1.Optimization and quality improvement of critical value report procedures in emergency room laboratories
Xiying HUANG ; Yingyu FU ; Lingwei SHEN
Chinese Journal of Laboratory Medicine 2015;(6):431-432
Critical value report procedures need to be improved rationally by urban space saving, post setting, and monitoring and analysis of historical data of critical value.Laboratory is required to develop and put into practice critical value policies and procedures by numerous regulatory agency standards, such as, International Standard Organization ( ISO 15189) , College of American Pathologists.Laboratories should implement and continuously improve quality management system for achieving the quality goals set by Laboratory and International Standard Organization.
2.Clinical Observation of Abdominal Acupuncture Combined with Chinese Medicine for Treatment of Qi-deficiency Functional Constipation
Beiping ZHANG ; Xiying ZHAO ; Mengwei LIU ; Yongjian LI ; Jinghua HUANG
Journal of Guangzhou University of Traditional Chinese Medicine 2015;(1):48-51
Objective To observe the therapeutic effect of abdominal acupuncture combined with Chinese medicine for the treatment of functional constipation. Methods Ninety-three qi-deficiency functional constipation patients were evenly randomized into western medicine group, Chinese medicine group and combination group. The western medicine group was given oral use of Dupbalac, Chinese medicine group was given modified Buzhong Yiqi decoction, and the combination group was given abdominal acupuncture and oral use of modified Buzhong Yiqi decoction. The treatment of the three groups covered 3 months. After treatment, the therapeutic effect was evaluated accord ing to the symptom scores and the examination results of gastrointestinal kinetics. Results ( 1) The total effective rate for relieving symptoms was 100.00% in combination group, 90.32% in Chinese medicine group, and 38.71% in western medicine group, and the effect was the best in the combination group ( P<0.05). ( 2) The combination group had stronger effect on relieving dyskinesis of anal sphincter, rectal sensibility, colonic transportation than Chinese medicine group and western medicine group (P<0.05). Conclusion Abdominal acupuncture combined with Chinese medicine shows certain therapeutic effect for the treatment of qi-deficiency functional constipation, and the effect is superior to that of Chinese medicine or Dupbalac.
3.Clinical and molecular genetic characteristics of 24 families of hereditary neuropathy with liability to pressure palsy and literature review
Wanqian CAO ; Shunxiang HUANG ; Huadong ZHAO ; Zhongzheng LI ; Xiying ZHU ; Lei LIU ; Ruxu ZHANG
Journal of Central South University(Medical Sciences) 2023;48(10):1572-1582
Objective:Hereditary neuropathy with liability to pressure palsy(HNPP)is a rare autosomal dominant peripheral neuropathy,usually caused by heterozygous deletion mutations in the peripheral myelin protein 22(PMP22)gene.This study aims to investigate the clinical and molecular genetic characteristics of HNPP. Methods:HNPP patients in the Department of Neurology at Third Xiangya Hospital of Central South University from 2009 to 2023 were included in this study.The general clinical data,nervous electrophysiological and molecular genetic examination results were collected and analyzed.Molecular genetic examination was to screen for deletion of PMP22 gene using multiplex ligation-dependent probe amplification(MLPA)after extracting genomic DNA from peripheral blood;and if no PMP22 deletion mutation was detected,next-generation sequencing was used to screen for PMP22 point mutations.The related literatures of HNPP were reviewed,and the clinical and molecular genetic characteristics of HNPP patients were analyzed. Results:A total of 34 HNPP patients from 24 unrelated Chinese Han families were included in this study,including 25 males and 9 females.The average age at illness onset was 22.0 years.Sixty-two point five percent of the families had a positive family history.Among them,30 patients had symptoms of peripheral nerve paralysis.Patients often presented with paroxysmal single limb weakness with(or)numbness(25/30),and some patients had paroxysmal unilateral recurrent laryngeal nerve(vagus nerve)paralysis(2/30).Physical examination revealed muscle weakness(23/29),hypoesthesia(9/29),weakened or absent ankle reflexes(20/29),distal limb muscle atrophy(8/29)and high arched feet(5/29).Most patients(26/30)could fully recover to normal after an acute attack.Thirty-one patients in our group underwent nervous electrophysiological examination,and showed multiple demyelinating peripheral neuropathies with both motor and sensory nerves involved.Most patients showed significantly prolonged distal motor latency(DML),mild to moderate nerve conduction velocity slowing,decreased amplitude of compound muscle action potential(CMAP)and sensory nerve action potential(SNAP),and sometimes with conduction block.Nerve motor conduction velocity was(48.5±5.5)m/s,and the CMAP amplitude was(8.4±5.1)mV.Nerve sensory conduction velocity was(37.4±10.5)m/s,and the SNAP amplitude was(14.4±15.2)μV.There were 24 families,23 of whom had the classical PMP22 deletion,the last one had a heterozygous pathogenic variant in the PMP22 gene sequence(c.434delT).By reviewing clinical data and genetic testing results of reported 1 734 HNPP families,we found that heterozygous deletion mutation of PMP22 was the most common pathogenic mutation of HNPP(93.4%).Other patients were caused by PMP22 small mutations(4.0%),PMP22 heterozygous gross deletions(0.6%),and PMP22 complex rearrangements(0.1%).Thirty-eight sorts of HNPP-related PMP22 small mutations was reported,including missense mutations(10/38),nonsense mutations(4/38),base deletion mutations(13/38),base insertion mutations(3/38),and shear site mutations(8/38).HNPP patients most often presented with episodic painless single nerve palsy.Common peroneal nerve,ulnar nerve,and brachial plexus nerve were the most common involved nerves,accounting for about 75%.Only eighteen patients with cranial nerve involved was reported. Conclusion:Heterozygous deletion mutation of PMP22 is the most common pathogenic mutation of HNPP.Patients is characterized by episodic and painless peripheral nerve paralysis,mainly involving common peroneal nerve,ulnar nerve,and other peripheral nerves.Nervous electrophysiological examination has high sensitivity and specificity for the diagnosis of HNPP,which is manifested by extensive demyelinating changes.For patients with suspected HNPP,nervous electrophysiological examination and PMP22-MLPA detection are preferred.Sanger sequencing or next generation sequencing can be considered to detect other mutations of PMP22.
