Objective:To analyze the clinical characteristics of brucellosis complicated with rash.Methods:The medical records of 13 patients diagnosed with brucellosis complicated with rash diagnosed at the Hulunbuir People's Hospital from January 2017 to January 2022 were collected. Patient general information, clinical characteristics, laboratory tests and treatment results were analyzed by retrospective investigation.Results:Among the 13 patients with brucellosis complicated with rash, 10 were females and 3 were males, the youngest age was 39 years, and the oldest age was 62 years. All patients had fever, which may be accompanied by symptoms such as chills, fatigue, hyperhidrosis, arthralgia, headache and other symptoms. Among the 13 patients, 12 had scattered red or dark red macules/papules/maculopapules on the trunk and limbs, and 1 had red macules on both lower limbs, ranging in size from 2 to 10 mm, with no itching or pain symptoms, and the rash did not fade under pressure. All patients tested positive for rose bengal plate agglutination test (RBT) and in vitro serum agglutination test (SAT). Brucella was isolated and cultured from blood samples of 4 patients. All patients showed elevated levels of C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR), with detection values ranging from 27.1 to 146.4 mg/L and 22 to 79 mm/hr, respectively. Platelet and hemoglobin decreased in 1 case, 64 × 10 9/L and 96 g/L, respectively. Seven patients showed elevated levels of alanine aminotransferase (ALT) and/or aspartate aminotransferase (AST), with detection values ranging from 51 to 204 and 45 to 210 U/L, respectively. Creatinine increased in 2 patients, and the detection values ranged from 92.6 to 125.3 μmol/L. Three patients had abnormal urine routine; bone damage was found in 1 patient. After 12 weeks or more of combined, full dose and full course of drug treatment, 12 cases were cured and 1 case improved, with a treatment effectiveness rate of 100%. Conclusions:The incidence of brucellosis complicated with rash is low. When the patient has a history of epidemiological contact with brucellosis, and has symptoms of fever and rash, combined with laboratory test results, brucellosis can be considered, and early treatment could lead to a good prognosis.

Objective:To investigate the clinical characteristics of patients infected with Brucella Melitensis ( B. Melitensis) type 1 and type 3 in Hulunbuir, Inner Mongolia Autonomous Region. Methods:A retrospective analysis method was used to collect clinical medical records of patients with brucellosis admitted to Hulunbuir People's Hospital from June 2013 to August 2017, and 71 patients with brucellosis positive in blood culture and identified by polymerase chain reaction (PCR) and AMOS-PCR were selected as the study subjects. According to the identification results, they were divided into B. Melitensis type 1 and type 3 groups. General information, epidemiological characteristics, clinical characteristics, laboratory examinations, complications and efficacy of the two groups were compared. Results:Among 71 patients with brucellosis, 22 cases were B. Melitensis type 1, including 16 males and 6 females, aged (39.91 ± 16.04) years old; 49 cases were B. Melitensis type 3, including 34 males and 15 females, aged (40.67 ± 18.72) years old. There were no significant differences in gender composition and age between the two groups (χ 2 = 0.081, t = 0.166, P > 0.05). There were 10 cases(45.5%) of B. Melitensis type 1 patients living in agricultural areas, 10 cases (45.5%) in pastoral areas, and 2 cases (9.1%) in cities; there were 40 cases (81.6%) of B. Melitensis type 3 patients living in agricultural areas, 7 cases (14.3%) in pastoral areas and 2 cases (4.1%) in cities, and the difference between regions was statistically significant (χ 2 = 9.276, P < 0.05). Testicular swelling and pain symptoms [22.7% (5/22), 6.1% (3/49)] in B. Melitensis type 1 and type 3 patients were compared, the difference was statistically significant (χ 2 = 4.187, P < 0.05); other clinical features were compared, the differences were not statistically significant ( P > 0.05). There were no significant differences in white blood cell count (WBC) and platelet count (PLT) decreased, erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), alanine aminotransferase (ALT) and aspartate aminotransferase (AST) increased between the two groups ( P > 0.05). The number of complications in B. Melitensis type 1 and type 3 patients were 12 cases (54.5%) and 14 cases (28.6%), respectively, and the difference between the two groups was statistically significant (χ 2 = 4.413, P < 0.05). Ten cases (45.5%) of B. Melitensis type 1 patients were cured, 12 cases (54.5%) were improved, 34 cases (69.4%) of B. Melitensis type 3 patients were cured, 15 cases (30.6%) were improved, and there were no invalid or relapsed patients in both groups, the difference in curative effect between the two groups was statistically significant (χ 2 = 3.690, P < 0.05). Conclusions:In Hulunbuir, Inner Mongolia Autonomous Region, there are differences in the living areas of B. Melitensis type 1 and type 3 patients. The B. Melitensis type 1 patients are prone to testicular swelling and pain and brucellosis complications.

