Miracle-dz/UniFAR-FTUs huggingface dataset:
REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho‐functional dysfunction

Hereditary spastic paraplegias (HSP) constitute a heterogeneous group of neurodegenerative disorders characterized at least by slowly progressive spasticity of the lower limbs. Mutations in REEP1 were recently associated with a pure dominant HSP, SPG31. We sequenced all exons of REEP1 and searched for rearrangements by multiplex ligation‐dependent probe amplification (MLPA) in a large panel of 175 unrelated HSP index patients from kindreds with dominant inheritance (AD‐HSP), with either pure (n = 102) or complicated (n = 73) forms of the disease, after exclusion of other known HSP genes. We identified 12 different heterozygous mutations, including two exon deletions, associated with either a pure or a complex phenotype. The overall mutation rate in our clinically heterogeneous sample was 4.5% in French families with AD‐HSP. The phenotype was restricted to pyramidal signs in the lower limbs in most patients but nine had a complex phenotype associating axonal peripheral neuropathy (= 5/11 patients) including a Silver‐like syndrome in one patient, and less frequently cerebellar ataxia, tremor, dementia. Interestingly, we evidenced abnormal mitochondrial network organization in fibroblasts of one patient in addition to defective mitochondrial energy production in both fibroblasts and muscle, but whether these anomalies are directly or indirectly related to the mutations remains uncertain. Hum Mutat 32:1118–1127, 2011. ©2011 Wiley‐Liss, Inc.
Age- and Gender-Specific Normative Data of Grip and Pinch Strength in a Healthy Adult Swiss Population

Assessment of hand strength is used in a wide range of clinical settings especially during treatment of diseases affecting the function of the hand. This investigation aimed to determine age- and gender-specific reference values for grip and pinch strength in a normal Swiss population with special regard to old and very old subjects as well as to different levels of occupational demand. Hand strength data were collected using a Jamar dynamometer and a pinch gauge with standard testing position, protocol and instructions. Analysis of the data from 1023 tested subjects between 18 and 96 years revealed a curvilinear relationship of grip and pinch strength to age, a correlation to height, weight and significant differences between occupational groups. Hand strength values differed significantly from those of other populations, confirming the thesis that applying normative data internationally is questionable. Age- and gender-specific reference values for grip and pinch strength are presented.
Multiple Solutions and Plateau Phenomenon in Measurement-Based Load Model Development: Issues and Suggestions

In the measurement-based approach, given a load model structure, its parameter values are derived using actual measurements. The issue of multiple local optimal solutions may arise in parameter estimation when the parameter estimation task is formulated as a nonlinear least squares problem. In this paper, the multiple local optimal solutions issue and a plateau phenomenon in developing load models are addressed in detail and linked to the local identifiability problem. Examples of multiple local optimal solutions in estimating parameter values of several static, dynamic and composite load models are demonstrated. In order to address the local identifiability at an obtained local optimal solution, output sensitivity and correlation between parameters are analyzed. Finally, several suggestions are proposed to resolve these issues.
Yield analysis of optical MEMS assembly Process using a Monte Carlo Simulation technique

We developed a statistical Monte Carlo technique for the performance estimation of optical microelectromechanical systems (MEMS) components taking into account the randomness nature of its assembly. The developed technique is applied on the 2/spl times/2 moving mirror optical MEMS switch as a typical example to study its performance under realistic passive-alignment conditions. The obtained results enable us to evaluate the assembly process capability and to analyze the performance sensitivity to different fabrication parameters. This enables us to establish a design for manufacturability technique for the optical MEMS components.
Noninterference and the composability of security properties

The problem of composability of multilevel security properties, particularly the noninterference property and some of its generalizations, is discussed. Examples are used to show that some of these security properties do not compose; it is possible to connect two systems, both of which are judged to be secure, so that the composite system is not secure. A property called restrictiveness is introduced that is generally composable, so that two restrictive systems connected legally result in a new restrictive composite system. A novel feature in the brief discussion of restrictiveness is a state-machine version of the property. <<ETX>>
Predictors of Survival 1 Hour After Implantation of an Intra‐aortic Balloon Pump in Cardiac Surgery

From July 1996 to March 2000, 391 patients with intraoperative cardiac lowoutput syndrome who underwent surgery with heart‐lung bypass and had an intre‐aortic balloon pump (IABP) Implanted were analyzed in a prospective study. Of these 391 patients, 153 (39%) were operated on in an emergency situation, and 238 (61%) patients had elective surgeries. The perioperative mortality was 34% (133 patients). Clinical parameters were analyzed 1 hour after IABP support began. Statistical multivariate analysis showed that patients with an adrenaline requirement higher than 0.5 μg/kg/min, a left mrial pressure higher then 15 mmHg, output of less than 100 mL/hour, and mixed venous saturation (SvO2) of less then 60% had poor outcomes. Using this data, we developed an IABP score to predict survival early after IABP implantation in cardiac surgery. We conclude that the success or failure of perioperative IABP support can be predicted early after implantation of the balloon pump. In patients with low‐output syndrome despite IABP support, implantation of a vantricular assist system should be considered.
Limbic encephalitis with mGluR5 antibodies and immunotherapy-responsive prosopagnosia

