few of patients with Cushing′s disease present a false negative result in BIPSS. These patients are often misdiagnosed as ectopic adrenocorticotropin(ACTH) syndrome(EAS). Here we report a case of Cushing′s disease with a false negative BIPSS, in the hope to aid clinical physicians in the differential diagnosis and treatment of ACTH-dependent Cushing′s syndrome.

4.
Article in Chinese | WPRIM | ID: wpr-930501

ABSTRACT

Objective:To analyze clinical data of 3 children with LMX1B-associated disease characterized by asymptomatic glomerular proteinuria, thus improving the recognition of asymptomatic proteinuria with genetic causes. Methods:Three patients with LMX1B-associated disease presented with prominent asymptomatic proteinuria diagnosed by the next-generation sequencing in Department of Pediatrics, Peking University First Hospital from April 2014 to October 2017 were included in this study.Clinical data, including renal and extrarenal manifestations, renal biopsy, and family history, were collected and retrospectively analyzed. Results:All 3 children were girls, the age of onset were 2 years, 1 year, and 4 years, respectively, and the diagnosis age were 11 years, 5 years and 6 years, respectively.All of them had glomerular proteinuria, and nephrotic-level proteinuria occurred in one patient.Microscopic hematuria was found in 2 patients.All of them had normal renal function.Only one patient underwent renal biopsy.Electron microscopy of the first time of biopsy revealed segmental thinning of the glomerular basement membrane.Re-biopsy 4 years later showed irregular thickening of the glomerular basement membrane, moth-eaten appearance and collagen fibrillar material deposition.No abnormalities of nails, limbs and joints were observed by physical examination.Two patients had a family history of renal disease.Conclusions:Genetic factors should be considered in children with obscure onset asymptomatic proteinuria without definite clinical causes.Genetic testing can help diagnose and guide treatment as early as possible.

5.
Article in Chinese | WPRIM | ID: wpr-912383

ABSTRACT

Objective:To observe the effects of four prostaglandin E2 (PGE2) receptors (EP 1-4R) on the activation of inflammasomes and cell damage in human retinal microvascular endothelial cells (hRMEC) in a high glucose environment. Methods:The hRMEC were divided into normal group and high glucose group, and they were cultured in Dulbecco modified Eagle medium containing 5.5 and 30.0 mmol/L glucose, respectively. Flow cytometry was used to observe the apoptosis rate of the high glucose group and the normal group; enzyme chain immunosorbent assay (ELISA) was used to detect the level of PGE2 in the culture supernatant of hRMEC cells. Western blot was used to detect the protein expression of cyclooxyganese (COX2) and EP 1-4R in hRMEC. Real-time fluorescent quantitative polymerase chain reaction (qRT-PCR) was used to detect the expression of EP 1-4R mRNA in hRMEC. After 72 h of culture, the cells in the high glucose group were divided into control group, PGE2 group, EP 1-4R agonist group, PGE2+EP 1-4R inhibitor group, and dimethylsulfoxide group. According to the group, each group was given the corresponding agonist or inhibitor to continue the culture for 24 h. QRT-PCR was used to detect the expression of nucleotide-binding oligomerization structure-like receptor protein (NLRP3) and pro-interleukin (IL)-1β mRNA in each group of cells. ELISA was used to detect the content of IL-1β and lactic dehydrogenase (LDH) in the cell culture supernatant. Western blot was used to detect the expression of cleaved Caspase-1 in each group of cells. At the same time, hRMEC in a high glucose environment was given IL-1β stimulation for 24 h, and the activity of LDH in the supernatant of the cell culture medium was detected. Results:The apoptotic rate, COX2 protein expression, and PGE2 protein content in hRMEC in the high glucose group were significantly higher than those in the normal group, and they were time-dependent. Compared with the normal group, the expression levels of EP 1R, EP 2R, EP 4R protein and mRNA in hRMEC in the high glucose group were higher than those in the normal group ( P<0.05). Compared with the control group, PGE2 group ( t=4.627, P<0.01), EP 1-4R agonist group ( t=3.889, 3.583, 2.445, 3.216; P<0.05) hRMEC NLRP3 mRNA expression level was significantly increased; the expression level of pro-IL-1β mRNA increased, however the difference was not statistically significant (PGE2 group: t=1.807, P>0.05; EP 1-4R agonist group: t=1.807, 1.477, 0.302, 1.926, P>0.05). Compared with the PGE2 group, the expression of NLRP3 mRNA in hRMEC in the PGE2+EP 2R inhibitor group was significantly reduced ( t=2.812, P<0.05); the expression of pro-IL-1β mRNA in hRMEC in the PGE2+EP 3R inhibitor group was significantly increased ( t=4.113, P<0.01). The protein content of IL-1β in the cell culture supernatant of the PGE2 group, EP 1R agonist group and EP 2R agonist group was significantly higher than that of the control group ( t=5.155, 4.136, 4.817; P<0.01). Compared with PGE2 group, the protein content of IL-1β in the cell culture supernatant of the PGE2+EP 2R inhibitor group and the PGE2+EP 4R inhibitor group were significantly lower than that of the PGE2 group ( t=1.964, 4.765; P<0.05). The expression of cleaved Caspase-1 in hRMEC in the PGE2 group and EP 2R agonist group was significantly higher than that in the control group ( t=5.332, 4.889; P<0.05). The expression of cleaved Caspase-1 in hRMEC in the PGE2+EP 2R inhibitor group was significantly lower than that of the PGE2 group ( t=6.699, P<0.01). The LDH activity in the cell culture supernatant of the PGE2 group and the EP 2R agonist group was significantly higher than that of the control group ( t=4.908, 4.225; P<0.05). The activity of LDH in the cell culture supernatant of the PGE2+EP 2R inhibitor group was significantly lower than that of the PGE2 group ( t=5.301, P<0.01). Compared with the control group, the LDH activity in the culture supernatant of hRMEC cells in the high glucose environment was significantly increased ( t=3.499, P<0.05). Conclusions:The four receptors of PGE2 can activate NLRP3 and its effector molecules to varying degrees. EP 2R mainly mediates hRMEC damage under high glucose environment.

