Objective To explore the quantitative expression of estrogen receptor(ER),progesterone receptor(PR)in breast hyperplasia and its Clinical significance.Methods The expression of ER and PR was examined by immunohistochemical S-P method and quantitative analysis technique in 20 cases a piece of epithelial hyperplasia of usual type,atypical hyperplasia(mild,moderate,severe)and intraductal carcinoma,which contrasted with 20 cases of usual breast.Results The difference of the expression of ER and PR between usual breast or epithelial hyperplasia of usual type and atypical hyperplasia or intraductal carcinoma was significant(P50%,there was significant difference between moderate dysplasia and mild dysplasia,but no significant difference between moderate dysplasia and severe dysplasia,intraductal carcinoma.Conclusions The abnormal expression of ER and PR may be an early event in the progression of breast carcinoma,it could be used for early diagnosis of breast premalignancy and as a effective mark to monitor the prognosis.

Objective To investigate and evaluate the detection and the variety of histology type constituent of the thyroid malignant tumor before and after universal salt iodization.Methods 1011 clinical pathological data of thyroid malignant tumor confirmed pathologically from 1961 to 2000 was retrospectively analyzed.The detection rate of thyroid malignant tumor,the constituent ratios of each histology type and the changes of age and sex distribution in main types of thyroid malignant tumor were determined.Results The total detection rate of thyroid malignant tumor after universal salt iodization (USI) (0.69%) were obviously increased compared with before universal salt iodization(0.46%,P40 years old) than before USI(≤40 years old).The incidence rates of thyroid malignant tumor in female patients were higher than male patients before and after USI.Conclusion The proportion and average age of thyroid malignant tumor increases after USI.The histological types of thyroid carcinoma have changes after USI:the proportion of PC increases obviously,the proportion of FC decreases accordingly.The average age of thyroid malignant tumor sufferers tends to increase and the peak ages of PC,FC and UC raise after USI.

Background Diabetic retinopathy (DR) has become the main cause of blindness in the world,But the etiology of DR is still not clear,and the results of the studies on the risk factors of DR are not completely consistent.Fully understanding the risk factors of DR has an important clinical value for the prevention and treatment of DR.Objective This study was to analyze the prevalence rate and risk factors of DR inpatients with type 2 diabetes and provide a basis for the establishment of ophthalmic intervention programs and measures for diabetic inpatients.Methods Cross sectional study was performed.Four hundred and seventy three patients with type 2 diabetes in the department of endocrinology,Dongguan People's Hospital from July 2011 to July 2012 were included.The patients were divided into DR group and non diabetic retinopathy (NDR) group.The DR group was subdivided into mild,moderate and severe non-proliferative DR (NPDR) group and proliferative DR (PDR) group.The sex and age of patients,course of diabetes,body mass index (BMI),systolic blood pressure,diastolic blood pressure,fasting blood glucose (FBG),2 hours postprandial blood glucose (2 h PBG),glycosylated hemoglobin (HbA1 c),fasting insulin,2 hours postprandial insulin,high density lipoprotein cholesterol,low density lipoprotein cholesterol,apolipoprotein A1 (APOA1),APOB,alpha lipoprotein,total cholesterol,three glycerol,urea nitrogen,creatinine,uric acid,percentage of neutrophil,24 hours urinary albumin total (ALBU-24 h) and ALBU were detected.Logistic regression was used to analyze the relationship between DR and various factors,and the risk factors of DR were screened out.Results The prevalence of DR inpatients with type 2 diabetes was 28.33％,the prevalence of mild,moderate and severe NPDR were 2.54％,16.28％ and 4.23％,respectively,the prevalence of PDR was 5.29％.The prevalence of DME was 10.36％ in the DR patients.The course of diabetes,the levels of serum lipoprotein,creatinine,ALBU-24 h and ALBU were statistically significant between DR group and NDR group (all at P＜0.05).By stepwise Logistic regression analysis,the course of disease,FBG were identified as the independent risk factors of DR (course of disease:odds ratio [OR] =1.155,95 ％ confidence interval [CI]:1.067-1.251;FBG:OR =1.313,95％ CI:1.071-1.610).Conclusions The course of diabetes,lipoprotein,creatinine,ALBU-24h,ALBU are closely related to the occurrence and development of DR.The course of diabetes and FBG are the independent risk factors of DR.

