Objective To understand well this disease,8 children with familial periodic paralysis(FPP) were reported and the(rela)-ted literatures were reviewed.Methods The hereditary characters,clinical manifestations,auxiliary examination and managements were summarized retrospectively in 8 cases of FPP patients hospitalized from January 1996 to December 2005,and etiopathogenis and diagnosis were also analyzed.Results Six cases of FPP were diagnosed as hypokalemic periodic paralysis,and all occured as an autosomal dominant condition.During paralytic episodes,the patients showed obviously low serum potassium levels [1.9-2.8 mmol/L,(2.4?0.38) mmol/L)] and hypokalemic electrocardiogram findings,such as U-wave.The level of blood glucose was lower than normal range.Other 2 cases with normal serum potassium ion level at attack were diagnosed as normokalemic periodic paralysis with autosomal dominant pattern.One of the two cases,the level of blood glucose was lower.Thyroid functions,renal functions and electromyograms were all normal in 8 cases.Conclusions FPP is a group of relatively uncommon inherited disorders known as the skeletal muscle channelophathies.It can be diagnosed by hereditary characters,clinical manifestataions,auxiliary examinations.

Objective To study the macrophage colony-stimulating factor(M-CSF)expression levels of serum and synovial fluids from patients with spondyloarthropathy(SPA)and its contribution to the pathogen- esis of SpA.Methods Eleven SpA synovial tissue samples were compared to those from peripheral blood mononuclear cells(PBMC)of 10 normal subjects using a 1176 gene array.M-CSF was detected in both serum samples and synovial fluids by enzyme linked immunosorbent assay(ELISA).Two groups of AS subjects were tested.The first group consisted of 41 ankylosing spondylitis(AS)patients who had not been treated with bio- logics.The second group consisted of 13 subjects whose serum samples were collected before and 14 weeks af- ter initiation of infliximab.These were compared to serum samples from 28 normal subjects,and synovial fluid samples from 15 SpA patients.Results Expression of M-CSF could be detected in both serum samples and synovial fluids.The concentration of M-CSF in the group of 41 AS patients not treated with biologics correlated with the Bath Ankylosing Spondylitis Disease Activity Index(BASDAI)values(r=0.41,P=0.004).Treatment of infliximab in AS patients led to a significant decrease in the values of BASDAI(P=0.000 07),but no signif- icant change in the serum M-CSF values.Conclusion M-CSF is a promising candidate for research on the mechanisms of SpA and its signaling on pathway in SpA is different from tumor necrosis factor(TNF)-?,and it may provide new basis for developing new anti-biologics for SpA.

OBJECTIVETo study the expression of histone acetyltransferases (HATs) and histone deacetylases (HDACs) in children with tetralogy of Fallot (TOF), and to investigate the role of histone acetylation and acetylation-related enzymes in the pathogenesis of TOF.

METHODSMyocardial tissue samples in the TOF group were obtained from 46 children with TOF who underwent radical operation, and myocardial tissue samples in the control group were obtained from 16 children who suffered accidental deaths and had no cardiac anomalies as shown by autopsy. The acetylation of H3K9, H3K18 and H3K27 was evaluated by immunohistochemistry. The mRNA expression of HATs and HDACs in the myocardium was measured by real-time PCR. The correlation between mRNA expression of HATs and HDACs and histone acetylation was analyzed.

RESULTSCompared with the control group, the TOF group showed significantly increased acetylation of H3K9 (P=0.0165) and significantly decreased acetylation of H3K18 (P=0.0048) and H3K27 (P=0.0084). As to 4 HATs and 6 HDACs, the mRNA expression of EP300 and CBP was significantly higher in the TOF group than in the control group (P=0.025; P=0.017), and there was no significant difference in the mRNA expression of other HATs and HDACs between the two groups. The correlation analysis revealed a positive correlation between H3K9 acetylation and mRNA expression of EP300 (r=0.71, P<0.01) and CBP (r=0.72, P<0.01).

CONCLUSIONSUpregulated mRNA expression of EP300 and CBP may be associated with increased H3K9 acetylation, suggesting that EP300 and CBP might affect cardiac development by regulating H3K9 acetylation.

