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Objective:To improve clinicians′ understanding of developmental and epileptic encephalopathy (DEE) caused by PPP3CA gene mutation. Methods:Clinical data of a patient with DEE diagnosed in the First Department of Neurology, Hebei Children′s Hospital in September 2018 were collected. The whole-exome sequencing of the proband′s family was performed, and the characteristics of gene mutation were analyzed. Literature review was carried out based on the reported cases related to PPP3CA gene. Results:The proband, a 3 months and 20 days old girl, was admitted to the hospital with a history of paroxysmal confusion with extremities shaking for 2 days. The clinical manifestations included frequent epilepsy seizures and hypoevolutism. Brain magnetic resonance imaging showed that the bilateral frontotemporal extracerebral space was slightly wider. The video electroencephalography showed hyperarrhythmia and a cluster of spastic seizures. Whole exome sequencing of the family revealed that the proband had a heterozygous de novo frameshift truncating mutation in the PPP3CA gene: c.1255-1256delAG (p.Ser419Cysfs*31). From the establishment of the database to May 2022, 8 foreign literatures and 1 Chinese literature were retrieved, and a total of 21 children with PPP3CA gene mutation were reported, with clinical developmental delay, cognitive dysfunction and abnormal electroencephalography activity. Conclusions:The frameshift truncating mutation of the PPP3CA gene (c.1255-1256delAG) is the hereditary etiology of this patient. For cases of frequent seizures with poor efficacy of antiepileptic drugs, and developmental delay, genetic testing should be performed to confirm diagnosis and treatment.
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Objective:To summarize the clinical features and treatment of voltage-gated sodium channel α2-subunit (SCN2A) gene-related epilepsy.Methods:The clinical manifestion, video electroencephalography, head magnetic resonance imaging of a child diagnosed with epilepsy in Hebei Children′s Hospital were analyzed. Additionally, blood samples of the family were tested for the whole exome sequencing.Results:The boy aged 20 months,had been developed backward since childhood and accompanied by autism spectrum disorder manifestations. Seizures occurred at 19 months, manifested as isolated and clusters of spasms or generalized tonic seizures. The whole exome sequencing of the family revealed that the proband had c.4543C>T heterozygous mutation in the SCN2A gene, and both parents showed wild type. The effect of multiple anti-epileptic drugs on the children was not good, but the epilepsy was controlled after the final addition of perampane.Conclusions:The c.4543C>T heterozygous variant of SCN2A gene is the cause of disease in this child. This variant can cause epilepsy with autism spectrum disorder. The location and type of SCN2A mutations are strongly related with phenotypes, and a clear genetic etiology contributes to accurate treatment of children.
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Objective:To investigate the expression level and significance of peripheral lymphocyte immunity and humoral immunity in children with autoimmune encephalitis and children with mycoplasma encephalitis.Methods:From July 2018 to July 2019, 52 children with autoimmune encephalitis (autoimmune encephalitis group) and 68 children with mycoplasma encephalitis (mycoplasma encephalitis group) in Hebei Children′s Hospital were enrolled, and 43 children with mycoplasma infection who were treated at the same time were selected as control group. Serum immunoglobulin (IgA, IgG, IgM) levels were detected using a fully automated biochemical analyzer, and peripheral T-lymphocyte subsets (CD 3+, CD 4+, CD 8+, CD 4+/CD 8+) levels were measured using flow cytometry. The receiver operating characteristic (ROC) curve was used to analyze the clinical differential diagnostic value of serum immunoglobulin and T lymphocyte subsets indicators for autoimmune encephalitis and mycoplasma encephalitis. Results:The levels of serum IgA, IgM in three groups had significant differences ( P<0.05); the levels of serum IgA, IgM in mycoplasma encephalitis group were significantly higher than those in autoimmune encephalitis group and control group [(1.64 ± 0.56) g/L vs. (1.23 ± 0.48),(0.82 ± 0.25) g/L; (1.81 ± 0.45) g/L vs. (1.56 ± 0.48), (1.12 ± 0.34) g/L]( P<0.05); the level of IgG in three groups has no significant difference ( P>0.05). The levels of CD 4+,CD 8+ in mycoplasma encephalitis group were significantly higher than those in autoimmune encephalitis group and control group [(31.21 ± 3.86)% vs. (28.76 ± 3.57)%, (26.58 ± 3.49)%; (26.86 ± 1.89)% vs. (25.90 ± 2.16)%, (24.71 ± 2.46)%]( P<0.05); the level of CD 4+/CD 8+ in three groups has no significant difference ( P>0.05). The areas under the curve of serum IgA, IgM, CD 3+, CD 8+, CD 4+ and five combined diagnosis were 0.971, 0.835, 0.833, 0.631, 0.706 and 1.000. The optimal critical values were 1.255 g/L, 1.465 g/L, 57.435%, 26.456%, 29.750% and 1.858. The sensitivity was 100.0%, 64.7%, 95.6%, 92.6%, 69.1% and 100.0%, and the specificity was 95.6%, 57.0%, 57.1%, 23.4%, 36.4% and 100.0%. Conclusions:The expression levels of serum IgA, IgM and peripheral serum CD 3+, CD 4+ and CD 8+ in children with autoimmune encephalitis are significantly lower than those in children with mycoplasma encephalitis, and IgA, IgM, CD 3+, CD 8+ and CD 4+ has high differential diagnosis value.
