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1.
Article in Chinese | WPRIM | ID: wpr-908298

ABSTRACT

Objective:To explore the impact of nurses' hierarchical management on nurses' professional life quality, nursing quality and nursing risk in emergency department.Methods:A total of 40 nurses who were on duty in the Emergency Department of Tangshan Gongren Hospital from February 2018 to May 2020 were selected for the study. Our hospital performed routine management of emergency department nurses from February 2018 to February 2019. After a 3-month wash-out period, nurses were managed hierarchically from May 2019 to May 2020. According to the practical experience and educational background of nurses, they were divided into 5 levels, namely N0 level assistant nurse ( n=12), N1 level registered nurse ( n=9), N2 level responsible nurse ( n=10), N3 level specialist nurse ( n=5), N4 expert level ( n=4). Before and after the hierarchical management of nurses in the emergency department, the Quality of Nursing Work Life (QNWL) scale was used to evaluate the nurse′s quality of life, and the nursing quality was assessed by the Nursing Service Quality Questionnaire. Analyze the incidence of errors in the nursing process to assess the nursing risk. Results:The scores of work environment, work family balance, social environment, workload score and QNWL total score before the implementation of hierarchical management were 46.33 ± 8.52, 30.01 ± 6.07, 21.45 ± 4.60, 94.52 ± 8.06, 192.31 ± 12.46, respectively. After implementation, the scores were 51.29 ± 4.75,34.62 ± 4.68, 25.89 ± 3.58, 109.43 ± 6.15 and 221.23 ± 10.03, respectively. The scores after implementation were higher than those before ( t value was 3.216-11.435, P<0.05). The scores of human resource allocation, ward management, operating procedures, basic nursing, nurse training, nursing efficiency, nursing record writing, and first-aid goods management were 84.29 ± 9.75, 80.39 ± 12.46, 83.02 ± 5.63, 80.93 ± 9.84, 87.14 ± 6.12, 85.91 ± 8.46, 88.20 ± 6.76 and 83.51 ± 7.18, respectively. After the implementation, the scores were 92.38 ± 4.66, 94.67 ± 3.89, 91.25 ± 6.37, 94.78 ± 3.56, 95.01 ± 3.78, 93.81 ± 4.11, 95.13 ± 3.07, 93.57 ± 4.62, respectively. The scores after implementation were higher than those before ( t value was 4.735-8.371, P<0.05). After the implementation of nurses' hierarchical management, the nursing error rate was 4.44% (8/180), which was significantly lower than 10.00% (18/180) before implementation ( χ2 value was 4.146, P<0.05). Conclusions:The application of hierarchical management of nurses in emergency department can improve nurses' professional life quality, improve nursing quality, and reduce the incidence of nursing errors. It is worthy of popularization and application in emergency department.

