AIM:To identify intragenic mutation loci of the BEST-1 gene with congenital vitelliform macular dystrophy by molecular genetic analysis at one family in Northeast China.
METHODS: Genomic DNA was extracted from peripheral leukocyte of 2 patients and 5 healthy members in the family with vitelliform macular dystrophy and 100 normal controls. Ten exon sequences of BEST - 1 amplified by polymerase chain reaction ( PCR ) were made direct DNA sequencing to define the gene mutation loci and compared with gene screening performed on 100 normal controls.
RESULTS: After the direct DNA sequencing, no mutation loci was found in all the patients of this family with vitelliform macular dystrophy.
CONCLUSION:There is no mutation in the exons of BEST-1 gene causing disease genes in this family.

Adolescent ; Adult ; Aged ; Child ; Female ; Garlic ; chemistry ; Humans ; Male ; Middle Aged ; Moxibustion ; Pharyngitis ; therapy ; Young Adult

Objective: To learn the characteristics of varicella breakthrough cases aged under 14 years in Haizhu District, Guangzhou City and the effects of vaccination on incidence of breakthrough cases, so as to provide the basis for improving varicella vaccination strategy. Methods: Data of varicella cases aged under 14 years and vaccination in Haizhu District were collected through Chinese Disease Prevention and Control Information System and Guangdong Provincial Vaccination and Vaccine Circulation Management Information System from 2015 to 2022. Temporal distribution, population distribution and vaccination history of varicella breakthrough cases were descriptively analyzed. Effects of primary immunization age and inoculation interval on breakthrough interval were analyzed using least square method fitting bi-cubic functional equation. Results: A total of 4 008 varicella breakthrough cases aged under 14 years were reported in Haizhu District from 2015 to 2022, accounting for 29.16% of all varicella cases. There were mainly 1-dose breakthrough cases, with 3 607 cases accounting for 90.00%. The proportion of 1-dose breakthrough cases showed a downward trend, while the proportion of 2-dose breakthrough cases showed an upward trend (both P<0.05). The epidemics peaked from March to May and from November to January, with a male-to-female ratio of 1.41︰1. The age of onset was mainly at 4 to 6 years, with 1 189 cases accounting for 29.67%. The primary immunization age was mainly ranged from 12 to <24 months, with 2 662 cases accounting for 66.42%. Vaccination of the second dose was concentrated at the age of 48 to <60 months, with 136 cases accounting for 33.92%. The breakthrough interval was relatively long among cases with primary immunization age at 12 to <36 months and inoculation interval within 45 months, with a median breakthrough interval of 25.24 (interquartile range, 20.00) months. Primary immunization age and inoculation interval were negatively correlated with breakthrough interval (P<0.05). Conclusions The varicella breakthrough cases aged under 14 years in Haizhu District from 2015 to 2022 were mainly occurred at the beginning of the new term, with a high incidence among preschool children. It is recommended that children receive the first dose of varicella vaccine within 36 months of age and booster within 45 months of interval.

ObjectiveTo observe the effect of ultrashort waves combined with medication on children with cerebral dysfunction syndrome (CDS) accompanied with pneumonia.Methods76 children with CDS accompanied with pneumonia were randomly divided into treatment group (n=38, treated with anti-inflammatory and ultrashort waves one time per day for ten days) and control group (n=38, treated only with anti-inflammatory). The effective rate and the days of rales vanished of children in two groups after treatment were compared.ResultsIn the treatment group, 14 cases cured, 20 cases got significant result, 4 cases were effective, total effective rate was 100%; in the control group, 10 cases cured, 14 cases got significant result, 9 cases were effective, 5 cases were invalid, total effective rate was 86.8%. There was a significant difference between therapeutic effects of two groups ( P<0.05).ConclusionThe ultrashort waves therapy is an effective method for the children with CDS accompanied with pneumonia.

ObjectiveTo observe the effect of pioglitazone on the metabolism of glucose and lipid in patients with Impaired Glucose Regulation(IGR).Methods60 cases of IGR received conventional education on diabetes prevention,while the patients in intervention group(30 cases) accepted pioglitazone 15 mg once a day for 12 weeks.Blood pressure(BP),body weight,waist circumference,hip circumference were measured to calculate body mass index(BMI) and waist-hip ratio(WHR).The Fasting blood glucose(FBG),2 h postprandial blood glucose,glcosylated hemoglobin(GHb,HbA1C),fasting serum insulin(FINS),postprandial serum insulin(2hINS),total cholesterol(TC),triglyceride(TG),high-density lipoprotein cholesterol(HDL-C),low-density lipoprotein cholesterol(LDL-C),hepatic function,renal function were determined before and 12 weeks after intervention.ResultsAfter intervention,BP,BMI,FBG,2hBG,FINS,2hINS,HbA1C,TC,TG,LDL-C had been decreased significantly in intervention group(P<0.05 or P<0.01).There were significant differences between intervention group and control group(P<0.05 or P<0.01) in all indexes except body weight,WHR,hepatic function,renal function.ConclusionPioglitazone can obviously improve the metabolism of glucose and lipid in patients with IGR.

