OBJECTIVE: To analyze the clinical features and prognosis in patients with primary Sjögren's syndrome (pSS) and autoimmune liver diseases (ALD). METHODS: A retrospective analysis of clinical manifestation and prognosis was performed in patients with ALD or without ALD during the three years (February 2014 to December 2017). RESULTS: Totally, 203 patients with pSS were included in this study, 68 patients had ALD (31 patients with autoimmune hepatitis, 37 patients with primary biliary cholangitis), while 135 patients did not have ALD. There were no differences between the two groups regarding age, gender, clinical manifestations, such as dry mouth, dry eyes, pain, fatigue, lymphadenopathy, glandular swelling, cutaneous involvement, lung involvement, and renal involvement, and the incidence rate of other autoimmune diseases, such as autoimmune thyroid disease, rheumatoid arthritis, and vasculitis. There were also no differences in the titer of antinuclear antibody (ANA), the positive rates of anti-Sjögren's syndrome A antibody (SSA), SSA52, and anti-Sjögren's syndrome B antibody (SSB), and at the levels of erythrocyte sedimentation rate and C-reactive protein between the two groups. Most importantly, the pSS patients with ALD had a shorter disease course, a higher positive rate of anti-mitochondrial M2 antibody (AMA-M2) and anti-centromere antibody, a higher level of IgG and IgM, a lower level of complement 3, and a decreased number of blood cells. They also had a higher level of liver related serum index, such as alanine aminotransferase, aspartate aminotransferase, gamma-glutamyl transferase, alkaline phosphatase and total bilirubin, direct bilirubin, indirect bilirubin, a higher incidence rate of liver cirrhosis, an increased death incident (the mortality was 13.24% in the pSS patients with ALD, while 2.96% in the controls, P=0.013), and a worse prognosis. Binary Logistic regression analysis revealed that liver cirrhosis, the EULAR Sjögren's syndrome disease activity index (ESSDAI) scores and the level of total bilirubin were the prognostic factors of mortality in the pSS patients with ALD. The survival curve was estimated by the Kaplan-Meier method. It demonstrated that the pSS patients with ALD had a lower survival rate when compared with the controls. CONCLUSION The patients with both pSS and ALD will suffer from a more severe disease and a higher death incident. We should pay more attention to these patients and provide a better symptomatic treatment for them during clinical practice.
Hepatitis, Autoimmune/epidemiology* ; Humans ; Liver Cirrhosis, Biliary ; Prognosis ; Retrospective Studies ; Sjogren's Syndrome/epidemiology*

OBJECTIVEThe purpose of this study was to clone and analyze mutation in the eda-A1 gene for hypohidrotic ectodermal dysplasia (HED), and to construct a new recombined eukaryotic expression vector (mutant M, wild W) as a basis for further study on the genetic function.

METHODSAfter total mRNA was extracted from peripheral blood lymphocytes from the HED affect patient and control, eda-A1 gene was amplified by reverse transcription polymerase chain reaction (RT-PCR) with a pair of specific primers containing the constriction enzyme sites of BamH I and Hind III. When the vector pcDNA3.1(-) and eda-A1 (M/W) were digested by BamH I and Hind III respectively, eda-A1 (M/W) fragment was then ligated to vector pcDNA3.1 (-) and the new vector was named as pcDNA3.1 (-)-eda-A1-M/W.

RESULTSeda-A1 gene was successfully cloned and a novel missence mutation was identified, which changes the codon 306 from glutamine to proline. PCR, restrictive endonuclease analysis and DNA sequencing were then performed to identify the recombinant eukaryotic expression vector pcDNA3.1 (-)-eda-A1-M/W, and the results were surely confirmed.

CONCLUSIONOur result indicates that the novel missense mutation in eda is associated with the isolated tooth agenesis and provide preliminary explanation for the abnormal clinical phenotype at a molecular structural level. And also, the recombinant eukaryotic expression vector pcDNA3.1 (-)-eda-A1-M/W was successfully constructed, which will be thereafter taken use of further study on eda gene in odontogenesis.