Acetylation ; E1A-Associated p300 Protein ; genetics ; Female ; Histone Acetyltransferases ; genetics ; Histone Deacetylases ; genetics ; Histones ; metabolism ; Humans ; Infant ; Male ; Myocardium ; metabolism ; Peptide Fragments ; genetics ; RNA, Messenger ; analysis ; Sialoglycoproteins ; genetics ; Tetralogy of Fallot ; metabolism

BACKGROUNDRheumatoid arthritis (RA) is an autoimmune disease characterized by chronic inflammation at the synovial membrane. Although great progress has been made recently in exploring the etiology and pathogenesis of RA, its molecular pathological mechanism remains to be further defined and it is still a great challenge in determining the diagnosis and in choosing the appropriate therapy in early patients. This study was performed to screen candidate RA-associated serum proteins by comparative proteomics to provide research clues to early diagnosis and treatment of RA.

METHODSSera isolated from 6 RA patients and 6 healthy volunteers were pooled respectively and high-abundance proteins were depleted by Plasma 7 Multiple Affinity Removal System. The protein expression profiles between the two groups were then compared by two-dimensional gel electrophoresis (2-DE) and the proteins over/under-expressed by more than 3-fold were identified by mass spectrometry analysis. To validate the differential expression levels of the identified proteins between the two groups, ELISA was performed in two of the identified proteins in individual sera from 32 RA patients and 32 volunteers.

RESULTSEight proteins which over/under-expressed in sera of RA patients were identified. Among them, chain A of transthyretin (TTR) was under-expressed, while serum amyloid A protein, apolipoprotein A (ApoA)-IV, ApoA-IV precursor, haptoglobin 2, ceruloplasmin (Cp), immunoglobulin superfamily 22 and HT016 were over-expressed. ELISA test confirmed that Cp expressed remarkably higher while TTR obviously lower in RA group compared with volunteer group.

CONCLUSIONThere were 8 identified proteins differentially expressed between RA group and volunteer group, which might be candidate RA-associated proteins and might be promising diagnostic indicators or therapeutic targets for RA.

Adult ; Apolipoproteins A ; blood ; Arthritis, Rheumatoid ; blood ; Blood Proteins ; analysis ; Ceruloplasmin ; analysis ; Electrophoresis, Gel, Two-Dimensional ; Enzyme-Linked Immunosorbent Assay ; Female ; Humans ; Male ; Middle Aged ; Prealbumin ; analysis ; Proteomics ; Serum Amyloid A Protein ; analysis

OBJECTIVETo study the prevalence of different types of neural tube defects (NTDs) in Luliang Prefecture, Shanxi province, where the prevalence of NTDs is unusually high and the correlation between NTDs prevalence and patterns.

METHODSA surveillance population-based birth defects was performed in Luliang Prefecture, Shanxi province.

RESULTSThe results of our study showed that the prevalence of NTDs was 2-fold higher in Luliang Prefecture than in other areas of Shanxi province. Unusual patterns of NTDs were found, however, multiple NTDs were relatively common in Luliang Prefecture, accounting for over 13% of all NTDs cases in China.

CONCLUSIONThe prevalence of NTDs is associated with its patterns.

Child, Preschool ; China ; epidemiology ; Humans ; Infant ; Infant, Newborn ; Neural Tube Defects ; classification ; epidemiology ; Risk Factors

