Miracle-dz/UniFAR-FTUs huggingface dataset:
Familial Paget's Disease of Bone: Nonlinkage to the PDB1 and PDB2 Loci on Chromosomes 6p and 18q in a Large Pedigree

Paget's disease of bone is a common condition characterized by bone pain, deformity, pathological fracture, and an increased incidence of osteosarcoma. Genetic factors play a role in the pathogenesis of Paget's disease but the molecular basis remains largely unknown. Susceptibility loci for Paget's disease of bone have been mapped to chromosome 6p21.3 (PDB1) and 18q21.1‐q22 (PDB2) in different pedigrees. We have identified a large pedigree of over 250 individuals with 49 informative individuals affected with Paget's disease of bone; 31 of whom are available for genotypic analysis. The disease is inherited as an autosomal dominant trait in the pedigree with high penetrance by the sixth decade. Linkage analysis has been performed with markers at PDB1; these data show significant exclusion of linkage with log10 of the odds ratio (LOD) scores < −2 in this region. Linkage analysis of microsatellite markers from the PDB2 region has excluded linkage with this region, with a 30 cM exclusion region (LOD score < −2.0) centered on D18S42. These data confirm the genetic heterogeneity of Paget's disease of bone. Our hypothesis is that a novel susceptibility gene relevant to the pathogenesis of Paget's disease of bone lies elsewhere in the genome in the affected members of this pedigree and will be identified using a microsatellite genomewide scan followed by positional cloning.
Characterization of 39 novel EST-SSR markers for Liriodendron tulipifera and cross-species amplification in L. chinense (Magnoliaceae).

PREMISE OF THE STUDY A novel set of simple sequence repeat (SSR) markers were developed and characterized from the expressed sequence tag (EST) database of Liriodendron tulipifera for application in population genetic studies of Liriodendron. METHODS AND RESULTS Thirty-nine polymorphic EST-SSR loci were identified among 27 individuals sampled from a cultivated population of L. tulipifera. The number of alleles per locus ranged from three to 18. The average observed heterozygosity and expected heterozygosity were 0.684 and 0.778, respectively. Of the 39 loci, 32 showed interspecific transferability and polymorphism in a related species, L. chinense. The number of alleles per locus ranged from two to 11, and the average observed heterozygosity and expected heterozygosity were 0.475 and 0.736, respectively. CONCLUSIONS The developed EST-SSR markers will be useful for investigating adaptive genetic differentiation in Liriodendron.
Plasma Nitrate/Nitrite (NOx) Is Not a Useful Biomarker To Predict Inherent Cardiopulmonary Bypass Inflammatory Response

Plasma Nitrate/Nitrite (NOx) Is Not a Useful Biomarker To Predict Inherent Cardiopulmonary Bypass Inflammatory Response Miguel Ángel Palomero Rodrı́guez, M.D.,∗ Luis Marı́a Cacharro Moras, M.D.,† Luis Suárez Gonzalo, M.D.,∗ Isidro Moreno Gómez Limón, M.D.,∗ and Faustino Mollinedo, Ph.D.† From the ∗Department of Anesthesiology. La Paz University Hospital, Madrid, Spain; and †Centro de Investigación del Cáncer, Instituto de Biologı́a Molecular y Celular del Cáncer, Consejo Superior de Investigaciones Cientı́ficas (CSIC), Universidad de Salamanca, Salamanca, Spain
Molecular architecture and function of the Omp85 family of proteins

Omp85 is a protein found in Gram‐negative bacteria where it serves to integrate proteins into the bacterial outer membrane. Members of the Omp85 family of proteins are defined by the presence of two domains: an N‐terminal, periplasmic domain rich in POTRA repeats and a C‐terminal beta‐barrel domain embedded in the outer membrane. The widespread distribution of Omp85 family members together with their fundamental role in outer membrane assembly suggests the ancestral Omp85 arose early in the evolution of prokaryotic cells. Mitochondria, derived from an ancestral bacterial endosymbiont, also use a member of the Omp85 family to assemble proteins in their outer membranes. More distant relationships are seen between the Omp85 family and both the core proteins in two‐partner secretion systems and the Toc75 family of protein translocases found in plastid outer envelopes. Aspects of the ancestry and molecular architecture of the Omp85 family of proteins is providing insight into the mechanism by which proteins might be integrated and assembled into bacterial outer membranes.
Ketamine does not inhibit interleukin-6 synthesis in hepatic resections requiring a temporary porto-arterial occlusion (Pringle manoeuvre): a controlled, prospective, randomized, double-blinded study.

