1.Clinical and imaging manifestations of disseminated nontuberculous mycobacteria disease involved multiple skeletons of non-HIV-infected patients
Xiaojian WEN ; Jie LING ; Quhua YIN
Chinese Journal of Medical Imaging Technology 2025;41(10):1715-1719
Objective To observe the clinical and imaging manifestations of disseminated nontuberculosis mycobacteria(NTM)disease involved multiple skeletons of non-HIV-infected patients.Methods Totally 11 cases of non-HIV-infected patients with disseminated NTM involved multiple skeletons(NTM group)and 30 patients of bone tuberculosis with multisite skeletal involvement(TB group)were retrospectively analyzed.Clinical and imaging manifestations were analyzed and compared between groups.Results Nine cases(9/11,81.82%)in NTM group were found with systemic underlying disease,including 5 cases of chronic anemia,4 cases of rheumatic immune diseases and 1 case of gout.NTM group had longer disease duration,lower incidence of fever and soft tissue masses,lower hemoglobin and higher erythrocyte sedimentation rate than TB group(all P<0.05).NTM group exhibited higher incidences of pulmonary patchy/linear shadows,"skip-like"manifestations in spine and patchy/nodular high-density shadows in the affected bones,but lower incidences of pulmonary hematogenous/bronchial dissemination foci,polymorphic lung lesions and bone destruction with sequestrum/surrounding soft tissue abscesses than TB group(all P<0.05).The thoracic vertebrae,shoulder joints and pelvis were most commonly affected in NTM group,while the thoracic and lumbar vertebrae were most commonly affected in TB group.Significant difference of skeletal involvement site was found between groups(P=0.035).After drug treatment,the conditions of 9 cases(9/11,81.82%)in NTM group improved,with better outcomes in bone destruction and surrounding soft tissue swelling,and bone hardening was more obvious than before.Conclusion Disseminated NTM disease involved multiple skeletons in non-HIV-infected patients was prone to secondarily develop in those with chronic anemia and rheumatologic immune diseases,characterized by prolonged disease duration and mild pulmonary manifestations,often revealed multiple skeletons destruction in thoracic spine,shoulder joints and pelvis,distributed in a"skip-like"pattern,with or without bone sclerosis and adjacent soft tissue swelling.
2.Clinical and imaging manifestations of disseminated nontuberculous mycobacteria disease involved multiple skeletons of non-HIV-infected patients
Xiaojian WEN ; Jie LING ; Quhua YIN
Chinese Journal of Medical Imaging Technology 2025;41(10):1715-1719
Objective To observe the clinical and imaging manifestations of disseminated nontuberculosis mycobacteria(NTM)disease involved multiple skeletons of non-HIV-infected patients.Methods Totally 11 cases of non-HIV-infected patients with disseminated NTM involved multiple skeletons(NTM group)and 30 patients of bone tuberculosis with multisite skeletal involvement(TB group)were retrospectively analyzed.Clinical and imaging manifestations were analyzed and compared between groups.Results Nine cases(9/11,81.82%)in NTM group were found with systemic underlying disease,including 5 cases of chronic anemia,4 cases of rheumatic immune diseases and 1 case of gout.NTM group had longer disease duration,lower incidence of fever and soft tissue masses,lower hemoglobin and higher erythrocyte sedimentation rate than TB group(all P<0.05).NTM group exhibited higher incidences of pulmonary patchy/linear shadows,"skip-like"manifestations in spine and patchy/nodular high-density shadows in the affected bones,but lower incidences of pulmonary hematogenous/bronchial dissemination foci,polymorphic lung lesions and bone destruction with sequestrum/surrounding soft tissue abscesses than TB group(all P<0.05).The thoracic vertebrae,shoulder joints and pelvis were most commonly affected in NTM group,while the thoracic and lumbar vertebrae were most commonly affected in TB group.Significant difference of skeletal involvement site was found between groups(P=0.035).After drug treatment,the conditions of 9 cases(9/11,81.82%)in NTM group improved,with better outcomes in bone destruction and surrounding soft tissue swelling,and bone hardening was more obvious than before.Conclusion Disseminated NTM disease involved multiple skeletons in non-HIV-infected patients was prone to secondarily develop in those with chronic anemia and rheumatologic immune diseases,characterized by prolonged disease duration and mild pulmonary manifestations,often revealed multiple skeletons destruction in thoracic spine,shoulder joints and pelvis,distributed in a"skip-like"pattern,with or without bone sclerosis and adjacent soft tissue swelling.