2.
Chinese Journal of Urology ; (12): 656-661, 2021.
Article in Chinese | WPRIM | ID: wpr-911090

ABSTRACT

Objective:To investigate the efficacy and safety of radiotherapy for all metastases in patients with metachronous oligo-metastatic prostate cancer after radical treatment.Methods:From October 2011 to February 2021, 41 patients with prostate cancer with less than 5 metastases after radical treatment were retrospectively analyzed in a single center. The median age at radiotherapy was 68 (57-81) years. Forty patients (98%) received androgen deprivation therapy (ADT). There were 28 patients in the hormone sensitive (HSPC) group and 13 patients in the hormone resistant (CRPC) group. The median initial PSA was 24.4 (7.4-399.0) ng/ml. Tumor stage: T 2 stage 11 patients, T 3 stage 27 patients, T 4 stage 3 patients.30 patients were in N 0 stage and 11 patients in N 1 stage. Gleason score was 7 in 12 patients, 8 in 9 patients, 9 in 18 patients, and 10 in 2 patients.33 patients were treated with surgery, and 8 patients were treated with radiotherapy. The time span from diagnosis to metastasis was 3.1 (0.2-1.8) years. Conventional imaging examination (CT/ MRI/bone scan) before radiotherapy was used in 7 patients, and PSMA PET/CT examination was used in 34 patients.The median PSA before radiotherapy was 1.3(0.1-33.8) ng/ml. There were 62 metastases in 41 patients, including 1 lesion in 28 patients, 2 lesions in 9 patients, 3 lesions in 2 patients, and 5 lesions in 2 patients. Fifty-four patients had bone metastases and eight had retroperitoneal lymph node metastases. Twenty-two bone metastases were located in the pelvis, 18 in the vertebral body, 12 in the ribs, one in the femur and one in the sternum.The median metastatic volume was 5.8(0.2-81.7) cm 3.Daily image-guided rotational intensity modulated radiotherapy was used to cover all metastases.Dose segmentation modes include 37.5Gy/7.5Gy/5F, 60Gy/3Gy/20F, 65-70Gy/2.6-2.8Gy/25F.The median biological effective dose (BED 3) was 120 (67-147) Gy. The primary endpoint was biochemical progression-free survival (BPFS), the secondary endpoints were acute and late toxic side effects, local relapse-free survival (LPFS), and overall survival (OS). Results:The median follow-up time was 21 months (range 5-72 months). All patients completed radiotherapy, and 16 patients had grade 1 to 2 acute toxicity and side effects, and no grade 3 or above acute and late stage side effects. 1-year LPFS was 97.1%.The 1-year and 2-year BPFS were 77.5% and 59.2%, respectively. The median BPFS time was 29 months (range 13.9-44.2 months). Univariate analysis showed that the HSPC group ( P<0.001) and the group with total metastatic volume ≤ 5.8cm 3 ( P=0.010) had higher BPFS. The median BPFS time was 37 months in the retroperitoneal lymph node metastases subgroup and 17 months in the bone metastases subgroup ( P=0.141). In the HSPC group, the median BPFS was 30(22-38) months. After radiotherapy, PSA decreased in all 28 patients, and increased in 6 patients. The median BPFS was 12(4-18) months. In the CRPC group, the median BPFS was 4(0-8) months. PSA decreased in 10 patients (76.9%) after radiotherapy, and PSA decreased in 6 patients. The median BPFS was 5(3-28) months. Three patients’PSA did not decrease after radiotherapy, and they were treated with new endocrine therapy drugs, chemotherapy, immunotherapy and other systemic therapy. Conclusions:For patients with metachronous metastases after radical treatment, full coverage radiotherapy has good safety and high local control rate. HSPC patients and patients with low tumor load could be recommended to receive radiotherapy for all metastatic lesions preferentially, and patients with only retroperitoneal lymph node metastases may have better prognosis after radiotherapy than patients with bone metastases.

3.
Article in Chinese | WPRIM | ID: wpr-885134

ABSTRACT

This article reported a case of a male patient with primary hyperparathyroidism(PHPT) caused by an ectopic parathyroid adenoma in the anterior superior mediastinal. Hospital routine examinations indicated hyperlipidemia, hyperuricemia, type 2 diabetes with nephropathy, chronic kidney disease in stage Ⅳ, elevated PTH, hypercalcemia, hypophosphatemia, clinically highly suspected hyperparathyroidism. There was no obvious abnormality of parathyroid ultrasound, while 18F-FDG systemic metabolic imaging and 99mTc-MIBI dual-phase parathyroid imaging suggested that an ectopic parathyroid gland in the anterior superior mediastinal which was hyperactive. Evaluations of anterior pituitary function, pancreas, and endocrine-related hormones showed no obvious abnormalities, and thus we ruled out the possibility of multiple endocrine adenomas, combined with the patient′s symptoms and previous medical history, and ruled out the possibility of tertiary hyperparathyroidism, the patient was diagnosed as PHPT caused by the anterior superior mediastinal ectopic parathyroid adenoma. To restore the blood calcium to normal, the patient was treated with intravenous rehydration, diuresis, calcitonin to promote urinary calcium excretion, and zoledronic acid to inhibit bone resorption. Further thoracoscopic mediastinal tumor resection was performed, and the diagnosis of parathyroid adenoma was confirmed by pathology. All the indicators were normal and no recurrence of hyperparathyroidism was found during the follow-up. Integration of the patient′s clinical manifestations, biochemical indicators, and imaging examinations are necessary to diagnose PHPT qualitatively and location-specifically. In particular, it is necessary to pay attention to whether there is the possibilities of ectopic adenoma and multiple endocrine adenomas, to reduce the rates of missed diagnosis and recurrence.