6.
Article in Chinese | WPRIM | ID: wpr-870111

ABSTRACT

Objective:To investigate the clinical features and pathological classification of patients with nonfunctional pituitary adenomas(NFPAs)in single medical center according to 2017 World Health Organization.Methods:The clinical and pathological characteristics of 166 patients with NFPAs diagnosed by neurosurgery in Peking Union Medical College Hospital from April 2019 to January 2020 were analyzed retrospectively.Results:In 166 patients, the ratio of male to female was almost equal(1.05∶1). Their average operation age was(49.9±12.3) years, which was significantly higher than that of functional pituitary tumor patients in the same period. Headache, visual acuity decline, and visual field defect were the most common causes for the first visit. All the maximum diameter of tumors was more than 10 mm, and 15 cases(9.0%)were giant tumors. 18 patients(10.8%)were recurrent cases. According to the results of immunohistochemistry for anterior pituitary hormones and transcriptional factors, the most common pathological type was gonadotroph adenomas(50.6%), followed by corticotroph adenomas(24.7%), plurihormonal pituitary adenomas(11.4%), PIT-1-positive adenomas(6.6%), and null cell adenomas(6.6%). Gonadotroph adenomas were more common in men(male∶female ratio=4.1∶1), while corticotroph adenomas occurred mainly in women(male∶female ratio=1∶12.7). The average age of patients with gonadotroph adenomas was the highest, while those of patients with PIT1-positive adenomas and rare combining IHC plurihormonal pituitary adenoma were significantly lower than that of the former. There were no significant differences in the mean diameters of tumors, the proportion of giant adenomas, and recurrent cases among different pathological types of tumors. However, the mean Ki-67 index of PIT-1-positive adenomas was significantly higher than those of other groups( P=0.001). Conclusion:Although the clinical manifestations of NFPAs were similar, their pathological classifications were different. Gonadotroph adenomas occurs mainly in male patients while corticotroph adenomas is more common in women. The prognosis may be different among various pathological types of NFPAs.

