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Objective:To investigate the clinical features and pathogenic genes of a family with osteosclerosis.Methods:Six patients and six family members from a family in Jiangsu were tested for biochemical parameters, bone metabolic markers, bone mineral density, thoracolumbar anterior lateral slices, skull positive lateral radiographs, and pelvic plain films. Meanwhile, Sanger sequencing was performed to detect gene mutations of the proband and five other family members with high bone mass. The conformation of the mutational low-density lipoprotein receptor-related protein 5 (LRP5) protein was predicted by SWISS-MODEL.Results:Four adult patients (one male and three females) were tall, with mandibular enlargement and kyphosis in the center of the lower jaw, and none of the four had fractures. Their X ray examination revealed that the skull and long bone cortex was thickened, while the sella and mandible was enlarged. In addition, the absolute values of bone mineral density at each site of all patients were significantly higher as compared with the standard age- and sex-matched adults or adolescent mean reference values, with Z scores of L2-4, femoral neck and total hip being (6.31±4.03) SD, (6.56±2.36) SD, and (7.19±2.03) SD, respectively. The results of genetic sequencing revealed that all six patients carried a heterozygous mutation (c.331G>T; D111Y) in exon 2 of LRP5 gene, while other family members showed wild type (c.331G>G; D111D). Functional prediction indicated that this mutation was located at the amino acid terminal of exon 2 of LRP5 gene, which encodes the first β-helix-generating region of LRP5 protein.Conclusion:The D111Y mutation in LRP5 gene leads to a clinical phenotype characterized by benign increased bone mineral density without increasing the risk of fracture. This mutation may further affect the downstream Wnt signaling pathway by altering the spatial structure of LRP5 protein, thereby promoting maturation and differentiation of osteoblasts and resulting in osteosclerosis.
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Objective@#To investigate the clinical features and pathogenic genes of a family with osteosclerosis.@*Methods@#Six patients and six family members from a family in Jiangsu were tested for biochemical parameters, bone metabolic markers, bone mineral density, thoracolumbar anterior lateral slices, skull positive lateral radiographs, and pelvic plain films. Meanwhile, Sanger sequencing was performed to detect gene mutations of the proband and five other family members with high bone mass. The conformation of the mutational low-density lipoprotein receptor-related protein 5 (LRP5) protein was predicted by SWISS-MODEL.@*Results@#Four adult patients (one male and three females) were tall, with mandibular enlargement and kyphosis in the center of the lower jaw, and none of the four had fractures. Their X ray examination revealed that the skull and long bone cortex was thickened, while the sella and mandible was enlarged. In addition, the absolute values of bone mineral density at each site of all patients were significantly higher as compared with the standard age- and sex-matched adults or adolescent mean reference values, with Z scores of L2-4, femoral neck and total hip being (6.31±4.03) SD, (6.56±2.36) SD, and (7.19±2.03) SD, respectively. The results of genetic sequencing revealed that all six patients carried a heterozygous mutation (c.331G>T; D111Y) in exon 2 of LRP5 gene, while other family members showed wild type (c.331G>G; D111D). Functional prediction indicated that this mutation was located at the amino acid terminal of exon 2 of LRP5 gene, which encodes the first β-helix-generating region of LRP5 protein.@*Conclusion@#The D111Y mutation in LRP5 gene leads to a clinical phenotype characterized by benign increased bone mineral density without increasing the risk of fracture. This mutation may further affect the downstream Wnt signaling pathway by altering the spatial structure of LRP5 protein, thereby promoting maturation and differentiation of osteoblasts and resulting in osteosclerosis.
