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The clinical manifestations of subacute combined degeneration of spinal cord (SCD) in children are complex and vary greatly. Due to the fact that some patients with SCD may be complicated with autoimmune diseases, the high early misdiagnosis and missed diagnosis rates are observed. One case of 13-year old female with severe anemia, multiple joint swelling and pain in left limbs and paralysis of bilateral lower limbs with the extremely low level of serum vitamin B12 and poly-glandular involvement as well as a variety of positive auto-antibodies (anti-intrinsic factor antibody, anti-parietal cell antibody, thyroid peroxidase antibody, thyroid globulin antibody and perinuclear anti-neutrophil cytoplasmic antibody) was retrospectively analyzed. The patient was diagnosed as SCD with autoimmune disease (undifferentiated connective tissue disease and autoimmune polyglandular syndrome). The patient′s condition gradually alleviated after high-dose intravenous methylprednisolone, immunoglobulin, naproxen (then changed to hydroxychloroquine 1 month later), vitamin B12 and levothyroxine sodium tablets supplementation, blood transfusion and rehabilitation. SCD with autoimmune diseases is rare in children, and the clinical manifestations vary greatly. Early recognition and early treatment can improve the prognosis of SCD. The clinical data of this child were retrospectively analyzed, so as to improve the understanding of the disease by clinicians.
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The clinical features and gene mutation characteristics of 2 children who suffered from Cornelia de Lange syndrome(CdLs)and were admitted to Affiliated Hospital of Zunyi Medical University in March 2019 were retrospectively analyzed.The 2 cases developed in infancy and presented with intractable epilepsy were accompanied with developmental retardation and special appearance.It was obvious that the 2 children had SMC1A gene mutations on X chromosome.Case 1 was frameshift mutations in the SMC1A gene at c. 2561dupA(p.K854fs), and case 2 was mutations in the SMC1A gene at c. 3441+ 1G>A(exon24)splicing mutation.These were heterozygous de novo mutations, and weren′t detected in their parents, which was not reported in literatures.In this study, 2 cases of CdLs were caused by SMC1A gene mutation, which enriched the human gene mutation database.CdLs should be considered in children with early-onset epilepsy, especially appearance and developmental retardation.Genetic testing is the most important diagnostic method.
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Objective:To investigate clinical features, risk factors and prognostic effects of paradoxical response(PR)in children with tuberculous meningitis(TBM)during anti-tuberculosis treatment.Methods:The clinical and follow-up data of TBM children admitted to the Department of Pediatrics, the Affiliated Hospital of Zunyi Medical University between January 2013 and December 2018 were retrospectively analyzed.The children were divided into the PR group and the non-PR group.Influencing factors of PR were selected by the univariate analysis, and independent risk factors were screened from these influencing factors by using the multivariate Logistic regression model.The effect of PR on long-term prognosis (≥9 months) of TBM was evaluated. Results:There were 31 cases(35.6%)with PR among the 87 TBM children enrolled, including 16 boys and 15 girls, with median age of 92(8-168)months.The median time for PR occurrence during the anti-tuberculosis treatment was 33(15-180)days.PR could present dete-rioration or recurrence of original symptoms, cerebrospinal fluid(CSF)deterioration and neuroimaging deterioration, accounting for 71.0%(22/31 cases), 80.6%(25/31 cases)and 51.6%(16/31 cases), respectively.Univariate analysis showed that stage Ⅱ, limb paralysis, cranial nerve palsy, positive tests of tuberculosis infection(T-SPOT), an increased lactate dehydrogenase(LDH)level in CSF, basilar meningeal enhancement, and tuberculosis infection outside the central nervous system were the influencing factors of the PR(all P<0.05). Multivariate analysis showed that limb paralysis, cranial nerve palsy, an increased CSF-LDH level, and positive T-SPOT were independent risk factors of PR(all P<0.05). PR was not associated with prognosis( P=0.165). Conclusions:PR occurs in 35.6% of children with TBM.Limb paralysis, cranial nerve palsy, an increased CSF-LDH level and positive T-SPOT are independent risk factors of PR.PR does not adversely affect the outcome.Identifying PR is extremely important for the prevention of some clinical misunderstandings.
