Global developmental delay and epileptic encephalopathy caused by SPTAN1 gene mutations in 3 cases and literature review / 中华神经科杂志

Objective:To summarize the clinical manifestations, gene variations,and treatment of cases with SPTAN1 gene variations characterized by global developmental delay or epileptic encephalopathy. Methods:Three patients with SPTAN1 gene mutations which caused developmental epileptic encephalopathy type 5 admitted to the Department of Pediatrics, Xiangya Hospital, Central South University from August 2019 to September 2021 were collected. The studies till December 2021 were searched with keywords of " SPTAN1" and "developmental and epileptic encephalopathy 5" in both English and Chinese databases of China National Knowledge Infrastructure, Wanfang, Online Mendelian Inheritance in Man, and PubMed. The clinical manifestations, genetic variations, treatments and prognosis of patients with SPTAN1 gene variations were summarized. Results:All 3 patients presented with global developmental delay, infant onset. Patient 1 showed early-onset epileptic encephalopathies and microcephaly. Patient 2 had an atrial septal defect. Cranial magnetic resonance imaging (MRI) of patient 3 showed cerebellar hypoplasia.Antiepileptic seizure therapy was partially effective, but failed to control the spasm. Development was slightly improved after rehabilitation training and other treatments, but still lagged behind the children of the same age. The SPTAN1 gene mutations of the 3 cases were heterozygous mutations, c.6923_6928dup, c.6619_6621delGAG and c.6749T>C, respectively. c.6749T>C was not reported in the previous literature. Thirteen case reports, including 69 patients, were collected. Sixty-seven patients had heterozygous mutations, inherited in an autosomal dominant fashion, including 35 missense mutations, 12 deletion mutations, 11 repetition mutations, 9 nonsense mutations, and the rest 2 patients had compound heterozygous missense mutations. A total of 38 different variation sites were reported. The phenotypes of 69 patients from the previous studies mainly included intellectual impairment (32/69), seizures (30/69), developmental delay (28/69), progressive microcephaly (27/69), hypotonia (23/69), poor visual attention (15/69), spastic quadriplegia (9/69), and gastrointestinal abnormalities (7/69). The primary type of seizures was epileptic spasm. Cranial MRI abnormalities mainly included cerebellar and brainstem atrophy, corpus callosum dysplasia, myelin dysplasia, and brain atrophy. Previous reports showed that a variety of anti-seizure drugs were effective for epileptic seizures. The prognosis varied greatly. Severe cases could be fatal, and mild cases only manifested as mild mental retardation or movement disorders. Conclusions:SPTAN1 gene mutation leads to developmental epileptic encephalopathy type 5, the phenotypes of which include intellectual impairment, global developmental delay, infantile spasms, and head deformity.Antiepileptic drugs and functional training can improve the symptoms, but the prognosis is still poor. This study expands the SPTAN1 gene variant spectrum, enriches the mutant spectrum of SPTAN1 gene associated with developmental epileptic encephalopathy type 5.

Expression and Clinical Significance of Helper T Cells 9 and Its Sytokines Interleukin 9 in Chronic Lymphocytic Leukemia / 中国实验血液学杂志

