Miracle-dz/UniFAR-FTUs huggingface dataset:
Autosomal recessive Rolandic epilepsy with paroxysmal exercise‐induced dystonia and writer's cramp: Delineation of the syndrome and gene mapping to chromosome 16p12‐11.2

We describe a pedigree in which 3 members in the same generation are affected by Rolandic epilepsy (RE), paroxysmal exercise‐induced dystonia (PED), and writer's cramp (WC). Both the seizures and paroxysmal dystonia had a strong age‐related expression that peaked during childhood, whereas the WC, also appearing in childhood, has been stable since diagnosis. Genome‐wide linkage analysis performed under the assumption of recessive inheritance identified a common homozygous haplotype in a critical region spanning 6 cM between markers D16S3133 and D16S3131 on chromosome 16, cosegregating with the affected phenotype and producing a multipoint LOD score value of 3.68. Although its features are unique, this syndrome presents striking analogies with the autosomal dominant infantile convulsions and paroxysmal coreoathetosis (ICCA) syndrome, linked to a 10 cM region between D16S401 and D16S517, which entirely includes the 6 cM of the RE–PED–WC critical region. The same gene may be responsible for both RE–PED–WC and ICCA, with specific mutations explaining each of these Mendelian disorders. This report shows that idiopathic focal disorders such as epilepsy and dystonia, can be caused by the same genetic abnormality, may have a transient expression, and may be inherited as an autosomal recessive trait. Ann Neurol 1999;45:344–352
Effectiveness versus Efficiency: Growth-Accelerating Policies in a Model of Growth without Scale Effects

Abstract Recent R&D growth models without strong scale effects imply that long-run growth rates depend only on parameters that are usually taken to be exogenous. However, integrating human capital accumulation into models of this type, Arnold (2002) demonstrates that subsidizing education accelerates growth. The present paper addresses welfare issues in Arnold’s model. The main theoretical finding of the paper is that a system of subsidies that implements the optimal balanced growth path as a decentralized equilibrium includes zero subsidies to education, while R&D activity should be either subsidized or taxed. To shed further light on the latter result, the model is calibrated and it turns out that along the balanced growth path, the decentralized economy underinvests in R&D, i.e. R&D activities should be subsidized.
Immigrant Links to the Home Country: Empirical Implications for U.S. Bilateral Trade Flows

Immigrants' ties to their home countries can play a key role in fostering bilateral trade linkages. Immigrant ties include knowledge of home-country markets, language, preferences, and business contacts that have the potential to decrease trading transaction costs. Empirical results for the United States suggest that immigrant links have historically been important in increasing bilateral trade flows with immigrants' home countries. Copyright 1994 by MIT Press.
Strategies to prevent arterial injury caused by dilator should be integrated into routine clinical practice.

under general anesthesia. A 20-g catheter was introduced into the right radial artery after induction for invasive pressure monitoring. About 30 min later, the intraarterial blood pressure (IABP) declined to about 60/10 mm Hg, while the automatic noninvasive blood pressure (NIBP) device displayed a pressure of 100/60 mm Hg. Neosynephrine was administered based on the IABP readings; however, the NIBP repeatedly displayed higher values than the IABP. A transducer system artifact was suspected; however, the arterial transducer system displayed a believable arterial pressure wave form (pulsatile trace with dicrotic notch) (Fig. 1), zeroed appropriately, was calibrated to 100 mmHg test signal, and had a “square wave” with a “fast flush” test (Fig. 1) (1–3). The physiologic monitor pressure channel (Hewlett Packard Component Monitoring System, Waltham, MA) was switched, then the transducer cable was switched without any change in the IABP agreement with NIBP. Finally, the transducer sensor/mounting plate was switched and the IABP and NIBP matched. Inspection of the transducer sensor/mounting plate disclosed a damaged diaphragm (Fig. 2). The Medex LogicCal disposable transducer system (Medex, Columbus, OH) has the transducer sensor built into a reusable transducer mounting plate and interfaces with the disposable pressure tubing via a flexible diaphragm. This transducer system had been in use in our hospital for about 2 yr; thus, the sensor was at most 2 yr old. Like the case described by Skidmore et al, one clue that our patient was experiencing artifactual hypotension was that the NIBP was consistently higher than the IABP. A more specific clue that our patient’s transducer system was abnormal was that the troughs of the oscillations after the fast flush test (Fig. 1) were truncated at zero, instead of being visible. Like Skidmore et al., we also recommend that anesthesiologists routinely visually inspect pressure transducer cables and transducers.
Retention of Subunits of the Oligosaccharyltransferase Complex in the Endoplasmic Reticulum*