7.
Article in Chinese | WPRIM | ID: wpr-870082

ABSTRACT

Objective:To investigate the clinical characteristics of four McCune-Albright syndrome (MAS) patients associated with growth hormone(GH)-prolactin(PRL) pituitary adenoma, and explore more effective clinical treatment and management methods.Methods:The clinical data of four patients with MAS and GH-PRL pituitary adenoma diagnosed by Peking Union Medical College Hospital were retrospectively analyzed, including clinical manifestations, biochemical parameters, radiographic characteristics, as well as treatment and prognosis. Literature review was also conducted to analyze the efficacy of surgical operations and drug intervention.Results:Clinical characteristics: 3 females and 1 male, all of whom had onset before the age of 7 years. The types of fibrous dysplasia of bone were all polyosseous and involved craniofacial region. There were obvious gigantism/acromegaly manifestations in all cases, 3 cases had evident visual impairment and 1 case with optic chiasm compression. There was no spontaneous or triggered lactation in all 4 patients. Laboratory examination: GH and insulin-like growth factor-Ⅰ(IGF-Ⅰ) levels were significantly increased in 4 patients, GH levels were not inhibited by oral glucose tolerance test (OGTT), PRL levels were over 100 ng/ml, ALP levels were significantly increased in 4 patients, while serum calcium and phosphorus levels were remained normal. Imaging features: All pituitary adenomas in 4 patients were macroadenomas, with unilateral cavernous sinus enclosure in cases 2 and 3, and recurrence of macroadenoma with bilateral cavernous sinus enclosure in case 4 after the first operation. Four cases of skull CT showed multiple FD in craniofacial bone and skull base. Treatment and outcome: All 4 patients underwent pituitary adenoma resection and bisphosphonate therapy, and somatostatin analogues, dopamine receptor agonists and other treatments were selected according to the situation. Two patients with early diagnosis and initial treatment achieved partial remission after treatment, while the other two patients did not.Conclusions:Patients with MAS and GH-PRL pituitary adenoma had earlier onset age and were more likely to suffer from optic nerve damage. Early diagnosis and reasonable surgical treatment may help to improve biochemical indicators (GH, IGF-Ⅰ, and PRL, etc.) rapidly, and combined drug therapy (somatostatin analogues and dopamine receptor agonists) can better maintain or close to normal biochemical indicators, and ultimately improve the prognosis of patients.

8.
Article in Chinese | WPRIM | ID: wpr-869208

ABSTRACT

Objective:To investigate the application value of renal depth correction by the integrated CT in glomerular filtration rate (GFR) determination by 99Tc m-diethylene triamine pentoacetic acid (DTPA) renal dynamic imaging for patients with hydronephrosis. Methods:A total of 338 patients (191 males, 147 females, age (49.6±14.5) years) in Beijing Tsinghua Changgung Hospital from April 2016 to June 2019 with different degrees of hydronephrosis were respectively analyzed. Patients were divided into groups of normal-mild, normal-moderate, normal-heavy, mild-mild, mild-moderate, mild-heavy, moderate-moderate, moderate-heavy and heavy-heavy according to the degree of bilateral hydronephrosis. The renal depth was measured by the integrated CT method and the routine method, and the absolute value of bilateral renal depth difference in normal-mild, normal-moderate and normal-heavy groups was calculated by the 2 methods. Based on the renal depth measured by the 2 methods, the single renal GFR was measured by 99Tc m-DTPA dynamic renal imaging Gates method and compared between the 2 methods. Total GFR measured by the 2 methods were compared with estimated GFR (eGFR). One-way analysis of variance analysis, paired t test, and Pearson correlation analysis were used. Results:For the integrated CT measurements, the absolute value of bilateral renal depth difference in normal-mild, normal-moderate and normal-heavy groups were significantly different ((0.39±0.24), (1.16±0.65) and (1.00±0.90) cm; F=15.241, P<0.05). The renal depth and the single renal GFR measured by the integrated CT method were higher than those measured by the routine method ( t values: 16.06-19.78, 14.27-17.23, all P<0.05) in the kidneys with normal, mild, moderate and heavy hydronephrosis. There were significant differences between the total GFR measured by the routine method and eGFR in all groups ( t values: from -8.178 to 5.879, all P<0.05); however, in the integrated CT method, except that the total GFRs in moderate-heavy group and heavy-heavy group were overestimated ( t values: 3.035 and 11.247, both P<0.05), there were no significant differences between the total GFR ((111.57±17.37), (103.71±15.22), (79.79±12.62), (100.33±18.49), (100.28±15.43), (84.09±20.72) and (74.14±14.57) ml·min -1·1.73 m -2) and eGFR ((109.16±12.81), (103.20±13.26), (78.60±14.12), (100.98±15.20), (99.89±14.05), (84.61±20.24) and (73.44±14.57) ml·min -1·1.73 m -2) in normal-mild, normal-moderate, normal-heavy, mild-mild, mild-moderate, mild-heavy and moderate-moderate groups ( t values: from -0.301 to 1.948, all P>0.05). The total GFR measured by the 2 methods were significantly correlated with eGFR in 338 patients with hydronephrosis ( r values: 0.888 and 0.928, both P<0.01). Conclusion:Compared with the routine method, except for the moderate-heavy group and heavy-heavy group, renal depth correction by the integrated CT may have greater clinical significance in GFR measurement by renal dynamic imaging for patients with hydronephrosis.

