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OBJECTIVE@#To explore the clinical characteristics and genetic basis for a pair of twins affected with hyaline fibromatosis syndrome (HFS).@*METHODS@#Clinical data of the twins were retrospectively analyzed. High-throughput sequencing was carried out to detect potential pathogenic variants. CLUSTALX was employed to analyze cross-species conservation of the mutant amino acids. Impact of the mutations was predicted by using software including PolyPhen-2 and Mutation taster.@*RESULTS@#The pair of twins have featured growth and intelligence retardation, and were found to carry compound heterozygous variants of the ANTXR2 gene including c.1214G>A and c.1074delT, among which c.1214G>A was unreported previously. Both variants were predicted to be pathogenic. In addition to growth and mental delay, the pair of twins also featured hyperplasia of the gum and soft tissue-like masses of the auricle. The younger brother had rupture of the auricle mass during follow-up.@*CONCLUSION@#The patients' condition can probably be attributed to the compound heterozygous variants of the ANTXR2 gene. Above finding has facilitated molecular diagnosis of the patients.
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Humans , Male , Asian People/genetics , China , Hyaline Fibromatosis Syndrome/genetics , Mutation , Pedigree , Receptors, Peptide/genetics , Retrospective StudiesABSTRACT
Objective To observe the clinical efficacy and safety of estradiol and progesterone combined with metformin or pioglitazone in the treatment of polycystic ovary syndrome(PCOS). Methods Totally 132 PCOS patients in our hospital were collected in this study. Patients were randomly divided into metformin group and pioglitazone group, 66 cases in each group. The expression of FSH, LH, T, and E2 was detected by electrochemiluminescence. TC, TG, LDL-C, and HDL-C was detected by colorimetry. HOMA-β and HOMA-IR were determined by the steady state model. The clinical efficacy and adverse reactions were compared between the two groups. Results FSH, LH, T and E2 levels had no significant difference between the two groups before treatment (P ＞ 0. 05). After treatment, FSH, LH and T were significantly decreased in the two groups, and E2 were significantly increased (P ＜ 0. 01). But, there was no significant differences of FSH, LH, T and E2 levels between the two groups after treatment (P ＞ 0. 05). The effective rate in metformin group was 90. 9％ (60 /66), and in pioglitazone group was 93. 9％ (62 /66). There was no significant difference between the two groups (P ＞ 0. 05). There was no significant difference in TC, TG, LDL-C, HOMA-and HOMA-IR levels between the two groups after treatment (P ＞ 0. 05). However, the level of HDL-C was significantly higher in pioglitazone group than that in metformin group (P ＜0. 05). The BMI of pioglitazone group was 25. 64 ± 5. 35kg /m2, which was significantly higher than that of 21. 31 ± 4. 13kg /m2 in metformin group (P ＜ 0. 05). The gastrointestinal adverse reaction rate was 13. 6％ in pioglitazone group, which was significantly lower than that of 27. 3％ in metformin group (P ＜ 0. 05). Conclusion The clinical efficacy of estradiol and progesterone combined with metformin or pioglitazone in treatment of PCOS was significantly. But pioglitazone significantly increased HDL-C, with lower gastrointestinal adverse reaction rate, and metformin can reduce the patient weight.
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Objective: To observe the effects of Fufang Lishao Pills (FFLSP) on the proinflammatory factors, pain-relatedproteins and JAK2/STAT3 signaling pathways in nitroglycerin-induced chronic migraine model, and exploring thepharmacological target and mechanism of FFLSP on chronic migraine rats. Methods: Male Sprague-Dawley rats wererandomly divided into 6 groups: Control, Migraine, FFLSP-L (420 mg·kg-1), FFLSP-M (840 mg·kg-1), FFLSP-H (1680mg·kg-1) and Flunarizine Hydrochloride group (FH, 1 mg·kg-1) . Chronic migraine model was made by subcutaneousinjection of nitroglycerin (10 mg·kg-1) once every 3 days for 5 times. The rats were treated with FFLSP by intragastricadministration once a day for 30 days. Western blot was used to detect the protein expression of iNOS, COX-2, CGRPand c-Fos and the phosphorylation levels of JAK2 and STAT3 in cortex of rats. The production of IL-1β and TNF-αwere detected by enzyme linked immunosorbent assay (ELISA) . Results: Compared with Control rats, and the level ofiNOS, COX-2, CGRP, c-Fos expression (P ＜ 0.01) and IL-1β, TNF-α production remarkably up-regulated (P ＜ 0.05), and the phosphorylation of JAK2 and STAT3 also significantly increased in cotex of Migrainerats (P ＜ 0.01) . However, compared with Migrainerats, the levels of iNOS, COX-2, CGRP, c-Fos expression and IL-1β, TNF-α productionobviously declined (P ＜ 0.05; P ＜ 0.01), and the phosphorylation level of JAK2 and STAT3 showed a significantlydecrease in the cortex of Migraine rats with FFLSP treatment (P ＜ 0.01) . Conclusion: This study demonstrates that thepharmacological mechanism of FFLSP in improving chronic migraine may be achieved by inhibiting neuroinflammationthrough the blockage of JAK2/STAT3 pathwayin the cortex of rat with nitroglycerin induction.