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The clinical characteristics, diagnosis and treatment, and the gene mutation of 2 different phenotypes patients developed with tyrosine hydroxylase deficiency (THD) were retrospectively analyzed.Case 1 was a severe infantile parkinsonism accompanied with motor retardation, which started with psychomotor retardation without dystonia in infantile period.Clinical symptoms were fluctuating.Case 2 was a mild dopa-responsive dystonia, which started with progressive lower extremity dystonia in school age.The genetic study revealed that both patients had heterozygous mutations in tyrosine hydroxylase ( TH) gene.Case 1 was compound heterozygous mutations in the TH gene at c. 457C>T(paternal) and c. 698G>A (maternal). Case 2 was compound heterozygous mutations in the TH gene at c. 457C>T(paternal) and c. 1481C>T (maternal). Both patients dramatically improved after the treatment with Levodopa.THD should be considered in any children with or without mental retardation presenting with fluctuations symptoms or fluc-tuations dyskinesia.Genetic testing is the most important diagnostic method.
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Seizure is the most common clinical manifestation in newborns.Due to the characteristics of neonatal brain development, its manifestation, etiology and response to drug therapy are different.Inborn errors of metabolism disorder occur early and often manifest seizures.some disorders have a good prognosis after treatment.This article reviews inherited metabolic etiology and prognosis of neonatal seizures in order to improve the clinicians′ understanding of genetic metabolic etiology and prognosis of neonatal seizures.
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Seizure is the most common clinical manifestation in newborns. Due to the characteristics of neonatal brain development,its manifestation,etiology and response to drug therapy are different. Inborn errors of metabolism disorder occur early and often manifest seizures. some disorders have a good prognosis after treatment. This article reviews inherited metabolic etiology and prognosis of neonatal seizures in order to improve the clinicians′understanding of genetic metabolic etiology and prognosis of neonatal seizures.
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Objective To explore the clinical characteristics and the cause of misdiagnosis of child suffering from cerebral parago-nimiasis with intracranial hemorrhage as initial symptom,and to improve the diagnosis and treatment level of cerebral paragonimiasis.Methods The clinical data of the children who suffered from cerebral paragonimiasis with intracranial hemorrhage as initial symptom were collected from January 2011 to December 2015 in Affiliated Hospital of Zunyi Medical College.The clinical manifestation,imageology and laboratory tests,outcome of therapy were analyzed and then the effect of treatment and the prognosis were followed up.Results There were 7 patients meeting the inclusion criteria for cerebral paragonimiasis,including 4 male and 3 female.They were from 6 to 13 years old with the average age of 9.3 years old.All patients presented with headache and vomiting,and showed intracranial hemorrhage through CT or MRI of brain.All of the 7 patients were misdiagnosed as cerebrovascular malformation by the neurosurgeons.Three of them showed typical imaging pattern including tunnel sign and the ring-like shape of cerebral paragonimiasis.Five of these cases were attacked by pulmonary distomiasis at the same time.Six of them had an increasing eosinophil,and the paragonimus antibody was positive.They were treated with Praziquantel.Six patients recovered completely,and 1 patient had the dysfunction of left extremities.Conclusions The childhood cerebral paragonimiasis has strong clinical heterogeneity and diversity in manifestation.Intracranial hemorrhage may be the initial symptom,which should be paid more attention to.Cerebral paragonimiasis can be diagnosed and treated early according to the clinical characteristics,the increase of eosinophil,the typical changes in imageology and the specific antibody test.
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Convulsive status epilepticus (CSE) is an acute,life-threatening and neurologic emergency in children.The prognosis and the incidence of recurrent CSE depend upon the underlying etiology.It is very important to find related etiology and seek solution.The underlying etiology,classification and the diagnostic evaluation of the children with CSE will be outlined in this article.
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Anti-N-methyl-D-aspartate receptor (NMDAR) antibody encephalitis is an autoimmune encephalitis manifesting subacutely with prominent aberrant movements and psychiatric symptoms,which associated with antibodies against NR1 or NR2 subunits of the NMDAR.The disease is not rare,early diagnosis and immune treatment can improve prognosis and reduce the recurrence.The epidemiology,mechanisms,clinical presentation,treatment and prognosis of the disease were reviewed in order to enhance the cognition of anti-NMDAR encephalitis.