4.
China Pharmacy ; (12): 584-589, 2021.
Article in Chinese | WPRIM | ID: wpr-873673

ABSTRACT

OBJECTIVE:To study the effect of isofla vaspidicacid PB (called PB for short )on the biofilm adhesion and the gene expression of ergosterol metabolism related enzymes in Trichophyton rubrum . METHODS :M38-A2 method was adopted to determine MIC of PB to T. rubrum . MTT assay was used to screen the biolfilm condition and initial adhesion period of T. rubrum . The effects of different concentrations of PB (40,80,160 µg/mL)on the adhesion duration of T. rubrum (growth control group without PB was set up ,similarly hereinafter )were evaluated and the adhesion rate was calculated by using XTT assay ;the effects of different concentrations of PB (20,40,80 µg/mL)on the biofilm formation of T. rubrum at different initial adhesion periods (3,5,9 h)were observed and the adhesion rate was calculated by using XTT assay combined with inverted microscope ;qRT-PCR method was used to detect the effects of PB (320 µg/mL)on the mRNA expression of ergosterol metabolism related enzyme gene ERG6 and ERG11 in biofilm of T. rubrum . RESULTS :MIC of PB to T. rubrum was 20 µg/mL. The biofilm of T. rubrum in RPMI-1640 medium containing 10% FBS was the most metabolism activity at 6 h of initial adhesion. Compared with growth control group ,after treated with different concentrations of PB ,adhesion rate and mRNA expression of ERG6 and ERG11 in biofilm were decreased significantly (P<0.01). Hyphae decreased or even disappeared ,and the adhesion inhibition rate (at 5 and 9 h of initial adhesion )increased significantly (P<0.05 or P<0.01). CONCLUSIONS :PB can inhibit the adhesion of T. rubrum and reduce the hyphae ;the mechanism may be associated with the inhibition of the biofilm adhesion and mRNA expression of ergosterol metabolism related enzyme gene ERG6 and ERG11.

5.
Article in Chinese | WPRIM | ID: wpr-870066

ABSTRACT

Objective:To identify the association of sex hormone and sex hormone-binding globulin (SHBG) levels in patients with Graves′ disease.Methods:Between December 2017 and July 2019, 152 patients with Graves′ disease were enrolled in the Department of Endocrinology and Metabolism of Zhongshan Hospital, Fudan University. Parameters such as height, weight, thyroid function, sex hormone, fasting blood glucose, insulin, C-peptide, glycosylated albumin, HbA 1C, and liver function were collected. The associations between SHBG and bioclinical characteristics were analyzed. Results:The glycosylated albumin level was negatively associated with SHBG in all subjects ( β=-0.308, P<0.01), while this association was not significant after the adjustment for thyroid hormones. Male patients had significantly lower SHBG level than female patients ( P<0.01). In male patients, SHBG was associated with luteinizing hormone ( r=0.465, P<0.01), estradiol ( r=0.629, P<0.01), testosterone ( r=0.786, P<0.01). While in female patients, SHBG was also associated with testosterone ( r=0.191, P<0.05). In multivariate linear regression analysis, estradiol was independently associated with SHBG ( β=0.329, P<0.01) in male subjects. Conclusion:The hypogonadism and infertility in Graves′ disease patients could partially be attributed to the association between SHBG and Graves′ disease.

6.
Article in Chinese | WPRIM | ID: wpr-870036

ABSTRACT

Objective:To analyze the clinical features of type 2 diabetic patients with insulin autoimmune syndrome after treatment with exogenous insulin.Methods:A total of 106 patients with type 2 diabetes diagnosed with exogenous insulin-related insulin autoimmune syndrome (EIAS) were included from September 2017 to March 2019 in the Department of Endocrinology, Zhongshan Hospital, Fudan University. The clinical data, physical examination, and laboratory examination results of patients were collected.Results:Of the 106 patients, 84 (79.24%) used premixed human insulin or premixed insulin analogs, and 18 patients (16.98%) presented recurrent hypoglycemia. The arginine stimulation test showed that the median value of the baseline insulin was 73.40 (23.07-146.75) μU/ml, and the median ratio of 4 minute insulin to 0 minute insulin was 1.27 (1.03-1.85), with the mean of the ratio 1.72±1.47. The ratio of baseline insulin (μU/ml) to C-peptide (ng/ml) was 44.60 (14.92-87.93), with an average of 81.92±130.93. Taking the two-fold upper limit of fasting insulin reference value (49.8 μU/ml) as the cut-off point, the subjects were divided into insulin accumulation group (baseline insulin≥49.8 μU/ml) and insulin non-accumulation group (baseline insulin <49.8 μU/ml). Among the 66 patients in the insulin accumulation group, 14 patients had hypoglycemia (21.21%) and 4 patients in the insulin non-accumulation group presented hypoglycemia (10%). The ratio of 4 minute insulin to baseline insulin, ratio of baseline insulin to C-peptide, blood glucose level standard deviation (SDBG) and maximum blood glucose fluctuation amplitude (LAGE) in the insulin accumulation group were significantly higher than those in the insulin non-accumulation group (all P<0.05). Among 66 patients in the insulin accumulation group, 36 patients changed the type of insulin preparafion (insulin treatment group), 30 patients were changed from insulin to oral hypoglycemic agents (oral medication group). After treatment, both SDBG and LAGE in the two groups were significantly lower than before treatment ( P<0.05). Conclusions:With the aggravation of exogenous insulin accumulation, the fluctuation of blood glucose and the proportion of hypoglycemia were significantly increased. There was a characteristic change in islet function in patients with insulin autoimmune syndrome. After arginine stimulation, there was no significant peak of insulin secretion, showing a " high-level" curve. The baseline insulin/C-peptide ratio was significantly increased. The prognosis of EIAS patients is good after timely diagnosis and adjustment of treatment.