Objective:To understand the prevention knowledge of brucellosis among permanent residents in the agricultural area of Hulunbuir City, Inner Mongolia Autonomous Region, and to provide a scientific basis for formulating brucellosis prevention strategies and measures.Methods:From May to December 2018, Daur Autonomous Banner of Morin Dawa and Arun Banner in the agricultural area of Hulunbuir City were selected as the survey sites. Three townships were selected from each banner, and one administrative village from each township was selected as the survey village. The permanent residents aged ≥14 who had lived in the survey village for at least one year were selected as the survey subjects. Serum was separated by the examiner and the rose-bengal plate agglutination test (RBPT) was conducted. The positive sera were further tested by tube agglutination test (SAT).Questionnaires were conducted by investigators in the form of face-to-face case interview, including general demographic information, family information, brucellosis prevention knowledge awareness status, epidemiological contact history, prevention status, general behavior, etc., to calculate the awareness rate of brucellosis prevention knowledge.Results:A total of 880 sera were isolated, of which 185 were positive for RBPT. Further examination of SAT showed that the positive rate of SAT was 17.27% (152/880). The overall awareness rate of brucellosis prevention knowledge was 46.73% (16 450/35 200). The awareness rates of males and females were 47.82% (8 473/17 720) and 45.64% (7 977/17 480), respectively. The 21 - 40 years old group had the highest awareness rate [60.94% (3 705/6 080)]. The awareness rates of primary school and below, junior high school, senior high school and above were 45.96% (11 969/26 040), 48.79% (3 962/8 120) and 49.90% (519/1 040), respectively. The awareness rate of people with livestock raising behavior in the year before the survey was 47.35% (8 011/16 920), while the awareness rate of people without such behavior was 46.17% (8 439/18 280).Conclusions:The overall awareness rate of brucellosis prevention knowledge among permanent residents in the agricultural area of Hulunbuir City is low. It is necessary to strengthen the training of relevant knowledge and strengthen the publicity and education of people with low awareness rate.

Objective:To understand the clinical characteristics of Brucella epididym-orchitis (BEO). Methods:The clinical data of married male patients with brucellosis in acute stage admitted to Hulunbuir People's Hospital from September 2017 to October 2019 were collected and divided into BEO group and non-BEO group, with 46 and 50 cases, respectively. The clinical manifestations, laboratory examination and treatment effect were analyzed and evaluated.Results:The frequency of lower abdominal pain, erectile dysfunction and premature ejaculation in BEO group were higher than those in non-BEO group [26.1% (12/46) vs 8.0% (4/50), 89.1% (41/46) vs 12.0% (6/50), and 28.3% (13/46) vs 6.0% (3/50), χ 2 = 5.643, 57.037, 8.548, P < 0.05]. In laboratory examination, the incidence of increased leukocyte (WBC) count in BEO group was significantly higher than that in non-BEO group [23.9% (11/46) vs 8.0% (4/50), χ 2 = 4.602, P < 0.05]. In terms of sperm function, the incidence of decreased sperm dens (DENS) in BEO group was significantly higher than that in non-BEO group [21.7% (10/46) vs 2.0% (1/50), χ 2 = 9.201, P < 0.05]. After 2 - 7 d of treatment, the pain and/or tenderness of scrotum were relieved in all patients with BEO. After 3 - 5 d of treatment, the symptoms of BEO patients with lower abdominal pain and dysuria were relieved. After 12 weeks of treatment, 97.8% (45/46) of BEO patients had normal scrotal and testicular ultrasonography; 95.1% (39/41) of BEO patients had normal erectile function, 76.9% (10/13) of BEO patients had no premature ejaculation, and DENS returned to normal in 80.0% (8/10) of patients with DENS decreased. Five cases' sperm motility (PRNPPER) returned to normal of 6 patients with PRNPPER decreased. Conclusion:BEO patients have the clinical characteristics of lower abdominal pain, erectile dysfunction, premature ejaculation and spermatogenic dysfunction, and the overall prognosis is good after treatment.