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Central nervous system demyelination in children include acute disseminated encephalomyelitis (ADEM),multiple sclerosis (MS),optic neuritis(ON),transverse myelitis(TM),neuromyelitis optica(NMO).Most of these conditions are thought to be caused by immune -mediated demyelination triggered by an infectious agent in a ge-netically susceptible host.There are certain differences,including clinical features and imaging features,for these condi-tions.With the possible exception of the NMO -IgG autoantibody found in NMO,there are no disease -specific biomar-kers for these conditions,making it difficult to distinguish among them at the time of the initial presentation.However, certain clinical features,laboratory results,and imaging findings can usually lead to the correct diagnosis.MS is to a large extent still a diagnosis of exclusion,and therefore requires intense investigation for other conditions that might present in a similar manner.
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Nonconvulsive status epilepticus (NCSE)is a peculiar kind of status epilepticus,which is not un-common in children,but it always be misdiagnosed due to its unnoticeable clinical signs.So far,there is no international unifying diagnose standard of NCSE.Therefore,electroencephalography(EEG)monitoring is recommended.Now,the progress in this field of clinical manifestation and EEG features of NCSE was reviewed.
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Objective To investigate the effect of cardiotrophin-1 (CT-1) mediated by recombinant adenovirus (Adv) on the neural differentiation of bone marrow mesenchymal stem cells (rBMSCs) of rats.Methods The rBMSCs were isolated and cultured by attachment method.The surface marker protein was identified by flow cytometry.The rBMSCs were divided into 4 groups:control group,AdV enhanced green fluorescence protein (Adv-EGFP) + induction group(empty virus group),CT-1 group and induction group.The cells were transfected by Adv in the corresponding multiplicity of infections.Each group was induced by neural induction medium except for control group.The cells morphological changes were observed by microscope and the expressions of Nestin,neuronal nuclei (NeuN) and glial fibrillary acidic protein(GFAP) were detected respectively by cellular immunofluorescence at 5 h,3 d and 7 d after induction.Results After induction treatment,neuron-like cells morphological changes were observed in all the groups except for control group,among which the most obvious change was found in CT-1 group.The positive rate of Nestin was the highest at 5 h after induction.Positive rate of CT-1 group[(86.31 ± 4.27)％] was higher than any other groups,the differences were statistically significant (all P ＜ 0.001);after which its positive rate gradually declined,the positive rate of CT-1 group changed more obviously than other groups,and the differences were statistically significant (all P ＜ 0.001).The difference in Nestin positive rate between the empty virus group and induction group was not statistically significant (all P ＞ 0.05) at various time points.The NeuN and GFAP could be observed in CT-1 group at 5 h after induction.Then the positive rate of NeuN and GFAP increased gradually,and climbed to the highest point [(64.41 ± 3.65)％,(47.14 ± 4.29)％] on 7 d after induction.Positive rate of NeuN and GFAP in CT-1 group at various time points were higher than that of other groups,and the differences were statistically significant (all P ＜0.001).The difference of NeuN and GFAP positive rate between the empty virus group and induction group was not statistically significant (all P ＞ 0.05).Conclusion CT-1 could promote the neural differentiation of rBMSCs.