3.A systematic survey of LU domain-containing proteins reveals a novel human gene, LY6A, which encodes the candidate ortholog of mouse Ly-6A/Sca-1 and is aberrantly expressed in pituitary tumors.
Dan LIU ; Chunhui XU ; Yanting LIU ; Wen OUYANG ; Shaojian LIN ; Aining XU ; Yuanliang ZHANG ; Yinyin XIE ; Qiuhua HUANG ; Weili ZHAO ; Zhu CHEN ; Lan WANG ; Saijuan CHEN ; Jinyan HUANG ; Zhe Bao WU ; Xiaojian SUN
Frontiers of Medicine 2023;17(3):458-475
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
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Membrane Proteins/genetics*
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Pituitary Neoplasms/genetics*
;
Biomarkers
4.Study of a Chinese pedigree carrying a novel variant of α-1, 3-N-acetyl galactosaminyl transferase gene.
Wen WU ; Xiaojian LI ; Xingying GUO ; Xiangyan HUANG
Chinese Journal of Medical Genetics 2021;38(2):178-180
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*
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Alleles
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China
;
Genotype
;
Humans
;
Male
;
Mutation
;
N-Acetylgalactosaminyltransferases/genetics*
;
Pedigree
5.Identification and pedigree analysis for an A(W)37B subtype due to c.940A>G variant of ABO gene.
Xiaojian LI ; Xiangyan HUANG ; Wen WU ; Xingying GUO
Chinese Journal of Medical Genetics 2021;38(5):496-498
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
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Genotype
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Humans
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Pedigree
;
Phenotype
6. Antofloxacin-based Bismuth Quadruple Therapy for Helicobacter pylori Eradication
Wulian LIN ; Xiaojian HE ; Haitao LI ; Zhijian ZHANG ; Guanpo ZHANG ; Dazhou LI ; Wen WANG
Chinese Journal of Gastroenterology 2021;26(2):71-75
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
7.Gut Microbiome Alterations in COVID-19
Zuo TAO ; Wu XIAOJIAN ; Wen WEIPING ; Lan PING
Genomics, Proteomics & Bioinformatics 2021;19(5):679-688
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.
8.Phenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South China
Wen ZHANG ; Ruizhu LIN ; Zhikun LU ; Huiying SHENG ; Yi XU ; Xiuzhen LI ; Jing CHENG ; Yanna CAI ; Xiaojian MAO ; Li LIU
Pediatric Gastroenterology, Hepatology & Nutrition 2020;23(6):558-566
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.
9. Clinical value of gallbladder-preserving cholelithotomy by natural orifice transumbilical endoscopic surgery
Xiaojian HE ; Dazhou LI ; Jianqiang LIU ; Chuanshen JIANG ; Xiaolan ZHANG ; Gang LIU ; Wulian LIN ; Donggui HONG ; Wen WANG ; Bingcan YANG ; Shenglan LI ; Xiaodong WEN ; Liqing WANG ; Shulan DING ; Huadong LIANG
Chinese Journal of Digestive Endoscopy 2019;36(10):737-740
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.
10.Effects of different injection methods of nanocarbon tracer on gastrectomy for patients with gastric cancer
Xiaojian HE ; Gang LIU ; Xiaolan ZHANG ; Wen WANG ; Zhijian ZHANG ; Kerong LIN ; Dazhou LI ; Rong WANG ; Jianqiang LIU ; Wulian LIN
Chinese Journal of Digestive Endoscopy 2018;35(1):37-40
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.

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