Objective To investigate the clinical features and analyze the molecular genetics of a pedigree of limb girdle muscular dystrophy (LGMD).Methods Pedigree analysis and clinical examination were performed in one four-generation family with LGMD.Electrophysiology and muscle biopsy were done in the affected members.With an informed consent, gene mutation, genome screening and linkage analysis were conducted in 26 members of this pedigree.Results Seven patients were identified.Pedigree analysis was consistent with autosomal dominant inheritance.Affected members had early presentation.Main features included proximal muscle weakness without dysarthria nor spasticity; electrophysiology and muscle biopsy revealed myopathic changes.LGMD1 A, 1B, 1C and facioscapulohumeral dystrophy genes were not detected by gene mutation analysis.Genome screening and linkage analysis did not reveal any linkage with the disease-causing gene and the reported loci of LGMD1D and LGMD1F genes.Conclusions The clinical manifestations of this LGMD family are highly heterogeneous, and the disease-causing gene of this family is not linked to any of the reported sites, suggesting this may be a new disease-causing locus, or a new genetic type of LGMD.

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.

Objective To analyze the effect and safety of interventional therapy by trans uterine artery for treatment of tubal pregnancy. Methods Forty-two patients with tubal pregnancy were performed two side uterine arteries. MTX perfusion and embolization with gelfoam particles guided by DSA fluoroscopy. Results Forty patients obtained the decline of serum β-HCG value and 39 patients' ectopic mass absorption after treatment. Two patients occurred ectopic mass bleeding after interventional therapy and emergency surgical operation were done, but the amount of bleeding was low than 400ml. Conclusion Interventional therapy by trans uterine artery for treatment of tubal pregnancy could preserve the function of fallopian tubal, it was more benefit for patients who want normal pregnancy.

AIM: To select the prescription of harmine hydrochloride cream and to study the anti-itching effect of harmine hydrochloride cream. METHODS: A comprehensive score system,including appearance,homogeneity,coating performance,viscosity,particle diameter,temperature-resistant test,and centrifugal effect were established as evaluative criteria. Then uniform design was used for selecting the prescription of harmine hydrochloride cream. The histamine phosphate and 5-hydroxytryptamine (5-HT) were used to induce mouse cutaneous pruritus. Then the anti-pruritic effect of harmine hydrochloride cream in contrast to Piyanping Ointment as control group. RESULTS: The optimized prescription was as follows: 8% of monostearin,5% of Vaseline,6. 1% of beeswax, 1. 1% of Span-60,1. 9% of Tween-80. The local application of harmine hydrochloride cream could alleviate the itching induced by histamine phosphate and 5-HT,respectively. And the anti-pruritic effect of harmine hydrochloride cream was stronger than the effect of the positive control group. CONCLUSION: The prescription of the harmine hydrochloride cream is available,reasonable,and reproducible. The harmine hydrochloride cream has the anti-pruritic effect.

ObjectiveTo explore the clinical effect of transcatheter hepatic arterial chemoembolization and systemic chemotherapy on colorectal cancer with hepatic metastasis.Methods50 cases of colon cancer with hepatic metastasis according to treatment methods were divided into A,B group.A group treated by TACE plus intravenous chemotherapy,B group treated by intravenous chemotherapy alone.Side effects,changes in liver tumor size and survival rate were observed.ResultsThe incidence of side effects of two groups had no significant difference ( P ＞ 0.05 ).A group of liver lesions smaller in size or stable is more than in group B( P ＜0.05 ).A group of 1 year,3 years survival rate is 84％and 64％respectively,which is higher than B group 56％and 36％ ( all P ＜ 0.05 ).ConclusionTranscatheter hepatic arterial chemoembolization and systemic chemotherapy is a safe and effective treatment of colon cancer with hepatic metastasis,it can obviously raise the survival rate.

This study aims to investigate whether a self-made novel pulsatile drug delivery system--razine phosphate pulsincap capsule-will achieve a pulsatile drug release in vivo and to study the drug release sites. A gamma scintigraphic study was conducted to assess the in vivo transit and release behavior of the pulsincap capsule with a drug tablet containing 99mTc-labeled diethylenetriamine pentaacetic acid (DTPA) in the gastrointestinal (GI) tract of dog. The results revealed that after a time interval (lag time), the drug tablet began to disintegrate and then released at the pylorus of stomach or in the small intestine of dogs with a relatively rapid release rate, which was consistent with the expected pulsed release pattern. The in vivo lag time of the pulsincap capsule in dog was shortened with the decrease of erodible plugs(EP) weight. Thus we can achieve a desirable lag time to meet the chronotherapeutic requirements by adjusting the weight of EP.
Animals ; Capsules ; Delayed-Action Preparations ; Dogs ; Gastrointestinal Tract ; metabolism ; Gastrointestinal Transit ; Pyrazines ; administration & dosage ; pharmacokinetics ; Radionuclide Imaging

