Miracle-dz/UniFAR-FTUs huggingface dataset:
Genotype- phenotype correlation in trisomy X: a retrospective study of a selected group of 36 patients and review of literature.

UNLABELLED Trisomy X (47,XXX) is a gonosomal aneuploidy characterized by the presence of an extra X chromosome in a female person. Usually the diagnosis is established made postnatally by chromosome analysis in patients with suggestive clinical signs. Clinical signs vary by age. In prepubertal patients have a growth retardation associated with uncharacteristic facial dysmorphism, mild mental retardation with behavioral disorders, plus clinical signs of ovarian dysgenesis, postpubertal. AIM We analyzed retrospectively the genotype - phenotype correlations for a selected group of 36 patients diagnosed with trisomy X (homogeneous or mosaic) by cytogenetic methods (X chromatin and karyotype). MATERIAL AND METHODS Analysis of the clinical data of 36 patients diagnosed with trisomy X and correlation with the results of X chromatin and karyotype. RESULTS Clinical signs detected in patients with homogeneous trisomy X 47,XXX (22.22%), mosaic 46,XX/47,XXX (16.66%) or 47,XXX/48,XXXX (5.55%) were prepubertal, growth retardation associated with dysmorphic facial (upslanted palpebral fissure, epichantus, thin lips) and postpubertal, signs of ovarian dysgenesis (secondary amenorrhea, early menopause). The phenotype of patients with different gonosomal mosaic corresponding to Turner syndrome, incorporating a cell line with trisomy X (55.55%) was variable, correlated with the type of chromosomal abnormalities detected. CONCLUSIONS The results of our study are similar to those obtained in other studies and emphasizes that phenotypic variability of patients with trisomy X feature makes it difficult to genotype - phenotype correlations.
Issues related to renal artery angioplasty and stenting

Renal artery stenosis may play a significant role in the pathogenesis of secondary hypertension, renal dysfunction, and flash pulmonary edema. Currently correction of renal arterial inflow stenosis is reserved for resistant hypertension patients who have failed maximal medical therapy, have worsening renal function and/or unexplained proximal congestive failure. With the recent advances in minimally invasive percutaneous stent placement techniques, open surgical revascularization has been largely replaced by renal artery stenting. The potential benefit of revascularization seemed intuitive; however, the initial enthusiasm and rise in the number of percutaneous interventions have been tempered by many subsequent negative randomized clinical trials that failed to prove the proposed benefits of the percutaneous intervention. The negative randomized trial results have fallen under scrutiny due to trial design concerns and inconsistent outcomes of these studies compared to pivotal trials undertaken under US Food and Drug Administration scrutiny. Treatment of atherosclerotic renal artery occlusive disease has become one of the most debatable topics in the field of vascular disease. The results from recent randomized clinical trials of renal artery stenting have basically limited the utilization of the procedure in many centers, but not every clinical scenario was covered in those trials. There are potential areas for improvement focusing mainly on procedural details and patient selection with respect to catheter based treatment of atherosclerotic renal artery stenosis. We believe, limiting patient selection, enrollment criteria and outcomes measured functioned to reduce the benefit of renal artery stenosis stenting by not enrolling patients likely to benefit. Future studies incorporating potential procedural improvements and that include patients more likely to benefit from renal stenting than were included in ASTRAL and CORAL are needed to more carefully examine specific patient subgroups so that “the baby is not thrown out with the bath water. ” We also discuss several other concerns related to renal artery stenting which include diagnostic, procedure, indication, and reimbursement issues.
Myocyte Autophagy in Heart Disease: Friend or Foe?