OBJECTIVE@#To investigate the expression and clinical significance of T helper cell 9 (Th9) and its cytokine interleukin 9(IL-9) in peripheral blood of patients with chronic lymphocytic leukemia(CLL).@*METHODS@#A total of 43 newly diagnosed patients with chronic lymphocytic leukemia in the First Affiliated Hospital of Xinjiang Medical University from June 2021 to June 2022 were selected as the case group. The patients were divided into Binet A group (13 cases), Binet B group (20 cases) and Binet C group (10 cases) by Binet staging system, and 20 healthy volunteers who underwent physical examinationin in our hospital in the same period served as control group. The proportion of Th9 cells in peripheral blood was detected by flow cytometry, the expression level of Th9 specific transcription factors PU.1 and IRF4 was detected by Western blot, and the expression level of serum cytokine IL-9 was detected by ELISA. The proportion of Th9, the expression of PU.1, IRF4 and IL-9 in each group were compared, and the correlation between the proportion of Th9, IL-9 and clinicopathological indexes of CLL patients was analyzed.@*RESULTS@#The proportion of Th9, the expression of PU.1, IRF4 and IL-9 in CLL group were significantly higher than those in control group (P<0.05), the proportion of Th9 and the expression of IL-9 in Binet B and C group were higher than those in Binet A group (P<0.05), but there was no significant difference in the proportion of Th9 cells between Binet B group and C group (P>0.05). The expression of IL-9 in Binet C group was significantly higher than that in Binet B group (P<0.05) . The proportion of Th9 cells and IL-9 were highly expression in patients with β2 microglobulin abnormality, IGHV unmutation, P53 abnormality and hepatosplenic lymph node enlargement(P<0.05), but not related to age and sex (P>0.05). The results of Spearman correlation analysis showed that the proportion of Th9 in patients with CLL was negatively correlated with the lymphocytic account and lymphocyte proportion(rs=-0.32，rs=-0.34). The proportion of Th9 and IL-9 were positively correlated with Binet stage, Rai stage and CLL-IPI Scoring (rs=0.79，rs=0.54，rs=0.58； rs=0.72，rs=0.63，rs=0.45), but not with WBC, CD4+ T cells and CD8+T cells (P>0.05). The proportion of Th9 was positively correlated with IL-9 (rs=0.53).@*CONCLUSION@#Th9 cells and IL-9 are abnormally highly expressed in CLL, which is related to the poor prognosis of CLL.

Compound heterozygous mutations in POLR3A gene cause global developmental delay with epilepsy and striatal degeneration / 中华神经科杂志

Objective:To investigate the clinical, imaging and genetic features of patients with global developmental delay combined with epilepsy and striatal degeneration caused by POLR3A gene mutations.Methods:A total of three patients from two families with non-consanguineous marriages admitted to the Department of Pediatric Neurology of Xiangya Hospital of Central South University in 2020 were examined in detail. Peripheral blood DNA was extracted, and whole-exome sequencing was performed on the patients, combined with Sanger sequencing for verification. The mutation and protein function predictor softwares were applied to analyze the mutation sites.Results:All three patients presented with global developmental delay, seizures, dystonia. Head magnetic resonance imaging of all patients suggested basal ganglia atrophy and striatal degeneration. All had compound heterozygous mutations of c.1980 G>C; c.1771-6 C>G and c.2044C>T; c.1771-7 C>G in POLR3A gene as indicated by whole-exome sequencing. Sanger sequencing validation confirmed that the compound heterozygous mutations were originated from the parents of probands from the two families, respectively. Bioinformatic analysis suggested pathogenic features of the mutations.Conclusions:Compound heterozygous mutations in POLR3A gene , including a splice site mutation result in global developmental delay combined with epilepsy, striatal degeneration. Clinicians should promote the awareness of POLR3 related spectrum disorders, thus make early recognition and diagnosis.

Significance of Tim-3 in The Imbalance of Th17/Treg in Patients with Multiple Myeloma / 中国实验血液学杂志

OBJECTIVE@#To investigate the singnificance of Tim-3 in Th17/Treg balance in patients with multiple myeloma (MM).@*METHODS@#Fifty-six newly diagnosed MM patients and 30 healthy people were enrolled. Flow cytometry was used to detect the expression of Tim-3 on CD4@*RESULTS@#Compared with the control group, the expression of Tim-3 on CD4@*CONCLUSION@#The ratios of Th17/Treg, IL-17/IL-10 and Tim-3

