Adult ; Diagnosis, Differential ; Female ; Humans ; Skin ; pathology ; Skin Neoplasms ; pathology ; Skin Ulcer ; pathology ; Tibia

Objective To improve the diagnostic ability of leukoencephalopathy with cerebral calcifications and cysts (LCC),a rare central nervous system disease.Methods The clinical manifestations,neuroimages and neuropathological features of a 19-year-old male patient were analyzed.A total of 20 cases from 14 literatures were reviewed.Results The patient was admitted with right limb weakness,cognitive decline,headache and blurred eyesight.Head CT scan showed multiple calcifications,cysts formation and leukoencephalopathy.Brain MRI showed several cysts in bilateral hemisphere,basal ganglia,thalamus and paraventricular areas.A mural nodule was noted inside one of the cyst,which was enhanced on the contrasted MRI.The wall of the cysts was partially enhanced,but not with the fluid inside the cysts.The corresponding CT calcifications foci showed on T1 and T2 with either both hyperintensity or both hypointensity,which was also partial enhanced.Extensive leukoencephalopathy was formed around the cysts and the ventricles.But neither Cho nor NAA changed a lot on MRS.Amplitude diagram of SWI series exhibited multiple round small dark signals all over the affected areas with mixed signals showed in the phase diagram,which indicated both calcifications and microbleedings at the lesions.Neuropathological examinations found no tumor cells in the operated cyst,and showed angiomatous small blood cells were dominant in the cyst wall.Hyaline degenerations,microcalcifications and hemosiderin deposition were observed.No obvious demyelination was discovered,while gliosis,numerous Rosenthal fibers and fibrinoid vascular necrosis were found around the lesions.The clinical,neuroimaging and pathological features of this patient were in accordance with the cases reported in the literatures.Conclusions Neuroimaging is the most important method for the diagnosis of LCC.As small vessel lesions are probably closely related to the pathophysiology of LCC,SWI could be recommended to further reveal the etiology of LCC.

OBJECTIVETo evaluate the effect of meatoplasty with the pedicle flap in the treatment of meatal stenosis secondary to chronic balanitis.

METHODSWe retrospectively analyzed 32 cases of meatal stenosis secondary to chronic balanitis treated by meato- plasty with the pedicle flap. All the patients had a history of chronic balanitis and had received meatal dilatation or simple ventral mea- totomy without significant effect. Their mean maximum urinary flow rate (Qmax) was (4.3 ± 2.4) ml/s. During the operation, A "/\"-shaped incision was made in the healthy epidermis and a flap was harvested from the frenulum. After complete removal of the scar, the flap was placed into the urethral wall, followed by reconstruction of the external urethral orifice.

RESULTSThe patients were fol- lowed up for 6 to 30 months, which revealed smooth urination in all the patients with Qmax of (26.7 ± 4.5) ml/s and normal erectile function and uresiesthesis.

CONCLUSIONWith little invasiveness and few complications, meatoplasty with the pedicle flap is an ideal surgical method for the treatment of meatal stenosis secondary to chronic balanitis. However, there might be some change in the normal appearance of the balanus postoperatively, and its long-term effect needs further observation.

Balanitis ; complications ; Constriction, Pathologic ; etiology ; surgery ; Dilatation ; Humans ; Male ; Postoperative Period ; Reconstructive Surgical Procedures ; Retrospective Studies ; Surgical Flaps ; Urethra ; surgery ; Urethral Stricture ; etiology ; surgery ; Urination

OBJECTIVETo analyze risk factors of pulmonary arterial hypertension (PAH) in patients with atrial septal defect (ASD) patients living at above 2000 m high altitude area.

METHODSWe retrospectively analyzed the incidence of PAH in 526 ASD patients out of 1178 congenital heart disease patients who were hospitalized in Qinghai cardiovascular hospital between January 2007 to December 2009 and explored the risk factors including gander, age, altitude, defect size and nationalities for developing PAH in ASD patients using binary logistic regression.