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Objective To observe the effect of acupuncture plus acupoint injection on the hyperhomocystinemia in the convalescent stage of cerebral infarction patients.Method A total of 120 patients in the convalescent stage of cerebral infarction with hyperhomocystinemia were randomized into group A, group B, and group C, 40 cases in each group. The three groups were intervened by conventional western medicine treatment and rehabilitation therapy, the group A was byXing Nao Kai Qiao acupuncture treatment in addition, the group B was by acupoint injection with cobamamide for injection and the group C was byXing Nao Kai Qiao acupuncture plus acupoint injection treatment. The change of the plasma homocysteine (HCY) level, the Barthel Index (BI) score and National Institutes of Health Stroke Scale (NIHSS) score were observed before and after treatment.ResultEach index(the HCY level, BI score and NIHSS score) in the three groups was significantly changed after treatment(P<0.01). Each index in the group C was significantly different from that in the group A and group B after treatment(P<0.05,P<0.01). The HCY level of the group B after the treatment was significantly different from that of the group A.Conclusion Acupuncture plus acupoint injection can significantly change the HCY level of the convalescent stage of cerebral infarction patients with hyperhomocystinemia, improve the activity of daily living and nerve function.
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<p><b>OBJECTIVE</b>To compare the differences in the characteristic medicinal cupping therapy between the traditional cupping device and the innovated cupping device.</p><p><b>METHODS</b>Fifty patients of neck and low back pain were selected. The self-comparison was adopted. The cupping therapy was applied to the acupoints located on the left or right side with the traditional cupping device and the innovated cupping device. The cupping sites were centered at bilateral Quyuan (SI 13) and Dachangshu (BL 25). The cups were retained for 10 min. The traditional cupping device was the glass with smooth border, 100mL. The innovated cupping device was the vacuum-sucking cup. The operative time, medicinal leakage, comfort and cupping marks were observed for the two different cupping devices.</p><p><b>RESULTS</b>The operative time with the innovated medicinal cupping device was shorter obviously compared with the traditional one at Quyuan (SI 13) and Dachangshu (BL 25, both P<0. 05). The comfort with the innovated medicinal cupping device was remarkably improved as compared with the traditional one at the two acupoints (both P<0. 05). The medicinal leakage was similar between the two different devices during the cupping operation (both P>0. 05). The cupping marks with the innovated medicinal cupping device were much deeper than those with the traditional one after cupping therapy.</p><p><b>CONCLUSION</b>The innovated cupping device is more convenent and comfortable in operation during the characteristic medicinal cupping therapy.</p>
Subject(s)
Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Young Adult , Acupuncture Points , Low Back Pain , Therapeutics , Medicine, Chinese Traditional , Methods , Meridians , Neck Pain , TherapeuticsABSTRACT
Objective To observe the clinical efficacy of hydro-medicinal cupping using Chinese medicinal granules in treating discogenic low back pain. Methods Sixty patients with discogenic low back pain were randomized into a treatment group and a control group, 30 in each group. The two groups were both intervened by hydro-medicinal cupping at Yaoyangguan (GV 3) and two sides of the point, while the Chinese medicinal granules were used in the treatment group and the conventional form of medicine was used in the control group. The pain score was observed before treatment and after 4 treatment courses, and the clinical efficacies were also compared. Results The pain scores were significantly changed after intervention in both groups (P0.05). The total effective rate was 93.3%in the treatment group versus 96.7% in the control group, and the difference was statistically insignificant (P>0.05). Conclusions Hydro-medicinal cupping is an effective approach in treating discogenic low back pain, and there is no marked difference in efficacy between the Chinese medicinal granules and conventional form of medicine.
