Infantile neuroaxonal dystrophy (INAD) is a rare autosome-recessive disease characterized by progressive motor and cognitive regression.The PLA2G6 gene is its causative gene,which encodes calcium-independent phospholipase A2 enzyme (iPLA2-VIA).The diagnosis of INAD is difficult because of its clinical heterogeneity,and the rate of misdiagnosis is high.The purpose of this study is to describe the clinical characteristics,molecular genetics,treatment and prognosis of INAD to improve the acknowledgement of INAD in medical workers and to help make an early diagnosis of INAD.

This study was conducted to investigate the paclitaxel loaded by hydrazone bonds in poly(ethylene glycol)-poly(caprolactone) micelles (mPEG-PCL-PTX) on proliferation and apoptosis of human lung cancer A549 cells and its possible mechanisms of anti-tumor activity. The cell proliferation was measured with MTT assay. Flow cytometry were used to analyze the cell cycle. The cell apoptosis was analyzed using Hoechst/P staining. The expression levels of apoptotic genes expression in the mitochondrial apoptosis pathway were detected by RT-PCR and Western blotting, respectively. The mPEG-PCL-PTX could inhibit the proliferation of A549 cells and promote the apoptosis. The Bax, caspase-3 protein expression were increased while Bcl-2 protein expression was decreased in A549 cells. Results showed that the polymer containing hydrazone bond is non-toxic in vitro, the mPEG-PCL-PTX micelles can inhibit the proliferation and induce the apoptosis of A549 cells. Key words: paclitaxel; micelle; A549 cell; proliferation; cell cycle; apoptosis
Apoptosis ; Caspase 3 ; metabolism ; Cell Line, Tumor ; drug effects ; Cell Proliferation ; Humans ; Lung Neoplasms ; metabolism ; pathology ; Micelles ; Paclitaxel ; pharmacology ; Polyesters ; Polyethylene Glycols ; Proto-Oncogene Proteins c-bcl-2 ; metabolism ; bcl-2-Associated X Protein ; metabolism

OBJECTIVETo investigate the expression of corticosteroids and regional expression 16 (CR16) in the testis of patients with idiopathic azoospermia and the role of CR16 in spermatogenesis.

METHODSImmunohistochemistry and RT-PCR were used to detect the expression levels of the CR16 protein and mRNA in the testes of 48 patients with idiopathic azoospermia and 10 healthy men.

RESULTSImmunohistochemistry showed that the CR16 protein expressed in the Sertoli cells and spermatids-binding region in the epithelium of seminiferous tubules. The level of the CR16 protein was markedly lower in the idiopathic azoospermia patients than in the healthy men, and RT-PCR also showed a significantly decreased level of CR16 mRNA in the testis of the patients.

CONCLUSIONThe expressions of the CR16 protein and mRNA decrease markedly in the testis of patients with idiopathic azoospermia, indicating a correlation with the pathogenesis of azoospermia.

Adult ; Azoospermia ; metabolism ; pathology ; Case-Control Studies ; Cytoskeletal Proteins ; metabolism ; Humans ; Male ; Testis ; metabolism ; pathology

Base Sequence ; Formaldehyde ; chemistry ; Humans ; Molecular Sequence Data ; Oncogene Proteins, Fusion ; genetics ; Paraffin Embedding ; Proto-Oncogene Protein c-fli-1 ; genetics ; RNA, Neoplasm ; genetics ; metabolism ; RNA-Binding Protein EWS ; Reverse Transcriptase Polymerase Chain Reaction ; methods ; Rhabdomyosarcoma ; genetics ; Sarcoma, Ewing ; genetics ; Sarcoma, Synovial ; genetics ; Soft Tissue Neoplasms ; genetics ; Tissue Fixation

