bluuebunny/crossref_metadata_2025 huggingface dataset:
The juvenile alopecia mutation (jal) maps to mouse Chromosome 2, and is an allele of GATA binding protein 3 (Gata3)
Authors: Ramirez Francisco , Feliciano Aaron M , Adkins Elisabeth B , Child Kevin M , Radden II Legairre A , Salas Alexis , Vila-Santana Nelson , Horák José M , Hughes Samantha R , Spacek Damek V , King Thomas R
Published: May 2013

Background

Mice homozygous for the juvenile alopecia mutation (jal) display patches of hair loss that appear as soon as hair develops in the neonatal period and persist throughout life. Although a report initially describing this mouse variant suggested thatjalmaps to mouse Chromosome 13, our preliminary mapping analysis did not support that claim.

Results

To mapjalto a particular mouse chromosome, we produced a 103-member intraspecific backcross panel that segregated forjal,and typed it for 93 PCR-scorable, microsatellite markers that are located throughout the mouse genome. Only markers from the centromeric tip of Chromosome 2 failed to segregate independently fromjal, suggesting thatjalresides in that region. To more precisely definejal’s location, we characterized a second, 374-member backcross panel for the inheritance of five microsatellite markers from proximal Chromosome 2. This analysis restrictedjal’s position betweenD2Mit359andD2Mit80, an interval that includesIl2ra(for interleukin 2 receptor, alpha chain), a gene that is known to be associated with alopecia areata in humans. Complementation testing with an engineered null allele ofIl2ra, however, showed thatjalis a mutation in a distinct gene. To further refine the location ofjal, the 374-member panel was typed for a set of four single-nucleotide markers located betweenD2Mit359andD2Mit80, identifying a 0.55 Mb interval wherejalmust lie. This span includes ten genes—only one of which,Gata3(for GATA binding protein 3)—is known to be expressed in skin. Complementation testing betweenjaland aGata3null allele produced doubly heterozygous, phenotypically mutant offspring.

Conclusions

The results presented indicate that thejalmutation is a mutant allele of theGata3gene on mouse Chromosome 2. We therefore recommend that thejaldesignation be changed toGata3jal,and suggest that this mouse variant may provide an animal model for at least some forms of focal alopecia that have their primary defect in the hair follicle and lack an inflammatory component.
Improved quality of life after surgery for pelvic organ prolapse in Nepalese women
Authors: Dhital Rolina , Otsuka Keiko , Poudel Krishna C , Yasuoka Junko , Dangal Ganesh , Jimba Masamine
Published: May 2013

Background

Pelvic organ prolapse (POP) is a common gynecological condition that can affect quality of life (QOL) in women. In Nepal, the prevalence of POP is high, but many affected women are still deprived of treatment. Vaginal hysterectomy with pelvic floor repair is one of the common treatment options for advanced POP. However, QOL outcomes after surgery have not been reported in low-income countries. Thus, we aimed to examine changes in QOL among Nepalese women with POP after such surgery.

Methods

This longitudinal study was conducted in the selected central and peripheral hospitals in Nepal where vaginal hysterectomy was being performed free of cost for POP. A baseline study first measured the QOL domains (physical, psychological, social relationships and environment) among 252 women with advanced POP. Follow-up data was then collected at six weeks and three months after surgery. Among the 177 women that were available at six weeks post-surgery, 166 participated in the follow-up study at three months post-surgery. To evaluate QOL at baseline, 142 women with no history of POP were included as a comparison group.

Results

The mean scores across QOL domains improved from baseline to 3 months after surgery. The baseline score for the physical domain increased from 11.2 to 12.8 at six weeks and 13.5 at three months post-surgery (p < 0.001); the psychological domain score increased from 11.6 to 13.1 at six weeks and 13.8 at three months post-surgery (p < 0.001); the social relationships domain score increased from 13.6 to 14.4 at six weeks and 15.0 at three months post-surgery (p < 0.001); and the environmental domain score increased from 12.9 to 13.9 at six weeks and 14.0 at three months post-surgery (p < 0.001).

Conclusion

QOL progressively improved among women undergoing surgery for POP. Such surgical services need to be scaled up for treatment of advanced POP in low-income countries.
Role of Kir6.2 subunits of ATP-sensitive potassium channels in endotoxemia-induced cardiac dysfunction
Authors: Yang Zhong-Wei , Chen Ji-Kuai , Ni Min , Zhao Ting , Deng Ya-Ping , Tao Xia , Jiang Guo-Jun , Shen Fu-Ming
Published: May 2013

Background

Cardiac dysfunction is well-described in endotoxemia and diagnosed in up to 60% of patients with endotoxic shock. ATP-sensitive potassium (KATP) channels are critical to cardiac function. This study investigates the role of Kir6.2 subunits of KATP channels on cardiac dysfunction in lipopolysaccharide (LPS)-induced endotoxemia.

Methods

Kir6.2 subunits knockout (Kir6.2−/−) and wild-type (WT) mice were injected with LPS to induce endotoxemia. Cardiac function was monitored by echocardiography. Left ventricles were taken for microscopy (both light and electron) and TUNEL examination. Serum lactate dehydrogenase (LDH) and creatine kinase (CK) activities, and tumor necrosis factor-α (TNF-α) levels in both serum and left ventricular tissues were determined.