To reveal the variation of polysaccharides and alcohol-soluble extract contents of Dendrobium officinale, the polysaccharides and alcohol-soluble extracts contents of three D. officinale strains were determined by phenol-sulfuric acid method and hot-dip method, respectively. The results showed that the contents of polysaccharides and alcohol-soluble extracts and their total content were significantly different among D. officinale samples collected in different periods, and the variations were closely related to the phenology of D. officinale. Additionally, the quality variation of polysaccharides was closely related to the flowering of D. officinale, while the alcohol-soluble extracts was closely associated to the formation and germination of buds. According to the dynamic variation of these two compounds, it is more reasonable to harvest D. officinale at biennials pre-bloom than at specific harvesting month considering polysaccharides content. It is better to harvest before the germination of buds considering alcohol-soluble extracts. While with regards to both polysaccharides and alcohol-soluble extract, it is better to harvest this plant at the period from the sprouting to pre-bloom next year.
Dendrobium ; chemistry ; Plant Extracts ; isolation & purification ; Polysaccharides ; isolation & purification

AIM: To determine the association between subfoveal choroidal thickness before therapy and therapeutic activity in diabetic macular edema.
METHODS: The current study was a retrospective study, which included 32 patients ( 32 eyes ) diagnosed with diabetic retinopathy and macular edema. All the patients were firstly treated with intravitreal injections of ranibizumab. Main outcome measures were included the subfoveal choroidal thickness, central macular thickness and best-corrected visual acuity ( BCVA) at preoperation and postoperative visit at 3mo.
RESULTS: After 3 monthly intravitreal injections of ranibizumab, the BCVA was significantly higher than that before therapy and accompanied with significantly reduced thickness of subfoveal choroid and central fovea of macula. Spearman analysis was revealed that a greater baseline subfoveal choroidal thickness was associated with a better BCVA (rs=0. 544, P=0. 036).
CONCLUSION:In the therapy of intravitreal injections of ranibizumab on diabetic macular edema, there seems to be a better BCVA in the patients with a greater baseline subfoveal choroidal thickness. Therefore, baseline subfoveal choroidal thickness may be a useful predictor for the therapy of diabetic macular edema.

Adolescent ; Child ; Child, Preschool ; Cytomegalovirus Infections ; complications ; Female ; Humans ; Kidney Diseases ; etiology ; Kidney Glomerulus ; pathology ; Male

OBJECTIVE: To explore the effects and mechanism of interleukin-2 on the isolated rat ventricular papillary muscle and cultured cardiomyocyte. METHODS: The isolated rat papillary muscle and cultured neonatal rat cardiomyocyte were used to determine the effects on contractile properties and spontaneous beating. RESULTS: IL-2 inhibited the contractile force of isolated rat papillary muscle and reduced the spontaneous beating rate of cultured neonatal rat cardiomyocytes in a dose-dependent manner. IL-2 at high concentration reduced the systolic duration and prolonged the diastolic duration. Pretreatment with L-NAME, an inhibitor of nitric oxide synthase,abolished the effects of IL-2. Heat inactivated IL-2 had no effect on papillary muscles and cardiomyocytes.CONCLUSION: Inhibitory effects of IL-2 on the contraction of isolated papillary muscle and spontaneous beating rate of cultured neonatal cardiomyocyte are mediated by nitric oxide.

ObjectiveTo explore the prevalence and spectrum of β-thalassemia mutations in Fujian province,and to provide a reference for prenatal diagnosis and genetic counseling in this population.Methods Two thousand three hundred and one blood samples were randomly selected from 9 different areas of Fujian province from May 2008 to December 2010.PCR and reverse dot blot hybridization (RDB) were adopted for detection of the 17 common types of mutation,and the frequency of each genotype of β-thalassemia mutations was calculated.The β-globin gene of unknown positive samples were analyzed directly with DNA sequencing.Results Three hundred and fifty-nine cases were detected with β-thalassemia mutations of the 2301 copy blood samples submitted,and the detection rate was 15.60％ (359/2301).Of the mutated genes,12 different mutations were identified,namely IVS-2-654(C→T),CD41-42(-TCTT),CD17(A→T),-28(A→G),CD27-28(+C),CD26(G→A),CD71-72(+A),IVS-1-1(G→T),CD43(G→T),-29(A→G),initiation codon ATG→AGG and CD36(-C).Mutation frequencies were 46.54％ (175/376),33.24％ (125/376),9.31％ (35/376),5.05％ (19/376),2.13％(8/376),1.33％(5/376),0.80％(3/376),0.27％(1/376),0.27％(1/376),0.27％(1/376),0.53％(2/376),and 0.27％(1/376),respectively.The most common mutations were IVS-2-654 (C→T) and CD41-42 (-TCTT),which accounted for 79.78％(300/376) of total genetic mutations.In addition,a novel β-globin gene mutation CD36 (-C) allele was detected for the first time,the deletion of a nucleotide C at code 36 within exon 2 lead to a frameshift mutation that could result in a premature termination at code 60.Conclusions β-thalassemia mutations in Fujian province are complex with significant genetic heterogeneity.We present for the first time the detection of a new β-thalassemia mutation in the population:CD36(-C),which provides valuable information for genetic counseling and prenatal diagnosis in Fujian province.