Miracle-dz/UniFAR-FTUs huggingface dataset:
Renal cancer and malformations in relatives of patients with Bardet-Biedl syndrome.

BACKGROUND Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder with five loci identified thus far. The spectrum of disease includes diverse malformations of the kidney and lower urinary tract. The incidence of BBS is approximately 1/100,000 with a predicted heterozygote frequency of 1/160, and it has been suggested that heterozygotes are at increased risk of obesity and hypertension. METHODS We describe renal disease in relatives of 109 UK BBS patients. Using PCR with fluorescent microsatellite markers we amplified DNA derived from renal tumours of affected parents to determine whether there was loss of heterozygosity at any of four BBS loci and two other gene loci associated with clear cell renal cell carcinoma (CC-RCC). RESULTS CC-RCC was diagnosed in three of 180 BBS parents and there was loss of heterozygosity at BBS1 (11q13) in the tumour tissue of one of these subjects. In addition, there was a high incidence of renal agenesis in siblings of BBS patients and two BBS families were identified with apparently dominant inheritance of renal malformations. In one family we were able to demonstrate that renal malformations segregated with the BBS2 locus (16q21). CONCLUSIONS Since all parents and two-thirds of siblings of BBS patients must be heterozygous for BBS mutations, our observations may implicate BBS genes in the pathogenesis of both renal cancer and malformations, both disorders of precursor cell growth and differentiation. We suggest these observations may have important implications for screening potential BBS carriers for kidney disease and may lead to a greater understanding of the aetiology of renal disease in the general population.
On the capacity of cooperative diversity systems with adaptive modulation

In recent years, cooperative diversity systems have gained increased attention in the literature as a new way of combating the effect of signal fading. In this paper, we investigate the performance of these systems when adaptive modulation is used. More specifically, we consider the case of optimal instantaneous power and rate adaptation, optimal power adaptation with constant power, and truncated channel inversion adaptation, and study the performance of both regenerative and non-regenerative systems under Rayleigh type of fading. The performance criteria used is the channel capacity which is the maximum rate of data transmission at an arbitrarily small bit error rate.
Difference in the outcome of patients with different grades of initial sputum positivity under the Revised National Tuberculosis Control Programme.

Department of Community Medicine, R.G. Kar Medical College1, Kolkata; Department of Tuberculosis and Respiratory Diseases, LRS Institute of Tuberculosis and Respiratory Diseases2, New Delhi; Department of Community Medicine, Burdwan Medical College, Burdwan3; Department of Tuberculosis and Respiratory Diseases, Medical College and Hospital4, Kolkata and Institute of Pulmocare and Research5, Kolkata, India
The Impact of Viral Load and Time to Onset of Cytomegalovirus Replication on Long-Term Graft Survival after Kidney Transplantation

Background Asymptomatic cytomegalovirus (CMV) infection is associated with graft dysfunction and failure. However, no study assessed CMV viral load in terms of the risk for graft failure. Methods In a prospective cohort of kidney transplant recipients, we assessed the impact of CMV DNAemia on the overall graft survival and the incidence of moderate-to-severe interstitial fibrosis and tubular atrophy (IF/TA) in protocol biopsy at 36 months. CMV DNAemia was stratified by viral load in whole blood. Results A total of 180 patients transplanted from October 2003 through January 2011 were included and followed for 4 years; 87 (48%) patients received 3-month prophylaxis with valacyclovir and 45 (25%) with valganciclovir; 48 (27%) were managed by pre-emptive therapy. Within 12 months of transplantation, CMV DNAemia developed in 102 (57%) patients with 36 (20%) having a viral load of ≥2,000 copies/ml. Multivariate Cox analysis identified CMV DNAemia as an independent risk factor for graft loss (hazard ratio 3.42; P=0.020); however, after stratification by viral load, only CMV DNAemia ≥2,000 copies/ml (hazard ratio 7.62; P<0.001) remained significant. Both early-onset (<3 months; P=0.048) and late-onset (>3 months; P<0.001) CMV DNAemia ≥2,000 copies/ml were risk factors for graft loss. The incidence of moderate-to-severe IF/TA was not significantly influenced by CMV DNAemia. Conclusions Kidney transplant recipients having CMV DNAemia with a higher viral load irrespective of the time to onset are at increased risk for graft loss.
A vision for patient-centered health information systems.