7.
Chinese Journal of Urology ; (12): 394-396, 2020.
Article in Chinese | WPRIM | ID: wpr-869658

ABSTRACT

Urothelial carcinoma (UC) is the second most commonly diagnosed genitourinary tumor, and upper tract urothelial carcinoma (UTUC) accounts for 5% of UC in USA. It may be more in Asia. Senventy-eight percent of UTUC may be invasive when diagnosed. The radical nephroureterectomy (RNU) with bladder cuff is the golden standard treatment. In recent years, as the development of radiotherapy, adjuvant radiotherapy (ART) after RNU has been used to treat UTUC patients, but its efficacy is still a controversy. We did this review focusing on ART’s efficacy after RNU to guide and help the clinical practice.

8.
Article in Chinese | WPRIM | ID: wpr-868740

ABSTRACT

Objective:To analyze the influencing factors of hemoglobin changes in prostate cancer patients during radiotherapy combined with androgen-deprivation therapy (ADT) and analyze the relationship between the hemoglobin changes and long-term prognosis.Methods:The changes of hemoglobin levels in 145 prostate cancer patients treated with radiotherapy combined with ADT in Department of Radiation Oncology of Peking University First Hospital from November 2011 to May 2015 were retrospectively analyzed. Intensity-modulated radiotherapy (IMRT) was employed for conventionally fractionated radiotherapy. Luteinizing hormone-releasing hormone agonist was utilized for endocrine therapy.Results:The median hemoglobin reduction during radiotherapy combined with ADT was 8 g/L. The higher the baseline level of hemoglobin, pelvic irradiation and GS score before radiotherapy, the more obvious the decrease of hemoglobin during treatment (all P<0.001). Pelvic radiotherapy significantly increased the decline tendency of hemoglobin throughout the combined treatment (86.8% vs. 72.8%, P=0.05). The duration of endocrine therapy before radiotherapy and the hemoglobin changes during endocrine therapy alone were not significantly correlated with the degree of hemoglobin decline during subsequent radiotherapy ( P=0.53 and 0.837). The biochemical failure-free survival did not significantly differ between patients with significant and mild hemoglobin reduction ( P=0.686). Conclusions:The baseline level of hemoglobin before radiotherapy is negatively correlated with the decrease of hemoglobin during combined therapy. Pelvic radiotherapy is positively correlated with hemoglobin reduction during combined therapy. Hemoglobin reduction during combined therapy is not associated with the long-term biochemical failure-free survival of patients.

