Miracle-dz/UniFAR-FTUs huggingface dataset:
CMT1X phenotypes represent loss of GJB1 gene function

Objective: To investigate possible genotype–phenotype correlations and to evaluate the natural history of patients with Charcot–Marie–Tooth disease type 1X (CMT1X). Background: CMT1X is caused by over 260 distinct mutations in the gap junction beta 1 (GJB1) gene, located on the X chromosome, which encodes the gap junction protein connexin 32 (Cx32). The natural history of CMT1X is poorly understood, and it remains unknown whether particular mutations cause more severe neuropathies through abnormal gain-of-function mechanisms. Methods: We evaluated 73 male patients with CMT1X, who each have 1 of 28 different GJB1 mutations predicted to affect nearly all domains of Cx32. Disability was evaluated quantitatively by the CMT Neuropathy Score (CMTNS) as well as by the CMT Symptom Score (CMTSS) and the CMT Examination Score (CMTES), which are both based on the CMTNS. Patients were also evaluated by neurophysiology. Results: In all patients, disability increased with age, and the degree of disability was comparable with that observed in patients with a documented GJB1 deletion. Disability correlated with a loss of motor units as assessed by motor unit number estimates. Conclusions: Taken together, these data suggest that most GJB1 mutations cause neuropathy by a loss of normal connexin 32 function. Therefore, treatment of male patients with Charcot–Marie–Tooth disease type 1X may prove amenable to gene replacement strategies.
Interests of Residual Renal Function in Peritoneal Dialysis

Background: Decline of Residual renal function (RRF) is commonly observed in dialysis patients. RRF may play a significant role in the treatment adequacy and outcomes of dialysis patients. Several prospective observational and interventional studies have shown that the presence of RRF was associated with an improved outcome and a reduced mortality in dialysis patients. Preserving RRF is an old holistic dream that still remains to date a source of debate among the nephrologists. The aim of our study was to evaluate the impact of preservation of residual renal function in peritoneal dialysis (PD). Methods: The study was retrospective, descriptive and analytical including patients on peritoneal dialysis in the Nephrology Department of Sahloul Hospital in Sousse during the period from 1 December 2006 to 30 June 2014. We noted clinical and biological parameters for patients with and without RRF. The FRR was defined as a residual clearance upper than 1 ml/min. All statistical analysis was performed with SPSS statistical software version 20. For each parameter the mean ± deviation was calculated. The significance of effects was tested using analysis of variance (ANOVA). Values <0.05 were considered significant. Multiple regression analysis was performed in order to investigate the relationship between RRF and various independent variables (age, gender, blood pressure, and etiology of end stage renal disease). Results: During the study period, 48 patients were collected. RRF was found in 71% of patients with PD. Several benefits were demonstrated: better control of anemia (9.2 vs. 8.01 g/dl), better balance of uricemia (303 vs. 393 μmol/l) a better balance of phosphorus (1.4 vs. 1.8 mmol/l) and a lower risk of peritonitis (absence of peritonitis in 71 vs. 30%). Conclusion: The FRR is an important parameter that should be taken into account in our medical care in dialysis. Its protection should therefore be considered and it responds to many factors.
COPD increases the risk of squamous histological subtype in smokers who develop non-small cell lung carcinoma

Background: Squamous cell carcinoma has a stronger association with tobacco smoking than other non-small cell lung cancers (NSCLC). A study was undertaken to determine whether chronic obstructive pulmonary disease (COPD) is a risk factor for the squamous cell carcinoma histological subtype in smokers with surgically resectable NSCLC. Methods: Using a case-control design, subjects with a surgically confirmed diagnosis of squamous cell carcinoma were enrolled from smokers undergoing lung resection for NSCLC in the District Hospital of Ferrara, Italy. Control subjects were smokers who underwent lung resection for NSCLC in the same hospital and had a surgically confirmed diagnosis of NSCLC of any histological type other than squamous cell. Results: Eighty six cases and 54 controls (mainly adenocarcinoma, n = 50) were enrolled. The presence of COPD was found to increase the risk for the squamous cell histological subtype by more than four times. Conversely, the presence of chronic bronchitis was found to decrease the risk for this histological subtype by more than four times. Among patients with chronic bronchitis (n = 77), those with COPD had a 3.5 times higher risk of having the squamous cell histological subtype. Conclusions: These data suggest that, among smokers with surgically resectable NSCLC, COPD is a risk factor for the squamous cell histological subtype and chronic bronchitis, particularly when not associated with COPD, is a risk factor for the adenocarcinoma histological subtype.
Cranioplasty after decompressive craniectomy: An institutional audit and analysis of factors related to complications