-cusesmuchofitsenergyontheuseofelectronicmedi-cal records by clinicians, but the use of informationtechnology by patients carries equal promise. Out-side of health care, the public routinely uses computers andsmartphonestoaccessinformationandperformtaskswithaclickofabutton.Patientsseeksimilareaseinaccessinghealthinformation, but health care has been slow to develop infor-mation tools for patients of comparable functionality.
PLC‐dependent intracellular Ca2+ release was associated with C6‐ceramide‐induced inhibition of Na+ current in rat granule cells

In this report, the effects of C6‐ceramide on the voltage‐gated inward Na+ currents (INa), two types of main K+ current [outward rectifier delayed K+ current (IK) and outward transient K+ current (IA)], and cell death in cultured rat cerebellar granule cells were investigated. At concentrations of 0.01–100 μM, ceramide produced a dose‐dependent and reversible inhibition of INa without alteration of the steady‐state activation and inactivation properties. Treatment with C2‐ceramide caused a similar inhibitory effect on INa. However, dihydro‐C6‐ceramide failed to modulate INa. The effect of C6‐ceramide on INa was abolished by intracellular infusion of the Ca2+‐chelating agent, 1,2‐bis (2‐aminophenoxy) ethane‐N, N, N9, N9‐tetraacetic acid, but was mimicked by application of caffeine. Blocking the release of Ca2+ from the sarcoplasmic reticulum with ryanodine receptor blocker induced a gradual increase in INa amplitude and eliminated the effect of ceramide on INa. In contrast, the blocker of the inositol 1,4,5‐trisphosphate‐sensitive Ca2+ receptor did not affect the action of C6‐ceramide. Intracellular application of GTPγS also induced a gradual decrease in INa amplitude, while GDPβS eliminated the effect of C6‐ceramide on INa. Furthermore, the C6‐ceramide effect on INa was abolished after application of the phospholipase C (PLC) blockers and was greatly reduced by the calmodulin inhibitors. Fluorescence staining showed that C6‐ceramide decreased cell viability and blocking INa by tetrodotoxin did not mimic the effect of C6‐ceramide, and inhibiting intracellular Ca2+ release by dantrolene could not decrease the C6‐ceramide‐induced cell death. We therefore suggest that increased PLC‐dependent Ca2+ release through the ryanodine‐sensitive Ca2+ receptor may be responsible for the C6‐ceramide‐induced inhibition of INa, which does not seem to be associated with C6‐ceramide‐induced granule neuron death.
Simultaneous maximum a posteriori longitudinal PET image reconstruction

Positron emission tomography (PET) is frequently used to monitor functional changes that occur over extended time scales, for example in longitudinal oncology PET protocols that include routine clinical follow-up scans to assess the efficacy of a course of treatment. In these contexts PET datasets are currently reconstructed into images using single-dataset reconstruction methods. Inspired by recently proposed joint PET-MR reconstruction methods, we propose to reconstruct longitudinal datasets simultaneously by using a joint penalty term in order to exploit the high degree of similarity between longitudinal images. We achieved this by penalising voxel-wise differences between pairs of longitudinal PET images in a one-step-late maximum a posteriori (MAP) fashion, resulting in the MAP simultaneous longitudinal reconstruction (SLR) method. The proposed method reduced reconstruction errors and visually improved images relative to standard maximum likelihood expectation-maximisation (ML-EM) in simulated 2D longitudinal brain tumour scans. In reconstructions of split real 3D data with inserted simulated tumours, noise across images reconstructed with MAP-SLR was reduced to levels equivalent to doubling the number of detected counts when using ML-EM. Furthermore, quantification of tumour activities was largely preserved over a variety of longitudinal tumour changes, including changes in size and activity, with larger changes inducing larger biases relative to standard ML-EM reconstructions. Similar improvements were observed for a range of counts levels, demonstrating the robustness of the method when used with a single penalty strength. The results suggest that longitudinal regularisation is a simple but effective method of improving reconstructed PET images without using resolution degrading priors. S Ellis and A J Reader Simultaneous maximum a posteriori longitudinal PET image reconstruction Printed in the UK 6963 PHMBA7 © 2017 Institute of Physics and Engineering in Medicine 62 Phys. Med. Biol.
Cost-Effectiveness of Interventions to Reduce Vertical HIV Transmission from Pregnant Women Who Have Not Received Prenatal Care