RESULTSPAH prevalence was 68.4% (360/526) in ASD patients. The risk factors of developing PAH in these ASD patients were defect size (OR: 1.200, 95%CI: 1.156 - 1.246, P = 0.000), age (OR: 1.027, 95%CI: 1.003 - 1.052, P = 0.025) and altitude (OR: 1.389, 95%CI: 1.001 - 1.637, P = 0.043) while gender and nationality were not risk factors for PAH. The incidence of developing PAH increased with aging (P = 0.000). The standardized ratio of PAH at ≥ 3500 m was 74.8% which was significantly higher than that at 2000 - 2499 m altitude (66.2%, P = 0.005) and at 2500 - 3499 m altitude (66.9%, P = 0.005).

CONCLUSIONSThe risk for developing PAH is high in patients living at high altitude area. The risk factors of developing PAH in ASD patients living at high altitude are defect size, age and altitude.

Adolescent ; Adult ; Aged ; Altitude ; Child ; Child, Preschool ; Female ; Heart Septal Defects, Atrial ; complications ; epidemiology ; Humans ; Hypertension, Pulmonary ; complications ; epidemiology ; Incidence ; Infant ; Male ; Middle Aged ; Retrospective Studies ; Risk Factors ; Young Adult

OBJECTIVETo investigate the difference of liver enzyme levels and its correlation with serum ACE/ACE2 among yak and cattle on Qinghai-Tibetan plateau, and to further explore the biochemical mechanism of their liver of altitude adaptation.

METHODSThe serum samples of yak were collected at 3,000 m, 3,500 m, 4,000 m and 4,300 m respectively, meanwhile the serum samples of migrated cattle on plateau (2,500 m) and lowland cattle (1,300 m) were also collected. The levels of alanine aminotransferase (ALT), aspartate aminotransferase (AST), cholinesterase (CHE), gamma glutamyl transferase (GGT), alkaline phosphatase (ALP), serum lipase (LPS), angiotensin converting enzyme(ACE), angiotensin converting enzyme-2 (ACE2) in serum were measured by using fully automatic blood biochemcal analyzer. We analysed the differences of the above enzymes and its correlation with ACE/ACE2. We used one way analysis of variance (ANOVA).

RESULTSThe levels of ALT in 4,000 m group and 4,300 m group of yak increased significantly compared with other groups, there were no statistically significant differences in AST, CHE, GGT, ACE/ACE2 levels of yaks at different altitudes. As compared to lowland cattle, the serum levels of AST and CHE were increased, the level of LPS and ACE was decreased significantly, respectively, and especially, the ratio of ACE/ACE2 of migranted cattle reduced nearly two times. The levels of LPS were significantly correlated to the ratio of ACE/ACE2 in yak (r = 0.357, P < 0.01), and a high correlation between ALP and ACE/ACE2 in lowland cattle( r = 0.418, P < 0.05), But the biggest contribution rate of the ratio of ACE/ACE2 was only 17.5% for the changes of the levels of liver enzyme.

CONCLUSIONThe results indicated that with the altitude increased did not significantly influence the changes of liver enzymes' activities in mountainous yaks but not in cattle. However, all above these changes weren't actually correlated to the ratio of ACE/ACE2.

Acclimatization ; Alanine Transaminase ; blood ; Alkaline Phosphatase ; blood ; Altitude ; Animals ; Aspartate Aminotransferases ; blood ; Cattle ; physiology ; Cholinesterases ; blood ; Hypoxia ; blood ; Lipase ; blood ; Liver ; enzymology ; Peptidyl-Dipeptidase A ; blood ; gamma-Glutamyltransferase ; blood

The total RNA was extracted from porcine ovary. Porcine Follistatin cDNA was cloned by RT-PCR. Complete porcine follistatin cDNA coding sequences are presented including 1038 bp of open reading frame. The purified porcine follistatin cDNA was inserted into pGEX-4T-3 vector to construct the prokaryotic fusion protein expression vector. The recombinant expression plasmid was transformed into BL21 (DE3) and expression was induced by IPTG. Protein products were detected by SDS-PAGE and confirmed by Western blotting analysis, which showed that the yield of the Follistatin cDNA was a 63kD protein expression vector. Follistatin protein was expressed in the form of glutathione-S-transferase (GST) fusion protein in E. coli.
Amino Acid Sequence ; Animals ; Base Sequence ; Cloning, Molecular ; Escherichia coli ; genetics ; Follistatin ; chemistry ; genetics ; Molecular Sequence Data ; Phylogeny ; Recombinant Fusion Proteins ; biosynthesis ; Swine

BACKGROUNDCongenital heart disease (CHD) is a common heart condition which does considerable harm to the health of children and adolescents. CHD epidemiological characteristics of Tibetan children whose ages ranged from 4 to 18 years were investigated in Qinghai Province.

