Miracle-dz/UniFAR-FTUs huggingface dataset:
Duodenal atresia in 17q12 microdeletion including HNF1B: A new associated malformation in this syndrome

Deletions of chromosome 17q12 [OMIM 614527] encompass a wide range of phenotypes, including renal cysts, diabetes mellitus, pancreatic structural abnormalities, genital tract anomalies, developmental delay, learning difficulties, and more recently, autism spectrum disorder and schizophrenia. To date, gastrointestinal malformations have not been fully characterized in this syndrome. In this case report, we describe a four‐year‐old girl with a 17q12 microdeletion who was born with duodenal atresia, bilateral renal cysts, left kidney dysplasia, a midline cystic structure at the conus medullaris, and dysmorphic features. Both the patient and her affected father were found to have a deletion of 17q12, which encompasses the HNF1B (hepatocyte nuclear factor beta). It is hypothesized that HNF1B may play a role in intestinal differentiation and development. Our clinical report further expands the pre‐and post‐natal presentation of this rare microdeletion syndrome. © 2014 Wiley Periodicals, Inc.
Clinical effectiveness of influenza vaccination in persons younger than 65 years with high-risk medical conditions: the PRISMA study.

BACKGROUND Influenza vaccination has consistently been shown to prevent all-cause death and hospitalizations during influenza epidemics among seniors. However, such benefits have not yet been demonstrated among younger individuals with high-risk medical conditions. In the present study, we evaluated the effectiveness of influenza vaccine in persons recommended for vaccination of any age during an epidemic. METHODS We conducted a case-control study during the 1999-2000 influenza A epidemic nested in a cohort of 75,227 primary care patients. End points were all-cause mortality and episodes of hospitalizations or general practitioner (GP) visits for influenza, pneumonia, other acute respiratory disease, acute otitis media, myocardial infarction, heart failure, and stroke. The effectiveness of vaccination was evaluated by means of logistic regression analysis with adjustments for age, sex, prior health care use, medication use, and comorbid conditions. RESULTS Among high-risk children and adolescents younger than 18 years (n=5933; 8% of the study population), 1 death, 3 hospitalizations for pneumonia, and 160 GP visits occurred. After adjustments, 43% (95% confidence interval [CI], 10%-64%) of visits were prevented. Among high-risk adults aged between 18 and 64 years (n=24 928; 33% of the study population), 47 deaths, 23 hospitalizations, and 363 GP visits occurred. After adjustments, vaccination prevented 78% of deaths (95% CI, 39%-92%), 87% of hospitalizations (95% CI, 39%-97%), and 26% of GP visits (95% CI, 7%-47%). Among elderly persons (n=44 366; 59% of the study population), 272 deaths and 166 hospitalizations occurred, and after adjustments the vaccine prevented these end points by 50% (95% CI, 23%-68%) and 48% (95% CI, 7%-71%), respectively. CONCLUSION Persons with high-risk medical conditions of any age can substantially benefit from annual influenza vaccination during an epidemic.
Calibration and validation of homeostasis parameters estimates produced by a DSP embedded in a wheelchair

Ballistocardiogram, capacitive electrocardiogram, and photoplethysmogram (PPG) sensors were embedded in a wheelchair together with a digital signal processor (DSP) with Wi-Fi capabilities. This setup allows monitoring of some homeostasis parameters of the wheelchair user, namely heart rate (HR), pulse arrival and transit times, and oxygen saturation (SpO2). Ten subjects tested the wheelchair capabilities. SpO2 and HR obtained from the PPG of reference equipment were also recorded for comparative analysis. This paper reports the results of the algorithms developed for HR estimation, for all the signals, and for SpO2 from the PPG. From the data of the ten subjects the algorithms had their parameters calibrated, and presented an average RMS error of 1.903% for SpO2, with the best value being 0.024%. The most unstable signal is the BCG from where the global calibration provides an HR estimate with an average 4.73 bpm error. The algorithms created were confirmed valid, and the signals from the hardware setup can be used to provide estimates with significant accuracy in heart rate estimation, but needing personalized calibration in the SpO2 case.
An open-label assessment of aripiprazole in the treatment of PTSD.

