X-box binding protein 1 (XBP1) C--116G polymorphisms in bipolar disorders and age of onset

X-box binding protein 1 (XBP1), a critical gene in the endoplasmic reticulum stress response, is located on chromosome 22q12, which has been linked with bipolar disorders in several studies. Recently, associations have been reported between a polymorphism (-116C --> G) in the promoter region of XBP1, and bipolar disorders in both case-control study and family-based association study, however, this finding is not yet confirmed by other research using independent sample populations. To replicate this finding and determine the association between onset age of bipolar disorders and the XBP1 C--116G polymorphism, we investigated the prevalence of this polymorphism in a Chinese population (153 bipolar disorder patients and 174 controls). We were unable, however, to demonstrate a significant association between the C--116G polymorphism and bipolar disorders (P = 0.674 for genotype and P = 0.436 for allele frequency) or age at onset (P = 0.563). Further, no association was demonstrated between this polymorphism and family history in bipolar disorder patients. These negative findings suggest that the XBP1 C--116G polymorphism does not play a major role in the pathogenesis of bipolar disorders in Chinese populations.     

Comparison of serum specific IgE antibodies to staphylococcal enterotoxins between atopic children with and without atopic dermatitis

BACKGROUND: The skin of patients with atopic dermatitis (AD) exhibits a striking susceptibility to colonization and infection by Staphylococcus aureus. The exotoxins secreted by S. aureus can act as superantigens and classic allergens, inducing the production of functionally relevant specific IgE antibodies. The aim of this study was to compare the levels and positive rates of serum staphylococcal enterotoxin A (SEA)- and staphylococcal enterotoxin B (SEB)-specific IgE between atopic children with and without AD. METHODS: Sixty children with AD, 55 children with respiratory allergy without AD, and 24 nonatopic healthy children were studied. The levels and positive rates of serum SEA- and SEB-specific IgE were compared among three groups. The correlation between the levels or positive rates of serum SEA/SEB-specific IgE and the severity of AD or the presence of previous skin infections was studied. RESULTS: The children with AD had significantly higher levels and positive rates of serum SEA- and SEB-specific IgE than the atopic children without AD (P < 0.001) and the nonatopic children (P < 0.001). There was no significant difference in the levels and positive rates of serum SEA- and SEB-specific IgE between the atopic children without AD and the nonatopic children. With or without adjustment for the potential confounding effect of total serum IgE levels, the levels and positive rates of serum SEA- and SEB-specific IgE were significantly correlated with severity of AD (P <0.005), but they were not significantly different between AD children with and without previous skin infections. CONCLUSIONS: SEA and SEB may contribute to chronic inflammation and exacerbation of AD through the IgE-mediated immune response.     

Diagnosis and taxonomy of periodical psychosis

The concept and taxonomy of periodic psychosis still remains in controversy for the past 100 years. In China, it was first reported by Ji, and thereafter various rinds of terminology and views were given by different authors. In the presentation, clinical investigation and follow up were carried out in 62 cases. In many of these cases, the so-called "periodic psychosis" or "phasophrenia" was early clinical features of schizophrenia or manic-depression. In those cases with apparent symptoms and signs of diencephalic function, differential diagnosis should be carried out from organic brain syndrome. In a small number of cases, their clinical manifestations, conforming to previous diagnostic criteria, might be an uncommon syndrome. It was concluded by the authors that until now periodic could be considered only as a clinical syndrome rather than a disease entity.     

Association between Reduced Serum Zinc and Diastolic Dysfunction in Maintenance Hemodialysis Patients

Diastolic dysfunction is an emerging challenge among hemodialysis (HD) patients, and the associations between serum zinc with echocardiographic parameters and diastolic function remain uncertain. A total of 185 maintenance HD patients were stratified by the tertiles of serum zinc level to compare their clinical characteristics and echocardiography. Correlations of serum zinc levels with echocardiographic parameters were examined using Pearson’s analysis. Univariate and multivariate logistic regression analyses were performed to investigate the determinants of E/e’ ratio >15 and left atrial volume index (LAVI) > 34 mL/m², both indicators of diastolic dysfunction. Patients belonging to the first tertile of serum zinc level had a significantly higher E/e’ ratio and LAVI. Serum zinc levels were negatively correlated with E (r = −0.204, p = 0.005), E/e’ ratio (r = −0.217, p = 0.003), and LAVI (r = −0.197, p = 0.007). In a multivariate analysis, older age, diabetes, coronary artery disease, and lower serum zinc levels (OR = 0.974, 95% CI = 0.950–0.999, p = 0.039) were significantly associated with E/e’ ratio >15. Furthermore, diabetes and lower serum zinc levels (OR = 0.978, 95% CI = 0.958–0.999, p = 0.041) were significantly associated with LAVI >34 mL/m². Reduced serum zinc level was significantly associated with diastolic dysfunction among HD patients. Further prospective studies are warranted to investigate whether zinc supplementation can attenuate cardiac dysfunction in maintenance HD patients.     