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Objective To investigate the efficacy ,safety and compliance of mesalazine sustained‐release (SR) granules taking once daily or multi‐times daily in the treatment of patients with mild to moderate active ulcerative colitis .Methods Sixty patients with mild to moderate active ulcerative colitis were divided into group A ,B and C with 20 patients in each group .Group A received mesalazine SR granules 4 g once daily ,Group B with 2 g each time and twice daily ,Group C with 1 g each time and four times daily . The total course was eight weeks . The vital signs ,Mayo score ,compliance and adverse effects of patients were monitored at 0 ,4th ,8th weeks .At 0 and 8th weeks ,colonoscopy were performed . The parameters of efficacy assessment were clinical complete remission rate , clinical remission rate , efficacy rate ,mucosal healing rate ,remission time and safety .The F test ,t test or Chi‐square test was performed for comparison among groups .Results The clinical complete remission rate of group A ,B and C was 20% (4/20) ,10% (2/20) and 10% (2/20) ,respectively .The clinical complete remission rate was 70% (14/20) ,65% (13/20) and 70% (14/20) ,respectively .The efficacy rate was 95% (19/20) ,85%(17/20) and 90% (18/20) ,respectively .The mucosal healing rate was 70% (14/20) ,60% (12/20) and 50% (10/20) ,respectively .The side effects rate was 20% (4/20) ,15% (3/20) and 20% (4/20) .There was no significant difference between groups (all P > 0 .05) .The remission time of group A and B was (15 .4 ± 3 .7) days and (15 .6 ± 2 .9) days ,which were both shorter than that of group C (18 .4 ± 3 .6) days ,and the differences were statistically significant (t= 2 .661 and 2 .710 ,both P< 0 .05) .There was no significant difference among three groups in gender ,disease course , severity , location and clinical remission rate of sub‐groups .Conclusions The efficacy and safety of mesalazine SR granules taking once daily or multi‐times daily are similar in the treatment of patients with mild to moderate active ulcerative colitis .Once daily have better compliance than other regimens .
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Objective To administer a lower dose according to different indoor temperatures to give play to the effect of characteristic decoction cup hot compress and be able to save the cost of medicine. Method Twenty subjects were allocated, according to different indoor temperatures, to four groups, 5 cases each. Each subject received 10 sessions of decoction cupping with different doses. The decoction in all the cups was 45℃ before cupping. The temperature of decoction in the cups was measured after cupping. The average value of temperatures of the same doses at the same indoor temperature was calculated after cupping. The graph of average temperature curve of decoction in the cups was produced according to the indoor temperature after cupping with different doses. Finally obtained were the lowest doses of decoction with hot compress effect in the cup required at different indoor temperatures. Result To produce the effect of characteristic decoction cup hot compress, the decoction in the cup must be more than 55 mL in a indoor temperature of 10℃~14℃, more than 45 mL in a indoor temperature of 15℃~19℃ and more than 25 mL in a indoor temperature of 20℃~24℃. Only 20 mL of decoction was needed in indoor temperatures above 25℃. Conclusion A dose of decoction is flexibly selected according to a seasonal change in indoor temperature. That can not only have the effect of hot compress but also save the dosage.
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Adrenal hemangioma is a rare neoplasm.The clinical data of a case of adrenal cavernous hemangioma and review of related literatures are herewith presented.Adrenal cavernous hemangioma is often nonfunctioning and benign.CT and MRI show the features of hemangioma.The treatment depends on the size of the mass,and the diagnosis is based on pathology.
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Objective To study the value of breast imaging reporting and data system (BI-RADS)in Chinese breast cancer screening. Methods A total number of 3483 women participated in breast cancer screening with mammography in Hexi district in Tianjin from August to December 2009, which was organized by ministry of public health. BI-RADS assessment categories and recommendations were compared with histological findings. The precision, sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) were calculated. Results Among 3483 screening mammography cases, 267 were almost entirely fat breast, 1245 were scauered fibroglandular, 1890 were dense and 81 extremely dense.There were 1011 patients(29.0%) with category 1, 1741 (50.0%) with category 2, 383 (11.0%) with category 3, 59 patients(1. 7%) with category 4 and 16 (0. 5%) with category 5 according to BI-RADS assessment categories. Totally, 71 women with 77 lesions were confirmed by histological examinations. There were 29 malignant and 48 benign lesions. The diagnostic precision, sensitivity, specificity of BI-RADS were 63. 6% (49/77) , 93. 1% (27/29) and 45.8% (22/48) . The general PPV of BI-RADS was 50. 9%(27/53). The PPV of categories 0, 4, 5 were 25.0% (1/4), 36. 4% (12/33) and 87. 5% (14/16). The NPV of categories 2 and3 were90.9% (10/11), 100.0% (12/12). Conclusions B1-RADS is of much value in assessing the breast malignancy. It is applicable in Chinese breast cancer screening.
