Miracle-dz/UniFAR-FTUs huggingface dataset:
Kabuki syndrome: report of six Thai children and further phenotypic and genetic delineation.

We describe six Thai children with the Kabuki syndrome. Monozygotic twin boys discordant for the syndrome were encountered in a family. The affected twin had all five cardinal features of the syndrome, whereas the unaffected twin had none of them. The presence of monozygotic twins discordant for the syndrome argues against a single gene origin of the disorder, but by no means excludes it. In another family, a mother had a facial appearance similar to her affected son. Lower lip pits with or without symmetrical lower lip nodules were present in three of the six children, and pilonidal sinus was seen in five children. These clinical manifestations were much more common than previously described. Other inconsistent findings included early eruption of the lower central incisors, a skin defect of the head, and transient hyperthyrotropinemia in infancy.
Acute L-glutamine ingestion does not improve maximal effort exercise.

BACKGROUND L-glutamine (GLN) may have an ergogenic effect during exercise considering its base generating potential. We attempted to determine whether GLN ingestion influences acid-base balance and improves high intensity exercise performance. METHOD Ten trained males performed five exercise bouts on a cycle ergometer at 100% of VO2 peak. The first four bouts were 60 sec in duration, while the fifth bout was continued to fatigue. Each bout was separated by 60 sec of recovery. The exercise bouts were initiated 90 min after ingesting 0.03 g.kg body mass-1 of either GLN or placebo (PLC). Venous blood samples were collected pre-ingestion (PRE-IN), pre-exercise (PRE-EX), and following bouts four (B4) and five (B5) and analyzed for pH, bicarbonate concentration (HCO3), and lactate concentration (La-). Time to fatigue for B5 was used as a performance measure. RESULTS pH, [HCO3], and [La-] were not significantly different (p > 0.05) between conditions for PRE-IN, PRE-EX, B4, and B5. Time to fatigue was not significantly different between conditions and averaged 263.4 +/- 24.5 sec and 263.2 +/- 19.4 sec for the GLN and PLC trials, respectively. CONCLUSIONS These data indicate that acute ingestion of L-glutamine does not enhance either buffering potential or high intensity exercise performance in trained males.
Assessing nutrient adequacy from the crop contents of free-ranging indigenous chickens in rural villages of the Venda region of South Africa

The aim of the study was to evaluate the nutritional status of scavenging chickens by assessing the composition of their crop contents. The study was conducted on 288 free-ranging indigenous chickens from six adjacent rural villages in Venda region of South Africa over three seasons (autumn, winter and spring). The chickens consumed grains, kitchen waste, seeds from the environment, plant materials, worms and insects, and some undistinguishable materials. Household waste accounted for 78.6%, 91.1% and 75.8% and materials of animal origin, including insects and worms, accounted for 7.4%, 10.4% and 16% of the crop content in autumn, winter and spring, respectively. Grains and kitchen waste consumption and macro- and micro-nutrient concentrations varied with season. The crude protein (CP) level of the crop contents of adult chickens in all seasons and the calcium and phosphorus levels in winter corresponded with the requirements of poultry for maintenance and growth, but not egg production. Supplementation of CP to young birds in all seasons and calcium and phosphorus in autumn and spring might be necessary to improve their growth. Concentrations of copper, manganese, zinc and cobalt were above the requirements of poultry, but below their maximum tolerance levels (MTL). Iron concentrations ranged from 2907 mg/kg DM to 6424 mg/kg DM, which are well above MTL, suggesting potential detrimental effects on the birds if the iron in the crop contents is bioavailable. Aluminium concentrations ranged from 2256 mg/kg DM to 4192 mg/kg DM, though aluminium is considered non-toxic. It was concluded that the birds would not suffer from micro-mineral deficiencies, and that a risk of toxicity would depend on the bioavailability of the consumed element.
Single nucleotide polymorphism array profiling identifies distinct chromosomal aberration patterns across colorectal adenomas and carcinomas