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Brown adipose tissue (BAT) increases energy consumption by directly dissipating stored energy in the form of heat through the role of uncoupling protein (UCP1). Recent studies have found that brown adipocytes may also regulate metabolism through autocrine, paracrine, and endocrine mechanisms. A growing body of evidences have shown that the BAT has a close relationship with bone metabolism, in which BAT secretes a variety of factors to regulate bone metabolism, while bone also secretes a variety of bioactive substances to control BAT function. In addition, BAT may indirectly participate in bone metabolism through muscle-mediated regulation or SNS activity and improvement of body metabolism, thus forming a BAT-skeletal axis. In this paper, we try to explain the relationship between brown adipose tissue and bone, and to discuss their interactive mechanisms.
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Objective To investigate the relationships and types between pulmonary subsolid nodules and bronchi and vessels,and their diagnostic values in differentiating subsolid nodules.Methods MSCT images of 40 subsolid nodules were retrospectively reviewed.The relationships between subsolid nodules and bronchi were divided into five types.Type Ⅰ:the bronchi were “cutoff”in the solid part of nodules.Type Ⅱ:the bronchi were distortion and extension in the solid parts of nodules.Type Ⅲ:the bronchi were distortion and extension in the GGO parts of nodules.Type Ⅳ:the bronchi were normal course in the GGO parts of nodules.Type Ⅴ:the bronchi were circumvent nodule lesions.The relationships between subsolid nodules and vessels were categorized into four types.Type Ⅰ:vessels passing by SSNs;Type Ⅱ:intact vessels passing through SSNs;Type Ⅲ:distorted,dilated or tortuous vessels seen within SSNs;Type Ⅳ:more complicated vessels other than described above.The relationship types were correlated to pathologic and/or clinical findings of subsolid nodules.Results Of 40 subsolid nodules,4 were preinvasive nodules,6 micro infiltrating adeocarcinomas and 30 invasive ones that were pathologically proven.Types Ⅰ,Ⅱ,Ⅲ and Ⅳ vascular relationships were observed in 0,8,21 and 11 subsolid nodules,respectively.Type Ⅲ relationship was the dominating one.All 11 subsolid nodules were invasive adenocarcinomas,when the relationship between subsolid nodules and vessle was type Ⅳ.There were 17 invasive adenocarcinomas,2 preinvasive ones,and 2 infiltrating ones when the relationship between subsolid nodules and vessel was type Ⅲ.Correlation analysis showed strong correlation between invasive adenocarcinoma and type Ⅲ and Ⅳ relationships.There was significantly statistical significance among 3 groups of relationships between subsolid nodule and vessels(χ2 =1 5.1 90,P =0.004).Types Ⅰ,Ⅱ,Ⅲ,Ⅳ and V brochi relationships were observed in 20,5,6,9 and 0 subsolid nodules,respectively.Type I relationship was the dominating relationship.There were 1 7 invasive adenocarcinomas, 1 preinvasive one,2 micro invasive ones when the relationship between subsolid nodules and bronchi were typeⅠ.There was significantly statistical significance among 3 groups of relationships between subsolid nodule and bronchi (χ2 =23.81 1,P =0.001 ).Conclusion Different subsolid nodules have different relationships with bronchi and vessels.Understanding and recognizing the characteristic subsolid nodule-bronchi and subsolid nodule-vessel relationships may help to identify which nodules are more likely to be malignant.