METHODSA total of 32 578 Tibetan children, living at altitudes of 2535 m, 3600 m and 4200 m, were examined using a three-stage protocol: prescreening, rechecking and diagnosis using a color Doppler. The distribution of CHD at different altitudes was analyzed together with differences in occurrence according to age and gender.

RESULTSA total of 235 CHD cases were discovered. The total prevalence of CHD was 7.21 per thousand. Prevalence of CHD has been shown to increase along with increase in altitude with 5.45 per thousand at an altitude of 2535 m, 6.80 per thousand at 3600 m and 9.79 per thousand at 4200 m. There were no statistically significant differences between the prevalence at 2535 m and 3600 m (chi(2) = 1.594, P > 0.05). However, there was a significant difference between the prevalence at 2535 m and 4200 m (chi(2) = 7.002, P < 0.01). Also, apparent differences existed between the prevalence at 3600 m and at 4200 m (chi(2) = 5.540, P < 0.05). There was no statistically significant difference in prevalence according to age at an altitude of 2535 m, but the rate of CHD increased significantly along with increasing age at 3600 m and 4200 m. The total prevalence ratio of children aged from 16 to 18 years was significantly higher than that of children from 4 to 7, and from 8 to 12 with chi(2) values of 10.79 (P < 0.005), and 5.60 (P < 0.05) respectively. Within the constituent ratio of CHD, the prevalence of atrial septal defect (ASD) was the highest at 39.10%, followed by the prevalence of ventricular septal defect (VSD) at 32.8% and patent ductus arteriosus (PDA) at 24.7%. Furthermore the proportion of the four categories of CHD varied at different altitude levels: at 2535 m, of those diagnosed with CHD, the prevalence rate of VSD was the highest at 43.5%, at 3600 m ASD was the highest at 42.8% and at 4200 m, PDA was the highest at 50.8%.

CONCLUSIONThe epidemiological characteristics of CHD in Tibetan children may be associated with altitude levels.

Adolescent ; Altitude ; Child ; Child, Preschool ; China ; epidemiology ; Cross-Sectional Studies ; Female ; Heart Defects, Congenital ; epidemiology ; Humans ; Male ; Tibet ; epidemiology

OBJECTIVEThe epidemiological characteristics of congenital heart disease (CHD) in children aged from 4 to 18 years were investigated in Qinghai province.

METHODSAltogether 288 066 children inhabiting at 6 prefectures and 3 counties were examined by the following three steps: pre-screening, re-examination and diagnosis with color Doppler. And the entity distribution was analyzed while the differences were compared by age, gender, altitudes and nationalities respectively.

RESULTSAltogether 1633 cases of CHD were discovered. The total prevalence of CHD was 5.71 per thousand. The prevalence of CHD was found to increase with the increase of altitude by 4.89 per thousand at the altitude of 2535 m, 5.71 per thousand at 3600 m, and 8.74 per thousand at 4200 m respectively. There were significant differences among different altitude (chi(2) = 54.696, P < 0.001). chi(2) trend analysis showed the increase with chi(2) = 41.826(P < 0.001). The total incidence of CHD in females was 6.95 per thousand, which was significantly higher than that in males with 4.54 per thousand (chi(2) = 73.79, P < 0.001). There were significant differences between males and females at the altitude of 3000 m (chi(2) = 84.733, P < 0.001) and 4000 m (chi(2) = 16.313, P < 0.001) except at the altitude of 2000 m (chi(2) = 0.807, P > 0.05). The prevalence of CHD in different age groups was statistically significant at the every altitude of 2000 m (chi(2) = 18.138, P < 0.001), 3000 m (chi(2) = 18.544, P < 0.001) and 4000 m (chi(2) = 27.535 P < 0.001). The prevalence of CHD was increasing with the increase of age groups at the altitude of 3000 m (chi(2) = 19.230, P < 0.001) and 4000 m (chi(2) = 26.894, P < 0.001) except at the altitude of 2000 m. Within the prevalence of CHD of different nationalities, there was a significant difference with chi(2) = 24.456 (P < 0.001). Within the constituent rate of CHD, the prevalence of atrial septal defect (ASD) was as high as 37.42%, followed by the prevalence of patent ductus arteriosus (PDA) as 28.47% and ventricular septal defect (VSD) as 26.01%. Regarding the four categories of CHD, the constituent rate varied at different altitudes. For example, the prevalence rate of ASD constituted 37% at the altitude of 2000 m and 3000 m, and that of PDA accounted for 46.36% at the altitude of 4200 m.