The progression of benign colorectal adenomas into cancer is associated with the accumulation of chromosomal aberrations. Even though patterns and frequencies of chromosomal aberrations have been well established in colorectal carcinomas, corresponding patterns of aberrations in adenomas are less well documented. The aim of this study was to profile chromosomal aberrations across colorectal adenomas and carcinomas to provide a better insight into key changes during tumor initiation and progression. Single nucleotide polymorphism array analysis was performed on 216 colorectal tumor/normal matched pairs, comprising 60 adenomas and 156 carcinomas. While many chromosomal aberrations were specific to carcinomas, those with the highest frequency in carcinomas (amplification of chromosome 7, 13q, and 20q; deletion of 17p and chromosome 18; LOH of 1p, chromosome 4, 5q, 8p, 17p, chromosome 18, and 20p) were also identified in adenomas. Hierarchical clustering using chromosomal aberrations revealed three distinct subtypes. Interestingly, these subtypes were only partially dependent on tumor staging. A cluster of colorectal cancer patients with frequent chromosomal deletions had the least favorable prognosis, and a number of adenomas (n = 9) were also present in the cluster suggesting that, at least in some tumors, the chromosomal aberration pattern is determined at a very early stage of tumor formation. Finally, analysis of LOH events revealed that copy‐neutral/gain LOH (CN/G‐LOH) is frequent (>10%) in carcinomas at 5q, 11q, 15q, 17p, chromosome 18, 20p, and 22q. Deletion of the corresponding region is sometimes present in adenomas, suggesting that LOH at these loci may play an important role in tumor initiation. © 2015 Wiley Periodicals, Inc.
Who is not drinking less in Sweden? An analysis of the decline in consumption for the period 2004-2011.

AIMS This study aimed to analyse if changes in drinking in Sweden have been similar in different population subgroups between 2004 and 2011, a period when per capita consumption declined significantly. METHOD The analysis starts out from monthly alcohol survey data including 1500 telephone interviews every month. The population is divided into 20 equally large consumption groups separately for men and women and two broad age groups. Both absolute and relative changes in drinking are studied. RESULTS Most findings confirmed a collectivity of change in drinking: a decline was found at all consumption levels overall, among men and women, and among those under 50 years of age. The decline was smaller in groups with the highest consumption, and among those over 50 years consumption rather increased among the heaviest drinkers. CONCLUSION Support was obtained for the conception of a social component in recent consumption changes in Sweden. This finding has an important policy message in line with the total consumption model, namely that measures that reduce per capita consumption are likely to imply fewer heavy drinkers. Some exceptions from the collectivity theory that deserves attention in future studies were also noted, e.g. the development among heavier drinkers above 50 years of age.
Fasting and postprandial cerebrospinal fluid glucose concentrations in healthy women and in an obese binge eater.

OBJECTIVE We hypothesized that abnormal entry of glucose into the central nervous system (CNS) might exist in some chronic binge eaters of carbohydrates, as either a cause or consequence of binge eating. The purpose of this study was thus to determine fasting and postprandial glucose concentrations in the cerebrospinal fluid (CSF) of healthy women, and to obtain similar data in an obese, irritable woman with chronic binge eating of postpartum onset. METHOD CSF was sampled continuously at 0.1 ml/min from 1100 hr to 1700 hr from the binge eating patient, who consumed 5,000 to 10,000 calories per day (preferentially binging on refined carbohydrates), and 4 healthy women via an indwelling, flexible spinal canal catheter. CSF aliquots were obtained at 10-min intervals for measurement of glucose concentrations. Simultaneously, blood was withdrawn at 30-min intervals to obtain serum for glucose assay. A glucose-rich mixed liquid meal was consumed by participants at 1300 hr. RESULTS In striking contrast to the normal women, our bulimic patient showed no postprandial rise whatever in CSF glucose concentrations. Fasting CSF glucose concentrations were slightly lower whereas fasting serum glucose levels were normal in the bulimic patient, compared with the normal women. After eating, serum glucose levels increased in all participants, but less so in our patient. DISCUSSION This is the first description of a lack of postprandial elevation in CSF glucose concentration in a patient with a binge eating disorder. Defective transport of glucose across the blood-brain barrier might account for the observed abnormality. While considering other possibilities, we conjecture that our patient's binge eating was an attempt to compensate for impaired postprandial entry of glucose into her CNS.
Effects of open-label atomoxetine on African-American and Caucasian pediatric outpatients with attention-deficit/hyperactivity disorder.

