X-linked neurological dysplasia caused by a new mutation of the PAK3 gene in a newborn / 中华实用儿科临床杂志

The clinical features, examination findings and genetic testing results of a newborn with neurobehavioral developmental abnormality caused by the PAK3 gene mutation in the Department of Neonatology, Anhui Provincial Children′s Hospital were retrospectively analyzed in November 11, 2021.The male 9-day-old newborn presented with the difficult-to-wean for 9 days after birth.The child had repeated startle reflexes, decreased muscle tension in the extremities, and partial primitive reflexes.Amplitude-integrated electroencephalogram (aEEG) showed the lower and upper boundary voltage of 10 μV and 40 μV, respectively.Obvious mature sleep-wake cycles were not found, and 2 electric seizures were recorded.The aEEG suggested the moderate-to-severe abnormal aEEG.Magnetic resonance imaging showed that the corpus callosum was slightly thinner.The family-centered diagnostic exosome sequencing showed a missense mutation of the PAK3 gene[c.1327 (exon18) G>A, p.G443R], which has not been previously reported at home and abroad.This case enriched the clinical phenotype of the PAK3 gene mutation and suggested the potential value of whole genome sequencing in clinical diagnosis and genetic guidance.

Comprehensive rehabilitation is superior to surgical intervention for many patients with recurrent lumbar disc herniation / 中华物理医学与康复杂志

Objective To compare the effectiveness of comprehensive rehabilitation therapy with that of surgical intervention for patients with recurrent lumbar disc herniation (LDH).Methods A total of 124 LDH patients were recruited antd randomly divided into an experimental group and a control group,each of 62.The experimental group was given comprehensive rehabilitation consisting of medicine,physical therapy,and spinal stabilization exercises,while the control group received lumbar spine surgery.The patients' back and leg pain scores and their Oswestry Disability Index (ODI) scores were compared at admission and discharge,as well as 3 and 12 months after discharge.Anxiety and depression were also assessed at admission and 3 months after discharge.Results At discharge and 3 and 12 months later the average back and leg pain scores and ODI ratings were significantly lower than that at admisshin for both groups.There were no significant inter-group differences.In terms of anxiety and depression,however,these had decreased signifieantly in both groups,but the experimental group's average rating was significantly better at diseharge.Conclusions Comprehensive rehabilitation is superior to surgical intervention in relieving the depression of patients with recurrent LDH.Comprehensive rehabilitation should be considered as the first ehoiee for patients with rccurrent LDH,and only supplemented by surgical intervention if it is not effective.

The effects of rolipram on neurofunction and the ultrastructure of the spinal cord after spinal cord contusion / 中华物理医学与康复杂志

Objective To investigate the effects of rolipram on neurofunction and the ultrastructure of the spinal cord in rats with spinal cord contusion.Methods Thirty adult,female Sprague-Dawley (SD) rats received spinal cord contusion at the T10 level.They were then randomited into an experimental group and a control group immediately after the operation.Rats in the experimental group received subcutaneous injections of 0.25mg/kg of rolipram twice daily for two weeks.Control rats received the same dosage of 0.9％ sodium chloride solution on the same schedule.The rats'functional recovery was evaluated using the open-field locomotion rating scale of Basso,Beattie and Bresnahan (BBB score),once a week within the 1st month after spinal cord injury (SCI),and once every two weeks subsequently.The morphology of the spinal cord tissue around the lesion site was observed under the light microscope with HE staining at the 8th week postoperation,and the ultrastructure of the spinal cord was observed under the transmission electron microscope at the 2nd,4th and 8th week postoperation.Results At the 2nd and 3rd week after SCI the experimental group exhibited significandy greater improvement in average BBB scores than the control group.However,the average BBB scores in the experimental and control groups were not significantly different at 8 weeks after SCI.Under the light microscope,cavities were observed in the posterior dorsal column near the SCI in both the experimental and control groups.However thick,condensed glial scars in the injured area were observed only in the control group.The density of glial cells decreased more in the experimental group than in the control group.Transmission electron microscopy revealed that,compared with the control group,inflammatory edema was attenuated and fewer axons were damaged at the 2nd week postoperation in the experimental group.That group also showed less axon degeneration as well as more angiogenesis at the 4th and 8th week.Conclusion Rolipram can reduce secondary neuron degeneration,inhibit gliosis and the formation of glial scars,and promote angiogenesis.