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<p><b>OBJECTIVE</b>To investigate the effects of Naoxinduotai capsule on the markers of prothrombotic state as plasminogen activator inhibitor-1 (PAI-1), von Willebrand factor (vWF) and alpha-granular membrane protein (CD62p) in essential hypertension patients of yang hyperactivity and blood stagnation.</p><p><b>METHOD</b>The 62 essential hypertension patients of yang hyperactivity and blood stagnation were divided into Naoxinduotai capsule + perindopril group (treatment group, 30 subjects) and Perindopril group (control group, 32 subjects). Clinical symptoms, blood pressure and the blood plasma PAI-1, vWF, CD62p of the patients were observed. The blood plasma PAI-1, vWF and CD62p were measured by enzyme-linked immunosorbant assay (ELISA).</p><p><b>RESULT</b>After 8 weeks treatment, in treatment group the clinical symptoms became better, and there was a significant difference with control group (P < 0.05). Blood pressure was significantly degraded, but there was not a significant difference with control group. The blood plasma PAI-1, vWF, CD62p level was degraded ,and there were significant differences with control group in all the three makers (P < 0.05).</p><p><b>CONCLUSION</b>Naoxinduotai capsule can treat the essential hypertension patients of Yang hyperactivity and blood stagnation, and it has conspicuous advantages in improving the clinical symptoms and the makers of prothrombotic state.</p>
Subject(s)
Aged , Female , Humans , Male , Biomarkers , Blood , Blood Pressure , Capsules , Hypertension , Blood , Drug Therapy , P-Selectin , Blood , Plasminogen Activator Inhibitor 1 , Blood , Platelet Membrane Glycoproteins , Metabolism , Thrombosis , Blood , Treatment OutcomeABSTRACT
Objective To evaluate the mammographic characteristics of primary lymphoma of the breast and to correlate the imaging features with the histopathologic findings.Methods We retrospectively reviewed records in 27 patients with histologically proven primary malignant lymphoma of the breast.Mmammography was performed before surgery in 14 cases.The clinical, pathologic, and imaging features were retrospectively reviewed and correlated in these 14 patients.All patients were female, with the mean age of 41.5 years (range 28-56).The lesion was in the right breast in 7 patients, the left in 6, and bilateral in 1.Results Histology revealed 13 Non-Hodgkin lymphoma (NHL) and 1 Hodgkin lymphoma (HL).In primary lymphoma, mammography revealed a unilateral solitary mass in 9 cases, unilateral multiple masses in 2 cases, bilateral multiple masses in 1 case, and unilateral diffusely increased opacity with skin thickening in 2 cases.The diameter of the masses ranged from 0.7 cm to 5.0 cm (mean 2.6 cm). Of the total 18 masses, the margins of the masses were well defined in 13, and partially defined in 5.Neither calcifications nor spiculations nor adjacent skin retraction were seen.Of the 13 NHL, histologic examination showed diffuse NHL in 12 cases and follicular NHL in 1.No mammographic features were identified that could helped distinguish follicular from diffuse NHL.Conclusion Primary lymphoma of the breast usually presents with clinical and mammographic findings mimicking a carcinoma or benign tumor.Although the clinical and imaging characteristics may suggest the possibility of breast NHL, none of the findings are pathognomonic.The final diagnosis depends on histopathology.
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Objective To investigate the relationship between plasma leptin levels and obesity,plasma glucose as well as insulin concentrations.Methods Fasting plasma leptin concentrations were measured with IRMA in 171 cases (including 84 type 2 DM,36 IGT,51 NGT;90 men,81 women),and oral glucose tolerance test was done in every case to measure plasma glucose and insulin concentrations.Height,body weight were measured to calculate body mass index (BMI).Results Fasting plasma leptin levels are correlated with BMI( r=0.6772,P