Objective To reduce the misdiagnosis rate of spondyloarthritis (SPA) by reviewing the rare cases misdiagnosed as SpA.Methods Cases misdiaguosed as SpA were collected from our hospital from January 2004 to April 2014.Reported cases among Chinese journals from January 1998 to October,2014 were also collected.According to the Assessment of Spondylo Arthritis international Society (ASAS) axial SpA criteria (2009) and peripheral SpA criteria (2011),the diagnostic accordance rate was studied.Results There were 112 cases within the objective scope,out of which,27 cases (24.1％) were infectious diseases,47 cases (42.0％) were heredity and metabolic diseases,25 cases (22.3％) were hematonosis or tumor,13 cases (11.6％) were osteoarthropathies.Also,only 10 cases (8.9％) out of 112 had the symptoms of inflammatory back pain (IBP),23 cases (20.5％) exhibited fever.Human leukocyte antigen (HLA)-B27 was positive in 20.4％ (21/103) of the cases.Eleven cases out of those 29 cases performed X-ray in the sacroiliac joint and showed blurred articular surface,narrowing of joint space or bone destruction.Four cases were diagnosed based on magnetic resonance imaging (MRI).18/91 (19.8％) cases met the criteria of ASAS axial SpA criteria (2009),2/6(33.3％) cases were in accordance to the ASAS peripheral SpA criteria (2011).Conclusion For patients with atypical back pain,if accompanied with fever,other diseases such as tumor,infection,heredity and metabolic diseases should be considered.The diagnosis should not only based on HLA-B27 for SpA diagnosis.Due to the ambiguity of X-ray in sacroiliac joint,CT or MRI may be recommended to assist the diagnosis.Careful clinical history taken is also with great significance.

Trace impurities of Al, Ca, Co, Fe, K, Mg, Mn, Na, Ni in silicon nitride powder were determined by slurry introduction into a solution-cathode glow discharge-atomic emission spectrometer (SCGD-AES).The effect of particle size on the stability of suspension was investigated.A 6-port valve was selected to link sampling system and SCGD-AES, by which the suspension could be introduced into the SCGD-AES to get instantaneous spectrum signal.The calibration curves for quantitative analysis could be established using aqueous standards and the pH of suspension was not required to be adjusted accurately.The applied voltage, solution flow rate, and integral time of PMT were set to 1080 V, 1.2 mL/min and 800 ms, respectively.In this work, slurry sampling was combined with SCGD-AES by a 6 port 2-pos valve.Powder Si3N4 was tested by this way and the limits of detection for all nine elements were 0.2-53.0 mg/kg.The RSDs were 1.1%-5.0%.The detection result of trace impurities in standard reference material ERM-ED101 agreed with that obtained from inductively coupled plasma atomic emission spectrometry.This method was proved to be accurate, reliable and valuable.

Objective T o establish a query table of IB S critical value and identification pow er for the detection system s w ith different num bers of ST R loci under different false judgm ent standards. Methods Sam ples of 267 pairs of full siblings and 360 pairs of unrelated individuals w ere collected and 19 auto-som al ST R loci w ere genotyped by G oldeneyeTM 20A system . T he full siblings w ere determ ined using IB S scoring m ethod according to the 'R egulation for biological full sibling testing'. T he critical values and identification pow er for the detection system s w ith different num bers of ST R loci under different false judgm ent standards w ere calculated by theoretical m ethods. Results A ccording to the form al IB S scoring criteria, the identification pow er of full siblings and unrelated individuals w as 0.7640 and the rate of false judgm ent w as 0. T he results of theoretical calculation w ere consistent w ith that of sam ple observation. T he query table of IB S critical value for identification of full sibling detection system s w ith different num bers of ST R loci w as successfully established. Conclusion T he IB S scoring m ethod defined by the regulation has high detection efficiency and low false judgm ent rate, w hich provides a relatively conservative result. T he query table of IB S critical value for identification of full sibling detection sys-tem s w ith different num bers of ST R loci provides an im portant reference data for the result judgm ent of full sibling testing and ow ns a considerable practical value.

Objective To explore the mutation of Y-STR loci in meiotic allelic transmission in a large pedigree. Methods The oral swabs of 163 male individuals were collected froma L in pedigree. Twenty-two Y-STR genetic markers were typed with AGCUY 24 fluorescent detection kit (AGCUY 24 sys-tem), which also contained 16 Y-STR markers included in Y filerTmmultiple amplification kit (Y filer system). The genotyping results of Y-STR loci were compared between each two males in the pedigree. Results There were 20 and 30 kinds of haplotypes obtained with Y filer and AGCUY 24 systems in 163 male individuals fromthe L in pedigree, respectively. The rates referred to haplotype differences (RRHD) of these two typing systems between male pairs were 0.910 5 and 0.922 7, respectively. The average number of marker differences were 6.582 1 and 9.824 8, respectively. The RRHDincreased along with the incidents of meiosis. Conclusion Y-STR mutation leads to different Y-STR haplotypes among the male members in a paternal pedigree and the rate of difference increases along with the incidents of meiosis.