To evaluate the cost-effectiveness of rapid HIV testing followed by treatmentwith zidovudine, nevirapine, or combination therapy for women presenting in the United States in active labor without prenatal care, the authors developed a decision analytic model from a societal perspective comparing 2 basic strategies: 1) not testing for HIV and 2) offering rapid HIV testing and treatment to women testing positive. HIV transmission rates, test characteristics, and costs were derived from the literature and local sources. Outcomes included number of infected infants, costs, and incremental cost-effectiveness in dollars per quality-adjusted life year saved. The authors found that offering rapid HIV testing and administering zidovudine treatment to women testing positive would prevent 27 cases of HIV each year and save $3,000,000/year compared with no intervention. If more expensive treatments were used (e.g., zidovudine rather than nevirapine, or combination therapy rather than monotherapy), the relative risk reduction in HIV transmission for the more expensive strategies would need to be only slightly better to make the more expensive strategies relatively costeffective in comparison with the less expensive strategies. In an analysis including empiric nevirapine prophylaxis, the authors found that empiric therapy would prevent 32 HIV cases and save $2.1million per year compared with no intervention. In conclusion, rapid HIV testing and treatment for women presenting in labor without prior prenatal care would prevent HIV infections and save costs. At sites where rapid HIV testing is not possible, empiric treatment would also prevent HIV infection and saves costs and is thus preferred to a strategy of neither testing nor treating. Effectiveness in reducing transmission drives the cost-effectiveness ratio much more so than drug cost and should be the basis on which a particular prophylactic regimen is selected.
Surgical approaches and outcomes in the treatment of gastric cancer.

Resection with extended lymphadenectomy in obtaining local-regional control with negative margins remains the only potentially curative modality in the treatment of gastric cancer. Complete (R0) resections, along with depth of invasion and adequate nodal staging, remain the most important prognostic factors. Because current chemotherapy regimens have limited benefit in advanced disease, the effectiveness of local-regional modalities takes on greater significance. The extent of surgical resection varies with the size, depth, location of the primary tumor, and the stage of disease. Studying patterns of recurrent disease and elucidating the impact of positive margins have led to insights into the biology of the disease and the limitations of local-regional therapies. Considerable controversy surrounds the notion of what defines an adequate lymph node dissection (LND). The recommendation of routine extended (D2) lymphadenectomy (ELND) is difficult to justify based on available randomized studies, but ELND may benefit selected patients when performed by surgeons who can accomplish the dissection with acceptable morbidity/mortality rates. An extended LND results in improved staging, allowing standardization of prognostic factors and survival data worldwide. Patient selection remains critical, limiting the role of surgery in advanced disease and reserving aggressive surgical resection for patients with high curative potential.
Characterization of Urban Stormwater Runoff in Tianjin

Characterization of urban stormwater runoff was carried out in commercial, residential and cultural and educational zones during 2009 rainy season in Tianjin. The pH, DO, BOD5, COD, TOC, TSS, TN, TP, NH3-N, As, Pb, Zn, Cd, LAS and fecal coliforms in stormwater runoff were analyzed. The ranges of arithmetic mean concentration of COD, TSS, TN, LAS and fecal coliforms were 67-331mg/L, 134-480 mg/L, 4.00-4.69 mg/L, 1.53-11.12 mg/L, 3.03×108-6.46×109 cfu/100mL respectively, depending on the type of land using . In conclusion, COD, TSS, TN, LAS and fecal coliforms were the major runoff pollutants. The sequence of surface runoff pollution was in the following order: commercial zone > residential zone > cultural and educational zone in terms of the major pollutants. On the meantime, the results indicated that the urban non-point source pollution played an important part in the decreasing of water quality after analyzing the changes of quality in receiving waters.
Prevalence of Urinary Schistosomiasis among Primary School Children in Afikpo North Local Government Area of Ebonyi State