In the setting of hemodynamic stress, such as occurs in hypertension or following myocardial infarction, the heart undergoes a compensatory hypertrophic growth response. Left unchecked, this hypertrophic response triggers myocyte death, ventricular dilation, diminished contractile performance, and a clinical syndrome of heart failure. For some years, autophagy has been implicated in heart failure. More recently, mechanistic studies have emerged which provide new insights into the molecular underpinnings of hemodynamic stress-induced cardiomyocyte autophagy. Further, these studies have begun to provide clues as to whether cardiomyocyte autophagy is adaptive, mitigating disease pathogenesis, or maladaptive, contributing to disease progression. Here, we discuss recent studies that both answer questions and pose new ones. Addendum to: Cardiac Autophagy is a Maladaptive Response to Hemodynamic Stress H. Zhu, P. Tannous, J.L. Johnstone, Y. Kong, J.M. Shelton, J.A. Richardson, V. Le, B. Levine, B.A. Rothermel and J.A. Hill J Clin Invest 2007;117:1782-93
China's crop productivity and soil carbon storage as influenced by multifactor global change

Much concern has been raised about how multifactor global change has affected food security and carbon sequestration capacity in China. By using a process‐based ecosystem model, the Dynamic Land Ecosystem Model (DLEM), in conjunction with the newly developed driving information on multiple environmental factors (climate, atmospheric CO2, tropospheric ozone, nitrogen deposition, and land cover/land use change), we quantified spatial and temporal patterns of net primary production (NPP) and soil organic carbon storage (SOC) across China's croplands during 1980–2005 and investigated the underlying mechanisms. Simulated results showed that both crop NPP and SOC increased from 1980 to 2005, and the highest annual NPP occurred in the Southeast (SE) region (0.32 Pg C yr−1, 35.4% of the total NPP) whereas the largest annual SOC (2.29 Pg C yr−1, 35.4% of the total SOC) was found in the Northeast (NE) region. Land management practices, particularly nitrogen fertilizer application, appear to be the most important factor in stimulating increase in NPP and SOC. However, tropospheric ozone pollution and climate change led to NPP reduction and SOC loss. Our results suggest that China's crop productivity and soil carbon storage could be enhanced through minimizing tropospheric ozone pollution and improving nitrogen fertilizer use efficiency.
Two-sided boundary stabilization of two linear hyperbolic PDEs in minimum time

We solve the problem of stabilizing two coupled linear hyperbolic PDEs using actuation at both boundary of the spatial domain in minimum time. We design a novel Fredholm transformation similarly to backstepping approaches. This yields an explicit full-state feedback law that achieves the theoretical lower bound for convergence time to zero.
N‐terminal pro‐B‐type natriuretic peptide‐ratio predicts mortality after transcatheter aortic valve replacement

We studied the prognostic value of plasma N‐terminal pro‐brain natriuretic peptide (NT‐proBNP)‐ratio, which is independent of individual cutoff levels, in predicting mortality in patients undergoing transcatheter aortic valve replacement (TAVR). Background: Elevated levels of natriuretic peptides are associated with adverse outcomes across a wide spectrum of cardiovascular diseases. However, cutoff values differ according to age, gender, and body weight. Methods: 244 TAVR patients with preprocedural NT‐proBNP levels were analyzed, and the predictive value of NT‐proBNP‐ratio (measured NT‐proBNP/maximal normal NT‐proBNP values specific for age and gender) on all‐cause‐mortality was assessed in a multivariate model. Results: Median NT‐proBNP‐ratio was 4.2 [IQR 1.8–9.7]. All‐cause mortality at 30 days was 3.4% in patients with less than median NT‐proBNP‐ratio, and 14.0% in patients with more than median NT‐proBNP‐ratio (P = 0.02). All‐cause mortality at 1 year was 8.5% in patients with less than median NT‐proBNP‐ratio, and 32.1% in those with more than median NT‐proBNP‐ratio (P = 0.001). Cumulative survival declined with increasing quartiles of NT‐proBNP‐ratio (log rank P = 0.001). All patients with a NT‐proBNP‐ratio below 1.5 survived at 1‐year follow‐up. In ROC analysis, NT‐proBNP‐ratio significantly predicted 30‐day (AUC = 0.72; P = 0.002) and 1‐year all‐cause mortality (AUC = 0.72; P < 0.001). By multivariate Cox regression analysis, NT‐proBNP‐ratio, chronic obstructive pulmonary disease, and serum creatinine were the only independent predictors of all‐cause mortality. Conclusions: Elevated NT‐proBNP‐ratio was associated with increased short‐ and long‐term mortality after TAVR, and independently predicted all‐cause mortality. NT‐proBNP‐ratio should be considered in the risk stratification of patients undergoing TAVR. © 2015 Wiley Periodicals, Inc.
Phosphonopeptides as Antibacterial Agents: Rationale, Chemistry, and Structure-Activity Relationships