4.Introduction to the revision of Diagnostic Standard for Occupational Medicamentose-like Dermatitis due to Trichloroethylene
Lihua XIA ; Ying ZHANG ; Xiaofeng DENG ; Shanyu ZHOU ; Yongshun HUANG ; Xiying LI ; Qifeng WU ; Muwei CAI ; Xiaowen LUO ; Fengling ZHAO
China Occupational Medicine 2024;51(1):37-42
With the development of clinical related disciplines, the update and establishment of relevant standards/guidelines at home and abroad, GBZ 185-2006 Diagnostic Criteria for Occupational Medicamentose-like Dermatitis due to Trichloroethylene (hereinafter referred to as “GBZ 185-2006”) was unable to meet clinical needs. Therefore, the GBZ 185-2006 was revised based on the principles of evidence-based medicine, in accordance with relevant laws/regulations and relevant standards/guidelines in combination with review of research data on occupational medicamentose-like dermatitis due to trichloroethylene (OMDT) home and abroad, and the development of clinical practice and clinical related disciplines. The main modifications include: adding terms and definitions of OMDT, modifying the description of clinical manifestations of the diagnostic principles, adjusting the description of latency, deleting the diagnostic requirement of the incidence probability, adding the specific allergen patch test as the etiological diagnostic index, standardizing the application scope, operating procedure and precautions of the specific allergen patch test. In addition, the relevant content of “Basic Characteristics and Clinical Types of Skin Damage of Medicamentose-like Dermatitis due to Trichloroethylene” in Appendix A is improved, the treatment principles are revised, and the content of new progress in treatment, artificial liver application, are added. The revised GBZ 185-2024 Diagnostic Standard for Occupational Medicamentose-like Dermatitis due to Trichloroethylene is more scientific and practical, and can provide technical basis for the standardized diagnosis and treatment of OMDT in medical and health institutions.
5.Correlation of serum and follicular fluid SREBP1c and LRG1 levels with insulin resistance in PCOS patients
Xiaoting GUI ; Qi HUANG ; Xiaoying YUAN ; Yachao BA ; Yu LI ; Xiying ZHANG ; Qian WANG ; Lin ZHANG ; Han ZHANG ; Ying ZHANG ; Xin LIAO
Chinese Journal of Endocrinology and Metabolism 2023;39(11):937-943
Objective:To investigate the serum and follicular fluid levels of sterol regulatory element-binding protein 1c(SREBP-1c), leucine-rich α-2-glycoprotein 1(LRG1) and the correlation with insulin resistance(IR) in non-ovarian etiology infertility patients and polycystic ovary syndrome(PCOS) patients with or without IR.Methods:Forty-nine PCOS patients and 66 infertility patients with non-ovarian etiology were collected in this retrospective study, homeostasis model assessment for insulin resistance(HOMA-IR) was used to evaluate IR, and were divided into control group( n=36), IR group( n=30), PCOS alone group( n=28) and PCOS-IR group(PCOS with IR group, n=21). The concentrations of serum, follicular fluid LRG1 and SREBP1c levels in each group were compared, and their correlation with relevant hormones and glycolipid metabolism were analyzed. Results:The levels of serum, follicular fluid LRG1 and SREBP1c in IR group, PCOS alone group and PCOS-IR group were significantly higher than those in control group; The PCOS-IR group showed a more significant increase in the levels of serum, follicular fluid LRG1 and SREBP1c( P<0.05). Correlation analysis showed that serum, follicular fluid LRG1 was positively correlated with body mass index, fasting plasma glucose(FPG), fasting insulin(FINS), triglycerides(TG), and HOMA-IR( P<0.05). Serum, follicular fluid SREBP1c was positively correlated with body mass index, FPG, FINS, TG, total cholesterol, LDL-C, LH, total teststerone, DHEAS, FAI, and HOMA-IR( P<0.05). Binary logistic regression analysis showed that serum SREBP1c was a risk factor for PCOS( P<0.05). Conclusion:The serum and follicular fluid levels of LRG1 and SREBP-1c were elevated in PCOS patients, especially in those with IR. The elevated levels of serum and follicular fluid LRG1 and SREBP-1c may be associated with IR and glucose-lipid metabolism abnormalities in PCOS patients. Serum LRG1 and SREBP-1c levels may serve as new indicators for predicting IR, early diagnosis, and intervention in PCOS patients.