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Objective To observe the survival,migration and differentiation of grafted neural stem cells(NSCs)transfected with cardiotrophin-1(CT1)in hippocampus in status epilepticus(SE)rats,and investigate its effect on neuron loss and mossy fiber sprouting(MFS)in hippocampus of SE rats.Methods (1)Lithium-pilocarpine induced SE model rats were divided into 3 groups randomly:CT1-NSCs transplantation group(n=18);NScs transplantation group(n=18)and SE model group(n=18).Another 18 rats served as normal control group.Each group was further divided into 3 time points testing groups(n=6 at each point)corresponding to 1,4 and 8 weeks after transplantation respectively.(2)Under the confocal microscopy,the survival,migration and differentiation of the grafted cells were observed by immunofluorescenee.(3)Morphological changes and neuron loss in the hippocampal CA1 region were examined by Nissl staining.(4)MFS in hippocampal dentate gyrus in rats was obserred by Timm histochemistry.Results(1)At 4 and 8 weeks post-tmusplantation,the numbers of double-labeled NF-200 and EGFP pesitive cells in the CT1-NSCs group were significantly hisher than those in NSCs group.In the former group most of the grafted NSCs migrated away from the needle tract,but in the latter group,grafted ceHs remained at the transplantation site.(2)The numbers of neuron in the hippocampal CA1 region reduced gradually after SE.The numbers of neuron in the CA1 region in CT1-NSCs transplantation rats (68.85±11.49,60.89±12.17 and 51.51±13.34 in 1,4,8 weeks after transplantation respectivelv)were greater than that in NSCs transplantation rats(67.92±10.78,42.56±11.47 and 30.49±10.12).tvalue were 4.650 and 5.334 in 4 and 8 weeks after transplantation(P<0.05).(3)Aberrant MFS in the inner molecular layer of dentate gyrus was observed,and the scores of MFS gradually increased with timelapse.The scores of MFS in CT1-NSCs transplantation rats(0.77±0.04,2.48±0.89 and 2.39±0.82 in 1,4,8 weeks after transplantation respectively)were significant lower than that in NSCs transplantation rats (1.12±0.62,3.17±0.64 and 3.88±0.51,t=6.059,9.511 and 9.728,P<0.05).Conclusions CT1 could promote the survival,migration and differentiation of engrafted NSCs in hippocampud in SE rats.Engrafted NSCs transfected with CT1 have effect on repair of the injured hippocampus,and could inhibit hippocampus MFS in SE rats.
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AIM:To set up a glutamate-induced cell damage model in cultured hippocampal neurons, and to determine whether glutamate-induced neuronal apoptosis changes and whether this process is mediated by mitochondrial signal transduction pathways involving the release of cytochrome C. METHODS: Hippocampal neurons, isolated and cultured from new born Wistar rats, were exposed to various concentrations of glutamate. Extent of cell death was assessed by measuring the release of lactate dehydrogenase (LDH) in the culture media. Based on these data, an appropriate concentration of glutamate was selected, and all subsequent experiments were carried out under the concentration. Kinetics of glutamate-induced both apoptotic and necrotic cell death after exposure to glutamate for various times(3-24 h) were determined by flow cytometry and LDH release. The caspase-3 protein levels and cytochrome C release from mitochondria into cytosol in hippocampal neurons were determined by Western blotting. RESULTS: Glutamate treatment induced hippocampal neurons death in dose-dependent and time-dependent manners. A significant increase in LDH release (18.4%) was induced in the cells treated with 50 ?mol/L glutamate, compared to control untreated cells(P
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Objective:To explore the change in virulence of Campylobacter jejuni (CJ) mutant after galE gene knock-out.Methods: Using Hep-2 cells, adherence and invasion assays were performed in the galE mutant and the parent strain, meanwhile, serum sensitivity assay and motility test were made in them. Results:The galE mutant showed a reduction in its ability to adhere to and invade Hep-2 cells. The ability of the galE mutant and parent strain to adhere to Hep-2 cells were 1.2 % and 8.3% respectively, and adherence ability of the former only was 14.5% of that of the latter. The difference was significant ( P
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Objective:To explore if galE knock-out mutant of Campylobacter jejuni(CJ) have a changed lipooligosaccharide(LOS) structure.Methods:Lipooligosaccharide from parental strains(CJ HB9313) and mutant strains were isolated and purified.The purified LOS preparations from parental and mutant strains were resolved by Tricine SDS polyacrylamide gel electrophoresis(PAGE),analyzed by silver staining and Western blot,tested for reaction with the ganglioside-binding ligands of cholera toxin(CT).Results:Silver staining showed that the parent strain expressed a LOS molecule of around 5 5 kD,whereas the galE mutant strain expressed a molecule of 4.5 kD.The Western blot showed that the LOS,expressed by galE mutant strain,no longer reacted with antiserum raised against CJ HB9313.Compared with parent strain,the mutant lost reactivity with CT.Conclusion:These results indicate that LOS molecule of galE mutants is truncated and removes epitopes that react with antiserum and ganglioside-like structures.The absence of these structures in the galE mutants may enable the development of a safe,live-vaccine without the possibility of inducing an immune response to host gangliosides.
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0.05).The sera from animals immunized with parental strains had significant higher titer of IgG antibodies against GM1,GD1a and GT1b,at 14 and 28 day than before immunization(P