Changes in IL-2/IL-2R system in 25 patients with thyrotoxic Graves disease and 20 eu-thyroids were investigated and compared with those of 15 normal controls. The thyrotoxic patients showed a high concentration of serum sIL-2R and a large amount of circulating IL-2R-?- cells but a decreased production of IL-2 by PBMC. However, these abnormalities had a tendency to become normal with improvement of the disease. The IL-2 was correlated with the percentage of IL-2R-?- cells and sIL-2R. This study may provide clues to the im-munopathogenesis in Graves Disease.

OBJECTIVE:To study the pharmacokinetics of the active ingredients of Shenmai injection,including ginsenoside Rg1 and ginsenoside Re,in normal Beagle dogs and those with myocardial ischemia. METHODS:6 Beagle dogs were given isopro-terenol hydrochloride (1.1 mg/kg) sc to establish the model of myocardial ischemia (model group). Another 6 Beagle dogs were given isometric normal saline (2.2 ml/kg) sc as controls group. The two groups of dogs respectively received corresponding drugs sc at 8:00 am and 13:00 pm on day 1 and at 8:00 am on day 2. Each group of dogs were given Shenmai injection(1.6 ml/kg)iv 1 h after administration on day 2,and such intravenous drip lasted for about 1 h. Blood was collected from each group 0,0.25, 0.5,0.75,1(the end of iv),1.5,2,3,4,6,8,12 and 24 h from the start of iv. Liquid chromatography-mass spectrometry was adopted to determine the concentrations of ginsenoside Rg1 and ginsenoside Re in blood,and WinNonlin 6.3 was used to calculate pharmacokinetic parameters for comparison. RESULTS:For ginsenoside Re in the dogs of the model group,t1/2 was(2.69±1.12) h,AUC0-24 h was(2 060.78±812.18)h·μg/L,Vz was(46.16±20.98)ml and CL was(9.02±4.45)ml/h;compared to the normal control group,AUC0-24 h was much greater and Vz and CL were significantly lower,showing a statistically significant difference(P<0.05). No significant difference in the pharmacokinetic parameters of ginsenoside Rg1 was shown between 2 groups(P>0.05). CON-CLUSIONS:Myocardial ischemia may affect the removal of ginsenoside Re in Beagle dogs,but has no effect on the pharmacoki-netic process of ginsenoside Rg1.

OBJECTIVETo explore the pathogenesis of a child with growth retardation, liver damage and congenital heart disease.

METHODSG-banded chromosomal karyotyping, high-throughput next-generation sequencing (HT-NGS)and fluorescence in situ hybridization(FISH) were used to characterize the structural chromosomal aberration.

RESULTSThe child was found to have a karyotype of 46, XX, t(1;2) (q25;q21), t(7;20) (q21;p13). HT-NGS has detected a microdeletion at 2q21.3 and 7q21.11, respectively, which were verified by FISH.

CONCLUSIONCombined cytogenetic and molecular analysis can detect chromosome micrdeletions more precisely. The abnormalities of the child may be attributed to heterozygous deletion of ZEB2, ABCB4 and SEMA3A genes.

Chromosome Aberrations ; Chromosome Banding ; methods ; Female ; Heart Defects, Congenital ; genetics ; Humans ; Infant ; Intellectual Disability ; genetics ; Karyotyping ; methods ; Liver Diseases ; genetics

To investigate the clinical features, genetic diagnosis, and treatment of a patient with Prader-Willi syndrome(PWS). For a case with clinically suspected PWS, methylation specific PCR(MSPCR)amplification was applied to CpG islands of SNRPN(exon α)gene locus in the 15q11-q13. Furthermore, the diagnosis was comfirmed by the method of bisulfite sequencing PCR(BSPCR). Metabolic status before and after the operation of sleeve gastrectomy were compared. Absence of amplification of paternal allele on chromosome 15q11-q13 was detected in the case by MSPCR, different from the normal control. Results of BSPCR further proved a full methylation of CpG islands in the SNRPN gene locus. Four months after sleeve gastrectomy, systemic metabolic status and ventricular function were improved. MSPCR and BSPCR were both consistent with genetic diagnosis of PWS. Weight loss surgery is expected to be a major therapy of this disease.

