Objective To investigate the clinical presentation,laboratory features,imaging findings and CYP27A1 gene mutations of cerebrotendinous xanthomatosis (CTX) for improving the recognition and the early diagnosis and treatment of the disease.Methods Medical records and 8 months follow-up data of one patient who had been clinical diagnosed as CTX were collected and the pedigree and gene mutation analysis of the patient were carried out.Meanwhile,the clinical characters of CTX were analyzed according to the data from our patient and the review of the literature. Results Patient was a 36 years old male manifested with mental retardation, bilateral corticospinal tract and corticonuclear tract impairment,cerebellar lesions and peripheral neuropathy; head MRI indicated symmetric abnormal signals of bilateral basal ganglia,cerebellar dentate nucleus softening and calcification lesions; Achilles tendon MRI indicated markedly thickened Achilles tendon; gene mutation analysis showed sterol-27-hydroxylase gene( CPY27A1 )C→T homozygous mutation in 1016 nucleotide of exon 5.Ursodesoxycholic acid was given as treatment.In 8 months of follow up,for the first 6 months,the patient took medicine regularly and the illness condition was stable.But for the nearly 2 months,the patient voluntarily stopped medicine and the illness condition was worse.Conclusions CPY27A1 gene C→T homozygous mutation in 1016 nucleotide of exon 5 leads to CTX in the patient, which conforms to the characteristic of autosomal recessive disorder. CTX has some characteristic clinical manifestations,such as Achilles tendon thickening,intelligent declining and so on.But lack of specificity of early radiographic examination makes CTX easy to be delayed diagnosis and treatment.CYP27A1 gene mutation analysis has an important significance for early diagnosis of CTX,which should be paid more attention,while the early application of chenodeoxycholicacid treatment can delay the progression of the disease.

Animals ; Biological Specimen Banks ; utilization ; Humans ; Specimen Handling ; methods ; Tissue Fixation ; methods

?AlM: To evaluate the clinical effects of excimer laser phototherapeutic keratectomy ( PTK) assisted by anterior segment optical coherence tomography ( OCT ) in the treatment of corneal anterior diseases.
?METHODS:There were 28 eyes of 15 patients who were diagnosed as corneal anterior diseases, on which excimer laser phototherapeutic keratectomy was performed from September 2012 to September 2013. The patients were checked up by anterior segment OCT before operation forauxiliarily judging types and depths of the disease to direct setting parameters such as cutting depths and diameters etc. in PTK. Follow-up of 6mo were included in this study. They were observed cornea condition, uncorrected visual acuity, spherical equivalent and haze at 6, 15d, and 1, 2, 3 and 6mo post-operatively.
?RESULTS: At postoperation, corneal condition of all patients were impoved more or less, that is, the outbreak was under control, or seizure frequency decreased obviously. There were no statistic differences between preoperation and postoperation on the changes of uncorrected visual acuity, spherical equivalent and haze (P>0. 05).
? CONCLUSlON: ln patients with corneal anterior diseases, excimer laser phototherapeutic keratectomy assisted by anterior segment OCT in the treatment of corneal anterior diseases can get rid of the lesion effectively and accurately and receive better treatment effect. But it is necessary to control the cutting depth avoiding postoperative hyperopia.

Objective To explore the change characteristics of physiological indexes between infants and children during living-donor liver transplantation and discuss methods of regulation and control.Method In this study,42 patients were selected and assigned into two groups according to age:infants group (＜1 year,n =25),and children group (1-16 years,n =17).The preoperative and peri-operative characteristics,intra-operative operation conditions,internal environment changes before and after re-perfusion,postoperative mechanical ventilation time,ICU time,hospital time,infection rate,additional surgery,complications and survival were analyzed.Result PELD (MELD) score,historical surgery rate and hematokrit were lower in children group than in infants group (P＜ 0.05).Serum creatinine and lactate concentrations increased significantly in children group as compared with infants group (P＜0.05).Intra-operative an-hepatic phase and cold ischemia time were shortened significantly (P ＜ 0.05),and incidence rate of re-perfusion syndrome was reduced in children group as compared with infants group (P＜0.05).As compared with pre-re-perfusion,blood lactate concentrations were significantly raised only in infants group and glucose concentrations significantly raised only in children group (P＜0.05).The blood levels of K + were decreased after reperfusion in both two groups,and those in infants group were lower than in children group (P＜ 0.05).Postoperative intensive care unit time was longer in children group than in infants group (P＜ 0.05),and there was no significant difference in survival rate between two groups.Conclusion There are many differences and change characteristics to physiological indexes between infants and children during the operation of living-donor liver transplantation.Timely management and regulation are critical for the success of surgery according to the differences.