9.
Article in Chinese | WPRIM | ID: wpr-847369

ABSTRACT

BACKGROUND: Generally, the treatment of distal radius fractures or joint dislocations is generally valued in clinical practice, but little attention is paid to the ulnar styloid fracture, and whether the ulnar styloid fracture needs to be fixed is controversial. In the study of orthopedic biomechanics, the selection of cadaver model may encounter some problems, such as different selection criteria of cadaver model and different mechanical measurement methods. OBJECTIVE: Based on Mimics software, the finite element simulation model of type Frykman VIII fracture of the distal radius fixed by plate and screw was constructed using finite element analysis. The working condition and load were set for mechanical analysis. It is hoped to provide a reference for the choice of the repair plan of this kind of fracture. METHODS: A three-dimensional finite element model of normal wrist joint was established based on the forearm and wrist CT images of a healthy volunteer. After debugging the model, Von Mises stress of the distal radius was obtained by loading the 100 N stress in the axial direction, and the validity of the model was verified by comparing with the experimental data in the literature. Two kinds of finite element models of Frykman VIII fracture with ulnar styloid type I and type II fractures were established by using finite element software to divide the mesh, cut and mold, and the model of plate and screw fixation of distal radius was assembled. Setting load under rotating working conditions, we analyzed the changes of the stress distribution of the steel plate unit in two models, and the relative displacement of the distal radioulnar joint as well as the ulnar styloid fracture broken end. RESULTS AND CONCLUSION: (1) A three-dimensional finite element model of normal wrist joint was established and validated, and the other two models of type Frykman VIII fracture of the distal radius with ulnar styloid type I and type II fractures fixed by plate and screw were established based on this model. (2) Under the same rotating load, this study showed that the stress and stress distribution of the steel plate unit in the steel plate fixation model of Frykman VIII fracture of the distal radius combined with ulnar styloid type I fracture were smaller than those of the fracture model combined with type II fracture of styloid process of ulna; the relative displacement values of the distal radioulnar joint and the ulnar styloid fracture broken end were smaller than the latter too. (3) The three-dimensional finite element model of wrist joint constructed in this study can be used to analyze the mechanical mechanism of wrist fracture. The results of finite element analysis showed that the fracture of styloid process of ulna in Frykman VIII fracture of the distal radius would affect the stability of the distal radioulnar joint, especially in the case of ulnar styloid type II fracture, which can provide a certain clinical reference for the selection of operation scheme of such fracture.

10.
Article in Chinese | WPRIM | ID: wpr-865357

ABSTRACT

Objective:To observe the effects of miR-146a on human retinal endothelial cell (HREC) under high glucose condition.Methods:Total of 57 cases diagnosed as diabetic mellitus and 40 cases with diabetic retinopathy (DR) in Wuxi People's Hospital Affiliated to Nanjing Medical University from October to December 2013.Forty-one healthy volunteers were enrolled and served as control group.The clinical data and venous blood samples of subjects were collected.HRECs were cultured in normal glucose (5.5 mmol/L) or high glucose medium (30 mmol/L). Real-time PCR was used to detect the expression of miR-146a.The cultured HRECs were transfected with miR-146a mimic, mimic negative control, inhibitor and inhibitor negative control by lipofectamine2000, respectively.The expression of miR-146a and intercellular cell adhesion molecule-1 (ICAM-1) mRNA was examined by real-time PCR and the expression of nuclear factor-кB (NF-кB) p65 and NF-кB p65 Ser536 was detected by Western blot assay. Results:The relative expression of miR-146a mRNA in the diabetic mellitus group and DR group was 0.36±0.08 and 0.27±0.08, respectively, which were significantly lower than 1.00±0.16 in the control group (both at P<0.01). The expression of miR-146a mRNA was 0.37±0.11 in the high glucose group, which was lower than 1.00±0.18 in the normal control group ( t=5.57, P<0.01). The relative expression of miR-146a mRNA in the miR-146a mimic group was 2 540.00±105.00, which was significantly higher than 61.00±17.90 in the miR-146a mimic control group; The relative expression of miR-146a mRNA in the miR-146a inhibitor group was 0.04±0.01, which was significantly lower than 0.88±0.04 in the miR-146a inhibitor control group ( t=23.23, 17.12; both at P<0.01). The relative expression of ICAM-1 mRNA in the miR-146a mimic group was 0.35±0.12, which was significantly lower than 1.00±0.13 in the miR-146a mimic control group; The relative expression of ICAM-1 mRNA in the miR-146a inhibitor group was 2.74±0.48, which was significantly higher than 1.00±0.16 in the miR-146a inhibitor control group ( t=3.58, 3.37; both at P<0.05). The relative expression of NF-кB p65 Ser536 in the miR-146a mimic group was 0.43±0.03, which was significantly lower than 1.07±0.09 in the miR-146a mimic control group ( t=6.74, P<0.01). The relative expression of NF-кB p65 Ser536 in the miR-146a inhibitor group was 2.08±0.12, which was significantly higher than 1.00±0.01 in the miR-146a inhibitor control group ( t=8.76; P<0.01). Conclusions:miR-146a can reduce inflammation of HREC in high glucose condition through inhibiting ICAM-1 expression and NF-кB phosphorylation.