Mutations in aminoacyl-tRNA synthetase genes: an analysis of 10 cases / 中国当代儿科杂志

OBJECTIVE@#To study the clinical features of the diseases associated with aminoacyl-tRNA synthetases (ARS) deficiency.@*METHODS@#A retrospective analysis was performed of the clinical and gene mutation data of 10 children who were diagnosed with ARS gene mutations, based on next-generation sequencing from January 2016 to October 2019.@*RESULTS@#The age of onset ranged from 0 to 9 years among the 10 children. Convulsion was the most common initial symptom (7 children). Clinical manifestations included ataxia and normal or mildly retarded intellectual development (with or without epilepsy; n=4) and onset of epilepsy in childhood with developmental regression later (n=2). Some children experienced disease onset in the neonatal period and had severe epileptic encephalopathy, with myoclonus, generalized tonic-clonic seizure, and convulsive seizure (n=4); 3 had severe delayed development, 2 had feeding difficulty, and 1 had hearing impairment. Mutations were found in five genes: 3 had novel mutations in the AARS2 gene (c.331G>C, c.2682+5G>A, c.2164C>T, and c.761G>A), 2 had known mutations in the DARS2 gene (c.228-16C>A and c.536G>A), 1 had novel mutations in the CARS2 gene (c.1036C>T and c.323T>G), 1 had novel mutations in the RARS2 gene (c.1210A>G and c.622C>T), and 3 had novel mutations in the AARS gene (c.1901T>A, c.229C>T, c.244C>T, c.961G>C, c.2248C>T, and Chr16:70298860-70316687del).@*CONCLUSIONS@#A high heterogeneity is observed in the clinical phenotypes of the diseases associated with the ARS deficiency. A total of 14 novel mutations in 5 genes are reported in this study, which enriches the clinical phenotypes and genotypes of the diseases associated with ARS deficiency.

Influence of sleep disturbance,depression and anxiety on cognitive function of medical staff / 中华行为医学与脑科学杂志

Objective To explore the relationship between cognitive function and sleep disturb-ance,depression and anxiety. Methods Totally 333 medical staff were investigated using the repetitive neu-ropsychological status questionnaire (RBANS),the Pittsburgh sleep quality index ( PSQI),the depression self-rating scale (SDS) and the anxiety self-rating scale ( SAS). Results ①The difference of visual span in gender(male:(81. 87±13. 48) vs female:(77. 12± 13. 09)) was statistically significant ( t=2. 928,P<0. 05).②Differences in immediate memory,language function,attention function and total score of RBANS among patients of different ages were statistically significant ( F=9. 654,8. 370,11. 465,11. 112, all P<0. 01).③There were significant differences in the RBANS,immediate memory,visual span,attention function and delayed memory between doctor and nurse(t=5. 374,4. 730,3. 389,4. 359,5. 675,all P<0. 01).④There were significant differences in the RBANS,immediate memory,and delayed memory between different PSQI levels ( F=3. 475,4. 892,4. 087, all P<0. 05). ⑤There were significant differences in RBANS ((88. 87±12. 47) vs (83. 69±13. 03)),immediate memory ((86. 18±16. 09) vs (80. 56±15. 38)),visual span ((79. 39±13. 32) vs (73. 47±12. 46)),and delayed memory ((89. 03±10. 26) vs (85. 49±11. 41)) between the depressive symptoms and not depressive symptoms groups( t=2. 794,2. 380,3. 042,2. 295,all P<0. 05) .⑥The total score of medical staff's RBANS was significantly negatively correlated with their PSQI,SDS and SAS scores (r=-0. 158,-0. 233,-0. 117,all P<0. 05).⑦SDS,age,occupation,education, time of sleep and PSQI entered multiple stepwise regression equations,which explain 39. 9% variation in cog-nitive function of medical staff. Conclusion The cognitive function of medical staff is affected by gender, age,occupation,education,depression,and sleep disturbance. The worse the sleep quality,the higher the de-gree of depression and anxiety,and the poorer the cognitive function.

Incidence Analysis of Monoclonal Gammopathy of Undetermined Significance in People over 40 Years of Age / 中国实验血液学杂志

OBJECTIVE@#To study the distribution of monoclonal gammopathy of undetermined significance(MGUS) in different age, sex and ethnic people over 40 years old.@*METHODS@#Five hundred and ninety-six people(over 40 years old) examened in the Health Examination center of the First Affiliated Hospital of Xinjiang Medical University from July 2017 to September 2017 were selected. Among 596 people, male 310, female 286, Han people 488, and Uygur ethnic people 108. According to age, 596 people were divided into 3 groups, (40-59 years old group, 60-79 years old group, over 80 years old group). First, all samples were screened by capillary serum protein electrophoresis. If the suspected monoclonal bands were found in the electrophoretogram, and then the specific protein types were determined by serum immunofixation electrophoresis.@*RESULTS@#The total incidence of MGUS in 596 screened population was 4.027%. The incidence of MGUS in 40-59 years old group, 60-69 years old group and over 80 years old group were 1.762%, 2.929% and 10% respectively, and the differences among the groups were statistically significant(P<0.05). The incidence of MGUS in male (5.806%) was significantly higher than that in female (2.097%)(χ=5.177，P<0.05). Binary Logistic regression analysis showed that over 80 years old and male were independent risk factors for MGUS(P=0.001, OR=4.188, 95%CI: 1.814-9.673, P=0.048, OR=2.605, 95%CI: 1.009-6.725). The types of immunoglobulin in patients with MGUS were mostly IgG, IgG(66.7%) was significantly more than IgA (29.2%)(χ=21.375，P<0.05)，and there was no significant difference in the incidence of MGUS between people with in Kappa and Lambda.@*CONCLUSION@#The age increase and male may increase the incidence of MGUS, the IgG is the most common type of immunoglobcdin in pathogenesis of MGUS, so the early screening should be done.