Peptide mimetics with C-terminal residues simulating natural amino acids have been designed as inhibitors of bacterial cell wall biosynthesis. The phosphonopeptide series consisting of various l and d residues of natural amino acids combined with 1-aminoalkyl (and aryl-alkyl-) phosphonic acid residues had the most interesting antibacterial properties when the C-terminal residue was l-1-aminoethylphosphonic acid. The in vitro antibacterial activities of representative phosphonodi- to phosphonohexapeptides were investigated. The antibacterial action of the active compounds has been explained in terms of transport into the bacterial cell and intracellular release of the alanine mimetic, which interferes with the biosynthesis of the peptidoglycan of the bacterial cell wall.
Basic Chemistry and Process Conditions for Reaction Flavours with Particular Focus on Maillard‐Type Reactions

Maillard reaction technology is used by the flavour and food industry for the production of process/reaction flavours or generating flavour upon food processing (in-process flavour generation). Process flavours are complex building blocks that provide similar aroma and taste properties to those found in thermally treated foodstuffs such as meat, chocolate, coffee, caramel, popcorn and bread. The Maillard reaction between a reducing sugar and a food-grade nitrogen source is the principal underlying reaction, which is responsible for flavour and colour development. However, Maillard-type reactions may also give rise to undesirable molecules that need to be limited using mitigation concepts. This review provides a summary of general aspects of the Maillard reaction in flavour formation in view of reinforcing distinct desirable flavour notes. An overview of important aroma compounds of thermally treated foodstuffs and process flavours is given. In addition, the patent literature and other publications relating to reaction flavour production and their process conditions are discussed. This chapter focuses on Maillard-type reactions and only partially deals with other reactions occurring during process flavour preparation (e.g. lipid oxidation).
Influence of A.C. electric field on plant growth

The influence of AC electric field on the growth of thale cress was studied. The seeds of thale cress were cultivated under two circumstances; one was under the AC 60Hz electric field of 2.5kV/m, and the other was under no electric field. They were grown for four or eight days, and the seed germination rate was counted every day, and stem length was measured on the fourth and the eighth day. We have confirmed the following things; (1) AC electric field accelerates the seed germination of thale cress. (2) The AC electric field accelerates the stem growth of thale cress. These results are similar to the effects of DC electric field on plant growth, however, the effects of the AC field are smaller than those of DC field.
Application of Particle Swarm Optimization to Economic Dispatch Problem: Advantages and Disadvantages

This paper summarizes the state-of-art particle swarm optimization (PSO) applications for resolving the economic dispatch (ED) problem, which is considered as one of the complex problems to be tackled. The PSO techniques have drawn much attention from the power system community and been successfully applied in many complex optimization problems in power systems. This paper focuses on the application of PSO techniques to the ED problems and describes their advantages and disadvantages in resolving the ED problems
Antiviral effect of Phyllanthus nanus ethanolic extract against hepatitis B virus (HBV) by expression microarray analysis

Ethanolic extract of Phyllanthus nanus (P. nanus) treatment exhibited potent antiviral activity against Hepatitis B virus (HBV). The effects of these extracts on HBV in the HBV genome integrated cell lines—Alexander cells and HepG2 2.2. 15 cells were examined. Experimental results showed that the ethanolic extract of P. nanus produced suppressive effect on HBsAg secretion and HBsAg mRNA expression. The extract also inhibited HBV replication as measured by HBV DNA level in vitro. In addition, using a duck HBV (DHBV) primary culture model, the P. nanus ethanolic extract suppressed viral replication of DHBV in DHBV infected primary duck hepatocytes. The gene expression pattern in Alexander cells that had been treated with the ethanolic extract of P. nanus was also revealed by microarray techniques. The microarray results indicated that there was up‐regulation of expression of several genes, including annexin A7 (Axn7). The subcellular localization of Axn7 and anti‐HBV effect of Axn7 over‐expression in Alexander cells were also investigated. Results showed that expression of Axn7–GFP fusion protein are localized around the secretory vesicles and could cause a decrease in HBsAg secretion in Alexander cells. Axn7 protein might play an important role in the medicinal effect of the active principle(s) of P. nanus. J. Cell. Biochem. 97: 795–812, 2006. © 2005 Wiley‐Liss, Inc.
Accounting for Evil and Cruelty: Is to Explain to Condone?