11.
Article in Chinese | WPRIM | ID: wpr-800126

ABSTRACT

Objective@#To evaluate the efficacy and outcome of 25 gouge (25G) minimally invasive vitrectomy combined with cataract extraction and trabeculectomy surgeries for malignant glaucoma.@*Methods@#Retrospective cohort study was performed.Clinical data of 19 malignant glaucoma patients (19 eyes) who received 25G minimally vitrectomy from January 2012 to January 2017 in Wuxi People's Hospital were reviewed retrospectively.The operative methods were selected according to the predisposing cause.25G vitrectomy combined with cataract extraction and posterior capsulotomy were performed on the malignant glaucoma eyes after trabeculectomy, and 25G vitrectomy combined with cataract extraction, trabeculectomy and posterior capsulotomy were performed on the malignant glaucoma eyes after non-trabeculectomy.Best corrected visual acuity (BCVA) was examined by international visual acuity chart.The ocular axis length and intraocular pressure (IOP) were measured with A-mode ultrasonic apparatus and non-contact tonometer, respectively.The anterior chamber depth was measured with ultrasound biomicroscope (UBM). The study followed the declaration of Helsinki and all patients signed informed consent before surgery.@*Results@#The operation was successfully completed in 19 patients.All patients suffered moderate to severe anterior chamber inflammation after operation.The average age of onset in the patients was (58.00±6.20) years, and the mean ocular axial length was (20.81±0.56)mm.Malignant glaucoma occurred in 11 eyes after trabeculectomy, 2 eyes after combination of anti-glaucoma with cataract extraction, 2 eyes after laser iridotomy, 2 eyes after paracentesis of anterior chamber and 2 eyes with unknown causes.The visual acuity was significantly improved 3 months after operation in comparison with before operation (Z=-3.826, P<0.001). The mean IOP was (12.16±2.27)mmHg (1 mmHg=0.133 kPa) in postoperation, which was significantly lower than (38.84±5.97)mmHg in preoperation (t=17.68, P<0.05). The depth of anterior chamber was increased from preoperative (0.95±0.28)mm to postoperative (2.43±0.15) mm (t=20.06, P<0.05). UBM image showed that the position of ciliary body was normal without edema.@*Conclusions@#The combination procedure of 25G minimally invasive vitrectomy with relative surgery for malignant glaucoma is effective by lowing IOP, rescuing visual acuity and reducing surgical risk.

12.
China Occupational Medicine ; (6): 735-739, 2018.
Article in Chinese | WPRIM | ID: wpr-881744

ABSTRACT

OBJECTIVE: To investigate the prevalence and influencing factors of low back pain in workers in automobile manufacturing plants. METHODS: A judgment sampling method was used to select 394 workers with working length ≥1 year in an automobile manufacturing plant as study subjects. A questionnaire survey was conducted to investigate the prevalence of low back pain in these workers using the Nordic Musculoskeletal Disorders Questionnaire. RESULTS: The prevalence of low back pain in these study subjects was 28. 9%( 114/394). The multivariate logistic regression analysis results showed that the relative risk ranked from high to low is as follow: uncomfortable working posture [Odds ratio( OR) =7. 31,95% confidence interval( 95% CI) = 2. 92-18. 28],feeling tired after work( OR = 5. 34,95% CI = 1. 22-23. 32],the commu time more than 30 minutes( OR = 2. 76,95% CI = 1. 38-5. 52),insufficient operating space( OR = 2. 22,95% CI = 1. 28-3. 83),hand or arm frequently used at work( OR = 2. 08,95% CI = 1. 14-3. 78) and age( OR = 2. 00,95% CI = 1. 19-3. 35),that were all risk factors of low back pain( P < 0. 05). CONCLUSION: The frequent use of hand or arm at work,insufficient operating space,uncomfortable working posture,feeling tired after work,and long commute time are the main influencing factors affecting the low back pain of automobile manufacturing workers.