Ectodermal Dysplasia 1, Anhidrotic ; Genetic Vectors ; Humans ; Mutation ; Odontogenesis ; RNA, Messenger ; Sequence Analysis, DNA

Objective To optimize the preparation of nanoparticles (NP) encapsulating antisense oligodeoxynucleotides (ASODN) and investigate the effects on inhibition of C6 glioma cells. Methods ASODN coated in NT were prepared by interfacial polymerization of butyleyanoacrylate (BCA). Inverted microscope was used to observe the viability of C6 cells transfected by free ASODN, ASODN in NP, ASODN-NP (ASODN sticking to NP) and BCA-NP, respectively. Cell cycle of C6 cells was studied by flow cytometry (FCM), and CCK-8 assay was performed to examine the cytotoxicity and proliferation of C6 cells. Results Compared with the control group, all groups, except BCA-NP group, after transfection with NPs appeared cell morphological changes; C6 cells were detached from the matrix, the cell density was reduced and the cell viability was poor; ASODN in NP group was most significant in a time-dependent manner. The cell cycle in ASODN-in-NP group varied obviously compared with the BCA-NP group, and the number of the cells in the GO/GI phase was increased and the cell number in S phase was decreased significantly (P<0.05). The results of CCK-8 assay showed that all groups, but BCA-NP group, produced the inhibition of the cell proliferation to different degrees, and the inhibitory effect was increased with the final concentration increment, especially remarkably in ASODN-in-NP group (P<0.05). Conclusion ASODN in NP can inhibit the proliferation and cause cell cycle changes of C6 cells effectively after transfected with ASODN in NP, exerting significantly growth inhibitory effect on C6 glioma cells.

OBJECTIVETo investigate the risk factors on female breast cancer in Zhejiang province.

METHODSA case-control study was conducted in 200 cases of female breast cancer with histopathological diagnosis and 200 matched controls from Zhejiang province.

RESULTSUnivariate conditional logistic regression showed that family history of malignant tumor and breast cancer, housing decoration in last 10 years, mammary hyperplasia, adverse life events, bra with steel rings, sleeping with bra, high fat and pickle intake, poor sleep were positively related to breast cancer; whereas environmental friendly decoration materials, long decoration time interval, workplace condition, more lactation and parity, high fruits intake, sufficient sleep were negatively related to breast cancer. Multivariate conditional logistic regression analysis showed that the risk factors included family history of other tumors [odds ratio (OR)= 1.571,95% confidence interval(CI):1.029-2.396],mammary hyperplasia (OR=3.066,95%CI:1.834-5.126), job-related life events (OR=4.575,95%CI:1.690-12.390),the death of a loved one (OR=2.555,95%CI:1.475-4.424), wearing bra at night (OR=1.902,95%CI:1.177-3.072),high fat intake (OR=2.709,95%CI:1.546-4.749) and salted food (OR=2.460,95%CI:1.300-4.653). Factors as environmental friendly decoration materials (OR=0.517,95%CI:0.339-0.789),workplaces condition (OR=0.430,95%CI:0.243-0.762),more lactation (OR=0.109,95%CI:0.013-0.896),enough sleep (OR=0.424,95%CI:0.205-0.880) were protective factors.

CONCLUSIONHereditary,psychological factors,lifestyle,environment and diet related factors are significantly associated with risk of breast cancer.

Breast Neoplasms ; etiology ; Case-Control Studies ; China ; epidemiology ; Female ; Humans ; Logistic Models ; Multivariate Analysis ; Risk Factors

Adolescent ; Adult ; Female ; Humans ; Male ; Mercury ; urine ; Middle Aged ; Reference Values ; Spectrophotometry, Atomic

The three death cases of falciparum malaria in Wenzhou City were all imported from Africa. One patient died on 10 January 2007 because of severe clinical symptoms after hospitalization. The second case was initially misdiagnosed as influen-za in primary health and medical institution. The patient's condition quickly worsened and died of Plasmodium falciparum infec-tion on 5 March 2011. The third patient belonged to"non-identity"person,and there were no detailed information and epidemio-logical history on admission,which resulted in the delayed diagnosis,disease exacerbation and death. In conclusion,the health education should be provided to the people who return from Africa and also to medical workers in order to reduce the mortality of falciparum malaria.

OBJECTIVETo investigate the effect of Colquhounia root tablet on IL-2 and IFN-γ mRNA expression in experimental allergic encephalomyelitis (EAE) of rats.

METHODSThe allergic encephalomyelitis model was established in Wistar rats by immunization with myelin basic protein of spinal cord of guinea pig and complete Freund's adjuvant. The rats in treatment group received Colquhounia root tablet (300 mg*kg(-1), BID). The symptom of EAE was observed; pathological feature and myelin of brain and spinal cord were detected with HE stain and Loyez's stain, respectively. The expressions of IL-2 and IFN-γ mRNA were assayed by RT-PCR.

