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   ISSN (Print) 2296-0368 - ISSN (Online) 2296-0317
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  • The Origin of a Paradigm
    • Abstract:
      J Innate Immun 2016;8:221-222
  • A Novel Homozygous SLC2A9 Mutation
           Associated with Renal-Induced Hypouricemia
    • Abstract: Background: Hereditary renal hypouricemia (RHUC) is a genetically heterogenous disorder characterized by defective uric acid (UA) reabsorption resulting in hypouricemia and increased fractional excretion of UA; acute kidney injury (AKI) and nephrolithiasis are recognized complications. Type 1 (RHUC1) is caused by mutations in the SLC22A12 gene, whereas RHUC2 is caused by mutations in the SLC2A9 gene. Patient ethnicity is diverse but only few Caucasian families with an SLC2A9 mutation have been reported. Methods: The current report describes the clinical history, biochemical and molecular genetics findings of a native Austrian family with RHUC2. The propositus presented with 2 episodes of exercise-induced AKI and exhibited profound hypouricemia. Mutational screening of the SLC22A12 and SLC2A9 genes was performed. Results: The molecular analyses revealed the homozygous c.512G>A transition that leads to the p.Arg171His missense substitution in SLC2A9, confirming the diagnosis of RHUC2. Segregation study of the causal mutation revealed that the mother and elder sister were heterozygous carriers, whereas the younger sister was found to be homozygous. Conclusion: We report the identification of a novel mutation in SLC2A9 as the cause of RHUC2 in a native Austrian family. We show that glucose transporter 9 mutations cause severe hypouricemia in homozygous individuals and confirm the high risk of AKI in male individuals harbouring these mutations. In our literature review, we provide an overview of the putative underlying pathophysiology, potential renal complications, findings on kidney biopsy as well as potential long-time renal sequelae.
      Am J Nephrol 2016;43:245-250
  • Cytomegalovirus-Infected Primary Endothelial Cells Trigger
           NKG2C+ Natural Killer Cells
    • Abstract: Among innate cells, natural killer (NK) cells play a crucial role in the defense against cytomegalovirus (CMV). In some individuals, CMV infection induces the expansion of NKG2C+ NK cells that persist after control of the infection. We have previously shown that KIR2DL+ NK cells, in contrast to NKG2C+ NK cells, contribute to controlling CMV infection using a CMV-infected monocyte-derived dendritic cell (MDDC) model. However, the nature of CMV-infected cells contributing to the expansion of the NKG2C+ NK cell subset remains unclear. To gain more insight into this question, we investigated the contribution of NKG2C+ NK cell activation by CMV-infected primary human aortic endothelial cells (EC) isolated from kidney transplant donors, which constitutively express the human leukocyte antigen (HLA)-E molecule. Here, we show that, although classic HLA class I expression was drastically downregulated, nonclassic HLA-E expression was maintained in CMV-infected EC. By comparing HLA expression patterns in CMV-infected EC, fibroblasts and MDDC, we demonstrate a cell-dependent modulation of HLA-E expression by CMV infection. NKG2C+ NK cell degranulation was significantly triggered by CMV-infected EC regardless of the nature of the HLA-E allele product. EC, predominantly present in vessels, may constitute a privileged site for CMV infection that drives a ‘memory' NKG2C+ NK cell subset.
      J Innate Immun
  • Obesity Does Not Modify the Risk of Differentiated Thyroid Cancer in a
           Cytological Series of Thyroid Nodules
    • Abstract: Background: A possible impact of obesity on the risk of thyroid cancer has been postulated in some studies, but it remains controversial. Objective: To investigate the association between obesity and differentiated thyroid carcinoma in a population of unselected patients subjected to fine-needle aspiration cytology (FNAC) for thyroid nodules. Methods: We retrospectively evaluated the results of FNAC of thyroid nodules in 4,849 patients (3,809 females and 1,040 males; mean age 55.9 ± 14.1 years). Patients were stratified according to their body mass index (BMI). There were 1,876 (38.7%) normal-weight patients (BMI 18-24.9), 1,758 (36.2%) overweight (BMI 25-29.9), 662 (13.7%) grade 1 obese (BMI 30-34.9), 310 (6.4%) grade 2 obese (BMI 35-39.9) and 243 (5.0%) grade 3 obese (BMI >40). Results: The prevalence of suspicious or malignant nodules (Thy4/Thy5) did not differ across the 5 BMI groups, i.e. it was 6.8% in normal-weight patients, 6.3% in overweight patients, 6.3% in grade 1 obese patients, 4.0% in grade 2 obese patients and 4.2% in grade 3 obese patients (p = 0.29). The prevalence of Thy4/Thy5 nodules did not differ when males and females were evaluated separately (p = 0.22 and p = 0.12, respectively). A significant, lower rate of Thy4/5 cytology was observed in female patients with grade 2-3 obesity (odds ratio 0.51; 95% confidence interval 0.284-0.920; p = 0.009). Conclusions: The results of this study, in a retrospective series of patients with thyroid nodules, do not confirm previous findings reporting an association between obesity and differentiated thyroid carcinoma. Thus, obese patients with nodular thyroid disease should be managed the same as normal-weight patients.