Background: Although a relatively simple procedure, cranioplasties have been associated with high complication rates. Keeping this in perspective, we aimed to determine the factors associated with immediate and long-term complications of cranioplasties at our institution. Methods: A retrospective review of patient records was carried out for patients having undergone reconstructive cranioplasties at our institution during the last 10 years (2001-2010). All case notes, records, and investigations were reviewed and the data were recorded in a predesigned questionnaire. Complications were recorded along with existing comorbids and measures taken for their prevention and management. Univariate and multivariate logistic regression analysis was performed to determine possible predictors of complications. Results: A total of 96 patients with a mean age of 33 + 15 years were included in the study. Of the sample, 76% (n = 73) had no comorbids. The leading primary pathology was blunt traumatic brain injuries in 46% (n = 44), followed by cerebrovascular incidents in 24% (n = 23), penetrating traumatic brain injuries in 12% (n = 11), and tumors in 10% (n = 10) of cases, with 41% (n = 39) of patients requiring multiple craniotomies. In a mean follow-up of 386 ± 615 days, complications were noted in 36.5% (n = 35) of the patients. Twenty six percent of patients (n = 25) had minor complications which included breakthrough seizures (15.6%, n = 15), subgaleal collections (3.1%, n = 3), and superficial wound infections (3.1%, n = 3), whereas major complications (10.4% n = 10) included hydrocephalus (3.1%, n = 3), transient neurological deficits (3.1%, n = 3), and osteomyelitis (2.1%, n = 2). Univariate and multivariate analysis revealed External Ventricular Drain (EVD) placement and parietal flaps to be associated with complications. This could be explained by the fact that the patients requiring EVD usually have relatively severe head injuries, increasing the possibility of hydrocephalus. Conclusion: We have found a higher risk of complications of cranioplasty in patients who had EVD placement and removal prior to their constructive surgery. We however did not find any association between risks of complications in any other studied variable. We also did not find any association between intraoperative placement of subgaleal drains and postoperative risk of subgaleal fluid collections. Overall, our results are comparable with other reported series on cranioplasties.
0 Ju l 2 01 6 ON COMPUTING KRULL DIMENSION OF RESIDUE CLASS POLYNOMIAL RINGS OVER INTEGRAL DOMAINS USING GRÖBNER BASES

Given an ideal a in A[x 1 ,. , x n ], where A is a Noetherian integral domain , we propose an approach to compute the Krull dimension of A[x 1 ,. , x n ]/a, when the residue class polynomial ring is a free A-module. When A is a field, the Krull dimension of A[x 1 ,. , x n ]/a has several equivalent algorithmic definitions by which it can be computed. But this is not true in the case of arbitrary Noetherian rings. For a Noetherian integral domain, A we introduce the notion of combinato-rial dimension of A[x 1 ,. , x n ]/a and give a Gröbner basis method to compute it for residue class polynomial rings that have a free A-module representation w.r. t. a lexicographic ordering. For such A-algebras, we derive a relation between Krull dimension and combinatorial dimension of A[x 1 ,. , x n ]/a. An immediate application of this relation is that it gives a uniform method, the first of its kind, to compute the dimension of A[x 1 ,. , x n ]/a without having to consider individual properties of the ideal. For A-algebras that have a free A-module representation w.r. t. degree compatible monomial orderings, we introduce the concepts of Hilbert function, Hilbert series and Hilbert polynomials and show that Gröbner basis methods can be used to compute these quantities. We then proceed to show that the combinatorial dimension of such A-algebras is equal to the degree of the Hilbert polynomial. This enables us to extend the relation between Krull dimension and combinatorial dimension to A-algebras with a free A-module representation w.r. t. a degree compatible ordering as well.
A Comparison of Anatomical and Metallic Implant Methods

