Miracle-dz/UniFAR-FTUs huggingface dataset:
Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation

Maternal uniparental disomy of chromosome 14 (upd(14)mat) or Temple syndrome is an imprinting disorder associated with a relatively mild phenotype. The absence of specific congenital malformations makes this condition underdiagnosed in clinical practice. A boy with a de novo robertsonian translocation 45,XY,rob(13;14)(q10;q10) is reported; a CGH/SNP array showed a loss of heterozygosity in 14q11.2q13. 1. The final diagnosis of upd(14)mat was made by microsatellite analysis, which showed a combination of heterodisomy and isodisomy for different regions of chromosome 14. Obesity after initial failure to thrive developed, while compulsive eating habits were not present, which was helpful for the clinical differential diagnosis of Prader-Willi syndrome. In addition, the boy presented with many phenotypic features associated with upd(14)mat along with hypoesthesia to pain, previously unreported in this disorder, and bilateral cryptorchidism, also rarely described. These features, as well as other clinical manifestations (i.e., truncal obesity, altered pubertal timing), may suggest a hypothalamic-pituitary involvement. A detailed cytogenetic and molecular characterization of the genomic rearrangement is presented. Early genetic diagnosis permits a specific follow-up of children with upd(14)mat in order to optimize the long-term outcome.
A tensor model of multipath routing based on multiple QoS metrics

Flow model for multipath routing with guaranteed the quality of service (QoS) is proposed. The model is based on the updated version of flow conservation law, which is taking into account the possible packet loss caused by buffer overflow at the network routers. The accounting such losses is related to revise conditions associated with the quality of service. By using tensor approach analytical boundary conditions were obtained. The conditions allow ensuring different parameters of the quality of service (rate, average delay and packet loss probability) at the same time. In addition, proposed model provides minimal value of average end-to-end packet delay where delays along all paths are same. As a result jitter caused by the multipath routing (difference between delays along different paths) is minimized. The developed conditions for QoS ensuring have invariant form which do not depend on the used at the interface. Changing the traffic models and/or packet servicing algorithm is related to a modification of the metric only within the same form of conditions.
Multiple Time-Point 68Ga-PSMA I&T PET/CT for Characterization of Primary Prostate Cancer: Value of Early Dynamic and Delayed Imaging

Purpose The aims of this study were to gain mechanistic insights into prostate cancer biology using dynamic imaging and to evaluate the usefulness of multiple time-point 68Ga–prostate-specific membrane antigen (PSMA) I&T PET/CT for the assessment of primary prostate cancer before prostatectomy. Methods Twenty patients with prostate cancer underwent 68Ga-PSMA I&T PET/CT before prostatectomy. The PET protocol consisted of early dynamic pelvic imaging, followed by static scans at 60 and 180 minutes postinjection (p.i.). SUVs, time-activity curves, quantitative analysis based on a 2-tissue compartment model, Patlak analysis, histopathology, and Gleason grading were compared between prostate cancer and benign prostate gland. Results Primary tumors were identified on both early dynamic and delayed imaging in 95% of patients. Tracer uptake was significantly higher in prostate cancer compared with benign prostate tissue at any time point (P ⩽ 0.0003) and increased over time. Consequently, the tumor-to-nontumor ratio within the prostate gland improved over time (2.8 at 10 minutes vs 17.1 at 180 minutes p.i.). Tracer uptake at both 60 and 180 minutes p.i. was significantly higher in patients with higher Gleason scores (P < 0.01). The influx rate (Ki) was higher in prostate cancer than in reference prostate gland (0.055 [r = 0.998] vs 0.017 [r = 0.996]). Conclusions Primary prostate cancer is readily identified on early dynamic and static delayed 68Ga-PSMA ligand PET images. The tumor-to-nontumor ratio in the prostate gland improves over time, supporting a role of delayed imaging for optimal visualization of prostate cancer.
Development of a Novel Immunoradiometric Assay Exclusively for Biologically Active Whole Parathyroid Hormone 1–84: Implications for Improvement of Accurate Assessment of Parathyroid Function

