Amblyopia greatly affects the physical and mental development of children. Acupuncture is effective for amblyopia, though its mechanism remains unclear. This article summarized the mechanism of acupuncture treatment of amblyopia from the perspectives of morphology of neurons in visual cortex, visual electrophysiology, and molecular biology, etc. It was found that acupuncture may treat amblyopia through repairing the morphological and ultrastructural damages of neurons in visual cortex, promoting the electrical activities in visual pathway and visual cortical neurons, and modulating the synthesis and expression levels of factors involved in visual system. Nevertheless, further studies are required to unveil the mechanism of acupuncture treatment of amblyopia.

OBJECTIVETo characterize molecular and cytogenetic abnormalities in six 46, XX males, and to investigate the clinical manifestations and underlying mechanisms in such patients.

METHODSClinical data of six XX male patients were collected. Karyotyping, multiple polymerase chain reaction (PCR) and fluorescence in situ hybridization (FISH) were utilized to detect and locate the sex determining region (SRY) gene.

RESULTSPCR and FISH showed that all patients were SRY-positive XX males. All patients have their SRY gene located at the tip of derivative X chromosomes, which have resulted from translocation between short arms of X and Y chromosomes. High resolution karyotyping at 550-750 band level has revealed that the translocation breakpoints were at Xp22.33 and Yp11.2 in three patients. In the remaining patients, the breakpoints were either at Xp22.32 and Yp11.31 or Xp22.31 and Yp11.2. The breakpoints at Xp22.32, Xp22.31 and Yp11.31 were rarely reported. Genotype-phenotype correlation analysis indicated that the clinical manifestations were age-specific. Four adult patients have come to clinical attention due to infertility, with typical features including azoospermia and testis dysgenesis, whereas poorly developed secondary sexual characteristics and short stature were main complaints of adolescence patients, and short stature was the sole symptom in a child patient.

CONCLUSIONCombined karyotyping, PCR and FISH are important for the analysis of XX males. Particularly, high resolution karyotyping is valuable for the refinement of chromosome breakpoints and detailed analysis of genotype-phenotype correlation.

46, XX Disorders of Sex Development ; genetics ; Adolescent ; Adult ; Child, Preschool ; Chromosomes, Human, X ; Chromosomes, Human, Y ; Genetic Association Studies ; methods ; Humans ; Karyotyping ; methods ; Male ; Sex Chromosome Aberrations ; Translocation, Genetic ; Young Adult

OBJECTIVESTo evaluate the influence of thoracic kyphosis to sagittal alignment and balance of the lumbosacral vertebrae in thoracic adolescent idiopathic scoliosis patients.

METHODSStanding posteroanterior and lateral x-rays of a cohort of 55 patients with thoracic adolescent idiopathic scoliosis were obtained. The patients were classified according to their thoracic kyphosis, the first group TK < 10 degrees and the second group 10 degrees < or = TK < or = 40 degrees . The following parameters were measured: lumbar lordosis (LL), upper and lower arc of lumbar lordosis, sagittal vertical axis, sacral slope (SS), pelvic incidence (PI), pelvic tilt (PT). Sagittal plane parameters were analyzed using t-test between two groups, with significance set at P < 0.05. Linear correlations between parameters were calculated using Pearson correlation coefficients, with significance set at P < 0.01.

RESULTSThere were smaller LL and upper arc of lumbar lordosis in the first group. Significant linear correlations were found between each single adjacent shape parameter. Significant correlations were also found between TK, LL and upper arc of lumbar lordosis, as well as between PT, SS and PI.

CONCLUSIONSSagittal alignment and balance of the lumbosacral vertebrae may influence the thoracic kyphosis in AIS patients. The mechanism of this influence may through the adaptation of upper arc of lumbar lordosis. This influence must be considered in thoracic adolescent idiopathic scoliosis patients who undergo selective posterior thoracic fusion.