13.
Chinese Journal of Pediatrics ; (12): 662-666, 2018.
Article in Chinese | WPRIM | ID: wpr-810131

ABSTRACT

Objective@#To explore the clinical and genetic characteristics of infantile nephrotic syndrome caused by COQ2 variants.@*Methods@#The clinical and genetic data of a patient with nephrotic syndrome caused by COQ2 variants diagnosed at pediatric department of Peking University First Hospital from February 2018 to March 2018 were retrospectively analyzed. Related literature retrieved from PubMed, CNKI and Wanfang databases were searched to date (up to July 2018) with "COQ2 gene" or "primary coenzyme Q10 deficiency" and "nephrotic syndrome" or "nephropathy" as key words.@*Results@#A 14-month-old male, presented to local hospital at 11 months of age with edema and severe proteinuria, without hematuria, hypertension or renal dysfunction. He did not have infection or seizure in the course of the disease. He had no response to a more than four-week full-dose prednisone treatment. He had normal birth, mild motor development retardation and moderate language retardation. He was born to non-consanguineous healthy parents. He had two unaffected older sisters and one older sister died of "nephropathy" at one year of age. Genetic testing identified compound heterozygous variants in COQ2 gene: c.518G>A and c.973A>G, both could be predicted by in silico tools to be deleterious in protein function. These variants are not single nucleotide polymorphism and rare in normal populations. Both variants have previously been reported as pathogenic. These missense mutations were inherited from parents in autosomal recessive manner tested by Sanger sequencing. The patient was supplemented with high-dose of coenzyme Q10, at 30 mg/(kg·day) and glucocorticoid was withdrawn. Within three weeks of high dose coenzyme Q10 treatment, the edema disappeared. After seven weeks of high dose coenzyme Q10 treatment, the patient had decreased proteinuria and improved serum albumin levels. The urine protein to creatinine ratio decreased from 22.87 mg/mg to 1.98 mg/mg; Serum albumin increased from 14.2 g/L to 39.9 g/L, with normal kidney function and improved motor development. Primary CoQ10 deficiency is reported to be a rare autosomal recessive mitochondrial disorder with heterogeneous renal, neurologic, and muscular manifestations. To date, COQ2 variants have been reported in 14 children with glomerular involvement. Their age at onset ranged from neonatal period to 10-year-old (8 patients within the first year of life). Steroid resistant nephrotic syndrome (SRNS) is the most common phenotype. Some of these children also had progressing encephalopathy and myopathy, and seizures. Patients with COQ2 variants might show clinical improvement with early high-dose oral CoQ10 supplementation. Literature review revealed two Chinese articles, mainly about adults with neurologic symptoms. SRNS was previously not reported in Chinese pediatric patients.@*Conclusions@#It is necessary to carry out genetic testing for infant with SRNS. The coexistence of some degree of encephalomyopathy, such as development retardation, should raise suspicion of a mitochondrial defect caused by COQ2 variants. Timely diagnostic genetic testing and early high dose of coenzyme Q10 supplement could significantly improve their prognosis.

14.
Article in Chinese | WPRIM | ID: wpr-807449

ABSTRACT

Objective@#To investigate the prevalence and risk factors of neck and shoulder pain (NSP) among automobile manufacturing workers and to provide a theoretical basis for prevention of NSP.@*Methods@#From November 5 to November 19, 2017, a total 446 works who had worked for more than one year were recruited from an automobile plant by cluster sampling method. Chi square test and unconditional logistic regression were used to exam the relation between influencing factors and NSP.@*Results@#The annual prevalence rate of NSP was 34.8%. Multifactor regression analysis showed that age、work fatigue、department staff shortages、lifting heavy objects in awkward positions、neck flexion foreword and prolong sitting position work were the risk factors of NSP (OR=2.18, 95%CI:1.49~3.18; OR=4.52, 95%CI:1.27~16.00; OR=1.66, 95%CI:1.04~26.68; OR=2.10, 95%CI:1.16~3.81; OR=2.25, 95%CI:1.39~3.66; OR=2.42, 95%CI:1.06~5.56) and work break was the benefit factors of NSP (OR=0.58, 95%CI:0.36~0.94) .@*Conclusion@#The annual prevalence rate of NSP among automobile manufacturing workers was high. Lifing heavy objects、awkward working positions and unreasonable work arrangement were the major risk factors of NSP, and work break can effectively reduce the risk of NSP. Effective ergonomic intervention should be carried out to prevent the occurrence of NSP.

