BACKGROUND: Researches suggest that transient ischemic attack (TIA)can induce cognitive dysfunction, and cerebral blood flow and its distribution are hypothesized to be closely related to cognitive activities.OBJECTIVE: To investigate the alteration of cognitive function and provide insights into its relations with cerebral perfusion in TIA patients.DESIGN: A case-control study.SETTING: Departments of Geriatrics, Electrophysiology and Magnetic Resonance of Urumqi General Hospital of Lanzhou Military Area Command of Chinese PLA.PARTICIPANTS: Totally 35 male right-handed TIA patients aged 45-78 years with an average of (68.1±8.4) years were selected from the inpatients and outpatients in the Department of Geriatrics, Urumqi General Hospital of Lanzhou Command of Chinese PLA between January 2002 and June 2003. Another 33 healthy right handed male subjects aged 45-77 years with an average of (67.8±8.6) years coming for physical examination were recruited to serve as the control group.METHODS: Patients and control subjects were tested with event-related potentials (ERPs) and the scale of elderly cognitive function (SECF) to examine the orientation, learning and memory, span, recall 1 (association),long-term memory, naming of animals, calculation, classification, copying,language and recall 2 (relation). According to the T score transformation table, the original scores were transformed into T scores relative to the age to eliminate the impact of age, and also into T'score to eliminate the interference by the patients'education, so that cognitive function of the patients could be evaluated with T'score, and the lower the score, the poorer the cognitive function. Cases in the two groups were all tested, and TIA patients were also examined with magnetic resonance angiography (MRA).MAIN OUTCOME MEASURES: Results of ERPs, SECF and MRA.RESULTS: Of the 35 TIA patients and 33 control subjects all completed the trial. Examination of ERPs reveled significantly prolonged latency of P300 components of ERP in the TIA group [(336.2±34.2) ms] than that in the control group [(311.3±44.2) ms, P ＜ 0.05]. The scores of span, recall 1,long-term memory, naming of animals, calculation, and recall 2 in SECF in TIA group were all lower than those in control group (39.7±11.9 vs 47.4±12.0; 54.5±14.8 vs 61.8±14.5; 61.1±7.8 vs 64.7±1.7; 59.4±11.0 vs 64.7±8.8; 50.0±14.7 vs 58.1±14.2; 44.6±15.4 vs 53.2±17.8, t=4.151 0-7.292 8, P ＜ 0.05-0.01). MRA identified abnormalities in 33 of the 35 TIA patients (94%), manifested mainly by stenosis and occlusion involving the vertebral artery (54%, 19/35), bilateral anterior, middle and posterior cerebral arteries (40% ,28/70;59% ,41/70;47% ,33/70), basilar artery (5.71%, 2/35) and bilateral internal carotid artery (5.71%, 4/70) respectively.CONCLUSION: TIA patients are characterized by prolonged P300 latency with multiple cognitive impairments especially in memory and cerebral artery stenosis and occlusion as shown by MRA, suggests that TIA patients have persistent low cerebral perfusion and frequently, cognitive dysfunction in the presence of local blood supply disorder in the hemispheres.

OBJECTIVE: To analyze the clinical phenotype and genetic basis of a consanguineous pedigree affected with hereditary coagulation factor XII (FXII) deficiency. METHODS: Following extraction of genomic DNA, all exons and flanking regions of F12 gene were subjected to PCR amplification and Sanger sequencing. ClustalX-2.1-win and MutationTaster software was used to analyze the conservation and impact of the variants on protein function. RESULTS: DNA sequencing showed that the proband carried a homozygous g.6753-6755delACA deletion (p.252delAsn) in exon 9 of the F12 gene, for which her father, mother and brother were heterozygous carriers. The same deletion was not found in her sister. CONCLUSION The homozygous p.252delAsn deletion probably underlies the hereditary FXII deficiency in this pedigree.