This study was conducted to determine the prevalence of urinary schistosomiasis among primary school children of 5-15 years old in Afikpo North Local Government Area of Ebonyi State. Out of five hundred (500) pupils that were randomly selected for the study, 236 pupils were males and 264 were females. The samples collected for the study were urine. The samples were analyzed in the laboratory using sedimentation/centrifugation technique. The prevalence of infection of S. haematobium in the area was 49 (9.8%); out of which 33 (14.0%) cases were recorded for males and 16 (6.1%) was recorded for females. The prevalence of the infection in the study area was moderate. The highest prevalent rate of S. haematobium infection was observed in age bracket 8-10 years (14.5%), whereas 5- 7 years had the lowest prevalent rate of 5.8%. No case of infection was found the pupils using borehole water. Two (2) and 10 cases of infection were found among the pupils using well, and pond water respectively, giving the prevalence of 2.0% and 16.7%, respectively. Thirty-seven (37) cases of infection were found among the pupils using stream water with the prevalence o f 18.5% to control urinary schistosomiasis, it is therefore recommended that Schistosomiasis Control Program in the state should be geared towards creating awareness in the people in order to reduce the infection rate.
The effect of acetone addition on the properties of epoxy

In this work, a varied amount of acetone was employed to dissolve an epoxy resin and then a route was followed to remove the acetone, simulating a frequently used method to disperse nanofillers in thermoset matrices. Analyses were then carried out to address the influence of residual acetone on the curing process and on the epoxy properties. The results showed a detrimental effect on the mechanical properties of the cured epoxy due to the presence of residual acetone and also a less brittle-like fracture of the specimen. Fourier transform infrared spectroscopy and thermogravimetric analyses were additionally used to characterize the cured resins and have also indicated the presence of a small amount of acetone. Nevertheless, rheological measurements indicated that 10.0 wt. % acetone addition on the resin causes a significant decrease in viscosity (around 50%) which may promote a better dispersion of nanofillers.
Enhancing Therapeutic Radiation Responses in Multiple Myeloma

Multiple myeloma (MM) is hematologic malignancy characterized by the accumulation of malignant plasma cells in the bone marrow. The annual incidence of newly diagnosed MM cases in the United States is 3 to 4 per 100,000 people and accounts for approximately 1% of all malignant diseases (Jemal et al., 2011). MM is diagnosed at an advanced stage in 95% of patients and the median age at diagnosis is 65 years. It is a progressive malignancy that begins with monoclonal gammopathy of undetermined significance (MGUS), progresses to asymptomatic or smoldering myeloma and then symptomatic MM. MGUS is a disorder that exhibits clonal proliferation of plasma cells and can eventually evolve into MM or other Bcell disorders (Landgren et al., 2011). Clinically, patients with symptomatic myeloma have 10% or more malignant plasma cells in bone marrow, abnormal levels of serum free light chain, osteolytic bone disease, and show damage to other tissues or organs. Smoldering myeloma has the same plasma cell and M-protein characteristics of symptomatic but lacks evidence of organ damage. A rare type of MM, nonsecretory myeloma, has no detectable Mprotein and accounts for only 1-5% of MM cases. Solitary plasmacytoma is a plasma cell neoplasm that has a single bone or extramedullary lesion (Mendenhall et al., 2003). MM is characterized by significant heterogeneity at the molecular level (Herve et al., 2011) and the bone marrow microenvironment plays an active role in supporting tumor growth, angiogenesis, bone disease, and drug resistance (Anderson and Carrasco, 2011). The disease initially responds to alkylating agents, corticosteroids, and thalidomide but eventually becomes refractory (Sirohi and Powles, 2004). High dose melphalan combined with peripheral blood stem cell transplant has improved the response rate in myeloma patients, but is not curative (Fassas and Tricot, 2001). To date, MM remains uniformly fatal with a median survival of approximately 50 months after diagnosis.
Key questions in Vitamin D research

