Miracle-dz/UniFAR-FTUs huggingface dataset:
Comparison of the clinical scoring systems in Silver–Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing

Background About half of all children with a clinical diagnosis of Silver–Russell syndrome (SRS) have a detectable molecular genetic abnormality (maternal uniparental disomy of chromosome upd(7)mat or hypomethylation of H19 differentially methylated region (DMR). The selection of children for molecular genetic testing can be difficult for non-specialists because of the broad phenotypic spectrum of SRS and the tendency of the facial features to mitigate during late childhood. Several clinical scoring systems for SRS have been developed by specialist researchers, but the utility of these for guiding molecular genetic testing in routine clinical practice has not been established. Objectives To evaluate the utility of four published clinical scoring systems for genetic testing in a cohort of patients referred to a clinical service laboratory. Patients Individuals with suspected SRS referred for molecular genetic testing of H19 DMR methylation status or upd(7)mat. Results 36 of 139 (25.9%) patients referred for testing had a genetic abnormality identified. Comparison of four published clinical scoring systems demonstrated that all included subjective criteria that could be difficult for the general clinician to assess. We developed a novel, simplified, scoring system utilising four objective, easily measured parameters that performed similarly to the most sensitive and specific published scoring system. Discussion Effective utilisation of genetic testing by clinicians without specialist clinical genetics training will be facilitated by the development of targeted testing protocols that are based on robust objective clinical features and are designed for use in a busy clinical practice rather than a research setting.
Effects of gestation and birth weight on the growth and development of very low birthweight small for gestational age infants: a matched group comparison

AIMS To investigate the effects of small for gestational age (SGA) in very low birthweight (VLBW) infants on growth and development until the fifth year of life. METHODS VLBW (< 1500 g) infants, selected from a prospective study, were classified as SGA (n = 115) on the basis of birth weight below the 10th percentile for gestational age and were compared with two groups of appropriate for gestational age (AGA) infants matched according to birth weight (AGA-BW; n = 115) or gestation at birth (AGA-GA; n = 115). Prenatal, perinatal, and postnatal risk factors were recorded, and duration and intensity of treatment were computed from daily assessments. Body weight, length, and head circumference were measured at birth, five and 20 months (corrected for prematurity), and at 56 months. General development was assessed at five and 20 months with the Griffiths scale of babies abilities, and cognitive development at 56 months with the Columbia mental maturity scales, a vocabulary (AWST) and language comprehension test (LSVTA). RESULTS Significant group differences were found in complications (pregnancy, birth, and neonatal), parity, and multiple birth rate . The AGA-GA group showed most satisfactory growth up to 56 months, with both the AGA-BW and SGA groups lagging behind. The AGA-GA group also scored significantly more highly on all developmental and cognitive tests than the other groups. Developmental test results were similar for the SGA and AGA-BW groups at five and 20 months, but AGA-BW infants (lowest gestation) had lower scores on performance intelligence quotient and language comprehension at 56 months than the SGA group. When prenatal and neonatal complications, parity, and multiple birth were accounted for, group differences in growth remained, but differences in cognitive outcome disappeared after five months. CONCLUSIONS Being underweight and with a short gestation (SGA and VLBW) leads to poor weight gain and head growth in infancy but does not result in poorer growth than in infants of the same birth weight but shorter gestation (AGA-BW) in the long term. SGA is related to early developmental delay and later language problems; however, neonatal complications may have a larger detrimental effect on long term cognitive development of VLBW infants than whether they are born SGA or AGA.
Voices of Mexican American Caregivers for Family Members With Cancer

This grounded theory study report describes the experience of 34 Mexican American (MA) female caregivers who provided care to a family member with cancer. Caregivers identified a process of “Becoming Stronger” as a result of their caregiver role. The emerging theoretical model of female MA cancer caregiving offers evidence to change current cancer care approaches from patient-focused to family-focused care for this ethnic group. Findings suggest that changes most responsive to cultural values and likely to provide accessible and quality cancer care for MA families are those that involve active partnering with MA caregivers to prioritize the patient's cancer care.
Reproductive performance and estimates of labor requirements associated with combinations of artificial insemination and natural service in swine.

