An evaluation of 16 patients with cervical spondylosis undergoing PCB (a new anterior cervical instrumental system combining an intradiscal cage with an integrated plate,PCB) is presented. Four patients underwent surgery for cervical myelopathy and 12 for cervical radiculopathy.There were 11 males and 5 females.The average age was 46 years (ranging from 31～67 years).The time of follow up was 3～16 months after operation.Fixation at one level was performed in 12 patients,and at two levels in 4. The results revealed that the technique was easy to learn and implement,without intraoperative complications.After surgery no screw backout or device failure was identified.Symptoms improved significantly in 14 patients.Complications in donor site were rare. An external collar support was unnecessary after operation.

All twenty seven patients suffered from Ⅱ grade spondilolisthesis were treated by posterior decompression, fixation with RF system and interbody fusion with TFC. One to three yearsafter operation, pain relief rate was 95%, lumbar fusion ratewas 95%,slip correction was 93.8%, and disc space was increased by 34%. It is concluded that this kind of operation can achieve satisfactory clinical results.

Objective To investigate the potential values of magnetic resonance elastography (MRE)for evaluating the brain tumor consistency in vivo.Methods Fourteen patients with known solid brain tumor(5 male,9 female;age range:16-63 years)underwent brain MRE studies.Informed consent was obtained from all patients.A dedicated external force actuator for brain MRE study Was developed.The actuator was fixed to the head coil.During scan.one side of the actuator was attached to the patients'head.Low frequency oscillation Was produced by the actuator and caused shear waves propagating into brain tissue.The pulse sequence used in the study Writs phase-contrast gradient-echo sequence.Phase images of the brain were obtained and the shear waves within the brain were directly imaged.Phase images were processed with local frequency estimation (LFE) technique to obtain the elasticity image.Consistency of brain tumors Was evaluated at surgery and Was classified as soft,intermediate,or hard with comparison to the white matter of the brain.Correspondence of MRE evaluation with operative results was studied.Results The elastic modulus of the tumor Was lower than that of white matter in 1 patient,higher inll patients,and similar in 2 patients.At surgery,the tumor manifested a soft consistency in I patient,hard consistency in 11 patients,intermediate consistency in 2 patients.The elasticity of tumors in 14 patients evaluated by MRE was correlated with the tumor consistency on the operation.Conclusion MRE Can noninvasively display the elasticity of brain tumors in vivo,and evaluate the brain tumor consistency before operation.

Objective To investigate short-term effect of percutaneous discectomy combined with radiofrequency ablation with Disc-FXon contained lumbar disc herniation. Methods 36 patients were reviewed and followed up with Japanese Orthopaedic Association score(JOA score), the Visual Analogue Score (VAS) and Oswestry score for 12 months. Results The scores of JOA score, VAS and Oswestry improvedsignificantly (P<0.01) after operation. Conclusion Percutaneous discectomy combined with radiofrequency ablation with Disc-FXis effective on contained lumbar disc herniation.

OBJECTIVETo evaluate the clinical effect of PCB (a new anterior cervical instrumental system combining an intradiscal cage with an integrated plate) in treating traumatic cervical intervertebral disc herniation.

METHODSAnterior decompression and PCB internal fixation were used in 22 patients with traumatic cervical intervertebral disc herniation. They were followed up from 3 to 16 months and analyzed by symptom and image data. Among them, 16 patients underwent fixation at one level and 6 patients at two levels.

RESULTSThis technique did not cause intraoperative complications. After surgery no screw backout or device failure was found. Based on the JOA grade, 20 patients improved clinically and 2 gently because of serious cervical stenosis. The general excellent rate was 90.9%.

CONCLUSIONSPCB internal fixation is stable. Morbidity of donor and acceptor sites is less. No collars are needed after surgery.

Adult ; Bone Plates ; Cervical Vertebrae ; Equipment Design ; Female ; Humans ; Intervertebral Disc Displacement ; surgery ; Male ; Middle Aged ; Orthopedic Fixation Devices ; Orthopedic Procedures

OBJECTIVETo study the effect of allitridum on rapidly delayed rectifier potassium current (IKr) in HEK293 cell line.

METHODSHEK293 cells were transiently transfected with HERG channel cDNA plasmid pcDNA3.1 via Lipofectamine. Allitridum was added to the extracellular solution by partial perfusion after giga seal at the final concentration of 30 µmol/L. Whole-cell patch clamp technique was used to record the HERG currents and gating kinetics before and after allitridum exposure at room temperature.

RESULTSThe amplitude and density of IHERG were both suppressed by allitridum in a voltage-dependent manner. In the presence of allitridum, the peak current of IHERG was reduced from 73.5∓4.3 pA/pF to 42.1∓3.6 pA/pF at the test potential of +50 mV (P<0.01). Allitridum also concentration-dependently decreased the density of the IHERG. The IC50 of allitridum was 34.74 µmol/L with a Hill coefficient of 1.01. Allitridum at 30 µmol/L caused a significant positive shift of the steady-state activation curve of IHERG and a markedly negative shift of the steady-state inactivation of IHERG, and significantly shortened the slow time constants of IHERG deactivation.