Membrane proteins of the endoplasmic reticulum (ER) may be localized to this organelle by mechanisms that involve retention, retrieval, or a combination of both. For luminal ER proteins, which contain a KDEL domain, and for type I transmembrane proteins carrying a dilysine motif, specific retrieval mechanisms have been identified. However, most ER membrane proteins do not contain easily identifiable retrieval motifs. ER localization information has been found in cytoplasmic, transmembrane, or luminal domains. In this study, we have identified ER localization domains within the three type I transmembrane proteins, ribophorin I (RI), ribophorin II (RII), and OST48. Together with DAD1, these membrane proteins form an oligomeric complex that has oligosaccharyltransferase (OST) activity. We have previously shown that ER retention information is independently contained within the transmembrane and the cytoplasmic domain of RII, and in the case of RI, a truncated form consisting of the luminal domain was retained in the ER. To determine whether other domains of RI carry additional retention information, we have generated chimeras by exchanging individual domains of the Tac antigen with the corresponding ones of RI. We demonstrate here that only the luminal domain of RI contains ER retention information. We also show that the dilysine motif in OST48 functions as an ER localization motif because OST48 in which the two lysine residues are replaced by serine (OST48ss) is no longer retained in the ER and is found instead also at the plasma membrane. OST48ss is, however, retained in the ER when coexpressed with RI, RII, or chimeras, which by themselves do not exit from the ER, indicating that they may form partial oligomeric complexes by interacting with the luminal domain of OST48. In the case of the Tac chimera containing only the luminal domain of RII, which by itself exits from the ER and is rapidly degraded, it is retained in the ER and becomes stabilized when coexpressed with OST48.
Mining, development and corporate–community conflicts in Peru

Peru has been the largest gold producer in Latin America since 1996. This is mainly attributable to the open-pit gold mines in the northern regions of Ancash, Cajamarca and La Libertad, which are managed by Barrick Gold Corporation and Newmont Mining Corporation. The expansion of these large-scale mining projects has engendered social protests and conflicts that, in a context of weak institutions, have developed with little oversight from the central government. In some cases, corporate-community conflicts have driven mining corporations towards more responsible management of natural resources. For example, in some remote areas, the mining industry has filled the gap left by the State and has promoted sustainable socio-economic development through public-private partnerships. However, evidence indicates that an enhanced democratic framework with more attentive public management of natural resources is needed before such best practices may be established as the norm rather than the exception. Sustainable mining goes hand-in-hand with good governance.
Spatial orientation in the cubicle

Purpose – The purpose of this paper is to investigate the influence of worker orientation in their cubicles on workplace behavior and experience.Design/methodology/approach – Data were collected via written surveys, oral interviews, and workspace observations.Findings – Based on computer location, cubicle occupants in a large corporate office were classified as facing out or facing into the corner of their cubicle. People faced out to enhance communication, to protect the confidentiality of material they were working with, and to avoid being startled. Those facing in did so to reduce distractions and/or physical constraints. The chief disadvantages of facing in were loss of confidentiality and the possibility of being startled by people approaching from the rear. Cubicle occupants whose computers faced out, relative to those facing in, maintained that their spatial orientation had a positive effect on communication and morale within the work unit. Respondents used nonverbal signals to modulate interaction.
Regulation of Cellular Genes in a Chromosomal Context by the Retinoblastoma Tumor Suppressor Protein

ABSTRACT The retinoblastoma tumor suppressor gene product (pRb) is involved in controlling cell cycle progression from G1 into S. pRb functions, in part, by regulating the activities of several transcription factors, making pRb involved in the transcriptional control of cellular genes. Transient-transfection assays have implicated pRb in the transcription of several genes, including c-fos, the interleukin-6 gene, c-myc,cdc-2, c-neu, and the transforming growth factor β2 gene. However, these assays place the promoter in an artificial context and exclude the effects of far 5′ upstream regions and chromosomal architecture on gene transcription. In these experiments, we have studied the role of pRb in the control of cell cycle-related genes within a chromosomal context and within the context of the G1 phase of the cell cycle. We have used adenovirus vectors to overexpress pRb in human osteosarcoma cells and breast cells synchronized in early G1. By RNase protection assays, we have assayed the effects of this virus-produced pRb on gene expression in these cells. These results indicate that pRb is involved in the transcriptional downregulation of the E2F-1, E2F-2, dihydrofolate reductase, thymidine kinase, c-myc, proliferating-cell nuclear antigen, p107, and p21/Cip1 genes. However, it has no effect on the transcription of the E2F-3, E2F-4, E2F-5, DP-1, DP-2, or p16/Ink4 genes. The results are consistent with the notion that pRb controls the transcription of genes involved in S-phase promotion. They also suggest that pRb negatively regulates the transcription of two of the transcription factors whose activity it also represses, E2F-1 and E2F-2, and that it plays a role in downregulating the immediate-early gene response to serum stimulation.
Cloning of genes for naphthalene metabolism in Pseudomonas putida