Objective To analyze CYP17A1 gene mutation in a patient with 46,XY disordered sex development and to explore the possible influence on the phenotype of the patient.Methods Eight exons of CYP17AI gene in the patient and her parents were amplified and directly sequenced.In order to construct Mini-gene system,PCR fragments containing wildtype and mutant splicing sites were inserted in expression vector,and then transfected into cells.RT-PCR was used to observe the influence of splicing site mutation.Wildtype and aberrant splicing CYP17A1 cDNA expression plasmids were constructed and transfected into cells respectively,and CYP17A1 enzyme activity was tested in vitro.Results Mutation analysis revealed compound heterozygous CYP17A1 mutations,with Y329fs in one allele and a synonymous substitution( c.1263G＞A:GCG＞GCA) in another allele.In vitro analysis showed that the synonymous substitution induced a novel splicing site,which resulted in aberrant splicing of CYP17A1 mRNA and lacked six or seven amino acids after 415 in splicing product.In vitro transfection and enzyme activity experiment showed that the aberrant splicing product abolished the enzyme activity completely.However,this mutation did not completely influence splicing.The patient also had a part of normal splicing product,which was a coincidence to the phenotype of the patient.Conclusion This is the first description of an exonic splicing mutation in CYP17A1 relevant to the 17ot-hydroxylase deficiency phenotype.The functional study of the aberrant splicing variant has been initiated.

Many factors contribute to a successful total knee arthroplasty, and postoperative coronal lower limb alignment has always been a focus of joint surgeons. Previous researches have suggested that neutral alignment can bring higher prosthesis survival rate and better knee function. However, the theory has been challenged in recent years.In this article, the author introduces the axis, alignment and osteotomy of total knee arthroplasty briefly and reviews the studies on the neutral alignment and kinematic alignment of recent years in order to provide some advice for the clinical operation.

Objective: To perform an epidemiological survey of the first case with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in Pinghu City of Jiaxing City, Zhejiang Province on March 13, 2022, so as to provide insights into the management of coronavirus disease (COVID-19) epidemics. Methods: According to the requirements of the Protocol on Prevention and Control of COVID-19 (8th Edition), epidemiological investigations were performed among 39 cases with SARS-CoV-2 infections in Pinghu City from March 13 to 20, 2022. Cases' demographics, clinical symptoms, history of immunization and exposure were collected, and close contacts were identified. Pharyngeal swabs were sampled from infected cases for detection of SARS-CoV-2 nucleic acid and whole-genome sequencing, and the source of infection and transmission route were investigated. Results: The index case for this COVID-19 epidemic was an imported case from Shanghai Municipality, who infected 6 persons via aerosol transmission when playing in the badminton venue of Pinghu National Fitness Center on March 9; subsequently, one of these infected cases infected another 18 persons when playing in the badminton venue of Jiadian Village Resident's Fitness Center in Zhapu Township on March 12. Sixteen confirmed cases were reported, and all cases were mild; another 23 asymptomatic cases were diagnosed, with no death reported. This epidemic occurred from March 11 to 20, with 3 generations of spread and a median incubation period of 3 days. The SARS-CoV-2 infected cases had a median age of 33.5 (interquartile range, 12.0) years and included 36 cases with a history of COVID-19 vaccination. There were 16 cases with fever, cough, runny nose and sore throat, and 13 cases with imaging features of pneumonia. The effective reproductive number (Rt) of the COVID-19 epidemic was 7.73 at early stage, and was less than 1 since March 21. Whole-genome sequencing identified Omicron BA.2 variant among 33 cases, which had high homology with the index cases. Conclusion This epidemic was a cluster of COVID-19 caused by imported Omicron BA.2 variant infection from Shanghai Municipality, and the COVID-19 transmission was mainly caused by indoor aerosols.