INTRODUCTION Previous studies have shown that interleukin-6 (IL-6) levels correlated with mortality in critically ill patients. GOAL To determine the effect of ketamine on IL-6 levels in liver resections patients with a temporary porto-arterial occlusion (Pringle manoeuvre). MATERIALS AND METHODS Controlled, prospective, randomized, double-blinded study. One group (n = 21) received ketamine whereas the other group (n = 17) received placebo. IL-6 levels were obtained at baseline, 4, 12, 24 h, 3 and 5 days. RESULTS There were no significant differences in IL-6 levels between the groups (basal P = 089, 4 hP = 0.83, 12 h P = 0.39, 24 h, P = 0.55, 3 days P = 0.80 and 5 days P = 0.45). Both groups had elevated IL-6 levels that became almost undetectable by day 5. There was no major morbidity and no mortality in either group. CONCLUSIONS Ketamine does not seem to have an effect on plasma levels of IL-6. This could be interpreted as a potential finding associated with outcome as we did not encounter any deaths or major complications. Further studies will likely be needed to determine the range of IL-6 levels associated with survival and mortality, and whether it could be a predictor of survival.
SLIME AS A POSSIBLE FACTOR IN CELL CLUMPING IN NOCARDIA CORALLINA

Work on the nuclear cytology and life cycle of Nocardia corallina has previously been reported (Webb et al., 1954; Webb and Clark, 1957; Clark and Frady, 19.57). Extensive studies on the radiation response, physiology, and genetics of this organism have also been carried ouit in this laboratory. Throughout this work, one of the main problems involved in the experimental approach has been the elimination of clumps of cells, since N. corallina forms large, tenacious clumps of cells under all environmental conditions. The presence of large numbers of cell aggregates interfered with many experimental approaches, and this investigation was undertaken to determine if clumping could be minimized.
Marks of Distinction

In examining how framing influences an audience’s appreciation of products, practices, and people, including the framer, we take the perspective of the audience that evaluates the framing. We examine the effects of framing on evaluations when audiences are exposed to a multiplicity of frames, both by the same actor as the result of recurrent communications over time and by multiple actors who vie for attention. Using 36,012 research reports by securities analysts, covering the biotechnology and pharmaceutical industry between 1989 and 2012, we tested the relationships between analysts’ framing repertoires and professional investors’ evaluations of analysts as measured in the publication of Institutional Investor’s short list of the best analysts of the year. We found that investors appreciate analysts with framing repertoires that resonate with their needs, that are internally coherent over time, and that offer a moderate amount of novelty in comparison to others’ framings. We also found that framing is particularly important for analysts without existing high status, that is, who have never before been recognized as stars or who cannot benefit from association with a prestigious employer.
Chronic lymphocytic leukemia presenting in association with aplastic anemia

An unusual case of chronic lymphocytic leukemia presenting in association with aplastic anemia is discussed, along with a review of the few previously reported cases. Possible humoral and cellular autoimmune mechanisms are examined as possible causes of marrow aplasia in this setting. Am. J. Hematol. 71:323–327, 2002. © 2002 Wiley‐Liss, Inc.
5‐MCA‐NAT does not act through NQO2 to reduce intraocular pressure in New‐Zealand white rabbit

Abstract: Solid data support the idea that the MT3 melatonin binding site is an enzyme, quinone reductase 2 (NQO2), rather than a membrane melatonin receptor. However, the melatonin analogue, 5‐methoxycarbonylamino‐N‐acetyltryptamine (5‐MCA‐NAT), reduces intraocular pressure (IOP) via MT3 melatonin receptors. Therefore, the aim of this work was to test whether the melatonin binding site, MT3, is indeed the enzyme NQO2 in New Zealand rabbit eyes. To investigate this, the action of several substrates and inhibitors for NQO2 was compared to 5‐MCA‐NAT in their ability to modify IOP. Also, the effect of 5‐MCA‐NAT on IOP produced after NQO2 silencing by means of a siRNA was determinated. Altogether, the results led us to conclude that the in vivo effect of the MT3 ligand 5‐MCA‐NAT on IOP is not mediated by the enzyme NQO2, suggesting the existence of another melatonin receptor.
Predictors of Communication Quality: The Patient, Provider, and Nurse Call Center Triad