Results

Compared to WT, Kir6.2−/− mice showed significantly declined cardiac function 360 min after LPS administration, aggravated myocardial damage and elevated serum LDH and CK activities. Apoptotic cells were obviously increased in heart tissues from Kir6.2−/− mice at 90, 180 and 360 min. TNF-α expression in both serum and heart tissues of Kir6.2−/− mice was significantly increased.

Conclusions

We conclude that Kir6.2 subunits are critical in resistance to endotoxemia-induced cardiac dysfunction through reducing myocardial damage by inhibition of apoptosis and inflammation. KATP channels blockers are extensively used in the treatment of diabetes, their potential role should therefore be considered in the clinic when patients treated with antidiabetic sulfonylureas are complicated by endotoxemia.
Effects of NS lactobacillus strains on lipid metabolism of rats fed a high-cholesterol diet
Authors: Hu Xu , Wang Tao , Li Wei , Jin Feng , Wang Li
Published: May 2013

Background

Elevated serum cholesterol level is generally considered to be a risk factor for the development of cardiovascular diseases which seriously threaten human health. The cholesterol-lowering effects of lactic acid bacteria have recently become an area of great interest and controversy for many researchers. In this study, we investigated the effects of two NS lactobacillus strains, Lactobacillus plantarum NS5 and Lactobacillus delbrueckii subsp. bulgaricus NS12, on lipid metabolism of rats fed a high cholesterol diet.

Methods

Thirty-two SD rats were assigned to four groups and fed either a normal or a high-cholesterol diet. The NS lactobacillus treated groups received the high-cholesterol diet supplemented with Lactobacillus plantarum NS5 or Lactobacillus delbrueckii subsp. bulgaricus NS12 in drinking water. The rats were sacrificed after a 6-week feeding period. Body weights, visceral organ and fat weights, serum and liver cholesterol and lipid levels, intestinal microbiota and liver mRNA expression levels related to cholesterol metabolism were analyzed. Liver lipid deposition and adipocyte size were evaluated histologically.

Results

Compared with rats fed a high cholesterol diet, serum total cholesterol, low-density lipoprotein cholesterol, apolipoprotein B and free fatty acids levels were decreased and apolipoprotein A-I level was increased in NS5 or NS12 strain treated rats, and with no significant change in high-density lipoprotein cholesterol level. Liver cholesterol and triglyceride levels were also significantly decreased in NS lactobacillus strains treated groups. Meanwhile, the NS lactobacillus strains obviously alleviated hepatic injuries, decreased liver lipid deposition and reduced adipocyte size of high cholesterol diet fed rats. NS lactobacillus strains restored the changes in intestinal microbiota compositions, such as the increase in Bacteroides and the decrease in Clostridium. NS lactobacillus strains also regulated the mRNA expression levels of liver enzymes related to cholesterol metabolism, including the down regulation of acyl-CoA:cholesterol acyltransferase (ACAT) and the upregulation of cholesterol 7α-hydroxylase (CYP7A1).

Conclusion

This study suggested that the two NS lactobacillus strains may affect lipid metabolism and have cholesterol-lowering effects in rats fed a high cholesterol diet.
Performance of new BOC-AW-modulated signals for GNSS system
Authors: Flissi Mustapha , Rouabah Khaled , Chikouche Djamel , Mayouf Abdehalim , Atia Salim
Published: May 2013

In this paper, we propose efficient signal waveforms (WFs) with optimized spectrum for multipath (MP) mitigation and jamming reduction in global navigation satellite system. These WFs are based on the use of sine-phased binary offset carrier (BOC) with adjustable width (BOC-AW). They are generated by adjusting the width of the three-level WF {-1, 0, 1}. By exploiting the three-level BOC-AW subcarriers in sine-phasing signal model, we developed several forms of BOC-AW by means of superposition and width adjustment. The resulting power spectral densities and autocorrelation functions of the proposed WFs were calculated and introduced. Also calculated were the spectral separation coefficients (SSCs) and the Cramér-Rao lower bounds (CRLBs). The SSCs and CRLBs prove the efficiency of the proposed WFs in terms of interference separation. In addition, the simulation results show that the proposed WFs present better performances in MP mitigation compared to the WFs adopted by the Galileo and global positioning system modernization.
Modified hypothermic circulatory arrest for emergent repair of acute aortic dissection type a: a single-center experience
Authors: Qian Hong , Hu Jia , Du Lei , Xue Ying , Meng Wei , Zhang Er-yong
Published: May 2013

Background

Deep hypothermic circulatory arrest (DHCA) with antegrade cerebral perfusion has been historically preferred for organ protection during surgical repair of the acute aortic dissection type A. However, in the past decades, different perfusion-specific strategies with a growing trend to increase the body temperature at circulatory arrest emerged. In this study, we retrospectively analyzed the clinical results of our modified protocol for cardiopulmonary bypass and hypothermia management.

Methods

Between February 2007 and September 2012, 54 consecutive patients suffering from acute aortic dissection type A underwent emergent surgery. All patients received hypothermic circulatory arrest in combination with antegrade cerebral perfusion. The patients were divided into two subsets according to the degree of hypothermia and perfusion strategies: namely the DHCA group and the group of modified hypothermic circulatory arrest (MHCA).