Objective: To test the hypothesis that there is no difference between the information produced by superimposition of serial lateral headfilms on anatomical structures and that produced by su- perimposition on metallic implants according to the protocols of Bjork. Materials and Methods: Serial cephalograms of 10 untreated subjects who had tantalum implants placed in the maxilla and mandible during childhood were analyzed. Headfilms taken at six con- secutive stages of cervical vertebral maturation (CS1-CS6) for six female and four male subjects were used. Tracings were superimposed according to the methods of superimpositions advocated by the American Board of Orthodontics (ABO). In addition, superimpositions along the inferior border of the mandible were performed. Finally, superimpositions of serial tracings on stable intraosseous implants were made to determine the actual growth and remodeling patterns of the maxilla and mandible. Results: The ABO maxillary superimposition method underestimates the vertical displacement and overestimates the forward movement of maxillary landmarks. Superimposing on the internal cortical outline of the symphysis and the inferior alveolar nerve canals generally approximates the mandibular superimposition on implants, although the lower anterior border of the symphysis may be a preferable area of superimposition. Superimposition on the lower border of the mandible does not reflect accurately the actual pattern of growth and remodeling of the mandible. Conclusions: When analyzing serial headfilms, erroneous information concerning patterns of bone growth and remodeling can be obtained if convenient, but biologically incorrect superim- position protocols are used. In addition, tooth movements measured can be distorted significantly depending on the method of superimposition.
Collaboration in social network-based information dissemination

Connectivity and trust within social networks have been exploited to build applications on top of these networks, including information dissemination, Sybil defenses, and anonymous communication systems. In these networks, and for such applications, connectivity ensures good performance of applications while trust is assumed to always hold, so as collaboration and good behavior are always guaranteed. In this paper, we study the impact of differential behavior of users on performance in typical social network-based information dissemination applications. We classify users into either collaborative or rational (probabilistically collaborative) and study the impact of this classification and the associated behavior of users on the performance on such applications. By experimenting with real-world social network traces, we make several interesting observations. First, we show that some of the existing social graphs have high routing costs, demonstrating poor structure that prevents their use in such applications. Second, we study the factors that make probabilistically collaborative nodes important for the performance of the routing protocol within the entire network and demonstrate that the importance of these nodes stems from their topological features rather than their percentage of all the nodes within the network.
Real-time spectrum sensor based on USRP

Cognitive radio (CR) technology promises to be one possible solution to address the lack of spectrum resources. The dynamic spectrum access approach is one of the key elements of CR, as it allows unlicensed users to access unused licensed frequency bands. In order to detect the presence of licensed users, one of the main tasks that a CR equipment has to perform is the spectrum sensing process. In this paper a real-time spectrum sensor implementation based on the Universal Software Radio Peripheral (USRP) platform is presented. Hardware and software details regarding the described prototype are given, together with aspects related to the optimal configuration of the used platform for such an application.
Cytoplasmic Incompatibility as a Means of Controlling Culex pipiens quinquefasciatus Mosquito in the Islands of the South-Western Indian Ocean

The use of the bacterium Wolbachia is an attractive alternative method to control vector populations. In mosquitoes, as in members of the Culex pipiens complex, Wolbachia induces a form of embryonic lethality called cytoplasmic incompatibility, a sperm-egg incompatibility occurring when infected males mate either with uninfected females or with females infected with incompatible Wolbachia strain(s). Here we explore the feasibility of the Incompatible Insect Technique (IIT), a species-specific control approach in which field females are sterilized by inundative releases of incompatible males. We show that the Wolbachia wPip(Is) strain, naturally infecting Cx. p. pipiens mosquitoes from Turkey, is a good candidate to control Cx. p. quinquefasciatus populations on four islands of the south-western Indian Ocean (La Réunion, Mauritius, Grande Glorieuse and Mayotte). The wPip(Is) strain was introduced into the nuclear background of Cx. p. quinquefasciatus mosquitoes from La Réunion, leading to the LR[wPip(Is)] line. Total embryonic lethality was observed in crosses between LR[wPip(Is)] males and all tested field females from the four islands. Interestingly, most crosses involving LR[wPip(Is)] females and field males were also incompatible, which is expected to reduce the impact of any accidental release of LR[wPip(Is)] females. Cage experiments demonstrate that LR[wPip(Is)] males are equally competitive with La Réunion males resulting in demographic crash when LR[wPip(Is)] males were introduced into La Réunion laboratory cages. These results, together with the geographic isolation of the four south-western Indian Ocean islands and their limited land area, support the feasibility of an IIT program using LR[wPip(Is)] males and stimulate the implementation of field tests for a Cx. p. quinquefasciatus control strategy on these islands.
Dissimilatory iron reduction in Escherichia coli: identification of CymA of Shewanella oneidensis and NapC of E. coli as ferric reductases