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Objective To analyze the clinical characteristics of Brucellar spondylitis and evaluate its surgical treatment effect.Methods From 2002 to 2015,the clinical data of diagnosed patients with Brucellar spondylitis aged ≥65 years old were collected retrospectively in the First Affiliated Hospital of Hebei North University,patients' clinical manifestations and characteristics,laboratory diagnosis,imaging changes and surgical treatment effects were analyzed.Pain and imaging scores and clinical efficacy were evaluated according to follow-up data within 12 months after surgery.Results A total of 38 cases of senile patients with Brucellar spondylitis were studied.The main clinical symptoms during the visit were persistent severe lumbar back pain,local tenderness,obvious percussion pain,muscle spasm,and constrained movements of spine.Rose bengal plate test (RBPT) was positive in 11 cases,serum tube agglutination test (SAT) titer was higher than 1:100 in 28 cases.During the operation,28 cases of patients with inflammatory granuloma or abscess were cultured positive for Brucella.Before surgery,manifestations of X-ray:of which 29 cases showed intervertebral space narrowing,the density increased,and the margins of the verbebral bodies destructed;of which 9 cases showed vertebral body bone sclerosing hyperplasia in the shape of a bird's beak,forming a bone bridge with the adjacent vertebral body margin.Manifestations of CT:of which 29 cases showed different sizes and multiple lesions of the vertebral body margin,and hyperplasia and sclerosis around the lesion,and destruction of the lesion in the new bone tissue to form "lacy vertebra";in 9 cases,the destruction of intervertebral discs showed isodensity shadow,and the hyperplasia and sclerosis of articular surface resulted in the formation of "labial" osteophytes;of which 10 cases showed vertebral body destroyed the plane in which the bilateral psoas were widened and abscess formed.Manifestations of MRI:of which 38 cases showed that the vertebral bodies,intervertebral discs,accompaniment and the intra of vertebral canal were uneven high signal and dural sac or cauda equina compression.The pain scores [(2.1 ± 0.2),(0.7 ± 0.4),(0.2 ± 0.1),(0.0 ± 0.0),(0.0 ± 0.0) scores] at 2 weeks and 1,3,6,12 months after surgery were significantly lower than that before surgery [(9.2 ± 0.3) scores,P ＜ 0.05].The blind imaging evaluation scores [(4.68 ± 0.04),(4.92 ± 0.08),(5.00 ±0.00) scores] at 3,6 and 12 months after surgery were significantly higher than that before surgery [(0.37 ± 0.03) scores,P ＜ 0.05].The cure rates of clinical efficacy [92.11％ (35/38),100.00％ (38/38)] at 6 and 12 months after surgery were significantly higher than that of 3 months after surgery [78.95％ (30/38),P ＜ 0.05)].Conclusions Senile Brucellar spondylitis has the typical imaging features,laboratory examination is helpful to early diagnosis.Surgery is much better to relieve the pain and stable spine function and accelerate rehabilitation.
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Objective To study the EEG discharge index, intelligence test and event-related potential P300 in BECT, and to analyze the change of EEG discharge index and cognitive function before and after the treatment.Methods Sixty patients with BECT were enrolled in this study, they were treated with EEG, intelligence tests and P300 before and after the treatment.Results (1) The EEG discharge index were reduced remarkly after treatment in BECT with levetiracetam and lamotrigine, the difference was statistically significant (P ＜ 0.05).(2) Comparing before and after 3 or 6 months treatment, the latency of P300 had reduced with significant difference (P ＜ 0.05).(3) After 3 months treatment, VIQ and FIQ has no obvious improvement, but PIQ has improved.After 6 months treatment, VIQ、 PIQ and FIQ were improved.The difference was statistically significant (P ＜ 0.05).(4) There was a negative correlation of EEG P300 latency (r =0.175), as well as there was a negative correlation between EEG discharge index and intelligence test (r =0.044).Conclusion There is impaired cognitive function in BECT, especially the more frequently the EEG discharge, the more extended of P300 latency, as well as the more serious damage of intelligence and cognition after treatment.The intelligence were improved after treatment with Levetiracetam and lamotrigine, the longer the treatment time, the more obvious of intelligence levels improve.