Results

The overall 30-day mortality was 27.8% and was not significantly different between groups (DHCA, 33.3%, MHCA, 19%; p=0.253). The requirement for blood product transfusion in MHCA patients was significantly less as as compared with the patients in the DHCA group. No difference occurred in the incidence of temporary neurologic dysfunction, dialysis-dependent renal failure, or reexploration for bleeding between two groups of patients. The use of MHCA was identified as a protective factor against the postoperative composite complications (OR, 0.78; CI, 0.52 to 0.98; p=0.04) and the prolonged intensive care unit stay (OR, 0.8; 95% CI, 0.56 to 0.98; p=0.04).

Conclusions

Moderate hypothermia in combination with selective brain perfusion and systemic retrograde perfusion is associated with adequate cerebral and visceral protection, reduced postoperative complications and shortened intensive care unit stay in our series. This modified perfusion strategy may help in improving perioperative outcomes in this particular group of patients.
Preoperative risk stratification models fail to predict hospital cost of cardiac surgery patients
Authors: Badreldin Akmal MA , Doerr Fabian , Kroener Axel , Wahlers Thorsten , Hekmat Khosro
Published: May 2013

Background

Preoperative risk stratification models have previously been suggested to predict cardiac surgery unit costs. However, there is a lack of consistency in their reliability in this field. In this study we aim to test the correlation between the values of six commonly known preoperative scoring systems and evaluate their reliability at predicting unit costs of cardiac surgery patients.

Methods

Over a period of 14 months all consecutive adult patients undergoing cardiac surgery on cardiopulmonary bypass were prospectively classified using six preoperative scoring models (EuroSCORE, Parsonnet, Ontario, French, Pons and CABDEAL). Transplantation patients were the only patients we excluded. Total hospital costs for each patient were calculated independently on a daily basis using the bottom up method. The full unit costs were calculated including preoperative diagnostic tests, operating room cost, disposable materials, drugs, blood components as well as costs for personnel and fixed hospital costs. The correlation between hospital cost and the six models was determined by linear regression analysis. Both Spearman’s and Pearson’s correlation coefficients were calculated from the regression lines. An analysis of residuals was performed to determine the quality of the regression.

Results

A total of 887 patients were operated on for CABG (n = 608), valve (n = 142), CABG plus valve (n = 100), thoracic aorta (n = 33) and ventricular assist devices (n = 4). Mean age of the patients was 68.3±9.9 years, 27.6% were female. 30-day mortality rate was 4.1%. Correlation between the six models and hospital cost was weak (Pearson’s: r < 0.30; Spearman’s: r < 0.40).

Conclusion

The risk stratification models in this study are not reliable at predicting total costs of cardiac surgical patients. We therefore do not recommend their use for this purpose.
Retrospective review of the use and costs of routine chest x rays in a trauma setting
Authors: Ziegler Kristina , Feeney James M , Desai Colleen , Sharpio David , Marshall Wiiliam T , Twohig Michael
Published: May 2013

Introduction

Chest x-rays (CXR) are routinely obtained on blunt trauma patients. Many patients also receive additional imaging with thoracic computed tomography scans for other indications. We hypothesized that in hemodynamically normal, awake and alert blunt trauma patients, CXR can be deferred in those who will also receive a TCT with significant cost savings.

Methods

We retrospectively reviewed the charts of trauma patients from 1/1/2010 to 12/31/2010 who received both a CXR and TCT in the trauma room. Billing and cost data were collected from various hospital sources.

Results

239 patients who met inclusion and exclusion criteria and received CXR and TCT between 1/1/2010 and 12/31/2010. The sensitivity of CXR was 19% (95% CI: 10.8% to 31%) and the specificity was 91.7% (95% CI: 86.7% to 95%). The false positive rate for CXR was 35.8% (95% CI: 21.7% to 52.8%) and the false negative rate was 24.5% (95% CI: 18.8% to 31.2%). The precision of CXR was 42.3% (95% CI: 25.5% to 61.1%) and the overall accuracy was 74.1% (95% CI: 68.1% to 79.2%). If routine chest xray were eliminated in these patients, the estimated cost savings ranged from $14,641 to $142,185, using three different methods of cost analysis.

Conclusions

In patients who are hemodynamically normal and who will be receiving a TCT, deferring a CXR would result in an estimated cost savings up to $142,185. Additionally, TCT is more sensitive and specific than CXR in identifying injuries in patients who have sustained blunt trauma to the thorax.
Inhibition of ADAM-17 more effectively down-regulates the Notch pathway than that of γ-secretase in renal carcinoma
Authors: Guo Zhen , Jin Xunbo , Jia Haiyan
Published: May 2013

Background

Our study is to research the effect of inhibited ADAM-17 expression through the Notch pathway in renal carcinoma.

Methods

Immunohistochemistry and western blot were used to examine the expression of ADAM-17 protein in renal cancer tissues. Proliferation and cell invasion of 786-o cells, as well as OS-RC-2 cells, after treatment with two different inhibitors of the Notch pathway, were examined by CCK-8 assay and Transwell assay, respectively. 786-o cell apoptosis was measured using the FCM test.

