ABSTRACT
This study reported a family of mitochondrial diabetes mellitus complicated with chronic hereditary pancreatitis. A 18-year-old woman presented with self-reported hyperglycemia and chronic epigastric pain was admitted to our hospital. Clinical data and family history were collected. Mitochondrial gene sequencing and whole exon gene sequencing showed that the proband carried mutation of mt.3243A>G and heterozygous mutation of SPINK1 c. 194+ 2T>C, which was considered as mitochondrial diabetes mellitus with chronic pancreatitis.
ABSTRACT
Background@#Bovine papilloma is a neoplastic disease caused by bovine papillomaviruses (BPVs), which were recently divided into 5 genera and at least 24 genotypes. @*Objectives@#The complete genome sequence of BPV type 15 (BPV Aks-02), a novel putative BPV type from skin samples from infected cows in Southern Xinjiang China, was determined by collecting warty lesions, followed by DNA extraction and amplicon sequencing. @*Methods@#DNA was analyzed initially by polymerase chain reaction (PCR) using the degenerate primers FAP59 and FAP64. The complete genome sequences of the BPV Aks-02 were amplified by PCR using the amplification primers and sequencing primers. Sequence analysis and phylogenetic analysis were performed using bio-informatic software. @*Results@#The nucleotide sequence of the L1 open reading frame (ORF) of BPV Aks-02 was 75% identity to the L1 ORF of BPV-9 reference strain from GenBank. The complete genome consisted of 7,189 base pairs (G + C content of 42.50%) that encoded 5 early (E8, E7, E1, E2, and E4) and 2 late (L1 and L2) genes. The E7 protein contained a consensus CX2CX29CX 2 C zinc-binding domain and a LxCxE motif. Among the different members of this group, the percentages of the complete genome and ORFs (including 5 early and 2 late ORFs) sequence identity of BPV Aks-02 were closer to the genus Xipapillomavirus 1 of the Xipapillomavirus genus.Phylogenetic analysis and sequence similarities based on the L1 ORF of BPV Aks-02 revealed the same cluster. @*Conclusions@#The results suggest that BPV type (BPV Aks-02) clustered with members of the Xipapillomavirus genus as BPV 15 and were closely related to Xipapillomavirus 1.
ABSTRACT
Objective:To analyze the clinical characteristics and gene detection methods of pseudohypertrophic muscular dystrophy, and to provide evidence for gene diagnosis and genetic counseling.Methods:Ten patients with pseudohypertrophic muscular dystrophy diagnosed clinically in the First Affiliated Hospital of Henan University of Science and Technology from March 2018 to March 2019 were selected. The clinical features were analyzed and multiplex ligation probe amplification technique (MLPA) was detected, and exon sequencing was performed in some patients.Results:Ten patients with clinical diagnosis were diagnosed as pseudohypertrophic muscular dystrophy in 9 cases and limb band muscular atrophy in 1 case. The ratio of male to female was 8∶1 in 9 cases. Exon region large deletion of Duchenne muscular dystrophy (DMD) gene was found in 6 cases, and point new mutation in 3 cases. The three possible new mutations of DMD gene were c. 10222delA、c.5697dupA、c.676_678del.Conclusions:Patients with typical symptoms but inconsistent with X-linked recessive inheritance still need DMD genetic detecting; patients with negative MLPA testing need full exon sequencing; patients with mental retardation should pay attention to avoid misdiagnosis.
ABSTRACT
Objective@#This study was carried out to analyze the clinical characteristics of pseudohypopara-thyroidism(PHP) type 1b, and to improve the understanding and diagnosis of the disease.@*Methods@#Five patients with molecular diagnosis of pseudohypoparathyroidism type 1b in our hospital during 2018 were enrolled, their clinical data, biochemical indicators, imaging, and gene detection results were analyzed.@*Results@#There were 4 females and 1 male, with low calcium, high phosphorus and high PTH serum concentrations. The onset age span was large and the onset symptoms were different. Family history may not be obvious. There was abnormal methylation of GNAS gene or deletion of exon STX16 in methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) detection while gene sequencing result was negative.@*Conclusion@#MS-MLPA detection was still needed in patients with suspected PHP but negative gene sequencing result. Different methylation abnormalities and copy number variations might be correlated with the onset symptoms and familial of type 1b PHP.
