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1.
Article in Chinese | WPRIM | ID: wpr-879533

ABSTRACT

OBJECTIVE@#To explore the genetic basis for three children with Menkes disease.@*METHODS@#The patients were subjected to next-generation sequencing (NGS) to detect potential variants of the ATP7A gene. Suspected variants were verified by Sanger sequencing of their family members and 200 healthy individuals. Multiplex ligation-dependent probe amplification (MLPA) was also carried out to detect potential deletions in their family members and 20 healthy individuals.@*RESULTS@#Variants of the ATP7A gene were detected in all of the three families, including a novel c.1465A>T nonsense variant in family 1, a novel c.3039_3043del frame-shifting variant in family 2, and deletion of exons 3 to 23 in family 3, which was reported previously. Based on the standards and guidelines of American College of Medical Genetics and Genomics, the c.1465A>T and c.3039_3043del variants of ATP7A gene were predicted to be likely pathogenic (PVS1+PM2).@*CONCLUSION@#Variants of the ATP7A gene may underlay the Menkes disease in the three children. Above findings have facilitated clinical diagnosis and enriched the spectrum of genetic variants of Menkes disease.


Subject(s)
Case-Control Studies , Child , Copper-Transporting ATPases/genetics , Exons , Family Health , High-Throughput Nucleotide Sequencing , Humans , Menkes Kinky Hair Syndrome/genetics , Mutation , Pedigree
2.
Article in Chinese | WPRIM | ID: wpr-756119

ABSTRACT

We reported a case of monochorionic monoamniotic twins discordant for anencephaly diagnosed by second-trimester ultrasonography at the First Affiliated Hospital of Fujian Medical University.Ultrasound at seven weeks of gestation showed only one gestational sac with an embryo inside.Another 12 gestational weeks' ultrasound scan performed at another hospital found one gestational sac and one fetus (crown-rump length was 6.11 cm and nuchal translucency was 0.11 cm) in the upper-middle uterine cavity.The ultrasound examination at 22+6 gestational weeks identified one placenta and two fetuses without obvious diaphragm echo in between.Although no structural abnormality was observed in one fetus,frog-like eyes,absence of skull image and brain tissue echo were presented in the other fetus.The patient was transferred to a higher level hospital and was successfully performed radiofrequency ablation for selective reduction at 23+4 weeks of gestation.At 35 weeks,a premature live boy and an anencephalic stillbirth fetus were born vaginally after premature rupture of membranes.The baby boy was healthy at follow-up at four months old.