Objective To investigate the immune status characteristics of primary ITP patients with abnor-mal auto-antibodies. Methods A total of 110 patients were enrolled in our study,who were admitted in Fu-Xing Hospital affiliated to Capital Medical University from January 2001 to July 2015.According to whether the patients have autoimmune diseases and the presence of auto-antibodies,we divided the patients into 3 groups,including the primary ITP with abnormal auto-antibodies(PITP-ANA)group,the primary ITP(PITP)group and the second-ary ITP(SITP)group.We compared the T-cell subsets,regulatory T cells,B lymphocytes,changes of immunoglob-ulin and bone marrow biopsy and cytology of patients among the three groups,retrospectively. Results The per-centage of CD3+T cells(61.72 ± 10.60)% in PITP-ANA group was lower than that in PITP group(69.57 ± 11.99)%. The percentage of CD8+T lymphocyte(24.00 ± 7.67)% was significantly lower than that of PITP group (30.59 ± 11.08)%(P<0.05).The proportion of Treg in PITP group,PITP-ANA group and SITP group were(6.12 ± 1.41)%,(7.50 ± 2.76)% and(8.49 ± 2.47)%,respectively,with statistically significant differences.The ra-tio of CD19+T cell in PITP-ANA group(25.75 ± 9.98)%was significantly higher than that in PITP group(16.16 ± 8.19)%(P < 0.01). The concentration of IgG、IgA、κ light chain and λ light chain in PITP group,PITP-ANA group and SITP group showed an upward trend and the highest level was in the SITP group,with statistically signifi-cant differences among the three groups. A variety of abnormal auto-antibodies could be found in both PITP-ANA group and SITP group. Conclusions We consider that the immune function abnormity of patients in PITP-ANA group were worse than that in PITP group,because the concentration of immunoglobulin,the percentage of B lym-phocyte and Treg ratio are higher in than those in PITP group.

OBJECTIVE: To analyze the clinical phenotypes and genetic variants of a Chinese pedigree affected with Hereditary coagulation factor Ⅻ (FⅫ) deficiency. METHODS: A pedigree presented at the First Affiliated Hospital of Air Force Medical University on December 24,2021 was selected as the study subject. Activated partial thromboplastin time (APTT) and coagulation factor Ⅻ activity (FⅫ:C) were determine by a clotting method, and FⅫ antigen was detected with an ELISA assay. Following the extraction of genomic DNA, all exons and flanking regions of the F12 gene were subjected to Sanger sequencing. Clustalx-2.1-win, PROVEAN and Swiss-PDB Viewer software was used to analyze the conservation of amino acids at the variant sites, impact of of the variants on the amino acid substitutions and the protein structure. RESULTS: The APTT of the proband has prolonged to 70.2 s. Her FⅫ:C and FⅫ:Ag have decreased to 12% and 13%, respectively. DNA sequencing revealed that the proband has harbored c.346G>A (p.Gly97Ser) and c.1583C>A (p.Ser509Tyr) heterozygous compound missense variants in exons 5 and 13 of the F12 gene, respectively. Her father and sister were heterozygous carriers for the c.346G>A (p.Gly97Ser) variant, whilst her mother and brother were heterozygous for the c.1583C>A (p.Ser509Tyr) variant. CONCLUSION The c.346G>A (p.Gly97Ser) and c.1583C>A (p.Ser509Tyr) compound heterozygous variants of the F12 gene probably underlay the pathogenesis of hereditary coagulation FⅫ deficiency in this pedigree.
Humans ; Male ; Female ; Pedigree ; Factor XII/genetics* ; Mutation ; East Asian People ; Heterozygote ; Mothers ; Factor XII Deficiency/genetics*

A 27-year-old male was admitted to the Xijing Hospital in August 2018 due to unprovoked severe thoracodynia with palpitations, shortness of breath and chest tightness. Computed tomography angiography showed a type A aortic dissection. Genetic testing based on next-generation sequencing for 15 genes associated with hereditary aortic diseases and Sanger sequencing validation revealed a heterozygous missense mutation c.998G>T (p.Gly333Val) in the COL3A1 gene. Sanger sequencing verification of family members confirmed that the mutation c.998G>T co-segregated with the patient′s phenotype in this family. That mutation was classified as "likely pathogenic" according to American College of Medical Genetics and Genomics standards and guidelines for genetic variant classification. Carriers of this mutation can be definitively diagnosed with "vascular Ehlers-Danlos syndrome". After the diagnosis was clarified, symptomatic treatment was given to the patient, but the disease progressed rapidly. The patient discontinued treatment and died shortly after being discharged. In this study, we found a new variant in the COL3A1 gene, expanding the mutation spectrum of this gene.