Female ; Humans ; Infant ; Metabolism, Inborn Errors ; Methylmalonic Acid ; blood

Adolescent ; Humans ; Male ; Wolfram Syndrome

OBJECTIVETo analyze the imaging features of osteopoikilosis and its diagnosis knowledge.

METHODSThe imaging data of 9 patients with osteopoikilosis were analyzed retrospectively, including 6 familial cases and 3 sporadic cases. In 6 familial cases,there were 4 males and 2 females with an average age of 28 years old ranging from 10 to 63 years. Clinical manifestations of 1 familial case were left knee pain and limitation of activity for 3 years, and other 5 cases without clinical manifestation. In 3 sporadic cases, there were 2 males and 1 female with an average age of 33.7 years old ranging from 25 to 44 years. Three sporadic cases had obvious injury history with following up from 6 to 12 months. All imaging results of 9 cases were observed.

RESULTSThe imaging data of 6 familial osteopoikilosis showed the multiple round or oval nodes within bone with clear margins, uniform density, different size. The occurrence of the hyperostotic spots preferentially localized in the epiphyses and metaphyses of the long bones, and carpus and tarus. X-ray features of 3 sporadic osteopoikilosis were similar to that of 6 familial cases and for 6 to 12 months follow-up X-ray features were unchanged.

CONCLUSIONThe imaging features of osteopoikilosis are relatively specific such as the multiple mottling dense focal within bone with clear border and bilateral symmetry, and the focus located on cancellous bone and the diaphyses usually is unaffected. The imaging is a valuable examination for the accurate diagnosis of osteopoikilosis.

Adolescent ; Adult ; Child ; Female ; Humans ; Male ; Middle Aged ; Osteopoikilosis ; diagnosis ; diagnostic imaging ; Pedigree ; Radiography ; Young Adult

Objective To determine the role of fosinopril and valsartan intervention in Klotho, matrix metalloproteinase-9 (MMP-9), tissue inhibitor of metalloproteinase-1 (TIMP-1) and plasminogen activator inhibitor (PAI-1) gene expression in hypertensive renal interstitial fibrosis (RIF) in the kidney tissue of spontaneously hypertensive rats (SHR). MethodsWe randomly divided 20 male 22-week-old SHR into 4 groups (5 in each group):a hypertension group (SHR group), a fosinopril group ［Fos group, 10 mg/( kg·d) gavage］, a valsartan group ［Val group, 10 mg/( kg·d) gavage］， and a fosinopril plus valsartan group ［Fos + Val group, fosinopril 10 mg/( kg·d) + valsartan 50 mg/( kg·d) gavage］. Another five 22-week-old male Wistar Kyoto rats (WKY) were used as controls. Through monitoring the weight of the rats, tail artery pressure, 24-hour urine protein by fosinopril and/or valsartan intervention after the 8-week trial. RT-PCR and Western blot were used to detect the mRNA and protein expression of Klotho, MMP-9, TIMP-1, and PAI-1 in the kidneys.Results RT-PCR showed that in the SHR group, Klotho mRNA and protein expression were significantly decreased(P＜0.01), while mRNA and protein expression of MMP-9, TIMP-1, and PAI-1 were significantly higher compared with the WKY group(P＜0.01). With fosinopril and / or valsartan intervention, Klotho mRNA expression in the Fos group (P＜0.01), Fos + Val group (P＜0.01), Val group (P＜0.05), Klotho protein expression in the Fos group(P＜0.05), Fos + Val group (P＜0.05), Val group (P＜0.01), were significantly increased compared with those in the SHR group. The mRNA and protein expression of MMP-9, TIMP-1, and PAI-1 in the Fos group, Val group, and Fos + Val group were significantly lower than those in the SHR group (P＜0.01). The expression of Klotho mRNA had negative correlation with the expression of MMP-9 mRNA (r= -0.864, P<0.01), TIMP-1 mRNA (r=-0.725, P<0.01) and PAI-1 mRNA (r=-0.785, P<0.01). The Klotho protein expression had negative correlation with the expression of MMP-9 protein (r=-0.614, P<0.05), TIMP-1 protein (r=-0.579, P<0.05), and PAI-1 protein (r=-0.552, P<0.05). Conclusion Anti-aging gene Klotho and the genes related with extracellular matrix degradation gene MMP-9, TIMP-1, PAI-1 are involved in hypertensive renal injury. The expression of Klotho and MMP-9, TIMP-1, and PAI-1 is closely correlated. Fosinopril and valsartan which increase the Klotho mRNA and protein expression can alter the expression of Klotho-MMPs/TIMPs, which may be the main mechanism to prevent interstitial fibrosis.