Adolescent ; Adult ; Female ; Humans ; Kyphosis ; complications ; pathology ; Lumbar Vertebrae ; diagnostic imaging ; pathology ; Male ; Radiography ; Sacrum ; diagnostic imaging ; pathology ; Scoliosis ; complications ; pathology ; Thoracic Vertebrae ; diagnostic imaging ; pathology

Objective:To observe the effect of acupuncture in regulating ubiquitin-proteasome pathway (UPP),and discuss the action of acupuncture in intervening heroin-induced brain damage.Methods:Thirty male Sprague-Dawley (SD) rats were divided into a control group,a model group and an acupuncture group by using the random number table.Rats in the model and acupuncture groups received intramuscular heroin injection for successive 8 d at a progressively increased dose.Afterwards,the injection was suspended for 5 d for withdrawal.The heroin relapse rat model was established by repeating the drug addiction and withdrawal process for 3 times.The control group followed the step of the model establishment,but was given intramuscular injection of normal saline at the stage of addiction and no intervention at the stage of withdrawal;the model group was given intramuscular heroin injection at a progressively increased dose at the addiction stage and no intervention at the withdrawal stage;the acupuncture group was dealt in the same way as the model group at the addiction stage,but received acupuncture at Baihui (GV 20) and Dazhui (GV 14) at the withdrawal stage,with the needles retained for 30 min each time,1 session a day,for successive 5 d.On the 39th day,brain tissues were extracted from the hippocampus and ventral tegmental area (VTA) of the three groups of rats.The apoptosis of brain nerve cells was detected by using terminal deoxynucleotidyl transferase-mediated nick and labeling (TUNEL).The mRNA and protein expressions of ubiquitin (Ub),ubiquitin protein ligase (E3) and 26S were examined by immunohistochemistry and quantitative real-time polymerase chain reaction (RT-qPCR).Results:Compared with the model group,rat's hippocampus and VTA in the acupuncture group showed significantly fewer cells positively stained by TUNEL staining (P＜0.01),and its mRNA and protein expressions of Ub,E3,26S were significantly lower (P＜0.01).Conclusion:Reducing nerve cell apoptosis and regulating the mRNA and protein expressions of Ub,E3 and 26S in rat's hippocampus and VTA are possibly one of the action mechanisms of acupuncture in intervening heroin-induced brain damage.

OBJECTIVE To investigate the effect of diallyl sulfide (DAS) in protection against acute lung injury in rats induced by paraquat(PQ). METHODS A total of 100 male Wistar rats were randomly divided into normal control group,PQ 70 mg·kg-1 model group,and DAS 25,50 and 100 mg·kg-1 treatment groups,with 20 rats in each group. A poisoning model was estalolished after administration ig at a single dose of PQ 70 mg·kg-1,while the normal control group was ip given the same volume of normal saline. DAS 25,50 and 100 mg · kg-1 was intraperitoneally injected 30 min before and after PQ exposure. Five rats in each group were sacrificed at 1,3,6 and 12 h,respectively. The inferior lobe of the right lung was observed by HE staining under an optical microscope. Tissue of the upper lobe of the right lung was used to detect the content of nitric oxide (NO). Alveolar macrophages (AMs) were collected and cultured for 24 h,and the content of nitric oxide synthase(iNOS)in the supernatant was detected. AMs were cultured for 72 h and the expression of iNOS protein in AMs was detected by immunocytochemistry method. RESULTS Compared with normal control group,the alveolar structure of PQ group was severely damaged and the pathological score was significantly increased(P<0.01). The NO content of PQ group was significantly higher than in normal control group(P<0.01). The content and protein expression of iNOS were significantly increased in PQ group(P<0.01). Compared with PQ group,the lung injury score of rats in DAS 50 mg·kg-1 group at 3,6 and 12 h and in the DAS 100 mg·kg-1 group at each time point was decreased(P<0.05). Compared with PQ group,the NO content of DAS 25 and 50 mg · kg-1 group was decreased(P<0.05),and the NO content of DAS 100 mg · kg-1 group was significantly reduced(P<0.01). The content of iNOS was reduced in DAS 100 mg · kg-1 group(P<0.05). Compared with PQ group,the expression of iNOS protein in DAS groups was decreased(P<0.05). CONCLUSION DAS can inhibit the oxidative damage in rats induced by PQ.

OBJECTIVETo investigate the impairment pattern and the influencing factors of pulmonary function in patients with Marfan and Marfanoid syndrome associated scoliosis (MS).

METHODSIn this retrospective study, totally 25 MS patients (aged 11 - 20 years, 11 boys and 14 girls) who received posterior instrumentation and fusion (Group A) and 38 adolescent idiopathic scoliosis (AIS) patients (Group B) (aged 10 - 19 years, 11 boys and 27 girls) were included from February 1998 to September 2007. The curve pattern was matched in both groups. The preoperative pulmonary function test (PFTs) were compared in two groups. And the parameters influencing the preoperative pulmonary function were analyzed in group A.