We developed a novel immunoradiometric assay (IRMA; whole parathyroid hormone [PTH] IRMA) for PTH, which specifically measures biologically active whole PTH(1–84). The assay is based on a solid phase coated with anti‐PTH(39–84) antibody, a tracer of125I‐labeled antibody with a unique specificity to the first N‐terminal amino acid of PTH(1–84), and calibrators of diluted synthetic PTH(1–84). In contrast to the Nichols intact PTH IRMA, this new assay does not detect PTH(7–84) fragments and only detects one immunoreactive peak in chromatographically fractionated patient samples. The assay was shown to have an analytical sensitivity of 1.0 pg/ml with a linear measurement range up to 2300 pg/ml. With this assay, we further identified that the previously described non‐(1–84)PTH fragments are aminoterminally truncated with similar hydrophobicity as PTH(7–84), and these PTH fragments are present not only in patients with secondary hyperparathyroidism (2°‐HPT) of uremia, but also in patients with primary hyperparathyroidism (1°‐HPT) and normal persons. The plasma normal range of the whole PTH(1–84) was 7–36 pg/ml (mean ± SD: 22.7 ± 7.2 pg/ml, n = 135), whereas over 93.9% (155/165) of patients with 1°‐HPT had whole PTH(1–84) values above the normal cut‐off. The percentage of biologically active whole PTH(1–84) (pB%) in the pool of total immunoreactive “intact” PTH is higher in the normal population (median: 67.3%; SD: 15.8%; n = 56) than in uremic patients (median:53.8%; SD: 15.5%; n = 318; p < 0.001), although the whole PTH(1–84) values from uremic patients displayed a more significant heterogeneous distribution when compared with that of 1°‐HPT patients and normals. Moreover, the pB% displayed a nearly Gaussian distribution pattern from 20% to over 90% in patients with either 1°‐HPT or uremia. The specificity of this newly developed whole PTH(1–84) IRMA is the assurance, for the first time, of being able to measure only the biologically active whole PTH(1–84) without cross‐reaction to the high concentrations of the aminoterminally truncated PTH fragments found in both normal subjects and patients. Because of the significant variations of pB% in patients, it is necessary to use the whole PTH assay to determine biologically active PTH levels clinically and, thus, to avoid overestimating the concentration of the true biologically active hormone. This new assay could provide a more meaningful standardization of future PTH measurements with improved accuracy in the clinical assessment of parathyroid function.
Wind‐driven mixing at intermediate depths in an ice‐free Arctic Ocean

Recent seasonal Arctic Ocean sea ice retreat is a major indicator of polar climate change. The Arctic Ocean is generally quiescent with the interior basins characterized by low levels of turbulent mixing at intermediate depths. In contrast, under conditions of reduced sea ice cover, there is evidence of energetic internal waves that have been attributed to increased momentum transfer from the atmosphere to the ocean. New measurements made in the Canada Basin during the unusually ice‐free and stormy summer of 2012 show previously observed enhancement of internal wave energy associated with ice‐free conditions. However, there is no enhancement of mixing at intermediate depths away from significant topography. This implies that contrary to expectations of increased wind‐induced mixing under declining Arctic sea ice cover, the stratification in the central Canada Basin continues to suppress turbulent mixing at intermediate depths and to effectively isolate the large Atlantic and Pacific heat reservoirs from the sea surface.
Lessons from STEP‐BD for the treatment of bipolar depression

