Miracle-dz/UniFAR-FTUs huggingface dataset:
Genome scan in sibling pairs with juvenile‐onset mood disorders: Evidence for linkage to 13q and Xq

Mood disorders (bipolar and depressive disorders) in children and adolescents are associated with significant morbidity and mortality. Twin and family studies, for the most part, indicate higher familiality and heritability for mood disorders that onset in childhood/adolescence than those that onset in adulthood. To identify the genetic contribution to mood disorders that onset in childhood/adolescence, we performed a genome scan on 146 nuclear families from Hungary containing an affected proband and affected siblings. In total, the pedigrees contained 303 affected children: 146 probands, 137 siblings with a first episode of mood disorder before 14.9 years of age, and 20 siblings with onset of their first episode after 14.9 years of age but before the age of 18. The results of the genome scan using 405 microsatellite markers did not provide evidence for linkage at the recommended genome wide significance level for any novel loci. However, markers on two chromosomes, 13q and Xq, provided evidence for linkage in regions previously identified as linked to bipolar disorder in multiple studies. For the marker on chromosome 13q the peak non‐parametric multipoint LOD score was at the marker D13S779 (LOD = 1.5, P = 0.004). On chromosome Xq, evidence for linkage was observed across a large region spanning two regions previously linked to bipolar disorder; Xq24 to Xq28, with a peak at marker TTTA062 (LOD 2.10, P = 0.0009) in Xq28. Results for these regions exceed the recommended P‐value for a replication study of P < 0.01 and thus provide evidence for these two loci as contributing to mood disorders with juvenile onset. © 2008 Wiley‐Liss, Inc.
Spontaneous intracranial hypotension resulting in stupor caused by diencephalic compression

A 51-year-old man had a 4-month history of progressive headache and gradual onset of somnolence. MRI suggested spontaneous intracranial hypotension (SIH) with diencephalic compression, but he did not improve after three epidural blood patches. He became alert following intrathecal saline infusion that normalized his CSF pressure. A CSF leak was noted on spinal MRI and confirmed with CT contrast myelography. Surgical ligation of a torn dural root sleeve isolating a ruptured Tarlov's cyst resulted in permanent cure.
Labeling and Filtering of Medical Information on the Internet

Abstract Internet information undergoes no quality controls and virtually anybody can publish anything. Because of this, it is difficult for searchers to take information retrieved from the Internet at face value. A related problem is the uncontrolled promotion of medical products on the Internet. A further problem of today’s Internet is that authors use no uniform keywords and other descriptive labels, which deteriorates the quality of search results. A solution for all these problems could be widespread use of descriptive and evaluative metainformation associated with medical Internet information. Our concept is based on a recently established infrastructure for assigning metadata to Internet information, the so-called PICS Standard (Platform for Internet Content Selection). We prototyped a PICS-based rating vocabulary for medical information (med-PICS), containing descriptive and evaluative categories, to be used by the webauthor and third-party label services (such as medical associations), respectively. We propose an international effort to assign metadata to medical Internet information.
Beamformer Design for the MIMO Interference Channels under Limited Channel Feedback

In this paper, beamforming design is considered for a K-user multiple-input-multiple-output interference channel (MIMO-IC) under limited channel feedback budget at the users. Using a geometrical framework, an analytical expression for the upper bound on the total rate loss due to limited channel feedback is derived. The rate loss is a function of the total feedback budget available to the receiver, the strength of the desired and the interfering links at the users and the network parameters. This rate loss upper bound metric is then minimized at each receiver locally by allocating the feedback bits optimally among the links observed by it. We obtain an interesting result that under limited channel feedback budget at the users, interference alignment (IA) may not be the appropriate beamforming strategy. Based on the feedback bit allocation policy to minimize the rate loss upper bound at the receiver and the corresponding channel quantization error statistics at the transmitter, an improved beamformer design is proposed. The proposed beamformer shows a higher throughput gain compared to all other existing schemes.
Modeling Species' Distributions to Improve Conservation in Semiurban Landscapes: Koala Case Study

Abstract: Models of species' distributions are commonly used to inform landscape and conservation planning. In urban and semiurban landscapes, the distributions of species are determined by a combination of natural habitat and anthropogenic impacts. Understanding the spatial influence of these two processes is crucial for making spatially explicit decisions about conservation actions. We present a logistic regression model for the distribution of koalas ( Phascolarctos cinereus) in a semiurban landscape in eastern Australia that explicitly separates the effect of natural habitat quality and anthropogenic impacts on koala distributions. We achieved this by comparing the predicted distributions from the model with what the predicted distributions would have been if anthropogenic variables were at their mean values. Similar approaches have relied on making predictions assuming anthropogenic variables are zero, which will be unreliable if the training data set does not include anthropogenic variables close to zero. Our approach is novel because it can be applied to landscapes where anthropogenic variables are never close to zero. Our model showed that, averaged across the study area, natural habitat was the main determinant of koala presence. At a local scale, however, anthropogenic impacts could be more important, with consequent implications for conservation planning. We demonstrated that this modeling approach, combined with the visual presentation of predictions as a map, provides important information for making decisions on how different conservation actions should be spatially allocated. This method is particularly useful for areas where wildlife and human populations exist in close proximity.
Treatment of painful compression vertebral fractures with vertebroplasty: results and complications.