Effects of treadmill training on noradrenaline fibers and the recovery of hindlimb motor function in rats after spinal cord contusion / 中华物理医学与康复杂志

Objective To observe the effects of treadmill training on hindlimb motor recovery and noradrenaline (NA) fibers in rats with spinal cord contusion.MethodsSpinal cord contusions at the T10 level were induced in 3-month old female SD rats by dropping a 10 g rod from a height of 25 mm.The injured rats were then randomly divided into a control group and a treadmill training group ( n =15 in each group).Treadmill training began 1 week post-injury.No treatment was administered to the control group rats.Hindlimb motor function was evaluated weekly from the 1 st to the 9th week post-injury using Basso Beattie Bresnahan (BBB) scores and average combined scores (ACOs).The expression of dopamine beta hydroxylase (DBH) in the spinal cord caudal to the injured area was detected by immunohistochemical staining.ResultsThe treadmill training group exhibited significantly greater improvement in BBB scores from the 3rd week to the 7th week and in ACOs from the 2nd to the 9th week post-injury compared with the control group.The number of DBH positive fibers in the injured spinal cords and the number of DBH positive neurons in the injured frontal horns were also significantly higher in the training group.ConclusionsTreadmill training can promote the recovery of hindlimb motor function in rats after spinal cord contusion,perhaps by increasing the number of DBH positive fibers and DBH positive neurons.

Inflammation Response Related Gene Expression Profile after Injury of Rubrospinal Tract / 中国康复理论与实践

@#ObjectiveTo investigate the characteristic changes of expression of the genes related to inflammation response after injury of rubrospinal tract（RST）. Methods18 Sprague Dawley（SD）female rats were randomly divided into 2 groups: RST injury group (n=9) and Sham group (n=9). RST injury models were established, and the rats were killed 24 hours after injury. 5 mm length spinal cord was harvested from the epicenter and total RNA was extracted. Affymetrics Gene Chips for rats, representing 28000 genes, were used for mRNA expression profiling.Results153 transcripts were observed to differ (2.0 fold; 136 up-regulated and 17 down-regulated) after injury of RST, compared with sham group. Most of genes related to inflammation response were up-regulated (except Scn9α). 8 genes related to Toll-like receptor signaling pathway were also up-regulated.ConclusionSignificant changes related to inflammation response occur in acute phase after injury of RST.

The effect of olfactory ensheathing cell transplantation combined with walking training on neurofunction recovery in rats after spinal cord contusion / 中华物理医学与康复杂志

Objective To explore the effect of olfactory ensheathing cell (OEC) transplantation combined with walking training on neurofunction recovery in rats after spinal cord contusion. Methods Forty adult female rats aged (75 ± 1 ) days were subjected to experimental spinal cord contusion at the T10 level using a New York University impactor at a height of 25 mm. They were then divided into 4 groups: ( 1 ) an OEC transplantation combined with walking training (OEC-walking training) group, (2) an OEC transplantation (OEC) group, (3) a walking training combined with Dulbecco's modified Eagle medium injection (DMEM) (walking training-DMEM) group, and (4) aDMEM injection (SCI-DMEM) group. The OEC transplants and DMEM injections were performed 2 weeks post-injury. Walking training began at the 7th day post-injury and consisted of daily sessions (once daily, 5 days a week for 10 weeks) of quadrupedal treadmill training, starting from 15 min and gradually increasing to 30 min daily, at speeds starting from 3 m/min and gradually increasing in accordance to the condition of the rats. Locomotor function recovery of the rats' hindlimbs was evaluated weekly using the Basso, Beattie and Bresnahan (BBB) locomotor rating scale.The expression of tyrosine hydroxylase ( TH ) was detected in the injured region of the lumbar spinal cord. Results The BBB scores of rats in the OEC-walking training group and the walking training-DMEM group improved significantly from the 4th week post-injury compared to the SCI-DMEM injection group. Rats in the OEC transplantation group had a significant improvement in BBB scores at the 5th to 8th weeks post-injury. At the end of the 11th week post-injury, the average BBB scores were 13.14 ± 0.24 in the OEC-walking training group, 11. 64 ± 0.56 in the OEC transplantation group, 12.29 ±0.64 in the walking training-DMEM group and 11.07 ± 0.84 in the SCI-DMEM group.The OEC-walking training group scored significantly higher than the other 3 groups. Although the number of TH-positive neurons in the lumbar spinal cord was not significantly different among the groups, the morphology of TH-positiveneurons in the OEC-walking training group and the walking training-DMEM group was different from those in the OEC transplantation group and the SCI-DMEM group. Conclusions OEC transplantation combined with walking training can effectively promote the functional recovery of the hindlimb. The plasticity of the descending TH system and of motoneurons of the ventral horn of the lumbar spinal cord might mediate the changes.

