Miracle-dz/UniFAR-FTUs huggingface dataset:
Homozygosity for Machado-Joseph disease gene enhances phenotypic severity.

Six months before she was seen by us, the referring physician started her on treatment with Sinemet-plus 125 mg (carbidopa 25 mg, levodopa 100 mg) four times a day with a dramatic initial benefit. Within a few months, however, she noticed wearing off problems with each dose lasting only three hours and the dose was increased to six Sinemet plus a day with one Sinemet CR (carbidopa 50 mg, levodopa 200 mg) at night. The differential diagnosis in this patient was between dopa responsive dystonia and young onset Parkinson's disease. The initial presentation with what seemed to be a spastic paraparesis and the positive family history suggested dopa responsive dystonia. Later evaluation suggested the possibility of young onset Parkinson's disease as she had developed wearing off dose responses early after initiation of treatment with Sinemet.5 By contrast, patients with dopa responsive dystonia are known to have a sustained long term benefit without complications on small doses of levodopa. For purposes of prognosis and further management it was important to distinguish between the two conditions. This was achieved with '8F-dopa PET which showed significantly reduced tracer uptake in the putamen (averaged side to side, Ki values using an occipital reference; patient caudate = 0-0080 (0-0108 ± 0-0017), patient putamen = 0-0034 (0 0099 ± 0-0011)). These findings were suggestive of a diagnosis of young onset Parkinson's disease.3 4 With a diagnosis of young onset Parkinson's disease established the drug therapy was modified by giving her levodopa sparing drugs such as amantadine, dopamine agonists, and anticholinergic drugs to avoid the levodopa induced motor fluctuations for as long as possible. This case shows the part functional imaging can play in selected cases and the prognostic and therapeutic implications made possible by this technique. K P BHATIA N TURJANSKI DJBROOKS C D MARSDEN University Department of Clinical Neurology, Institute of Neurology, Queen Square, and MRC Cyclotron Unit, Hammersmith Hospital, London UK D THRUSH Department of Neurology, Demriford Hospital, Plymouth, UK
Body-Size Estimation by Obese Subjects

The present aim was to explore the body-image perception of a group of 60 hospitalized obese subjects, aged between 25 and 50 years, undergoing a weight loss treatment and 60 normal-weight persons. The 1978 modified version of the Askevold perception test by Allamani, Marasco, Michele, and Morandi was given. This nonverbal test is aimed at evaluating subjects' perception of the dimensions of different parts of the body by exploiting their projection into space. Each body area (head, the thoracic area, the abdominal area, and the pelvic area) perceived by a subject was calculated using a specifically designed software program (AREA.BASIC2); the same program was used to calculate actual body area. After obtaining the percentage deviation index for each individual [(perceived area/real area) × 100], mean values were analyzed. Obese subjects significantly underestimated the four body areas, unlike the normal weight subjects who largely overestimated the abdominal and pelvic areas.
Paracrine Release of IL-12 Stimulates IFN-γ Production and Dramatically Enhances the Antigen-Specific T Cell Response after Vaccination with a Novel Peptide-Based Cancer Vaccine1

Interleukin-12 can act as a potent adjuvant for T cell vaccines, but its clinical use is limited by toxicity. Paracrine administration of IL-12 could significantly enhance the response to such vaccines without the toxicity associated with systemic administration. We have developed a novel vaccine delivery system (designated F2 gel matrix) composed of poly-N-acetyl glucosamine that has the dual properties of a sustained-release delivery system and a potent adjuvant. To test the efficacy of paracrine IL-12, we incorporated this cytokine into F2 gel matrix and monitored the response of OT-1 T cells in an adoptive transfer model. Recipient mice were vaccinated with F2 gel/SIINFEKL, F2 gel/SIINFEKL/IL-12 (paracrine IL-12), or F2 gel/SIINFEKL plus systemic IL-12 (systemic IL-12). Systemic levels of IL-12 were lower in paracrine IL-12-treated mice, suggesting that paracrine administration of IL-12 may be associated with less toxicity. However, paracrine administration of IL-12 was associated with an enhanced Ag-specific T cell proliferative and functional response. Furthermore, paracrine IL-12 promoted the generation of a stable, functional memory T cell population and was associated with protection from tumor challenge. To study the mechanisms underlying this enhanced response, wild-type and gene-deficient mice were used. The enhanced immune response was significantly reduced in IFN-γ−/− and IL-12Rβ2−/− recipient mice suggesting that the role of IL-12 is mediated, at least in part, by host cells. Collectively, the results support the potential of F2 gel matrix as a vaccine delivery system and suggest that sustained paracrine release of IL-12 has potential clinical application.
Reanalysis of twin studies suggests that diabetes is mainly genetic

EDITOR—Two twin studies of type 1 diabetes have reached opposite conclusions. In one, a population based cohort of Danish twins in which one or both cotwins had type 1 diabetes was studied for the presence of islet autoantibodies.1 High rates of autoantibody positivity were identified in twins with and without diabetes. Since positivity did not differ between the monozygotic and dizygotic twins it was suggested that a shared intrauterine or early postnatal environment might be more important than genetic factors. The second study found that the prevalence of islet autoantibodies was lower in initially unaffected dizygotic twins than monozygotic twins and did not differ from that found in unaffected non-twin siblings. The authors concluded that islet autoimmunity is determined predominantly …
Ablepharon-macrostomia syndrome: first report of familial occurrence.