RESULTSIn Group A, the Cobb angle of thoracic curve was negatively correlated with the percentage of predicted pulmonary volumes (VC%, FVC% and FEV1%) (r = -0.514, -0.503, -0.464, P < 0.05). And the reduction of lung function parameters (VC%, FVC%, FEV1% and MMEF%) was more severe in Group A than in Group B with compared magnitude of thoracic curve (P < 0.05). In Group A, the extent of impairment of pulmonary function in patients with the number of vertebrae involved ≥ 8 were more severe than those involved < 8 vertebrae (P < 0.05). However, there was no significant difference of deterioration of lung function between the higher apex (T₄₋₈) subgroup and lower apex (T₉₋₁₂) subgroup. And no correlation was found between thoracic kyphosis and the degrees of impairment of respiration function.

CONCLUSIONSPatients with MS have mixed ventilation dysfunction, which is more severe than AIS patients with matched age and Cobb angle. The pulmonary dysfunction in MS patients can be influenced by the severity of thoracic curve and the number of involved vertebrae.

Adolescent ; Child ; Female ; Humans ; Lung ; physiopathology ; Male ; Marfan Syndrome ; complications ; physiopathology ; Respiratory Function Tests ; Retrospective Studies ; Scoliosis ; complications ; physiopathology ; Young Adult

OBJECTIVETo analyze the influence of thoracic kyphosis on the sagittal compensatory mode of the spine in idiopathic thoracic scoliosis after the selective thoracic fusion.

METHODSNinety AIS patients (mean age 14.5 years old) who received selective thoracic fusion from February 1999 to December 2005 in one institution with at least 24-month follow-up were evaluated. Forty-one patients underwent anterior spinal fusion and forty-nine patients underwent posterior spinal fusion. And then the patients were divided into two subgroups according to the magnitude of preoperative thoracic kyphosis (TK): Group A, TK less than 10 degrees ; and Group B, TK more than 10 degrees . The radiological parameters were measured including: thoracic and lumbar curve magnitude, TK, lumbar lordosis (LL), thoracolumbar junction kyphosis (T(10)-L(2), TJK), distal junctional kyphosis (DJK), sagittal vertical axis (SVA).

RESULTSAt final follow-up, TK, TJK and DJK increased significantly compared with preoperative Cobb angle in subgroup A patients who underwent anterior spinal fusion (P < 0.05). Generally, there was a lordosis loss of TJK and DJK during follow-up. While in subgroup B, TJK at final follow-up increased apparently compared with preoperative Cobb angle (P < 0.05). And there was a increased trend of DJK in spite of no significant difference, however, there was no obvious change of TK in subgroup B. At the final follow-up, TK and TJK increased significantly in subgroup A patients who underwent posterior spinal fusion (P < 0.05). And there was a increased tendency of DJK during follow-up, although there was no significant difference. And there was no obvious change of TK, TJK and DJK in subgroup B. There was a increased trend of LL in spite of no significant difference in group A patients who underwent anterior or posterior spinal fusion. The sagittal balance maintained well during follow-up in both groups.

CONCLUSIONSFor AIS patients with thoracic hypokyphosis, normal TK and LL could be achieved during follow-up with selective thoracic instrumentation. However, the increase of DJK and TJK may occur during the follow-up, and the risk factors may be the anterior short segmental fusion and the reconstruction of the sagittal profile in the hypokyphosis patients.

Adolescent ; Child ; Female ; Follow-Up Studies ; Humans ; Lumbar Vertebrae ; pathology ; Male ; Perioperative Period ; Retrospective Studies ; Scoliosis ; pathology ; surgery ; Spinal Fusion ; methods ; Thoracic Vertebrae ; pathology ; surgery

BACKGROUNDInsulin resistance is an underlying feature of both type 2 diabetes and metabolic syndrome. Currently, it is unclear whether nuclear factor (NF)-κB inducing kinase (NIK) plays a role in the development of insulin resistance. The present in vivo study investigated the roles of NIK and IκB kinase α (IKKα) in obesity-induced insulin resistance using animal models.

METHODSNIK expression was evaluated by Western blotting in male Lep(ob) mice and C57BL/6J mice fed a high-fat diet (HFD) (45% fat). After metformin and sulfasalazine treatment, NIK expression was investigated during the improvement of insulin resistance.