15.
Article in Chinese | WPRIM | ID: wpr-701175

ABSTRACT

AIM:To investigate the RELMα/FIZZ1 signaling pathway on the regulation of the Ca 2+/CaM sig-naling pathway in the mouse aortic smooth muscle cells MOVAS and on the formation of blood vessels in the mouse aortic endothelial cells(MAEC).METHODS:The MAEC cultured in vitro were divided into pGSadeno-HK group,pGSadeno-RELMα/FIZZ1 group,pGSadeno-shRNA control group and pGSadeno-shRNA RELMα/FIZZ1 group.MTT assay was used to detect the viability of the MAEC.The formation of stroma tubes was observed for determining angiogenesis.The MOVAS cells cultured in vitro were also divided into pGSadeno-HK group,pGSadeno-RELMα/FIZZ1 group,pGSadeno-shRNA con-trol group and pGSadeno-shRNA RELMα/FIZZ1 group.The viability of MOVAS cells was measured by MTT assay.Fluo-3 AM fluorescence probe was used to detect intracellular Ca 2+concentration.The expression of calmodulin(CaM)and my-osin light chain kinase(MLCK)at mRNA and protein levels was determined by real-time PCR and Western blot.RE-SULTS:Over-expression of RELMα/FIZZ1 significantly promoted the viability of the MAEC.The number of lumen forma-tion was increased significantly(P<0.05).Knockdown of the RELM α/FIZZ1 expression inhibited the viability and lumen formation of MAEC(P <0.05).Over-expression of RELMα/FIZZ1 significantly promoted the viability of the MOVAS cells,enhanced the mean fluorescence intensity of intracellular Ca 2+,and the expression of CaM and MLCK at mRNA and protein levels was significantly increased.Knockdown of the RELMα/FIZZ1 expression significantly inhibited the viability of the MOVAS cells,the mean fluorescence intensity of Ca 2+was decreased, the expression of CaM and MLCK at mRNA and protein levels was decreased significantly(P<0.05).CONCLUSION:RELMα/FIZZ1 signaling pathway is involved in the angiogenesis,and the mechanism may be related to the changes of intracellular Ca 2+concentration and then to regu-late the intracellular CaM and MLCK expression.

16.
Article in Chinese | WPRIM | ID: wpr-698606

ABSTRACT

BACKGROUND: Distal radius fractures are often accompanied by the ulna styloid process fractures, and the treatment of the ulna styloid process fracture is disputed in clinic. Manipulative reduction and splint fixation is a common method to treat such diseases. The mechanism of intervention on ulnar styloid process is difficult to obtain in the corpse mechanics experiments. In recent years, the finite element analysis method has been widely used in the field of orthopedics, which has opened up a way for the study of orthopedic disease. OBJECTIVE: To explore the biomechanical mechanism of splint intervention on ulnar styloid fracture by finite element analysis, and to provide the basis for clinical treatment choice. METHODS: A three-dimensional finite element model of normal wrist joint was established based on the forearm and wrist CT images of a healthy volunteer. The validity of the model was verified by comparing with the experimental data in the literature. On this basis, four wrist joint finite element models with and without splint fixation for ulnar styloid type I and type II fractures were established. Under axial compression, lateral extension, pronation and supination working conditions, the changes of the relative displacement of the distal radioulnar joint and the ulnar styloid fracture broken end were analyzed. RESULTS AND CONCLUSION: (1) A three-dimensional finite element model of normal wrist joint was established and validated, and the other four models were established based on this model. (2) In pronation and supination conditions, the relative displacement values of the ulnar and radial joints in the ulnar styloid type I and II fracture models were greater than those in the normal wrist joint model, and the displacement was smaller in the type I fracture model than in the type II fracture model; the displacement was significantly reduced after the intervention on the two fracture models by the splint. (3) In the lateral tension, pronation and supination conditions, the displacement values of the ulnar styloid fracture end in the ulnar styloid type I fracture model were smaller than in the type II fracture model, and the displacement values were significantly reduced after the intervention by the splint. Under the remaining conditions, the change of the above values was not obvious. (4) In conclusion, the stability of distal radioulnar joint became worse after ulnar styloid fracture, and the stability of distal radioulnar joint after type I fracture was less than that after type II fracture. As an elastic fixation method, splint can increase the stability of the wrist ulnar column during the treatment.