Abstract Despite interest and expanding research on non-bone health outcomes, the evidence remains inconclusive concerning the causal role of vitamin D in the non-bone health outcomes. To improve our understanding of its role, research needs to address five key areas related to vitamin D: 1) its physiology and molecular pathways. 2) its relationship to health outcomes. 3) its exposure-response relationships, 4) its interactions with genotype and other nutrients and 5) its adverse effects. Its metabolism needs to be elucidated including extra-renal activation and catabolism, distribution and mobilization from body pools, kinetics of this distribution, and their regulation during pregnancy and lactation. Rigorous, well-designed randomized clinical trials need to evaluate the causal role of vitamin D in a diverse array of non-bone health and chronic disease outcomes across the life cycle and reproductive states. Critically needed is the determination of the exposure-response, inflection and threshold of serum 25(OH)D concentrations relative to functional and health outcomes. The dose-response relationships of standardized measures of serum 25(OH)D need to be understood in response to low and high doses of total vitamin D with careful consideration of confounding factors including catabolic rates. How do relevant genetic polymorphisms, dietary calcium and phosphate and potentially dietary cholesterol interact with vitamin D exposure on its bioavailability, transport, distribution in body pools, metabolism and action as well as on bone and non-bone health outcomes? The nature and mechanisms of U-shaped risk relationships with adverse health outcomes at higher exposure to vitamin D needs elucidated across the life cycle and reproductive stages.
Asymmetric dimethylarginine in the assessment of febrile neutropenia in hematological patients

Abstract Asymmetric dimethylarginine (ADMA) has been recognized as an independent prognostic factor for sepsis mortality in intensive care units. No data are available on kinetics or prognostic value of ADMA in hematological patients. We evaluated the ability of ADMA to act as a predictor for complicated course of febrile neutropenia, defined as bacteremia and/or septic shock in adult hematological patients receiving intensive chemotherapy. This prospective study included 87 adult hematological patients with febrile neutropenia after an intensive chemotherapy for acute myeloid leukemia (AML) or after an autologous stem cell transplantation (ASCT). Plasma ADMA and serum C-reactive protein (CRP) levels were measured from the onset of fever (d0) and for 2 days (d1–d2) thereafter. The levels of ADMA were stable or had only minimal changes during the study period. There was no difference between the levels at any time-point in patients having complicated course compared to those without it. On the other hand, CRP levels were significantly higher on d1 (p = 0.016) in patients with bacteremia and/or septic shock than in those without. ADMA was not able to differentiate hematological patients with a complicated course from those without complications. Elevated ADMA levels are probably associated with organ dysfunction, which is rare in this group of patients, of whom about 95% can be successfully managed at the hematology ward.
Specific Enhancement by Fentanyl of the Effects of Intrathecal Bupivacaine on Nociceptive Afferent But Not on Sympathetic Efferent Pathways in Dogs

BackgroundBupivacaine alone, or in combination with opioids, has been shown to provide adequate pain relief without motor paralysis. This study examined the effects of bupivacaine administered intrathecally on sympathetic efferent and Aδ- and C-fiber-mediated afferent pathways in dogs and the interactions with intrathecal fentanyl. MethodsSpontaneous activity in renal sympathetic nerves was observed, as were reflex somatosympathetic responses mediated by Aδ and C fibers evoked by supramaximal electrical stimulation of the tibial and radial nerve. Bupivacaine was administered intrathecally in doses of 0.5, 1, 2, and 3.5 mg, each in 0.5 ml, and 7 mg in 1 ml with or without pretreatment with 5.4 mg intrathecal fentanyl (ED25 for depression of C tibial reflexes) in each of five preparations. ResultsBupivacaine caused a dose-dependent inhibition of both Aδ- and C-fiber-mediated somatosympathetic responses evoked by tibial nerve stimulation. The depression of radial and tibial nerve reflexes and spontaneous renal sympathetic activity was similar. Pretreatment with fentanyl (5.4 μg, intrathecally) depressed tibial C-fiber reflexes by only 23.8% without any significant effect on either tibial Aδ or radial Aδ and C fiber responses. Fentanyl markedly enhanced the effect of subsequent doses of bupivacaine on tibial Aδ and C reflexes without any additional effect on either spontaneous sympathetic activity or radial responses. ConclusionsIntrathecal bupivacaine has no selectivity for the afferent and efferent pathways, and intrathecal fentanyl acts synergistically to enhance the effect of bupivacaine on the afferent pathway without a measurable effect on sympathetic outflow.