STEP-BD AND THE CHALLENGE OF BIPOLAR DEPRESSION FROM 50,000 FEET Major depressive episodes and depressive symptoms burden bipolar patients more than any other mood state. As shown by the Collaborative Depression Study, time spent in episodes of major depression have been estimated to be about 31.9% of weeks for bipolar I (BPI), whereas time spent in manic or hypomanic states is 8.9% of weeks, a ratio of 3.6. Those with bipolar II disorder (BPII) spend about 50.3% of their time depressed and 1.3% hypomanic, a ratio of 38.7. Despite the dominance of depression in bipolar disorder, most drug development has focused on acute mania, and most of this development comes from new indications for antipsychotics developed for schizophrenia. The field has assumed that an antidepressant is an antidepressant and should work for bipolar depression despite a lack of rigorous studies that either prove or disprove their efficacy or effectiveness. Drug development for treatments of bipolar depression has lagged, with only two treatments approved in the last 30 years, the olanzapine–fluoxetine combination and quetiapine. A third treatment, the anticonvulsant lamotrigine, although had initial promise as monotherapy for bipolar depression, subsequently failed to separate from placebo in four additional studies. Lamotrigine was, however, found effective for the prevention of mood episodes and is FDA approved for this indication. With these available treatments, the NIMH STEP-BD (the Systematic Enhancement Project for Bipolar Disorder) assessed a large group of bipolar patients for outcomes under conditions of systematic care (in contrast to naturalistic outcomes) and embedded randomized clinical trials to address questions about the use of antidepressants for bipolar depression. ON THE ISSUE OF GENERALIZABILITY AND THE LIMITS OF REGISTRATION TRIALS
Spontaneous and suggested posthypnotic source amnesia.

Abstract The occurrence of spontaneous and/or suggested posthyp-notic source amnesia was investigated in a sample of 93 introductory psychology students. Ss were randomly assigned to one of two groups, and served as Ss on 2 successive days. The standard induction of the Stanford Hypnotic Susceptibility Scale, Form C (SHSS:C) was utilized. Modified items from SHSS:C as well as a source amnesia item were presented. For one group, source amnesia was suggested on one day and was not suggested on the second day. This order was reversed for the second group. 2 Ss (2%) showed spontaneous source amnesia on one of the two days and a significantly larger number, 8 (9%), showed suggested source amnesia. With a less rigid criterion of scoring source amnesia, the frequency of spontaneous source amnesia increased to 15% and suggested source amnesia to 11%. When the groups were subdivided on the basis of susceptibility scores: (a) there was little effect of source amnesia below a susceptibility score of 4, and (b) both .
Primordial cell pool size and lineage relationships of five human cell types*

Several aspects of normal and neoplastic development can be studied in individuals who have two or more genetically distinct types of cells. Females heterozygous at the X-linked glucose-6phosphate dehydrogenase (G-6-PD) locus are cellular mosaics by virtue of fixed inactivation of one X chromosome in each somatic cell early in embryogenesis (Lyon, 1968). Thus, a given somatic cell in a GdBIGdA heterozygote has either GdB or GdA active (Beutler, Yeh & Fairbanks, 1962; Davidson, Nitowsky & Childs, 1963; DeMars & Nance, 1964). Clones derived from cells with an active GdA allele can be distinguished from those in which GdB is active by subjecting the respective enzymes to starch-gel electrophoresis the A type migrates more rapidly than the B enzyme. Therefore G-6-PD heterozygotes have two cell populations each of which is marked or tagged by the type of enzyme it produces. Since the first report by Linder & Gartler (1965) this system has been used extensively to trace the origin and development of human neoplasms (reviewed in Fialkow, 1972). A tumour with a clonal origin in a GdB/GdA heterozygote should contain only type B or type A enzyme (depending upon whether GdB or GdA was active in the single progenitor cell) ; a tumour with multicellular origin may contain both A and B enzymes. Similarly, the G-6-PD method can also be used to trace normal development. One application is to compare the ratio of A to B enzyme in the same organ from many subjects. Since the enzyme composition reflects the mosaic cell composition, with certain assumptions estimates can then be made of how many cells gave rise to that organ during embryogenesis. If it were derived from a single cell after X inactivation has occurred, only one type of enzyme, A or B, should be found. If there were two progenitor cells, the organs from 114 of heterozygotes should type as A, 112 a,s AB, and 114 as B, and so on. If the number of primordial cells is large, the organ from almost a.11 GdB/GdA females should contain approximately equal amounts of A and B enzyme. Another application study of many different tissues from a single subject provides information about cell lineage relationships. If two tissues are derived from a common progenitor pool they should show correlations in the ratio of the two isoenzymes. For example, Gandini & Gartler (1969) found excellent correlations among the ratios of A to B enzymes in red cells, granulocytes and blood lymphocytes and concluded that these cell lines are derived from a common stem cell pool. In previous reports the mosaic compositions of blood cells have been compared with that of skin in only two patients (Gandini et al. 1968). We have studied five human cell types red cells, granulocytes, blood lymphocytes, lymph nodes, skin a.nd muscle from 42 GdB/GdA heterozygotes.
Predisposing factors and incidence of newly diagnosed atrial fibrillation in an urban African community: insights from the Heart of Soweto Study