Results

ADAM-17 was highly expressed in RCC tissues. Compared with blocking γ-secretase, a known mechanism of impairing Notch, blockade of ADAM-17 more effectively down-regulated the expressions of Notch1 and HES-1 proteins. Similarly, we found that the ADAM-17 inhibitor, Marimastat, could more efficiently reduce renal cell proliferation and invasive capacity in comparison with the γ-secretase inhibitor DAPT when used at the same dose. Similar results were obtained when apoptosis of 786-o was measured.

Conclusion

Compared with γ-secretase, inhibition of ADAM-17 expression more effectively inhibits Notch pathway-mediated renal cancer cell proliferation and invasion. ADAM-17 may be a new target for future treatment of renal carcinoma.
Knowledge of specific HIV transmission modes in relation to HIV infection in Mozambique
Authors: Brewer Devon D
Published: May 2013

Background: In prior research, Africans who knew about blood-borne risks were modestly less likely to be HIV-infected than those who were not aware of such risks.

Objectives/Methods: I examined the association between knowledge of specific HIV transmission modes and prevalent HIV infection with data from the 2009 Mozambique AIDS Indicator Survey.

Results: Respondents displayed high awareness of blood exposures and vaginal sex as modes of HIV transmission. However, only about half of respondents were aware of anal sex as a way HIV can be transmitted. After adjustments for demographics and sexual behaviors, respondents who knew that HIV could spread by contact with infected blood or by sharing injection needles or razor blades were less likely to be infected than those who did not know about these risks. Respondents who knew about sexual risks were as, or more, likely to be HIV infected as those who did not know about sexual risks. Also, children of HIV-uninfected mothers were less likely to be infected if their mothers were aware of blood-borne HIV risks than if their mothers were unaware.

Conclusion: HIV education campaigns in Mozambique and elsewhere in sub-Saharan Africa should include a focus on risks from blood exposures and anal sex.
Freely available compound data sets and software tools for chemoinformatics and computational medicinal chemistry applications
Authors: Hu Ye , Bajorath Jürgen
Published: May 2013

We have generated a number of compound data sets and programs for different types of applications in pharmaceutical research. These data sets and programs were originally designed for our research projects and are made publicly available. Without consulting original literature sources, it is difficult to understand specific features of data sets and software tools, basic ideas underlying their design, and applicability domains. Currently, 30 different entries are available for download from our website. In this data article, we provide an overview of the data and tools we make available and designate the areas of research for which they should be useful. For selected data sets and methods/programs, detailed descriptions are given. This article should help interested readers to select data and tools for specific computational investigations.
Progress and challenges in the computational prediction of gene function using networks
Authors: Pavlidis Paul , Gillis Jesse
Published: May 2013

In this opinion piece, we attempt to unify recent arguments we have made that serious confounds affect the use of network data to predict and characterize gene function. The development of computational approaches to determine gene function is a major strand of computational genomics research. However, progress beyond using BLAST to transfer annotations has been surprisingly slow. We have previously argued that a large part of the reported success in using "guilt by association" in network data is due to the tendency of methods to simply assign new functions to already well-annotated genes. While such predictions will tend to be correct, they are generic; it is true, but not very helpful, that a gene with many functions is more likely to have any function. We have also presented evidence that much of the remaining performance in cross-validation cannot be usefully generalized to new predictions, making progressive improvement in analysis difficult to engineer. Here we summarize our findings about how these problems will affect network analysis, discuss some ongoing responses within the field to these issues, and consolidate some recommendations and speculation, which we hope will modestly increase the reliability and specificity of gene function prediction.
Is the pan-genome also a pan-selectome?
Authors: Rodriguez-Valera Francisco , Ussery David W
Published: May 2013

The comparative genomics of prokaryotes has shown the presence of conserved regions containing highly similar genes (the 'core genome') and other regions that vary in gene content (the ‘flexible’ regions). A significant part of the latter is involved in surface structures that are phage recognition targets. Another sizeable part provides for differences in niche exploitation. Metagenomic data indicates that natural populations of prokaryotes are composed of assemblages of clonal lineages or "meta-clones" that share a core of genes but contain a high diversity by varying the flexible component. This meta-clonal diversity is maintained by a collection of phages that equalize the populations by preventing any individual clonal lineage from hoarding common resources. Thus, this polyclonal assemblage and the phages preying upon them constitute natural selection units.
Folie a deux: a case report
Authors: Haqqi Sobia , Ali Nisreen
Published: May 2013

Folie a deux, to date, remains a rare, yet a challenging psychiatric diagnosis. We discuss two cases that were identified in our out-patient clinics. One case was lost to follow up, while the other one showed improvement over time with appropriate management. Conclusion: As with any rare disorder, recognition and correct referral for rare diagnosis like folie a deux is of paramount importance.
The efficacy of disinfectants on abattoirs’ Candida albicans isolates in Niger Delta region
Authors: Olorode Oluwayemisi A , Okpokwasli G Chijioke
Published: May 2013