Objective:To analyze the epidemiological characteristics, clinical features of brucellosis patients with abnormal blood routine, and to improve the awareness of brucellosis among clinicians.Methods:A total of 1 036 patients with brucellosis admitted to the Department of Brucellosis, Hulunbuir People's Hospital from January 2011 to December 2017 were selected, including 274 patients with abnormal blood routine (case group), and 762 patients with normal blood routine(conrtol group). Epidemiological characteristics, clinical features and laboratory tests were analyzed retrospectively.Results:In 274 patients of case group, there were 128 males and 146 females, and the age was (36.3 ± 18.7) years old. In 762 patients of conrtol group, there were 381 males and 381 females, and the age was (35.4 ± 20.4) years old, and there were no significant differences in sex ratio and age between the two groups ( P > 0.05). The main route of infection in the two groups was to raise livestock such as sheep and cattle, 254 cases (92.7%) and 724 cases (95.0%), respectively. The proportions of patients with dizziness symptoms were 31.0% (85/274) and 17.7% (135/762) in the two groups, and the proportions of patients with rash were 14.2% (39/274) and 3.0% (23/762), and the differences were statistically significant between the two groups (χ 2 = 21.331, 45.054, P < 0.05). The symptoms of fever, sweating and fatigue were common in both groups, and the splenomegaly was the most common sign. However, there were no significant differences in the proportion of abnormal characteristics between the two groups ( P > 0.05). Among the 274 patients in case group, 48 had leucopenia, 160 had anemia, and 148 had thrombocytopenia; and 17 had both leucopenia and anemia, 23 had both leucopenia and thrombocytopenia, and 16 had both anemia and thrombocytopenia, and 13 had leucopenia, anemia, and thrombocytopenia at the same time. Conclusions:In the brucellosis epidemic area, when the patient has symptoms such as fever, fatigue, sweating, leucopenia, anemia, and thrombocytopenia, and excluding abnormal blood routine caused by other reasons, clinicians should consider the possibility of Brucella infection.

OBJECTIVE: To explore molecular etiology and clinical characteristics of two pedigrees affected with hereditary factor VII(FVII) deficiency. METHODS: The nine exons and flanking sequences of the F7 gene of the probands were amplified by PCR. The amplicons were analyzed by direct sequencing. Suspected mutations were subjected to SWISS-MODEL modeling and analysis of protein structure change by Pymol software and conservation of amino acids across various species. RESULTS: For proband of pedigree 1, the prothrombin time (PT), FVII activity (FVII:C) and FVII antigen (FVII:Ag) were 36.3 s, 3%, 53.56%, respectively. Sequencing revealed a compound heterozygous variants of c.80_81delCT and c.1371G>T(p.Arg439Ser). His son carried a heterozygous c.1371G>T (p.Arg439Ser) variant. For proband of pedigree 2, the PT, FVII:C and FVII:Ag were 22.3 s, 4%, 1.58%, respectively. Sequencing has revealed a compound heterozygous c.278G>T(p.Arg75Met) missense variant in exon 3 and c.1278T>G (p.His408Gln) in exon 9 of the F7 gene. His mother and son both carried a heterozygous c.278G>T(p.Arg75Met) variant. Three-dimensional simulation and homology analysis revealed that the p.Arg439Ser and p.Arg75Met can respectively alter part of hydrogen bonds and two highly conserved amino acids. CONCLUSION Two novel heterozygous missense variants of the F7 gene [c.1371G>T(p.Arg439Ser) and c.278G>T(p.Arg75Met)] probably account for the decrease of factor VII in the two pedigrees.
Asian Continental Ancestry Group ; Factor VII ; Factor VII Deficiency ; Genotype ; Heterozygote ; Humans ; Mutation ; Pedigree

Objective To investigate the associations of cognitive function with apolipoprotein E (APOE) gene polymorphism and chronic diseases among long-lived people in Zhongxiang City of Hubei Province.Methods A total of 110 long-lived elderly residents aged 90 years and over were collected.Their cognitive function was determined face-to-face using questionnaires by trained interviewers.According to mini-mental state examination(MMSE) scores,subjects were divided into a no dementia risk group and a high dementia risk group.General demographic characteristics,activities of daily living,depression state and nutrition status were compared between the two groups.Correlations of dementia with APOE gene polymorphism and chronic diseases were analyzed.Results The average MMSE score was 22.3±4.8.Among the 110 long-lived people,18 cases had a high risk for dementia,accounting for 16.4％,and 92 cases had no risk of dementia,accounting for 83.6％.The risk of dementia in long-lived elderly people was correlated with activities of daily living,mental state,nutritional status and falls(all P＜0.05).There were 8 cases with the APOE gene ε4/ε3 genotype in the high dementia risk group and 16 cases with the APOE gene ε4/e3 genotype in the no dementia risk group,with the former group showing a higher frequency of the APOE ε4/ε3 genotype (44.4％ vs.17.4％,x2 =6.46,P＜0.05).The former group also seemed to have a higher APOE ε4 frequency,but the difference was not statistically significant(22.2 ％ vs.10.3 ％,x2 =3.96,P =0.055)Chronic diseases prevalent in the long-lived people were hypertension(86 cases,78.2 ％),hearing loss (72 cases,65.5％),hyperlipidemia(56 cases,50.9％),anemia(43 cases,39.1％),impaired vision(39 cases,35.5 ％),chronic kidney diseases(25 cases,22.7 ％),chronic heart diseases (18 cases,16.4 ％) and osteoarthritis(18 cases,16.4％).No correlation was found between the risk of dementia and chronic diseases(P＞0.05).Conclusions Cognitive function is highly correlated with activities of daily living,mental state and nutritional status among long-lived elderly people in Zhongxiang City.The risk of dementia has a correlation with the APOE gene e4/e3 genotype but not with chronic diseases in long-lived people.

