Actins ; metabolism ; Adult ; Aged ; Carcinoma, Squamous Cell ; metabolism ; pathology ; Female ; Humans ; Laryngeal Neoplasms ; metabolism ; pathology ; Lymphatic Metastasis ; pathology ; Lymphatic Vessels ; metabolism ; pathology ; Male ; Middle Aged ; Vascular Endothelial Growth Factor C ; metabolism

Objective To evaluate whether Ly294002,suppressing phosphatidylinositol 3 kinase (PI3K)/AKT survival signaling pathway,can change the sensitivity of breast cancer cells to radiotherapy. Methods Breast cancer cultured MCF7 cells treated with:radiation alone;Ly294002;or the combination of radiation and Ly294002.The inhibition of PI3K/AKT by Ly294002 was confirmed by Western blot.Clo- nogenic assay was used quantitatively to measure the mitotic cell death,and caspase-3 assay was used to e- valuate apoptosis.Results 1.Ly29400 could partially inhibit phosphorylated AKT but not radiation,the combination of both could enhance the inhibition of phosphorylated AKT,2.Timing of exposing cells to Ly294002 had some impact on clonogenic survival by radiation,one hour pre-radiation and 10 days post-ra- diation exposing to Ly294002 could maximally sensitize the cells to irradiation,3.Ly29400 combined with radiation could synergistically enhance mitotic death and apoptosis of MCF7 cells,with SER of SF_4 and D_0, being equal to 1.25 and 1.42.Conclusions PI3K/AKT pathway may be a potential target for enhancing the response of breast cancer cells to radiotherapy.

Adult ; Carcinoma, Renal Cell ; secondary ; Female ; Humans ; Kidney Neoplasms ; pathology ; Magnetic Resonance Imaging ; Vaginal Neoplasms ; secondary

OBJECTIVE: To study the sequences of off-ladder alleles of PowerPlex 16 kit in Chinese Han population and their nomenclature. METHODS: 10071 Samples from unrelated individuals in Chinese Han population were screened by using PowerPlex 16 kit and ABI 377 or 3100. The samples showing off-ladder alleles were re-screened with PAGE and the off-ladder alleles were obtained and sequenced. RESULTS: 32 off-ladder alleles were found in 11 STR loci, whose frequencies ranged from 0.05 per thousand to 4.02 per thousand. These alleles were classified as four types: (1) having complete repeat but its length is out of the ladder; (2)having incomplete repeat; (3) having deletion or insertion of one or two base(s) in flanking sequence; (4) having deletion of some segment. CONCLUSION Off-ladder alleles have various types. It demonstrates varying repteating number of the core unit, and variation in the flanking sequence or core sequence as well. The nomenclature of International Society for Forensic Haemogenetics cannot define these alleles effectively.
Alleles ; Asian People/genetics* ; Base Sequence ; China/ethnology* ; DNA/analysis* ; Female ; Gene Frequency ; Genetics, Population ; Genotype ; Humans ; Male ; Sequence Analysis, DNA ; Tandem Repeat Sequences/genetics*

OBJECTIVETo investigate the effect of bone marrow stem cell transplantation (BMT) on the diaphragm muscles of mdx mice, a mouse model of Duchenne muscular dystrophy (DMD).

METHODSThe bone marrow-derived stem cells form male SD rats was transplanted through the tail vein into 18 female 8-week-old mdx mice, which were sacrificed at 4, 8 and 12 weeks after BMT (6 at each time point), respectively. The diaphragm muscles of the mice were subjected to HE staining, immunofluorescence detection of dystrophin, reverse transcription (RT)-PCR analysis of dystrophin mRNA transcripts and PCR analysis of Sry (sex-determining region on the Y chromosome) gene, with age-matched female C57 mice and untreated mdx mice as the controls.

RESULTSThe proportion of centrally nucleated fibers (CNF) in the diaphragm muscle of the recipient mdx mice was (15.58+/-0.91) %, (12.50+/-1.87) % and (10.17+/-1.17) % at 4, 8 and 12 weeks after BMT, respectively, significantly smaller than that of untreated mdx mice [(19.5+/-1.87) %], and the fibers after BMT showed less inflammatory infiltration. Compared with the untreated mice, the recipient mdx mice showed green fluorescence on significantly more diaphragm muscle cell membranes [with the proportion of dystrophin-positive fibers of (1.00+/-0.32) %, (6.00+/-1.05) % and (11.92+/-1.11) % at 4, 8, and 12 weeks after BMT]. RT-PCR of dystrophin mRNA also demonstrated significantly higher relative levels of dystrophin in the recipient mdx mice (0.19+/-0.05, 0.26+/-0.06 and 0.36+/-0.04 at 4, 8 and 12 weeks after BMT) than in untreated mdx mice, and Sry gene was present in the recipient mice.