In 1982, Dr. Ian Carr described personality changes and memory loss in his 15-year-old daughter, who had limbic encephalitis and Hodgkin lymphoma (HL). 1 He assumed “a circulating neurotransmitter-like molecule produced by the neoplasm” causing the brain disease, and noted that it “may be reversible and can be remembered as the Ophelia syndrome. ” Almost 30 years later, Lancaster et al.2 identified antibodies against the metabotropic glutamate receptor 5 (mGluR5) as Carr's neurotransmitter-like molecule in 2 patients with limbic encephalitis and HL. Encephalitis was reversible in both patients receiving tumor treatment. The clinical spectrum is largely unknown and the role of immunotherapy is unclear.
Exploration of Technologies for Autonomic Dependable Service Platforms

A city is smart if it can provide ambient services for citizens and especially for professionals who have to tackle emergency situations, including small and wide scale accidents and incidents. These ambient services embody intelligence of autonomic systems based on heterogeneous execution platforms enhanced with services that provide mechanisms for self-adaptation of dependable applications. This paper explores enabling technologies of autonomic dependable service platforms from three viewpoints: i) architectural options, ii) ontology models for services, context and dependability, and iii) modeling methods and practices for achieving high quality service platforms and intelligent applications. The main findings are summarized as a set of research items that need to be carried out for achieving an autonomic dependable service platform.
Global Overview of the Transnational Alliance for Regenerative Therapies in Cardiovascular Syndromes (TACTICS) Recommendations: A Comprehensive Series of Challenges and Priorities of Cardiovascular Regenerative Medicine.

Cardiovascular regenerative medicine (CRM) has been defined as an innovative research field that includes all diagnostic and therapeutic strategies aimed at restoring cardiovascular health by enhancing the innate regenerative response of cardiac and vascular tissues.1 The TACTICS (Transnational Alliance for Regenerative Therapies in Cardiovascular Syndromes) was created in 2015 with the vision of advancing CRM through synergy of basic discoveries and translational clinical efforts in the fight against cardiovascular failure and has grown to include >100 research groups worldwide.2 This unprecedented initiative stated as specific missions the redefinition of CRM and advanced therapy regenerative products, the establishment of discovery and development priorities for the next decade, and the attainment and dissemination of a consensual strategy to reinforce the field increasing its credibility. The first milestone of TACTICS has been achieved with the publication of a Global Consensus Document.1 However, given the amplitude and relevance of its different chapters, a more detailed description of all of them has been deemed necessary, following the same scheme of the Global Consensus Document and, therefore, discussing the main topics and priorities of the CRM field. This is the final aim of this Cardiovascular Regenerative and Reparative Medicine Circulation Research review series. In this first chapter, the following ones are presented and summarized in the form of and index of consecutive articles, which will cover biological fundamentals, preclinical models, and all clinical research-related issues. These articles will be regularly and subsequently published in this journal, on behalf of the TACTICS Consortium (Figure). Figure. Schematic representation of all articles included in this Review series . TACTICS indicates Transnational Alliance for Regenerative Therapies in Cardiovascular Syndromes. The hypothesis of CRM being able to revolutionize cardiovascular clinical practice has been based on the mainly positive and overall consistent results of preclinical research. However, the lack …
Encodes an HMG Box Protein Required for the Specification of a Mesoderm Precursor in Early C . elegans Embryos

In C. elegans embryogenesis, the MS blastomere produces predominantly mesodermal cell types, while its sister E generates only endodermal tissue. We show that a maternal gene, pop-l, is essential for the specification of MS fate and that a mutation in pop-l results in MS adopting an E fate. Previous studies have shown that the maternal gene skn-7 is required for both MS and E development and that skn-7 encodes a transcription factor. We show here that the pop-l gene encodes a protein with an HMG box similar to the HMG boxes in thevertebratelymphoid-specifictranscriptional regulators TCF-1 and LEF-1. We propose that POP-l and SKN-1 function together in the early embryo to allow MS-specific differentiation.
Expression of CD44v6 has no prognostic value in patients with colorectal cancer.