3.
Article in Chinese | WPRIM | ID: wpr-696529

ABSTRACT

Objective To observe the expression of nucleotide-binding oligomerization domain-like recep-tor protein 3(NLRP3)inflammasome in epilepsy model,and to explore the neuroprotective effect of melatonin. Methods SD rats aged 21-30 d were randomly divided into the control group(48 rats),the epilepsy group(48 rats)and the melatonin group(48 rats),and each group was subdivided into 4 subgroups according to the time points of 24 h,48 h, 72 h,and 7 d,with 12 SD rats in each subgroup. Fluorescence quantitative polymerase chain reaction and immunohisto-chemical technique were used to analyze the expressions of NLRP3,Caspase-1 and interleukin(IL)-1β in hippocam-pus areas of rats at different points of time after seizures were induced,and their behavior changes were observed. Results The number of NLRP3-positive cells in the epileptic group increased,and reached the peak at 72 h. At 24 h,48 h,72 h,7 d,the number of NLRP3-positive cells in the epilepsy group(14. 20 ± 1. 64,23. 60 ± 1. 14,31. 20 ± 1. 30,25. 40 ± 2. 07)was significantly increased compared with those of the melatonin group(10. 60 ± 0. 89,17. 80 ± 1. 48,24. 00 ± 0. 71,20. 20 ± 1. 92)and the control group(2. 60 ± 0. 89,2. 40 ± 1. 14,2. 40 ± 1. 14,2. 40 ± 0. 55),and the differences were significant(F=122. 977,375. 125,962. 743,262. 916,all P<0. 05). The NLRP3 mRNA relative expressions in the epilepsy group (2. 57 ± 0. 12,3. 34 ± 0. 10,4. 84 ± 0. 19,3. 55 ± 0. 13)were significantly increased compared with those of the melatonin group (2. 03 ± 0. 08,2. 71 ± 0. 08,4. 03 ± 0. 14,2. 48 ± 0. 18)and the control group(1. 07 ± 0. 13,1. 08 ± 0. 15,1. 08 ± 0. 23,1. 07 ± 0. 18),and the differences were significant (F =422. 386, 1 154. 957,1 132. 112,512. 149,all P <0. 05);the Caspase -1 mRNA relative expressions in the epilepsy group (2. 47 ± 0. 07,3. 05 ± 0. 15,4. 39 ± 0. 18,3. 14 ± 0. 11)were significantly increased compared with those of melatonin group(1. 85 ± 0. 07,2. 49 ± 0. 08,3. 60 ± 0. 12,2. 15 ± 0. 12)and the control group (0. 98 ± 0. 25,0. 99 ± 0. 15,0. 98 ± 0. 23,0. 99 ± 0. 18),and the differences were significant(F =620. 099,580. 796,1 125. 225,645. 082,all P <0. 05);the IL-1β mRNA relative expressions in epilepsy group (2. 32 ± 0. 15,2. 90 ± 0. 18,4. 18 ± 0. 16,2. 74 ± 0. 07)were significantly increased compared with those of the melatonin group (1. 78 ± 0. 09,2. 35 ± 0. 11,3. 24 ± 0. 13,1. 78 ± 0. 16)and the control group(0. 97 ± 0. 13,0. 99 ± 0. 15,0. 97 ± 0. 23,0. 97 ± 0. 18),and the differences were significant(F=267. 952,398. 767,1 140. 384,438. 962,all P <0. 05). Conclusions The NLRP3 inflamma-somes are activated in rat hippocampus with epilepsy induced by lithium-pilocarpine. NLRP3 inflammasome mediated inflammatory response probably involved in the pathogenesis of epilepsy. The melatonin may play a neuroprotective role by inhibiting expression of NLRP3 inflammasome.

4.
Article in Chinese | WPRIM | ID: wpr-609378

ABSTRACT

Objective To compare the efficacy of adrenocorticotrophic hormone (ACTH) and methylprednisolone on the rat models of infantile spasms (IS).Methods The SD rats on postnatal 10 day (P10) were divided into blank group (n =18),control group (n =18) and model group (n =110) according to the random number table method.The rats of model group were prepared by adopting prenatal stress exposure and N-methyl-D aspartate (NMDA) injection.In the model group,after inducing epileptic seizures,the rats were divided into different groups (18 rats in each group) according to the random number table method as following:model group Ⅰ (subcutaneous injection ofACTH,50 IU/kg,at P10:14:00,21:00;P11,P12:7:00,14:00,21:00;P13:7:00),model group Ⅱ (subcutaneous injection of 9 g/L saline),model group Ⅲ (intraperitoneal injection of methylprednisolone,60 mg/kg,at P11,P12,P13:9:00,once per day),model group Ⅳ (intraperitoneal injection of 9 g/L saline) and model group Ⅴ (positive control group,with no drug or saline injection).Three days later,epilepsy was induced again,and the rats of model group were intraperitoneally injected with NMDA (12 mg/kg) at P13 (10:00).The rats of control group were injected intraperitoneally with same volume of 9 g/L saline,but the rats of blank group were not treated.Behaviors of rats with epilepsy seizures were observed and epilepsy scores were given.The expression of corticotropin-releasing hormone (CRH) in the hypothalamus of each group was detected by using immunohistochemistry and fluorescence quantitative polymerase chain reaction.The learning and memorizing capacity of the rats were measured by Y-maze experiment.Results There was no death in the model group after the onset of seizure.In the model group Ⅰ,13 cases were attacked(72.22%),and 14 cases were attacked in the model group Ⅲ (78.78%).The level of attack was decreased.The buckling state was not observed in model group and Ⅲ,but the latency period of epilepsy was prolonged and the epilepsy scores were significantly decreased.There were no significant differences of onset latency [(2 369.38 ± 628.70) s vs.(1 922.93 ± 462.36) s] and epilepsy score [(2.15 ± 1.14) scores vs.(2.07 ± 0.83) scores] between the 2 groups (all P > 0.005).The rats of model group Ⅱ,Ⅳ,Ⅴ were all attacked completely and presented buckling state.There was no onset or death in blank group and control group.The number of CRH positive cells and CRH mRNA relative expression of each model group were higher than those in the blank group and control group.The number of CRH positive cells and CRH mRNA expression of model group Ⅰ and Ⅲ were lower than those in model group Ⅱ,Ⅳand Ⅴ,and the differences were significant (all P < 0.002 4).There was no significant difference in the number of CRH-positive cells(39.12 ± 5.98 vs.41.48 ± 7.61) and CRH mRNA relative expression (1.92 ± 0.16 vs.2.06 ± 0.39) between model group Ⅰ and Ⅲ (all P > 0.002 4).No significant difference was found between blank group and control group,or among model group Ⅱ,Ⅳ and Ⅴ (all P > 0.002 4).There were no significant differences in the learning capacity among all groups (F =2.196,P > 0.002 4).The correct response rate after 24 hours of the model group was lower than the blank group and control group,and ACTH and methylprednisolone pretreatment did not influence the memorizing capacity (P > 0.002 4).Conclusion The effect of pretreatment of ACTH is similar to that of methylprednisolone in the rat model of IS.