Objective To investigate the feasibility and short-term efficacy of endplate reduction percutaneous pedicle screw (ERPPS) technique combined with short-segment percutaneous pedicle screw fixation for the treatment of AO type A3 thoracolumbar fractures.Methods A retrospective case control study was conducted to analyze the clinical data of 36 patients with type A3 thoracolumbar fractures without neurological symptoms and with comminuted endplates admitted to 903 Hospital of PLA from December 2015 to January 2018.Fifteen patients (Group A) were treated with ERPPS technique combined with short-segment percutaneous pedicle screw fixation,including 11 males and four females,aged (37.9 ±8.3)years.The injured segments were at T11 in 1 patient,T12 in 3,L1 in 6,L2 in 3 and L3 in 2.Simple short-segment percutaneous pedicle screw reduction and internal fixation was performed in 21 patients (Group B),including 14 males and seven females,aged (37.3 ± 9.5)years.The injured segments were at T~ in two patients,T12 in six,L1 in seven,L2 in four and L3 in two patients.The operation time,intraoperative bleeding and complications were recorded.The anterior vertebral body height ratioin (AVBHr),middle vertebral body height ratio (MVBHr),posterior vertebral body height ratio (PVBHr),Cobb angle of kyphosis and wedge angle of injured vertebrae were calculated based on the measurement by X-ray films taken before operation,during operation (after regular reduction),3 days after operation and 6 months after operation.Visual analogue scale (VAS) and Oswestry dysfunction index (ODI) were used to assess the pain and functional improvement.Results All patients were followed up for 11-30 months [(19.1 ± 5.0) months].The operation time was (62.8 ± 4.4)minutes in Group A and (60.1 ± 4.7)minutes in Group B (P ＞ 0.05).The intraoperative blood loss was (48.5 ± 5.1) ml in Group A and (48.0 ± 4.9) ml in Group B (P ＞ 0.05).All the incisions were healed by first intention without complications.The MVBHr of injured vertebra was (84.8 ± 4.4) ％ in Group A and (68.1 ±8.8)％ in Group B (P＜0.05).The MVBHr 6 months after operation was (81.3 ±4.9)％in Group A,significantly better than that in Group B [(63.6 ± 8.1) ％] (P ＜ 0.05).At 6 months after surgery,the kyphosis Cobb angle [(11.3 ± 3.2) °],the wedge angle [(10.5 ± 2.1) °] of the injured vertebra and the VAS [(1.1 ± 0.7) points] of Group A were significantly better than those of Group B [(13.4±2.3)°,(12.1 ±2.2) °and (1.9±1.1)points] (P＜0.05).There were no significant differences in AVBHr,PVBHr and ODI between the two groups (P ＞ 0.05).Conclusion For type A3 thoracolumbar fractures with endplate comminuted injury and without neurological symptoms,the ERPPS technique can effectively reduce the collapse of the central part of the upper endplate and improve the clinical results (less reduction loss and back pain) after short-segment percutaneous pedicle screw reduction and internal fixation under the premise of strict indications.

Wet age-related macular degeneration (AMD),which is the leading cause of visual impairment in elderly people,significantly affects quality of life of millions worldwide.Currently,anti-VEGF is the first-line therapy for wAMD,bringing encouraging results in improving the vision.However,not all of the patients will response to this therapy,moreover,anti-VEGF may be associated with several issues,such as multiple injections,systemic adverse effects,delay or lack of response.With a deep understanding of the mechanism of wAMD,there are rapid developments of new approaches to more effective therapy.Ophthalmologists should pay attention to the advantages and disadvantages of these anti-VEGF drugs as well as the current advances of anti-VEGF drugs in order to provide better treating strategies for wAMD patients better.

OBJECTIVETo examine the main effect of 10 Peroxisome proliferators-activated receptor (PPAR) SNP in contribution to non-HDL-C and study whether there is an interaction in the 10 SNPs.

METHODSParticipants were recruited within the framework of the PMMJS (Prevention of Multiple Metabolic Disorders and Metabolic Syndrome in Jiangsu province) cohort-population-survey, which was initiated from April 1999 to June 2004, and 5-year follow-up data from total 4 582 subjects were obtained between March 2006 and October 2007. A total of 4 083 participants received follow-up examination. After excluding subjects who had experienced stroke or exhibited cardiovascular disease, type 2 diabetes or a BMI <18.5 kg/m(2), a total of 820 unrelated individual subjects were selected from 3 731 subjects on October of 2009. Blood samples which were collected at the baseline were subjected to PPARα, PPARδ and PPARγ 10 SNPs genotype analysis. Logistic regression model was used to examine the association between 10 SNPs in the PPARs and non-HDL-C. Interactions within the 10 SNP were explored by using the Generalized Multifactor Dimensionality Reduction (GMDR).

RESULTSA total of 820 participants (mean age was 50.05±9.41) were included in the study and 270 were males and 550 were females. Single-locus analysis showed that after adjusting gender, age, smoking, alcohol consumption, physical activity, high-fat diet and low-fiber diet factors, rs1800206-V and rs3856806-T were significantly associated with higher non-HDL-C levels. V allele (LV + VV genotype) carriers of rs1800206 have a average non-HDL-C levels on (3.15 ± 0.89)mg/L (F = 15.01, P = 0.002); T allele (CT+TT genotype) carriers of rs3856806 have a average non-HDL-C levels on (3.03±1.01) mg/L (F = 9.87, P = 0.005). GMDR model analysis showed that after adjusting the same factors, two-locus model, five-locus model, six-locus model and seven-order interaction models were all statistically significant (P<0.05), and the seven-locus model (rs1800206, rs3856806, rs135539, rs4253778, rs2016520, rs1805192, rs709158) was the best model (P = 0.001), the cross-validation consistency was 10/10 and testing accuracy was 0.656.

CONCLUSIONRs1800206 and rs3856806 were significantly associated with non-HDL-C. And there was an gene-gene interaction among rs1800206, rs3856806, rs1800206, rs135539, rs4253778, rs2016520, rs1805192, rs3856806 and rs709158 which could influence the non-HDL-C levels.

Alleles ; Cardiovascular Diseases ; Cholesterol ; Diabetes Mellitus, Type 2 ; Female ; Genetic Phenomena ; Genotype ; Humans ; Logistic Models ; Male ; Middle Aged ; Overweight ; PPAR alpha ; PPAR delta ; PPAR gamma ; Peroxisome Proliferator-Activated Receptors ; Polymorphism, Single Nucleotide ; Stroke