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Apparent mineralocorticoid excess (AME) is an autosomal recessive inheritance caused by 11β－hydroxysteroid dehydrogenase 2 gene mutation.It may occur in newborn and adult.AME was first reported in 1977 by Werder et al.Its clinical features include hyporenin type hypertension , hypoaldosteronemia, metabolic alkalosis, hypernatremia and hypokalemia.In recent years,with the improvement of clinical diagnosis ,especially gene detection , AME has been reported one after another.In this paper,the pathogenesis,clinical manifestation ,diagnosis and therapy of AME were reviewed in order to improve the understanding of this disease and provide reference for its clinical diagnosis and treatment.
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3-hydroxy-3-methylglutaric aciduria is a rare organic aciduria inherited by autosomal recessive trait.It is caused by the mutations in 3-hydroxy-3-methylglutaryl-CoA lyase gene.The clinical onset usually occurs in the neonatal and infant period.In recent years,with the development of technology for screening inherited metabolic diseases,the number of children with 3-hydroxy-3-methylglutaric aciduria are increasing.The incidence of this disease is about 1 ∶ 100 000 in reports of Europe and the United States.The incidence in China is unknown.In this paper,the advances on pathogenesis,clinical manifestations,diagnosis and treatment of 3-hydroxy-3-methylglutaric aciduria will be reviewed so as to improve the understanding of this disease and provide reference for its clinical diagnosis and treatment.
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Objective To investigate the dose,efficacy and safety of pantoprazole in the prevention of duodenal ulcer.Methods The patients from October 2014 to October 2016,105 cases of neurosurgery,thoracic surgery,neurosurgery and orthopedic surgery were divided into group A,group B and group C according to random number table method,35 cases in each group.The three groups were treated with intravenous pantoprazole,the dosage of group A was 40mg,1 time/d;the dosage of group B was 80mg,1 time/d;the dosage of group C was 40mg,1 time/12h,treatment cycle was 1 week.Before and after treatment,the gastric pH change and onset time,the incidence of adverse reactions were compared among the three groups.Results After treatment for 24h,the gastric pH of group B was (5.15 ± 0.87),which was significantly higher than (2.35 ± 0.45) in group A and (3.59 ± 0.65) in group C,which in group C was significantly higher than that in group A(t =10.809,24.407,13.598,all P ＜ 0.05).The onset time of group B [(48.6 ± 12.2)] was significantly shorter than (88.7 ± 23.4) of group A and (85.4 ± 26.5) of group C (t =10.987,10.083,all P ＜ 0.05).In group B,the time of gastric pH ＞ 3 [(954.5 ± 156.4) rin],pH ＞ 4 time [(865.4 ±135.2)rin]and pH ＞5 time[(714.2 ± 115.4)min]were significantly longer than those in group A and group C,which in group C were significantly longer than that in group A,the differences were statistically significant (t =8.852,30.177,21,325,3.864,40.879,44.713,all P ＜ 0.05).The incidence rates of adverse reactions in group A,group B and group C were 5.71％,14.3％ and 8.6％,respectively,there was no statistically significant difference (t =4.175,45.149,43.974,all P ＜ O.05).Conclusion 80mg qd pantoprazole can significantly improve gastric pH,effectively prevent and treat duodenal ulcer,with high safety.
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A growing body of evidence has indicated the important role of autophagy receptors in directing ubiquitinated or non-ubiquitinated cargos towards autophagy. Autophagy receptors bind to LC3 (microtubule-associated protein 1 light chain 3) on phagophore and autophagosome membranes, and recognize signals on cargoes in the delivery system of autophagy. However, the diverse domains in the receptor structures determine that their roles would never be limited to autophagy. Up to date, increasing numbers of the receptor proteins have been demonstrated to serve as a molecular link or switch participating in autophagic degradation, apoptosis or cell survival signals. Here, we highlight the non-autophagic roles of these receptor proteins to draw attention to this growing research topic.