A study was conducted to examine effects of mating systems composed of natural service (NS) and AI in swine on farrowing rate, litter size, and labor requirements. Sows and gilts were bred once per day via one of the following treatments (d 1/d 2): NS/NS, NS/AI, AI/AI, and NS/none. Gilts bred with NS/AI, AI/AI, and NS/NS had higher (P less than .05) farrowing rates than gilts bred with NS/none matings. Similarly, farrowing rates were higher (P less than .05) in NS/AI than in NS/NS gilts. Numbers of pigs born alive were greater (P less than .05) in NS/NS, NS/AI, and AI/AI than in NS/none gilts. In sows, a treatment x time interaction (P less than .01) was present for farrowing rate. In the AI/AI treatment, farrowing rate increased (P less than .01) from 70.0% (wk 1 through 3) to 88.5% (wk 4 through 10). Farrowing rates were 87.3, 93.2, and 76.0% in the NS/NS, NS/AI, and NS/none groups, respectively, and did not change (P = .72) over time. Sows bred via NS/NS and NS/AI had larger litters (P less than .05) than NS/none sows. In the present study, if four or more sows and gilts were bred, then AI required less (P less than .05) time per animal than NS. Furthermore, gilts required more (P less than .05) time for breeding than sows. Results from this study demonstrate that gilts and sows responded differently to combinations of NS and AI in terms of reproductive performance. In addition, differences in labor requirements per sow or gilt between NS and AI matings were dependent on parity and daily breeding demands.
Dental rehabilitation after surgery for oral cancer

Purpose of reviewThis article reviews the recent literature relating to dental rehabilitation of the oral cancer patient. The impact of loss of teeth on the well being of the oral cancer patient, the process of dental rehabilitation and the latest outcome studies are discussed. Recent findingsFor patients treated for oral cancer major concerns may include their ability to masticate, speak and swallow and if these issues are not addressed this may lead to psychological difficulties. The loss of teeth is a determinant of patient health-related quality of life, with a reduced self-perceived oral health status in association with greater numbers of missing teeth. There is, therefore, a patient need and demand for dental rehabilitation which aims to restore orofacial form and function and general well being. Dental rehabilitation begins at time of diagnosis and a multidisciplinary approach is critical for best treatment outcomes. Implant-based dental rehabilitation is an effective treatment modality but should be used judiciously. The beneficial effects of dental rehabilitation may be veiled by the side effects of cancer and concurrent comorbidities. SummaryThe introduction of three-dimensional planning, guided implant surgery and manufacturing tools has facilitated the treatment of head and neck cancer patients and challenges long-held dogma of treatment.
Representations of Multiplier Algebras in Spaces of Completely Bounded Maps

If G is a locally compact group, then the measure algebra M(G) and the completely bounded multipliers of the Fourier algebra McbA(G) can be seen to be dual objects to one another in a sense which generalises Pontryagin duality for abelian groups. We explore this duality in terms of representations of these algebras in spaces of completely bounded maps. This article is intended to give a tour of the growing body of work on representing multiplier algebras in spaces of maps on the C*-algebra B(H), where H is a Hilbert space. The ideas here begin in the 1980s with the work of Størmer [37], on representations of measure algebras of abelian groups; work of Ghahramani [12], on a representation of group algebras for general groups; and unpublished work of Haagerup [13], on a representation of completely bounded multipliers of the Fourier algebra of a general locally compact group. Størmer’s and Ghahramani’s results have been expanded upon and improved in the work of Neufang [22], Neufang, Ruan and Spronk [23] and Smith and Spronk [33]. The results of Haagerup were rediscovered by Spronk [34, 35]. These ideas are currently being reinterpreted by Neufang, Ruan and Spronk, and may yield results on multipliers of “quantum groups”. Date: March 2, 2005. 2000 Mathematics Subject Classification. Primary 46L07, 22D20, 43A20; Secondary 22D10,22D25.
Generating functions involving arbitrary products