CONCLUSIONThe epidemiological characteristics of CHD in Qinghai children were possibly associated with altitude levels.

Adolescent ; Altitude ; Child ; Child, Preschool ; China ; epidemiology ; Cross-Sectional Studies ; Female ; Heart Defects, Congenital ; epidemiology ; Humans ; Male ; Prevalence

The aim of study was to investigate the application of a novel microarray approach for the eight most common leukemia translocations in children for routine molecular diagnostic hematopathology practice. Bone marrow samples from 84 children with leukemia were analyzed by multiplex nested RT-PCR combined with oligonucleotide microarray. The results showed that out of 84 leukemic samples, 31 (36. 90%) carried 8 types of fusion genes including tel/aml1, e2a/pbx1, bcr/ablp190, bcr/ablp210, mll/af4, aml1/eto, pml/raralpha, cbfbeta/myh11. The sensitivity and specificity of the assay is comparable with the RT-PCR technique. In conclusion, this multiplex nested RT-PCR could quickly screen 8 types of chromosome structural aberrations at the same time. It can provide reliable and helpful information for risk stratification, therapy evaluation and prognosis prediction in childhood leukemia. There are both advantages and disadvantages in applying this new method. The microarray-based assay will be an effective and reliable tool in the clinical screening of leukemia patients for the presence of specific gene rearrangements with important diagnostic and prognostic implications.
Adolescent ; Child ; Child, Preschool ; Female ; Gene Rearrangement ; Humans ; Infant ; Male ; Oligonucleotide Array Sequence Analysis ; Oncogene Proteins, Fusion ; genetics ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; genetics ; Reverse Transcriptase Polymerase Chain Reaction ; methods

OBJECTIVETo observe and compare the influence of acupoint sticking therapy in dog days and in non-dog days to the quality of life of allergic rhinitis patients.

METHODSFifty-five cases were divided into group A (the acupoint sticking therapy in dog days group, 28 cases) and group B (the acupoint sticking therapy in non-dog day group, 27 cases) randomly. The acupoint sticking therapy description (Dazhui (GV 14), Fengmen (BL 12), Feishu (BL 13) etc. was used in both groups. Five times of acupoint sticking therapy were given to patients in group A during dog days in 2010, while another 5 times of acupoint sticking therapy were given to patients in group B before the dog days. The Rhinoconjunctivitis Quality of Life Questionnaire (RQLQ) was used to evaluate the effects before, after and half a year after treatment.

RESULTSThe scores of behavior problems, nasal symptoms and quality of life in RQLQ of both groups all decreased after treatment (all P < 0.01). The score of emotion reaction of group A in the follow-up period decreased compared with that before treatment (P < 0.05). The scores of non-nasal-or-ocular symptoms, ocular symptoms and emotion reaction after treatment and in the follow-up period all decreased than those before treatment (P < 0.01, P < 0.05). The decreasing degrees of scores of non-nasal-or-ocular symptoms, ocular symptoms, emotion reaction and quality of life after treatment and in the follow-up period in group A were all greater than those in group B (P < 0.01, P < 0.05).

CONCLUSIONIn the same season, both acupoint sticking therapy in dog days and in non-dog dags can improve the symptoms of allergic rhinitis, but the improving degree to quality of life in the method of acupoint sticking in dog days is greater.

Acupuncture Points ; Adolescent ; Adult ; Child ; Drugs, Chinese Herbal ; therapeutic use ; Female ; Humans ; Male ; Middle Aged ; Quality of Life ; Rhinitis ; drug therapy ; Treatment Outcome ; Young Adult