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Objective To study the effect of fascial flap with vessels inducing the vascularization of uncel-lular tissue engingeering complex and the regenration of bone on the repair of bone defect, so as to provide the basis for the clinical application. Methods An animal model of bone defect on adult Newzland rabbits'right radial bone was established .and autologous red bone marrow were taken out and mixed into uncellulax tissue engineering comple-xes with OAM which contained BMP. The experiment animals were divided into two groups : experiment group and control group( n = 12 for each ). The control group was only implanted with complexes, meanwhile, the experiment group had fascial flap with vessels. By microsurgery technology,a non-named fascial flap with vessels was prepared, which belonged to capillary net,around the bone defect,and let it wrap tissue engineering complex,fill up bone de-fect. In a certian time, radiograph(X-ray) and light density measure was conducted, gross morphology and histological inspection was exmained. Bone shape measurement analysis and image of vessel analysis were conducted. All the sta-tistics were analyzed by the SPSS 11.5 software. Results Because of mechanically preventing fiber connective tis-sues and surrounding soft tissues from entering the areas of bone defect by fascial flap, it can keep bone defect having a relative stable environment ;The subfascial space itself, and also the shape and mass of filled-in subject had the de-cisive effect on the results of the regeneration of the bone; Owing to the establishment of blood supply during the con-structing tissue engineering complex. The experiment group was obviously superior to the control group. Compared with control group,the absor bance obviously increased in experiment group [(0. 732 ± 0. 021 ) vs (0. 651± 0.018)] (P < 0. 001 ) four weeks after the operation; also the bone trabecular body was significantly increased [(2.32±2.57)% vs(19.37±3.52)% ,(8.37±3.52)% vs(30.24±3.42)% ,(28.57±2.98)% vs(58.76± 4.62)% ,(47.24±3.42)% vs(88.72±5.84)%] ,and capillary area [(5.04±1.62)% vs(17.53±2.86)%, (10.37 ±2.96)% vs(35.24±1. 13)%,(18.20±2. 12)% vs(48.76±4. 62)%,(17.82 ±2. 74)% vs (57.72 ±5.84)%] (P <0.05) at each time period(4 weeks,8 weeks,12 weeks,and 16 weeks after operation). Despite of growth of implant's internal vessel, the number and speed of forming bone trabecula and cartilaginous tis-sue, even developing of mature bone structure, recreating of diaphysis structure, reconstructing of marrow cavity, ab-sorbing and decomposing of implant, the experiment group was obviously superior to the control group. Conclusions The induction of fascial flap with vessels shows double effects, one of which is the vascularization of uncellular tis-sue engineering complex and the other is membrane guided bone regeneration, So the method has a wonderful effect on the repair of bone defect.
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BACKGROUND:Foreign scholars have obtained a success to cure fracture by implanting the complex of red bone marrow and formation factor.Due to the in vitro culture process is not necessary,the complex of red bona marrow and scaffold formation factor is only required to be implant immediately,called uncellular tissue engineered bone.OBJECTIVE:This study innovatively constructs uncellular tissue engineered bone with autologous red bone marrow wrapped by fascial flap with pedicle,and validates the superiority of repairing bone defects.DESIGN,TIME AND SETTING:Homebody controlled animal experiment was performed in the Hebei North University and the Experiment Center of the Affiliated Hospital to Hebei North University from December 2007 to February 2009.MATERIALS:A total of 24 News Zealand albino rabbits,aged 4-5 months; uncellular tissue engineered bone was a mixture of autologous red bone marrow and osteoinductive absorbing materials containing bone morphogenetic proteins.METHODS:Bone defect models were induced on adult New Zealand rabbits' right radial bone,left side served as control group,only implanted with osteoinductive absorbing materials complex,while right side served as experiment group,which contained fascial flap with pedicle.A fascial flap prepared with capillary network containing nameless blood vessel pedicle was located to be adjacent to the bone defect using micro-surgical technique,to wrap the tissue engineered bone and to fill the bone defect.MAIN OUTCOME MEASURES:At 4,8,12,16 weeks postoperation,six rabbits were tested by radiograph,spectrodensitometry,gross morphology observation,histological inspection,quantitative analysis of bone morphometry in bone defect area and analysis of vessels image in the junctional zone.RESULTS:①X-ray determination:At 16 weeks,the implant surrounding bone defects formed bone shaft structure in the control group,cortical bone was not continuous and medullary cavity was obstructed; in the experiment group,normal bone shaft structure was formed and recanalization of medullary cavity was observed.②Histological observation:At 16 weeks,few vessels grew into implant in the control group,mature bone trabecular were observed,and medullary cavity was obstructed; in the experiment group,the implanting materials were completely degraded and substituted by new bone,mature bone structure formed and recanalization of medullary cavity was observed.③Quantitative analysis of bone morphometry in bone defect area:At 4,8,12,16 weeks postoperation,the volume of bone trabecula in the experiment group was more than that in control group (P ＜ 0.05).④Analysis of vessels image in the junctional zone:The area of vessels in the unit area in the experiment group was greater than that in control group in every time stage (P＜0.05).CONCLUSION:The uncellular tissue engineering complex constructed by autologous red bone marrow wrapped by fascial flap with pedicle shows double effects of hymeno-inducing regeneration of bone and the vascularization.It is feasible to repair large-segment bone defects.It has obvious therapeutic effect in the aspects such as reducing the bone defect reparation time and advancing the quantity and quality of the bone generation.