BACKGROUND Data on the management of attention-deficit/hyperactivity disorder (ADHD) in African-American children and adolescents are limited. METHODS This study sought to evaluate the tolerability, safety, and efficacy of atomoxetine hydrochloride in the management of ADHD in African-American children and adolescents by conducting a post hoc subgroup analysis of 2 multicenter, open-label studies. RESULTS Atomoxetine was safe and well tolerated, with >or=3.0% of African-Americans and Caucasians discontinuing treatment because of adverse events. A significantly higher proportion of Caucasians reported >or=1 treatment-emergent adverse event, including vomiting (7.2% vs 1.2%; P=.037) and fatigue (6.1% vs 0%; P=.012). No serious safety concerns were observed. Changes from baseline in height, weight, and hemodynamic variables were modest and similar in both racial subgroups. African-Americans and Caucasians showed significant improvement from baseline to end point in the mean ADHD Rating Scale-IV-Parent Version: Investigator Administered and Scored (ADHDRS-IV-P:I). Scores decreased by 20.1 in African-Americans and by 19.55 in Caucasians, without significant between-group differences. Patients in both racial groups experienced similar, significant improvements in ADHDRS-IV-P:I inattention and hyperactivity-impulsivity symptoms, Clinical Global Impression-ADHD-Severity, and Conners' Parent Rating Scale-Revised: Short Form. CONCLUSIONS Atomoxetine exhibited similar tolerability, safety, and efficacy profiles in African-Americans and Caucasians with ADHD.
The effect of playing formation on high-intensity running and technical profiles in English FA Premier League soccer matches

Abstract The aim of this study was to examine the effect of playing formation on high-intensity running and technical performance during elite soccer matches. Twenty English FA Premier League games were analysed using a multiple-camera computerized tracking system (n = 153 players). Overall ball possession did not differ (P > 0.05) between 4–4–2, 4–3–3 and 4–5–1 formations (50%, s = 7 vs. 49%, s = 8 vs. 44%, s = 6). No differences were observed in high-intensity running between 4–4–2, 4–3–3 and 4–5–1 formations. Compared with 4–4–2 and 4–3–3 formations, players in a 4–5–1 formation performed less very high-intensity running when their team was in possession (312 m, s = 196 vs. 433 m, s = 261 vs. 410 m, s = 270; P < 0.05) but more when their team was not in possession (547 m, s = 217 vs. 461 m, s = 156 vs. 459 m, s = 169; P < 0.05). Attackers in a 4–3–3 performed ∼30% more (P < 0.05) high-intensity running than attackers in 4–4–2 and 4–5–1 formations. However, the fraction of successful passes was highest in a 4–4–2 (P < 0.05) compared with 4–3–3 and 4–5–1 formations. The results suggest that playing formation does not influence the overall activity profiles of players, except for attackers, but impacts on very high-intensity running activity with and without ball possession and some technical elements of performance.
Ecological Econophysics for Degrowth

This paper outlines a synthesis of ecological economics with econophysics and other complexity approaches to economics. Arguably, the resulting “ecological econophysics” will be scientifically sounder than mainstream economics and much better suited to addressing a major challenge of our times: the development of democratically-based policies to reduce economic throughput to an environmentally sustainable level without triggering economic crises and without excluding part of the world’s population, i.e., to implement degrowth. Degrowth will need major structural changes, which leads us to question whether there are limits to the malleability of the economic system’s architecture. A fundamental limit will be encountered if, as suggested by the physics of complexity, long-lasting complex systems always occur midway between an ordered and a disordered state. There is much evidence that this hypothesis holds and that the current economic system satisfies this condition. However, this does not mean that the problems posed by this system should be unavoidable. Ecological econophysics gives clues to identifying alternative economic systems that would also function between order and chaos, but which would have radically different implications for environmental sustainability and social justice.
Pharmacokinetic-Pharmacodynamic Modeling of Methylxanthine Derivatives in Mice Challenged with High-Dose Lipopolysaccharide