The purpose of this studywas to examine characteristics of communication quality in a managed care context in which a nurse call center was used as the patient point of entry to the health system. The study sought to determine the level of communication quality among patients, health care providers, and nurses in the call center. Having measured the timeliness, accuracy, usefulness, and quantity of communication variables, a reasonable picture of communication quality emerged. The study explored patient differences in their perception of communication quality due to socioeconomic status, needs, experience, age, and various other factors. Likewise, providers who differ in training, specialty, and experience should have different perceptions and expectations of communication through nurse call center interaction.
Pica responding to SSRI: An OCD spectrum disorder?

Pica is a common disorder in childhood, however, in adults it is associated with mental retardation, psychosis and pregnancy. A few case reports have described it being associated with obsessive compulsive disorder in adults. We describe the case of an adult female patient who developed an impulse to ingest chalk only in stressful situations. These thoughts were ego-dystonic and kept on hammering her mind until she ate it. She was diagnosed as having Major Depressive Disorder with relational problems and pica. We prescribed her escitalopram with clonazepam and asked her to ventilate her feelings during stressful situations. Her depression improved within three weeks, with remarkable improvement in pica symptoms. We concluded that stress may induce the pica in some adults and that such feelings have impulsive/compulsive characters. In addition, appropriate management of stress may help to alleviate the symptoms of pica.
Trabeculectomy With Mitomycin C Versus Ahmed Glaucoma Implant With Mitomycin C for Treatment of Pediatric Aphakic Glaucoma

PurposeTo compare trabeculectomy with mitomycin C (T+MMC) and Ahmed glaucoma implant with MMC (AGI+MMC) in treatment of aphakic glaucoma in children below 16 years of age. DesignRandomized clinical trial. ParticipantsSubjects less than 16 years of age who had previously undergone anterior lensectomy and vitrectomy for treatment of congenital cataract with unresponsive aphakic glaucoma (at least on 2 medications) were allocated in 2 groups: trabeculectomy with MMC (group A, 15 eyes) and AGI (group B, 15 eyes). MethodsFifteen eyes in each group underwent T+MMC or AGI+MMC. Complete and qualified success were defined as 5≤intraocular pressure≤21 mm Hg without and with medication, respectively. Main Outcome MeasuresIntraocular pressure, visual acuity, and complications. ResultsComplete and qualified success rates were 33.3% and 40% in T+MMC group versus 20% and 66.7% in AGI+MMC group, respectively (P=0.36). Mean follow-up was 14.8 and 13.1 months and complication rates were 40% and 26.7% (P=0.44), respectively. ConclusionsT+MMC and AGI+MMC are comparable in terms of success rate and complications in pediatric aphakic glaucoma. PrecisThis randomized clinical trial demonstrated comparable safety and efficacy for MMC trabeculectomy and AGI in the treatment of pediatric aphakic glaucoma.
Preschool Vision Screening in Pediatric Practices

A national sample of pediatricians was surveyed to evaluate preschool vision screening practices (response rate 55%, 377 of 690 eligible respondents). The rate of acuity screening for 3- year-old children was low (35%), but increased for 4- (73%) and 5-year-old children (66%). Few used photoscreening or autorefraction (8%). Common barriers were that screening is too time-consuming and children are uncooperative. Half reported that there should be separate reimbursement for vision screening. Financial incentives may be important for ensuring the delivery of preschool vision screening, as well as adoption of emerging screening technologies if such devices are shown to be effective.
Behavioral evidence of hunting and foraging techniques by a top predator suggests the importance of scavenging for preadults

Abstract Scavenging may be a regular feeding behavior for some facultative raptor species occupying low quality habitats and/or with little experience in hunting techniques. However, its importance has been largely underestimated due to methodological limitations in identifying the real proportion in the diet. Here, through direct observations, we assessed the hunting and foraging success of the threatened Spanish imperial eagle Aquila adalberti determining the influence of age, sex, breeding status, habitat quality, prey type, and landscape characteristics. From 465 observations, Spanish imperial eagles used hunting in flight (42%), scavenging (30%), hunting from a perch (16%) and kleptoparasitism (12%). Our model suggests that Prey size and Prey type best explain hunting success, followed by Landscape and Sex. Our findings suggest that Spanish imperial eagles increase hunting success with age, with scavenging and kleptoparasitism regularly used as juveniles. The absence of relationships with any of the variables considered suggests that kleptoparasitism is an opportunistic behavior used sporadically. Scavenging is also independent of habitat quality and landscape characteristics. Accordingly, low prey density is not a driver of carrion use for preadult individuals, suggesting that a lack of hunting ability obliges this age‐class to use this alternative feeding technique regularly. As a result, the threatened Spanish imperial eagle population is also prone to mortality related to the illegal use of poison baits and, potentially, veterinary drugs (i.e., diclofenac).
Reducing irinotecan‐associated diarrhea in children