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[Objective] To improve the clinical diagnosis and therapic effect and to discuss the clinical and imageologic manifestations and treatment of the brucellosis spondylitis(BS).[Method]Sixteen patients with BS were all taken radiographs and CT scanning and seven cases were also taken MRI.The test of SAT,test of RBP and ELISA were used in accessing BS.Pathogenic bacteria were examined in 11 cases.All cases were treated with anti-brucellosis agents and other conservative measures.Seven cases were followed with a focal debridement and 2 cases withminimal invasive surgery.[Result]Fourteen cases were misdiagnosed as spine TB before they were hospitalized with rate of error diagnosis 87.5%,even careful clinic and radiographic examination,and CT scanning had been taken,and 5 cases were misdiagnosed by MRI with the misdiagnosis rate 71.4%.The BS occurred far more in the lumbar vertebrae than in the thoracic vertebrae with its highest morbidity at the L4.Among 16 cases,the titers of SAT test were all beyond 1.160,the test of RBP all showed positive and IgG,IgM showed positive by ELISA.Eleven cases was confirmed BS diagnosis by phthogenic bacteria examination.Only 12 cases were followed up for 1～2 years(including 8 surgical-treated cases).Ten cases were cured without recurrence,and 2 cases improved.[Conclusion]Brucellosis spondylitis commonly misdiagnose before hospitalization.Characteristic imageologic changes and clinical appearance,combined tests of SAT and RBP are useful for diagnosis.Long-term and enough amount sensitive antibiotics and other conservative measures is still the major and reliable measures in treatment of BS and prevent recurrence,additional minimal invasive surgery or focal debridement could shorten the course of therapy,increase the cure rate and decrease its complication.
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[Objective]The naming,pathogeny,clinic,patho logical character and image manifestation of the parosteal lipoma were discussed in this paper combined with the literatures.[Method]Combined the 20 cases reported in the internal literatures,the photographs have been taken in all the 34 cases,CT in the 18 cases,MRI in the 4 cases.[Result]The data demonstrated that this disease betided in any age,more in the adult,developed more in the long canal bone of the limb,and developed in the flat bone(pelvis,scapula,costal bone,patella),anomaly bone(thoracic verthbrae,lumbar,ansa sacralis),cauda bone,short canal bone and instep bone secondly.The rate of the error diagnosis were 40.91% in the clinic,27.27% in the X-ray and no one in the CT and MRI.The excision was done in all the 34 cases,and lipoma were diagnosed in pathology,3 cases were malignant slightly.Followed up for 2 to 10 years,only 1 cases recurring and malignant.[Conclusion]The name of the parosteal lipoma is optimal,the pathogeny is not clear,and related to the heredity,hurt and inflamation.There is lipoma with bone pedicel in pathology;and adipose tissuse in cytology.There are characteristic changes in the X-ray,CT and MRI.
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[Objective]To analyze the clinical diagnosis and therapic level,the clinical manifestation,image manifestation and surgical treatment of the sacral epidural cystis.[Method]Eighteen cases with the sacral epidural cystis were analyzed retrospectively,17 cases(95%)with dull pain of the lumbosacral area,16 cases(90%)with radiated pain of the lower limbs and intermittent limping,14 cases(77%)with functional lesion of the nerves,2 cases(11%)with tumor of pelvic,cavity or hypogastrium.All of them were taken AP views of X-ray,17 cases taken two-dimentional CT scannings,11 cases taken MRI,7 cases taken myelography and 4 cases taken CTM scannings.[Result]The rate of the error diagnosis was 78% in the clinic,while the success diagnosis rate was 17% in the X-ray,72% in the CT,100% in the MRI,myelography and CTM.The exairesis were done in all the 18 cases,and the epidural cystis were diagnosed in pathology.No reoccurrance was found at 15~32 months follow-up.[Conclusion]There are characteristic changes in the imageology and clinic of the sacral epidural cystis.Using minimall invasive surgery(laparoscope vertebroscope and epiduroscopy)has no confirm result till now.Microsurgical techniques contribute to the improvement of the total removal rates for the intraspinal tumors.So operation is reliable method to treat this disease and to prevent its recurring.