RESULTSNIK was increased by about 1-fold in the renal tissues of Lep(ob) mice and C57BL/6J mice fed a HFD for 12 weeks. After 1 and 3 weeks of high-fat feeding, we observed an almost 50% decrease in NIK and IKKα expression in the liver and renal tissues of C57BL/6J mice. NIK expression was significantly lower in the liver and renal tissues of HFD-fed mice that were treated with insulin sensitizers, metformin and sulfasalazine. However, IKKα expression was increased after metformin treatment in both tissues.

CONCLUSIONThese results suggest a possible role of NIK in the liver and renal tissues of insulin-resistant mice.

Animals ; Blotting, Western ; Body Weight ; physiology ; Fasting ; blood ; Glucose Tolerance Test ; I-kappa B Kinase ; metabolism ; Insulin ; blood ; Insulin Resistance ; physiology ; Kidney ; metabolism ; Liver ; metabolism ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Obese ; Protein-Serine-Threonine Kinases ; metabolism

PURPOSE: Five members of the zinc finger of the cerebellum (ZIC) family—ZIC1, ZIC2, ZIC3, ZIC4, and ZIC5—have been shown to be involved in various carcinomas. Here, we aimed to explore the clinicopathologic and prognostic roles of ZIC family members in invasive breast cancer patients using immunohistochemical analysis, western blotting analysis, and real-time quantitative polymerase chain reaction (RT-qPCR). METHODS: A total of 241 female invasive breast cancer patients who underwent radical mastectomy between 2009 and 2011 were enrolled. ZIC proteins in 241 pairs of breast tumors and corresponding normal tissues were investigated using immunohistochemistry and the clinicopathologic roles of proteins were analyzed using Pearson's chi-square test. Kaplan-Meier curves and Cox regression analysis were also used to analyze the prognostic value of the ZIC proteins. In addition, 12 pairs of fresh-frozen breast tumors and matched normal tissues were used in the western blotting analysis and RT-qPCR. RESULTS: Only ZIC1 expression in normal tissues was obviously higher than that in tumors (p < 0.001). On multivariate analysis, ZIC1 expression (in overall survival analysis: hazard ratio [HR], 0.405, 95% confidence interval [CI], 0.233–0.702, p=0.001; in disease-free survival analysis: HR, 0.395, 95% CI, 0.234–0.669, p=0.001) was identified as a prognostic indicator of invasive breast cancer. CONCLUSION: ZIC1, but not the other proteins, was obviously decreased in breast tumors and associated with clinicopathologic factors. Thus, ZIC1 might be a novel indicator to predict the overall and disease-free survival of invasive breast cancer patients.
Blotting, Western ; Breast Neoplasms* ; Breast* ; Cerebellum* ; Disease-Free Survival ; Female ; Humans ; Immunohistochemistry ; Mastectomy, Radical ; Multivariate Analysis ; Pathology ; Polymerase Chain Reaction ; Prognosis ; Zinc Fingers* ; Zinc*

OBJECTIVE: To explore the genetic cause for a patient with intellectual disability, short stature and multiple congenital anomalies, and to correlate the result with the clinical phenotype. METHODS: Routine karyotyping analysis was carried out on GTG-banded metaphase chromosomes. Single nucleotide polymorphism (SNP) microarray was used to detect microdeletions or microduplications in the patient. Fluorescence in situ hybridization (FISH) was used to ascertain the origin of aberrant chromosomes. RESULTS: The karyotype of the patient was 46,XY,der(18), while both of his parents had a normal karyotype. SNP array identified a 1.23 Mb deletion at 18p11.32-pter (chr18: 136 227-1 370 501, hg19) and a 33.76 Mb duplication at 18q21.1-qter (chr18: 44 250 359-78 013 728, hg19) in the patient. Above finding was confirmed by dual-color FISH with one color for 18p and another for 18q. The patient presented with some common features of 18p deletion and 18q duplication including intellectual disability and growth retardation, in addition with some features of 18p deletion including pectus excavatum, short stature and growth hormone (GH) deficiency. The patient showed progressive improvement of stature with GH therapy. Comparison of patients with previously reported dup(18q)+del(18p) recombinations suggested that, even for patients with similar breakpoints, their phenotypes have ranged from normal to severe and there were no consistent findings. CONCLUSION As aberrations involving double chromosomal segments often result in phenotypic variability, it has been difficult to correlate the genotype of our patient with his phenotype.
Abnormalities, Multiple ; Chromosome Deletion ; Chromosomes, Human, Pair 18 ; Genotype ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Monosomy ; Phenotype ; Trisomy