5.
Article in Chinese | WPRIM | ID: wpr-299299

ABSTRACT

<p><b>OBJECTIVE</b>To evaluate the diagnostic efficacy of real?time polymerase chain reaction (q?PCR) for Clostridium difficile infection (CDI) in comparison with routine culture and enzyme?linked fluorescent spectroscopy?based aprroaches.</p><p><b>METHODS</b>Stool samples were collected from suspected CDI cases in General Hospital of Guangzhou Military Command of PLA between May and December in 2016. All the samples were examined with 3 methods, namely enzyme?linked fluorescent spectroscopy for detecting Clostridium difficile toxin A/B (CDAB), detection of glutamate dehydrogenase (GDH), and q?PCR for amplification of Clostridium difficile?specific gene tpi and toxin gene (tcdA/tcdB), with the results of fecal culture as the reference for evaluating the diagnostic efficacy of the 3 methods.</p><p><b>RESULTS</b>Of the total of 70 fecal samples, 13 (18.57%) were found to be positive for Clostridium difficile, including toxin?producing strains in 6 (8.57%) samples. The sensitivity, specificity, positive predictive value, negative predictive value and diagnostic coincidence rate of q?PCR for tpi were 92.31%, 91.23%, 70.59%, 98.11% and 91.43%, respectively, which were significantly higher than those of GDH test (84.62%, 84.21%, 55.00%, 96.00%, and 84.29%, respectively; Χ=24.881, P<0.001). The sensitivity of q?PCR for tcdA/cdB was significantly higher than that of enzyme?linked fluorescent spectroscopy for CDAB in detecting CDI (66.67% vs 33.33%; Χ=35.918, P<0.001).</p><p><b>CONCLUSION</b>Both CDAB detection and q?PCR have a high specificity in detecting CDI, but GDH detection has a good sensitivity, and all these 3 methods have a high negative predictive value. Compared with other detection methods, amplification of tpi and tcdA/tcdB using q?PCR allows more rapid, sensitive and specific detection of CDI.</p>

6.
Article in Chinese | WPRIM | ID: wpr-466751

ABSTRACT

Objective To investigate the protective effect of melatonin and its possible mechanism for repairing in the immature white matter damage due to brain hypoxia-ischemia (HI).Methods Forty-eight three-day SD rats after birth were randomly divided into 3 groups:sham-operated(SHAM) group,HI group and melatonin treatment(MT) group.Periventricular white matter damage (PWMD) to animal models were estabished according to Rice modeling.MT group was treated with melatonin pre-operatively,immediately postoperation,1 hour postoperation and 24 hours postoperation via intraperitoneal injection,and the other groups were injected with the same volume of dissolvent.The rats were executed by decollation after 2 days and 14 days.The histological changes in periventricular white matter were observed by HE staining and immunohistochemistry.Results For the 3 groups,the structure in ope-ration side of the white matter in the peripheral ventricles of the brain 2 days postoperation were significant different (P <0.05).The O4 positive cells decreased one by one/greatest in the SHAM group[(75.548 ± 7.333)/hpf] followed by MT group [(59.971 ± 3.635)/hpf],and HI group [(40.511 ± 2.848)/hpf] (P < 0.05).The expression of Casepase-3 increased in the SHAM group (107.724 ± 10.266),MT group (132.289 ± 8.537),and HI group (202.168 ± 14.367),and the difference was statically significant (P < 0.05).Ventricular index was greater in operation side of the white matter in the peripheral ventricles of the 14-day-brain in the SHAM group(0.928 ±0.063),MT group (1.813 ± 0.110),HI group (2.752 ± 0.201),increasingly,while absorbance value of myelin basic protein decreased one by one in sequence(39.504 ± 1.673,21.729 ± 1.614,11.344 ± 1.118).Conclusions MT plays a role in protecting the periventricular white matter via inhibiting the apoptosis of oligodendrocyte progenitor cell,and thus benefits the PWMD.