Irinotecan is increasingly being used in pediatric oncology. Amelioration of diarrhea associated with protracted irinotecan administration may reduce morbidity and improve dose intensity. In this review, we discuss what is known about the pathogenesis of this toxicity as well as potential predisposing genetic factors. We comprehensively summarize the literature regarding available prevention and treatment strategies, and report data on the use of cephalosporin prophylaxis in 51 patients treated on various pediatric trials. This approach is feasible in children and allows for tolerance of higher doses of protracted irinotecan. Pediatr Blood Cancer 2008; 50:201–207. © 2007 Wiley‐Liss, Inc.
Distinct Phenotype of Early Childhood Inflammatory Bowel Disease

Goals Our goals were to answer 2 questions: (1) Is the presentation of early-onset inflammatory bowel disease (IBD) similar to typical adolescent-onset IBD? (2) Is there variability in familial aggregation in childhood IBD? Background The phenotype of IBD in children under 5 years of age (early-onset) is poorly defined. Clinical and genetic studies of IBD, however, generally assume the phenotype to be homogenous throughout childhood. Study We analyzed data from 413 consecutive pediatric IBD outpatients attending our center between 1995 and 2000. Disease type, anatomic distribution, and family history were compared between children presenting before (early-onset) and after the age of five (5 to 15 y). Results Disease presentation was predominantly colonic in early-onset IBD, most patients presenting with ulcerative colitis (UC). Isolated colonic disease was most frequent in early-onset Crohn disease (colonic 76.5%, ileocolic 24%) compared with ileocolic disease (ileocolic 45.5%, colonic 26%, ileal 19.4%, proximal 6.3%) in the older age group. First-degree family history was highest in early-onset UC 26% versus 11% in the older UC group. Conclusions We describe a distinct phenotype of early childhood onset IBD, with a strikingly high familial aggregation in UC and greater tendency to present with colonic disease. As more genetic heterogeneity is identified in IBD, careful definition of phenotype is required to identify further susceptibility genes. The early-onset form of UC presents an ideal group for further genetic analysis. These phenotype differences also suggest that treatment and outcome may vary in early-onset childhood IBD; prospective studies are required to confirm this.
Phytochemical Composition, Safety and Hypoglycemic Activity of Purple tea and Guava Extracts in a Mouse Model of Diabetes Mellitus

xvi CHAPTER ONE . 1 1.0 INTRODUCTION. 1 1.1 Background of the study . 1 1.2 Statement of the problem. 3 1.3 Justification . 4 1.4 Null Hypothesis . 5 1.5 Research questions. 6 1.6 Broad objective . 6 1.7 Specific objectives . 6
Mitogenic effect of gastrin and expression of gastrin receptors in duct-like cells of rat pancreas.

BACKGROUND & AIMS Ductular metaplastic cells are observed during pancreas injury. Growth control by gastrin and expression of gastrin/cholecystokinin (CCK) B receptors were evaluated in these cells. METHODS Acinoductal transdifferentiation was induced in vitro by culturing of acinar cells, and ductular metaplasia was obtained in vivo by ligation of the pancreatic ducts. Mitogenic effects of gastrin I on ductal complexes in vivo and of tetragastrin, pentagastrin, and gastrin I and II, with or without the CCK-B receptor antagonist L-365,260, on duct-like cells in vitro were analyzed by 5-bromo-2'-deoxyuridine labeling. Immunocytochemistry, Western blotting, and reverse-transcription polymerase chain reaction were applied for detection of the CCK-B receptor. RESULTS Gastrin analogues induced a mitogenic stimulus in the duct-like cells in vitro and in ductal complexes in duct-ligated rat pancreas. Immunocytochemistry showed expression of CCK-B receptors in these models and in fetal but not normal adult exocrine pancreas. Additionally, up-regulation of CCK-B receptors during ductular metaplasia was shown by Western blotting and reverse-transcription polymerase chain reaction. CONCLUSIONS Duct-like pancreatic epithelial cells in vitro and ductal complexes in vivo express gastrin/CCK-B receptors and proliferate in response to gastrin.
Factors Associated with Liver Fibrosis in Intravenous Drug Users Coinfected with HIV and HCV