BACKGROUND Recent studies suggest that atypical antipsychotics may be effective augmentation strategies for the treatment of posttraumatic stress disorder (PTSD). Limited data were available on the newest agent, aripiprazole, so we aimed to evaluate its efficacy and tolerability in the treatment of PTSD. METHODS A 12-week, prospective, open-label, flexible-dose, adjunctive trial of aripiprazole was conducted in military veterans meeting DSM-IV criteria for PTSD. Concomitant psychiatric medications continued unchanged, except for other neuroleptics which were not allowed. The primary outcome variable was change from baseline in the Clinician Administered PTSD scale (CAPS). RESULTS All 17 subjects were male, with an average age of 57 years. Total CAPS scores decreased from 78.2 (SD = 17.8) at baseline to 60.0 (23.5) at study end (p = 0.002). Re-experiencing (CAPS-B) and avoidance/numbing symptoms (CAPS-C) were significantly improved, and trend level reductions were observed in hyperarousal symptoms (CAPS-D). Fifty-three percent (9/17) were considered responders, as defined by a decrease in total CAPS scores of at least 20%. Reductions in the Positive and Negative Symptom Scale (PANSS) total score and positive and general psychopathology subscale scores were statistically significant. The final average dose of aripiprazole was 13.06 (SD = 6.45) mg daily. Nine patients discontinued because of side effects. The most common adverse events consisted of gastro-intestinal disturbances, sedation, and psychomotor activation. Tolerability was improved with lower starting doses (e.g., 5 mg daily) and slow titration. CONCLUSIONS Addition of aripiprazole to ongoing treatment further reduced PTSD symptoms in military veterans with severe PTSD. These preliminary findings await confirmation in randomized, controlled trials.
ERK1 is important for Th2 differentiation and development of experimental asthma

The ERK1/2 signaling pathway regulates a variety of T‐cell functions. We observed dynamic changes in the expression of ERK1/2 during T‐helper cell differentiation. Specifically, the expression of ERK1/2 was decreased and increased by IL‐12 and IL‐4, respectively. To address this subject further, we examined the specific role of ERK1 in Th2 differentiation and development of experimental asthma using ERK1‐/‐ mice. ERK1‐/‐ mice were unable to mount airway inflammation and hyperreactivity in two different models of asthma, acute and chronic. ERK1‐/‐mice had reduced expression of Th2 cytokines IL‐4 and IL‐5 but not IL17A or IFN‐γ. They had reduced levels of allergen‐specific IgE and blood eosinophils. T cells from immunized ERK1‐/‐ mice manifested reduced proliferation in response to the sensitizing allergen. ERK1‐/‐ T cells had reduced and short‐lived expression of JunB following TCR stimulation, which likely contributed to their impaired Th2 differentiation. Immunized ERK1‐/‐ mice showed reduced numbers of CD44 high CD4 T cells in the spleen. In vitro studies demonstrated that Th2 but not Th1 cells from ERK1 ‐/‐ mice had reduced numbers of CD44 high cells. Finally, CD4 T cells form ERK1 ‐/‐ mice expressed higher levels of BIM under growth factor‐deprived conditions and reduced Mcl‐1 on stimulation. As a result, the survival of CD4 T cells, especially CD44high Th2 cells, was much reduced in ERK1‐/‐ mice. We conclude that ERK1 plays a nonredundant role in Th2 differentiation and development of experimental asthma. ERK1 controls Th2 differentiation and survival through its effect on JunB and BIM, respectively. —Goplen, N. , Karim, Z. , Guo, L. , Zhuang, Y. , Huang, H. , Gorska, M. M. , Gelfand, E. , Pagés, G. , Pouysségur, J., Alam, R. ERK1 is important for Th2 differentiation and development of experimental asthma. FASEB J. 26, 1934‐1945 (2012). www.fasebj. org
Detection of Internal Waves Using Multi-Aspect Processing in Synthetic Aperture Sonar

Refractive effects may cause artifacts in synthetic aperture sonar (SAS) imagery and interferometry processing. These effects may appear as natural seabed features in the data products, and are difficult to detect as water column induced features. We propose to use a technique based on multi-aspect processing applied to the SAS data to detect the water column induced features. The technique has been tested and demonstrated on real data from an interferometric SAS collected by a HUGIN autonomous underwater vehicle from the ARISE’12 trials conducted by NATO research vessel Alliance owned and operated by Centre for Maritime Research and Experimentation.
Subregional 6-[ 18 F ] fluoro-Lm-tyrosine Uptake in the Striatum in Parkinson ’ s Disease