Anion Exchange Protein 1, Erythrocyte ; metabolism ; CD56 Antigen ; metabolism ; Desmin ; metabolism ; Desmoplastic Small Round Cell Tumor ; metabolism ; pathology ; surgery ; Diagnosis, Differential ; Humans ; Lymphoma ; metabolism ; pathology ; Male ; Middle Aged ; Rhabdomyosarcoma ; metabolism ; pathology ; Sarcoma, Ewing ; metabolism ; pathology ; Testicular Neoplasms ; metabolism ; pathology ; surgery ; Vimentin ; metabolism

Aged ; Female ; Fibroma ; pathology ; Fibroma, Ossifying ; pathology ; Gingival Neoplasms ; pathology ; Humans

To investigate monoterpenes and sesquiterpenes of the stems and leaves of Clausena excavata, an AcOEt fraction of the methanol extract was subjected on column chromatographies including silica gel and RP-18, as well as preparative HPLC. The structures of compounds isolated were identified on the basis of spectroscopic data as excamonoterpene (1), (6R, 9S)-9, 10-dihydroxy-4-megastigmen-3-one (2), (3R, 6R, 7E) -3-hydroxy-4, 7-megastigmadien-9-one (3), (3S) -3-hydroxy-7, 8-dihydro-beta-ionone (4), (3S, 5R, 6S) -3-hydroxy-5,6-epoxy-beta-ionone (5), (6R, 9R) -9-hydroxy-4-megastigmen-3-one (6), (3S, SR) -dihydroxy-6, 7-megstigmadien-9-one(7), (-)-loliolide(8), caryolane-1, 9alpha-diol(9) and 2, 6-dihydroxyhumula-3 (12), 7 (13), 9(E)-triene (10), were isolated from the stems and leaves of C. excavata. Compound 1 is a new monoterpene, named as excamonoterpene. Compounds 2-10 were isolated from this plant for the first time.
Chromatography, High Pressure Liquid ; methods ; Clausena ; chemistry ; Magnetic Resonance Spectroscopy ; Methanol ; chemistry ; Molecular Structure ; Monoterpenes ; analysis ; chemistry ; Plant Leaves ; chemistry ; Plant Stems ; chemistry ; Sesquiterpenes ; analysis ; chemistry ; Spectrometry, Mass, Electrospray Ionization

Adenomatoid Tumor ; metabolism ; pathology ; surgery ; Adult ; Biomarkers, Tumor ; metabolism ; Female ; Humans ; Hysterectomy ; methods ; Keratins ; metabolism ; Lymphangioma ; pathology ; Uterine Neoplasms ; metabolism ; pathology ; surgery ; Vimentin ; metabolism

A new phenethanol, (2'R)-4-(2', 3'-dihydroxy-3'-methyl-butanoxy)-phenethanol (1), along with other eleven known benzene derivatives (2-12) were isolated from the roots, stems and leaves of Clausena excavata (Rutaceae). Compounds 3 and 4 are new natural products, and compounds 5-8, 10-12 were isolated from C. excavata for the first time. Their structures were elucidated on the basis of MS, 1D and 2D NMR spectroscopic analyses including HSQC, COSY and HMBC experiments. 1 was tested for its cytotoxicities against A549, HeLa and BGC-823 cancer cell lines, and antimicrobial activities against Candida albicans and Staphylococcus aureus. The results showed that 1 did not exhibit cytotoxic and antimicrobial activities.
Benzene Derivatives ; chemistry ; Candida albicans ; drug effects ; Cell Line, Tumor ; Clausena ; chemistry ; HeLa Cells ; Humans ; Magnetic Resonance Spectroscopy ; Molecular Structure ; Plant Leaves ; chemistry ; Plant Roots ; chemistry ; Plant Stems ; chemistry ; Staphylococcus aureus ; drug effects

Objective:To explore the long-term clinical efficacy and complications of modified spinous process splitting laminoplasty using coralline hydroxyapatite (SLAC).Methods:The patients who underwent SLAC surgery in this hospital from 2005.5 to 2011.7 were included retrospectively. The perioperative data were collected and followed up. A total of 165 cases were included. Among them, there were 115 males and 50 females; the average age was 56.5±11.4 years (range: 26-84 years), and the average follow-up period was 136.5±23.2 months (range: 108-182 months). The modified Japanese Orthopedic Association (mJOA) score, the neck disability index (NDI) score were used to evaluate the clinical symptoms of patients, and follow-up imaging to observe the changes in cervical spine curvature and mobility.Results:In terms of functional score: mJOA score increased from 11.4±2.9 before surgery to 15.0±1.8 in the early postoperative period but dropped to 14.0±2.5 at the last follow-up ( F=77.096, P<0.001), and NDI score decreased from 19.2%±14.4% before surgery to 13.0%±15.0% in the early postoperative period, but it rose to 14.0%±14.9% at the last follow-up ( F=6.915, P<0.001). The improvement rate of mJOA was 63.5% (early postoperatively) and 50.8% (last follow-up). Regarding the curvature of the cervical spine, the C 2-C 7 Cobb angle decreased from 14.8°±9.1° before surgery to 11.1°±10.5°, and it was maintained at the last follow-up (11.0°±10.1°) ( F=1.083, P=0.342). The cervical spine range of motion decreased significantly, mainly because the Cobb angle in the flexion position decreased from -19.8°±13.6° before the operation to -3.7°±10.6° at the last follow-up ( P<0.001). Seventy-two patients (44.0%) had complications after operation. Six patients (3.6%) developed neurological symptoms aggravated during follow-up, and their mJOA decreased by more than 3 points. 62 patients (37.6%) developed axial symptoms, of which 7 cases were relieved early (within 6 months post-op), 55 patients had persisted symptom and 17 cases (10.3%) remained painful. C 5 nerve root palsy occurred in 10 cases (6.1%) after the operation, 9 cases resolved within two years and the last patient did not resolve. Conclusion:SLAC surgery can effectively alleviate the patient's neurological symptoms and maintain long-term efficacy and cervical lordosis. The occurrence of persistent axial symptoms and the loss of cervical flexion range are long-term complications after SLAC surgery.