The Ly-6 and uPAR (LU) domain-containing proteins represent a large family of cell-surface markers. In particular, mouse Ly-6A/Sca-1 is a widely used marker for various stem cells; however, its human ortholog is missing. In this study, based on a systematic survey and comparative genomic study of mouse and human LU domain-containing proteins, we identified a previously unannotated human gene encoding the candidate ortholog of mouse Ly-6A/Sca-1. This gene, hereby named LY6A, reversely overlaps with a lncRNA gene in the majority of exonic sequences. We found that LY6A is aberrantly expressed in pituitary tumors, but not in normal pituitary tissues, and may contribute to tumorigenesis. Similar to mouse Ly-6A/Sca-1, human LY6A is also upregulated by interferon, suggesting a conserved transcriptional regulatory mechanism between humans and mice. We cloned the full-length LY6A cDNA, whose encoded protein sequence, domain architecture, and exon-intron structures are all well conserved with mouse Ly-6A/Sca-1. Ectopic expression of the LY6A protein in cells demonstrates that it acts the same as mouse Ly-6A/Sca-1 in their processing and glycosylphosphatidylinositol anchoring to the cell membrane. Collectively, these studies unveil a novel human gene encoding a candidate biomarker and provide an interesting model gene for studying gene regulatory and evolutionary mechanisms.
Humans ; Membrane Proteins/genetics* ; Pituitary Neoplasms/genetics* ; Biomarkers

OBJECTIVE: To explore the genetic basis for a Chinese pedigree with a novel ABO subtype. METHODS: The proband and his family members were subjected to serological analysis, and their genotypes were determined by fluorescence PCR and direct sequencing of the coding regions of the ABO gene. Exons 6 to 7 of the ABO gene were also subjected to clone sequencing for haplotype analysis. RESULTS: The proband was determined as an AxB subtype. By fluorescence PCR, he was typed as A/B. Clone sequencing has revealed a insertional mutation c.797_798 insT in exon 7 of the ABO gene, which yielded a novel allele. Pedigree analysis confirmed that the novel ABO*A1.02 allele carried by the proband and his sister was inherited from their father. The c.797_798insT mutation has been submitted to GenBank with an accession number of MK125137. CONCLUSION The c.797_798insT mutation of exon 7 of the ABO gene probably has led to weakened expression of A antigen.
ABO Blood-Group System/genetics* ; Alleles ; China ; Genotype ; Humans ; Male ; Mutation ; N-Acetylgalactosaminyltransferases/genetics* ; Pedigree

OBJECTIVE: To delineate the serological and molecular profiles of a patient with A(w)37B subtype. METHODS: The ABO bloodtypes of the proband, his wife and daughter were determined with a standard serological method. Their ABO genotypes were determined by sequence-specific primer polymerase chain reaction (PCR-SSP). All exons of the ABO gene were directly sequenced. Exons 6 and 7 of the ABO gene were further analyzed by cloning and sequencing. RESULTS: The red blood cells of the proband showed a weak B phenotype. His serum sample contained weak reactive anti-A antibody, which was defined as A(w)B blood group based on the serological characteristics. The A and B alleles were detected by blood group genotyping. Gene cloning and sequencing have identified a characteristic c.940A>G variant (ABO*AW.37) in exon 7 of the ABO gene, which resulted in substitution of Lysine by Glutamate at position 314. The proband's daughter has inherited the ABO*AW.37 allele. CONCLUSION The c.940A>G variant in exon 7 of the ABO gene probably underlay the decreased activity of GTA transferase and resulted in the Aw37 phenotype.
ABO Blood-Group System/genetics* ; Alleles ; Genotype ; Humans ; Pedigree ; Phenotype

Background: Resistance to antibiotics is the major cause for failure of Helicobacter pylori (Hp) eradication therapy. Therefore, exploring new eradication regimen has become a hotspot of research. Aims: To investigate the efficacy, safety and optimal dose of antofloxacin-based bismuth quadruple therapy for first-line Hp eradication. Methods: Four hundred patients with Hp infection and naive to eradication therapy were prospectively recruited from January 2019 to December 2019 at the 900th Hospital of Joint Logistics Support Force, PLA and were randomly divided into four groups: low-, normal-, and high-dose antofloxacin groups and control group, 100 cases in each group. Patients in low-, normal-, and high-dose antofloxacin groups received antofloxacin 100 mg, 200 mg, and 300 mg qd, respectively, pantoprazole 40 mg bid, bismuth potassium citrate 220 mg bid, and amoxicillin 1 000 mg bid for 14 days; patients in control group received levofloxacin 500 mg qd and the other three drugs with same dose and frequency for 14 days. Adverse events during treatment were recorded. Hp eradication was confirmed by