We show that the use of operational methods and of multi-index Bessel functions allow the derivation of generating functions, involving the product of an arbitrary number of Laguerre polynomials. ∗2000 Mathematics Subject Classification. 33C45, 44A45. †E-mail:dattoli@frascati.enea. it ‡E-mail:Paoloemilio.Ricci@uniroma1.it §E-mail:ikakhom@mail.ru ¶E-mail:Mauro.Migliorati@uniroma1.it 270 G. Dattoli, P. E. Ricci, I. Khomasuridze, and M. Migliorati
Seasonal Occurrence of Gastrointestinal Parasites in Sheep of Kashmir Division

The study was carried out through the period from April 2010 to April 2012 in both organised and unorganised sector of Kashmir valley. The aim of the study was to compare seasonal prevalence of Helminthes of gastrointestinal tract in Sheep. A total of 5836 feacal samples were randomly collected from organised and unorganised sectors of sheep, revealed overall prevalence of 51.21%. The most common prevalent nematodes were Strongyle group of worms. Among cestodes, Moneizia and Avitellina were reported. Among trematodes, Fasciola, Dicrocoelium, Amphistomes and, Paramphistomum were most prevalent. The highest prevalence of helminth parasites was recorded during spring season (60.34%) and lowest in winter (42.86%). The study indicates the prevalence of gastrointestinal helminthic infections varies in different seasons
A Cross-sectional Study of the Association Between Chronic Hepatitis C Virus Infection and Subclinical Coronary Atherosclerosis Among Participants in the Multicenter AIDS Cohort Study.

BACKGROUND Hepatitis C virus (HCV) infection may increase the risk of cardiovascular disease (CVD). We evaluated the association of chronic HCV infection and coronary atherosclerosis among participants in the Multicenter AIDS Cohort Study. METHODS We assessed 994 men with or without human immunodeficiency virus (HIV) infection (87 of whom had chronic HCV infection) for coronary plaque, using noncontrast coronary computed tomography (CT); 755 also underwent CT angiography. We then evaluated the associations of chronic HCV infection and HIV infection with measures of plaque prevalence, extent, and stenosis. RESULTS After adjustment for demographic characteristics, HIV serostatus, behaviors, and CVD risk factors, chronic HCV infection was significantly associated with a higher prevalence of coronary artery calcium (prevalence ratio, 1.29; 95% confidence interval [CI], 1.02-1.63), any plaque (prevalence ratio, 1.26; 95% CI, 1.09-1.45), and noncalcified plaque (prevalence ratio, 1.42; 95% CI, 1.16-1.75). Chronic HCV infection and HIV infection were independently associated with the prevalence of any plaque and of noncalcified plaque, but there was no evidence of a synergistic effect due to HIV/HCV coinfection. The prevalences of coronary artery calcium, any plaque, noncalcified plaque, a mixture of noncalcified and calcified plaque, and calcified plaque were significantly higher among men with an HCV RNA load of ≥2 × 10(6) IU/mL, compared with findings among men without chronic HCV infection. CONCLUSIONS Chronic HCV infection is associated with subclinical CVD, suggesting that vigilant assessments of cardiovascular risk are warranted for HCV-infected individuals. Future research should determine whether HCV infection duration or HCV treatment influence coronary plaque development.
The relative contribution of fast and slow sinking particles to ocean carbon export