ABSTRACT
Objective This study was carried out to analyze the clinical characteristics of pseudohypopara-thyroidism(PHP) type 1b, and to improve the understanding and diagnosis of the disease. Methods Five patients with molecular diagnosis of pseudohypoparathyroidism type 1b in our hospital during 2018 were enrolled, their clinical data, biochemical indicators, imaging, and gene detection results were analyzed. Results There were 4 females and 1 male, with low calcium, high phosphorus and high PTH seran con centrations. The onset age span was large and the onset symptoms were different. Family history may not be obvious. There wer was abnormal methylation of GNAS gene or deletion of exon STX16 in methylation-specific multiplex ligation-dependent probe amplification ( MS-MLPA ) detection while gene sequeming result was negative. Conclusion MS-MLPA detection was still needed in patients with suspected PHP but negative gene sequencing result. Different methylation abnormalities and copy number variations might be correlated with the onset symptoms and familial of type 1b PHP.
ABSTRACT
This study aimed to examine whether ophiopogonin D (OP-D) is capable of protecting cardiomyocytes against DOX-induced injury and the mechanisms involved. H9c2 cells were cultured. MTT assay was used to evaluate cell viability and toxicity. Mito-tracker as fluorescence probe was used to measure ROS content raised from mitochondria. The mRNA and protein expression of ATF6alpha, GRP78 and CHOP were analyzed using real-time PCR and Western blotting, respectively. The results showed that a significant endoplasmic reticulum stress (ERS) was induced upon exposure of H9c2 cells to DOX as indicated by the increase in the expression of ERS related proteins, which was paralleled with the accumulation of reactive oxygen species (ROS) and decrease in the viability of H9c2 cells. Whereas, DOX-induced ROS accumulation and up-regulation of ERS related proteins were partially abolished by pretreatment with OP-D. Consequently, a DOX-induced ERS was mitigated by application of OP-D. Similarly, DOX-induced decrease in cell viability was partially attenuated by either inhibiting CHOP or pretreatment with N-acetylcysteine (NAC), an antioxidant. Moreover, cardiac ultrastructural abnormalities seen in mouse receiving DOX injections were obviously ameliorated by pretreatment of OP-D. Taken together, the present study proved that OP-D protects cardiomyocytes against DOX-induced injury, at least in part, through reducing ROS accumulation and alleviating ERS.
ABSTRACT
BACKGROUND:Several studies have shown the improvement of heart function through the introduction of mesenchymal stem cells(MSCs)from bone marrow,which may be attributed to secretion of various cytokines that accelerate endogenous reparative process,but not regeneration of cardiomyocytes.OBJECTIVE:To observe the anti-apoptotic effects of MSCs on adriamycin(ADR)-injured cardiomyocytes apoptosis in vitro through paracrine pathway.METHODS:In vitro cultured neonatal rat cardiomyocytes(3×10~8/L)were incubated into a 6-well plate,3 mL/well.72 hours later,these cells were assigned into 3 groups.The primary cultured neonatal rat cardiomyocytes in the ADR-injured and coculture groups were exposed to 1 mg/L ADR for 4 hours to establish experimental models of toxic cardiomyocytes.The normal control group was left intact.In the coculture group,rat bone marrow MSCs(BMSCs)at passage 3 were regulated to 3×10~8/L,3 mL/well was added into Millicell device for 24 hours.Following model induction,the Millicell device was inseted into above-mentioned 6-well plate to establish coculture system.The levels of cytokines were measured in the conditioned medium from three cardiomyocytes groups.Effects of BMSCs on Caspase-9 and Caspase-3 activities,apoptosis and Bcl-2 and Bax protein expression in ADR-injured cardiomyocytes were measured.RESULTS AND CONCLUSION:Compared with the normal control group.the level of cytokine including insulin-like growth factor (IGF-1)and hepatocyte growth factor(HGF)was significantly higher in the medium from ADR-injured group.the activity of caspase-9,caspase-3 and the apoptosis rate increased significantly,the expression of Bax protein was higher and Bcf-2 Protein was lower in ADR-injured group(P ＜ 0.05).Compared with the ADR-injured group,the level of IGF-1 and HGF in co-cultured group increased significantly,the apoptosis rate,Caspase-3 and Caspase-9 activities decreased significantly,the expression of Bax protein was lower while Bcl-2 Protein was higher than ADR-injured group(P ＜ 0.05).Results indicated that BMSCs show increased cytokine secretion and significant anti-apoptotic effects on ADR-injured cardiomyocytes through paracrine pathway.