Clinical features and COL4A1 genotype of a toddler with hereditary angiopathy with nephropathy, aneurysms and muscle cramps syndrome / 中国当代儿科杂志

Hereditary angiopathy with nephropathy, aneurysms and muscle cramps (HANAC) syndrome is an autosomal dominant genetic disease caused by COL4A1 gene mutation, with major clinical manifestations of white matter lesion, aneurysm, retinal artery tortuosity, polycystic kidney, microscopic hematuria and muscle cramps. This article reports the clinical features and genotype of one toddler with HANAC syndrome caused by COL4A1 gene mutation. The boy, aged 1 year and 8 months, had an insidious onset, with the clinical manifestations of pyrexia and convulsion, white matter lesions in the periventricular region and the centrum semiovale on both sides, softening lesions beside the left basal ganglia, retinal arteriosclerosis, microscopic hematuria and muscle cramps. Whole exome sequencing revealed a pathogenic de novo heterozygous mutation in the COL4A1 gene, (NM_001845) c.4150+1(IVS46)G>T, and therefore, the boy was diagnosed with HANAC syndrome. COL4A1 gene mutation detection should be performed for children with unexplained white matter lesion, stroke, hematuria, polycystic kidney, cataract and retinal artery tortuosity or families with related history.

A case of Okur-Chung syndrome caused by CSNK2A1 gene variation and review of literature / 中华儿科杂志

Objective@#To summarize the clinical features and gene variation characteristics of a child with Okur-Chung syndrome caused by CSNK2A1 gene variation.@*Methods@#The medical records of one patient who was diagnosed with Okur-Chung syndrome in Department of Pediatrics, Xiangya Hospital of Central South University in July 2018 were analyzed. Using "CSNK2A1" gene as the keyword, relevant information about CSNK2A1 gene was searched at CNKI, Wangfang Data, OMIM, PubMed, ClinVar, Decipher (until August 2018). The characteristics of CSNK2A1 gene variation and the clinical phenotype of children with Okur-Chung syndrome were summarized.@*Results@#The boy, 1 year and 8 months old, was sent to hospital at the age of 1 year and 6 months because of delayed growth for more than 1 year. He was susceptible to cough while eating or drinking. He was also suffering from constipation and poor sleep. Physical examination showed that his body weight was 10.2 kg, microcephalus, broad nasal bridge, micrognathia and hypotonia were observed. Whole exome-sequencing test identified a de novo heterozygous variation c.524A>G (p.D175G) in CSNK2A1 gene. This was the first case report of CSNK2A1 gene variation in the mainland of China. So far, a total of 52 cases were reported worldwide (52 single nucleotide variants), including 35 cases in 7 articles, 9 cases in Decipher database and 14 cases in ClinVar database, 6 of which were also reported in PubMed. In previously reported 52 cases, there were 48 missense variants, whereas, splice and frameshift variations were found in 3 cases and 1 case, respectively. Among the variation sites, p.K198R was the most common sites (12 cases), followed by p.R47 (6 cases), p.R80H (4 cases) and p.S51 (4 cases). Among these 52 cases, only 27 cases have been elaborately described in other studies, so the clinical characteristics were summarized in 28 cases eventually (including 27 cases in the articles and this patient), 27 of whom presented severe intellectual disability or global development delay, 1 case with mild language development delay, and 19 had hypotonia; 8 had autism spectrum disorders, 5 had attention deficit hyperactivity disorder, and 9 had sleep problems. 20 had dysmorphic facial features, 10 of them had microcephalus. 16 had failure to thrive or short stature, 12 had gastrointestinal or oromotor problem, 5 had immunological problem, and 4 had skin abnormalities.@*Conclusions@#The main clinical feature of patients with CSNK2A1 gene variations is intellectual disability with multiple systems involved, such as microcephalus, abnormal facial shape and hypotonia. The variation of CSNK2A1 gene is the cause of Okur-Chung syndrome. Missense variation is the main cause, and P. K198R is the hotspot variation.