Plasmid pIG7 DNA cloned in Pseudomonas putida with the broad-host-range vectors pRK290 and pKT240 expresses the genes encoding nephthalene oxidation in the presence of the intermediate substrate, salicylate, or the gratuitous inducer, anthranilate. Two operons, nahAF and nahGK, cloned from the EcoRI fragment A (25 kilobases) are under wild-type regulation by the nahR locus. Deletion plasmids provide a restriction map of both operons. Double transformants containing structural and regulatory cistron nahR in trans are used to demonstrate positive control of expression.
Using School Scholarships to Estimate the Effect of Government Subsidized Private Education on Academic Achievement in Chile

This paper estimates the impact of private education on low-income students in Chile. We attempt to reduce selection bias by using reduced-tuition paying, low-income students in private schools as the treatment group, based on our finding that these students were, to some extent, randomly selected out of the public school control group. Propensity score matching is then used to calculate the difference in academic achievement of students in the treatment group versus their counterpart in the control group. Our results reveal that students in private voucher schools with tuition score slightly higher than students in public schools. The difference in standardized test scores is approximately 8 points, a test score gain of almost 0.15 standard deviations.
Estimation of Vowel Recognition With Cochlear Implant Simulations

Because there are many parameters in the cochlear implant (CI) device that can be optimized for individual patients, it is important to estimate a parameter's effect before patient evaluation. In this paper, Mel-frequency cepstrum coefficients (MFCCs) were used to estimate the acoustic vowel space for vowel stimuli processed by the CI simulations. The acoustic space was then compared to vowel recognition performance by normal-hearing subjects listening to the same processed speech. Five CI speech processor parameters were simulated to produce different degree of spectral resolution, spectral smearing, spectral warping, spectral shifting, and amplitude distortion. The acoustic vowel space was highly correlated with normal hearing subjects' vowel recognition performance for parameters that affected the spectral channels and spectral smearing. However, the acoustic vowel space was not significantly correlated with perceptual performance for parameters that affected the degree of spectral warping, spectral shifting, and amplitude distortion. In particular, while spectral warping and shifting did not significantly reshape the acoustic space, vowel recognition performance was significantly affected by these parameters. The results from the acoustic analysis suggest that the CI device can preserve phonetic distinctions under conditions of spectral warping and shifting. Auditory training may help CI patients better perceive these speech cues transmitted by their speech processors
Fighting discrimination and exclusion: Civil society and immigration policies in Italy

Migration policies in recent years have turned to growing restrictions and tighter controls in most countries, not only at national level but often also at local level. But several actors from civil society have tried to counteract this trend, protesting, organizing advocacy actions, providing services and promoting networks. Italy is a case in point: from the beginning of the arrival of immigration flows in the ’80, the reception of the newcomers and the defence of their rights has been provided mainly by non-public actors: trade unions, voluntary associations, social movements, catholic institutions. In the last decade, Italian immigration policies have hardened, above all in the period 2008-2011, with the advent of a securitarian discourse. Many civil society organizations struggled against these policies. The article will present two case studies: 1) the Association “Avvocati per niente”, that defends the immigrants against local policies of exclusion; 2) NAGA and OSF, two Associations engaged in health care for irregular immigrants in Milan. The articles explore motivations, discourses, strategies, alliances and outcomes of their action.
Neovascularization is prominent in the chronic inflammatory lesions of Sjögren's syndrome

Angiogenesis is a common finding in chronic inflammatory diseases; however, its role in Sjögren's syndrome (SS) remains to be elucidated. Previous SS studies have demonstrated an increase in VEGF‐A/VEGFR‐2 system expression in minor salivary gland (MSG) biopsies from patients with SS, but differences in the new blood vessel formation between the different grades of disease severity have not been reported. Therefore, experiments were performed to demonstrate angiogenesis during different phases of primary SS (pSS) and to define the relationship between the microvessel density (MVD), macrophage infiltration and histiocyte distribution in SS MSG inflammatory lesions. In this series of experiments, immunohistochemistry was used to examine angiogenesis in serial sections of pSS MSG. Patients with pSS were classified accordingly with the grade of inflammatory lesions as I = low‐grade (low focus score of 1 or 2), II = intermediate‐grade (focus score of 3–6) and III = extensive inflammation in the MSG (high focus score of 12). Histological examination demonstrated that the MVD increased with the severity of the inflammatory lesions, and in addition, we found an increased infiltration of inflammatory and pro‐angiogenic cells.These findings reveal that angiogenesis is intimately involved in the progression of pSS, may be central to the propagation of the chronic immune response observed in pSS and could represent a novel potential biomarker of pSS disease activity.
Lichen sclerosus: evidence that immunological changes occur at all levels of the skin