Spinal cord plasticity and the effect of step training on functional recovery after incomplete spinal cord injury / 中华物理医学与康复杂志

Objective To explore neural plasticity around an injured region of the spinal cord and the effects of step training on functional recovery after incomplete spinal cord injury (SCI). Methods Adult female Sprague-Dawley rats ( n = 24) were induced with spinal cord contusion at T10 and divided into a step training group and a control group ( 12 rats in each). Training started from the 7th day post-injury and lasted for (20 ± 10)min per day, 5 days per week, for 9 weeks. Treadmill speeds were 3 m/min at the beginning, and adjusted daily according to each rat's tolerance up to 11 m/min or more. The functional recovery was measured weekly with the open-field locomotor rating scale of Basso, Beattie and Bresnahan (BBB score). The expression of glial fibrillary acidic protein (GFAP), neurofilament protein (NF) and growth-associated protein-43 (GAP-43) in the spinal cord around the injured region were detected. Results After 70 days of step training, the average BBB score of the step training group reached ( 12.86 ± 0.94 ), significantly higher than that of the control group ( 10.71 ± 0.95 ). The expression of NF and GAP-43 around the injured region increased significantly more in the step training group than among the controls. Conclusions Step training can promote functional recovery and neural plasticity in rats after incomplete SCI.

Construction of Tissue Engineered Nucleus Pulposus with Adipose-derived Stromal Cells and Thermo-Sensitive Scaffold / 中国康复理论与实践

@#ObjectiveTo evaluate the feasibility of using injective chitosan scaffold and induced- adipose-derived stromal cells(ADSCs) to construct tissue engineered injectable nucleus pulposus (NP).MethodsADSCs were harvested from rabbits to culture 3 passage and induce 2 weeks to NP-like cells. The injective chitosan hydrogel scaffold was made of chitosan and disodium β-glycerophosphate. Its physical properties and gross condition were observed. The tissue engineered NP was constructed by compounding the scaffold and induced-ADSCs. Then, the viability of ADSCs in the scaffold was observed 2 days after compound culture and the growth condition of ADSCs on the scaffold was observed by scanning electron microscope (SEM) 14 days after compound culture. Expression of aggrecan and Col Ⅱ mRNA in ADSCs were analyzed by RT-PCR 14 days after inductive culture and compound culture.ResultsThe injective chitosan hydrogel was liquid at room temperature and solidified into gel at 37 ℃ (10～15 minutes) due to crosslinking reaction. Acridine orange/propidiumiodide staining showed that the viability rate of induced-ADSCs in chitosan scaffoldl was above 90%. Scanning electron microscope observation demonstrated that the ADSCs were distributed in the reticulate scaffold. RT-PCR results showed that the expression of Col Ⅱ and aggrecan mRNA in induced-ADSCs demonstrated differentiation of ADSCs to a phenotype which showed similarities to NP cells, and the co-culture NP-like cells with scaffold didn`t cause dedifferentiation.ConclusionWith good cellular compatibilities, C/Gp scaffold may be a potential NP cells carrier for tissue engineered NP.

Migration of Olfactory Ensheathing Cells Transplanted in Normal or Contused Spinal Cord of Rats / 中国康复理论与实践

@#ObjectiveTo explore the migration, effect on axon growth of olfactory ensheathing cells (OECs) transplanted in contused spinal cord of rats. Methods8 adult female rats were induced spinal cord contusion at T10 cord by NYU impactor (H=25 mm), and received OECs transplantation in 1 mm rostral and caudal to injury site，or injury site. Other 4 adult female rats were uncovered the spinal cord at T8-10 cord, and injected GFP+OECs at T10 cord. 1 week after transplantation, all animals were executed and the T8-11 cord (15 mm long) contained the entire injury site were observed for the migration of OECs and immunostained for neurofilament (NF) and myelin basic protein (MBP). ResultsThe OECs injected in injury site largely migrate longitudinally and laterally from the injection site, OECs injected in 1 mm rostral and caudal to injury site of contused spinal cord, migrate longitudinally and laterally from the injection site to the injury site in white and gray matter, and some along the central canal. OECs injected in normal spinal cord migrated longitudinally and laterally from injection site, too. The transplanted OECs expressed a little NF and MBP. ConclusionThe transplanted OECs are able to migrate in spinal cord and promote axon regeneration and remyelination.