9.
Article in English | WPRIM | ID: wpr-772282

ABSTRACT

Proteases are important molecules that are involved in many physiological and pathological processes of the human body, such as growth, apoptosis and metastasis cancer cells. They are potential targets in cancer diagnosis and biotherapy. In this study, we analyzed the salivary protease spectrum of patients with oral squamous cell carcinoma (OSCC), oral benign masses and chronic periodontitis, as well as that of health, using human protease array kits, enzyme-linked immunosorbent assay, western blot and immunofluorescence. The salivary protease spectrum was found to be associated with oral diseases. For example, the saliva of patients with OSCC contained increased numbers of proteases than those of other oral diseases and health. The levels of matrix metalloproteinase (MMP)-1, MMP-2, MMP-10, MMP-12, A disintegrin and metalloprotease (ADAM)9, A disintegrin and metalloprotease with thrombospondin type 13 motifs (ADAMST13), cathepsin V and kallikrein 5 in the saliva of patients with OSCC were significantly increased compared with those of other groups. Taking MMP-1, cathepsin V, kallikrein 5 and ADAM9 as biomarkers of OSCC, cutoff values were199, 11.34, 9.29 and 202.55 pg·mL, respectively. From the area under the curve, sensitivity and specificity, the combination of cathepsin V/kallikrein5/ADAM9 was an optimal biomarker for diagnosing OSCC. Thus, analysis of the salivary protease spectrum may be an innovative and cost-efficient approach to evaluating the health status of the oral cavity. Specifically, increases in cathepsin V, kallikrein 5 and ADAM9 may be useful biomarkers in the screening and diagnosis of OSCC.


Subject(s)
ADAM Proteins , Biomarkers, Tumor , Carcinoma, Squamous Cell , Diagnosis , Metabolism , Humans , Matrix Metalloproteinase 9 , Membrane Proteins , Mouth Neoplasms , Diagnosis , Metabolism , Saliva , Chemistry
10.
Article in English | WPRIM | ID: wpr-772270

ABSTRACT

With recent developments in photosensitizers and light delivery systems, topical 5-aminolevulinic acid-mediated photodynamic therapy (ALA-PDT) has become the fourth alternative therapeutic approach in the management of oral leucoplakia (OLK) due to its minimally invasive nature, efficacy, and low risk of systemic side effects and disfigurement. This report presents step-by-step guidelines for applying topical ALA-PDT in the management of OLK based on both the clinical experience of the authors and a systematic review of the current literature. Studies using protocols with standardized parameters and randomized clinical trials at multiple centres with adequate sample sizes and both interim and long-term follow-ups are needed before universally applicable guidelines can be produced in this field.


Subject(s)
Aminolevulinic Acid , Therapeutic Uses , Humans , Leukoplakia, Oral , Therapeutics , Photochemotherapy , Methods , Photosensitizing Agents , Therapeutic Uses , Practice Guidelines as Topic
11.
Chinese Journal of Biotechnology ; (12): 319-326, 2019.
Article in Chinese | WPRIM | ID: wpr-771374

ABSTRACT

This study aimed to obtain a recombinant human-source collagen for industrialization. First, based on the Gly-X-Y sequence of human type I collagen, we optimized the hydrophilic Gly-X-Y collagen peptide, designed the human collagen amino acid sequence and the corresponding nucleotide sequence. Next, the expression vector pPIC9K-COL was constructed via endonuclease digestion technology. We obtained an engineering strain of human-source collagen by electrotransforming Pichia pastoris, and then it was fermented, purified and identified. As a result, the expression level reached 4.5 g/L and the purity was over 95%. After amino acid N-terminal sequencing, molecular weight analysis, amino acid analysis and collagenase degradation test, we confirmed that the obtained collagen was consistent with designed primary structure of human-source collagen. After freeze-drying, we analyzed the collagen by scanning electron microscope and cell cytotoxicity, confirming that the collagen has porous fiber reticular structure and superior cytocompatibility. This indicates that human-source collagen has potential to be applied as biomedical material. In conclusion, we successfully obtained the expected human-source collagen and laid a foundation to its further application.


Subject(s)
Amino Acid Sequence , Biocompatible Materials , Collagen , Freeze Drying , Humans , Pichia , Recombinant Proteins
12.
Article in Chinese | WPRIM | ID: wpr-775250

ABSTRACT

To investigate risk factors of death in newborns with congenital diaphragmatic hernia (CDH). A total of 126 newborns with CDH from June 2012 to September 2018 were enrolled. Concomitant malformations were recorded by descriptive analysis. Newborns received surgical treatment (=120) for CDH were divided into survival group and fatal group. The risk factors of death were analyzed by univariate and multivariate logistic regression and the ROC curve with generated with relevant variables. There were 55 CDH newborns with concomitant malformations (43.7%), including 20 cases (15.9%) with multi-malformation. Logistic regression analysis showed that premature rupture of membranes (PROM), postoperative atelectasis, long duration of postoperative mechanical ventilation, postoperative high oxygenation index (OI) were related to death (all <0.05), and the delayed surgery was a protective factor (<0.05). In ROC analysis of postoperative OI in predicting death, the area under the curve (AUC) was 0.841, with the cutoff value of 5.74, the sensibility and specificity of OI was 81.0% and 75.0%, respectively(<0.01). Newborns with CDH have a high rate of malformations. The risk factors of death were PROM, postoperative atelectasis, postoperative long duration of mechanical ventilation and higher postoperative OI, and delayed surgery may reduce mortality.