Since the outset of the coronavirus disease 2019(COVID-19)pandemic,the gut micro-biome in COVID-19 has garnered substantial interest,given its significant roles in human health and pathophysiology.Accumulating evidence is unveiling that the gut microbiome is broadly altered in COVID-19,including the bacterial microbiome,mycobiome,and virome.Overall,the gut microbial ecological network is significantly weakened and becomes sparse in patients with COVID-19,together with a decrease in gut microbiome diversity.Beyond the existence of severe acute respiratory syndrome coronavirus type 2(SARS-CoV-2),the gut microbiome of patients with COVID-19 is also characterized by enrichment of opportunistic bacteria,fungi,and eukaryotic viruses,which are also associated with disease severity and presentation.Meanwhile,a multitude of symbiotic bacteria and bacteriophages are decreased in abundance in patients with COVID-19.Such gut microbiome features persist in a significant subset of patients with COVID-19 even after disease resolution,coinciding with'long CO VID'(also known as post-acute sequelae of COVID-19).The broadly-altered gut microbiome is largely a consequence of SARS-CoV-2 infection and its downstream detrimental effects on the systemic host immunity and the gut milieu.The impaired host immunity and distorted gut microbial ecology,particularly loss of low-abundance beneficial bacteria and blooms of opportunistic fungi including Candida,may hinder the reassembly of the gut microbiome post COVID-19.Future investigation is necessary to fully understand the role of the gut microbiome in host immunity against SARS-CoV-2 infection,as well as the long-term effect of COVID-19 on the gut microbiome in relation to the host health after the pandemic.

Purpose: Progressive familial intrahepatic cholestasis (PFIC) is a rare genetic autosomal recessive disease caused by mutations in ATP8B1, ABCB11 or ABCB4. Mutational analysis of these genes is a reliable approach to identify the disorder. Methods: We collected and analyzed relevant data related to clinical diagnosis, biological investigation, and molecular determination in nine children carrying these gene mutations, who were from unrelated families in South China. Results: Of the nine patients (five males, four females) with PFIC, one case of PFIC1, four cases of PFIC2, and four cases of PFIC3 were diagnosed. Except in patient no. 8, jaundice and severe pruritus were the major clinical signs in all forms. γ-glutamyl transpeptidase was low in patients with PFIC1/PFIC2, and remained mildly elevated in patients with PFIC3. We identified 15 different mutations, including nine novel mutations (p.R470HfsX8, p.Q794X and p.I1170T of ABCB11 gene mutations, p.G319R, p.A1047P, p.G1074R, p.T830NfsX11, p.A1047PfsX8 and p.N1048TfsX of ABCB4 gene mutations) and six known mutations (p.G446R and p.F529del of ATP8B1 gene mutations, p.A588V, p.G1004D and p.R1057X of ABCB11 gene mutations, p.P479L of ABCB4 gene mutations). The results showed that compared with other regions, these three types of PFIC genes had different mutational spectrum in China. Conclusion The study expands the genotypic spectrum of PFIC. We identified nine novel mutations of PFIC and our findings could help in the diagnosis and treatment of this disease.

Objective: To investigate the clinical value of gallbladder-preserving cholelithotomy by natural orifice transumbilical endoscopic surgery on patients with cholecystolithiasis. Methods: A retrospective study was performed on data of 15 patients with cholecystolithiasis, who underwent gallbladder-preserving cholelithotomy by natural orifice transumbilical endoscopic surgery from April 2018 to July 2018. The operative data, including situation of operation, operative time, intraoperative hemorrhage, and postoperative complications were recorded. Results: The procedure was performed successfully in all patients with a mean operative time of 108±12 min (ranged from 92-129 min). The intraoperative hemorrhage was 10-30 mL. Eight patients suffered from slight right upper abdominal pain, and 7 patients felt slight pain in umbilical a week after surgery. No fever, incision infection, umbilical hemia, peritonitis, and ascites were reported. The clear-liquid diet was recommended for one day after operation, and postoperative activity was allowed since the second day after operation. All patients were discharged on the fourth or fifth day, and all recovered to their normal life at one week after discharge. Follow-up showed that the scar was small and hidden in umbilical without visible incision after one month. Ultrasonic examination results showed that gallbladder contractile function worked perfectly in four patients and no gallbladder stone was found after three months. Conclusion Gallbladder-preserving cholelithotomy by natural orifice transumbilical endoscopic surgery is a safe and effective option for patients with cholecystolithiasis, provides excellent cosmetic outcomes, and can be appropriately carried out under the strict control of surgical indications.