Change and Effect of Neurotransmitters in Spinal Cord after Spinal Cord Injury(rerview) / 中国康复理论与实践

@#The neurotransmitter plays an important role in the neurologic functional recovery of animals and patients with spinal cord injury. This article reviews the neurotransmitters in spinal cord injured of rats and the effect of some therapy on them.

p38 MAPK Signaling Pathway and Disc Degeneration (review) / 中国康复理论与实践

@#p38 signaling pathway is an important branch of mitogen-activated protein kinase（MAPK)-mediated signal transduction pathway. It plays pivotal roles in various physiological and pathological events, such as inflammation, cell stress, apoptosis, cell cycle and growth. Previous research in osteoarthritis, p38 participation was found in the inflammatory factors activate, cartilage cell apoptosis etc. Disc degeneration, also associated with inflammatory response, apoptosis and pathological changes which p38 MAPK signaling pathways role is not clear. Some reports about this area are reviewed in this article.

Comparison of Osteogenic Potential in vivo between Autologous Bone Marrow Mesenchymal Stem Cell Implanting and Fibrin Sealant Combined with Recombined Human Bone Morphogenetic Protein-2 Grafting / 中国康复理论与实践

@#Objective To investigate the osteogenic potential for size-critical bone defect of fibrin sealant combined with recombined human bone morphogenetic protein-2 (rhBMP-2) grafting and varied autologous bone marrow mesenchymal stem cells (BMSCs) implanting in vivo. Methods BMSCs were cultured and induced with osteogenic supplement (OS) medium. BMSCs with and without OS induction were collected and percutaneously autologous injected respectively into the 15 mm bone defect of experimental rabbit model. The grafts were BMSCs, osteo-induced BMSCs, BMSCs and osteo-induced BMSCs, BMP combined with fibrin sealant, 0.9% NaCl solution. Osteogenesis at the defect area was assessed with regular radiography, histology and biomechanics. Results The FS/BMP group and the BMSCs+osteo-induced BMSCs group achieved complete bone healing with medullary cavity united, with the most new bone formation and the maximal load among those groups. Conclusion The osteogenic potential of both osteo-induced BMSCs combined with BMSCs and FS/BMP are similar, which are superior to that of BMSCs or osteo-induced BMSCs along.

Spinal Cord Plasticity (review) / 中国康复理论与实践

@#Spinal cord plasticity includes spontaneous neuronal plasticity and task-dependent plasticity which was respectively driven by spinal cord injury and special treatment.Spontaneous plasticity occurred at neuronal and synaptic sites,displaying various forms of axonal sprouting,unmasking of relatively ineffective functional connections and modification of synaptic efficacy.Task-dependent plasticity demonstrated reactivation of central generator pattern and functional reorganization of extensive spinal circuits.Exploration,induction and guidance of spinal cord plasticity will help determine the most optimal treatments and expand therapy methods to further promote function recovery of patients with spinal cord injury.

Application of Low Frequency Vibration in Osteogenesis / 中国康复理论与实践

@#Mechanical loading provides an anabolic stimulus for bone. Low frequency vibration is a kind of mechanic stimulus, which can promote osteogenesis in certain frequency, mode and intensity. The osteogenesis promotion of low frequency vibration may be associated with the membrane ion channels, integrin-cytoskeleton complex triggering mitogen activated protein kinase (MAPK) signal and second messengers regulating RANK-RANKL-OPG axals.

Influence of low frequency vibration on osteogenesis of bone marrow stromal cells and its mechanism / 中国康复理论与实践

@# Objective To explore the effect of low frequency vibration (LFV) on osteogenesis of bone marrow stromal cells (BMSCs) and OPG mRNA,RANKL mRNA expression.MethodsBMSCs from 10-week-old female SD rats were cultured and randomly divided into 2 groups:control group and vibration group.The BMSCs of vibration group was given LVF with 20 Hz,0.25 g,2 times/d,10 min/time for 7 days.The LFV was given from the eleventh day after BMSCs cultured.The osteogenesis and OPG mRNA,RANKL mRNA of all BMSCs in two group were tested at the end of LFV.ResultsCompared to the control groups,the BMSCs growth and proliferation improved in vibration group,but the alkaline phosphatase (ALP)activity and the number of mineral nodule did not changed significantly.The OPG mRNA elevated in vibration group,while the RANKL mRNA showed no change.ConclusionThe LFV may increase the growth and proliferation of BMSCs,which is attributed to the elevated OPG gene expression.The osteogenesis improved no significance,which may be associated with the too short vibration time.