This study investigated the changes in human umbilical vein endothelial cells (HUVECs) induced by overexpression of endothelial nitric oxide synthase traffic inducer (NOSTRIN) and its role in cellular injury. Recombinant NOSTRIN-expressing and empty vectors were transfected into cultured HUVECs, and factor VIII-related antigen was examined by using immunohistochemical analysis. Growth curves were generated for both transfected and untransfected cells and these indicated that the proliferative ability of cells overexpressing NOSTRIN was significantly decreased. The expression of NOSTRIN and eNOS proteins was detected by using Western blot analysis, endothelial NOS (eNOS) activity was assayed by using spectrophotometry, and NO2 (-)/NO3 (-) levels were measured using nitrate reductase. Immunohistochemical analysis demonstrated that all groups expressed NOSTRIN in the plasma membrane and cytoplasm, and Western blot analysis confirmed that NOSTRIN levels were significantly higher in cells transfected with the NOSTRIN plasmid (P<0.01). The activity of eNOS and the levels of NO2 (-)/NO3 (-) were significantly decreased in NOSTRIN overexpressing cells as compared with empty vector and untransfected cells (P<0.01 and P<0.01, respectively). Morphological and ultrastructural changes were observed under light and electron microscopy, and it was found that NOSTRIN-overexpressing cells were elongated with deformities of the karyotheca, injury to the plasma membrane, increased lipids in the cytoplasm, and shortened microvilli. This study showed that overexpression of NOSTRIN had a significant effect on eNOS activity in HUVECs and resulted in significant cellular damage.
Apoptosis ; physiology ; Cell Line ; Cell Proliferation ; Cell Survival ; physiology ; Endothelial Cells ; pathology ; physiology ; Humans ; Intracellular Signaling Peptides and Proteins ; metabolism ; Nitric Oxide ; metabolism ; Nitric Oxide Synthase Type III ; metabolism ; Umbilical Veins ; metabolism ; pathology ; Up-Regulation

OBJECTIVETo compare the differences in the efficacy on traumatic spinal cord injury(SCI) in the thoracic and lumbar vertebra between the paraplegia-triple-needling method and the conventional acupuncture therapy.

METHODSThe perspectively randomized controlled trial was adopted. Forty-eight cases of traumatic SCI in the thoracic and lumbar vertebra were randomized into an observation group and a control group, 24 cases in each one. The conventional rehabilitation training was applied in both groups. In addition, the paraplegia-triple-needling method was used in the observation group. In the treatment, acupuncture was applied to the points of the Governor Vessel and the Back-shu which, located two segments above and below the spinal injury plane separately. Acupuncture with the electric pulsing stimulation was applied to the motor points of the key muscles of the lower extremities. In the control group, the conventional acupuncture was applied to Huantiao (GB 30), Zusanli (ST 36), Xuanzhong (GB 39) and Sanyinjiao (SP 6). In each group, the treatment was given once a day, one month treatment made 1 session. Totally, 3 sessions of treatment were required. Before and after treatment, as well as in 1-month follow-up visit after treatment, the modified Barthel index (MBI) and the function comprehensive assessment (FCA) were adopted to assess the activities of daily life (ADL) and the comprehensive function of the patients. The score of MBI and FCA were taken as the double response variables to imitate the multilevel model. The changing tendency of MBI and FCA along with the time was observed in two groups.

RESULTSIn the follow-up visit, MBI and FCA score were all improved as compared with those before treatment in two groups (all P < 0.05). There were no statistically significant differences in MBI and FCA score at any time point between two groups (all P > 0.05). In 4-month observation, there was a rising tendency with time in MBI and FAC scoe in both groups, which was roughly linear. As time went on, the increasing amplitude in the observation group was much bigger. It was explained that there was no difference in the short-term efficacy between two groups. However, the long-term efficacy in the observation group was much better.

CONCLUSIONBoth the paraplegia-triple-needling method and the conventional acupuncture therapy can improve the ADL and the comprehensive function of the patients with traumatic SCI of the thoracic and lumbar vertebra. Concerning the long-term efficacy, the paraplegia-triple-needling combined with the rehabilitation training achieves better result. This therapeutic program is safe and effective.

