ABSTRACT
Clinical phenotype and gene characteristics of a patient diagnosed with Imerslund-Gr?sbeck syndrome (IGS) in Department of Neurology, Children′s Hospital of Soochow University in December 2018 were analyzed retrospectively, and literature review was conducted.The 16 years and 5 months old boy was admitted to the hospital with symptoms of weakness of lower limbs for 2 weeks.He had a history of megaloblastic anemia and isolated proteinuria.Genetic metabolism of hematuria showed methylmalonic academia.Genetic analysis revealed a compound heterozygous AMN gene mutation[c.742C>T(p.Q248 *) and c. 761G>A(p.G254E)]. These two mutations were derived from his parents respectively, which had been reported before.Symptoms of the patient improved after intramuscular administration of hydroxycobalamin and oral betaine.Review of the literature indicated that the clinical manifestations of AMN gene-related IGS were mostly megaloblastic anemia and isolated proteinuria, and the older children might suffer from neurological symptoms such as movement disorders, dementia, delirium or psychosis.The clinical phenotype of this disease was variable, which might easily lead to misdiagnosis.The patient presented with a special phenotype of mild reversible peripheral neuropathy, which expanded the clinical phenotype of pathogenic genes of AMN gene.In addition, peripheral neuropathy caused by vitamin B 12 metabolic disorders is reversible, and it is suggested to measure vitamin B 12, test related genes and treatment with vitamin B 12 in peripheral neuropathy of unknown etiology.
ABSTRACT
OBJECTIVE@#To investigate the effects of on the acoustic characteristics of tumor tissue and how such acoustic changes affect the efficacy of high-intensity focused ultrasound (HIFU) ablation in nude mice.@*METHODS@#Forty mice bearing human breast cancer cell (MDA-MB-231) xenograft were randomized into experimental group (=20) and control group (=20) for intravenous injection of suspension (200 μL, 4 × 10 cfu/mL) and PBS (200 μL) for 3 consecutive days, respectively. Before and at 3 and 7 days after the first injection, shear wave elastography was used to evaluate the hardness of the tumor tissue. On day 7 after the first injection, 10 mice from each group were sacrificed and the sound velocity and sound attenuation of the tumor tissues were measured. The changes in the collagen fibers in the tumors were evaluated using Masson staining, and neovascularization in the tumor was assessed with immunohistochemistry for platelet endothelial cell adhesion molecule-1 (PECAM-1/CD31). The remaining 10 tumor-bearing mice in each group were subjected to HIFU ablation, and the ablation efficiency was evaluated by assessing the changes in irradiation gray values, coagulative necrosis volume, energy efficiency factor (EEF) and irradiation area and by pathological examination with HE staining.@*RESULTS@#In the experimental group, the collagen fibers in the tumor tissues were strong and densely aligned, and the tumors contained fewer new blood vessels showing strip-or spot-like morphologies. In the control group, the collagen fibers in the tumors were thin and loosely arranged, and the tumors showed abundant elongated or round new blood vessels. colonized in the tumor 7 days after the injection, and the tumor hardness was significantly greater in the experimental group than in the control group (=0.01); the acoustic velocity (=0.001) and the acoustic attenuation (=0.000) of the tumor tissues were also greater in the experimental group. HIFU irradiation resulted in significantly greater changes in the gray scale of tumor (=0.0006) and larger coagulative necrosis volume (=0.0045) in the experimental group than in the control group, and the EEF was significantly smaller in the experimental group (=0.0134).@*CONCLUSIONS@# can cause changes in collagen fiber content, acoustic velocity and attenuation in the tumor tissue and reduce the EEF of HIFU irradiation, thereby improving the efficacy of HIFU irradiation.
Subject(s)
Animals , Humans , Mice , Acoustics , Bifidobacterium , Virulence , Breast Neoplasms , Pathology , Collagen , Elasticity Imaging Techniques , High-Intensity Focused Ultrasound Ablation , Mice, Nude , Neoplasm Transplantation , Random AllocationABSTRACT
Objective To evaluate the clinical efficacy and safety of different courses of topical tacrolimus 0.1％ ointment in facial corticosteroid-dependent dermatitis and to observe the rebound in patients after treatment with these regimens.Methods A total of 104 patients with facial corticosteroid-dependent dermatitis were randomly divided into 3 groups to be treated with topical tacrolimus 0.1％ ointment twice daily for 4,8 and 16 weeks respectively.The patients were followed up every 2 weeks within the early 4 weeks of treatment and every 4 weeks thereafter.The rebound phenomena was observed in patients on week 4 after the withdrawal of tacrolimus.Results Finally,90 patients completed this trial,including 32 patients in the 4-week group,29 patients in the 8-week group and 29 patients in the 16-week group.No significant differences were observed between the 4-,8- and 16-week groups in the total reponse rate (75.00％,82.76％,86.21％,respectively,x2 =1.35,P ＞ 0.05).The rebound rate in the 16-week group significantly differed from that in the 4- and 8-week group (20.69％ vs.46.88％ and 41.38％,both P＜ 0.05),while no statistical difference was noted between the 4- and 8-week groups.Local burning and itching were reported in 31.73％ of these patients,and all of these irritant reactions occurred within the first week of treatment.Conclusions Topical tacrolimus 0.1％ ointment is safe and effective for the treatment of facial corticosteroid-dependent dermatitis.The total response rate does not increase with the extended treatment course,and 4 weeks of treatment is enough for the marked and stable improvement of facial corticosteroid-dependent dermatitis,but the rebound rate is likely to be reduced by extended treatment course.
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Recent studies have indicated that miRNA is an important element that regulates gene expression at the post transcriptional level. MiRNAs play important roles in development and progression of chronic disorders of many organs. This. review summarizes the recent researches on the association of miRNA with chronic liver diseases.