Brucellosis is a zoonotic,acute and chronic systemic disease caused by Brucella,the incidence is increasing year by year.Brucella can invade many organs and tissues of human body,affect working ability,and even cause disability and death,seriously endanger human health.Now the main treatment method of brucellosis is multi-course and combined application of antibacterial drugs,but long-term using of such drugs is prone to drug resistance and adverse reactions.In recent years,the combination of traditional Chinese and western medicine has been applied to treat brucellosis and achieved certain curative effect.In this paper,the current situation in treating brucellosis by integrated traditional Chinese and western medicine is summarized and prospected.

OBJECTIVETo explore the correlation between F10 gene mutation and its phenotype in a Chinese pedigree affected with FX deficiency.

METHODSProthrombin time(PT), activated partial thromboplastin time(APTT), fibrinogen, FII activity(FII:C), FVII activity(FVII:C), FIX activity (FIX:C), FX activity(FX:C) were determined with a one-stage clotting assay. The FX antigen(FX:Ag) was detected with an enzyme linked immunosorbent assay(ELISA). The 8 exons, introns and 5' and 3' untranslated regions(UTR) of the F10 gene of the proband and her family members were subjected to PCR amplification and Sanger sequencing. Suspected mutation was confirmed by reverse sequencing. Polymorphisms were excluded by direct sequencing of 100 healthy individuals.

RESULTSThe PT and APTT of the proband have prolonged to 16.1 s and 49.0 s, respectively. Her FX:C and FX:Ag were reduced by 27% and 56%, and her mother's PT, APTT, FX:C and FX:Ag were 14.8 s, 37.4 s, 44%, 34%, respectively. Her grandmother's PT, APTT, FX:C and FX:Ag were 15.8 s, 42.2 s, 31%, 45%, respectively. The results of her father and other family members were all within the normal range. Genetic analysis has revealed a heterozygous G to A mutation in the proband at position 28076 in exon 8 of the F10 gene, which resulted in a p.Gly363Ser substitution. The same mutation was also found in her mother and grandmother. No mutation of the F10 gene was found in her father. Gly363Ser may result in changes in the secondary structure of the FX protein and reduction of its activity.

CONCLUSIONThe g.28076G to A(p.Gly363Ser) mutation of the F10 gene probably underlies the FX deficiency in this pedigree. The mutation was discovered for the first time in Chinese patients.

OBJECTIVE: To carry out phenotypic and genotypic analysis for two Chinese pedigrees affected with coagulation factor XII (F XII) deficiency. METHODS: Plasma prothrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen (FIB), thrombin time (TT), and blood coagulation factor VIII, IX, XI, XII activity (FVIII:C, FIX:C, FXI:C, FXII:C) were determined with one stage clotting assay on a STAGO coagulation analyzer. FXII antigen was determined with an enzyme linked immunosorbent assay (ELISA). The 14 exons and their flanking sequences of the F12 gene were subjected to PCR amplification and Sanger sequencing. The conservation and structure of mutant protein were analyzed with MegAlign software and PYMOL software. RESULTS: The APTT of the probands was significantly prolonged, while their FXII:C and FXII:Ag were significantly reduced. Genetic analysis of the proband has revealed three novel mutations in the F12 gene, including g.5972G>A splice site mutation in intron 5, g.8810_8814delGTCTA in exon 14, and g.6259G>A (p.Pro182Leu) in exon 7. In addition, a previously known mutation IVS13-1G>A has been found. CONCLUSION Four mutations have been identified in the two Chinese pedigrees, among which three were novel. Above mutations probably played a role in the defect of FXII in the two pedigrees.
Exons ; Factor XII ; genetics ; Factor XII Deficiency ; genetics ; Genetic Testing ; Humans ; Pedigree