Aims: Pentoxifylline and lisofylline are methylxanthine derivatives that exhibit anti-inflammatory activity both in vitroand in vivo. This study was designed to develop a pharmacokinetic-pharmacodynamic (PK/PD) model to describe the inhibitory effect of these compounds on TNF-α production in mice challenged with bacterial lipopolysaccharide (LPS). Methods: Male CD-1 mice received increasing intravenous doses of either compound simultaneously with high-dose LPS. A 2-compartment model with Michaelis-Menten-type elimination was used to describe the drug concentration versus time data. Serum TNF-α levels were fitted to an indirect response model. Results: Pentoxifylline and lisofylline reduced LPS-induced TNF-α serum concentrations in a dose-dependent manner. PK/PD analysis revealed an almost 2-fold higher estimate of Km for pentoxifylline in comparison to lisofylline. The production and elimination rates of TNF-α were: kin = 2,167 pg/ml · h–1 and kout = 1.65 h–1, respectively. The drug concentration causing 50% of TNF inhibition (IC50) was markedly lower for pentoxifylline (0.47 vs. 1.61 µg/ml). Conclusions:It seems that pentoxifylline is more potent than lisofylline in inhibiting TNF-α production in vivo. The proposed PK/PD model allowed a better understanding of the pharmacological properties of both methylxanthine derivatives and may be helpful in appropriate dosage selection for further studies.
Religious beliefs and breast cancer screening.

BACKGROUND The mechanisms underlying a reported tendency for women who hold strong religious beliefs to seek medical help at more advanced stages of breast cancer are unknown. This study investigates further the effect of religious beliefs with other variables on breast cancer screening and the intended presentation of a self-discovered breast lump. METHODS The study included 682 eastern North Carolina women aged 40 and over who were interviewed in their homes about religious and other beliefs about breast cancer, screening, and intended actions with a self-discovered breast lump. RESULTS Principal components factor analysis results suggested that a majority of women believe that God works through doctors to cure breast cancer. We labeled this dimension "religious intervention with treatment. " A minority believed that medical treatment was unnecessary because only God could cure breast cancer. We labeled this dimension "religious intervention in place of treatment. " The first dimension correlated with self-reported mammography but not clinical breast examination or women's intention to delay presentation of a self-discovered breast lump. The second dimension, significantly more common in African American women who were less educated and older, correlated strongly with the intention to delay presentation of a self-discovered breast lump. CONCLUSIONS Belief in "religious intervention in place of treatment" may help to explain why African American women delay presentation of palpable breast lumps, contributing to advanced-stage cancer diagnosis. We suggest that clinicians and clergy work together within the context of religious beliefs to enhance early detection and survival from breast cancer.
Memristors Empower Spiking Neurons With Stochasticity

Recent theoretical studies have shown that probabilistic spiking can be interpreted as learning and inference in cortical microcircuits. This interpretation creates new opportunities for building neuromorphic systems driven by probabilistic learning algorithms. However, such systems must have two crucial features: 1) the neurons should follow a specific behavioral model, and 2) stochastic spiking should be implemented efficiently for it to be scalable. This paper proposes a memristor-based stochastically spiking neuron that fulfills these requirements. First, the analytical model of the memristor is enhanced so it can capture the behavioral stochasticity consistent with experimentally observed phenomena. The switching behavior of the memristor model is demonstrated to be akin to the firing of the stochastic spike response neuron model, the primary building block for probabilistic algorithms in spiking neural networks. Furthermore, the paper proposes a neural soma circuit that utilizes the intrinsic nondeterminism of memristive switching for efficient spike generation. The simulations and analysis of the behavior of a single stochastic neuron and a winner-take-all network built of such neurons and trained on handwritten digits confirm that the circuit can be used for building probabilistic sampling and pattern adaptation machinery in spiking networks. The findings constitute an important step towards scalable and efficient probabilistic neuromorphic platforms.
Recognizing Powers of Proper Interval, Split, and Chordal Graph

In this paper, we study the complexity of recognizing powers of chordal graphs and its subclasses. We present the first polynomial time algorithm to recognize squares of proper interval graphs and give an outline of an algorithm to recognize kth powers of proper interval graphs for every natural number k. These are the first results of this type for a family of graphs that contains arbitrarily large cliques. On the other hand, we show the NP-completeness of recognizing squares of chordal graphs, recognizing squares of split graphs, and recognizing chordal graphs that are squares of some graph.
Polycystic Ovaries