This study was conducted to evaluate the antimicrobial activities of common disinfectants- these are (parachlorometaxylenol) dettol, savlon purit and jik (sodium hypochlorite) on Candida albicans isolated from displaying and cutting tables in five different abattoirs in Port Harcourt (Niger Delta region); the abattoirs include Trans Amadi, Agip, Woji, Rumuokoro, and Rumuodara. This research was carried out between January 2005 and June 2006. Swab samples were collected from abattoirs cutting tables with sterile swab sticks and immediately transferred and cultured in the laboratory on a selective medium Sabouraud Dextrose Agar (SDA). The disinfectants’ concentrations were prepared at 10%, 20%, 40%, and 70%, in triplicates and the mean values calculated. 0.5 Mc Farland turbidity method of standardization and Agar diffusion method were used for disinfectants testing of the isolates. Statistical analysis of the data showed no significant difference in the effectiveness of these disinfectants at (p<0.05). In conclusion, this study has shown that savlon and dettol were the most potent antimicrobial agents at 10% concentration on Candida albicans isolates when compared with purit and jik in this study, hence they are good sanitizing agents to be applied on the abattoirs cutting tables, before meat products can be displayed for sale.
A rare variation of hydranencephaly: case report
Authors: Wijerathne Buddhika TB , Rathnayake Geetha K , Ranaraja Sisira K
Published: May 2013

Hydranencephaly is a rare severe abnormality characterized by replacement of cerebral hemisphere with fluid covered by leptomeninges such that absent cerebral cortex. We present the Ultrasonographic diagnosis of a case of fetal Hydranencephaly at 38 weeks of gestation. Sonography revealed the absence of cerebral cortex, thalami and basal ganglia with disrupted falx and preserved posterior fossa structures. This was the first reported case of Hydranencephaly with absence thalami and basal ganglia along with midbrain. Confirmation of diagnosis was made with postnatal computed tomography. Even though it was diagnosed in the late third trimester, it allowed prompt and finest obstetric management which reduced the risk for both fetus and mother. Furthermore it allowed arrangement of optimal conditions for birth at a unit with accessible specialized pediatric facilities.
Longhorned beetle (Coleoptera: Cerambycidae) diversity in a fragmented temperate forest landscape
Authors: Pavuk Daniel M , Wadsworth Andrea M
Published: May 2013

Longhorned beetles (Coleoptera: Cerambycidae) are an important component of temperate forest ecosystems. We trapped longhorned beetles in forests in northwest Ohio during 2008 to test the hypothesis that larger forests have greater species diversity than smaller forests. Large forests had a significantly greater cerambycid species richness than small forests (t = 3.16. P = 0.02), and there was a significant relationship between forest size and cerambycid species richness.
A hematologic condition expressed as a lung disease
Authors: Egozcue-Dionisi Mónica , Nieves-Nieves José , Fernández-Gonzalez Ricardo , Fernández-Medero Rosángela , Reyes-Sosa Raúl , Lozada-Costas José , Pérez-Duardo Ramiro , Vélez-Rosario Román
Published: May 2013

Pleural involvement secondary to Multiple Myeloma is considered a very rare complication. According to the literature only 1% of these patients develop a myelomatous pleural effusion. We present a case of a 39 year old man with multiple myeloma diagnosed six years prior to our evaluation, which developed progressive dyspnea, dry cough and right pleuritic chest pain two weeks prior to admission. On physical examination the patient had decreased breath sounds over the right posterior hemithorax accompanied by dullness to percussion. The chest radiogram was consistent with a right sided pleural effusion. Pleural fluid analysis revealed the presence of abundant abnormal plasma cells. The patient died four weeks after hospitalization. The presence of myelomatous pleural effusion is considered to be a poor prognostic finding, no matter at what disease stage it develops. So far no definite treatment has been shown to improve survival.
Donor awareness: key to successful voluntary blood donation
Authors: Sareen Rateesh , Gupta Gajendra N , Dutt Akanksha
Published: May 2013

Context: The current regulatory requirements for donor eligibility pose a challenge to blood centers in recruitment of voluntary blood donors, particularly in a developing country like India where awareness of the general population is low and myths about blood donation are prevalent. This study evaluates the reasons and rates of donor deferral in a tertiary hospital-based blood bank in western India.

Aim: To find rates and reasons for deferral of voluntary blood donors in a city in western India.

Settings and design: A retrospective study was done on blood donors during a 3-month period. Data collection was done by electronic records of blood donors.

Materials and Methods: The study was conducted retrospectively at a tertiary care hospital in western India. All those who donated whole blood between 1st January 2011 and 31st March 2011 were included in the study. Data was collected using local blood bank software.

Statistical analysis used: No statistical technique used as it is a data article.

Results: 60.5% of donors were young, below 30 years of age. Donors were predominantly male (91.6%). Voluntary donors comprised 88% of the donors. Total deferral rate was 22.36%, with 17.29% permanent deferrals and 82.71% temporary deferrals. Main reasons for deferral were anemia 39.42%, low body weight 14.29%, hypertension 10.73%, age below 18 years 10.73% and history of medication 6.09%. The common causes of deferral between our study and other similar studies are the same.