Advances in the research of smart dressings / 中华烧伤杂志

Smart dressings, which show obvious advantage and potential in wound treatment and real-time monitoring, attract widespread attention in recent years. Real-time and dynamic acquiring wound information is vital to the treatment and prognosis of wound. Further research on smart dressings is helpful for wound management, personalized treatment, and realization of medical application translation of health monitoring technology. In the article, we categorize smart dressings and conclude their functions according to the type of micro-environment information of wound gathered by smart dressings.

A family with Allan-Herndon-Dudley syndrome due to SLC16A2 gene mutation / 中华儿科杂志

Objective@#To report a family diagnosed with Allan-Herndon-Dudley syndrome (AHDS) due to SLC16A2 gene mutation and to summarize the phenotypes, genotypes, diagnosis, treatment, and prognosis.@*Methods@#The clinical features of a family of AHDS diagnosed in Xiangya Hospital of Central South University in November 2017 were analyzed. Related literature was searched at Online Mendelian Inheritance in Man (OMIM), PubMed, CNKI and Wanfang database (from the establishment of databases to June 2018) by using "Allan-Herndon-Dudley syndrome" , and "AHDS" as keywords and the case reports from April 2013 to June 2018 were reviewed.@*Results@#The proband was a boy aged 8 months who presented with global developmental retardation, inability to hold up the head, disability to sit independently or grab, no language development, elongated face, big ears, esotropia, scoliosis, hypotonia in the trunk, hypertonia in extremities, and hyperreflexia. Brain magnetic resonance imaging (MRI) showed widening of the extracerebral space and delayed myelination. Thyroid function tests revealed increased FT3, decreased FT4 and normal TSH. Whole exome sequencing (WES) revealed the SLC16A2 gene c.431-1 (IVS1) G>C hemizygous mutation. The infant's mother and grandmother are carriers, but whose father had no related mutation. One uncle from maternal side had severe psychomotor retardation as well as dystonia and died at one year of age with unknown etiology. A total of 97 articles were retrieved in which 19 case reports were reviewed. Forty-two cases (22 from 8 families and 20 sporadic) were reported. Among these 42 cases (all males), all of them presented with moderate to severe cognitive dysfunction, 15 with seizures; 36 were bedridden, only 4 could walk; 31 had no language development, 2 could speak sentences, 4 could speak few words, 1 had babbling sounds. Furthermore,16 had microcephaly, 18 had facial dysmorphism, 6 had esotropia, 2 had hearing loss,14 had scoliosis, 11 had joint contracture, 30 had low body weight/muscle wasting, 37 had hypotonia in trunk or extremities, 32 had progressive spastic paraplegia or hypertonia. In terms of thyroid function, 33 had abnormal results, within whom 30 had increased T3, 25 had decreased T4 and 3 had increased TSH. Brain MRI showed delayed myelination in 22 cases, within which one normalized with development. Genetic tests showed that 31 had missense mutation (14 sporadic), 5 had deletion mutation (3 sporadic, and 1 due to frameshift mutation), 5 had insertion mutation (2 sporadic), and 1 had repeated mutation. The prognosis was poor as patients often died of recurrent respiratory tract infection.@*Conclusions@#The main clinical manifestations of AHDS are severe global developmental retardation, hypotonia, spastic paraplegia, abnormal serum levels of thyroid hormone and delayed brain myelination. SLC16A2 c. 431-1 (IVS1) G > C mutation is accountable for this disease.

