BackgroundRetinitis pigmentosa (RP) has the genetic and phenotype heterogeneity.To determine the disease-causing gene is a foundation of gene therapy.Objective This study was to localize the pathogenic gene and screen the gene mutation associated with Han Nationality autosomal dominant retinitis pigmentosa (ADRP) in a Chinese family.MethodsTwenty-one families enrolled this study,including 12 patients with ADRP and 9 individuals with normal phenotype.Perimetry,fundus examination,electrooculogram ( EOG ) and electroretinogram (ERG) were performed in 12 patients.Genetic linkage analysis was performed on the subjects in all known genetic loci related to ADRP with a panel of microsatellite markers.Subsequently,the mutation screening of rhodopsin gene was screened by direct DNA sequencing.This study was approved by Ethic Committee of Zhongnan Hospital of Wuhan University.Informed consent was obtained from each subject.ResultsThe fundus appearance of the proband was in accordance with the ADRP,and the EOG and ERG showed undetectable.Contractive visual field also was exhibited in the proband.Linkage analysis showed that the maximum logarithm of the odds(LOD) score reached 3.6671 at marker D3S1292 at recombination fraction θ =0.0.The results of direct DNA sequencing revealed a C→ G transversion mutation at codon 53 in exon 1 of rhodopsin gene,which resulted in a proline to arginine change (Pro53Arg) in 12 patients.However,no similar mutation was found in the unaffected members of this family.ConclusionsThe missence mutation Pro53Arg in rhodopsin gene cosegregate with the RP disease.It is determined to be a pathogenic factor of this ADRP family.

BACKGROUNDAdrenocorticotrophin (ACTH)-secreting pituitary adenomas account for approximately 7% - 14% of all pituitary adenomas, but its pathogenesis is still enigmatic. This study aimed to explore mechanisms underlying the pathogenesis of ACTH-secreting pituitary adenomas.

METHODSWe used fiber-optic beadarray to examine gene expression in three ACTH-secreting adenomas compared with three normal pituitaries. Four differentially expressed genes from the three ACTH-secreting adenomas and three normal pituitaries were chosen randomly for validation by reverse transcriptase-real time quantitative polymerase chain reaction (RT-qPCR). We then analyzed the differentially expressed gene profile with Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway.

RESULTSFiber-optic beadarray analysis showed that the expression of 28 genes and 8 expressed sequence tags (ESTs) were significantly increased and the expression of 412 genes and 31 ESTs were significantly decreased. Bioinformatic and pathway analysis showed that the genes HIGD1B, EPS8, HPGD, DAPK2, and IGFBP3 and the transforming growth factor (TGF)-β signaling pathway and extracellular matrix (ECM)-receptor interaction pathway may play important roles in tumorigenesis and progression of ACTH-secreting pituitary adenomas.

CONCLUSIONSOur data suggest that numerous aberrantly expressed genes and several pathways are involved in the pathogenesis of ACTH-secreting pituitary adenomas. Fiber-optic beadarray combined with pathway analysis of differential gene expression appears to be a valid method of investigating tumour pathogenesis.

ACTH-Secreting Pituitary Adenoma ; etiology ; genetics ; Adenoma ; etiology ; genetics ; Adult ; Disease Progression ; Expressed Sequence Tags ; Extracellular Matrix Proteins ; physiology ; Female ; Fiber Optic Technology ; Gene Expression Profiling ; Humans ; Male ; Middle Aged ; Oligonucleotide Array Sequence Analysis ; methods ; Real-Time Polymerase Chain Reaction ; Reverse Transcriptase Polymerase Chain Reaction ; Signal Transduction ; physiology ; Transforming Growth Factor alpha ; physiology

0.05).But GR number[sites/cell]and the expression of GR mRNA in PBMCs from PM/DM was significantly lower than those in healthy controls(P

A method for residual determination of 5 pyrethroid pesticides in Anoectochilus roxburghii by cloud point extraction-back extraction-GC-MS was established. PEG 6000 was used as extraction agent and isooctane was used for back-extractant. The con- tent was calculated by external standard method. The linear range was from 15 to 2 000 μg x kg(-1) with the good correlation coefficients (0.955-0.999). The recoveries at spiked concentrations of 50-500 μg x kg(-1) ranged from 85.12% to 101.6%. The limit of detection and quantification of 5 pyrethroid pesticides were in the range of 0.63-3.10 μg x kg(-1) and 2.10-10.31 μg x kg(-1), respectively. The proposed method can be applied to the determination of pyrethroid pesticides residues in A. roxburghii.
Chemical Fractionation ; methods ; Gas Chromatography-Mass Spectrometry ; methods ; Orchidaceae ; chemistry ; Pesticide Residues ; analysis ; chemistry ; isolation & purification ; Pyrethrins ; analysis ; chemistry ; isolation & purification

OBJECTIVETo analyze the perioperative complications of percutaneous kyphoplasty (PKP) for osteoporotic vertebral compression fracture.