CONCLUSIONAllitridum can potently block IHERG in HEK293 cells, which might be the electrophysiological basis for its anti-arrhythmic action.

Allyl Compounds ; pharmacology ; Anti-Arrhythmia Agents ; Delayed Rectifier Potassium Channels ; drug effects ; Ether-A-Go-Go Potassium Channels ; HEK293 Cells ; drug effects ; Humans ; Patch-Clamp Techniques ; Potassium Channel Blockers ; pharmacology ; Sulfides ; pharmacology ; Transfection

OBJECTIVE: To explore the prenatal screening and diagnosis for a pair of monochorionic-diamniotic (MCDA) twins discordant for 45,X/46,XX mosaicism. METHODS: Amniotic fluid samples were taken from both twins for whom non-invasive prenatal testing has signaled a high risk for sex chromosomal abnormality. Uncultured amniotic fluid was analyzed by fluorescence in situ hybridization (FISH) and single nucleotide polymorphism array (SNP-array). Conventional G-banded karyotyping analysis was performed on the cultured amniotic fluid. RESULTS: Metaphase chromosome analysis showed that one of the twins had a mos 45,X[11]/46,XX[26] karyotype, while the other had a normal karyotype. FISH and SNP-array applied on uncultured amniotic fluid revealed about 30% mosaicism in one of the twins. The twins were confirmed to be monozygotic by SNP-array analysis. CONCLUSION To avoid confusion arising from discordant karyotypes in MCDA twins with abnormal non-invasive prenatal testing (NIPT) results, dual amniocentesis should be carried out to obtain amniotic fluid samples for chromosomal as well as molecular analysis. To determine the ratio of 45,X and 46,XX cells in Turner syndrome can provide valuable information for prenatal genetic counseling.
Amniocentesis ; Chromosomes, Human, X ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Mosaicism ; Pregnancy ; Prenatal Diagnosis

OBJECTIVE: To explore the genetic basis of a child featuring intellectual disability, developmental delay and epilepsy. METHODS: Cytogenetic and molecular analysis including chromosomal karyotyping analysis, single nucleotide polymorphism array (SNP array) and qPCR were performed. RESULTS: The karyotype of the child was determined as 46, XX; SNP array: arr [19]21q22.12q22.13(36 860 195-38 801 482)×1 dn. A heterozygous 1.9 Mb microdeletion was detected at 21q22.12q22.13. qPCR has confirmed deletion of exon 1 of the DYRK1A gene, which has occurred de novo. CONCLUSION A 21q22 deletion was diagnosed with multiple genetic methods. Genotype-phenotype correlation suggested DYRK1A to be a candidate for intellectual disability.
Child ; Developmental Disabilities ; genetics ; Epilepsy ; genetics ; Genetic Association Studies ; Humans ; Intellectual Disability ; genetics ; Karyotyping ; Protein-Serine-Threonine Kinases ; genetics ; Protein-Tyrosine Kinases ; genetics ; Sequence Deletion

OBJECTIVE: To explore the genetic etiology of a pedigree with mental retardation and hypotonia by using chromosome microarray analysis (CMA), low coverage massive parallel copy number variation sequencing (CNV-seq) and quantitative PCR (qPCR). METHODS: Genomic DNA was extracted from peripheral blood samples from two male patients and healthy members from the pedigree. CNV-seq was carried out for one patient. Suspected CNV was verified by qPCR. CNV-seq or single nucleotide polymorphism array (SNP array) were carried out for another patient and his family members. RESULTS: Both patients showed severe hypotonia and global development delay, in particular language delay. CNV-seq and SNP array indicated that both patients had carried a Xq28 duplication, with spanned 0.26 Mb and 0.42 Mb, respectively. Both duplications encompassed the MECP2 gene. CNV-seq analysis of their family members confirmed that the mother and one sister had carried similar duplications, while an elder brother was normal. CONCLUSION CNV-seq and CMA are rapid and effective tools for the diagnosis of MECP2 duplication syndrome in children with mental retardation, hypotonia and recurrent infections.

OBJECTIVE: To carry out prenatal diagnosis for a fetus with high risk predicted by non-invasive prenatal testing (NIPT). METHODS: Next-generation sequencing (NGS) was used to analyze free fetal DNA (ffDNA) in the maternal plasma. Chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) were used to ascertain copy number variation in the fetus and its parents. RESULTS: SNP-array analysis and chromosomal karyotyping revealed that the fetus had a 15.018 Mb duplication at 4q34.1q35.2 and a 7.678 Mb duplication at 21q11.2q21.1, which were derived from a t(4;21)(q34.1;q21.1) translocation carried by its mother. CONCLUSION NIPT is capable of detecting submicroscopic chromosomal abnormalities of the fetus. Combined use of genetic techniques, in particular SNP-array, is crucial for the diagnosis of partial trisomy 21q in this case.