In vivo imaging of neuroblastomas using GD2-targeting graphene quantum dots

BackgroundPatients with neuroblastoma, a common childhood malignancy, often have poor prognosis. It is mandatory to develop an accurate and efficient diagnostic tool for neuroblastomas, so that the treatment can be started early. Graphene quantum dot (GQD), a nanomaterial, can be used to carry proteins, genetic materials, or drugs. GD2, a disialoganglioside, is a surface antigen expressed on neuroblastoma. This study investigated the in vivo targeting and imaging of neuroblastomas using GD2-targeting GQDs.MethodsGQDs were synthesized and conjugated with anti-GD2 antibody (anti-GD2/GQDs). In vitro cytotoxicity of GQDs and anti-GD2/GQDs was studied in human neuroblastoma cells by 3-[4,5-dimethylthiazole-2-yl]-2,5-diphenyltetrazolium bromide)-based colorimetric assay. The tumor tracking and imaging of anti-GD2/GQDs in mice were investigated by in vivo imaging system (IVIS).ResultsTreatment with GQDs or anti-GD2/GQDs induced no or mild cytotoxicity in fibroblasts and neuroblastoma cells. After co-incubation, GQDs and anti-GD2/GQDs were located in the cytoplasm and nucleus of neuroblastoma cells, with GQDs showing a blue fluorescence and anti-GD2/GQDs an orange/red emission. The IVIS images demonstrated accumulation of the fluorescence of anti-GD2/GQDs in the subcutaneous tumors in mice 24 h after intravenous injection of anti-GD2/GQDs.ConclusionsAnti-GD2/GQDs may potentially be used for the targeting and imaging of neuroblastomas in vivo.     

Tourette syndrome associated with Page kidney

Clinical and Experimental Nephrology - Page kidney is a rare condition leading to secondary hypertension and encountered most frequently due to traumatic subcapsular hematoma. Here, we present a...     

Tension band plates have greater risks of complications in temporary epiphysiodesis

PurposeThis study aimed to compare the efficacy of decreasing leg-length discrepancy (LLD) and postoperative complications between tension band plates (TBP) and percutaneous transphyseal screws (PETS).MethodsThis retrospective study reviewed LLD patients who underwent temporary epiphysiodesis at the distal femur and/or proximal tibia from 2010 to 2017 (minimum two years follow-up). Efficacy of decreasing LLD was assessed one and two years postoperatively. Complications were classified with the modified Clavien-Dindo-Sink complication classification system. Knee deformities were assessed by percentile and zone of mechanical axis across the tibial plateau.ResultsIn total, 53 patients (25 boys, 28 girls) underwent temporary epiphysiodesis (mean age, 11.4 years). The efficacy of decreasing LLD at two years between the TBP (n = 38) and PETS (n = 15) groups was comparable. Seven grade III complications were recorded in six TBP patients and in one PETS patient who underwent revision surgeries for knee deformities and physis impingement. Four grade I and two grade II complications occurred in the TBP group. The mechanical axis of the leg shifted laterally in the PETS group and medially in the TBP groups (+7.1 percentile versus -4.2 percentile; p < 0.05). Shifting of the mechanical axis by two zones was noted medially in four TBP patients and laterally in two PETS patients.ConclusionMore implant-related complications and revision surgeries for angular deformities were associated with TBP. A tendency of varus and valgus deformity after epiphysiodesis using TBP and PETS was observed, respectively. Patients and families should be informed of the risks and regular postoperative follow-up is recommended.Level of evidenceLevel III     

SC phocomelia syndrome, premature centromere separation, and congenital cranial nerve paralysis in two sisters, one with malignant melanoma

Two middle age sisters had most manifestations of the SC phocomelia syndrome including postnatal growth retardation, symmetric limb deficiencies with radial aplasia and absent thumbs, facial anomalies with microcephaly, microphthalmia, hypoplastic nasal alae, and borderline to mild mental retardation. Unusual findings included congenital paralysis of some cranial nerves in both patients and malignant melanoma in the proposita. Cultured lymphocytes from both patients, and skin fibroblasts, Epstein Barr virus-transformed lymphocytes, and tumor cells from the proposita demonstrated premature separation of centromeric heterochromatin (PCS) of many chromosomes, a finding noted previously in the SC phocomelia syndrome and the similar but more severe Roberts syndrome. Extensive overlap of the phenotypes of the sisters and 15 other patients with either syndrome and PCS confirms that these are either allelic conditions or the same disease--designated Roberts-SC phocomelia syndrome. The role of PCS in the syndrome(s) remains uncertain since some patients with the characteristic clinical phenotypes are reported to lack it.