Objective:To improve the recognition of clinical phenotype and genotype of Angelman syndrome(AS).Methods:The clinical data of a child with AS in Department of Pediatric Rehabilitation, the First Affiliated Hospital of Xinxiang Medical University at May 2018 was analyzed, retrospectively.Results:One 2- year-old female child could not walk alone for more than half a year.The physical examination proved that her head circumference was small, speech was unable, gait was unstable and the toes and feet were pointed.The developmental quotient was 19 points; the motor score was 10 points and the language score was 7 points.The c. 580G>T heterozygous nonsense variation of UBE3A gene was discovered through whole exon sequencing.This mutation resulted in the termination of amino acid 194 Glu(p.Glu194Stop, 682), which was nonsense variation, making the protein lose 682 amino acids.Family verification proved that c. 580G>T was a novel variant, and both parents were wild type. Conclusion:It is obvious that the heterozygous nonsense mutation of UBE3A gene c. 580G>T is a new cause of AS.

Objective:To improve recognition of the clinical phenotype and genotype of achondroplasia(ACH).Methods:The clinical data and genetic test results of 2 children with ACH were analyzed retrospectively, and the related literature was reviewed.Results:Case 1 was a 1-year-old girl whose mother was short in stature.She was admitted to the hospital due to knee reflexes of both lower limbs for more than 9 months.Physical examination showed that her head circumference was 45 cm and she had short stature, short limbs, low muscle tension of both lower limbs, the developmental quotient was 65 scores.Bilateral ilium and hip joint lesions by X-ray were considered as ACH.According to the submitted gene results, FGFR3 gene c. 1138G >A (p.Gly380Arg) of the girl showed the heterozygous variation, and that gene of her mother showed the heterozygous variation.Case 2 was a 10-month-old girl, who was admitted to the hospital due to limb weakness for over 5 months.Physical examination showed head circumference of 46 cm, short stature, short limbs, reduced muscle tension of limbs, grade 4 muscle strength of limbs, and the developmental quotient was 41 scores.X-ray showed that both lower limbs were in accordance with ACH.The gene results suggested the heterozygous variation of FGFR3 gene c. 1138G >A (p.Gly380Arg) in the girl(a novel mutation), and a wild-type gene in her parents. Conclusions:The clinical features of achondroplasia are diverse.The bone changes and nerve development also need to be recognized and discriminated.

Objective:To study the clinical manifestations and genetic characteristics of neonatal-onset primary mitochondrial disease (PMD) caused by nuclear gene mutations.Methods:From May 2020 to March 2022, the clinical data, genetic results and follow-up information of neonates with PMD admitted to the Department of Neonatology of our two hospitals were retrospectively analyzed.Results:A total of 4 patients were enrolled, all with hyperlactatemia and metabolic acidosis. In case 1, the fetal cranial MRI showed agenesis of corpus callosum. In case 2, echocardiography after birth indicated hypertrophic cardiomyopathy. Whole exome sequencing found the following mutations: EARS2 nuclear gene c.1294C>T and c.971G>T variants, COA6 nuclear gene c.411_412insAAAG variant, ACAD9 nuclear gene c.1278+1G>A and c.895A>T variants, FOXRED1 nuclear gene c.1054C>T and c.3dup variants. Mitochondrial second-generation sequencing and multiplex ligation-dependent probe amplification showed no abnormalities. Cases 1 and 3 died during the neonatal period. Case 2 died at 2-year-and-2-month of age. Case 4 was followed up to 1 year of age with developmental delay.Conclusions:The main phenotypes of neonatal-onset PMD caused by nuclear gene mutations are hyperlactatemia, refractory metabolic acidosis and cardiomyopathy, which have a poor prognosis. Proactive genetic tests are helpful for early diagnosis.