Subject(s)
Hernias, Diaphragmatic, Congenital , Diagnosis , Mortality , General Surgery , Humans , Infant , Infant Death , Infant, Newborn , Logistic Models , ROC Curve , Retrospective Studies , Risk Factors , Sensitivity and Specificity
13.
Article in Chinese | WPRIM | ID: wpr-823865

ABSTRACT

To observe influence of atorvastatin on incidence rate of short‐and long‐term cardio‐and cere‐brovascular events in patients with hypertensive nephropathy (HNP).Methods :A total of 130 HNP patients treated in our hospital were enrolled ,randomly and equally divided into routine treatment group and atorvastatin group (re‐ceived atorvastatin based on routine treatment ).After three‐month treatment ,renal function ,inflammatory fac‐tors ,vascular endothelial function ,hemorheology ,levels of blood lipids and blood pressure etc .before and after treatment were observed in two groups ;after one‐year follow‐up ,incidence rates of short‐(six months) and long‐term (one year) cardio‐and cerebrovascular events were recorded in two groups .Results : Compared with routine treatment group after three‐month treatment ,there were significant reductions in levels of urinary albumin [ (35. 85 ± 4. 98) mg/ml vs.(29.63 ± 4.51) mg/ml] ,serum creatinine [ (92. 11 ± 10.52) μmol/L vs.(86. 43 ± 10. 16) μmol/L] , blood urea nitrogen [ (8. 16 ± 0. 45) mmol/L vs.(7.19 ± 0. 36) mmol/L] ,serum procalcitonin [ (1. 21 ± 0. 67) ng/ml vs .(0.67 ± 0. 31) ng/ml] ,C reactive protein [(49. 51 ± 8.79) mg/L vs.(33. 37 ± 8.15) mg/L] ,blood pres‐sure [(152.78 ± 4.52)/(94.37 ± 3.69) mmHg vs.(141.89 ± 4.13)/(91.52 ± 3. 24) mmHg] ,blood lipids (except HDL‐C) ,high shear whole blood viscosity ,low shear whole blood viscosity ,hematocrit ,plasma viscosity and fi‐brinogen level in atorvastatin group , P<0. 01 all.Compared with routine treatment group ,there were significant reductions in incidence rates of short‐ and long‐term unstable angina pectoris ,carotid artery stenosis and coronary stenosis ,and long‐term hemorrhagic stroke in atorvastatin group , P<0.05 or <0.01. Conclusion :Statins can sig‐nificantly reduce incidence rates of short‐ and long‐term cardio‐ and cerebrovascular events in patients with hyper‐tensive nephropathy .

14.
Article in Chinese | WPRIM | ID: wpr-755700

ABSTRACT

Nonalcoholic fatty liver disease is a metabolic stress liver injury, including simple hepatic steatosis, nonalcoholic steatohepatitis (NASH), cirrhosis, and hepatocellular carcinoma (HCC). Liver fibrosis in NASH patients progressed by an average of 7 to 10 years, and the incidence of cirrhosis in NAH patients was only 0.6%to 3.0%after 10 to 20 years of follow-up. This case reports a 21-year-old man with pituitary dysfunction and cirrhosis, whose condition develops rapidly. The mechanism may be that growth hormone deficiency affects liver signaling transduction pathways to make the liver metabolism disordered, causing nonalcoholic fatty liver disease. In this report, the pathogenesis, diagnosis and treatment of this case of cirrhosis duo to hypopituitarism in adolescence are reviewed retrospectively to improve the understanding of the diagnosis and therapy of this disease.