Ablepharon-macrostomia syndrome (AMS) is a rare condition comprising severe deficiency of the anterior lamella of both eyelids, abnormal ears, macrostomia, anomalous genitalia, redundant skin, and absence of lanugo. There is no agreement about cause; some authors suggest autosomal recessive inheritance. We describe familial occurrence of AMS in a girl, sister of a previously reported patient. The father has facial anomalies that suggest autosomal dominant inheritance. Am. J. Med. Genet. 94:281-283, 2000.
An increase in primary care prescriptions of stop-smoking medication as a result of health insurance coverage in the Netherlands: population based study.

AIMS To examine the impact of two national tobacco control interventions in the past decade on (dispensed) prescriptions of stop-smoking medication. DESIGN Ecological study with interrupted time-series analyses of quarterly data points of three nation-wide representative databases. SETTING The Netherlands 2001-2012, with the introduction of the guideline for smoking cessation care for general practitioners (GP) in 2007 and full insurance coverage for smoking cessation treatment in 2011. PARTICIPANTS GPs, pharmacists and people in the general population aged 15 years and older. MEASUREMENTS Time-series plots were inspected visually and segmented regression analyses were performed to estimate the change in level and slope of (dispensed) prescriptions of stop-smoking medication and smoking prevalence in the years preceding and after the tobacco control interventions. FINDINGS No measurable effects of the GP guideline on (dispensed) prescriptions were observed. Shortly after the start of health insurance coverage, an estimated increase in primary care prescriptions of 6.3 per 1000 smokers [95% confidence interval (CI) = 2.9-9.8; P = 0.001] and 17.3 dispensed items per 1000 smokers (95% CI = 12.5-22.0; P < 0.000) was accompanied by a sudden drop in smoking prevalence of 2.9% (95% CI = 4.6-1.1; P = 0.002) in the first quarter of 2011. Immediately after the coverage abolition, smoking prevalence increased by 1.2% (95% CI = 0.5-2.8; P = 0.156) and dispensed prescription rates decreased with 21.6 per 1000 smokers (95% CI = 26.0-17.2; P < 0.000). CONCLUSIONS Full health insurance coverage for smoking cessation treatment in the Netherlands was accompanied by a significant increase in the number of (dispensed) prescriptions of stop-smoking medication and a decrease in smoking prevalence.
Comparison of Intralesional Triamcinolone Acetonide, 5-Fluorouracil, and Their Combination in Treatment of Keloids

BACKGROUND Despite the myriad options available, there is no universally accepted treatment for keloids. This study has compared intralesional triamcinolone acetonide, 5-fluorouracil, and their combination in treatment of keloids. METHODS In this randomized parallel group study, 60 patients were enrolled and randomly allocated to three groups. Patients received intralesional injections of triamcinolone acetonide (TAC) in Group TAC, 5-fluorouracil (5FU) in Group 5FU and a combination in Group T+F every 3 weeks till 24 weeks or till the keloid resolved. RESULTS There was a reduction in all parameters at every successive assessment in all three groups. Improvement in terms of height, vascularity and pliability was fastest with 5FU, TAC and T+F group, respectively, which was statistically significant. Decrease in pigmentation was significantly faster with T+F. Reduction in pruritus, however, was significantly faster with 5FU than the other groups, but the difference in reduction of pain among the three groups was not significant. Telangiectasias and skin atrophy were seen most commonly in TAC group, while skin ulceration was a common problem in 5FU group. CONCLUSION TAC, 5FU and their combination are all effective in keloid scars. A combination of TAC+5FU seems to offer the balanced benefit of faster and more efficacious response with lesser adverse effects when compared to individual drugs.
Learning in a Dynamic Information Management World

Increasingly modern organizations are confrontedby changes. Often these changes can be best characterized ascrises. Information is the key resource with which organizationscan get a better grip on these changes. Yet, information is alsorapidly changing. Information management has to be preparedto deal with issues arising around these changes. This article willshow that learning and adapting in such a dynamic context is fardifferent from the more traditional focus on transferringknowledge from teacher to student. The theory of Systemic Constellationshelps to better understand the dynamics of learning inthe increasingly dynamic environments.
Emphysematous cholecystitis in a young male without predisposing factors