Background: In idiopathic Parkinson’s disease (PD) the clinical features are heterogeneous and include different predominant symptoms. The aim of the present study was to determine the relationship between subregional aromatic l-amino acid decarboxylase (AADC) activity in the striatum and the cardinal motor symptoms of PD using high-resolution positron emission tomography (PET) with an AADC tracer, 6-[F]fluoro-L-m-tyrosine (FMT). Methods: We assessed 101 patients with PD and 19 healthy volunteers. PD was diagnosed based on the UK Brain Bank criteria by two experts on movement disorders. Motor symptoms were measured with the Unified Parkinson’s Disease Rating Scale (UPDRS). FMT uptake in the subregions of the striatum was analyzed using semi-automated software for region-of-interest demarcation on co-registered magnetic resonance images. Results: In all PD patients, FMT uptake was decreased in the posterior putamen regardless of predominant motor symptoms and disease duration. Smaller uptake values were found in the putamen contralateral to the side with more affected limbs. The severity of bradykinesia, rigidity, and axial symptoms was correlated with the decrease of FMT uptake in the putamen, particularly in the anterior part. No significant correlation was observed between tremors and FMT uptake. Conclusions: Decrease of FMT uptake in the posterior putamen appears to be most sensitive in mild PD and uptake in the anterior putamen may reflect the severity of main motor symptoms, except for tremor.
Multislice CT Angiography Through an Implantable Catheter and Port System: Early Experience in Detection of Vascular Complications During Hepatic Arterial Infusion Chemotherapy

Objective The purpose of this study was to evaluate the use of multislice CT in the evaluation of vascular patency in patients during hepatic arterial infusion chemotherapy of liver tumors. Materials and Methods Thirty-three patients were prospectively examined by CT angiography through the indwelling catheter and port system. Visibility of hepatic arteries and vascular patency were graded 0 to 3 and were compared with digital subtraction angiography (DSA). Results Average visualization scores of CT angiography and DSA were 1.7 and 2.5, respectively, in common hepatic artery (CHA) and proper hepatic artery (PHA), 2.5 and 2.3 in right hepatic artery (RHA), 2.6 and 2.6 in left hepatic artery (LHA), 2.3 and 2.2 in segmental RHA, and 2.1 and 2.0 in segmental LHA. Stenoses were found in proximal hepatic arteries in 9 on CT angiography and 13 on DSA. Stenoses were found in branches of the hepatic artery in 21 on CT angiography and 16 on DSA. Conclusion The authors' results indicate that multislice CT angiography of the hepatic arteries is equivalent to DSA and may demonstrate vascular complications of hepatic arterial infusion chemotherapy.
Analysis of neuron differentiation in the central nervous system by tritiated thymidine autoradiography

Recently H3-thymidine autoradiographic technique has been introduced by Uzman (’60), Miale et al. (’61), Sidman (’61) and DeLong et al. (’62) to study the histo-genesis of cerebellum, retina and superior colliculus of mice. The principle of the analytical studies using the H3-thymidine autoradiography is as follows
Intramuscular administration of ceftiofur sodium versus intramammary infusion of penicillin/novobiocin for treatment of Streptococcus agalactiae mastitis in dairy cows.

OBJECTIVE To determine the efficacy of intramuscular administration of ceftiofur sodium as treatment for intramammary infections attributable to Streptococcus agalactiae, compared with that for a standard treatment of intramammary infusion of penicillin/novobiocin. DESIGN Prospective, randomized, controlled trial. ANIMALS 72 lactating Holstein cows with intramammary infections caused by S agalactiae from 5 commercial dairies in Michigan. PROCEDURE In 36 of 72 infected cows, ceftiofur was administered (2.2 mg/kg of body weight, IM, q 24 h) for 5 days; 150 mg of novobiocin and 100,000 U of procaine penicillin G was infused daily into each mammary gland of the other 36 cows for 2 days. Milk samples were collected aseptically at approximately 4 and 8 weeks after initial treatment. If cows were determined to be infected at 4 weeks after initial treatment, the treatment was repeated. RESULTS The cure rate at 4 weeks (91.7%) and at 8 weeks (96.8%) after initial treatment for the penicillin/novobiocin-treated cows was significantly (P < 0.0001) higher, compared with that of the ceftiofur-treated cows (2.8 and 9.1%, respectively). Somatic cell counts were significantly (P < 0.0001) lower in the penicillin/novobiocin-treated group after treatment. CLINICAL IMPLICATIONS Intramuscular administration of ceftiofur is not efficacious as a treatment to eliminate intramammary infections caused by S agalactiae and should not be used to reduce the prevalence of this organism in dairy herds.
Idiopathic Coccygodynia Lateral Roentgenograms in the Sitting Position and Coccygeal Discography

