ABSTRACT
<p><b>OBJECTIVE</b>To analyze the clinical phenotype of a Chinese pedigree affected with Papillon-Lefevre syndrome(PLS) and detect mutation of CTSC gene.</p><p><b>METHODS</b>Clinical phenotypes were noted, and oral examination for the proband was carried out for the clinical diagnosis of PLS. PCR and Sanger sequencing were used to identify potential mutation of the CTSC gene. Functional effect of the mutation was predicted with SIFT and PolyPhen-2. Swiss-Port was used to predict the tertiary structure of wild type and mutant proteins. The mRNA and protein expression were analyzed by real-time PCR and Western blotting.</p><p><b>RESULTS</b>A homozygous mutation c.901G>A (p.G301S) in exon 7 of CTSC gene was identified in the patient. Both parents of the patient had carried a heterozygous c.901G>A mutation. The mutation was located in the conserved region of CTSC enzyme and was predicted to be damaging by changing the structure of the protein, which could affect the activity of Cathepsin C. However, no significant difference was found in the expression of p.G301S variant at the mRNA and protein levels compared with that of the wild type CTSC gene.</p><p><b>CONCLUSION</b>The c.901G>A mutation of the CTSC gene was first reported in China, which has expanded its mutation spectrum.</p>
Subject(s)
Adult , Child, Preschool , Female , Humans , Male , Asian People , Genetics , Base Sequence , Cathepsin C , Genetics , China , Exons , Molecular Sequence Data , Mutation , Papillon-Lefevre Disease , Genetics , PedigreeABSTRACT
Objective To study the influence of different intensities of treadmill exercise training on bone biomechanical properties and the bone healing in type 2 diabetic model rats.Methods Fifty-two healthy 8-month-old male Sprague-Dawley rats were randomly divided into a control group (n =10) and a type 2 diabetic model group (n =42).Type 2 diabetes was modeled in rats of the model group by feeding feedstuff containing high glucose,fat and energy food for 4weeks,followed by a single intra-abdominal injection of streptozotocin.Thirty model rats were then randomized into 3 subgroups:type 2 diabetes group,a mild exercise group and a moderate exercise group.Different intensities of treadmill training protocols was administered accordingly for 8 weeks.The biomechanical indices of the femur bone including maximum load and stress,module and energy was measured with mechanical testing instrument.Results Compared with the control group,both maximum load and energy were decreased significantly in type2 diabetes group [(148.5±17.8)N vs (192.3±43.4)N] for maximum load,and (51.38 ±13.7)mJ vs (82.0 ± 30.8) mJ for maximum stress] (P ＜ 0.05,P ＜ 0.01).Compared with the type 2 diabetes group,maximum load and stress were increased significantly in the mild and moderate exercise groups(P ＜ 0.05,P ＜ 0.01).Maximum load and energy were improved more in the moderate exercise group than in the mild exercise group [(184.1 ± 26.6)N vs (165.4±21.5)N for maximum load and (83.59 ±29.96)mJ vs (62.33 ±14.32)mJ for maximum stress] (P ＜ 0.05).Conclusions A significant decrease of the bone biomechanical properties was observed in rats with experimental type 2 diabetes,which could be alleviated by treadmill exercise training.
ABSTRACT
Objective To determine the influence of aerobic exercise on advanced glycation end products (AGEs)in plasma using a rat model of type 2 diabetes,and to provide an experimental basis for explaining the rehabilitative mechanism of aerobic exercise in type 2 diabetes.Methods Fifty-two healthy 8-week-old male SpragueDawley rats were allocated at random into a normal control group(n=10)and a type 2 diabetes model group(n=42).The latter were overfed with a high-sugar,high-fat and high-energy diet for 4 weeks,then 30ms/kg of streptozotocin was injected intraperitoneally to create a model of type 2 diabetes.Thirty diabetic rats were then allocated at random into a diabetes control group,a low intensity exercise group and a moderate intensity exercise group with 10 in each group.The treadmill exercise was administered to the animals in the low and moderate exercise groups accordingly.Results Compared with the normal control group,plasma AGEs increased significantly in the diabetes control and moderate intensity exercise groups.Compared with the diabetes control group,AGEs in the lower intensity exercise group were significantly lower.Compared with the moderate intensity exercise group,plasma AGEs in the low intensity exercise group were somewhat lower,but not significantly.Conclusion Aerobic exercise can reduce plasma AGE levels in rats with a model of type 2 diabetes.The effect is probably related to decreasing excessive blood glncose and the exercise intensity.
ABSTRACT
Objective: To investigate the influence of Swiss ball exercises on clinical efficacy and stability of lumbar vertebra in patients with protrusion of lumber intervertebral disc. Method: Thirty patients with non-acute protrusion of lumber intervertebral disc were divided by gender and clinics orders into control and exercises group. Roland Morris questionaire(RMQ) and visual analogue seale(VAS) were selected as pain assessment. Pain, abdominal and back muscle strength were assessed respectively before treatment, 2 and 4 weeks after Swiss ball exercises. Both Swiss ball exercises and lumbar traction were used in exercises group. Lumbar traction was used in control group. Result: Compared with before treatment, RMQ and VAS scores decreased significantly after 4 weeks in control and exercises groups (P<0.05, P<0.01). Compared with control, RMQ and VAS scores in exercises group decreased significantly after 2 and 4 weeks respectively (P<0.05, P<0.01). Compared with control, abdominal and back muscle strength in exercises group increased significantly after 2 and 4 weeks respectively (P<0.05, P<0.01). Conclusion: The low back pain symptom of patients with protrusion of lumber intervertebral disc decreased significantly and abdominal and back muscle strength increased significantly by beth Swiss ball exercises and lumbar traction. The stability of lumbar vertebra of patients with protrusion of lumber intervertebral disc increased significantly.