Conclusion: We concluded that majority of the donor population belongs to 18–30-year-old age group. This is encouraging with a voluntary blood donation initiative. Donor self exclusion and strict donor selection criteria application should be addressed by more proactive measures to make blood donation a safe and pleasurable experience.
Low budget analysis of Direct-To-Consumer genomic testing familial data
Authors: Glusman Gustavo , Cariaso Mike , Jimenez Rafael , Swan Daniel , Greshake Bastian , Bhak Jong , Logan Darren W , Corpas Manuel
Published: May 2013

Direct-to-consumer (DTC) genetic testing is a recent commercial endeavor that allows the general public to access personal genomic data. The growing availability of personal genomic data has in turn stimulated the development of non-commercial tools for DTC data analysis. Despite this new wealth of public resources, no systematic research has been carried out to assess these tools for interpretation of DTC data. Here, we provide an initial analysis benchmark in the context of a whole family, using single nucleotide polymorphism (SNP) data. Five blood-related DTC SNP chip data tests were analyzed in conjunction with one whole exome sequence. We report findings related to genomic similarity between individuals, genetic risks and an overall assessment of data quality; thus providing an evaluation of the current potential of public domain analysis tools for personal genomics. We envisage that as the use of personal genome tests spreads to the general population, publicly available tools will have a more prominent role in the interpretation of genomic data in the context of health risks and ancestry.
CA72-4 may contribute to real-time reconnaissance of gastric cancer
Authors: Keller Jutta , Reiss-Sklan Ella , Refael Miri , Andresen Viola , Levy-Herman Yael , Ruvinsky Igor
Published: May 2013

Objective: Data from prospective studies indicate a positive impact of gastric cancer screening programs on mortality associated with the disease. Unfortunately, endoscopic procedures, widely regarded as uncomfortable, face low patient compliance, thus underscoring the need for reliable biological markers capable of detection of tumor growth in bodily fluids. Furthermore, in light of the emerging patient-friendly, still devoid of histopathological capabilities, capsule endoscopy, gastric fluid may prove valuable for biomarker-assisted cancer diagnosis. We set out to determine whether CA72-4 measurement in gastric fluid may be of benefit for detection of gastric cancer.

Design: Open prospective study.

Setting: Sample collection was performed at a tertiary referral center for patients with gastroenterological diseases; immunological analysis was performed at the R&D facility of a commercial biotechnology company. Studies were part of an EU-FP6 project (NEMO).

Patients: 176 patients referred for endoscopy due to gastrointestinal complaints.

Interventions: Gastric juice was aspirated endoscopically according to standard operating procedures, volume and pH were measured immediately and samples stored at -80°C.

Outcome measures: Concentration of CA72-4 tumor marker was evaluated by enzyme-linked immunosorbent assay (ELISA).

Results: Median CA72-4 levels were about 4-fold higher in cancer patients compared with patients with normal gastric findings, gastric inflammation, intestinal metaplasia or other diseases (p=0.001). Multivariate linear regression analysis revealed that elevated CA72-4 was significantly predicted by gastric carcinoma adjusted for H. pylori status, age, smoking status, PPI dose, and pH of aspirate (R2=0.27, p<0.0001). In this model, diagnosis of gastric carcinoma had by far the greatest influence. At a cut-off level of 100 U/ml, CA72-4 had 75% sensitivity and 89% specificity for detection of gastric cancer.

Conclusions: Based on our findings, CA72-4 level assessment in gastric fluid, featuring yet unmatched accuracy of malignant neoplasia detection may prove beneficial for gastric cancer screening.
Curative treatment in a patient with gastric cancer stage IV: a case report
Authors: Diel Andreas , Rodermann Ernst , Kienzle Hans-Friedrich , Meuthen Denis , Meuthen Ingo
Published: May 2013

A 39-year old patient with gastric adenocarcinoma stage IV failed to respond to preoperative chemotherapies containing 5-FU and cisplatin as well as 5-FU and irinotecan. After third-line chemotherapy with two cycles of docetaxel and cisplatin we confirmed a clinical partial response. A complete histologically confirmed remission was detected after complete resection of the tumor. Following two postoperative cycles of docetaxel and cisplatin, the tumor is still in complete remission after more than eight years.
Corticoid-associated complications in elderly
Authors: Ben Dhaou Besma Ben , Boussema Fatma , Aydi Zohra , Baili Lilia , Tira Hédi , Rokbani Lilia
Published: May 2013

Background: Corticosteroids are widely prescribed products in the elderly particularly in systemic diseases and have been indispensable in controlling a variety of disease states. The various complications associated with this drug class warrant caution and monitoring with each formulation, especially with an older patient population.

Aim: The aim of our study was to evaluate the frequency and type of side effects and complications of long-term corticosteroid therapy in the elderly.

Methods: We conducted a retrospective study of 23 patients aged 65 and older hospitalized in the Internal Medicine Department of the Habib Thameur hospital from January 2000 to December 2004. Corticoid-related adverse effects were recorded throughout the follow-up period.

Results: There were 20 women and 3 men aged 66 to 87 years with a mean age of 75.7 years. The diagnoses were 8 cases of temporal arteritis, 7 cases of rheumatoid arthritis, 3 cases of multiple myeloma, 2 scleroderma, 1 case of systemic lupus erythematosus, 1 case of retroperitoneal fibrosis and 1 case of psoriatic arthritis. We selected 66 complications. Infectious complications were found in 26 cases (39.3%), 11 cases (16.7%) of iatrogenic diabetes, arterial hypertension in 9 cases (13%), skeletal complications in two cases, psychiatric complications in two cases, ophthalmologic complications in one case.