Study Design The authors hypothesized that the source of coccydynia was a lesion of the coccygeal disc. Objectives This study analyzed the motion of the painful coccyx in the sitting position as compared with the lateral decubitus in a patient and a control group and reported the first results of coccygeal discography (dynamic study). Summary of Background Data Coccycynia are usually attributed to soft tissue injuries or psychologic disturbances. No previous study has assessed the coccygeal discs as a source of pain. Methods Fifty-one patients with coccydynia and 51 controls sustained a dynamic study. Coccygeal mobility was documented by superimposing graph paper with a double reading. The accurancy of the measurement was ±2.6° intra- and interobserver variations 15,3 and 12.5%. This dynamic study was followed by coccygeal discography in the patient group. Results An abnormal motion (luxation or hypermobility) of the coccyx that occured in the sitting position and spontaneously was reducible when placed in the lateral decubitus position was found in 25 patients. Such lesions could be responsible for the pain because no similar findings were seen in the controls and cocygeal discography was positive in these cases. Of the 26 patients with a normal dynamic study, coccygeal discography, using a combination of provocation and anesthetization, was positive in 15 of 21. Conclusions Common coccygeal pain could come from the coccygeal disc in approximately 70% of cases.
Ideomotor Apraxia: Behavioral Dimensions and Neuroanatomical Basis

Ideomotor apraxia, disordered movement execution to command, commonly follows left-hemisphere damage, implying left-hemisphere dominance for certain kinds of movements. To delineate this dominance we used different command modalities to elicit meaningful movements and tested imitation of nonsense movements. Twenty-seven patients with unilateral hemispheric stroke and 10 age-matched controls were evaluated. Patients with left-hemisphere damage performed both meaningful and nonsense movements poorer than the other study groups; thus, the meaningfulness of the movements is irrelevant for the left-hemisphere motor dominance. The performance varied, however, with the command modality and movement type. Based on this and earlier studies we posit that the left-hemisphere motor dominance is determined by the artificiality of the test situation (it concerns movements performed to command and out of the natural context) and increased spatial and temporal complexity of the demanded movements. No association between the lesion locus within the left hemisphere and the severity of the ideomotor apraxia was found.
Location of the gltP gene on the physical map of Escherichia coli K-12

Recently, a gene (gltP) that encodes the proton-dependent glutamate-aspartate carrier protein of Escherichia coli was cloned and sequenced (3, 5, 6). Evidence for the function of gltP is as follows. The open reading frame encodes a protein of 437 amino acids (molecular mass, 47.2 kDa) that is hydrophobic in nature and contains 12 possible membrane-spanning a-helical regions (5). A substantial proportion of GltP expressed from a multiple-copy-number plasmid was located in the membrane fraction of the cells (6). Further, a strain of E. coli (BK9MDG) that harboredgltP on a multiple-copy-number plasmid had 5.5-fold-higher uptake of L-gluta-mate and 4.5-fold-higher uptake of aspartate than those of BK9MDG without the plasmid (6). Uptake was insensitive to the concentration of Na+ and was inhibited by L-cysteate and f-hydroxyaspartate but not by a-methylglutamate. A 1.6-kb fragment of DNA containing gltP was removed from pBW1 (6) by digestion with MluI and NsiI, purified in low-melting-point agarose gels and used to prepare a digox- igenin-labelled probe (digoxigenin labelling and detection kit; catalog no. 1175033; Boehringer-Mannheim). This probe was hybridized to the E. coli Gene Mapping Membrane
Radioimmunoassay for the major structural protein of mason‐pfizer monkey virus: Attempts to detect the presence of antigen or antibody in humans

The 25,000 dalton protein of Mason‐Pfizer monkey virus (MPMV) was isolated by gel filtration chromatography. In agreement with results from other laboratories, antisera to type‐C and the non‐type‐C bovine leukemia and equine infectious anemia viruses did not precipitate 125I‐labelled MPMV p25. In addition, these viruses did not cross‐react in a competition radioimmunoassay for MPMV p25. Twenty‐one human tissues (15 breast carcinomas, 2 normal breasts, 3 acute myelogenous leukemias and 1 sarcoma) were fractionated by detergent solubilization, ammonium sulfate precipitation, and DE‐52 anion exchange chromatography. These methods were shown to be highly effective for purification of MPMV p25. Under assay conditions which minimized incubation damage to the 125I‐MPMV p25, all tissues failed to react in the competition radioimmunoassay (RIAT). Two hundred and two human sera or plasma specimens, including those from patients with breast cancer and 33 age‐matched controls, from 50 patients with hematologic malignancies, from 12 patients with amyotrophic lateral sclerosis, and from 14 patients with systemic lupus erythematosis, were examined for antibodies to MPMV p25. With the exception of two multiple myeloma plasmas which produced artifactual false positive reactions based on hypergammaglobulinemia, a known complication of salt precipitation radioimmunoassays, the remainder of the specimens were negative for evidence of MPMV p25 antibodies.
A generalization of edge-coloring in graphs