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Objective To investigate the effect of triptolide (TP) on proliferation and apoptosis of cyst-lining epithelial cells with autosomal dominant polycystic kidney disease ( ADPKD). Methods Primary cultured cyst-lining epithelial cells were treated with TP at different concentrations for 12 h,24 h,48 h and 72 h, respectively.The proliferation activity of the cells was evaluated by Brdu assay. The cell cycle distribution was determined by flow cytometry. The apoptotic and apoptotic ratio were determined by FITC-AnnexinV binding/ PI. The morphological changes of cyst-lining epithelial cells were observed under transmission electron microscope. Results TP significantly inhibited the proliferation of cyst-lining epithelial cells and induced apoptosis in a dose- (10-40 ng?mL-1 )and time-dependent(12-48 h) manner. Typical ultrastructural changes of apoptotic cells were observed under electron microscope. Conclusion TP significantly inhibited the proliferation of cyst-lining epithelial cells and induced the apoptosis of cyst-lining epithelial cells, thus inhibited cyst forming and delayed cyst developing. The mechanism may involve several targets and pathways.
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Biotinidase deficiency is an autosomal recessive genetic disease with the decrease of biotinidase activity,which is caused by mutations of biotinidase gene.In recent years,with the development of genetic metabolic disease screening,biotinidase deficiency has been diagnosed constantly.Its incidence is about 1 ∶ 60 000 persons overseas and its clinical manifestations are complicated with high mortality and morbidity.In this paper,advances on pathogenesis,clinical manifestations,diagnosis and treatment of biotinidase deficiency will be reviewed.
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In the development of radio frequency (RF) coils for better quality of the mini-type permanent magnetic resonance imager for using in the small animal imaging, the solenoid RF coil has a special advantage for permanent magnetic system based on analyses of various types.of RF coils. However, it is not satisfied for imaging if the RF coils are directly used. By theoretical analyses of the magnetic field properties produced from the solenoid coil, the research direction was determined by careful studies to raise further the uniformity of the magnetic field coil, receiving coil sensitivity for signals and signal-to-noise ratio (SNR). The method had certain advantages and avoided some shortcomings of the other different coil types, such as, birdcage coil, saddle shaped coil and phased array coil by using the alloy materials (from our own patent). The RF coils were designed, developed and made for keeled applicable to permanent magnet-type magnetic resonance imager, multi-coil combination-type, single-channel overall RF receiving coil, and applied for a patent. Mounted on three instruments (25 mm aperture, with main magnetic field strength of 0.5 T or 1.5 T, and 50 mm aperture, with main magnetic field strength of 0.48 T), we performed experiments with mice, rats, and nude mice bearing tumors. The experimental results indicated that the RF receiving coil was fully applicable to the permanent magnet-type imaging system.
Subject(s)
Animals , Mice , Rats , Magnetic Fields , Magnetic Resonance Imaging , Magnets , Mice, Nude , Phantoms, Imaging , Radio WavesABSTRACT
We developed a three-dimensional mini-type permanent magnetic resonance imaging (MRI) device in our lab. The purposes of this study were (1) for further development of MRI technologies, (2) for support of broadening practices of animal test modeling in medical research, and (3) for training more specialists from colleges or universities in the field of MRI. This paper describes the research and development at our lab(s), especially stressing on the design of the main magnet, the gradient coil and the radio frequency coil. In addition, the specific methodologies used in our lab(s) and the related data are emphasized. The 3D MRI technologies have met the needs of using small animals, super thin sections of live animal body and high imaging resolutions. MRI images of mice head and abdominal have been obtained successfully by using the imager that we developed. The imaging results and analyses have also been discussed.
Subject(s)
Animals , Mice , Equipment Design , Imaging, Three-Dimensional , Magnetic Resonance Imaging , MethodsABSTRACT
Aim To explore the relationship of the single nucleotide polymorphisms of multidrug resistance gene 1 and brain derived neurotrophic factor(BDNF) gene to childhood drug resistance epilepsy.Methods Two single nucleotide polymorphisms,T-129C polymorphism in multidrug resistance gene 1 and C270T polymorphism in BDNF gene,were conducted with PCR-restriction fragment length polymorphism analysis.The distribution of genotypes and allele frequencies of two single nucleotide polymorphisms in childhood drug resistance epilepsy were compared to those in drug respond epilepsy and controls.Results The distribution of TT genotype and T allele frequencies of multidrug resistance gene 1 in drug resistance epilepsy differed significantly from those in drug respond epilepsy and controls(P0.05).Conclusions The findings suggested that the T-129C polymorphism of multidrug resistance gene 1 maybe associated with childhood drug resistance epilepsy and played some role in the etiology of drug resistance epilepsy,but C270T polymorphism of BDNF gene was not confirmed to relate to childhood drug resistance epilepsy.