Effects of Low Frenquency Vibration on Secondary Osteoporosis after Spinal Cord Injury / 中国康复理论与实践

@#Objective To observe the effect of low frequency vibration (LFV) on bone metabolism, bone mass density (BMD), bone histomorphometric and biomechanical characterization in rats with secondary osteoporosis (OP) after spinal cord injury (SCI).MethodsSCI model was established with 50 SD rats by transecting spinal cord completely at the level of tenth thoracic vertebra, and the animals were randomly divided into 5 groups: SCI 6-week control group, SCI 12-week control group, vibration 6-week (Vi 6w) group, vibration 12-week (Vi 12w) group and vibration 6-12 week (Vi 6-12w) group. All rats of vibration groups accepted LFV (frequency=20 Hz, acceleration=0.15 g) with 10 minutes once, twice per day, and 6 days per week. The LFV was given from the forth day postoperation to the end of the sixth week in Vi 6w group, and to the end of twelfth week in Vi 12w group, while from the seventh week postoperation to the end of twelfth week in Vi 6-12w group. All animals were sacrificed when LFV test finishied. The serum alkaline phosphatase (ALP), bone glaprotein (BGP) and serum calcium (Ca2+)/BMD of femur and the fifth lumbar vertebra (L5)/bone histomorphometric characterization of tibia/bone biomechanical characterization of femur and L5 were measured.ResultsCompared with control groups, the serum Ca2+ and BMD of promixal femur improved significantly in rats of Vi 6w group ( P<0.05), while the maximal load of L5 increased significantly in rats of Vi 12 group ( P<0.05). There were no changes in rats of Vi 6-12w group ( P>0.05).ConclusionThe early treatment of LFV may improve the secondary OP of rats with SCI, but the effect is different in different sites of rats' body. The late treatment of LFV can't improve the secondary OP, but may keep rats with SCI from deteriorating.

Introduction of Spinal Cord Independence Measure Ⅲ / 中国康复理论与实践

@#: Assessment of functional ability is main item of outcome measure in patients with spinal cord injury(SCI).The assessment methods include Barthel Index(BI),Modified Barthel Index(MBI),Functional Independence Measure(FIM),Spinal Cord Lesion Independence Measure(SCIM) and Walking Index for Spinal Cord Injury(WSCI).SCIM was specifically developed to measure functional ability for spinal cord lesion,which was modified for two times and verified in multicenter international study.The result of multicenter international study showed that SCIM is a reliable and useful quantitative representation of a specific construct of independence after SCI.This justifies the use of SCIM in clinical research,including cross-cultural trials.Meanwhile,further refinement is needed.

Effect of aerobic exercise training on plasma apolipoprotein in severe simple obese children / 中国康复理论与实践

@#ObjectiveTo observe the effect of aerobic exercise training on plasma apolipoprotein in severe simple obese children.Methods7 severe simple obese children had 10 week exercise training and plasma apolipoprotein AⅠ(ApoAI) and B (ApoB) were tested before and after training. ResultsComparing with the control group, the ApoB in obese children increased significantly <0.01) and reduced after aerobic exercise training (P<0.05). The ApoAⅠ in obese children showed a decreasing intendcy (P>0.05). ConclusionThe aerobic exercise training may improve the plasma apolipoprotein.

The application of aqua-walking in patients with spinal cord injury / 中华物理医学与康复杂志

Objective To determine the effect of walking in water on patients with spinal cord injury~SCI). Methods Twenty SCI patients were recruited in this study, and these patients were randomly divided into a control group ~10 cases) and an experiment group~10 cases).The patients of the experiment group were administered aqua-walking and conventional physical therapy~PT),and the patients of control group were administered the conventional PT only. Results After 10 weeks of therapy, the muscle tone, motor index score and functional ambulation classification of experiment group were ameliorated significantly in comparison with the control group(P