Background Reliable non-invasive methods for the evaluation of liver fibrosis are desirable, and the risk factors associated with fibrosis are not fully identified. Methods A cross-sectional study of a cohort of 805 HIV–HCV-coinfected patients with active HCV replication, most (95.2%) of whom were intravenous drug users, was conducted. Liver fibrosis was measured by transient elastometry with cutoff values of 7.2 kPa (significant fibrosis), 9.4 kPa (advanced fibrosis) and 14.0 kPa (cirrhosis), and by liver fibrosis indexes (LFI; APRI, Forns and FIB-4). Available liver biopsies were also evaluated. Results The prevalences of significant fibrosis, advanced fibrosis and cirrhosis were 55.8%, 38.4% and 23.5%, respectively. A number of parameters were associated both in the univariate and multivariate analyses with each of the diverse fibrosis groups; however, only six of them were predictive of all stages of fibrosis: heavy alcohol intake (odds ratio [OR] 3.37, 95% confidence interval [CI] 2.02–5.59; P<0.001), duration of HCV infection (OR 1.13, 95% CI 1.07–1.19; P<0.001), CDC category C3 (OR 1.80, 95% CI 1.07–3.02; P=0.026), anti-HCV treatment failure (OR 4.37, 95% CI 2.24–8.55; P<0.001), thrombocytopaenia (OR 1.015, 95% CI 1.011–1.019; P<0.001) and increased aspartate aminotransferase (1.006, 95% CI 1.0021–1.010; P=0.004). Furthermore, 53%, 68% and 80% of patients with significant fibrosis, advanced fibrosis and cirrhosis, respectively, had increased measures on at least one of the LFI, with the Forns index being the most sensitive. Area under the receiver operating characteristic curves of elastometry to predict histological fibrosis was 0.83 (95% CI 0.76–0.90), 0.89 (95% CI 0.83–0.95) and 0.87 (95% CI 0.80–0.94) for Metavir score ≥F2, ≥F3 and F4, respectively. Conclusions Elastometry constitutes a useful tool in the diagnosis and follow-up of HIV–HCV-coinfected patients. Fibrosis is associated with diverse factors, some of them treatable or preventable, which need to be addressed considering the high prevalence and course of fibrosis in these patients.
Stronger left-hemisphere lateralization in older versus younger adults while processing conventional metaphors

Thirty younger (age 20–30) and 30 older (age 69–85) right-handed Hebrew speakers performed a semantic judgement task while processing literal word pairs and conventional metaphors, presented in the divided visual field paradigm. Older adults responded more accurately to conventional metaphors in the right visual field/left hemisphere versus the left visual field/right hemisphere, whereas younger adults showed no lateralization. Vocabulary scores cancelled group differences in lateralization. An additional lexical decision task replicated the main finding of left-hemisphere lateralization in older but not in younger participants. We suggest that accumulated knowledge increases left-hemisphere lateralization on tasks of language comprehension in older relative to younger adults.
Athletic Identity and Its Relation to Exercise Behavior: Scale Development and Initial Validation

One’s athletic identity, developed and maintained by others as well as the self, is likely important in sustaining long-term physical activity over many years. The 21-item Athletic Identity Questionnaire (AIQ) is presented as a multidimensional measure of the components of athletic identity that reflects an attribute all people possess to varying degrees and encompasses exercise, sports, and physical activity. Confirmatory factor analyses in two samples of young adults (n = 446 and 485) supported a first-order model of four correlated factors: athletic appearance; importance of exercise/ sports/ physical activity; competence; and encouragement from others. A latent factor of physical activity with two indicators—stage of exercise behavior and exercise frequency per week—correlated significantly with the four athletic identity factors in both samples (r = 0.57‐0.89 in Sample 1, r = 0.56‐0.90 in Sample 2), and this 5-factor measurement model also represented an adequate fit. Results provide support for the reliability and validity of the AIQ.