Over geological time scales, microbial reduction of chelated Fe(III) or Fe(III) minerals has profoundly affected today's composition of our bio‐ and geosphere. However, the electron transfer reactions that are specific and defining for dissimilatory iron(III)‐reducing (DIR) bacteria are not well understood. Using a synthetic biology approach involving the reconstruction of the putative electron transport chain of the DIR bacterium Shewanella oneidensis MR‐1 in Escherichia coli, we showed that expression of cymA was necessary and sufficient to convert E. coli into a DIR bacterium. In intact cells, the Fe(III)‐reducing activity was limited to Fe(III) NTA as electron acceptor. In vitro biochemical analysis indicated that CymA, which is a cytoplasmic membrane‐associated tetrahaem c‐type cytochrome, carries reductase activity towards Fe(III) NTA, Fe(III) citrate, as well as to AQDS, a humic acid analogue. The in vitro specific activities of Fe(III) citrate reductase and AQDS reductase of E. coli spheroplasts were 10× and 30× higher, respectively, relative to the specific rates observed in intact cells, suggesting that access of chelated and insoluble forms of Fe(III) and AQDS is restricted in whole cells. Interestingly, the E. coli CymA orthologue NapC also carried ferric reductase activity. Our data support the argument that the biochemical mechanism of Fe(III) reduction per se was not the key innovation leading to environmental relevant DIR bacteria. Rather, the evolution of an extension of the electron transfer pathway from the Fe(III) reductase CymA to the cell surface via a system of periplasmic and outer membrane cytochrome proteins enabled access to diffusion‐impaired electron acceptors.
Influence of a performance-improvement initiative on quality of care for patients hospitalized with heart failure: results of the Organized Program to Initiate Lifesaving Treatment in Hospitalized Patients With Heart Failure (OPTIMIZE-HF).

BACKGROUND Despite evidence-based national guidelines for optimal treatment of heart failure (HF), the quality of care remains inadequate. We sought to evaluate the effect of a national hospital-based initiative on quality of care in patients hospitalized with HF. METHODS Two hundred fifty-nine US hospitals participating in the Organized Program to Initiate Lifesaving Treatment in Hospitalized Patients With Heart Failure (OPTIMIZE-HF) submitted data on 48 612 patients with HF from March 1, 2003, through December 31, 2004. Admission, hospital, discharge care, and outcomes data were collected using a Web-based registry that provided real-time feedback on performance measures benchmarked to other hospitals. Process-of-care improvement tools, including evidence-based best-practice algorithms and customizable admission and discharge sets, were provided. RESULTS Provision of complete discharge instructions and smoking-cessation counseling increased significantly (from 46.8%-66.5% and 48.2%-75.6%, respectively; P < .001 for both). Left ventricular function assessment started at a high rate (89.3%) and improved to 92.1% (P < .001). Angiotensin-converting enzyme inhibitors were prescribed at discharge to 75.8% of eligible patients, which did not improve during the 2-year study. There were trends for reduction of in-hospital mortality, postdischarge death, and combined postdischarge death and rehospitalization and a significant reduction in mean length of stay. Use of preprinted admission order sets and/or discharge checklists increased from 35.6% to 54.1% and was associated with an increase in the use of evidence-based therapies and lower risk-adjusted in-hospital mortality. CONCLUSIONS Participation in OPTIMIZE-HF was associated with an increase in use of evidence-based therapy, adherence to performance measures, and shorter lengths of stay in patients hospitalized with HF. Increased use of process-of-care improvement tools was associated with further improvements in quality of care. TRIAL REGISTRATION clinicaltrials.gov Identifier NCT00344513.
Combining color and geometry for the active, visual recognition of shadows