Expression of IL-21/BCL-6/Blimp-1 in echinococcosis / 中国免疫学杂志

Objective:To study the expression of IL-21/BCL-6/Blimp-1 in CE patients and discusse the mechanism of the pathogenesis of the echinococcosis.Methods:27 patients and 30 health persons were collected from the first affiliated hospital of Xinjiang medical university in the same period.IL-21 was detected by ELISA and the expression of IL-21/BCL-6 /Blimp-1 mRNA was detected by Real-time fluorescence quantitative PCR (qRT-PCR) in CE patients.At the same time,17 patients were followed up in the group of patients,and the expression of IL-21/BCL-6/Blimp-1 was detected before and after treatment.Results:(1) The results of PCR showed that the levels of IL-21/BCL-6 mRNA were significantly increased in the peripheral blood mononuclear cells of the CE patients compared with the healthy control group (P<0.05).The expression of IL-21/BCL-6 /Blimp-1 mRNA in patients before the treatment was higher than that of patients after treatment(P<0.05).(2)The level of IL-21 in peripheral blood of CE patients was sig-nificantly higher than that in the healthy control group and basically returned to normal after the cure (P<0.05).IL-21 was positively correlated with BCL-6(r=0.733, P<0.01).Conclusion:BCL-6 and Blimp-1 May promote the human immune system to resist parasitic infection in the course of the development of the disease.IL-21, BCL-6 and Blimp-1 are significantly reduced after effective treatment,indicating that these factors are involved in the immune mechanism of the development of the disease.

Tracking evaluation on implementation of Criteria for Control and Elimina-tion of Malaria(GB 26345-2010)in Yunnan Province / 中国血吸虫病防治杂志

Objective To understand the knowledge,usage,applicability of the standard and the suggestions on the imple-mentation of Criteria for Control and Elimination of Malaria(GB 26345-2010)among malaria prevention and control staff of disease control and medical institutions at all levels in Yunnan Province,so as to provide the evidence for the implementation and revision of the standard.Methods Malaria prevention and control workers at 192 institutions in 16 prefectures and cities of Yunnan Province were surveyed.The malaria prevention and treatment workers at county-level center for disease control and pre-vention(CDCs),county-level medical institutions and township hospitals in Tengchong City and Yingjiang County of Yunnan Province were investigated on the spot.The knowledge and usage,problems and recommendations encountered in the implemen-tation of the standard were collected.Results Totally 444 questionnaires were collected,of which 428 were valid and the valid rate of questionnaires was 96.4％.Among them,the proportion of those who knew the standard was 86.7％(371/428),and the channel of knowledge acquirement was mainly the education and training,accounting for 50.7％(188/371).The total awareness rate of objective indicators in the standard content was 65.9％(282/428).Among the frequency of utilization,the "occasional use" of this standard was the majority,accounting for 33.6％(144/428).Among the applications,the highest proportion of ap-plying to the "regular malaria prevention and control work" was 59.3％(191/322),and only 19.3％(62/322)applied to the "as-sessment for malaria elimination".In the standard suitability assessment,the proportion of considering the standard to be fully applicable was 91.3％(391/428),and the proportion of considering the standard to be revised was 8.7％(37/428).The agen-cies where the respondents were located have taken corresponding measures to promote the implementation of the standard.A to-tal of 43 proposals for the implementation of the standard were collected,relating to personnel and supporting conditions.Con-clusions Combined with the actual situation,the standard should be strengthened practically.At the same time,the standard learning,training,and publicity should be strengthened to raise the implementation level.Its implementation in Yunnan Prov-ince should be sequentially consolidated and steadily promoted.

The clinical characteristics and molecular genetics of infantile neuroaxonal dystrophy: The current research progress / 中国医师杂志

Infantile neuroaxonal dystrophy (INAD) is a rare autosome-recessive disease characterized by progressive motor and cognitive regression.The PLA2G6 gene is its causative gene,which encodes calcium-independent phospholipase A2 enzyme (iPLA2-VIA).The diagnosis of INAD is difficult because of its clinical heterogeneity,and the rate of misdiagnosis is high.The purpose of this study is to describe the clinical characteristics,molecular genetics,treatment and prognosis of INAD to improve the acknowledgement of INAD in medical workers and to help make an early diagnosis of INAD.

mRNA Expressions of T-bet, GATA-3, ROR γt and Foxp3 in peripheral blood of patients with chronic lymphocytic leukemia in different stages / 中国实验血液学杂志

