OBJECTIVE: To investigate the mutation characteristics of common deafness gene from 127 non-syndromic hearing loss patients in Guangxi province. METHOD: Deafness-related gene mutations detection kit was used to detect 15 mutation sites in four deafness-associated genes, and a total of 127 hearing impaired patients were tested. The samples that could not be diagnosed with DNA microarray were subjected to PCR and sequenced to detect other mutations. RESULT Among the 127 patients with non-syndromic deafness, the total mutation rate is 8.66% (11/127), including GJB2 235delC homozygous in 3 cases (2.36%), 235delC single heterozygous mutation in 2 cases (1.57%), GJB2 235delC and 109 A > G mutations in 2 cases (1.57%); SLC26A4 1229C > T homozygous in 1 case (0.79%), IVS7-2A > G, IVS11 + 47T > C and 15448insC mutaion in 2 cases (1.57%); mitochondrial 12S rRNA gene mutations were not detected. The result indicates that GJB2 and SLC26A4 were the main genes in this study, and the mutation rate is significantly lower than the national average level. Three new mutations (SLC26A4 IVS11 + 47T > C,1548insC and GJB2 109A > G) were found. There may be rare mutations among sites or genes associated with deafness in Guangxi.
China ; Connexin 26 ; Connexins ; genetics ; DNA Mutational Analysis ; Deafness ; genetics ; Heterozygote ; Homozygote ; Humans ; Membrane Transport Proteins ; genetics ; Mutation ; Oligonucleotide Array Sequence Analysis ; Polymerase Chain Reaction ; RNA, Ribosomal ; genetics ; Sulfate Transporters

Objective To investigate the characteristics of common deafness genes mutation from 222 sensori-neural hearing loss patients in Guangxi province.Methods A deafness-related gene mutations detection kit was used to detect 15 mutation sites in four deafness-associated genes.A total of 222 hearing impaired patients,who were selected from January 2015 to April 2016,were tested.The samples that could not be diagnosed with DNA mi-croarray were subjected to PCR and sequenced to detect other mutations.Results Among the 222 patients with sen-sorineural deafness,the total mutation rate was 10.36% (23/222),including GJB2 235delC homozygous in 3 cases (1.35%),235delC single heterozygous mutation in 8 cases (3.60%),35delG single heterozygous mutation in 2 cases (0.90%),GJB2 235delC and 109 A>G mutations in 2 cases (0.90%),SLC26A4 1229C>T homozygous in 2 case (0.90%),IVS7-2 A>G heterozygous mutation in 2 cases (0.90%);IVS7-2A>G,IVS11+47T>C and 1548 insC mutations in 2 cases (0.90%);GJB3 538C>T heterozygous mutation in 1 cases (0.45%);Mitochondrial 12S rRNA gene heterogeneous mutations in 1 case (0.45%).One of them carry both two mutations:GJB2 235 del C and SLC26A4 1226 G>A.Conclusion The results indicate that GJB2 and SLC26A4 were the main genes in this study,and in Guangxi province the mutation rate is significantly lower than the national average level.3 new muta-tions (SLC26A4 IVS11+47T ! C,1548insC and GJB2 109A>G)were found.There may be some rare mutations among sites or genes caused deafness in Guangxi.

Purpose:To summarize our experience in related donor renal transplantation. Methods:Analyzedand reviewed the clinical date of 7 cases related donor renal transplantation in our center. Results:All 7 patientsrecovered smoothly from the operation. 1 of 7 had rejection. 6 of 7 had their transplanted kidney funtioned well,and 1 case died of liver function failuer. Conclusions:The advantage of related transplantation was less rejectionoccoured and much longer graft survive time obtained. But a care operation in the harvesting of donor graft wasneeded.

OBJECTIVETo study the effect of flavonoids from seed residues of Hippophae rhamnoides (FH) on the lipid metabolism and antioxidative activity in climacteric rats.

METHODMenopausal rats with aging were used in this experiment. The rats were fed with FH by gastrogavage for 13 weeks. The effect of drug on the lipid metabolism and the antioxidative activity were observed after the rats were killed.