Objective To investigate the protective effect of artesunate on hypoxic-ischemic brain damage (HIBD) and its mechanism in neonatal rats. Methods 7-day-old neonatal SD rats were randomly divided into sham operation group, model group, artesunate 5 mg/kg group, artesunate 10 mg/kg group, artesunate 20 mg/kg group and dexamethasone 6 mg/kg group, with 18 rats in each group. HIBD models were established in groups except for the sham operation group. The sham operation group only needed to separate the left common carotid artery without ligation and nitrogen-oxygen mixed gas ventilation. Each group was injected with drug intraperitoneally right after surgery and the rats in the sham operation group and the model group were injected with an equal volume of normal saline (once a day for a total of 5 times). One hour after the last injection, the rats in each group were scored for neurological defects. After the rats were sacrificed, the brain water content was measured and the pathological changes of the brain tissues of rats were observed. Terminal-deoxynucleotidyl transferase mediated nick end labeling (TUNEL) was used to detect the neuronal cell apoptosis, and ELISA was applied to detect the levels of IL-1β, IL-6 and TNF-α in brain tissues and peripheral blood of each group of rats. Western blot analysis was adopted to detect the protein expression levels of NLR family pyrin domain containing 3 (NLRP3), apoptosis-associated speck-like protein containing CARD (ASC) and caspase-1 in the rats brain tissues of each group. Results Compared with the model group, the neurological deficit score was decreased; the pathological damage of brain tissues was relieved; the brain water content was significantly reduced; the apoptosis number of hippocampal neurons was decreased significantly; the levels of IL-1β, IL-6 and TNF-α in brain tissues and peripheral blood were significantly reduced; the protein expression levels of NLRP3, ASC and caspase-1 were significantly lowered in the middle-dose and high-dose artesunate groups and the dexamethasone group. Conclusion Artesunate can improve the neurological function, relieve the brain damage, and alleviate the brain edema in neonatal rats with HIBD. It can protect the HIBD, which may be related to the inhibition of NLRP3 inflammasome activation and reduction of inflammatory cytokine secretion.
Animals ; Rats ; Animals, Newborn ; Artesunate/pharmacology* ; Brain/metabolism* ; Caspases/metabolism* ; Dexamethasone ; Hypoxia-Ischemia, Brain/pathology* ; Inflammasomes ; Interleukin-6/metabolism* ; NLR Family, Pyrin Domain-Containing 3 Protein/metabolism* ; Rats, Sprague-Dawley ; Tumor Necrosis Factor-alpha/metabolism* ; Water/metabolism*

【Objective】 To investigate the resource allocation status of blood testing laboratories in 14 blood stations in Gansu Province, explore the impact of differences in basic conditions on the comprehensive testing ability of laboratories, so as to promote the homogenization and standardization of blood screening capacity in blood stations in Gansu and improve blood safety and effectivenes. 【Methods】 An evaluation index system of laboratory resource allocation was constructed and a question-naire was designed. The data of human resources, infrastructure and key equipment of 14 blood stations were collected. The entropy weight -TOPSIS method was used to evaluate and rank the resource allocation of 14 blood stations. 【Results】 In the comprehensive evaluation of blood testing laboratory resource allocation in 14 blood stations in Gansu, the top three were laboratories A, B and I, and the last three were laboratories G, M and J. On the whole, the main issue was unreasonable structure of human resources: most laboratories had unreasonable age structure; except for Laboratory A, there was no personnel with bachelor's degree or above in laboratories; most laboratories had not established a team with intermediate professional titles. In terms of infrastructure, the size of seven laboratories could not meet the needs of modern laboratory testing, and all eight blood stations had no spare nucleic acid laboratories nor a mutual spare laboratory with other blood stations As for the key equipment, 5 laboratories had no automatic blood grouping diagnostic instrument, 5 laboratories only had one set of enzyme immunoassay detection system, 3 laboratories had no spare equipment for the key equipment, which means if the equipment failure could not be repaired in time, the release of results would be affected. 【Conclusion】 There were significant differences in human resources, infrastructure and key equipment of blood testing laboratories in 14 blood stations in Gansu, which had a great impact on laboratory testing capacity and subsequent development. It is suggested that governments at all levels and health administrative departments optimize the input of laboratory resource allocation according to the blood collection volume of blood stations to gradually narrow the differences in resource distribution between different regions, improve the degree of laboratory automation and optimize the personnel structure, so as to build high-quality and efficient blood testing laboratories and ensure the safety of clinical blood use.