Actins ; genetics ; Adolescent ; Cardiomyopathy, Dilated ; genetics ; Child ; Child, Preschool ; Desmin ; genetics ; Female ; Humans ; Infant ; Male ; Mutation

Objective To study the genotype of the thyroid hormone receptor ? (THRB) gene in a patient with thyroid hormone resistance syndrome. Methods The peripheral blood samples of the patient and his parents were collected, then DNA was isolated. PCR and direct sequencing techniques were performed to determine if there were mutations in their THRB gene. Results No mutation was found in exon 1-9. There was a point mutation in exon 10 of THRB which is a T to C transition in nucleotide 1658 resulting in the replacement of the normal Val (GTG) with an Ala (GCG) (V458A). The mutation was located in exon 10 of THRB gene and was a heterozygote. No mutation was found in THRB gene of his parents.Conclusion The gene diagnosis confirms that the patient has a mutation V458A located in the ligand binding area of THRB.

Objective To evaluate whether an early change in 18F-fluorodeoxyglucose (18F-FDG) uptake can predict tumor response to epidermal growth factor receptor tyrosine kinase inhibitor (EGFR-TKI) and prognosis in patients with non-small cell lung cancer (NSCLC). Methods From August 2009 to April 2015, 22 patients with NSCLC who were eligible to EGFR-TKI treatment were enrolled. PET-CT scan was performed before (baseline) and 1 month after EGFR-TKI administration. Up to 5 hottest single tumor lesions (no more than 2 per organ) were considered to be target lesions. Maximum standardized uptake values (SUVmax) were measured, and post-treatment percentage changes in SUVmax (ΔSUV%) were calculated. PET responses were classified using PET response criteria in solid tumors (PERCIST). Then conventional CT scan was performed every 2 months for follow-up. Kappa statistic was used to compare agreement between the RERCIST recommendations-based therapeutic response evaluation and those based on RECIST1.1 criteria. Fisher exact test was used to compare the probability of disease progression in the early metabolic response and non-response groups. Predictive accuracy of ΔSUV% with respect to response or non-progression at CT scan was evaluated by ROC analysis. Progression-free survival (PFS) was determined by Kaplan-Meier survival analysis, and between-group comparison was performed by log-rank test. Results After 1 month of EGFR-TKI treatment, 12 patients (55%) showed partial metabolic response (PMR), 6 (27%) had stable metabolic disease (SMD), and 4 (18%) had progressive metabolic disease (PMD). There was a moderate agreement(Kappa=0.506,P<0.05) between PET response at 1 month based on PERCIST recommendations and CT response at 3 months according to RECIST 1.1. Non-progression was significantly more frequent in patients with an early PMR (χ2=11.941, P=0.005). Progression had been confirmed later during therapy in all patients with PMD . By using ROC analysis, the area under the curve for prediction of response was 0.906 (95% CI, 0.766—1.000; P=0.002), corresponding to a sensitivity of 88.9% and specificity of 84.6% at a cut-off of 40.36% in ΔSUV%. Using a cut-off value of 25.84% in ΔSUV%, highΔSUV% group (ΔSUV% ≥ 25.84%) had significantly longer PFS than low ΔSUV% group (ΔSUV%<25.84%). Conclusion Early assessment of PET-CT at 1 month of EGFR-TKI treatment could be useful to predict tumor response and clinical outcome in patients with NSCLC.

0.05).?2-MG mass concentration was significantly increased in the cerebrospinal fluid(P

Objective To raise the awareness of adrenal Castleman′s disease by analyzing the clinical features and management of a patient with adrenal Castleman′s disease. Methods A case of adrenal Castleman′s disease of our hospital was retrospectively analyzed, including clinical feature, laboratory findings, pathology, treatment, and follow-up. All the data and pertinent literatures were reviewed and analyzed. Results An incidentaloma measuring 4. 8 cm × 6. 3 cm in the right adrenal gland was observed in a 30-year-old men in a ultrasonography examination performed due to a medical check-up. Laboratory analysis showed that the lesion was not hyperfunctioning. The patient subsequently underwent an exploratory laparotomy. Pathological examination revealed retroperitoneally localized Castleman′s disease of the hyaline vascular type. Conclusion Adrenal Castleman′s disease is a rare cause of lymph node hypertrophy, and it is necessary to keep in mind the possibility of its occurrence and take it into consideration in the differential diagnosis of any solitary, heterogeneous, and hypervascular retroperitoneal mass. The proper cooperation between the clinician and pathologist allows early diagnosis and suitable therapy.

OBJECTIVETo observe the effect of Chinese herbal extract HuNan A-1 (HNA-1) on the thymic output function in Simian immunodeficiency virus (SIV) chronically infected rhesus macaques.

METHODSEight Chinese rhesus macaques had been infected by SIVmac239 for 16 to 21 months, and then they were randomly divided into the treatment group and the control group, 4 in each group. Monkeys in the treatment group were administered with HNA-1 by gastrogavage, once daily for 2 successive months, while those in the control group were administered with equal volume of normal saline by gastrogavage, once daily for 2 successive months. The general condition and body weight of monkeys were observed. Plasma viral loads were detected using real-time fluorescent quantitative PCR assay. CD4 percentages and counts, as well as naive CD subsets were detected using flow cytometry. T-cell receptor excision circles (TREC) were detected using real-time fluorescent quantitative PCR assay. The thymus tissue was pathologically observed using routine HE staining. The correlation between lesions of the thymus tissue, CD4 counts, naive CD counts, and TREC were analyzed.