ABSTRACT
Objective To evaluate the applicable value of two - dimensional speckle tracking imaging on assessing the local function and coronary collateral circulation of acute myocardial ischemia in dogs.Methods Open-chest model to induce acute myocardial ischemia in 10 dogs was established by ligating their anterior descending coronary artery(LAD). Two-dimensional dynamic gray- scale images of two standard left ventricular short axis views at the levels of mitral annulus and papillary muscle were acquired for the off -line comparative analysis before the operation and 0, 30, 60, 120, 240 and 360 minutes after the operation respectively. Peak systolic circumferential strain(CS), peak systolic radial strain(RS) and left ventricular fraction shortenting(LVFS) of 12 segments at the levels of mitral annulus and papillary muscle were analyzed with QLAB software. After the lab experiment,the fresh hearts of dogs were dyed by TTC.Results ①Compared with the preoperative value , the peak systolic CS and RS of ischemia myocardial regions(anteroseptum,anterior and lateral) in left ventricular short-axis decreased significantly( P ＜0. 05)during 30 to 60 minutes after ligating LAD. Sixty minutes later, the peak systolic CS and RS had a tendency to return to the level before the operation,although the statistical difference was existing. The peak systolic RS and CS also decreased in certain nonischemic regions (inferolateral and inferior). But CS and RS in inferoseptal regions didn't alter significantly. ②Compared with the preoperative value,LVFS in the ischemia regions were significantly decreased( P ＜0.05), while nonischemic regions had no significant difference. ③The results of TTC dyeing showed that the infarcted regions in left ventricular short-axis were anteroseptum, anterior and lateral with blood supplied by LAD, which were consistent with the results of RS and CS. Conclusions RS and CS,as the parameters of myocardial strain may reflect the range and extent of acute myocardial ischemia,and the strain changes of local myocardial segments after the construction of coronary collateral circulatory.
ABSTRACT
Rats were divided into 6 groups fed with 2 levels of zinc (1.41 and 100 ppm) and 3 levels of vitamin A (retinyl acetate 0, 7 and 46 mg/kg). Each group of the rats was tube-fed for 18 days and killed on the 19th day of experiment. Growth rate, zinc and vitamin A levels in serum and tissues, alkaline phosphatase (AKP) activity in serum, total protein and hemoglobin concentrations were measured. Both zinc levels in serum and tissues and AKP activity of the zinc deficient groups were significantly lower than those of the control group. The serum vitamin A values were distinctively depressed in the vitamin A free and vitamin A normal group. The serum vitamin A values in the vitamin A enriched group were not affected by zinc deficient diet and its serum zinc levels was higher than vitamin A free and normal group. The results suggest that zinc deficiency will interfere the release of vitamin A from liver and lead to the decrease of blood vitamin A, which may occurs only when the blood zinc is lower than a certain "critical level" . Different levels of vitamin A have different effect on rats of zinc deficiency, such as vitamin A deficiency will aggravate the zinc deficient symptoms and the increase of vitamin A intake can alleviate zinc deficient harms.