Particulate organic carbon (POC) generated by primary production and exported to depth, is an important pathway for carbon transfer to the abyss, where it is stored over climatically significant timescales. These processes constitute the biological carbon pump. A spectrum of particulate sinking velocities exists throughout the water column, however numerical models often simplify this spectrum into suspended, fast and slow sinking particles. Observational studies suggest the spectrum of sinking speeds in the ocean is strongly bimodal with >85% POC flux contained within two pools with sinking speeds of <10 m day−1 and >350 m day−1. We deployed a Marine Snow Catcher (MSC) to estimate the magnitudes of the suspended, fast and slow sinking pools and their fluxes at the Porcupine Abyssal Plain site (48°N, 16.5°W) in summer 2009. The POC concentrations and fluxes determined were 0.2 μg C L−1 and 54 mg C m−2 day−1 for fast sinking particles, 5 μg C L−1 and 92 mg C m−2 day−1 for slow sinking particles and 97 μg C L−1 for suspended particles. Our flux estimates were comparable with radiochemical tracer methods and neutrally buoyant sediment traps. Our observations imply: (1) biomineralising protists, on occasion, act as nucleation points for aggregate formation and accelerate particle sinking; (2) fast sinking particles alone were sufficient to explain the abyssal POC flux; and (3) there is no evidence for ballasting of the slow sinking flux and the slow sinking particles were probably entirely remineralised in the twilight zone.
Clinical Assessment of Sarcopenia and Changes in Body Composition During Neoadjuvant Chemotherapy for Esophageal Cancer.

AIM The aim of this study was to assess changes in body composition during neoadjuvant chemotherapy (NAC) and investigate whether chemotherapy-related toxicities affect body composition in patients with esophageal cancer. PATIENTS AND METHODS In ninety-four patients who underwent NAC for esophageal cancer, body composition was assessed before and after NAC. Associations between the incidence of toxicities and change in body composition during NAC were investigated. RESULTS Forty-four (46.8%) and 50 (53.2%) out of 94 patients were defined as having sarcopenia before and after NAC, respectively. There was no significant difference in the incidence of any toxicity pre-treatment between patients with sarcopenia and those without sarcopenia. No significant reduction in skeletal muscle mass or fat mass was observed in the patients during NAC (p=0.501 and p=0.072). However, patients who experienced grade 4 neutropenia or febrile neutropenia during NAC showed a significantly larger decrease in change of skeletal muscle mass compared to patients who did not experience those toxicities (p=0.013 and 0.036, respectively). CONCLUSION The incidence of serious adverse events such as febrile neutropenia and grade 4 neutropenia is associated with a significant reduction of skeletal muscle mass during NAC. We should make an effort to reduce the incidence of adverse events in order to maintain an appropriate body composition during NAC.
Remote ischemic preconditioning does not increase circulating or effector organ concentrations of proopiomelanocortin derivates

Abstract Objectives. The aim of the present study was to compare changes in circulating levels of proopiomelanocortin (POMC) derivates and lactate after remote ischemic preconditioning (IPC) and physical exercise. Introduction. Remote IPC (rIPC) is cardioprotective following acute myocardial infarction and major cardiac surgery. A blood-borne, transferable factor, released following not only rIPC but also vigorous exercise, mediates protection that is abolished by naloxone suggesting involvement of an opioid-receptor-dependent pathway. Design. Eight healthy volunteers underwent rIPC by four cycles of 5-min inflation of a pneumatic tourniquet to 200 mmHg interrupted by 5 min of deflation. Subsequently, circulating plasma levels of POMC derivates, cortisol, and lactate were measured. After 3 days, the volunteers completed a vigorous exercise program, after which the same compounds were measured. Results. While rIPC was not associated with any significant increase in circulating POMC derivates or lactate, exercise induced significant elevation of both compared with baseline. Conclusions. We were not able to demonstrate a detectable increase in circulating POMC derivates by a standard rIPC stimulus, suggesting that rIPC effect is not mediated by local or detectable central release of these derivates.
HIV- and AIDS-Related Stigma: Psychosocial Aspects in a Representative Spanish Sample

