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NKX6-2 encodes a transcription factor involving the genesis and development of oligodendrocytes.Mutations in the NKX6-2 gene are related to a severe variant of hypomyelinating leukodystrophy, namely the NKX6-2-related spastic ataxia type 8 (SPAX8). As of March 24, 2020, there are 36 cases of SPAX8 involving 11 mutations of the NKX6-2 gene, which has not been reported in Chinese population.This article for the first time reported a 31-month-old Chinese boy diagnosed as SPAX8 caused by a novel mutation of the NKX6-2 gene at c. 234dup(p.Leu79Alafs*? ) admitted to the Department of Rehabilitation, Guangdong Women and Children Hospital in October 2019 retrospectively.He presented severe global psychomotor delay, spasticity, nystagmus, hearing impairment and trichiasis, ametropia of both eyes, and retinal degeneration of the right eye, which have not been reported in previous cases.His elder sister presented relevant manifestations, but did not perform the genetic testing.Through this case report and literature review, the genotype and phenotype of SPAX8 were expanded.
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@#Objective To investigate the effect of scalp acupuncture on cerebral blood flow and gross motor function in children with spastic cerebral palsy. Methods From January to November, 2016, 79 children with spastic cerebral palsy were randomly divided into con-ventional group (n=40) and scalp acupuncture group (n=39). Both groups received conventional rehabilitation treatment, and the scalp acu-puncture group was given scalp acupuncture in addition, for five months. The systolic blood flow velocity (Vs), mean flow velocity of cere-bral artery (Vm) and vascular resistance index (RI) of anterior cerebral artery (ACA), middle cerebral artery (MCA) and posterior cerebral artery (PCA) before and after treatment were assessed with color transcranial Doppler ultrasound (TCD). The clinical effect was evaluated with the Gross Motor Function Classification System (GMFCS). Results Five cases dropped out during the follow-up, three cases in the con-ventional group and two cases in the scalp acupuncture group. There was no significant difference in all the indexes between two groups be-fore treatment (P>0.05). After treatment, the Vs and Vm of ACA, MCA and PCA improved (t>2.051, P<0.05), no improvement was found in the RI of ACA, MCA and PCA in the conventional group (t<1.1631, P>0.05), and they decreased in the scalp acupuncture group (t>2.659, P<0.05). After treatment, the Vs and Vm of ACA, MCA and PCA were higher in the scalp acupuncture group than in the conventional group (t>2.098, P<0.05), the RI of ACA was lower in the scalp acupuncture group than in the conventional group (t=2.375, P<0.05), and no signifi-cant difference was found in the RI of MCA and PCA between two groups (t<1.637, P>0.05). The total effective rate was higher in the scalp acupuncture group than in the conventional group (χ2=6.887, P<0.05). Conclusion Scalp acupuncture facilitates to increase the cerebral blood flow, decrease the vascular resistance, and improve gross motor function in children with spastic cerebral palsy.
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Objective To investigate the perception of Mandarin's tones by children with speech development disorders so as to provide a theoretical basis for clinical rehabilitation.Methods Thirty children with speech development disorders (DPDs) aged 4 to 6 were matched with 30 healthy counterparts as a control group.Both groups underwent the tone perception experiment,which included tone identification and discrimination tasks.The speech stimuli were 11 computer-simulated voices expressing a continuum of sounds from Mandarin speech ranging from /bá/ to /bà/.The two groups were compared in their ability to identify and differentiate the tones.Results Both groups showed typicalS-shaped identification curves in a category pattern.The category boundaries of the control group were between stimulus steps 6 and 7,significantly different from those of the experimental group where the boundary fell between stimulus steps 5 and 6.On the distinguishing curve,both groups presented obvious peak values.The stimulus steps of the peaks and the crossing points of the identification curves were consistent.In addition,the average ahsolnte value (b1) of the identification curve and the peaks' degree of steepness (DP) of the DPD group's distinguishing curve were significantly lower than those of the control group.At the same time,the average boundary width (Wcb) was significantly higher than that of the control group.Conclusion Children with speech development disorders perceive Mandarin tones with categories different from those of normal children.They may have difficulty in perceiving tones,which might be an important factor leading to pronunciation errors.
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@#Objective To observe the effect of Rood therapy intervened very early on development of premature infants. Methods 148 hospital-born infants gestated 32 weeks with high risk of brain injury were divided into intervention group (n=74) and control group (n=74).All the cases accepted routine treatment and nursing, and the intervention group accepted Rood therapy in addition. They were followed up to 28th day, assessed with Neonatal Behavioral Neurological Assessment (NBNA). Results The NBNA score was more in the intervention group than in the control group (P<0.05) in all the sub-scores except primitive reflexes. Conclusion Rood therapy is useful to improve the neural development in premature infants in 32 to 36 weeks.