      Eur Thyroid J
  • Vicinity of FLAIR Hyperintensities and SWI Microbleeds in Cerebral Amyloid
           Angiopathy-Related Inflammation
    • Abstract:
      Eur Neurol 2016;75:223-224
  • Surface Electromyography Reliably Records Electrophysiologically Evoked
           Internal Anal Sphincter Activity: A More Minimally Invasive Approach for
           Monitoring Extrinsic Innervation
    • Abstract: Background: Even in the case of minimally invasive pelvic surgery, sparing of the autonomic nerve supply is a prerequisite for maintaining anal sphincter function. Internal anal sphincter (IAS) innervation could be electrophysiologically identified based on processed electromyographic (EMG) recordings with conventional bipolar needle electrodes (NE). This experimental study aimed for the development of a minimally invasive approach via intra-anal surface EMG for recordings of evoked IAS activity. Methods: Six male pigs underwent nerve-sparing low anterior rectal resection. Electric autonomic nerve stimulations were performed under online-processed EMG of the IAS. EMG recordings were simultaneously carried out with conventional bipolar NE as the reference method and newly developed intra-anal surface electrodes (SE) in different designs. Results: In all experiments, the IAS activity could be continuously visualized via EMG recordings based on NE and SE. The median number of bipolar electric stimulations per animal was 27 (range 5-52). The neurostimulations resulted in significant EMG amplitude increases for both recording types [NE: median 3.0 µV (interquartile range, IQR 2.8-3.5) before stimulation vs. 7.1 µV (IQR 3.9-13.8) during stimulation, p < 0.001; SE: median 3.6 µV (IQR 3.1-4.3) before stimulation vs. 6.8 µV (IQR 4.8-10.3) during stimulation, p < 0.001]. Conclusions: Intra-anal SE enabled reliable EMG of electrophysiologically evoked IAS activity similar to the conventional recording via NE. The transfer of the method to access platforms for transanal total mesorectal excision or robotics may offer a practical more minimally invasive approach for monitoring extrinsic innervation.
      Eur Surg Res 2016;57:81-88
  • Comparative Cytogenetic Analysis of Spontaneous Abortions in Recurrent and
           Sporadic Pregnancy Losses
    • Abstract: Background: The majority of miscarriages are sporadic; however, 1-5% of couples experience recurrent pregnancy loss (RPL). Approximately 50-60% of miscarriages result from chromosomal abnormalities. Currently, there are conflicting reports regarding the rates of chromosomal abnormalities between recurrent and sporadic pregnancy losses. Methods: A retrospective comparative cytogenetic analysis of 442 RPL and 466 sporadic abortions (SA) was performed. Maternal age and medical background were evaluated, and chromosomal abnormality rates were compared between groups. Results: The frequency of embryos with abnormal karyotypes was significantly higher in SA compared to RPL (56.7 and 46.6%, respectively), and abortions from women under 30 years of age were the main contributor to this difference. An age-dependent increase in the abnormal karyotype rate was observed in two groups of women - those with SA [53.0 and 70.1% for younger and older (≥35-year-old) mothers, respectively] and those with idiopathic RPL without any concomitant reproductive pathology (46.5 and 78.4% for younger and older mothers) - but not in the group of women with RPL associated with concomitant reproductive pathology. The incidence of recurrent abnormal karyotypes in subsequent miscarriages was significantly higher than random probability (odds ratio = 22.75). Conclusion: Our findings highlight the variability in the risk of aneuploidy in recurrent abortion.
      Biomed Hub 2016;1:446099
  • Welcome to Biomedicine Hub
    • Abstract:
      Biomed Hub 2016;1:446335
  • Chitotriosidase: A New Inflammatory Marker in Diabetic Complications
    • Abstract: Chitotriosidase (CHIT1) belongs to chitinase family. So far this enzyme has been the best investigated human chitinase regarding its biological activity and association with various disorders. In a healthy population, CHIT1 activity is very low and originates in the circulating polymorphonuclear cells. Conversely, during the development of acute/chronic inflammatory disorders, the enzymatic activity of CHIT1 increases significantly. Recently, CHIT1 has also been involved in the pathogenesis of diabetes mellitus (DM). Mounting evidence from experimental studies revealing the increase of CHIT1 levels in pathological conditions, such as atherosclerosis, coronary artery disease, acute ischemic stroke, cerebrovascular dementia, nonalcoholic fatty liver disease, and osteolytic processes suggest its critical role in the evolutions and complications of DM. This review is addressed to provide mechanistic insights by highlighting the relationship between CHIT1 and diabetes, and their contribution in the exacerbation of this disease.
      Pathobiology 2016;83:211-219
  • Invasive Lobular Carcinoma Mimicking Papillary Carcinoma: A Report of
           Three Cases
    • Abstract: Encapsulated and solid papillary carcinomas (EPCs and SPCs) are considered historically as a special form of ductal carcinoma in situ. Invasive lobular carcinoma (ILC) is characterised by a discohesive growth pattern. There are several variants of ILC, but, as yet, no papillary subtype has been identified. Here we report 3 cases of ILC presenting as papillary carcinoma (PC) with a typical solid papillary growth pattern. One case was reported on core biopsy as EPC (B5a). The 3 ensuing resection specimens showed features typical of SPC with a circumscribed malignant epithelial proliferation containing fibrovascular cores and surrounded, at least focally, by a thick fibrous capsule. The lobular nature of these tumours was confirmed on the resection specimens by the absence of E-cadherin and β-catenin membrane expression. The invasive nature was confirmed by the presence of entrapped fat cells, the absence of myoepithelial cells and focal merging of the solid papillary areas with classic ILC at the periphery. Of note, 1 case was a recurrent carcinoma without an in situ component. Conclusion: This study provides further evidence that EPC and SPC represent a unique growth pattern of breast carcinomas rather than reflecting the in situ or invasive nature of the tumour, and that ILC can acquire a papillary growth pattern.
      Pathobiology 2016;83:221-227
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