Activities of Daily Living ; Acupuncture Therapy ; Adolescent ; Adult ; Aged ; Female ; Humans ; Male ; Middle Aged ; Needles ; Spinal Cord Injuries ; rehabilitation ; therapy ; Young Adult

OBJECTIVETo detect over-expression of AChR-gamma mRNA in rhabdomyosarcoma tissues by duplex RT-PCR and discuss its potential in diagnosis of rhabdomyosarcoma.

METHODSDuplex RT-PCR was applied to the simultaneous detection of AChR-alpha and gamma subunit messenger RNA in 17 cases of rhabdomyosarcoma (9 ERMS, 6 ARMS, 2 PRMS). 20 cases of non-rhabdomyosarcomous small round cell tumors (6 poorly differentiated synovial sarcomas, 6 ES/PNET, 6 lymphomas, 2 neuroblastomas) and three normal muscle samples were also detected for AChR-alpha and gamma mRNA by the same method.

RESULTSAChR-alpha and AChR-gamma mRNA were expressed in all the cases of rhabdomyosarcoma. The rate of quantity in both transcripts was AChR-gamma/AChR-alpha >or= 1, but the rate for three normal muscle samples was < 1. Cases of non-rhabdomyosarcomous small round cell tumors were all negative for AChR-gamma.

CONCLUSIONAChR-gamma mRNA expression detected by molecular genetic methods is useful in diagnosis and differential diagnosis of rhabdomyosarcoma.

Diagnosis, Differential ; Humans ; Protein Subunits ; RNA, Messenger ; analysis ; Receptors, Cholinergic ; genetics ; Receptors, Nicotinic ; genetics ; Reverse Transcriptase Polymerase Chain Reaction ; Rhabdomyosarcoma ; diagnosis

OBJECTIVETo study the clinicopathologic features and immunophenotype of renal cell carcinomas, and to discuss their diagnostic value.

METHODSThe clinicopathologic features of 114 cases of renal cell carcinoma were reviewed and categorized on the basis of 2004 WHO classification. Immunohistochemical study for a panel of antibodies (including CK, CD10, vimentin, CD117, AMACR, CK7 and TFE3) was carried out. The follow-up data, if available, were also analyzed.

RESULTSThe cases were reclassified into 5 subtypes, including 77 cases (67.5%) of clear cell carcinoma (CCRCC), 11 cases (9.6%) of papillary renal cell carcinoma (PRCC), 14 cases (12.3%) of chromophobe renal cell carcinoma (chrRCC), 10 cases (8.8%) of renal carcinoma associated with Xp11.2 translocations/TFE3 gene fusions (Xp11.2RCC) and 2 cases (1.8%) of unclassified renal cell carcinoma (unRCC). Immunohistochemical study showed that the expression rates of CK, CD10 and vimentin in CCRCC were 93.5% (72/77), 93.5% (72/77) and 75.3% (58/77), respectively. On the other hand, all the 11 cases of PRCC studied were positive for AMACR. The expression rate of CD117 in chrRCC was 78.5% (11/14). In the 10 cases of Xp11.2 RCC studied, the expression rates of TFE3, AMACR, CD10 and CK were 100% (10/10), 100% (10/10), 90% (9/10) and 70% (7/10), respectively.

CONCLUSIONSThe various subtypes of renal cell carcinomas are heterogeneous in histologic appearance and demonstrate distinctive immunophenotype. The expressions of CD10, vimentin, CD117, AMACR, CK7 and TFE3 are helpful in the differential diagnosis.

Adenocarcinoma, Clear Cell ; pathology ; Adolescent ; Adult ; Aged ; Aged, 80 and over ; Basic Helix-Loop-Helix Leucine Zipper Transcription Factors ; genetics ; immunology ; metabolism ; Biomarkers, Tumor ; analysis ; genetics ; Carcinoma, Papillary ; immunology ; pathology ; Carcinoma, Renal Cell ; immunology ; metabolism ; pathology ; Female ; Gene Fusion ; Humans ; Immunophenotyping ; Kidney Neoplasms ; immunology ; metabolism ; pathology ; Male ; Middle Aged ; Neprilysin ; analysis ; Racemases and Epimerases ; analysis ; genetics ; Translocation, Genetic ; Vimentin ; analysis ; World Health Organization ; Young Adult

OBJECTIVETo investigate the significance of detecting chimeric mRNA resulting from t(X;17)(p11.2;q25) in paraffin-embedded tumor tissues of alveolar soft part sarcoma (ASPS).