Objective To discuss effects of different injection methods of nanocarbon tracer on gastrectomy for patients with gastric cancer. Methods Patients, who underwent D2 gastrectomy in Fuzhou General Hospital from January 2014 to December 2015, were randomly divided into group A and group B. The patients in group A were injected with nanocarbon into gastric submucosa of peripheral area of tumor under gastroscope 24 hours before operation. The patients in group B were injected with normal saline firstly, and then injected with nanocarbon. The operations were performed by 5 high qualification physicians and 3 low qualification physicians. The detection of lymph nodes and black stain nodes,detection time,and lymph node metastatic rate were compared between the two groups.Results A total of 248 patients were enrolled in this study,and each group had 124 cases. There was no statistical difference on basic characteristics between the two groups(P>0.05). A total of 2 975 and 3 855 lymph nodes were detected in group A and group B, respectively. The mean number of detected lymph nodes in group A was significantly lower than that of group B(23.9±7.9 VS 31.1±3.6, P=0.00). The rate of black stain nodes in group A was significantly lower than that of group B[71.3%(2 121/2 975)VS 78.1%(3 011/3 855), P= 0.00].There were no statistical differences on lymph node detection time(24.3±5.7 min VS 23.5±6.2 min), tiny lymph node detection rate(33.1% VS 34.9%),and lymph node metastatic rate(27.3% VS 25.8%)between the two groups(P>0.05).In subgroup of low qualification physicians, the number of lymph nodes(16.9± 4.0 VS 30.1±3.7)and the rate of black stain nodes(61.3% VS 77.2%)in group A were significantly lower than those of group B(P<0.05). The corresponding indicators(31.1±3.3 VS 31.5±3.5,76.8% VS 79.0%) had no statistical differences in the subgroup of high qualification physicians(P>0.05). Conclusion For low qualification physicians, injection of normal saline then of nanocarbon into gastric submucosa under gastroscope could improve lymph node and black stain nodes detection rate for patients with gastric cancer on gastrectomy.

OBJECTIVETo demonstrate the clinical applicability of three-dimensional CT angiography by evaluating the anatomic features and variation of inferior mesenteric artery(IMA) and left colic artery(LCA) in order to provide reference to vessel ligation strategy in laparoscopic rectal cancer surgery.

METHODSClinical and image data of 123 patients receiving abdominal multislice CT at The Sixth Affiliated Hospital from 2014 to 2015 were retrospectively analyzed. The images were 3D-reconstructed with computer 3D CT angiography and arterial enhancement phase images were chosen for analysis. Linear distances from IMA root to abdominal aortic bifurcation and from LCA at IMA root level to IMA root were measured. Branch types of IMA, coursing pattern of LCA, and association between LCA and inferior mesenteric vein (IMV) site were summarized.

RESULTSOf 123 cases, 80 were males and 43 were females, mean age was (46.8±16.6) years, body weight was (57.7±10.4) kg, and BMI was (21.3±3.6) kg/m. The average distance from IMA root to abdominal aortic bifurcation was (42.5±7.9) mm, and this distance was closely associated with body weight (OR=4.771, 95%CI: 1.398 to 16.283, P=0.013). Longer distance tended to appear in the heavier patients. LCA and sigmoid artery (SA) originating from same single IMA was found in 61(49.6%) cases; LCA and SA forking at same point in 35(28.5%) cases; LCA and SA coursing together and forking afterwards in 24(19.5%) cases, and LCA disappearing in 3(2.4%) cases. In 71(57.7%) patients, LCA ascended medial to the lateral border of left kidney, while in 16(13.0%) patients, LCA arranged below the inferior border of left kidney. When the LCA site was higher and the distance from LCA to IMA root was closer [distance from LCA to IMA root level was (24.2±9.9) mm, (30.0±15.2) mm and (66.6±12.3) mm, F=83.2, P<0.001]. At the level of IMA root, LCA located medial to IMV in 21(17.1%) cases, located just lateral to IMV in 54(43.9%) cases, and located lateral and ascended far away from IMV in 48(39.0%) cases.

CONCLUSION3D-CT angiography is non-invasive, efficient and accurate in evaluating coursing features and variation of IMA and its branches, which can provide important reference to the surgeons, promising laparoscopic surgery smooth and safe.

Objective To study the characteristics of work disability and its influencing factors in patients with ankylosing spondylitis (AS). Methods The demographic data, work conditons and disease related characteristics of 277 patients with AS were recorded, and randomly selected from the Department of Rheumatology, Chinese PLA General Hospital from November 2014 to January 2016. Work and productivity activity impair-ment questionnaire (WPAI) was used to survey the work disability and productivity loss, then explore its in-fluencing factors and the relationships between patient-reported outcomes and WPAI scores. Logistic regression was used to analyze the associated factors of work disability. Multivariate linear regression was used to analyze the predictive factors of lose of work productivity. Results The prevalence of work disability was 30.3%. Twenty patients were unemployed because of working disability. Two hudreds patients were employed, with average 36.5 (24.0, 50.0) hours workingtime in the past week. Average AS related absenteeism was 4.4 (0, 10) hour. Average workproductivity loss was 26.4%(2.5%, 40.0%). Logistic multiple regression analysis showed that Bath AS disease activity index (BASDAI), SF-36 physical component summary (PCS) scores might be the important influencing factors among those clinical measures ( OR=1.270, 0.959). Presenteeism and overall work impairment were moderately correlated with patients' global assessment of disease activity (VAS), BASDAI, bath AS functional index (BASFI), SF-36 physical Functioning (PF), SF-36 body pain (BP) and SF-36 Physical Component Summary (PCS) (|r|=0.539-0.648). Linear multivariate analyses indicated that work presente-eismand absenteeismwere significantly associated with BASDAI (P<0.01). Conclusion High prevalence of work disability in patients with AS is noted, which is closely related with disease activity and body function;High attention should be paid to AS patients with work disability.