RESULTSNo EAE symptoms were developed in treatment group, the expressions of IL-2 and IFN-γ mRNA were 0.345 ± 0.032 and 0.353 ± 0.023, which were significantly lower than those of model group (P<0.01). The histopathologic examinations revealed that less inflammation cells around vessels and demyelination in white matter of brain and spinal cords were observed in treatment group than in model group.

CONCLUSIONColquhounia root tablets are effective in treatment of EAE of rats, which may be associated with inhibition of the expression of IL-2 and IFN-γ mRNA.

Animals ; Brain ; drug effects ; metabolism ; Disease Models, Animal ; Drugs, Chinese Herbal ; pharmacology ; therapeutic use ; Encephalomyelitis, Autoimmune, Experimental ; drug therapy ; metabolism ; Female ; Guinea Pigs ; Interferon-gamma ; metabolism ; Interleukin-2 ; metabolism ; Male ; Rats ; Rats, Wistar ; Tripterygium

OBJECTIVETo evaluate the prospective validity and predictive value of cerebral palsy during infancy, using 'Infant Motor Malfunction Profile'.

METHODSItems of motor milestone in the profile was used as the first step to screen cerebral palsy on 8137 infants who were screened at 3, 6, 9, 12 months of age. The positive cases who had one of 7 developmental abnormal motor milestone items were examined using the items of primitive reflexes or postural reaction as the secondary step of cerebral palsy screening. The cases who had at least one abnormal item of primitive reflex or postural reaction received neurological examination by doctors to diagnose cerebral palsy.

RESULTSAccording to our data, sensitivity, specificity, positive prospective value, positive and negative likelihood ratio of the profile in screening cerebral during infancy were 94.1%, 99.8%, 48.5%, 449.6 and 0.06, respectively.

CONCLUSIONThe profile seemed to be an acceptable instrument for early identification of cerebral palsy.

Cerebral Palsy ; diagnosis ; Female ; Humans ; Infant ; Male ; Mass Screening ; methods ; Prospective Studies ; Sensitivity and Specificity

Objective To investigate the clinical features and genetic characteristics of patients with late-onset Pompe disease(LOPD).Methods A total of 13 patients diagnosed with LOPD in the First Affilia-ted Hospital of Zhejiang University School of Medicine from September 2020 to December 2023 were selected,and all patients were subjected to clinical investigation,GAA activity detection and GAA gene testing.Results Among the 13 patients,7 were males and 6 were females;5 were family patients and 8 were sporadic patients;and the median age of onset was 17 years(8-52 years),the median age of presentation was 24 years(10-52 years),and the median age of diagnosis was 31 years(14-58 years).In terms of the first symptoms,10 pa-tients presented with limb weakness and 3 patients presented with dyspnea.The average serum creatine kinase level was 552 U/L(55-1084 U/L),and the serum creatine kinase level was normal in one patient.All pa-tients had scoliosis and different degrees of restrictive ventilatory dysfunction.Neuroelectrophysiological exami-nations of 9 patients showed myogenic damage,and 8 of them had muscle tonic discharge.The mean value of GAA activity was 0.3 μmol/(L·h)[0.17-0.5 μmol/(L·h)].A total of 13 mutations were detected in GAA gene,and the most common mutation was c.2238G＞C(p.W746C).There were five new variant sites:c.543del(p.F181Lfs*40),c.839_840insCC(p.R281Pfs*34),c.1800_1823del(p.S601_R608del),c.2296T＞C(p.Y766H)and c.995C＞A(p.S332*).Conclusions LOPD is a rare disease that tends to delay diagnosis.Proximal limb weakness,decreased respiratory function,mild-to-moderate elevation of creatine kinase,scoliosis,and clinical inferior tonic discharge on electromyography are high-risk images of LOPD.c.2238G＞C(p.W746C)is a hotspot mutation,and the discovery of five new mutations enriches the GAA gene mutations lineage.

OBJECTIVE: To analyze the clinical features and genetic variants in a 13-month-old child with Bloom syndrome. METHODS: Clinical data of the child was collected. Genetic variants were detected by high-throughput sequencing and Sanger sequencing. RESULTS: The child was born at full term but was small for gestational age. His clinical features included loss of appetite, severe growth retardation, microcephaly, and small mandible. Genetic testing found that he had carried compound heterozygous c.1068+3A>C and c.1069-1G>C variants of the BLM gene, both of which were unreported previously. CONCLUSION Bloom syndrome is mainly characterized by severe growth retardation in infancy. The novel variants have expanded the variant spectrum of the BLM gene.