METHODSFormalin-fixed, paraffin-embedded tumor tissues from 8 cases of alveolar soft part sarcoma and 15 cases of controls (including 6 alveolar rhabdomyosarcomas, 6 renal cell carcinomas, 2 paragangliomas and 1 granular cell myoblastoma) were retrieved from the archival materials. ASPL-TFE3 fusion transcripts were analyzed in all samples by reverse transcriptase-polymerase chain reaction (RT-PCR). The quality of the mRNA was assessed using the house-keeping gene beta-actin.

RESULTSASPL-TFE3 fusion transcripts were detected in 6 of the 8 ASPS cases (4 being type 2 and 2 being type 1). The remaining 2 cases were negative for both beta-actin and ASPL-TFE3. No ASPL-TFE3 mRNA expression was detected in all the controls. PAX3/7-FKHR fusion transcripts were also detected in 4 of the 6 alveolar rhabdomyosarcoma samples.

CONCLUSIONSThe expression of ASPL-TFE3 fusion transcripts in paraffin-embedded tumor tissues can serve as an useful molecular marker in the diagnosis of ASPS. It may also be helpful in elucidating the underlying pathogenesis of ASPS in subsequent retrospective studies.

Adolescent ; Adult ; Basic Helix-Loop-Helix Leucine Zipper Transcription Factors ; biosynthesis ; genetics ; Child ; Child, Preschool ; Chromosomes, Human, Pair 17 ; genetics ; Chromosomes, Human, X ; Female ; Humans ; Leg ; Male ; Neoplasm Proteins ; biosynthesis ; genetics ; Oncogene Fusion ; Oncogene Proteins, Fusion ; biosynthesis ; genetics ; Orbit ; Paraffin Embedding ; RNA, Messenger ; biosynthesis ; genetics ; Reverse Transcriptase Polymerase Chain Reaction ; Sarcoma, Alveolar Soft Part ; genetics ; metabolism ; pathology ; Soft Tissue Neoplasms ; genetics ; metabolism ; pathology ; Translocation, Genetic

OBJECTIVETo study the potential risk factors of human infecting with Streptococcus suis.

METHODS1: M matched case-control study was conducted. 29 human cases of Streptococcus suis infection in the early phase were included in the case group, Patients' family members, neighbors and peoples who had worked together with patients to handle deceased or sick pigs in the last week were recruited as matched controls. There were 147 controls in total. Both cases and controls received questionnaire investigation including the ways to contact sick/dead pigs. Conditional logistic regression was employed to analyze matching data.

RESULTSAccording to the results of multivariate analysis, slaughtering (OR = 11.978, 95% CI: 3.355-42.756), carcasses cutting and processing (OR = 3.008, 95% CI: 1.022-8.849) sick/dead pigs were associated with cases related to human Streptococcus suis infection. The attributable risk proportion were 91.65% and 66.76% respectively. The other types of exposures to sick/ dead pigs, including feeding, selling, burying and eating, were not associated with the human Streptococcus suis infection in our study population.

CONCLUSIONSlaughtering, carcasses cutting and processing sick/dead pigs were important risky behavior for humans to be infected by Streptococcus suis.

Adult ; Aged ; Case-Control Studies ; China ; epidemiology ; Female ; Humans ; Male ; Middle Aged ; Multivariate Analysis ; Occupational Exposure ; adverse effects ; statistics & numerical data ; Risk Factors ; Streptococcal Infections ; epidemiology ; etiology ; microbiology ; Streptococcus suis ; physiology