Objective To investigate the plasma level of free radicals and antioxidative activity in elderly patients with type 2 diabetes mellitus and relation to microvascular complication. Methods The concentration of erythrocyte lipoperoxides(LPO), plasma vitamin E(VE), plasma vitamin C(VC), plasma betacarotene(? CAR), whole blood glutathione(GSH) and the activity of erythrocyte superoxide dismutase(SOD), erythrocyte catalase (CAT), erythrocyte glutathione peroxidase(GSH PX) in 65 elderly patients with type 2 diabetes and 65 healthy patients were measured. Meanwhile, fasting glucose, 2 hours post meal glucose, glycated hemoglobin, fasting and post meal C peptide, triglycerides, cholesterol, urine albumin excretion rate, electromyogram were measured. Results Compared with the healthy patients, the average value of LPO(42 97?6 99)nmol/g and (31 59?7 44)nmol/g, VC (40 98?10 51)?mol/L and (52 23?10 51)?mol/L, VE (16 44?2 45)?mol/L and (23 04?5 38)?mol/L, ? CAR (1 19?0 23)?mol/L and (1 63?0 40)?mol/L and GSH(0 98?0 16 vs 1 25?0 20) in elderly patients with type 2 diabetes were significantly increased, while the activities of SOD(1712 44?157 04)U/L and (1 928 38?143 44)U/L, CAT(217 01?29 36)?g/g vs (264 40?63 55)?g/g, GSH PX(21 01?3 38)?10 -10 U/RBC vs (25 16?6 41)?10 -10 U/RBC were obviously decreased. The change was more obvious in the patients with microvascular complication compared with those without microvascular complication. Plasma level of LPO were correlated positively with age(r=0 310, P

Objective To investigate the olfactory function in patients with systemic lupus erythematosus (SLE) and to explore factors that may influence it.Methods The Connecticut Chemosensory Clinical Research Center (CCCRC) test was carried out in SLE patients and healthy controls for olfactory function testing.ELISA method was used to detect anti-ribosomal P protein antibody in the serum.The statistical methods used in this study including t test,ANOVA,LSD-t test,Pearson correlation analysis,multiple linear regression analysis,andx2 test.Results ① The CCCRC scores of the active,inactive group and healthy controls were compared,the difference was statistical significant (F=26.52,P=0.01).CCCRC score in active SLE group (62±16) was lower than that of the inactive group (80±13) the and the normal control group (83±12) (P＜0.01),while there was no statistical significant difference between the inactive group and the normal controls (P=0.226).② CCCRC score was lower in 16 ARPA positive SLE patients (61±17) than 49 negative patients (74±16) (t=2.681,P=0.009).③ In addition,CCCRC score showed a negative correlation with ARPA serum concentration (r=-0.327,P=0.008).There was no significant correlation between CCCRC score and disease course (r=0.141,P＞0.05).④ Multiple linear regression analysis indicated that CCCRC score was associated with age and ARPA.Conclusion SLE patients have olfactory dysfunction and the dys-function is associated with age and ARPA.

Objective To explore the sensitivity of using NT,combined with serum biochemical markers (Free-βhCG,PAPP-A) for Down's Syndrome screening in early stage of pregnancy.Methods Collect pregnant women aged 17-45 years old voluntary antenatal screening in our hospital from March 2009to October 2010,a total of 11882 cases.Serum Free-βhCG and PAPP-A were measured NT value was determined by ultrasound at 11-13w+64 of gestation.Calculating combined screening (NT,Free-βhCG,PAPP-A),and serum integrated screening (Free-beta hCG,PAPP-A) risk,respectively,using the risk calculation software for the same person.Results Early pregnancy screening was performed in 11 882patients,18 had a fetus with Down's syndrome,a rate of 0.15％.The detection rates of Down's syndrome in combined screening and serum integrated screening were 83.3％ and 72.2％ respectively.The specificities were 98.4％ and 97.3％ and detection efficiency were 7.18％,3.90％ respectively.Areas under the curve (AUCs) of fhst-trimester combined screening and serum integrated screening were 0.975 (95％ CI:0.943,1.007),0.901 (95％ CI:0.789,1.013) respectively.Conclusion In early stage of pregnancy,combined screening for Down's syndrome has higher sensitivity and specificity than serological screening,has higher detection rate in the same false-positive rate case,which can effectively reduce the pregnant women to receive invasive puncture.