AbstractThis report describes the diagnosis and treatment for Emphysematous cholecystitis (EC) without predisposing factors, and reviews the current literature.A 49-year-old male without predisposition presented to emergency department with a two-day history of sudden onset abdominal pain, hypertension and received empirical antibiotics with Imipenem/Cilastatin 0.5 g via intravenous route every 8 hours. Computed tomography (CT)-scan revealed that air encircling gallbladder is the most important and accurate evidence for EC diagnosis.Laparoscopic cholecystectomy was performed, and no stone was seen in gallbladder.The patient's temperature and pulses returned to normal following laparoscopic cholecystectomy. The festering bile culture report showed E.coli and pathological analysis of the resected gallbladder disclosed that necrosis and mild mucosal dysphasia. The patient fully recovered without complication at outpatient clinic visit three months later.The EC is an acute infection of the gallbladder wall caused by gas-forming organisms, is a life-threatening cholecystitis with mortality rate as high as 25%. Therefore, the combination of laparoscopic cholecystectomy and antibiotics is recommended as soon as possible once the diagnosis of EC was a clean-cut.
Factors differentiating callous-unemotional children with and without conduct problems.

BACKGROUND Callous-unemotional (CU) traits are a risk factor for a severe, aggressive, and persistent pattern of conduct problems (CP). This study investigated characteristics that might differentiate children with elevated CU traits with and without CP in an effort to identify factors that may reduce the risk for CP in children with limited prosocial emotions. METHODS Utilizing a sample of 1,366 children from Cyprus, five groups were identified for further study based on latent profile analysis: low-risk (67.2%), high-CP/low-CU (7.9%), high-CU (9.4%), moderate-CP/CU (8.4%), and high-CP/CU (7.2%). The identified groups were compared on behavioral and social measures. RESULTS There were significant main effects of group for: impulsivity and executive functioning; parenting; and connectedness to school. The high-CU group had significantly lower hyperactivity-impulsivity and executive functioning deficits, significantly higher self-regulation, and their mothers reported more maternal involvement and positive parenting than those in the high-CP/CU group. Also, the high-CU group showed more school connectedness than those in the high-CP/CU group. CONCLUSIONS These findings highlight several factors in the child and in his or her social environment that are associated with CU traits in the absence of serious CP and that may suggest targets for intervention for youth who may lack prosocial emotions.
Structure of the Bundle-forming Pilus from Enteropathogenic Escherichia coli*

Bundle-forming pili (BFP) are essential for the full virulence of enteropathogenic Escherichia coli (EPEC) because they are required for localized adherence to epithelial cells and auto-aggregation. We report the high resolution structure of bundlin, the monomer of BFP, solved by NMR. The structure reveals a new variation in the topology of type IVb pilins with significant differences in the composition and relative orientation of elements of secondary structure. In addition, the structural parameters of native BFP filaments were determined by electron microscopy after negative staining. The solution structure of bundlin was assembled according to these helical parameters to provide a plausible atomic resolution model for the BFP filament. We show that EPEC and Vibriocholerae type IVb pili display distinct differences in their monomer subunits consistent with data showing that bundlin and TcpA cannot complement each other, but assemble into filaments with similar helical organization.
Smoking, Chronic Wound Healing, and Implications for Evidence-Based Practice

Chronic wounds are rising in prevalence and creating significant socioeconomic burdens for patients and healthcare systems worldwide. Therefore, it is now more important than ever that clinicians follow evidence-based guidelines for wound care when developing personalized treatment plans for their patients with chronic wounds. Evidence-based guidelines for treating venous leg ulcers, diabetic foot ulcers, and pressure ulcers, the 3 main categories of chronic wounds, focus primarily on biologic therapies. However, there are also evidence-based guidelines for treating behavioral risks to poor healing, such as smoking, which should be incorporated into treatment plans when appropriate. The purpose of this article was to review the mechanisms through which smoking adversely impacts the wound healing process, and propose strategies for incorporating evidence-based guidelines for treating tobacco dependence into treatment plans for patients with chronic wounds who smoke.
The Political Battle for Repeal: Personal Reflections from the Frontlines

This article chronicles the story of the author's role as a U.S. Congressman in the effort to repeal the military's Don't Ask, Don't Tell policy. Through a first-hand narrative, it discusses highs and lows in the fight, from President Obama's commitment in his State of the Union Address to lift the ban to Secretary of Defense Robert Gates’ plea for Congress to delay a vote, and shares his personal feelings upon achieving victory.
A population-based validation of the American Joint Committee on Cancer melanoma staging system.