RESULTSerum total cholesterol was decreased significantly in rats fed with FH, T-AOC and SOD in serum and liver were significantly higher than those in rats fed with water, and at the same time MDA was lower than that in rats fed with water.

CONCLUSIONFH can improve the climacteric rats' lipid metabolism, and enhance the antioxidation in climacteric rats.

Animals ; Antioxidants ; pharmacology ; Cholesterol ; blood ; Climacteric ; blood ; Female ; Flavonoids ; isolation & purification ; pharmacology ; Hippophae ; chemistry ; Lipid Metabolism ; drug effects ; Liver ; metabolism ; Malondialdehyde ; blood ; metabolism ; Plants, Medicinal ; chemistry ; Random Allocation ; Rats ; Rats, Sprague-Dawley ; Seeds ; chemistry ; Superoxide Dismutase ; blood ; metabolism ; Triglycerides ; blood

Alcoholism ; physiopathology ; Animals ; Dose-Response Relationship, Drug ; Evoked Potentials, Auditory ; drug effects ; Female ; Fetus ; drug effects ; Pregnancy ; Rats ; Rats, Sprague-Dawley

OBJECTIVETo evaluate the effects of arthroscopic debridement for acute gouty arthritis of the ankle.

METHODSForty-one patients with acute gouty arthritis of the ankle were treated under arthroscopy from January 2010 to June 2012. All the patients were male, age in ranging from 28 to 69 years with an average of 43 years. Eighteen patients were in the left ankles and 23 in the right ankles; 12 cases were firstly attack and 29 cases were recurrent attack. Course of disease was from 2 weeks to 30 months. The American Orthopedic Foot and Ankle Society (AOFAS) Ankle-Hindfoot Scale score was used to evaluate the clinical effects. Number of acute attacks of gouty arthritis were observed.

RESULTSAll the patients were followed up at least 12 months. The mean AOFAS Ankle-Hindfoot Scale score increased from 58.44 +/- 9.45 preoperatively to 86.15 +/- 7.36, 83.41 +/- 9.22, 84.10 +/- 8.22 postoperatively at 6, 12, months and the last follow-up respectively. Swelling of the ankle were improved significantly, pain was relieved and the mean number of acute attacks of gouty arthritis decreased significantly.

CONCLUSIONArthroscopy is helpful for the diagnosis of acute gouty arthritis of the ankle and improvement of clinical symptoms and ankle function.

Adult ; Aged ; Ankle Joint ; physiopathology ; surgery ; Arthritis, Gouty ; physiopathology ; surgery ; Arthroscopy ; Debridement ; Female ; Humans ; Male ; Middle Aged ; Treatment Outcome

OBJECTIVETo prepare a lymph node-targeted ultrasound/fluorescence bi-functional imaging contrast agents, and observe its effectiveness both on contrast-enhanced ultrasound (CEUS) and vivo near infrared fluorescence (NIR) imaging through animal experiments.

METHODSThe chimeric lymph node-targeted ligand (phosphatidylserine) and near-infrared fluorescent substance were assembled to form bi-functional contrast microbubbles. The morphology and size distribution were detected by optical microscope and Malvern potential tests. Five normal New Zealand white rabbits were subcutaneously injected with the prepared contrast agent in bilateral footpads, and the imaging effectiveness of lymph nodes and lymphatic vessel were observed by CEUS and NIR technique. Then blue dye was subcutaneously injected at the same site, and the rabbits were sacrificed for lymph nodes pathological examination.

RESULTSLipid ultrasound microbubbles,with a mean size of 3-5 Μm in diameter, appeared to be uniform in distribution and regular in configuration. The images of inflow lymphatic vessel and relevant lymph node were quickly showed up after the subcutaneous injection by CEUS, which was identical to the result detected by NIR. Biopsy confirmed that all the blue-stained lymph nodes could be displayed by NIR.

