Background Stickler syndrome is a genetic connective tissue disorder that affects the ocular,skeletal,orofacial and auditory systems.To determine the gene mutation loci can offer a basis for genetic diagnosis and management of Stickler syndrome.Objective The aim of this study was to research the clinical characteristics of a pedigree with Stickler syndrome and identify the disease-causing gene mutation.Methods This study was approved by Ethic Committee of Peking Union Medical College Hospital.The clinical study and pedigree analysis were performed in one family with Stickler syndrome type Ⅰ (STL Ⅰ).Nine family members were examined with informed consent.The entire coding regions of COL2A1 gene with flanking intronic regions were amplified by PCR and directly sequenced.The detected sequence change was confirmed to be mutationloci by examining whether they existed in normal control individuals.Mutant proteins were predicted with online software.Results There were 4 generations and 11 members in this family,and 2 members died,including 1 patient.Three patients were found in 9living families.Inheritance of this family complicd with an autosomal dominant inheritance mode.All affected individuals showed the consistent phenotypes with STL Ⅰ,including high myopia,membranous vitreous anomaly and surface central flat,short nose,palatoschisis,etc.Mutation screening of COL2A1 gene revealed that the first base of intron 12 was deleted(IVS12+1G del).Nucleotide sequence analysis showed that this mutation led to the functional abnormal of this gene by forming termination cordon in advance.This mutation occurred in all affected individuals,however,no mutation was observed in any unaffected member or 100 normal unrelated individuals.Conclusions This study identifies a novel splice-site mutation(IVS12+ 1G del)in COL2A1 gene in a Chinese STL Ⅰ pedigree.This is the first report on a mutation in a Chinese STL Ⅰ family.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; DNA Methylation ; DNA-Binding Proteins ; genetics ; Female ; Histone-Lysine N-Methyltransferase ; genetics ; Humans ; Male ; Middle Aged ; Myelodysplastic Syndromes ; genetics ; Nuclear Proteins ; genetics ; Transcription Factors ; genetics ; Young Adult

Objective To investigate the correlation between ultrasonographie classification, age and lesion in female. Methods One thousand two hundred and eight patients with 2416 mammary gland were comfired by pathologic findings, including 132 benign lesion and 54 malignancy lesion. According various sonographic appearances in the mammary gland structure and involution grade, the mammary glonds were classified into glandular,fibroglandular and fatty types. A single mammary gland is statistic unit. Results To follow age growth, the proportion of glandular type was decrease, 61.7% in under 30 years of age,31.5% in 30-39 years of age,15.3% in 40-49 years of age,8.6% in 50-59 years of age,4.5 in over 60 years of age. To follow age growth, the proportion of fatty type was higher, 1.6 % in under 30 years of age, 5.80% in 30-39 years of age,5.5% in 40-49 years of age,10.8% in 50-59 years of age,38.6% in over 60 years of age. Before 60 years of age, to follow age growth, the proportion of fibroglandular type was higher, which achieved the peak value (79.2%) in 40-49 years and last to 50-59 years of age (80.6%) ,but it was decrease to 56.9% after 60 years of age. There was significant difference of the proportion in any age(P=0.000).The proportion of the benign lesion no difference in three categories. The proportion of malignancy lesion (6.23%, 16/257 mammary gland)in fatty type was higher than that in fibroglandular type (2.18%,37/1698 mammary gland) which was significant difference(P=0.000). There was no malignancy lesion in glandular type. Conclusions Significant correlation were present between uhrasonographic classification, age and malignancy lesion, no significant correlation were found between uhrasonographic classification, age and benign lesion.

Objective To prepare novel alkanethiol modified magnetic silver flower nanoparticles as SERS substrate to chloramphenicol for Raman detection and to determine their enhancement effect.Methods An alkanethiol was chosen as a surface modifier of the substrate and was self-assembled onto the magnetic silver flower nanoparticle surface.The chloram-phenicol molecules were enriched to the surface of the substrate by hydrophobic interaction and the effect for detection of chloramphenicol SERS signal was enhanced.Results It was found that the 1-hexanethiol-modified SERS substrate was able to lead to stronger enhancement than 1-dodecanethiol and octadecanethiol.Fe3 O4@SiO2-Ag-C6 was used to detect the chloramphenicol (10 -3 -10 -10 mol/L) and chloramphenicol in milk (10 -3 -10 -9 mol/L) by surface-enhanced Raman spectroscopy.The detection limits were 0.1 nmol/L (32 ppt) and 1 nmol/L (323 ppt) respectively.Conclusion Alkanethiol modified magnetic silver flower nanoparticles are a highly active SERS substrate, which can be used for detection of low concentrations of analytical substances.