PURPOSE A major revision of the American Joint Committee on Cancer (AJCC) stages for melanoma was implemented in 2002 after its validation in multinational cohorts including patients from cancer centers and cooperative groups. This staging system has not been validated in a US population-based cohort. PATIENTS AND METHODS We used 41,417 patients with primary invasive cutaneous melanoma diagnosed between 1988 and 2001 from the National Cancer Institute's Surveillance, Epidemiology, and End Results (SEER) cancer registry to validate the revised AJCC staging system. Survival rates computed from stage-specific Kaplan-Meier curves (time to melanoma-specific death) were compared with the survival rates from 17,600 patients in the original AJCC validation study. RESULTS In the SEER cohort, 65% of reported melanomas were < or = 1.00 mm in thickness and 8.7% were more than 4.00 mm compared with 39% and 10% in the AJCC cohort (P < .001), respectively. AJCC stages were able to discriminate among SEER patient groups with different prognosis. However, SEER survival rates were significantly higher than those in the AJCC study and notably so in patients with T1a lesions (< or = 1 mm without ulceration). This population-specific effect remained significant after controlling for lesion thickness in all substages except stage IIA. CONCLUSION Although this national population-based study validates the most recent revision of AJCC stages for melanoma, it emphasizes that survival rates are population specific and found them to be generally higher for SEER compared with AJCC patients. Population-specific survival rates should be used in study designs and decisions about patient-specific interventions.
Electron Donors Utilized by Sulfate-Reducing Bacteria in Eutrophic Lake Sediments

Mineralization rates of 14C-labeled substrates were determined in the presence and absence of Na2MoO4, an inhibitor of sulfate reduction, in the profundal sediments of a shallow eutrophic lake. Sulfate reduction was inhibited by Na2MoO4 at all concentrations tested (0.2 to 200 mM), whereas methane production was inhibited at Na2MoO4 concentrations greater than 20 mM. Initial mineralization rates of glucose were unaffected by Na2MoO4; however, Na2MoO4 decreased the mineralization rates of lactate (58%), propionate (52%), an amino acid mixture (85%), and acetate (14%). These decreases in the rates of mineralization were attributed to inhibition of sulfate reduction. Hydrogen stimulated the reduction of 35SO42− 2.5- to 2.8-fold, demonstrating potential hydrogen oxidation by sulfate-reducing bacteria. These results indicate that sulfate reducers utilize an array of substrates as electron donors and are of potential significance to the in situ mineralization of lactate, propionate, and free amino acids in these sediments.
There is no gap 'per se' between theory and practice: Research knowledge and clinical knowledge are developed in different contexts and follow their own logic.

The aim of this article is to highlight relations between theory and practice and the genesis of professional action in clinical nursing and among researchers. With use of a sociologically based empirical approach, focus is placed on the knowledge involved in the work of researchers and practitioners in terms of the source of their knowledge. Unlike a dominant barrier paradigm, theory and practice have different logics; they are not on a continuum nor are they hierarchically ordered. They exist in their own right as theoretical knowledge and practical knowledge. In daily practice, clinical nurses are inspired and learn from the context, including each other, and they are active producers of knowledge, not simply recipients of knowledge. This study, therefore, claims that there is no research-practice gap "in itself" (per se) as argued in the "barriers paradigm. "
Clinical validation of a second-generation fructosamine assay.

The serum fructosamine assay, used to monitor short-term clinical glycemic control, reportedly has several technical drawbacks. However, technical improvements have resulted in a new second-generation assay of fructosamine. We evaluated this second-generation assay (from Roche Diagnostics) in 529 nondiabetic and diabetic patients and found a highly significant correlation with results of the first-generation assay (r = 0.91, P less than 0.001). Use of the second-generation assay with samples from patients classified on the basis of glycemic control according to their glycohemoglobin (GHb) values, enabled us to discriminate between the nondiabetics, diabetics with "good/moderate" control (i.e., GHb less than 10%), and diabetics with "poor" control (GHb greater than or equal to 10%). We evaluated the validity of the second-generation assay to assess short-term glycemic control in 23 non-insulin-dependent diabetic patients who participated for 10 weeks in an intensive intervention program designed to rapidly normalize the clinical glycemic profile. Results correlated significantly with the one-week average capillary blood glucose concentration (CBG) and with the three-week average CBG in all 23 patients. In addition, the second-generation fructosamine assay results demonstrated a significant decrease at each week of study, as did the average CBG. Results of the first- and second-generation assays correlated significantly at each week of study. GHb correlated significantly with both the second- (r = 0.78, P less than 0.001) and first-generation fructosamine assay results (r = 0.77, P less than 0.001) for the baseline blood samples of the intervention study, but this correlation decreased (to r = 0.35, P = 0.09 and r = 0.34, P = 0.09, respectively) by the conclusion of the study.