Objective To investigate the genetic polymorphism of 90 autosomal SNPs in Guangdong Han population and assess their value in forensic medicine based on next generation sequencing. Methods Blood samples were collected from 100 unrelated individuals. Through using AutoMate ExpressTM Nucleic Acid Extraction System, DNA was extracted. HID-Ion AmpliSeq? Identity Panel was applied for library preparation while Ion OneTouch? 2 system (OT2) was employed for emulsion PCR (emPCR). NGS was performed on the Ion PGM? system. Sequencing results were analysed using the Torrent Suite v4.4.2 with the HID_SNP_Genotyper v4.3.1 plugin. The forensic parameters were calculated and compared with GoldeneyeTM 20A systems. Results According to the Bonferroni correction, the genotypes of 90 autosomal SNPs were in accordance with Hardy-Weinberg equilibrium and no linkage disequilibrium was observed. The average Ho of 90 autosomal SNPs was 0.423, the average DP was 0.560 and the average PIC was 0.329. The CDP (cumulative power of discrimination) of 90 autosomal SNPs system was 1-1.20×10-33, which was greater than that of 20A System. The CPEtri (cumulative excluding probability of trio paternity) was 0.999 999 911 and the CPEduo (cumulative excluding probability of duo paternity) was 0.999 882. Both of these two parameters were below that of 20A System. Conclusion It suggested that the 90 autosomal SNPs System can be applied to forensic individual discrimination and trio paternity testing independently. Besides, it is supposed to be used in the duo paternity testing as an assistant measure.

The incidence rate of thyroid cancer and thyroid nodule in China are rising and surgical operation is the main treatment for thyroid nodule and thyroid carcinoma.It has been controversial whether thyroid surgery is suitable for day surgery.Perfect preoperative examination and anesthesia assessment,selection of an appropriate of patients and minimally invasive surgery,good postoperative analgesia and the prevention and treatment of postoperative nausea and vomiting,recognition and treatment of postoperative complications timely,postoperative follow-up,can ensure safety of patient with thyroid ambulatory surgery,and made the same medical quality as the surgery in hospital.Under certain criteria,thyroid ambulatory surgery is safety,high efficient,economy and time-efficient.It is a reasonable surgical management mode which can reduce days of hospitalization and hospitalization cost.But it still need further study on the inclusion and exclusion criteria of patients,anesthesia techniques and perioperative management.

Objective:To investigate the clinical characteristics, diagnosis and treatment status, and existing problems of early infantile epileptic encephalopathy type 2 (EIEE2) caused by de novoa mutation of cyclin-dependent kinase-like 5 gene (CDKL5).Methods:The medical history, auxiliary examination and diagnosis and treatment characteristics of 1 case with EIEE2 caused by de novoa mutation of CDKL5 gene in neonatal department of Children′s Hospital of Nanjing Medical University on August 12, 2019 were retrospectively analyzed.Combined with relevant literatures, the clinical diagnosis and treatment ideas and future prospects of this disease were summarized.Results:The patient was a female child with the age of 13 days and 23 hours.The main clinical manifestation was recurrent convulsion which was not alleviated significantly after using antiepileptic drug.The second-generation sequencing detected c. 119C>T/ p. A40V heterozygous mutation of CDKL5 gene, which was de novo mutation.Conclusions:EIEE2 caused by de novoa mutation of CDKL5 gene is a rare disease worthy of attention.Early detection and genetic diagnosis are the key to improve the diagnosis and treatment rate.

Autoimmune pancreatitis (AIP) is an autoimmune-mediated abnormal chronic inflammatory disorder and is often misdiagnosed as pancreatic neoplastic lesions. With in-depth studies of this disease in recent years, it has been taken seriously by hepatobiliary physicians and surgeons. This article summarizes the clinical features, diagnostic criteria, and treatment methods for autoimmune pancreatitis at the present stage, so as to provide clinicians with diagnosis and treatment experience to reduce clinical misdiagnosis.

Objective:To study the changes of plasma receptor interacting protein 3 (RIP3) levels in neonatal late-onset sepsis (LOS) and to determine its clinical value.Methods:From October 2019 to April 2021, plasma samples and clinical data of LOS infants admitted to our hospital were prospectively studied. Infants with similar gestational ages admitted for non-infectious diseases were assigned into the control group. Enzyme-linked immunoassay was used to determine plasma RIP3 levels. The clinical value of plasma RIP3 in the diagnosis and treatment of neonatal LOS were analyzed.Results:A total of 152 cases (76 in the LOS group and 76 in the control group) were included in the study. No significant differences existed in the baseline data between the two groups. A total of 226 plasma samples were collected (76 samples from the LOS group before treatment, 74 samples after treatment and 76 samples from the control group). The plasma RIP3 level of LOS group before treatment (19.9±6.3 ng/ml) was significantly higher than the control group (11.4±3.5 ng/ml) and the after treatment group (11.9±3.5 ng/ml) ( P<0.05). The plasma RIP3 level had good diagnostic value for neonatal LOS (AUC=0.884). With cut-off value of 15.5 ng/ml, the plasma RIP3 showed the best diagnostic efficacy (Youden index 0.658, sensitivity 72.4%, specificity 93.4%, positive likelihood ratio 11.0, negative likelihood ratio 0.3). Conclusions:Plasma RIP3 level is closely related with neonatal LOS and may be used for the early diagnosis and therapeutic evaluation of neonatal LOS.

Objective: To establish a labeling method for bacterial outer membrane vesicle (OMV) based on luciferase reporting gene. Methods: By utilizing the characteristics that high abundance of outer membrane protein A (OmpA) presented on the surface of bacterial OMV, the outer membrane protein-luciferase fusion protein was constructed to position the luciferase on the surface of the outer membrane vesicle, and the number of bacterial OMV was evaluated based on the luciferase activity. Results: The OmpA-NanoLuc fusion protein expression vector was constructed successfully, and the outer membrane vesicles secreted by the subject strains after the expression of the fusion protein displayed stable luciferase activity. The number of bacterial outer membrane vesicles was semi-quantitative detrmined by measuring the activity of fluorescein enzyme. Conclusion A semi-quantitative method based on luciferase labeling was developed for the detection of extracellular vesicles, which could be used to evaluate the secretion level of specific strains.