Bounds are given on the number of colors required to color the edges of a graph (multigraph) such that each color appears at each vertex v at most m(ν) times. The known results and proofs generalize in natural ways. Certain new edge-coloring problems, which have no counterparts when m(ν) = 1 for all ν ϵ V, are studied.
p‐cresylsulfate and indoxyl sulfate level at different stages of chronic kidney disease

Indoxyl sulfate and p‐cresylsulfate was associated with poor clinical outcome of uremia. We explored the relationship between the two toxins and renal function in chronic kidney disease (CKD) patients. This study enrolled 103 stable CKD patients (stage 3–5 and hemodialysis (HD) patients). Serum levels of indoxyl sulfate and p‐cresylsulfate were measured using ultra performance liquid chromatography. General laboratory results and patient background were also checked. Patients with advanced CKD had higher serum indoxyl sulfate, p‐cresylsulfate based on ANOVA test. There were significant correlation between indoxyl sulfate and p‐cresylsulfate and serum creatinine after multivariate regression analysis (B=3.59, P<0.01; B=0.93, P=0.04, respectively). In addition, there was a positive correlation between indoxyl sulfate and p‐cresylsulfate level (r=0.61, P<0.01). Indoxyl sulfate and p‐cresylsulfate level increased gradually while renal function declined and reached the peak at the stage of HD. Serum indoxyl sulfate level was closely associated with p‐cresylsulfate level in CKD patients. J. Clin. Lab. Anal. 25:191–197, 2011. © 2011 Wiley‐Liss, Inc.
Differential neural activity in the human temporal lobe evoked by faces of family members and friends

In 6 patients, depth electrodes revealed differential evoked responses to familiar versus novel faces. These differential responses were obtained in the amygdala, hippocampus, and temporal neocortex but not in the dorsolateral frontal or cingulate cortex. The limbic and temporal structures that differentiated novel from familiar faces did not respond differentially to variations in luminance. Limbic structures and temporal cortex thus appear to participate in face recognition and in encoding the familiarity of visual experiences.
Three-phase linear state estimation using Phasor Measurements

Given the ability of the Phasor Measurement Unit (PMU) to directly measure the system state and the increasing implementation of PMUs across the electric power industry, a natural application of PMUs to state estimation techniques would be one that employed the exclusive use of PMU data. Virginia Electric and Power Company aims to implement a three-phase linear tracking state estimator such as this on their 500kV network as part of a DOE demonstration project started in 2009. This paper represents a summary of some the work completed during this project and presents some practical learnings from the implementation.
Identification of amino acid residues critical for infection with ecotropic murine leukemia retrovirus

The murine cationic amino acid transporter is also the receptor for murine ecotropic leukemia retrovirus (MuLV-E). Recently, we have cloned a human gene (H13) homologous to the murine ecotropic retroviral receptor (ERR). Although the human homolog is very similar to murine ERR in sequence (87.6% amino acid identity) and structure (14 transmembrane-spanning domains), the human protein fails to function as a receptor for MuLV-E. To identify amino acid residues critical for MuLV-E infection, we took advantage of this species difference and substituted human H13 and murine ERR amino acid residues. Mouse-human chimeric receptor molecules were generated by taking advantage of using common restriction sites. These studies demonstrated that extracellular domains 3 and/or 4 contain the critical amino acid residues. Oligonucleotide-directed mutagenesis was then used to create 13 individual ERR mutants containing one or two amino acids substitutions or insertions within these two extracellular domains. Substitution of as few as one amino acid residue (Tyr) at position 235 in ERR with the corresponding H13 amino acid residue Pro abrogates the ability to function as a receptor for MuLV-E infection. Conversely, substitution of just two amino acid residues at positions 240 and 242 or 242 and 244 in H13 with the corresponding amino acid residues in ERR endows H13 with the ability to function as the receptor. This observation can be utilized to significantly improve the safety of retrovirus-mediated gene therapy in humans.