17.
Article in Chinese | WPRIM | ID: wpr-696578

ABSTRACT

Dent disease is a rare X-linked tubulopathy characterized by low molecular weight proteinuria (LMWP),hypercalciuria,nephrocalcinosis and/or nephrolithiasis,renal dysfunction and variable manifestations of other proximal tubule dysfunctions.The gene of Dent disease is now known that Dent disease Ⅰ is caused by mutations of the CLCN5 gene,coding for the ClC-5;and Dent disease Ⅱ by mutations of the OCRL gene,coding for the inositol polyphosphate 5-phosphatase OCRL-1.The pathological manifestations of Dent's kidney are often focal segmental sclerosis(FSGS),mesangial proliferative glomerulonephritis(MsPGN) and minimal change(MCD).Dent disease could progresses to chronic renal failure over 3 to 4 decades.As key point,the LMWP of Dent disease in childhood often express as nephrotic-range proteinuria with normal serum albumin,the differentiation with nephrotic syndrome in clinic.When a boy accompany with LMWP and hypercalciuria or nephrocalcinosis,he should be examined for CLCN5 and OCRL1 gene tests to avoid misdiagnosis and missed diagnosis of Dent disease.

18.
International Eye Science ; (12): 1004-1009, 2018.
Article in Chinese | WPRIM | ID: wpr-695361

ABSTRACT

· AIM:To screen congenital cataract in the early stage using dual-specific probe technique composed of DNA hybridization and chromogenic probe.· METHODS:The mRNA was isolated from venous blood of 14 congenital cataract patients with autosomal dominant inheritance in 3 chromosomes.Based on genetic mutats of CRYAB gene,DNA probe,capture probe and signal probe were designed.The sandwich structures containing capture probe,DNA probe and signal probe was used to detect genetic mutants in 8 samples from one family;and ELISA was used to detect the contents fluctuation of Crystallin alpha B.· RESULTS:The dual-specific probe technique detected the minimum genetic mutation of Crystallin alpha B in congenital cataract samples,various mutations detection rate was between 99.5% and 99.7%.In ELISA detection,serum Crystallin alpha B level increased,and detection rate was 85.9%.Compared with ELISA assay,this novel assay was more sensitive.· CONCLUSION:The novel dual-specific probe method is quite convenient for detection of genetic mutants of congenital cataract;and for its high sensitivity and repeatability,it is of great potential in clinically prenatal diagnosis,and it might play significant roles in eugenic and superior nurture.

19.
Journal of Clinical Pediatrics ; (12): 424-427, 2018.
Article in Chinese | WPRIM | ID: wpr-694697

ABSTRACT

Objective To explore the clinical features, treatment and follow-up of Cockayne syndrome with renal involvement. Method The clinical data of one child with Cockayne syndrome confirmed by gene detection with renal injury were reviewed, and the clinical features of renal involvement in Cockayne syndrome were summarized. Results A male child aged 3 years and 8 months had clinical manifestations of mental retardation, growth retardation, special face and photosensitive dermatitis, and renal involvement was manifested by nephrotic syndrome. Cranial CT showed symmetrically calcification in bilateral basal ganglia. The targeted next generation sequencing results showed homozygous mutations of c.394_398del and p.Leu132Asnfs in ERCC8 gene (NM_000082) of the child, and the same heterozygous mutation was found in both his parents (non-consanguineous marriage). After the diagnosis of nephrotic syndrome, full dose prednisone was given for experimental treatment. The urine protein decreased but did not disappear, which was considered hormone resistance. After 4 months of combined treatment with cyclosporin, the urine protein turned negative. During 20 months of follow-up, urine protein remained negative and renal function remained stable. The renal involvement in Cockayne syndrome was seldomly reported, and its clinical manifestations are heterogeneous. Condusion Renal involvement in Cockayne syndrome may be manifested with nephrotic syndrome which should be noticed.

20.
Journal of Clinical Pediatrics ; (12): 416-419, 2018.
Article in Chinese | WPRIM | ID: wpr-694695

ABSTRACT

Objective To explore the etiology and prognosis of Dent disease combined with renal failure in children. Methods The clinical data of 2 children with Dent disease combined with renal failure from January 2014 to December 2016 were analyzed and the related literature was reviewed. Results Both of them were male, with the age of 8 and 10 years old respectively. Their renal functions were normal, and no renal calcification. Both of them had the history of upper respiratory tract virus infections within 1 week before the onset of renal failure. In case 1, acute phase (10 days) renal biopsy showed combined with acute tubulointerstitial nephritis, and his renal function recovered completely after glucocorticoids treatment. In case 2, renal biopsy at 6 months in course of disease showed the combined with subacute tubulointerstitial nephritis, and his renal function was improved partly after glucocorticoids treatment. Conclusions For children with Dent disease combined with acute renal failure, especially with upper respiratory tract virus infections and other inducement, renal biopsy should be early performed to exclude the possibility of acute tubulointerstitial nephritis, so that the treatment can be timely conducted and the prognosis can be improved.

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