Objective Thymoma is associated with autoimmune diseases. We retrospectively analyzed the clinical characteristics of thymoma complicated systemic lupus erythematosus (SLE). Methods Patients were from Qilu Hospital Shandong University between June 2004 and June 2014, and satisfied classification criteria of American College of Rheumatology (ACR) classification criteria 1997 for SLE. Thymoma was diagnosed by chest CT scan. Results Nine cases were of thymoma complicated with SLE, with the male:female ratio of 1∶8. The age of SLE onset was (48±19) years, age of thymoma discovery was (47±19) years. The follow-up period was 3 to 10 years. Three cases (33%) were benign thymoma and underwent thymectomy and verified by histopa-thology test. One case presented thymoma 9 years after SLE, 5 cases (56%) presented SLE and thymoma simultaneously, 3 cases (33%) presented SLE after thymectomy. Clinical manifestations of SLE included 4(44%) skin lesions, 8(89%) polyarthritis, 5(56%) nephritis, 3(33%) leukocytopenia, 3(33%) throm-bocytopenia, 2 (22%) of interstitial pneumonia, 4 (44%) pleural effusion, no neuropsychiatric systemic lupus erythematosus. Nine cases (100%) were ANA positive, 7 (78%) were anti-dsDNA positive. Conclusion SLE complicated thymoma usually occurs in relatively older age, tend to present with multi-systemic presentations, and high percentage of anti-dsDNA positivity.

OBJECTIVETo explore the origin of a supernumerary small marker chromosome (sSMC) in a fetus, and to assess the feasibility of single nucleotide polymorphism array (SNP-array) for prenatal diagnosis.

METHODSThe fetal sample was subjected to karyotyping analysis. The identified sSMC was subjected to genome-wide scan using a SNP microarray chip. The results were validated with fluorescence in situ hybridization (FISH).

RESULTSThe karyotype of the fetus was determined as 47,XX,+mar, which was verified by SNP microarray chip analysis as a 34.6 Mb duplication in 12p13.33p11.1. FISH analysis confirmed that the sSMC has originated from chromosome 12p.

CONCLUSIONThe karyotype of the fetus was determined as 47,XX,+i(12)(p10). Tetrasomy 12p is reported to be a marker for Pallister-Killian syndrome, which may result in multi-system anomalies. SNP-array analysis can simultaneously detect microdeletions and microduplications, which may be used for prenatal diagnosis of suspected cases.

Adult ; Chromosome Aberrations ; Chromosome Banding ; Chromosome Disorders ; diagnostic imaging ; embryology ; genetics ; Chromosomes, Human, Pair 12 ; genetics ; Female ; Fetus ; abnormalities ; diagnostic imaging ; metabolism ; Genome-Wide Association Study ; methods ; Humans ; In Situ Hybridization, Fluorescence ; Karyotype ; Karyotyping ; Oligonucleotide Array Sequence Analysis ; methods ; Polymorphism, Single Nucleotide ; Pregnancy ; Ultrasonography, Prenatal ; methods

Objective:To explore the real experience and feelings of the medical and nursing staff in the Emergency Department of general hospitals in receiving patients with mental disorders, so as to provide reference for formulating corresponding interventions.Methods:From October to November 2021, a semi-structured in-depth interview was conducted with 16 Emergency Department medical and nursing staff from two Class Ⅲ general hospitals in Nanjing by objective sampling. Colaizzi method was used to analyze the data.Results:After analyzing the interview data, three themes were extracted, namely, the emotional experience in treating and nursing patients with mental disorders, the barriers to providing the best management for patients with mental disorders (barriers at the environment/resource level, barriers at the emergency medical and nursing staff level, and barriers at the patient level) , and the educational needs of receiving patients with mental disorders (improving disease awareness and mental health service ability, and changing the way of thinking) .Conclusions:The medical and nursing staff in the Emergency Department of general hospitals have different degrees of negative emotions when receiving patients with mental disorders. There are insufficient knowledge and ability and a series of barriers when providing mental health services for patients. Managers should take various measures to improve the physical and mental health of patients with mental disorders in Emergency Department.

OBJECTIVE: To explore the genetic basis for a patient with syndromic hearing loss. METHODS: Genomic DNA of the patient was extracted, for which 127 deafness-related genes were enriched with a chip. Following next generation sequencing, pathogenic loci in exonic regions were analyzed through comparison against the databases. Genotype of her fetus for the suspected site was determined by testing the amniotic fluid sample. qPCR method was applied to verify the deletion of a large fragment. RESULTS: The proband was diagnosed with Waardenburg syndrome type 2, and had harbored a novel heterozygous deletion of the exons 3 and 4 of the SOX10 gene. Her fetus was found to carry the same deletion and presented with blue eyes and deafness after birth. CONCLUSION Waardenburg syndrome type 2 due to SOX10 gene deletion may feature autosomal dominant inheritance with incomplete penetrance. The deletion of exons 3 and 4 of the SOX10 gene probably underlies the disease in this family.
Eye Color ; Female ; Hearing Loss ; Humans ; Mutation ; Pedigree ; Pregnancy ; Prenatal Diagnosis ; SOXE Transcription Factors ; genetics ; Waardenburg Syndrome