Background Little is known about the incidence and clinical characteristics of newly diagnosed atrial fibrillation/flutter (AF) in urban Africans in epidemiological transition. Methods This observational cohort study was carried out in the Chris Hani Baragwanath Hospital in Soweto South Africa. A clinical registry captured detailed clinical data on all de novo cases of AF presenting to the Cardiology Unit during the period 2006–2008. Results Overall, 246 of 5328 cardiac cases (4.6%) presented with AF (estimated 5.6 cases/100 000 population/annum). Mean age was 59±18 years and the majority were of African descent (n=211, 86%) and/or female (n=150, 61%). Men were more than twice as likely to smoke (OR 2.88, 95% CI 1.92 to 4.04) than women, but women were twice as likely to be obese (OR 1.80, 95% CI 1.28 to 2.52) than men. Lone AF occurred in 22 (8.9%) cases, while concurrent valve disease and/or functional valvular abnormality occurred in 107 cases (44%). Overall, 171 cases (70%) presented with uncontrolled AF (ventricular rate >90 beats/min) with no sex-based differences. Common co-morbidities were any form of heart failure (56%) and rheumatic heart disease (21%). Women with AF were more likely to present with hypertensive heart failure (OR 2.37, 95% CI 1.24 to 4.54) but less likely to present with a dilated cardiomyopathy (OR 0.42, 95% CI 0.23 to 0.76) or coronary artery disease (OR 0.38, 95% CI 0.14 to 1.02) than men. Mean overall CHADS2 score (in 195 non-rheumatic cases) was 1.51±0.91 and, despite a similar age profile, women had higher scores than men (1.73±0.94 vs 1.24±0.78; p<0.0001). Conclusions These unique data suggest that urban Africans in Soweto develop AF at a relatively young age. Conventional strategies used to manage and treat AF need to be carefully evaluated in this setting.
What is Happening with the Government Expenditure of Developing Countries - A Panel Data Study

The paper focuses on the recent pattern of government expenditure for developing countries and estimates the determinants which may have influenced government expenditure. Using a panel data set for 111 developing countries from 1984 to 2004, this study finds evidence that political and institutional variables as well as governance variables significantly influence government expenditure. Among other results, the paper finds new evidence of Wagner's law which states that peoples' demand for service and willingness to pay is income-elastic hence the expansion of public economy is influenced by the greater economic influence of a nation Cameron (1978). Corruption is found to be influential in explaining the public expenditure of developing countries. On the contrary, size of the economy and linguistic fractionalization is found to have significant negative association over government expenditure. The study finds that military governments are more conservative in terms of large public expenditure other than spending on defence equipments.
Male infertility and variation in CAG repeat length in the androgen receptor gene: a meta-analysis.

CONTEXT Many studies have investigated the association between male infertility and trinucleotide repeat polymorphisms in the androgen receptor (AR) gene, but no comprehensive meta-analysis of all published studies has been conducted. OBJECTIVE Our goals were to summarize published data on associations between AR CAG and GGC repeat lengths and male infertility and investigate sources of variation between study results. DATA SOURCES We searched for reports published before October 2006 using Medline, PubMed, and Web of Science. STUDY SELECTION All selected studies included the following: a case group with infertility as measured by semen parameters, a control group of known or presumed fertile men, and measurement of CAG and/or GGC repeat lengths among cases and controls. Thirty-nine reports were selected based on these criteria, and 33 were ultimately included in the meta-analysis. DATA EXTRACTION One investigator extracted data on sample size, mean and sd of trinucleotide repeat length, and study characteristics. DATA SYNTHESIS Estimates of the standardized mean difference (95% confidence interval) were 0.19 (0.09-0.29) for the 33 studies and 0.31 (0.14-0.47) for a subset of 13 studies that used more stringent case and control selection criteria. Thus, in both groups, cases had statistically significantly longer CAG repeat length than controls. Publication date appeared to be a significant source of variation between studies. CONCLUSIONS This meta-analysis provides support for an association between increased androgen receptor CAG length and idiopathic male infertility, suggesting that even subtle disruptions in the androgen axis may compromise male fertility.
Current–Voltage Characteristics of Graphane p-n Junctions