Objective:To investigate the clinical characteristics,coexisting gene mutations and prognosis of acute myeloid leukemia(AML)patients with GATA2 gene mutation.Methods:The clinical data of 370 newly diagnosed AML patients treated in our hospital from January 2008 to January 2021 was analyzed retrospectively,the next-generation sequencing technology was used to detect the mutated genes in those patients.The clinical characteristics of AML patients with GATA2 mutations,the co-mutated genes of GATA2 mutations,and the effect of GATA2 mutation on prognosis were analyzed.Results:A total of 23 patients(6.2％)with GATA2 mutation was detected in 370 AML patients.Compared with GATA2 non-mutation group,patients in GATA2 mutation group were mostly normal karyotypes(P=0.037)and in low-risk cytogenetic stratification(P=0.028).The incidence of CEBPAdm and NRAS in GATA2 mutation group was significantly higher than that in GATA2 non-mutation group(P=0.010,P=0.009).There were no statistically significant differences between the two groups in terms of sex,age,white blood cell count(WBC),platelet count,hemoglobin,bone marrow(BM)blast,induction chemotherapy regimen and CR rate(P＞0.05).Among the 23 patients with GATA2 mutation,the most common co-mutated genes were CEBPAdm,NRAS(both 39.1％),NPM1,FLT3,TET2,WT1(all 17.4％),ASXL1 and IDH1(both 13.0％).Survival analysis showed that there was no statistical difference in 5-year overall survival(OS)and leukemia-free survival(LFS)rates between patients with and without GATA2 mutations in whole cohort(n=370)(P=0.306,P=0.308).Among 306 patients without CEBPAdm,the 5-year OS and LFS rates in GATA2 mutation group showed an increasing trend compared with GATA2 non-mutation group,but the difference was not statistically significant(P=0.092,P=0.056).Among 64 patients with CEBPAdm,there was no statistically significant difference in 5-year OS rate between the GATA2 mutation group and the GATA2 non-mutation group(P=0.104),but the 5-year LFS rate of the GATA2 mutation group was significantly decreased(P=0.047).Among the 23 patients with GATA2 mutation,16 cases received the"3+7"induction regimen,of which 12 cases received allogeneic hematopoietic stem cell transplantation(allo-HSCT);7 cases received the"DCAG"induction regimen,of which 3 cases received allo-HSCT.The CR rate was not statistically different between the"3+7"regimen group and the"DCAG"regimen group(P=1.000).The 5-year OS rate and LFS rate in the transplantation group were significantly higher than the chemotherapy group(P=0.021,P=0.020).Conclusion:GATA2 mutation is more common in AML patients with normal karyotype and low-risk cytogenetic stratification,and it is significantly associated with CEBPAdm and NRAS co-mutations.The prognostic significance of GATA2 is influenced by CEBPAdm.The choice of"3+7"or"DCAG"induction regimen in patients with GATA2 mutation does not affect their CR rate,while the choice of allo-HSCT can significantly improved the prognosis compared with chemotherapy only.

Objective: To understand the status of autism spectrum disorder (ASD) cohort studies and explore the feasibility of constructing ASD disease-specific cohorts based on real-world data (RWD). Methods: ASD cohort studies published by December 2022 were collected by literature retrieval from major Chinese and English databases. And the characteristics of the cohort were summarized. Results: A total of 1 702 ASD cohort studies were included, and only 60 (3.53%) were from China. A total of 163 ASD-related cohorts were screened, of which 55.83% were birth cohorts, 28.22% were ASD-specific cohorts, and 4.91% were ASD high-risk cohorts. Most cohorts used RWD such as hospital registries or conducted community-based field surveys to obtain participant information and identified patients with ASD by scales or clinical diagnoses. The contents of the studies included ASD incidence and prognostic risk factors, ASD comorbidity patterns and the impact of ASD on self-health and their offspring's health. Conclusions: ASD cohort studies in developed countries have been in the advanced stage, while the Chinese studies are still in their infancy. RWD provides the data basis for ASD-specific cohort construction and offers new opportunities for research, but work such as case validation is still needed to ensure the scientific nature of cohort construction.
Humans ; Autism Spectrum Disorder ; Cohort Studies ; Databases, Factual

Needle retention is an important step in the acupuncture procedure. How to optimize scientifically the duration of needle retention according to individual case has been considered in the medical circle. In this paper, by collecting the literatures on needle retention from the early dynasty to the contemporary time, the evolution of the needle retention from a short duration to a long one with the productivity improvement was elaborated. On the base of the views of the medical scholars of all dynasties, it was concluded that the ultimate purpose of needle retention is to improve the effects of acupuncture on the premise of ensuring the safety of acupuncture. Hence, the clinical physician should optimize the duration of needle retention cautiously in compliance with the tolerance of patient so as to save the time cost of both physician and patient, avoid the occurrence of tolerable effect of acupuncture and reduce the potential safety hazard of acupuncture induced by the long duration of needle retention.
Acupuncture Therapy ; Humans ; Moxibustion ; Needles ; Physicians ; Time Factors