CONCLUSIONSThe self-made bi-functional contrast agent has a good imaging ability in CEUS and NIR imaging. It may be a better agent as lymph node tracer.

Animals ; Contrast Media ; chemistry ; Fluoresceins ; chemistry ; Lymph Nodes ; anatomy & histology ; diagnostic imaging ; Lymphatic Metastasis ; pathology ; Male ; Rabbits ; Ultrasonography

Electroencephalography ; Female ; Humans ; Infant ; Male ; Spasms, Infantile ; physiopathology

OBJECTIVETo evaluate therapy effect of radiofrequency in the treatment of painful heel syndrome under arthroscopy.

METHODSFrom January 2006 to December 2011, 13 patients with painful heel syndrome being admitted into our hospital were studied. There were 5 males and 8 femals, ranging in age from 35 to 68 years. All these surgeries were performed under local anesthesia. After constructing a man-made lacouna in the subcutaneous tissue above plantar fascia, a medial and a lateral portal were established on both sides of plantar fascia and at the anterior edge of calcaneal tuberosity. Hyperplasia and torn fiber tissue of plantar fascia, and plantar calcaneal bursa were removed with radiofrequency probe under arthroscopy. Then penetration of the plantar fascia was carried out in a reticulation-shaped pattern with a special radiofrequency probe TOPAZ. Each patient was assessed with VAS pain evaluation criteria and AOFAS ankle-hindfoot score system (AOFAS-AH) before and after operation. All the patients were followed up, and the duration ranged from 6 to 12 months.

RESULTSAll the 13 patients got excellent recovery with their heel pain relieved significantly. VAS score was 8.71 +/- 1.64 before operation, 6.27 +/- 2.53 at the 1st month after operation, and 2.30 +/- 2.69 at the 6th month after operation. AOFAS-AH score was 56.43 +/- 3.72 preoperation, 68.15 +/- 7.38 at 1st month post operation, and 84.51 +/- 2.93 at 6th month after operation. There were no perioperative and postoperative complications related to the procedure, such as blood vessel and nerve injury, and infection.

CONCLUSIONPlantar fasciitis and plantar calcaneal bursitis are main factors of painful heel syndrome. Due to advantages of being easy to operate, having definite effect and no use to do spur removal or plantar fasciotomy. Endoscopy assisted plantar calcaneal bursa removal and plantar fascia penetration by radiofrequency technique can be a satisfactory treatment method for painful heel syndrome.

Adult ; Aged ; Arthroscopy ; methods ; Bursa, Synovial ; pathology ; surgery ; Bursitis ; pathology ; surgery ; Female ; Foot Diseases ; surgery ; Heel ; pathology ; surgery ; Humans ; Male ; Metatarsalgia ; pathology ; surgery ; Middle Aged ; Radio Waves

Castleman's disease is a slowly progressive and rare lymphoproliferative disorder. Here, we report a 55-year-old woman with superior mediastinal Castleman's disease being misdiagnosed for a long term. We found a 4.3 cm mass localized in the superior mediastinum accompanied with severe clinical symptoms. The patient underwent an exploratory laparotomy, but the mass failed to be totally excised. Pathologic examination revealed a mediastinal mass of Castleman's disease. After radiotherapy of 30 Gy by 15 fractions, the patient no longer presented previous symptoms. At 3 months after radiotherapy of 60 Gy by 30 fractions, Computed tomography of the chest showed significantly smaller mass, indicating partial remission. Upon a 10-month follow-up, the patient was alive and free of symptoms.
Antigens, CD20 ; metabolism ; Castleman Disease ; diagnosis ; immunology ; pathology ; radiotherapy ; surgery ; Female ; Follow-Up Studies ; Humans ; Mediastinal Diseases ; diagnosis ; immunology ; pathology ; radiotherapy ; surgery ; Mediastinum ; diagnostic imaging ; pathology ; Middle Aged ; Multimodal Imaging ; Positron-Emission Tomography ; Radiotherapy, Intensity-Modulated ; Tomography, X-Ray Computed