<p><b>OBJECTIVE</b>This study was to investigate the mRNA expression of T-bet, GATA-3, ROR γt and Foxp3 mRNA in peripheral blood of patients with chronic lymphocytic leukemia (CLL) in different stages and explore their potential role in the pathogenesis and clinical diagnosis.</p><p><b>METHODS</b>A total of 46 newly diagnosed and untreated patients with CLL was chosen as patient group, including 16 patients in the stage of Binet A, 15 in the stage of Binet B, and 15 in the stage of Binet C; 20 healthy persons were selected as controls. The quantitative fluorescence PCR was adopted to detect the mRNA expression of T-bet, GATA-3, RORγt and Foxp3 in peripheral blood mononuclear cell (PBMNC).</p><p><b>RESULTS</b>(1) The expression of T-bet mRNA in patient group was lower than that in normal controls (P < 0.05), while the mRNA expression of GATA-3 mRNA, ROR γt, Foxp3 in CLL patients group were higher than that in normal controls (P < 0.05), and the ratio of T-bet/GATA-3 and RORγt/Foxp3 in CLL in patient group were lower than that in normal controls(P < 0.05); (2) The later the stage, the higher the mRNA expression of GATA-3 and Foxp3. The mRNA expression of GATA-3 in stage Binet B and stage Binet C of CLL patients were higher than that in stage Binet A (P < 0.05),and the mRNA expression of Foxp3 in stage Binet C was higher than that in stage of Binet A and Binet B (P < 0.05); the later the stage, the lower the ratio of T-bet/GATA-3 and RORγt/Foxp3. The ratio of T-bet/GATA-3 in stage of Binet A CLL patients was higher than that in stage Binet C (P < 0.05) and the ratio of RORγt/Foxp3 in stage of Binet A and stage of Binet B were higher than that in stage Binet C (P < 0.05).</p><p><b>CONCLUSION</b>This study found in the level of transcription factors in CLL patients that with the process of disease, the balance shifts from Th1/Th2 and Th17/Treg to Th17 and Treg, and Treg cell may play a critical immunosuppressive role in the development of CLL.</p>

Correlation of HBV genotypes to the therapeutic effect of PEG-interferon and the pathological changes of the liver of chronic hepatitis B patients / 南方医科大学学报

<p><b>OBJECTIVE</b>To study the correlation of HBV genotypes to the response to PEG-interferon alpha (PEG-IFN) in chronic hepatitis B (CHB) patients.</p><p><b>METHODS</b>Real-time fluorescent PCR was used for HBV genotyping in 48 CHB patients, and the therapeutic effects of PEG-IFN and hepatic pathological changes were observed.</p><p><b>RESULTS</b>No obvious differences were noted in ALT and HBV DNA levels or negative rate for HBeAg between patients with genotypes B and C (P>0.05). The sustained response rate was significantly higher in genotype B than in genotype C patients 48 weeks o after the therapy.</p><p><b>CONCLUSION</b>HBV genotype is the main factor for predicting PEG-IFN therapy response in CHB patients, and the sustained response rate is significantly higher in genotype B than in genotype C patients.</p>

Prevalence of erectile dysfunction and it's related factors in type 2 diabetic patients / 中华全科医师杂志

Objective To investigate prevalence of erectile dysfunction(ED)in type 2 diabetic male patients and to analyze its related factors.Methods A total of 904 married male patients with type 2 diabetes were involved in this study and they were interviewed with anonymous questionnaire.An international index of erectile function-5(IIEF-5)was used to determine the severity of ED by self-rating score in age,duration of diabetes,serum level of glycosylated hemoglobin A1c(HbA1c),history of alcohol drinking and smoking,blood pressure and anti-hypertensive medication in diabetic ED patients.Relationship between relevant factors and diabetic ED was analyzed.Results ED was diagnosed in 612 diabetics with prevalence of 67.7 percent(612/904)according to their total scores of IIEF-5.Logistic regression analysis showed that increase in duration of diabetes by five years,age by 10 years,serum level of HbAI c by 2%, systolic blood pressure by 30 mm Hg(1 mm Hg = 0.133 kPa),positive history of smoking and alcohol drinking were all independently associated with prevalence of diabetic ED,with OR of 1.96,1.25,2.32, 1.12,1.67(P