METHODSFrom June 2009 to December 2011, 63 patients with osteoporotic vertebral compression fracture underwent PKP, there were 18 males and 45 females with an average age of 75.3 years ( ranged, 62 to 91). All patients with severe back pain and without neurological symptoms and signs, which were confirmed by X-ray and MRI. Among them,there were 63 cases with severe osteoporosis, 37 cases with hypertension, 10 with coronary artery disease, 29 with anemia, 26 with diabetes, 11 with chronic obstructive pulmonary diseases and 8 with gastritis and peptic ulcer. The common perioperative complications were retropectively reviewed.

RESULTSPreoperative complications occured in 9 cases (14.3%), including hypostatic pneumonia (1 case), electrolyte disturbances (2 cases), urinary tract infection (2 cases), moderate anemia(2 cases),electrolyte disturbances combined with moderate anemia (1 case), hypostatic pneumonia combined with delirium (1 case). Intraoperative and postoperative. complications occurred in 17 cases (26.9%), there were bone cement correlated complications in 9 cases (14.3%), in which 2 cases of toxic reaction of bone cement and 7 cases of leakage (2 cases had clinical symptoms); there were non-bone cement correlated complications in 3 cases (4.8%), in which 1 case of focal hematoma caused by paracentesis, 1 case of transient nerve injury, 1 case of left intercostal neuralgia;there were transient hyperpathia in 5 cases after operation. All complications result in no severe consequence after treatment.

CONCLUSIONPerioperative complications of percutaneous kyphoplasty are not uncommon,however,these complications may not cause serious consequence after active treatment,so prevention and treatment are important for it.

Aged ; Aged, 80 and over ; Female ; Fractures, Compression ; surgery ; Humans ; Intraoperative Complications ; etiology ; Kyphoplasty ; adverse effects ; Male ; Middle Aged ; Osteoporotic Fractures ; surgery ; Postoperative Complications ; etiology ; Retrospective Studies

OBJECTIVETo analyze the complications of percutaneous kyphoplasty except bone leakge for the treatment of osteoporotic thoracolumbar vertebral compression fractures.

METHODSFrom October 2008 to October 2012,178 patients with 224 osteoporotic vertebral compression fractures were treated with percutaneous kyphoplasty under local anethsia. There were 72 males and 106 females,ranging in age from 58 to 92 years old,with an average of 75.3 years,including 93 thoracic vertebrae and 131 lumbar vertebrae. The complications except bone cement leakage were analyzed during operation and after operation.

RESULTSAll operations were successful and all patients were followed up from 12 to 60 months with an average of 26.2 months. No death was found. Bone cement leakage occurred in 27 cases, about 15.1% in 178 cases; and complications except bone cement leakage occurred in 15 cases. There was 1 case with cardiac arrest,was completely recovery by cardiopulmonary resuscitation (CPR) immediately; and 1 case with temporary absence of breathing,was recovery after treatment. There were 3 cases with fall of blood pressure and slower of heart rate; 1 case with intestinal obstruction; 2 cases with local hematoma and 1 case with intercostal neuralgia. Vertebral body fractures of 2 cases were split by bone cement and the fractures of adjacent body occurred in 4 cases.

CONCLUSIONIt's uncommon complication except bone cement leakge in treatment of osteoporotic thoracolumbar vertebral compression fractures with percutaneous kyphoplasty. The complication of cardiopulmonary system is a high risk in surgery; and cytotoxicity of bone cement,nervous reflex,fat embolism and alteration of intravertebral pressure may be main reasons.

Aged ; Aged, 80 and over ; Female ; Fractures, Compression ; surgery ; Humans ; Kyphoplasty ; adverse effects ; Lumbar Vertebrae ; injuries ; surgery ; Male ; Middle Aged ; Osteoporotic Fractures ; surgery ; Postoperative Complications ; etiology ; Spinal Fractures ; surgery ; Thoracic Vertebrae ; injuries ; surgery

OBJECTIVETo retrospectively study medium-term follow-up outcomes of total hip arthroplasty (THA) for patients with ankylosing spondylitis (AS).

METHODSFrom January 2000 to December 2008, 67 patients (88 hip joints) with AS were treated with all ceramic interface THA. And 55 patients (74 hips) were finally followed up. Among them, there were 30 males and 25 females, with an average age of 32.6 (ranged 19 to 58) years old. Sixty-one hips were treated with biological prosthesis and 13 hips were treated with hybrid prosthesis. Fifty-five patients were followed up at least 5 years, with an average of (75.2 +/- 8.6) months. Clinical symptoms and radiography information were evaluated after follow-up.