Shadows are a frequent occurrence, but they cannot be infallibly recognized until a scene's geometry and lighting are known. We present a number of cues which together strongly suggest the identification of a shadow and which can be examined with low cost. The techniques are: a color image segmentation method that recovers single material surfaces as single image regions irregardless of the surface partially in shadow, a method to recover the penumbra and umbra of shadow; a method for determining whether some object could be obstructing a light source. The last cue requires the examination of well understood shadows in the scene. Our observer is equipped with an extendable probe for casting its own shadows. Actively obtained shadows allow the observer to experimentally determine the location of the light sources in the scene. The system has been tested both indoors and out. <<ETX>>
The principles of dietary management of gestational diabetes: reflection on current evidence.

BACKGROUND Gestational diabetes (GDM) is the commonest metabolic disorder of pregnancy. Most women with GDM are treated with nutritional management alone. There are conflicting guidelines surrounding its dietary management and this has resulted in a lack of conformity to the dietary advice currently prescribed. There is also conflicting opinions to the effectiveness of dietary management of GDM on pregnancy outcomes. The aim of this review was to examine the scientific evidence for the optimal nutritional management of GDM. METHODS A Medline search of all English papers published between 1995 and 2001 that cross-referenced GDM with diet was under taken. Because of the poor quality of many of these papers, literature prior to 1995 known to the authors and considered relevant to the review were also included. RESULTS The evidence base in this area is of poor quality. One systematic review based on randomized control trials failed to show any benefit from dietary intervention in GDM. However, that review did not include informative clinical and observational studies that are not classified as randomized controlled trials. Overall current evidence points to the effectiveness of dietary advice as a means of improving maternal hyperglycaemia and reducing the risk of accelerated foetal growth. The evidence surrounding energy restriction, carbohydrate and fat manipulation in GDM remains controversial. CONCLUSIONS Current but limited evidence supports dietary alterations to reduce rates of accelerated foetal growth. There is a clear need for good quality randomized control trials in this area.
Symbolic music representation in MPEG

With the spread of computer technology into the artistic fields, new application scenarios for computer-based applications of symbolic music representation (SMR) have been identified. The integration of SMR in a versatile multimedia framework such as MPEG will enable the development of a huge number of new applications in the entertainment, education, and information delivery domains.
Lipopolysaccharide-induced endotoxemia in corn oil-preloaded mice causes an extended course of lung injury and repair and pulmonary fibrosis: A translational mouse model of acute respiratory distress syndrome

Acute respiratory distress syndrome (ARDS) is characterized by acute hypoxemia respiratory failure, bilateral pulmonary infiltrates, and pulmonary edema of non-cardiac origin. Effective treatments for ARDS patients may arise from experimental studies with translational mouse models of this disease that aim to delineate the mechanisms underlying the disease pathogenesis. Mouse models of ARDS, however, can be limited by their rapid progression from injured to recovery state, which is in contrast to the course of ARDS in humans. Furthermore, current mouse models of ARDS do not recapitulate certain prominent aspects of the pathogenesis of ARDS in humans. In this study, we developed an improved endotoxemic mouse model of ARDS resembling many features of clinical ARDS including extended courses of injury and recovery as well as development of fibrosis following i.p. injection of lipopolysaccharide (LPS) to corn oil-preloaded mice. Compared with mice receiving LPS alone, those receiving corn oil and LPS exhibited extended course of lung injury and repair that occurred over a period of >2 weeks instead of 3–5days. Importantly, LPS challenge of corn oil-preloaded mice resulted in pulmonary fibrosis during the repair phase as often seen in ARDS patients. In summary, this simple novel mouse model of ARDS could represent a valuable experimental tool to elucidate mechanisms that regulate lung injury and repair in ARDS patients.