CONCLUSIONBMT can partially restore dystrophin expression and ameliorate the pathology in the diaphragm muscles of mdx mice, and has great potential to produce general therapeutic effect in patients with DMD.

Animals ; Bone Marrow Transplantation ; methods ; Diaphragm ; metabolism ; pathology ; Dystrophin ; biosynthesis ; genetics ; Female ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Inbred mdx ; Muscular Dystrophy, Duchenne ; metabolism ; pathology ; surgery ; Rats ; Rats, Sprague-Dawley ; Transplantation, Heterologous

OBJECTIVETo determine the infective status and natural distribution of Xinjiang hemorrhagic fever (XHF; Crimean-Congo hemorrhagic fever, CCHF) in ticks, rodents and livestock in the Tarim Basin.

METHODSThe pathogenic materials of ticks or rodents' viscera and blood samples of sheep were inoculated into sucking mouse of 24 to 48-hour old. Materials with typical clinic symptoms were identified with RPHA and IFA. RT-PCR was taken to detect special S gene segment of Crimean-Congo hemorrhagic fever virus (CCHFV) in the objective material.

RESULTSAll the samples of ticks, rodents' viscera and blood samples of sheep from 21 counties (cities) in the Tarim Basin were divided into 422 groups and inoculated into sucking mouse at laboratory. 49 materials with typical clinic symptoms were obtained. The morbidity rate with typical clinic XHF was high in Bachu, Yuli, Yutian and Ruoqiang. There were 43 samples identified with RPHA with 6 positive samples and positive rate of 1.4%. The materials with positive RPHA were found in Yuli, Luntai and Yutian. 42 samples were identified with IFA and 13 positive samples with the positive rate of 3.1%. The positive materials of IFA were found in Bachu, Yuli, Minfeng, Luntai and Yutian. 32 samples were detected with RT-PCR and there were 31 samples with special S gene segment of CCHFV (329- 548 nt). The positive materials was widely distributed in Aksu, Awat, Bachu, Luopu, Yuli, Minfeng, Qiemo, Ruoqiang, Luntai and Yutian. The highest infective rate was in Hyalomma asiaticum kozlovi, and followed by sheep. S gene segment was detected in viscera of M. meridianus.

CONCLUSIONXHF relied on the river in the southern part of Xinjiang and distributed in the areas with Populus euphratica shrub in desert and oasis in the Tarim Basin. The main vector and host were Hyalomma asiaticum kozlovi. Livestock such as sheep, camel, L. yarkandensis, M. meridianus and Euchoreutes naso could serve as the deposited host of XHF.

Animals ; Animals, Domestic ; virology ; China ; epidemiology ; Hemorrhagic Fever Virus, Crimean-Congo ; genetics ; isolation & purification ; Hemorrhagic Fever, Crimean ; epidemiology ; transmission ; Humans ; Morbidity ; Polymerase Chain Reaction ; Rodentia ; virology ; Ticks ; virology

Yellow nail syndrome is a rare cause of pleural effusions. This syndrome is characterized by yellow discoloration of nails, lymphedema, and respiratory disorders, including pleural effusion, chronic bronchitis, bronchiectasis, and chronic sinusitis. The etiology of this syndrome is obscure, but the pathogenesis seems to be related with impaired lymphatic drainage. We report a case of yellow nail syndrome in a 70-year-old female with the typical clinical findings (yellow discoloration of nails, lymphedema, and chronic pleural effusion) of this disorder and with proven lymphatic obstruction on lymphoscintigraphy.
Aged ; Bronchiectasis ; Bronchitis, Chronic ; Drainage ; Female ; Humans ; Lymphedema ; Lymphoscintigraphy ; Nails ; Pleural Effusion ; Sinusitis ; Yellow Nail Syndrome