15.
Article in Chinese | WPRIM | ID: wpr-800751

ABSTRACT

Objective@#Retrospective analysis of clinical data of patients with primary aldosteronism in the past 2 years, to assess the value of liquid chromatography-mass spectrometric method (LC-MS/MS) aldosterone to renin ratio(ARR) and saline infusion test and its optimal cutoff in the diagnosis of primary aldosteronism(PA).@*Methods@#A total of 124 healthy volunteers were recruited to determine the normal reference range for LC-MS/MS aldosterone. 375 patients with high risk of primary aldosteronism were enrolled during March 2016 to November 2017. Among them, 241 patients underwent the saline infusion test. Receiver operating characteristic (ROC) analysis was performed to compare the diagnostic accuracie and the cutoff value of random ARR and post saline infusion test.@*Results@#The average level of LC-MS/MS aldosterone in healthy volunteers was(9.16±6.73)ng/dl (95% CI 2.34-22.18 ng/dl). Among 375 patients with high risk of PA, 143 patients with PA and 232 patients with essential hypertension (EH) were diagnosed. The area under the ROC curve(AUC ROC) of random ARR was 0.837(0.787-0.886), the cutoff point was 13.84 (ng/dl)/(ng/ml·h), with a sensitivity of 78.3% and a specificity of 79%. Using post-test plasma aldosterone concentration (PAC) for diagnosis, AUC ROC of the saline infusion test was 0.807(0.747-0.867), the cutoff point was 4.29 ng/dl, with a sensitivity of 90.6% and a specificity of 69.6%.@*Conclusion@#The normal range of LC-MS/MS aldosterone is 2.34-22.18 ng/dl. In our research, random ARR value above 13.84(ng/dl)/(ng/ml·h) can be the cutoff point in screening the suspected PA patients.PAC post- saline infusion test more than 4.29 ng/dl is recommended to confirm PA.

16.
Chinese Journal of Dermatology ; (12): 743-746, 2019.
Article in Chinese | WPRIM | ID: wpr-796841

ABSTRACT

A 23-year-old male patient presented with repeated painful erosion on the soles of both feet for 10 years, and with walking difficulties for half a month. Skin examination showed thick dark-brown finger and toe nails with distal protuberance, and hard keratinous materials under the nails. Obvious hyperkeratosis and maceration occurred on the soles of both feet, which appeared milky-white in color; diffuse papulovesicles were observed on the soles and lateral margins of both feet with scattered erosions. Vesicles were observed on the wrist and forehead. Follicular papules and fine scales were scattered on the extensor aspect of the forearm and elbow, and diffuse white patches were observed on the surface of the tongue. The above clinical manifestations were consistent with pachyonychia congenita. Peripheral blood samples were obtained from the patient, his parents and grandmother, and subjected to whole-exome sequencing. Sequencing showed two mutations in both the patient and his father, including base deletions at position 516-518 (c.516-518 del CAA) in exon 1 of the KRT6A gene, which caused pachyonychia congenita-K6a, and a base substitution at position 3 970 (c.3970 C>T) in exon 27 of the PLEC gene, which may cause epidermolysis bullosa simplex Ogna. The same mutation in the PLEC gene was found in the patient′s grandmother. The patient was diagnosed with pachyonychia congenita complicated by suspected epidermolysis bullosa simplex Ogna. After 9-month treatment with acitretin, the nails became lighter in color, plantar skin lesions were obviously relieved, and scattered millet-like vesicles in the wrist completely subsided. The patient was followed up at present.

17.
Article in Chinese | WPRIM | ID: wpr-796352

ABSTRACT

Objective@#To improve the understanding of 17α-hydroxylase/17, 20-lyase deficiency(17OHD)disease.@*Methods@#The clinical data of six patients suffering from 17OHD were analyzed retrospectively.@*Results@#Two patients with complete combined defect had typical clinical presentations, including absence of secondary sexual characteristics, primary amenorrhea, hypertension, hypokalamia, lower gonadal hormone levels, as well as elevated corticotropin and progesterone levels. TAC329AA homozygous mutation, IVS1+ 2T>C, and c. 775_776delAT complex heterozygous mutation were found in 2 cases. Four cases of partial combined defect showed high progesterone, lower gonadal hormones and dehydroepiandrosterone-sulfate levels. Three females(46, XX)showed spontaneous menstrual and primary infertility, and two of them got successful pregnancy with assisted reproductive technology. TAC329AA heterozygous mutation was found in those 4 cases.@*Conclusions@#TAC329AA mutation is common in 17OHD, and heterozygous or homozygous mutation of TAC329AA may be the genetic and molecular basis for determining whether these patients present as partial or complete defect. The elevated plasma progesterone in non-pregnancy combined with lower gonadal hormones and dehydroepiandrosterone-sulfate is the main character of patients with partial 17OHD. Less severe patients may be able to get successful pregnancy with assisted reproductive technology.