BACKGROUND AND AIMS In colorectal cancer patients' mortality is largely influenced by spreading of tumour cells from the primary tumour site and subsequent metastasis formation. CD44 is an adhesion molecule and represents a highly variable family of isoforms. The isoform CD44v6 has been associated with metastatic spread and poor prognosis in animal models and several human cancers. Results of immunohistological studies in primary colorectal cancer are mostly retrospective and contradictory. The aim of our prospective study was to assess the controversial role of CD44v6 as a prognostic factor in colorectal cancer. METHODS In 93 patients we analysed tumour CD44v6 expression in prospectively sampled stage I-IV colorectal adenocarcinomas using RT-PCR and Southern blotting. The prognostic value of the CD44v6 expression was assessed using univariate and multivariate analysis. RESULTS CD44v6 expression was found in 47 % of the cases. CD44v6 expression failed to show any association with the clinical or histological variables examined. CD44v6 expression did not correlate with survival in long-term follow-up. The most important prognostic factor in this cohort was tumour stage. CONCLUSIONS Changes in CD446 expression level do not predict tumour spread or patient survival in colorectal cancer.
Rapid communication: early potency outcomes with cautery-free neurovascular bundle preservation with robotic laparoscopic radical prostatectomy.

PURPOSE To report short-term potency outcomes with a cautery-free technique (CFT) to preserve the neurovascular bundles (NVB) during robotic laparoscopic radical prostatectomy (LRP). PATIENTS AND METHODS All men were <66 years of age and had a Sexual Health Inventory in Men (SHIM) score of 22 to 25. They underwent unilateral or bilateral dissections. Group 1 (N = 23), the study group, had preservation of the NVB with CFT. Group 2 (N = 36) had traditional dissection using bipolar cautery. Data were collected prospectively via validated questionnaires. Potency was defined as an erection adequate for vaginal penetration. RESULTS At 3 months, 10 patients (43%) in the CFT group reported potency versus just 3 (8.3%) in the bipolar-cautery group (P = 0.003). Additionally, only 2 (18%) of those having CFT reported zero penile fullness compared with 15 (68%) in the bipolar-cautery group (P = 0.01). CONCLUSIONS The technique of controlling the vascular pedicle of the prostate and dissecting the NVB without cautery produced significant improvement in potency outcomes at just 3 months.
Should India Use Foreign Exchange Reserves for Financing Infrastructure

India's foreign exchange reserves increased during the 1990s as a result of measures introduced to liberalise capital inflows under the financial sector reforms undertaken since 1991. The Reserve Bank of India, in consultation with the government, currently manages foreign exchange reserves. As the objectives of reserve Mzanagenment are liquidity and safety, attention is paid to the currency composition and duration of investment so that a significant proportion can be converted into cash at short notice. The government of India intended to use a part of its foreign exchange reserves to finance infrastructure. Infrastructure projects in India yield low or negative returns due to difficulties political and economic especially in adjusting the tariff structure, introducing labour reforms and upgrading technology. There is no evidence that any other country has used foreign exchange reserves to finance infrastructure. The amount of foreign exchange reserves in India is modest when contpared to some of the other countries in the region and it can be argued that the proposed plan may lead to more economic difficulties than anticipated benefits.
BASRAH: an automatic system to identify the meter of Arabic poetry

Abstract Arabic prosody is the science that studies the music of Arabic poetry, which is mainly meter and rhyme. The identification of meters for Arabic verses or poems is a complicated task. This task requires a certain level of expertise to identify the meter to which a verse belongs. In this paper, we present BASRAH1, a system that automatically identifies the meter of Arabic poetry by using the numerical prosody method. The numerical prosody method depends on verse coding, which is derived from the general concept of Al-Khalil's feet by using two primary units (cord = 2) and (peg = 3). On testing both old and modern Arabic verses and poems, BASRAH has proved to be an efficient tool to help inexperienced users to determine the meter of Arabic verses and poems.
Self-mutilating behaviour and deliberate ingestion of foreign bodies.

CASE HISTORY. The patient is a thirty-seven year old single man of below normal intelligence (IQ = 74, Wechsler Adult Intelligence Scale). He has always lived at home with his parents and has never formed any lasting relationships outside his immediate family. He left school at the age of sixteen, and worked in unskilled jobs until six years later when he started to abuse alcohol, after which his work record deteriorated. He first presented to hospital aged 25 years in 1979 having taken an overdose of sleeping tablets. Not until 1982 did he begin coming regularly to the acute general hospitals in Belfast with ingestion of various foreign bodies, overdoses and superficial cutaneous injuries (Figs 1 and 2). Typically these episodes occurred in the context of an episode of family friction and alcohol consumption. He has been admitted to psychiatric hospitals on twenty-five occasions, and has been diagnosed as having a personality disorder with no evidence of mental illness. Throughout this time he has generally been uncooperative with any attempts at therapy or rehabilitation. During the period 1982-1988 he required admission to acute medical or surgical beds on more than sixty occasions following episodes of self harm or foreign-body ingestion (Table). During this time he has had approximately 250 X rays performed and has spent more than 170 days in general hospital beds. Abdominal surgery has been required twice, endoscopy on at least five occasions and a few minor operative procedures for removal of needles stuck in various parts of his body. The estimated cost of his acute general hospital admissions alone exceeds £26,000 based on the estimate that an NHS acute bed costs on average £130.00 for 24 hours and an X-ray £12.00 per unit, although costs in different hospitals vary (quotation for cost year 1988-89). This excludes theatre time, admissions to psychiatric units and attendances at accident and emergency departments.
A calibrated human Y-chromosomal phylogeny based on resequencing

