Abnormalities, Multiple ; genetics ; metabolism ; pathology ; surgery ; Actins ; metabolism ; Adolescent ; Chromosome Inversion ; Chromosomes, Human, Y ; Diagnosis, Differential ; Disorders of Sex Development ; genetics ; pathology ; Humans ; Hypospadias ; pathology ; surgery ; Male ; Mullerian Ducts ; abnormalities ; metabolism ; pathology ; surgery ; Neprilysin ; metabolism ; Proto-Oncogene Proteins c-bcl-2 ; metabolism ; Receptors, Estrogen ; metabolism ; Receptors, Progesterone ; metabolism ; Syndrome

OBJECTIVETo investigate the expression of Fas/FasL in infantile hemangiomas and discuss the role of Fas/FasL in the pathologic evolution of infantile hemangioma.

METHODThe EnVision immunohistochemical stain and RT-PCR technique was used to examine the expression of Fas/FasL protein and mRNA in the infantile hemangiomas.

RESULTS(1) In the early and middle proliferating stage, a number of infantile hemangioma cells expressed Fas. In the late proliferating stage, the number of positive cells increased obviously and the expression of Fas mRNA was reaching the strongest level. In the early regressing stage the Fas still existed in some cells and after that the expression decreased quickly. (2) Up to the middle proliferating stage, there were a few of FasL(+) cells foound. In the late proliferating stage, the number of FasL(+) cells increased significantly. From the early regressing stage, the number of FasL(+) cells decreased rapidly and disappeared.

CONCLUSIONThere may exist significant correlation between the expression of Fas/FasL and the development of the infantile hemangioma cells. The apoptosis of the infantile hemangioma cells mediated by Fas/ FasL may be the major reason of the spontaneous involution of infantile hemangioma.

Apoptosis ; Child ; Child, Preschool ; Fas Ligand Protein ; metabolism ; Hemangioma ; metabolism ; pathology ; Humans ; Hyperplasia ; Infant ; RNA, Messenger ; metabolism ; Signal Transduction ; fas Receptor ; metabolism

OBJECTIVETo identify the candidate genes within the putative susceptibility locus for systemic lupus erythematosus (SLE) at 12p12.3-13.2.

METHODSKLRC1 was selected as the candidate gene according to the results of previous gene chip studies. TaqMan real-time quantitative PCR was performed for detecting KLRC1 mRNA expression in 55 SLE patients and 30 controls.

RESULTS AND CONCLUSIONKLRC1 mRNA expression was significantly higher in the mononuclear cells and T cells of SLE patients than in the healthy controls (P<0.01), but showed no significant difference in the B cells. No obvious correlation was found between the SLE disease activity index (SLEDAI) and KLRC1expression level, suggesting that KLRC1 can be a probable candidate gene for SLE on 12p12.3-13.2, but which is not associated with the disease activity.

Adolescent ; Adult ; Asian Continental Ancestry Group ; genetics ; China ; Chromosomes, Human, Pair 12 ; genetics ; Female ; Gene Expression Profiling ; Genetic Predisposition to Disease ; Humans ; Lupus Erythematosus, Systemic ; ethnology ; genetics ; pathology ; Male ; Middle Aged ; NK Cell Lectin-Like Receptor Subfamily C ; genetics ; Reverse Transcriptase Polymerase Chain Reaction ; Severity of Illness Index ; Young Adult

OBJECTIVETo ascertain the karyotype of a girl with moderate mental retardation and growth retardation, perform correlation analysis between chromosomal variation and phenotype, and investigate the application and superiority of array-based comparative genomic hybridization (array-CGH) in clinical cytogenetic diagnosis.

METHODSG-banded chromosome analysis, array-CGH, fluorescence in situ hybridization (FISH) and real-time quantitative PCR (RQ-PCR) were used to ascertain the karyotype of the patient and her relatives.