Abstract This study evaluates the prevalence of HIV stigma in Spain and analyzes some variables that may affect its existence. In 2008, we conducted a computer-assisted telephone survey of 1607 people, representative of the Spanish population. Two-wave random stratified sampling was performed, first selecting the home and then the person, depending on the rates of age and sex. About 50% of the population feels discomfort about potential contact with people with HIV and tries to avoid it and 20% advocate discriminatory policies involving physical or social segregation of people with HIV. The belief that HIV is easily transmitted through social contact (15%) and blaming people with HIV for their disease (19.3%) are associated with stigmatization. Degree of proximity to people with HIV, political ideology, educational level, and age are also associated with the degree of stigmatization. According to these results, we suggest that, in order to reduce stigma, we need to modify the erroneous beliefs about the transmission pathways, decrease attributions of blame to people with HIV, and increase contact with them. These interventions should particularly target older people, people with a low educational level, and people with a more conservative political ideology.
Changes in cerebral activity pattern due to subthalamic nucleus or internal pallidum stimulation in Parkinson's disease

High‐frequency electrical stimulation of the internal pallidum (GPi) or the subthalamic nucleus (STN) improves clinical symptoms of Parkinson's disease. In 12 parkinsonian patients, 6 with STN and 6 with GPi stimulators, we used H2 15O positron emission tomography to evaluate whether changes in movement performance were accompanied by change in regional cerebral blood flow (rCBF). Patients were scanned both at rest and while performing a free‐choice joystick movement, under conditions of effective and ineffective electrostimulation. During effective STN stimulation, movement‐related increases in rCBF were significantly higher in supplementary motor area, cingulate cortex, and dorsolateral prefrontal cortex (DLPFC) than during ineffective stimulation. No significant change was observed in any of these areas during GPi stimulation. The difference between the effect of STN and GPi stimulation on movement‐related activity was mainly localized to DLPFC. These results confirm the dominant role of nonprimary motor areas in the control of movement in parkinsonian patients and demonstraste the importance of STN input in the control of these areas.
Internalization of D2 dopamine receptors is clathrin‐dependent and select to dendro–axonic appositions in primate prefrontal cortex

Much of our knowledge on trafficking of neurotransmitter receptors derives from heterologous expression systems and neurons in vitro. Understanding these dynamics in vivo for dopamine receptors, and D2 receptors (D2Rs) in particular, presents a foremost challenge as their pharmacological manipulation underlies antipsychotic medications and drug abuse, which may in turn alter response to endogenous dopamine. Here we present the first ultrastructural evidence of clathrin‐mediated endocytosis of D2Rs or any other neurotransmitter receptor in the primate brain. We have captured in situ the insertion of D2Rs in clathrin‐coated membrane pits, resulting in receptor sorting in primary endosomes. Endocytosis was specific to nonsynaptic membranes of distal dendrites, and virtually absent from larger shafts, spines, axons and perikarya expressing D2Rs. The selective association of D2Rs with the clathrin endocytotic pathway of high‐order dendrites identifies a novel substrate for monitoring and adjusting dopaminoception, as well as a potent target for dysregulation, and manipulation, of D2R signalling in mental illness.
REIT Financing Choices: Preparation Matters

Sun, Titman, and Twite (2014) find that risky capital structure characteristics, such as high leverage, a high share of debt due in the near future and a high share of variable-rate debt, significantly reduce the cumulative total returns of US REITs over the 2007-2009 financial crisis. In this paper we show that preparing ahead of the crisis significantly improved the cumulative return over the crisis period even after controlling for the levels of the relevant capital structure characteristics at the start of the crisis. Specifically, we document that REITs which reduced leverage and increased maturity prior to the crisis fared better during the crisis. For instance, a one standard deviation reduction in leverage generated a five percent higher cumulative return during the crisis. We further find that US REITs with the highest capital structure risk (high leverage and short maturities) were more likely to prepare for the crisis ahead by reducing leverage and extending maturity. This effect is especially large for REITs with strong governance. We also document that none of our findings hold for European REITs. This suggests that since European firms did not experience or observe the levels of market excess that occurred in the US before the crisis, whether or not they prepared for the crisis had no impact on their returns during the crisis.