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PurposeTo evaluate the effect of tube current on the pseudo-enhancement of renal cyst by simulating the phantom model of simple renal cyst.Materials and Methods 10% glucose and iodine solution with a certain concentration was used to simulate the renal parenchymal background concentration in plain scan, moderate enhancement and maximum enhancement respectively. The diameters of the cysts were 6 mm, 10 mm and 15 mm, respectively, and the cysts were divided into three groups according to different tube current: 119 mAs (group A), 178 mAs (group B) and 297 mAs (group C) while the tube voltage were all 120 kV. Whether pseudo-enhancement exists in cyst under different conditions was determined using an increase of CT value of 10 HU as the critical value. Results In group A, there was pseudo enhancement at the 240 HU background, and it was most significant with the diameter of 6 mm, which was 21 HU. In group B, pseudo-enhancement occurred in cysts with diameter of both 10 mm and 6 mm under the background of 180 HU and 240 HU, moreover, the biggest difference was 20.4 HU and it occurred in cyst with diameter of 6 mm under the background of 240 HU. In group C, pseudo-enhancement only occurred in cyst with diameter of 6 mm under the condition of 125 HU and 240 HU background concentration. Background concentration (F=17.587, P<0.01) and cyst diameter (F=4.214,P<0.05) had greater impact on cyst pseudo-enhancement, the higher the background concentration and smaller the diameter, more significantly the pseudo-enhancement would occur. With the increase of the tube current, the CT volume dose index increased, and the pseudo enhancement value was smaller, but there was no obvious regularity of pseudo-enhancement occurrence rate in cysts with different background concentration and diameter in each group.Conclusion The increase of tube current cannot completely eliminate cyst pseudo-enhancement. High background concentration and small diameter cyst are important factors in pseudo-enhancement. However, increasing the tube current can reduce the probability of occurrence of pseudo-enhancement to some extent. For those with heavier body weight, it might be necessary to increase the tube current to improve image quality and reduce the occurrence of renal cyst pseudo-enhancement.
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Purpose To evaluate the feasibility of using dual-energy CT scanner to differentiate two contrast media bismuth and gadolinium. Materials and Methods Two phantoms containing contrast media of different ratio were scanned on dual-energy CT. Group 1 was mixture of iodine and gadolinium solution with volume ratio of 0∶1, 1∶6, 1∶1, 6∶1 and 1∶0. Group 2 was mixture of iodine and bismuth solution with mass ratio of 0∶1, 1∶6, 1∶1, 6∶1, 1∶0. Monoenergetic image reconstruction was performed at 80 keV. Liver VNC software was used for virtual scanning and iodine concentration analysis. Results Under 80 keV reconstruction, the measured CT attenuation of Group 1 was 379-383 HU, and 170-173 HU in group 2. The iodine concentration of two groups was not signiifcantly different between the calculated and actual iodine concentration (P>0.05). The dual-energy CT can distinguish two contrast media. Iodine and gadolinium contrast media were not statistically different, while iodine and bismuth contrast media agent could be easily differentiated. Conclusion Dual-energy CT can distinguish two contrast media with different attenuation.
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Objective To explore the effects of antidepressant combined with improved Morita therapy in the treatment of somatoform disorder. Methods 78 patients with somatoform disorder were randomly divided into study group (medication combined with improved Morita therapy,39 cases) and control group (medication,39 cases). Both groups were assessed with symptom checklist 90 (SCL-90), Eysenck personality questionnaire ( EPQ )and global assessment scale ( GAS ) before and after treatment. Results After treatment, the factor scores in SCL-90 of the study group were (1. 14±0.41),(1.81 ±0.44),(1.27 ±0.41),(1.20±0.54),(1.49 ±0. 66 ), ( 1.25 ± 0. 42 ), ( 1. 09 ± 0.48), ( 1.07 ± 0. 42 ), ( 1.16 ± 0. 42 ), and that of the control group were ( 1. 46±0.44) ,(2.19±0.50),(1.56±0.40),(1.54±0.56),(1.85 ±0.48),(1.47±0.44),(1.33±0.54),( 1.38 ± 0. 58 ), ( 1.38 ± 0. 45 ), there were significant differences ( P ＜ 0. 05, P ＜ 0. 01 ). EPQ-E and EPQ-N of the study group were 7.02 ±4.06 and 12.7 ±3.89 respectively ,EPQ-E and EPQ-N of the control group were 14.8± 4.3 and 8.97 ± 4.32 respectively, there were significant differences ( P ＜ 0.05 ). The obvious effective rates of two groups were 82. 05% and 56.41% (x2 =4.875, P＜0. 05 ). Conclusion The effects of antidepressant combined with improved Morita therapy is much better in the treatment of somatoform disorder.