In contrast to graphene, which is a gapless semiconductor, graphane, the hydrogenated graphene, is a semiconductor with an energy gap. Together with the 2-D geometry, unique transport features of graphene, and the possibility of doping graphane, p and n regions can be defined so that 2-D p-n junctions become feasible with small reverse currents. This paper introduces a basic analysis to obtain the current-voltage characteristics of such a 2-D p-n junction based on graphane. As we show, within the approximation of Shockley's law of junctions, an ideal I-V characteristic for this p-n junction is to be expected.
The development of urban community health centres for strengthening primary care in China: a systematic literature review.

INTRODUCTION This review outlines the development of China's primary care system, with implications for improving equitable health care. SOURCES OF DATA Government documents, official statistics, and recent literature identified through systematic searches performed on NCBI PubMed. AREAS OF AGREEMENT Community health centres (CHCs) are being developed as the major primary care provider in urban China, with laudable achievements. The road towards a strong primary care-led system is promising but challenging. AREAS OF CONTROVERSY The effectiveness in improving equitable care through the expansion of primary care workforce and redesign of the social medical insurance system warrants further exploration. GROWING POINTS Healthcare disparities exist in the health system wherein universal health coverage and gatekeepers have not yet been established. AREAS TIMELY FOR DEVELOPING RESEARCH Future prospective studies should aim to provide solutions for strengthening the leading role of CHCs in providing equitable care in response to population ageing and multimorbidity challenges.
Risk management of banking industry in Taiwan

This study focuses upon the factors affecting the risk-taking behaviour of Taiwan's banking industry during the period from 1994 through 2003, and also analyses separately the differences of new-private and state-owned banks, pre- and post-New Basel Capital Accord. It further compares the differences of risk-taking behaviour in Taiwan's banking industry. The results show that the more liquidity, the higher the total risk as well as the market risk. The higher the number of rational investors, franchise value and capital adequacy ratio, the less default risk for Taiwan's banking industry. Furthermore, the larger the number of rational investors and higher the franchise value, the less market risk and insolvency risk. However, the larger the bank size, the more default risk, market risk and insolvency risk in Taiwan's banking industry. By implementing the New Basel Capital Accord, for state-owned and new-private banks, the results are consistent. This study infers that the banks in Taiwan are definitely affected by rational investors, franchise value, capital adequacy ratio, size and liquidity.
Achilles tendon loading patterns during barefoot walking and slow running on a treadmill: An ultrasonic propagation study

Measurement of tendon loading patterns during gait is important for understanding the pathogenesis of tendon “overuse” injury. Given that the speed of propagation of ultrasound in tendon is proportional to the applied load, this study used a noninvasive ultrasonic transmission technique to measure axial ultrasonic velocity in the right Achilles tendon of 27 healthy adults (11 females and 16 males; age, 26 ± 9 years; height, 1.73 ± 0.07 m; weight, 70.6 ± 21.2 kg), walking at self‐selected speed (1.1 ± 0.1 m/s), and running at fixed slow speed (2 m/s) on a treadmill. Synchronous measures of ankle kinematics, spatiotemporal gait parameters, and vertical ground reaction forces were simultaneously measured. Slow running was associated with significantly higher cadence, shorter step length, but greater range of ankle movement, higher magnitude and rate of vertical ground reaction force, and higher ultrasonic velocity in the tendon than walking (P < 0.05). Ultrasonic velocity in the Achilles tendon was highly reproducible during walking and slow running (mean within‐subject coefficient of variation < 2%). Ultrasonic maxima (P1, P2) and minima (M1, M2) were significantly higher and occurred earlier in the gait cycle (P1, M1, and M2) during running than walking (P < 0.05). Slow running was associated with higher and earlier peaks in loading of the Achilles tendon than walking.