Analysts of evil and violence express the concern that to explain harmdoing may result in a condoning attitude toward perpetrators. An examination of research relevant to this hypothesis suggests that there are a variety of cognitive and affective processes that may produce a relatively condoning attitude toward perpetrators as a result of explaining their actions. Evidence from 3 exploratory studies supported the exonerating effects of explanations. Participants generating explicit explanations of harmdoing displayed a more condoning attitude toward perpetrators than did those forming impressions of perpetrators without first explaining the acts. Participants reading social-psychological explanations of harmdoing also judged the researcher to be more condoning of perpetrators than those reading dispositional explanations of the same behavior. Implications of these findings are discussed.
Intralesional and intravenous treatment of cutaneous B‐cell lymphomas with the monoclonal anti‐CD20 antibody rituximab: report and follow‐up of eight cases

Background Rituximab (MabThera®; Roche, Basel, Switzerland; an anti‐CD20 chimeric monoclonal antibody) has been shown to have significant activity in nodal B‐cell lymphomas, with few associated adverse effects. Its efficacy and safety were first demonstrated in the treatment of systemic B‐cell lymphomas. Intravenous and subsequently intralesional administration of rituximab have also been reported to be effective and well tolerated in cutaneous B‐cell lymphoma (CBCL). The comparative efficacy of intravenous vs. intralesional rituximab in CBCL is not known.
Microbial Factor-Mediated Development in a Host-Bacterial Mutualism

Tracheal cytotoxin (TCT), a fragment of the bacterial surface molecule peptidoglycan (PGN), is the factor responsible for the extensive tissue damage characteristic of whooping cough and gonorrhea infections. Here, we report that Vibrio fischeri also releases TCT, which acts in synergy with lipopolysaccharide (LPS) to trigger tissue development in its mutualistic symbiosis with the squid Euprymna scolopes. As components of PGN and LPS have commonly been linked with pathogenesis in animals, these findings demonstrate that host interpretation of these bacterial signal molecules is context dependent. Therefore, such differences in interpretation can lead to either inflammation and disease or to the establishment of a mutually beneficial animal-microbe association.
FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3–q28 in a male and his mother

FMR1, FMR2, and SLITRK2 Deletion Inside a Paracentric Inversion Involving Bands Xq27.3–q28 in a Male and His Mother Simona Cavani,* Paolo Prontera, Marina Grasso, Carmela Ardisia, Michela Malacarne, Cristina Gradassi, Massimiliano Cecconi, Amedea Mencarelli, Emilio Donti, and Mauro Pierluigi Laboratory of Genetics, Galliera Hospital, Genoa, Italy Medical Genetics Unit, University and Hospital of Perugia, Perugia, Italy
(1Z)-1-(2,4-Dichlorophenyl)ethan-1-one semicarbazone

In the title compound, C9H9Cl2N3O, the semicarbazone group is approximately planar, with an r.m. s deviation from the mean plane of 0.011 (2) Å. The dihedral angle between the least-squares planes through the semicarbazone group and the benzene ring is 38.76 (9)°. The crystal structure is further stabilized by N—H⋯O and C—H⋯O hydrogen bonding.
Lithium increases radiosensitivity by abrogating DNA repair in breast cancer spheroid culture.