7.
Article in Chinese | WPRIM | ID: wpr-389448

ABSTRACT

Objective To study the transfection effects of nuclear factor-KappaB(NF-κB)decoy oligodeoxynucleotides(ODN) to Kupffer cells (KCs) mediated by lipofectamine,and investigate it's suppression effects on KCs activation. Methods Twenty-four Wistar rats were divided into three groups (n=8).(1)Control group,in which the normal KCs were isolated.(2)LPS group,in which 1 ms/L LPs was added to the culture system.(3)NF-κB decoy ODN group,in which KCs were transduced with NF-κB decoy ODN (4μg×105KCs)prior to LPS stimulation.The transfection efficiency Was assayed,and the phagocytosis function,NF-κB(P65) translocation,CD40 mRNA expression of KCs were also detected respectively. Results Kupffer cells were obviously activated after LPS stimulation.the phagocytosis function was reinforced.the activity of NF-κB transloeated from cytoplasm into nucleus was obviosly increaced.The co-stimulatory molecules expression(CD40 mRNA)significantly increased compared with control group(t=4.01,P<0.01).NF-κB decoy oligodeoxynucleotides can efficiently transfected into KCs mediated by lipofectamine,which can obviously suppress KCs activation,and downregulate the expression of downstream gene(compared with LPS group,t=4.89,P<0.01). Condusion NF-κB decoy ODN can efficiently transfect into KCs and inhibit it's activation.

8.
Chinese Journal of Hepatology ; (12): 453-456, 2008.
Article in Chinese | WPRIM | ID: wpr-332206

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the expressions of small heterodimer partner (SHP) and target gene cholesterol-7-hydroxylase (CYP7A1) in livers of rats with intrahepatic cholestasis of pregnancy (ICP), and to study the mechanism of ICP.</p><p><b>METHODS</b>Thirty SD rats (pregnant for 15 days) were equally and randomly divided into two groups: an estradiol benzoate (EB) group and a normal saline (NS) group. Two ml blood was drawn from each rat before and on the 5th day after medicine administration to measure the levels of ALT, AST, ALP, TBA, TBIL, and DBIL. After delivery, the histopathological changes of the mother rat livers were studied. The mRNA and protein expressions of SHP and CYP7A1 in the livers were determined by RT-PCR and Western blot.</p><p><b>RESULTS</b>(1) In the EB group, the serum levels of ALT, AST, ALP, TBA, TBil, and DBil after EB administration increased significantly (P less than 0.01), but there were no significant changes in the NS group (P more than 0.05); (2) Intrahepatic cholestasis appeared in the EB group, but not in the NS group; (3) The mRNA expressions of SHP and CYP7A1 were significantly higher in the EB group than in the NS group [(SHPmRNA: NS 0.365+/-0.0317 vs EB 0.4865+/-0.0237, P less than 0.01), (CYP7A1 mRNA: NS 0.3570+/-0.0175 vs EB 0.4802+/-0.0217, P less than 0.01)]; (4) The protein expressions of SHP and CYP7A1 were also higher in the EB group than that in the NS group [(SHP: NS 0.3762+/-0.0284 vs EB 0.5033+/-0.0274, P less than 0.01), (CYP7A1: NS 0.3570+/-0.0175 vs EB 0.4802+/-0.0217, P less than 0.01)].</p><p><b>CONCLUSION</b>Estrogen induces ICP in rats. The mRNA and protein expressions of SHP and CYP7A1 in livers of the ICP rats were increased, which causes more bile acids to be synthesized. This may be one of the mechanisms of ICP.</p>


Subject(s)
Animals , Cholestasis, Intrahepatic , Metabolism , Cholesterol 7-alpha-Hydroxylase , Metabolism , Estradiol , Pharmacology , Female , Liver , Metabolism , Pregnancy , Pregnancy Complications , Metabolism , Rats , Receptors, Cytoplasmic and Nuclear , Metabolism
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