Conclusion: Despite lifestyle rules and adjunctive therapy, complications seem to be frequent. To minimize the disadvantages of prolonged corticosteroid treatment, regular monitoring and careful screening is imperative to detect and handle them in time.
Pleural effusion as the initial extramedullary manifestation of Acute Myeloid Leukemia
Authors: Nieves-Nieves José , Hernandez-Vazquez Luis , Boodoosingh Dev , Fernández-Gonzalez Ricardo , Fernández-Medero Rosángela , Adorno-Fontánez José , Adorno-Fontánez Edgardo , Lozada-Costas José
Published: May 2013

Leukemias rarely debut by pleural involvement as the first manifestation of the hematologic malignancy. This complication is most commonly seen in solid tumors such as carcinomas of the breast, lung, gastrointestinal tract and lymphomas. We present a case of a 66 year old male who presented with a pleural leukemic infiltration of his undiagnosed Acute Myeloid Leukemia that was not a complication of the disease extension, but the acute presentation of the illness. Progressive shortness of breath for two weeks, cough, clear sputum and weight loss were the initial complaints. Serum dyscrasia suggested a hematologic abnormality. A chest x-ray performed demonstrated a buildup of fluid with layering in the left pleural cavity. Diagnostic thoracentesis suggested an exudative etiology with cytology remarkable for 62% leukemic myeloblast. The diagnosis was confirmed by bone marrow biopsy with expression of the antigens CD 34+ and CD13+, with unfavorable cytogenetic prognosis and a trisomy 21 chromosomal defect. Chemotherapy was initiated, though no remission achieved with induction chemotherapy. Complications and disease progression precludes in the patient’s death. Although rare, due to the unusual presentation of the disease, this case clearly demonstrates the importance of biochemical analysis and cytopathology specimens obtained in pleural fluid.
Case Report: Vocal cord collapse during phrenic nerve-paced respiration in congenital central hypoventilation syndrome
Authors: Domanski Mark C , Preciado Diego A
Published: May 2013

Objective: Phrenic nerve pacing can be used to treat congenital central hypoventilation syndrome (CCHS). We report how the lack of normal vocal cord tone during phrenic paced respiration can result in passive vocal cord collapse and produce obstructive symptoms.

Methods: We describe a case of passive vocal cord collapse during phrenic nerve paced respiration in a patient with CCHS. As far as we know, this is the first report of this etiology of airway obstruction. The patient, a 7-year-old with CCHS and normal waking vocal cord movement, continued to require nightly continuous positive airway pressure (CPAP) despite successful utilization of phrenic nerve pacers. On direct laryngoscopy, the patient’s larynx was observed while the diaphragmatic pacers were sequentially engaged.

Results: No abnormal vocal cord stimulation was witnessed during engaging of either phrenic nerve stimulator. However, the lack of normal inspiratory vocal cord abduction during phrenic nerve-paced respiration resulted in vocal cord collapse and partial obstruction due to passive adduction of the vocal cords through the Bernoulli effect. Bilateral phrenic nerve stimulation resulted in more vocal cord collapse than unilateral stimulation.

Conclusions: The lack of vocal cord abduction on inspiration presents a limit to phrenic nerve pacers.
Effect of obesity on ovarian reserve parameters in mid-reproductive age women
Authors: Altaee Hanan , Al-Madfai Zaid Abdul Majeed , Alkhafaji Zainab Hassan
Published: May 2013

Background: The initiation and maintenance of reproductive functions are related to an optimal body weight in women. Body weight affects the ovarian reserve, which is basically an estimate of how many oocytes (eggs) are left in the ovaries.

Objective: To study the relationship between obesity and serum and ultrasound markers of ovarian reserve in mid-reproductive age women (21–35 years old).

Patients and methods: Twenty participants (“obese”) had a body mass index (BMI) of 30 to 35 kg/m2 and another 20 participants (“non-obese”) had a BMI 20–29 kg/m2. The obese women had a mean age of 27.9 years and the non-obese women had a mean age of 29.5 years. Blood samples were collected from all participants, anthropometric measurements were calculated, and transvaginal ultrasonography was performed to measure the antral follicle count (AFC) during the early follicular phase. The blood samples were assayed for antimüllerian hormone (AMH), follicle-stimulating hormone (FSH) and estradiol (E2).

Results: There was no significant difference between the two groups regarding ovarian reserve markers and there is no significant correlation between these markers and BMI, except for serum E2 in the obese group.

Conclusion: Obesity has no effect on the levels of serum FSH, AMH, or AFC indicating that obesity is unlikely to affect ovarian reserve in the mid-reproductive age group.
Respiratory events in patients undergoing laparoscopic gastric bypass surgery
Authors: Ziemann-Gimmel Patrick , Hensel Priscilla , Abdo Salam , Koppman John , Marema Robert
Published: May 2013

Background: The incidence of morbid obesity is increasing and has led to an increase in bariatric procedures and previous studies have shown that 71% of these patients suffer from obstructive sleep apnea (OSA). Patients with OSA have a higher rate of postoperative complications. We investigated if patients with OSA undergoing laparoscopic gastric bypass surgery have an increased risk of postoperative respiratory events. In this observational study we examined the data of 89 consecutive patients undergoing gastric bypass surgery.

Methods: All patients scheduled for gastric bypass surgery between 7/28/2010 and 02/15/2011 were enrolled and managed according to our routine clinical protocol (48 with OSA / 41 without OSA (NOSA)). Depending on the patient’s preoperative compliance with CPAP therapy, they were further assigned into a compliant (OSAc) and noncompliant (OSAn) group. A respiratory event was defined as a deviation from the regular postoperative management.