RESULTSG-banding analysis of the patient showed a derivative chromosome 10 with an extra fragment on its long arm terminal, both her father and grandmother had an apparently balanced translocation t(4;10)(q25;q26). Array-CGH revealed that the breakpoint on chromosome 4 was located at 4q26. In addition, a microdeletion of about 0.54 Mb del(10)(q26.3) was identified from the patient. FISH and RQ-PCR confirmed that the del(10)(q26.3) was also present in both her father and grandmother.

CONCLUSIONNo recognizable phenotype was associated with del(10)(q26.3). The abnormal phenotypes presented in the patient may be ascribed to the 4q26-q35.2 triplication. Further more, compared with conventional cytogenetic analysis, array-CGH is of high resolution and high accuracy.

Child, Preschool ; Chromosome Deletion ; Chromosomes, Human, Pair 10 ; genetics ; Chromosomes, Human, Pair 4 ; genetics ; Comparative Genomic Hybridization ; Cytogenetic Analysis ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Intellectual Disability ; genetics ; Karyotyping ; Male ; Phenotype ; Polymerase Chain Reaction ; Trisomy ; genetics

Objective To introduce the technique of interictal 18F-fluorodeoxyglucose positron emission tomography (18F-FDG-PET) examination and explore the value of 18F-FDG-PET in the localization of epileptogenic focus of temporal lobe epilepsy (TLE) confirmed by surgical result.Methods Clinical data were retrospectively analyzed in 82 TLE patients having received interictal 18F-FDG-PET preoperative evaluation and got EngleⅠ grade epileptic surgical outcome, and the sensitivity and specialty of interictal 18F-FDG-PET were compared with those of MRI and scalp video-EEG. Results Epileptogenic foci showed hypometabolism on 18F-FDG-PET, and the hypometabolism zones were localized in ipsilateral temporal lobe in 68 cases,beyond ipsilateral temporal lobe in 9 cases; the other 5 had no hypometabolism zone. Accuracy rate of localization of epileptogenic foci by interictal 18F-FDG-PET was 82.9% (68/82), significantly higher than that by MRI or EEG(P＜0.05).77.4%(41/53)epileptogenic foci where MRI showed negative and 75%(15/20)where EEG with imbedded electrode was applied were precisely localized by 18F-FDG-PET. The accuracy was higher in the cases with positive pathological result than in the ones with negative result. Conclusions Interictal 18F-FDG-PET possesses excellent sensitivity and specialty in preopemtive assessment for TLE, and is of good value in the localization of epileptogenic focus where MRI shows negative or invasive electrophysiologic monitoring is needed.Rational application may raise the accuracy rate.

Objectives: The present first-in-human study aimed to assess the feasibility of percutaneous balloon mitral valvuloplasty (PBMV) for the treatment of isolated mitral stenosis (MS) under echocardiography guidance only. Methods: Data were obtained from 24 consecutive patients with severe MS, who underwent PBMV from October 2016 to October 2017 under the guidance of echocardiography only. Outpatient follow-up including chest radiography, electrocardiography, and transthoracic echocardiography was conducted at 1, 3, 6 and 12 months post procedure. Results: PBMV was successful in all 24 patients under echocardiography guidance without radiation and contrast agent. Mitral transvalvular pressure gradient derived invasive catheterization measurement dropped from(15.0±5.1) mmHg to (6.7±2.9) mmHg (P<0.01). Mitral valve area increased from (0.8±0.1) cm2at pre-PBMV to (1.7±0.1) cm2post-PBMV (P<0.01). Mean balloon diameter was (26.7±1.2) mm. Mild mitral regurgitation developed in 8 patients. Mean follow-up duration was (7.4±3.1) months. At the last follow-up, mitral valve area remained high (1.6±0.1) cm2and mean transmitral pressure gradient remained low (9.0±4.3) mmHg. No pericardial effusion or peripheral vascular complications occurred. Conclusions: In this patient cohort, PBMV could be successfully performed with echocardiography as the single imaging guidance modality, this procedure is safe and effective and avoids the radiation exposure and contrast agent use.