RESULTSThere was no statistical difference in body weight, viral loads, absolute CD ratios between the two groups after treatment (P > 0.05). The altered TREC multiple showed an obvious decreasing tendency in the control group, while it showed an increasing tendency in the treatment group (P < 0.05). In both groups, destroyed structures of the thymus tissue could be seen, filled with pink unstructured material. Increased connective tissues, lowered connective cell density, and confused arrangement could also be seen in the two groups, with no obvious difference. TREC contents were positively correlated with naive CD4 counts after removing extremum (r = 0.926, P = 0.001). Naive CD4 counts were positively correlated with CD4 counts (r = 0.961, P = 0.005).

CONCLUSIONSTREC content determination, as a marker of newly thymic emigrants, could be taken as a testing method for evaluating the thymic output function. Besides, HNA-1 treatment increased the thymic output significantly in SIV chronically infected monkeys. Correlation existed among TREC contents, naive CD4 counts, and pathologies of thymus tissues, especially in late infection stage.

Animals ; CD4 Lymphocyte Count ; Drugs, Chinese Herbal ; pharmacology ; Flow Cytometry ; Macaca mulatta ; Plant Extracts ; pharmacology ; Random Allocation ; Simian Acquired Immunodeficiency Syndrome ; drug therapy ; Simian Immunodeficiency Virus ; Thymus Gland ; drug effects ; Viral Load

AIM: To investigate whether Flk1~+ CD31~- CD34~- cells isolated from human adult adipose tissue have characteristics of hemangioblasts in vivo. METHODS: After sublethally irradiated (300cGy) with a caesium source, the female non-obese diabetic/severe combined immunodeficient (NOD/SCID) mice were injected with human adipose tissue-derived Flk1~+ CD31~- CD34~- cells (10~5 cells per mouse) via tail vain with 0.4 mL Roswell Park Memorial Institute medium (RPMI-1640). The control mice received the same volume of RPMI-1640 medium. All mice were killed 2 months after transplantation for further study. The differentiation potential of Flk1~+ CD31~- CD34~- cells was assessed in bone marrow and gastrointestinal tract by the methods of flow cytometry, RT-PCR, FISH, and triple-color immunofluorescence. RESULTS: Flk1~+ CD31~- CD34~- human adipose tissue-derived adult stem cells differentiated into endothelial cells and hematopoietic cells at the single-cell level in vivo. CONCLUSION: Human adult adipose tissue-derived Flk1~+ CD31~- CD34~- cells bear characteristics of hemangioblast in vivo and may have potential application for the treatment of hematopoietic and vascular diseases.

OBJECTIVETo attempt to visualize the endolymph in patients with Meniere's disease by applying non-invasive intratympanic gadolinium through eustachian tube and three-dimensional fluid-attenuated inversion recovery magnetic resonance imaging (3D-FLAIR MRI).

METHODSWith a 3 Tesla magnetic resonance imaging (MRI) unit, 3D-FLAIR imaging was performed 24 hours after intratympanic gadolinium through eustachian tube in two patients with medically active and intractable Meniere's disease. Pure tone test and tympanometry were performed 24 hours before and after the administration of gadolinium.

RESULTSThe gadolinium appeared in almost all parts of the perilymph inside the inner ear; moreover, the border between the perilymph and the endolymph was visible so endolymphatic space was clearly shown on 3D-FLAIR. No change in pure tone test and tympanometry was noted.

CONCLUSIONS3D-FLAIR MRI with intratympanic gadolinium through eustachian tube can clearly reveal the visualization of endolymph in patients with Meniere's disease. Intratympanic gadolinium therapy through eustachian tube is a safe and effective.

Adult ; Endolymph ; diagnostic imaging ; Female ; Humans ; Imaging, Three-Dimensional ; Magnetic Resonance Imaging ; Male ; Meniere Disease ; diagnostic imaging ; Middle Aged ; Radiography

Cardiac Catheterization ; Child ; Echocardiography, Three-Dimensional ; Heart Septal Defects ; diagnostic imaging ; Humans ; Prosthesis Implantation ; Time Factors

Objective To investigate the development,prevention and treatment of primary or secondary acute adrenal hypofunction with hyponatremia. Methods Forty-eight cases of acute adrenal hypofunction with hyponatremia from 1970 to 2006 were collected and divided into groups of hydrocephalus(n=23) and non-hydrocephalus(n=25).The causes,inducing factors,clinical manifestations,laboratory indexes,treatment and outcomes of the two groups were retrospectively analysed.In addition,another 48 patients with chronic adrenal hypofunction and 48 normal controls were included in the study. Results Infection constituted the most common inducing factor for the 48 cases of acute adrenal hypofunction with hyponatremia.Both natremia and urine cortisone were significantly lower in hydrocephalus and non-hydrocephalus patients than those in chronic adrenal hypofunction and controls(P