RESULTSHarris hip score were significantly improved from 30.8 +/- 7.0 preoperatively to 85.2 +/- 5.5 at the last follow-up (P<0.01). The hip movement range increased from (21.2 +/- 8.5) degrees preoperatively to (142.0 +/- 10.2) degrees postoperatively (P<0.01). The 5-year survival of prosthesis was 95.9%. One patient were renovated because of internal wall broken caused by injury, 1 was renovated for infection, 1 was renovated for fracture arround femoral stem prostheses, and 1 was treated with conservative treatment by dislocation. Three cases with abnormal sound were cured with non-operation. 7 cases with heterotopic ossification were not treated, 2 cases with thigh pain received conservative treatment. Bone dissolve around prosthesis, loose and sink of femur and acetabulum prosthesis were occurred in other cases.

CONCLUSIONTHA for the treatment of AS is a reliable method, which has a satisfied medium-term follow-up outcomes.

Adult ; Arthroplasty, Replacement, Hip ; Female ; Follow-Up Studies ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Spondylitis, Ankylosing ; surgery ; Treatment Outcome ; Young Adult

OBJECTIVETo explore the possibility of injury to the striated urethral sphincter by incision to the anterior lobe region in transurethral prostatectomy.

METHODSWe incised the anterior lobe region of 60 patients with benign prostatic hyperplasia (BPH) undergoing transurethral prostatectomy. The patients were divided into four groups according to the incision fields: proximate superficial (group 1), proximate deep (group 2), distal superficial (group 3) and distal deep (group 4). The tissues taken from the anterior lobe region were subjected to HE staining, and the smooth and striated muscles were detected by immunohistochemical identification of smooth muscle actin (SMA) and myoglobin (MYO) in the tissues. The prostate volume, age, and PSA level of the patients were analyzed against their positive or negative results. The relative contents of the striated muscle were compared among groups 2, 3 and 4. The independent-sample between-group t-test was used for statistic analysis.

RESULTSThe urethral rhabdosphincter was found in the anterior lobe region, with the smooth muscle intermixed with the striated muscle. The incision injury of the urethral rhabdosphincter was associated with the prostate volume. Increased urethral rhabdosphincter was observed in the anterior lobe region, approaching the apex of the prostate and extending to the urethral lumen.

CONCLUSIONThe anterior lobe region should not be excessively incised in transurethral prostatectomy so as to avoid direct injury of the striated urethral sphincter, which is especially important for prostates of smaller volume or operation near the apex of the prostate.

Aged ; Histological Techniques ; Humans ; Male ; Prostate ; anatomy & histology ; pathology ; Prostatic Hyperplasia ; pathology ; surgery ; Transurethral Resection of Prostate ; Urethra ; anatomy & histology ; pathology

Acute-Phase Proteins ; metabolism ; Animals ; Female ; Hepatitis, Autoimmune ; immunology ; metabolism ; pathology ; Interleukin-17 ; metabolism ; Lipocalin-2 ; Lipocalins ; metabolism ; Liver ; pathology ; Mice ; Mice, Inbred BALB C ; Oncogene Proteins ; metabolism

OBJECTIVETo investigate and evaluate the effectiveness of neuroendoscopic therapy for arachnoid cysts of middle cranial fossa.

METHODSFrom January 2004 to June 2009, 32 patients with arachnoid cysts of middle cranial fossa who were treated with endoscopic cystocisternal fenestration were retrospectively analyzed. There were 21 male patients and 11 female patients, aged from 6 months to 39 years. The clinical and neuroradiological presentation, indications, surgical technique, complications, and clinical and neuroradiological follow-up were analyzed.

RESULTSThe cysts were reduced in size in 20 patients and completely disappeared in 4 patients. For the 27 patients with symptoms before operation, the symptoms disappeared in 8 cases and improved in 17 cases after operation. There were asymptomatic subdural hydroma in 4 patients, intracranial infection and incision cerebro-spinal fluid leakage in 1 patient respectively. The complication incidence rate was 18.8%.

CONCLUSIONSEndoscopic fenestration is an effective treatment for symptomatic arachnoid cysts of middle cranial fossa and could be performed as the first surgical choice for these patients.

Adolescent ; Adult ; Arachnoid Cysts ; surgery ; Child ; Child, Preschool ; Cranial Fossa, Middle ; Endoscopy ; methods ; Female ; Follow-Up Studies ; Humans ; Infant ; Male ; Retrospective Studies ; Treatment Outcome ; Young Adult