AIM: To observe the effect of Baoxin capsules on hemodynamics of ischemic myocardium of dogs. METHODS: Fed Baoxin capsule for continuous three days, left anterior descending branch of the coronary artery of the dogs were ligated to observe the change of cardiac output, blood pressure and ?dp/dt max in different time of myocardial ischemia. RESULTS: Baoxin capsules increased the blood flow obviously, and increased left ventricular function simultaneously, the difference with ischemic group is significant (P

Objective To explore the effects of oral rehydration salts [Ⅰ] (ORS Ⅰ) for autonomic nerve mediated syncope(NMS) in children with different hemodynamic patterns.Methods A total of 105 patients with unexplained syncope and prodromal symptoms of syncope who were confirmed as NMS by head-up tilt table test(HUTY) and treated in the Department of Pediatric Cardiovasology,Children's Medical Center,the Second Xiangya Hospital,Central South University,from March 2012 to February 2015.Their ages were from 4 to 18 years old,the average age was (11.96 ± 2.86) years old.Totally 73 cases were diagnosed as vasovagal syncope (VVS) (46 cases were vasodepressor type,27 cases were VVS mixed type or cardioinhibitory type),while 32 cases were diagnosed as postural orthostatic tachycardia syndrome(POTS).Simple random method was used to divide them into conventional therapy (health education and tilt training) plus ORS Ⅰ group (55 cases),and conventional therapy group (50 cases).Patients were followed up for 6-25 (14.82 ± 6.13) months.The recurrence of syncope and review of HUTT outcome assessment in 6 months,treatment was studied to evaluate short-term efficacy of 2 different therapies for NMS in children with different hemodynamic patterns.Taking recurrence of syncope as outcome events,Kaplan-Meier curves were drawn to compare long-term efficacy of different therapies in treating NMS children.Results There was no statistical difference in the short-term efficacy among the different hemodynamic patterns when treated with conventional therapy plus ORS I,or conventional therapy(all P ＞ 0.05).The cumulative efficiency of the conventional therapy plus ORS Ⅰ was superior to that of the conventional therapy for NMS children through the long-term follow-up study (74.5％ vs.52.0％,x2 =14.424,P ＜ 0.01).Patients with vasodepressor patterns had a better response than those with mixed or cardioinhibitory patterns to conventional therapy plus ORS I (90.0％ vs.61.1％,x2 =4.435,P ＜ 0.05).Conclusions Compared with VVS mixed type or cardioinhibitory type,children with VVS vasodepressor patterns are more appropriate to take ORS I as initial treatment.

Objective To explore the role of protein kinase C(PKC) to regulate the activation of nuclear factor-?B(NF-?B)in T lymphocyte in children with acute idiopathic thrombocytopenic purpura(ITP).Methods Sterility peripheral blood was collected from acute ITP children(n=30)and healthy children(n=30).T lymphocytes were isolated and purified,and divided into 3 groups:control group,PMA group stimulated with PMA,PMA plus H-7 group stimulated with PMA and H-7.The expression of NF-?B and inhibitor protein-?B(I-?B)was detected by immunohistochemical staining and Western blot,respectively.Results The percentage of cells with active NF-?B was significantly higher and the expression level of I-?B was significantly lower in acute ITP PMA group than that in acute ITP control group and normal PMA group,respectively(all P

Child ; Child, Preschool ; Female ; Forkhead Transcription Factors ; genetics ; metabolism ; Humans ; Immune System Diseases ; immunology ; Male ; Purpura, Thrombocytopenic, Idiopathic ; genetics ; immunology ; metabolism ; T-Lymphocytes, Regulatory ; immunology

Angina Pectoris ; drug therapy ; Animals ; Drugs, Chinese Herbal ; therapeutic use ; Humans ; Phytotherapy ; Technology, Pharmaceutical

Ectodermal Dysplasia ; classification ; diagnosis ; Humans ; Infant ; Male ; Patient Care