BACKGROUND Lithium chloride (LiCl), a drug for bipolar disorder, has antiproliferative and apoptotic effects on certain breast cancer cell lines. This study was conducted to determine the effect of LiCl on radiosensitivity in a human breast cancer cell line in monolayer culture and the more realistic tumor model, multicellular tumor spheroid. METHODS Monolayer and spheroid cells were treated with LiCl (20 mM) for 24 hours. The clonogenic assay was used to indicate changes in survival after x-ray radiation. The percentage of apoptotic cells was determined by acridine orange/ethidium bromide double staining. The amounts of DNA damage and repair after exposure to ionizing radiation were assessed by comet assay. Mre11 mRNA level was determined by RT-PCR. GSK-3β and β-catenin protein levels were measured by Western blotting. RESULTS Treatment with LiCl decreased surviving fraction at 2, 3 and 6 Gy doses of x-ray (P < 0.01). The sensitizer enhancement ratio was higher in spheroids than monolayer culture. LiCl also decreased DNA repair (P < 0.05) and Mre11 mRNA level (P < 0.01) in T47D cells. These decreases were more prominent in spheroids than monolayer culture. CONCLUSION Treatment of T47D cells with LiCl sensitized this breast cancer cell line to ionizing radiation in monolayer and especially in the tumor-like spheroid culture. This radiosensitization was attributed, in part, to decline in DNA repair. Decrease in Mre11 mRNA level upon LiCl treatment was suggested to be an important cause for the decreased DNA repair in T47D monolayer and spheroid cells.
A diabetes-specific enteral formula improves glycemic variability in patients with type 2 diabetes.

BACKGROUND Well-controlled studies have demonstrated that inpatient hyperglycemia is an indicator of poor clinical outcomes, but the use of diabetes-specific enteral formulas in hospitalized patients remains a topic of great debate. METHODS In two different protocols, postprandial glycemia and insulinemia were measured in 22 subjects with diabetes fed a diabetes-specific or standard formula (protocol 1). Continuous glucose monitoring was used to assess glucose levels in 12 enterally fed patients with diabetes receiving the standard formula followed by the diabetes-specific formula continuously for 5 days each (protocol 2). End points included postprandial glycemia and insulinemia, glycemic variability (mean amplitude of glycemic excursions [MAGE]), mean glucose, and insulin use. RESULTS In the postprandial response protocol, the diabetes-specific formula resulted in lower positive areas under the postprandial curve (P < 0.001) and peak glucose (P < 0.001) and insulin (P = 0.017) levels. In the protocol using continuous glucose monitoring, glycemic variability (as measured by MAGE) was lower with continuous administration of the diabetes-specific than the standard formula (64.6 +/- 6.8 mg/dL vs. 110.6 +/-15.3 mg/dL, P = 0.003). Also, administration of the diabetes-specific formula resulted in lower mean glucose concentrations during feeding (171.1 +/- 16.1 vs. 202.1 +/- 17.4 mg/dL, P = 0.024) and insulin requirements (7.8 +/- 2.3 vs. 10.9 +/- 3.3 units/day, P = 0.039) than the standard formula. CONCLUSIONS Relative to the standard formula, the diabetes-specific formula reduced postprandial glycemia, mean glucose, glycemic variability, and short-acting insulin requirements. These results suggest potential clinical usefulness of a diabetes-specific enteral formula for minimizing glycemic excursions in hospitalized patients.
Personality predictors of outcome for adolescents hospitalized for suicidal ideation.

OBJECTIVE Recent cross-sectional studies of adolescents have noted an association between the personality traits of perfectionism and self-criticism and suicidal ideation. The present study was undertaken to examine the relationship between personality dimensions and the outcome of treatment of adolescents hospitalized for suicidal ideation or behavior. METHOD The study group was composed of 78 adolescents who were admitted to an adolescent psychiatric inpatient unit for suicidal ideation or attempts. Subjects completed measures of self-criticism, interpersonal dependency, self-oriented perfectionism, and socially prescribed perfectionism as well as the broad, higher-order trait neuroticism. Depression symptoms, hopelessness, and suicidal ideation were assessed at the beginning (time 1) and end (time 2) of their inpatient treatment. Readmissions were identified by review of medical records 1 year after hospital discharge. RESULTS After controlling for baseline symptoms, neuroticism was associated with posttreatment depression and suicidal ideation. After controlling for time 1 symptoms and neuroticism in multiple regression analyses, self-criticism was associated with post-treatment hopelessness and depression. Logistic regression analysis was used to identify predictors of readmission. Baseline suicidal ideation and neuroticism were predictive of psychiatric readmission within 1 year of discharge. CONCLUSIONS Neuroticism and self-criticism are potentially useful predictors of outcome in suicidal adolescents and can be assessed quickly and reliably. Therapeutic interventions directed at self-criticism (e.g., cognitive-behavioral therapy) may be useful in the treatment of suicidal adolescents.