Results: Both OSA and NOSA groups were similar based on clinical characteristics and narcotic consumption. Fourteen patients (29.2%) suffered from a respiratory event in the OSA group and 8 patients (19.5%) in the NOSA group (p=0.29). Patients compliant with continuous positive airway pressure CPAP had a similar complication rate to patients without OSA (p=0.96). 53.8% of patients with OSA that were noncompliant with CPAP therapy (OSAn) had a respiratory event in the direct postoperative period. This is statistically significant in comparison to patients diagnosed with OSA that are compliant with CPAP (OSAc) (p=0.03)

Conclusion: It may be beneficial to encourage OSA patients to use CPAP preoperatively to reduce postoperative respiratory events. Furthermore, adequately treated OSA may not be an independent risk factor for postoperative respiratory events.
Major approaches in early diagnostics of common variable immunodeficiency in adults in Moscow
Authors: Karaulov Alexander V , Sidorenko Irina V , Kapustina Anna S
Published: May 2013

Common variable immunodeficiency (CVID) is a primary immunological disease characterized predominantly by hypogammaglobulinemia. The main clinical manifestations are severe recurrent infections that often lead to structural damage of affected organs. The early start of adequate intravenous immunoglobulin therapy has significantly improved the prognosis of this serious disorder. Patients with CVID are also predisposed to autoimmune and lymphoproliferative complications. This article deals with the features of this primary immunodeficiency in adults. Clinical manifestations, immunological features and treatment concepts were gathered during 21 years of observation of such patients in Moscow. The authors suggest early predictive clinical signs of CVID in adults.
ALS-linked SOD1 in glial cells enhances ß-N-Methylamino L-Alanine (BMAA)-induced toxicity in Drosophila
Authors: Islam Rafique , Kumimoto Emily L , Bao Hong , Zhang Bing
Published: May 2013

Environmental factors have been implicated in the etiology of a number of neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS). However, the role of environmental agents in ALS remains poorly understood. To this end, we used transgenic fruit flies (Drosophila melanogaster) to explore the interaction between mutant superoxide dismutase 1 (SOD1) and chemicals such as ß-N-methylamino L-alanine (BMAA), the herbicide agent paraquat, and superoxide species. We expressed ALS-linked human SOD1 (hSOD1A4V, and hSOD1G85R), hSOD1wt as well as the Drosophila native SOD1 (dSOD1) in motoneurons (MNs) or in glial cells alone and simultaneously in both types of cells. We then examined the effect of BMAA (3 mM), paraquat (20 mM), and hydrogen peroxide (H2O2, 1%) on the lifespan of SOD1-expressing flies. Our data show that glial expression of mutant and wild type hSOD1s reduces the ability of flies to climb. Further, we show that while all three chemicals significantly shorten the lifespan of flies, mutant SOD1 does not have a significant additional effect on the lifespan of flies fed on paraquat, but further shortens the lifespan of flies fed on H2O2. Finally, we show that BMAA shows a dramatic cell-type specific effect with mutant SOD1. Flies with expression of mutant hSOD1 in MNs survived longer on BMAA compared to control flies. In contrast, BMAA significantly shortened the lifespan of flies expressing mutant hSOD1 in glia. Consistent with a neuronal protection role, flies expressing these mutant hSOD1s in both MNs and glia also lived longer. Hence, our studies reveal a synergistic effect of mutant SOD1 with H2O2 and novel roles for mutant hSOD1s in neurons to reduce BMAA toxicity and in glia to enhance the toxicity of BMAA in flies.
Case Report: Pellucid-like keratoconus
Authors: Sinjab Mazen M , Youssef Lara N
Published: May 2013

Purpose: To study the tomographic features of pellucid-like keratoconus (PLK), and to report a new sign on the pachymetry map (PM) in pellucid marginal degeneration (PMD).

Patients and methods: A retrospective descriptive case series was performed in Damascus University in 2011. Clinical and tomographic findings of 15 eyes (9 patients) that had the claw pattern of the anterior sagital map (ASM) were reviewed. Patients were distributed into two groups: (1) 4 eyes were considered PMD since they had inferior corneal thinning on both slitlamp biomicroscopy and PM; (2) 11 eyes were considered as PLK since they did not show inferior corneal thinning. Patients were studied using slitlamp biomicroscopy and Scheimpflug-based tomography (Pentacam HR). The ASM, anterior elevation map (AEM) and PM were analyzed and compared to study the “kissing birds” sign, the “bell” sign, and cone location.

Results: Patients’ average age was 25.93±8.05 (16–44 years). In total, 60% of patients were male. In group 1, the AEM in the best fit sphere (BFS) mode revealed no kissing birds sign, and the cone was central in 1 eye (25%) and paracentral in 3 eyes (75%). PM showed the bell sign in 4 eyes (100%). In group 2, the AEM in the BFS mode revealed the kissing birds sign in 2 eyes (18.2%), and the cone was central in 1 eye (9.1%), paracentral in 8 eyes (72.7%) and peripheral in 2 eyes (18.2%). PM didn’t show the bell sign in any eye.

Conclusion: The claw pattern on the ASM is not a hallmark of PMD; it can be seen in PLK. Cone location does not relate to diagnosis. The “bell” sign on the PM is a deferential diagnostic sign in PMD.