Objective To explore the association between acute ischemic stroke and albumin to creatinine ratio (ACR).Methods A case-control study.During January to December in 2013, 127 acute ischemic stroke patients as case group and 150 controls who were similar with case group in age and gender were recruited in Tianjin Union Medicine Center . According to diabetes , hypertension , cardiovascular diseases and patients without these three diseases , case group was divided into A1, B1, C1 and D1 subgroups, control group was divided into A2, B2, C2 and D2 subgroups in the same way.The first morning urine from participants were collected .Urinary albumin concentration was tested by nephelometry , urinary creatinine was examined by using enzymic method , ACR were calculated(≥30 mg/g as the cutoff value). Then difference of ACR between case and control group was compared , the cutoff value of albuminuria for ischemic stroke patients was analyzed by ROC , and the risk factor of ischemic stroke were analyzed by logistic regression analysis.Results The prevalence of albuminuria in ischemic stroke patients was 38.58%(49).According to analysis of covariance, after adjustment for age, gender, cardiac-disease, diabetes, hypertension, lnACR in case group was significantly higher than control group (3.18 mg/g vs 2.78 mg/g, t=2.13 P=0.03), especially D1 was significantly higher than D2 subgroup (3.01 mg/g vs 2.51 mg/g,t=5.56,P=0.009) .If 19.82 mg/g from ROC analysis was used as the cut-off value, the sensitivity and specificity are 68.5% and 61.7%.The odds ratio ( OR ) of ACR >19.82 mg/g was about 2-fold when compared with ACR<19.82 mg/g adjusted for stroke risk factors , and the OR value is 2.43 in comparison of patients without diabetes , hypertension and cardiovascular diseases .Conclusions Urinary albumin excretion is the independent risk factor of ischemic stroke .The increased urinary albumin has important clinical significance to predict the risk of ischemic stroke for the patients without diabetes , hypertension and cardiovascular diseases.

Objective To evaluate the curative effect of comprehensive rehabilitative treatment for lumbar intervertebral disc protrusion by using the MRI tests before and after the treatment. Methods Forty patients with lumbar intervertebral disc protrusion were treated by a comprehensive rehabilitative treatment program composed of physical modalities, medications, traction, massage and medical gymnastics, for 30 days. MRI test were performed with all the patients, and comparison of the MRI manifestations before and after the treatment was conducted to evaluate the therapeutic efficacy. Results The clinical effective rate was 82.5%. There was no significant difference between the MRI manifestations, including MRI signal intensity, thickness and degree of the protrusion, anteroposterior and transverse diameter, width of lateral recess, before and after the treatment. Conclusion The comprehensive rehabilitative treatment program used in this study did not significantly decrease the size of lumbar intervertebral disc protrusion, but did relieve or cure the clinical symptoms of the patients.

The aim of this study was to design a simple, economic, with high Common Mode Rejection Ratio (CMRR), preamplifier and multi-channel masticatory muscle surface electromyography (sEMG) signal acquisition system assisting to diagnose temporomandibular disorders (TMD). We used the USB interface technology in the EMG data with the aid of the windows to operate system and graphical interface. Eight patients with TMD and eight controls were analyzed separately using this system. In this system, we analyzed sEMG by an optional combination of time domain, frequency domain, time-frequency, several spectral analysis, wavelets and other special algorithms under multi-parameter. Multi-channel sEMG System of Masticatory Muscles is a simple, economic system. It has high sensitivity and specificity. The sEMG signals were changed in patients with TMD. The system would pave the way for diagnosis TMD and help us to assess the treatment effect. A novel and objective method is provided for diagnosis and treatment of oral-maxillofacial disease and functional reconstruction.
Algorithms ; Computer Graphics ; Data Collection ; Electromyography ; Humans ; Masticatory Muscles ; physiology ; physiopathology ; Sensitivity and Specificity ; Signal Processing, Computer-Assisted ; Temporomandibular Joint Disorders ; diagnosis ; User-Computer Interface

Objective To study the pharmacokinetics of tamoxifen at a high dosage, which will offer a theoretical support for an appropriate clinical use of the medicine in non-small cell lung cancer (NSCLC) patients. Methods Three qualified NSCLC patients are selected and given tamoxifen (TAM) 160 mg per Os. Blood samples were collected at different times and then analyzed by high-performance liguid chromatography. The PK-GRAPH program was used to obtain the parameters. Results The concentration-time courses of the TAM 160 mg were fitted to one-compartment model. The pharmacokinetic parameters were estimated as follows: Tmax (6.35±1.24)h, Cmax (217.39±7.71)ng/Ml, AUC (12 127.39±636.16)ng·h/Ml and T1/2ke (34.13±2.97)h. Conclusion TAM 160mg one day per Os cannot reach the effective maintenance concentration in vivo required for reversing MDR in vitro. Loading-maintenance dose strategy is recommended to study the pharmacodynamics of tamoxifen at a high dosage in NSCLC patients.

Aged ; Aged, 80 and over ; Blood Platelets ; chemistry ; Humans ; Receptor, PAR-1 ; blood ; Receptors, Thrombin ; blood ; Renal Dialysis ; Uremia ; blood ; therapy

OBJECTIVETo investigate the difference between two methods for establishing rat models of complex regional pain syndrome type 1.

METHODSTwenty-four adult SD rats were randomly allocated into control group, tibia fracture group and ischemia group (n=8), and complex regional pain syndrome type 1 was simulated in the latter two groups using different methods. The pain behaviors of the rats were observed and serum substance P level was detected with ELISA at different time points after the operations.

RESULTSLimb loss occurred in 3 rats in tibia fracture group, and the other 5 rats showed a lowered pain threshold. At 8 h after modeling, the rats in ischemia group showed more obvious reduction of pain threshold than those in tibia fracture group. Serum substance P levels in the two model groups underwent similar alterations after modeling, both significantly higher than that in the control group (P<0.01). Microcirculation changes were more serious in tibia fracture group than in ischemia group. Ulcer-like lesions were found in the skin of some rats in tibia fracture group. No obvious pathologies were observed microscopically in the sciatic nerve in the two model groups.

CONCLUSIONThe two methods can both be effective to simulate complex regional pain syndrome type 1, but tibia fracture results in more sustained symptoms and pathological changes in the microcirculation.

Animals ; Disease Models, Animal ; Foot ; blood supply ; Ischemia ; complications ; Male ; Random Allocation ; Rats ; Rats, Sprague-Dawley ; Reflex Sympathetic Dystrophy ; Tibial Fractures ; complications