We have identified variants present in high-coverage complete sequences of 36 diverse human Y chromosomes from Africa, Europe, South Asia, East Asia, and the Americas, representing eight major haplogroups. After restricting our analysis to 8.97 Mb of the unique male-specific Y sequence, we identified 6662 high-confidence variants, including single-nucleotide polymorphisms (SNPs), multi-nucleotide polymorphisms (MNPs), and indels. We constructed phylogenetic trees using these variants, or subsets of them, and recapitulated the known structure of the tree. Assuming a male mutation rate of 1 × 10−9 per base pair per year, the time depth of the tree (haplogroups A3-R) was ∼101,000–115,000 yr, and the lineages found outside Africa dated to 57,000–74,000 yr, both as expected. In addition, we dated a striking Paleolithic male lineage expansion to 41,000–52,000 yr ago and the node representing the major European Y lineage, R1b, to 4000–13,000 yr ago, supporting a Neolithic origin for these modern European Y chromosomes. In all, we provide a nearly 10-fold increase in the number of Y markers with phylogenetic information, and novel historical insights derived from placing them on a calibrated phylogenetic tree.
Introduction: Evaluation Techniques for Animal Well-being

introduction to and exposition on the recognition and assessment of animal well-being and some specific examples of how well-being may be enhanced in the laboratory setting. The session began with two general papers. The first, by Dr Vera Baumans, considered general principles relating to the definition of animal well-being and its measurement using behavioural and physiological parameters. The second paper, by Dr Chris Sherwin, dealt with ways of assessing animals’ perceptions of their environment and the advantages and limitations when interpreting the choices animals make between different alternatives. There followed three more specific papers. Dr Georgia Mason discussed non-invasive and non-aversive measures of stress in laboratory rats, Dr Sarah Wolfensohn outlined several environmental and handling methods that minimise stress in colonies of large primates, and Eva Waiblinger examined practical housing and husbandry solutions that markedly reduce stereotypies in gerbils. Finally, Dr Manuel Berdoy presented an account of changes in behaviour of laboratory rats that were released into an outdoor environment, and thereby explored whether breeding over many generations in the laboratory had eliminated expression of their innate “wild” behaviour. Introduction: Evaluation Techniques for Animal Well-being
Number-needed-to-treat analysis of the prevention of myocardial infarction and death by antidyslipidemic therapy.

BACKGROUND Atherosclerosis of the coronary arteries is the most common cause of death in the United States for persons over the age of 45. Dyslipidemia is one of the risk factors for the development of coronary atherosclerosis. Recent studies suggest that treating dyslipidemia in persons with coronary atherosclerosis may decrease morbidity and mortality. METHODS A meta-analysis of 33 studies on the clinical and angiographic benefits of treating dyslipidemia in the prevention of morbidity and mortality from cardiovascular disease was performed. These benefits are quantitated in the form of "number needed to treat" (NNT) as an estimate of the public health benefit. The NNT is defined as the number of people that need to be treated to prevent one event. RESULTS Treatment of dyslipidemia in persons with multiple atherosclerosis risk factors alone, ie, primary prevention, was effective in preventing myocardial infarction and all-cause death. In six trials of primary prevention, excluding the British cooperative trial using clofibrate, the NNT was 53 to prevent a nonfatal MI and 190 to prevent all-cause death (4.8 years treatment with total cholesterol reduction of 15%). Treatment of dyslipidemia in people with known atherosclerosis, ie, secondary and tertiary prevention, was also effective in preventing myocardial infarctions and death from all causes. For 23 trials of secondary and tertiary prevention, the NNT was 37 to prevent death from any cause (4.9 years treatment with total cholesterol reduction of 18%). In the trials with quantitative angiography, the NNT was 7 to prevent progression of coronary atherosclerosis and 10 to induce regression of coronary atherosclerosis (2.5 years treatment with a low-density lipoprotein cholesterol reduction of 28%). Similar benefits were observed in those trials employing HMG CoA reductase inhibitors. Benefits may be similar with niacin or dietary therapy, but these therapies did not reach significance in all categories of benefits, potentially due to beta error. These treatment benefits are comparable to other secondary prevention measures such as aspirin or beta blockers. The benefits appeared to extend to persons over 65, with less clearly defined benefits for women. CONCLUSIONS These results support the overall clinical benefit of treating dyslipidemia, both in persons with and without known atherosclerosis.