PURPOSE: Popular use of fetal ultrasonography has increased to detect congenital hydronephrosis(CH) which is the most common anomaly prenatally detected. We'd like to determine the frequency and clinical characteristics of prenatally diagnosed CH and outcome of ureteropelvic junction stenosis(UPJS). METHODS: The records of births between January 1994 and June 2003 in Chonnam National University Hospital(CNUH), and the records of children who were diagnosed with CH in the Department of Pediatrics of CNUH during the above period, were retrospectively analyzed. In the patients with UPJS, the initial anterior posterior diameters of renal pelvis(APD) were compared between the spontaneous regression (SR) and operation group(OP). In the SR group, sequential regression rates of APD were estimated. RESULTS: Among a total 9,076 births, 231(2.54 percent) patients with 293 renal units were diagnosed as CH and 19(6.78 percent) renal units spontaneously regressed 3 days after birth. In 228 children(56 bilateral; 172 unilateral; total 284 renal units) diagnosed with CH in the department of pediatrics of CNUH, male(71.9 percent) and left kidney(69.2 percent) predilection were found and 78.1 percent of CH were caused by UPJS. The initial APD of the SR group(121 units) in UPJS was 7.8+/-6.28 mm, which was significantly smaller than the APD(26.8+/-12.14 mm) of the OP group(25 unit)(P<0.05). In the SR group, 81 percent spontaneously regressed within one year. CONCLUSIONS: In CH, male and left kidney predilection were found. UPJS was the most common cause of CH and initial APD in UPJS at 3 days of age was a good prognostic indicator. Close monitoring should be done for at least one year because most SR in UPJS regressed spontaneously within one year.
Child ; Constriction, Pathologic* ; Humans ; Hydronephrosis* ; Jeollanam-do ; Kidney ; Male ; Parturition ; Pediatrics ; Retrospective Studies ; Ultrasonography, Prenatal

PURPOSE: Congenital hypothyroidism is detected through the neonatal screening test and treated early from neonatal period. Among these patients, however, transient hypothyroidism is included. In this study, we aimed to evaluate the predicting factors of transient hypothyroidism in neonatal screening test. METHODS: We retrospectively reviewed medical records of 40 male and 31 female neonates diagnosed as congenital hypothyroidism by newborn screening from 1996 to 2003. The untreated cases that revealed slightly decreased levels of thyroid hormone on repeated examination and the cases who showed normalized hormone after 2 years of treatment were regarded as transient hypothyroidism. The results of neonatal screening tests and other clinical features of children with transient hypothyroidism were compared to those of children with permanent form. The time to normalization of thyroid hormone levels in the transient hypothyroidism were also reviewed. RESULTS: Among 71 cases of congenital hypothyroidism, 39 cases (54.9%) were transient and 32 cases (45.1%) were permanent hypothyroidism. There were no significant differences in clinical features between two groups, except lower birth weight in the transient group (transient 2.80+/-0.75 kg, permanent 3.22+/-0.57 kg, P=0.02). Free T4 levels were significantly lower and TSH levels were significantly higher in the permanent form than the transient ones (P<0.01). The estimated cut-off point for distinguishing transient hypothyroidism from permanent form was 2.05 ng/dL (sensitivity 54%, specificity 93%) for free T4 and 34 microIU/mL (sensitivity 72%, specificity 87%) for TSH. CONLCUSION: In this study, transient hypothyroidism could be differentiated from permanent hypothyroidism by TSH and free T4 levels of neonatal screening test. Repeated thyroid function tests are thought to be essential to make a diagnosis of not only transient but also permanent hypothyroidism.
Birth Weight ; Child ; Congenital Hypothyroidism ; Diagnosis ; Female ; Humans ; Hypothyroidism* ; Infant, Newborn ; Male ; Mass Screening ; Medical Records ; Neonatal Screening* ; Retrospective Studies ; Sensitivity and Specificity ; Thyroid Function Tests ; Thyroid Gland

BACKGROUNDHypertrophic cardiomyopathy (HCM) is a primary autosomal dominant inheritant myocardial disease with heterogeneity in clinical manifestations, natural history and prognosis. Even carrying an identical gene mutation among family members, a variety of clinical phenotypes have been found in patients with HCM. Modifier genes may contribute to the diversity. The plasma levels of atrial natriuretic peptides (ANP) were found previously to be elevated in HCM. Our studies suggested that ANP gene promoter polymorphism is associated with left ventricular hypertrophy in hypertension. The present study aimed to determine whether the two SNPs in the ANP gene are associated with HCM.

METHODSWe determined the relationships between the ANP gene polymorphism and HCM in 262 HCM patients and 614 age- and sex-matched healthy individuals. All of the subjects were genotyped for -A2843G and A188G polymorphisms.

RESULTSThe genotype frequency in the -A2843G and A188G polymorphisms of the ANP gene was not significantly different between the HCM patients and controls. The -A2843G and A188G polymorphisms were also not associated with clinical phenotype in cardiomyopathy patients.

CONCLUSIONSThe polymorphisms of the ANP gene are not associated with increasing risk of HCM or clinical phenotypes. The variations of the ANP gene may not serve as a genetic modifier for the development of HCM.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Atrial Natriuretic Factor ; genetics ; Cardiomyopathy, Hypertrophic ; genetics ; Case-Control Studies ; Echocardiography ; Female ; Genotype ; Humans ; Linkage Disequilibrium ; Male ; Middle Aged ; Phenotype ; Polymorphism, Genetic ; genetics ; Young Adult