An immunohistochemical approach was used to characterize the inflammatory infiltrate in vulval lichen sclerosus, using monoclonal antibodies to CD3, CD4, CD8, CD68 and HLA‐DR. Significant numbers of CD4 + and CD8 + lymphocytes were observed in the dermal band of inflammatory cells in approximately equal proportions. Less numerous CD4 + and CD8 + lymphocytes also occurred adjacent to the dermoepidermal junction and occasionally in the lower epidermis. Increased numbers of cells staining with the monocyte/macrophage marker CD68 were also present in the band of inflammatory cells as well as being scattered diffusely throughout the sclerotic region. Expression of HLA‐DR in the lichen sclerosus specimens was increased within the inflammatory infiltrate and around blood vessels in the dermis. All the vulval lichen sclerosus specimens also demonstrated some HLA‐DR expression around the keratinocytes, suggesting that these keratinocytes might be involved in antigen presentation. We also studied the expression of CD44 and its isoforms 3G5 (marker of V3), 8G5 (marker of V6), 3D2 (marker of V4/5) and IE8 (marker of V8/9). CD44 has been proposed to play a part in lymphocyte homing, cell–matrix interaction (particularly with hyaluronic acid), lymphocyte activation and malignant progression of certain tumours. The epidermis of the lichen sclerosus specimens appeared to demonstrate a greater intensity of staining with the pan‐CD44 marker F10‐44, and reduced staining with 3G5, 3D2 and IE8 compared with normal skin. Like normal skin, the dermis of the lichen sclerosus specimens did not demonstrate staining with 3G5, 3D2, 8G5 or 1E8, but did show staining with F10‐44. However, the pattern of the dermal staining with F10‐44 reflected the position of the inflammatory infiltrate and was sparse in the five sections where there was a prominent sclerotic zone, but increased in the three sections where there was a prominent band of inflammation cells. Our results demonstrate evidence of immunological changes at all levels of skin involved by lichen sclerosus, including the epidermis.
Catecholamines in peripheral venous plasma in patients on chronic haemodialysis.

1. Concentrations of noradrenaline and adrenaline from peripheral venous plasma were measured after 60 min of supine rest in 55 patients on chronic haemodialysis (including six anephric patients) and in 18 normal subjects. In the patients, plasma catecholamine measurements were related to concurrent measurements of blood pressure, pulse rate, plasma renin activity, plasma angiotension II, blood volume and sulphate space. 2. Mean resting peripheral venous plasma noradrenaline concentration was higher by almost twofold, but mean resting plasma adrenaline concentration was lower, in the 49 non-nephrectomized patients than in the normal subjects. In the six anephric patients, resting peripheral venous plasma noradrenaline concentrations were similar to those of normal subjects. 3. Mean resting plasma noradrenaline concentrations in peripheral venous blood were similar in normotensive and hypertensive non-nephrectomized patients; mean plasma adrenaline concentration was higher in the hypertensive patients. A positive correlation was found between plasma adrenaline and plasma renin activity but not between plasma noradrenaline and plasma renin activity. 4. Resting concentrations of both catecholamines were positively correlated with resting pulse rate and inversely related to blood volume. 5. After renal transplantation resting peripheral venous plasma noradrenaline concentrations were normal in eight patients in whom high values had been recorded whilst on chronic haemodialysis. 6. In response to 40° of head-up tilt, plasma noradrenaline increased significantly in six non-nephrectomized patients, whether sodium replete or depleted, and the changes observed in both these states were similar to those of 14 normal subjects studied on a normal diet. 7. Diastolic blood pressure increased on standing in the majority (41/55) of patients: in only four patients was there a fall in diastolic pressure of more than 5 mmHg in the erect position and in two of these blood volumes were low. 8. The cause of increased peripheral plasma noradrenaline concentrations in haemodialysis patients is uncertain.
Disaster preparedness and Business Continuity Planning at Boeing: An integrated model

Traditionally, facilities professionals are responsible for maintaining business operations after a disaster by safeguarding people and the physical infrastructure. While most organisations equate disaster preparedness to business continuity, the aftermath of 9/11 brought forth some startling realisations about business survival and business crisis. Boeing, a global company that was affected in a number of unexpected ways, embarked on an approach that separated, yet integrated the Disaster Preparedness Community with the Business Community. The result was a Business Continuity Model that fostered further development of robust Business Continuity Plans to serve employees, customers, stakeholders and community. Facilities professionals, equipped with an understanding of today’s business crisis and the Business Continuity Model, can serve as a partner to their Business Continuity Representative to educate, develop and execute a Business Continuity Plan that ensures business continuance through any unforeseen event.