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BACKGROUND: Focal ischemic model made by middle cerebral artery occlusion (MCAO) is much similar to the process of onset in human cere bral infarction, whereas in the process of modeling some problems such as selection of nylon strand with improper diameter and inserted depth would result in modeling failure. OBJECTIVE: To improve MCAO model of focal cerebral infarction. DESIGN: Single-factor design, animal experiment. SETTING: Department of Pediatrics, Affiliated Maternal and Children's Hospital of Guangzhou Medical College. MATERIALS: The experiment was conducted in the Experimental Center of Guangdong Province from January. 2002 to March 2004. A total of 24 healthy Wistar rats were randomly divided into sham-operation group and model group with 10 rats in each group.METHODS: In rats of the model group, the common carotid artery (CCA) and external carotid artery (ECA) were isolated and ligated. A strand was inserted via the incision on CCA near the furcation between CCA and ECA as deep as possible with the depth of (2.0±0.2) mm. The diameter of nylon strand was 0.2 mm, the top of nylon strand was treated by melting paraffin. The interrupted time of blood circulation was 3 hours. Rats in the sham-operation group were treated by slightly drawing back the nylon strand to the CCA immediately after inserting.MAIN OUTCOME MEASURES: ①Neurobehavioral rating: It was conducted at 3 and 12 hours after ischemia with the score ranged 0-4 points.The higher the score was, the severer the neural functional deficit was, 1-3 points signified successful modeling. ②Area of cerebral infarction: Rats wereexecuted at 12 hours after ischemia. Then, brains were quickly removed and stained with tetrazolium chloride (TTC). The percentage of cerebral infarction area was calculated. ③Observation on pathological changes under light microscope.RESULTS: All of 20 rats entered the final analysis.①Eight out of 10 rats in the model group represented contra lateral tumble or draw outward circles, positive Homer's syndrome can be seen in the ligated side (3 points);One rat was disable to completely extend the claws in the contra lateral side of ligation (1 point), one rat had no neural symptoms.②Some pathological changes can be seen in the model group such as swelled cerebral tissues in the ligated side, which were bigger than the contra lateral side and were in pale; The cortex, basal ganglia and thalamus in the ligated side after TTC staining were in pale, whereas the cerebral tissues in the sham-operation group were in red with clear border.③There was no infarct in the sham-operation group, and the percentage of cerebral infarction area in the model group was (22.40±4.52)%, the infarct area of rats in groups were fundamentally same.CONCLUSION: It is necessary to adapt the strand with appropriate diameter, inserted depth and interrupting time for successful modeling.
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@#ObjectiveTo study the effects and mechanisms of hypoxia-ischemia (HI) on long-term learning and memory abilities and astrocytes in hippocampal formation and the efficacy of nimotop in treating hypoxic-ischemic brain damage. MethodsThe rats were subjected to right common carotid artery ligation followed by exposure to 8% oxygen at 37℃ for 2 h and then 13 rat pups received an introperitoneal injection of nimotop per day immediately following cerebral hypoxia-ischemia for 5 days. When the rats were 80-day-old, they were given test of Y-maze to determine their learning and memory abilities, and then their brain tissues were studied by immunohistochemistry for glial fibrillary acidic protein (GFAP) that marked astrocytes. ResultsThe learning and memory abilities of the HI group were lower than those of the normal control and nimotop treated group (P<0.01), nimotop significantly increased Y-maze learning abilities (P<0.05) of rats received HI, but did not affect their memory abilities. The numerical density of GFAP-positive cells in CA1 radiatum stratum of hippocampal formation were markedly higher in the HI group than those in the other two groups (P<0.01), but the others strata showed no difference. ConclusionHypoxic-ischemic brain damage cause rats to disorders of learning and memory that may be correlated with increase astrocyte in hippocampal formation which became easy to be damaged of declining regulation abilities of neurons microenvironment. Nimotop may be effective to counteract hypoxic-ischemic brain damages.
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Objective To study the effects of naked DN A encoding vascular endothelial growth factor 165 (VEGF 165 )on cerebra l infarction in rats. Methods Following establishme nt of a permanent middle cerebral artery occlusion (MACO) model by nylon suture embolization in Wistar rats, the puCCAGGS/hVEGF 165 was directly injected i nto the ischemic tissues through skull hole. Seven days later, the rats were sac rificed. The infarct volume was measured by 2% TTC staining technique, then the expression of VEGF 165 gene and vascular proliferation were measured by use of RT-PCR and immumohistochemistry methods. Results Expression of VEGF 165 mRNA and VEGF protein in the therapy group increas ed. Compared with the control group, the number of vessels of the therapy group was significantly higher (50.76/HPF vs 40.67/HPF)( P