Polycystic ovarian disease has been recognised for quite a long time, although its presentations have varied from place to place. In a report of cases of polycystic ovaries seen in the University College Hospital, Ibadan, Nigeria, over a six‐year period, it was shown that the syndrome of Stein‐Leventhal identifies only a very small and probably artificial fraction of the much larger number of patients who actually have polycystic ovarian disease. It was further shown that the benefit derived from wedge resection in our cases was marked. Of the cases that were subsequently seen at follow‐up, there was restoration of regular ovulatory menstrual flow in 83.3% and achievement of pregnancy in 33.3%. Hence, the observation that wedge resection is beneficial, and at times curative in polycystic ovarian disease seems to have a sound foundation.
The effect of varying low-dose combinations of norethindrone acetate and ethinyl estradiol (femhrt®) on the frequency and intensity of vasomotor symptoms

ObjectiveTo determine whether there is a significant reduction in frequency and severity of hot flashes in symptomatic postmenopausal women who are administered continuously different dose combinations of norethindrone acetate and ethinyl estradiol. DesignTwo randomized clinical trials (Study 1 and Study 2) were conducted in which study participants recorded in daily diaries the frequency of their hot flashes. Study 2 participants also recorded the number of mild, moderate, or severe hot flashes they experienced. In Study 1, a total of 219 postmenopausal women reporting vasomotor symptoms were placed randomly into groups to receive either a placebo or 1 of 4 treatments (0.2 mg /1 &mgr;g; 0.5 mg/2.5 &mgr;g; 1 mg/5 &mgr;g; or 1 mg/10 &mgr;g norethindrone acetate/ethinyl estradiol). In Study 2, a total of 266 highly symptomatic postmenopausal women were placed randomly to receive either a placebo or 1 of 3 treatment groups [0.5 mg/2.5 &mgr;g; 1 mg/5 &mgr;g; or 1 mg/10 &mgr;g norethindrone acetate (NA)/ethinyl estradiol (EE)]. Total duration of treatment was 16 weeks in Study 1 and 12 weeks in Study 2. Study 1 subjects had to have at least 10 hot flashes during the week before randomization. Study 2 subjects had to have at least 56 moderate to severe hot flashes during the week before randomization. ResultsIn both studies, there was a dose-related decrease in hot flash frequency with the highest dose (1 mg NA/10 &mgr;g EE) group that had the greatest response. Significant differences from placebo (p < 0.05, Dunnett's test) occurred within 4 weeks in Study 1 for hot flash frequency with a percent reduction in frequency ranging from 33% for placebo to 84% for both the 1 mg NA/10 &mgr;g EE and 1 mg NA/5 &mgr;g EE dose groups. Likewise, Study 2 significant reductions in hot flash frequency occurred by Week 2 for 1 mg NA/10 &mgr;g EE, Week 3 for 1 mg NA/5 &mgr;g EE, and Week 5 for 0.5 mg NA/2.5 &mgr;g EE (p < 0.05, Dunnett's test). This dose effect was also apparent with regard to severity. In addition, more subjects had clinically meaningful reductions in hot flash frequency or elimination as the dose combinations increased. ConclusionThere were significant reductions in hot flash frequency and severity with continuous treatment with norethindrone acetate and ethinyl estradiol combinations. The time at which significant reductions were observed, as well as the magnitude of the response, were dose dependent. The opportunity for lower-dose options of a new continuous-combined hormone replacement therapy provides therapeutic flexibility for women who are recently menopausal.
Retrospective voting and party support at elections: credit and blame for government and opposition

ABSTRACT Retrospective voting is arguably one of the most important mechanisms of representative democracy, and whether or not the public holds the government accountable for its policy performance has been extensively studied. In this paper, we test whether retrospective voting extends to parties in the opposition, that is whether and how parties’ past performance evaluations affect their vote, regardless of whether they were in government or in opposition. Taking advantage of a rich set of questions embedded in a representative German national elections panel, we update our knowledge on the retrospective voting mechanism by modeling retrospective voting at the party level. The findings indicate that the incumbent status is not the only criterion for retrospective voting, ultimately suggesting that both government and opposition parties can expect credit and blame for their conduct and this should provide some impetus for responsive performance of all parties.