18.
Chinese Journal of Dermatology ; (12): 743-746, 2019.
Article in Chinese | WPRIM | ID: wpr-791778

ABSTRACT

A 23-year-old male patient presented with repeated painful erosion on the soles of both feet for 10 years, and with walking difficulties for half a month. Skin examination showed thick dark-brown finger and toe nails with distal protuberance, and hard keratinous materials under the nails. Obvious hyperkeratosis and maceration occurred on the soles of both feet, which appeared milky-white in color;diffuse papulovesicles were observed on the soles and lateral margins of both feet with scattered erosions. Vesicles were observed on the wrist and forehead. Follicular papules and fine scales were scattered on the extensor aspect of the forearm and elbow, and diffuse white patches were observed on the surface of the tongue. The above clinical manifestations were consistent with pachyonychia congenita. Peripheral blood samples were obtained from the patient, his parents and grandmother, and subjected to whole-exome sequencing. Sequencing showed two mutations in both the patient and his father, including base deletions at position 516- 518 (c.516-518 del CAA) in exon 1 of the KRT6A gene, which caused pachyonychia congenita-K6a, and a base substitution at position 3970(c.3970 C>T)in exon 27 of the PLEC gene, which may cause epidermolysis bullosa simplex Ogna. The same mutation in the PLEC gene was found in the patient' s grandmother. The patient was diagnosed with pachyonychia congenita complicated by suspected epidermolysis bullosa simplex Ogna. After 9-month treatment with acitretin, the nails became lighter in color, plantar skin lesions were obviously relieved, and scattered millet-like vesicles in the wrist completely subsided. The patient was followed up at present.

19.
Article in Chinese | WPRIM | ID: wpr-791721

ABSTRACT

Objective To improve the understanding of 17α-hydroxylase/17, 20-lyase deficiency ( 17OHD ) disease. Methods The clinical data of six patients suffering from 17OHD were analyzed retrospectively. Results Two patients with complete combined defect had typical clinical presentation, including absence of secondary sexual characteristics, primary amenorrhea, hypertension, hypokalamia, lower gonadal hormone levels, as well as elevated corticotropin and progesterone levels. TAC329AA homozygous mutation,IVS1+2T>C, and c.775 776delAT complex heterozygous mutation were found in 2 cases. Four cases of partial combined defect showed high progesterone, lower gonadal hormones and dehydroepiandrosterone-sulfate levels. Three females (46, XX) showed spontaneous menstrual and primary infertility, and two of them got successful pregnancy with assisted reproductive technology. TAC329AA heterozygous mutation was found in those 4 cases. Conclusions TAC329AA mutations are common in 17OHD, and heterozygous or homozygous mutation of TAC329AA may be the genetic and molecular basis for determining whether these patients present as partial or complete defect. The elevated plasma progesterone in non-pregnancy combined with lower gonadal hormones and dehydroepiandrosterone-sulfate is the main character of patients with partial 17OHD. Less severe patients may be able to get successful pregnancy with assisted reproductive technology.

20.
Article in Chinese | WPRIM | ID: wpr-775822

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a neonate featuring hyperammonemia.@*METHODS@#The patient was examined and tested by tandem mass spectrometry and next generation sequencing (NGS). Suspected mutations were confirmed by Sanger sequencing of the proband and her parents. Potential impact of the mutation was predicted with SIFT, PolyPhen-2 and MutationTaste software.@*RESULTS@#Plasma ammonia and alanine were significantly increased in the proband, while serum citrulline was decreased. The neonate was found to harbor compound heterozygous mutations of the CPS1 gene [c.1631C>T(p.T544M) and c.1981G>T(p.G661C)], which were respectively inherited from her father and mother.@*CONCLUSION@#The carbamoyl phosphate synthetase I deficiency of the proband can probably be attributed to the mutations of the CPS1 gene. Above finding has expanded the spectrum of CPS1 mutations in association with carbamoyl phosphate synthetase I deficiency.


Subject(s)
Carbamoyl-Phosphate Synthase (Ammonia) , Genetics , Carbamoyl-Phosphate Synthase I Deficiency Disease , Genetics , Female , High-Throughput Nucleotide Sequencing , Humans , Hyperammonemia , Diagnosis , Genetics , Infant, Newborn , Mutation
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