AIM The aim of this paper is to assess the effectiveness and safety of percutaneous vertebroplasty in patients with focal pain caused by compression vertebral body fractures. MATERIALS AND METHODS Over an eleven-month period 49 patients underwent percutaneous vertebroplasty, of which seven were retreated, for a total of 56 operations on 108 vertebrae. The patients were affected by osteoporotic compression fractures (n=28) or by benign and malignant infiltrative processes (n=21). All of the patients were examined at discharge and later at one week, and one, three, six and nine months after surgery to ascertain the development of the pain and possible changes in the quality of life. The mean length of follow-up was 3.8 months. RESULTS One week after treatment all patients reported complete disappearance or significant alleviation of the pain. In 8 out of 49 patients (16.3%) there was a reoccurrence of pain; 7 of these patients underwent further treatment at another level with immediate pain relief. After surgery only three patients (6.1%) continued to take non-steroidal anti-inflammatory drugs (NSAIDs), whereas prior to surgery all patients were taking pain medication. We also observed an important benefit in the quality of life, in that after treatment all patients reported an improvement in functional abilities, and only three (6.1%) still had to wear a back brace (against 15 in the preoperative period). We only had one serious complication (1.7%) which involved the formation of a subcutaneous paravertebral haematoma, which was resolved in about a week. Eight patients (16.3%) developed transient pain at the site of the puncture or radiculopathy in the days following the operation. In 63 out of 108 of the treated vertebrae (58) there were small asymptomatic leakages of cement outside the vertebral body and in two asymptomatic patients (3.5%) the chest radiograph revealed a small pulmonary embolism of cement. DISCUSSION Our experience confirms the effectiveness of vertebroplasty in the treatment of pain caused by vertebral fractures. If the indications are respected the improvement of symptoms is often immediate, such as the return of mobility, and patient satisfaction with surgery is higher. The use of appropriate guiding systems limits the number of complications.
Assessment of the Understanding of Statistical Concepts

Much has been written about methods of teaching statistics and about how to assess students' knowledge of statistics, but almost nothing on the extent to which assessment procedures measure whether students understand statistical concepts, or what is involved in the application of techniques, and little research has been done on the development of instruments to measure statistical understanding. This paper reviews work in related areas. Measurement of understanding ideally forms part of most assessment procedures, but it can be hard to isolate the understanding of concepts from knowledge of basic definitions and from computations. A student who has produced a correct "solution" does not necessarily understand the solution, or even the "question" behind it. It should be possible to assess understanding through the practical skills of doing and communicating statistics.
Factors Interfering with Delineation on MRCP of Pancreaticobiliary Maljunction in Paediatric Patients

Background The aim of this study was to assess factors for delineating the pancreaticobiliary junction in the presence of pediatric congenital choledochal cysts (CCC) using Magnetic resonance cholangiopancreatography (MRCP). Methods Retrospective review of medical records for 48 patients with CCC was conducted, including demographics, biliary amylase and MRCP findings if available. With univariate and multivariate logistic regression, we measured significant factors affecting pancreaticobiliary maljunction(PBM) diagnoses by MRCP. Results Of the subjects enrolled with CCC. Twenty-eight cases had PBM according to MRCP. Univariate analysis confirmed that age, cyst diameter > 30 mm and cysts that descended to the introitus pelvis affected junctional delineation and detection of PBM (P<0.05). Stepwise logistic regression analysis confirmed large cysts in the introitus pelvis predicted pancreaticobiliary junctional delineation in MRCP and these data agreed with the literature. A correlation between cyst diameter and the length of the common channel was found as was cyst diameter and biliary amylase although there were no significant differences between them. Conclusions Age, cyst diameter >30 mm and descending cysts into the introitus pelvis affected junctional delineation of the pancreatic and bile duct in PBM with MRCP. Large cyst descension into the introitus pelvis was an independent factors affecting PBM detection.
Standardized uptake value-based evaluations of solitary pulmonary nodules using F-18 fluorodeoxyglucose-PET/computed tomography

ObjectiveCombined positron emission tomography and computed tomography (PET/CT) might improve the accuracy of PET tracer quantification by providing the exact tumour contour from coregistered CT images. We compared various semiquantitative approaches for the characterization of solitary pulmonary nodules (SPNs) using F-18 fluorodeoxyglucose PET/CT. MethodsThe final diagnosis of 49 SPNs (46 patients) was based on histopathology (n=33) or patient follow-up (n=16). The regions of interest (ROIs) were drawn around lesions based on the CT tumour contour and mirrored to the coregistered PET images. Quantification of F-18 fluorodeoxyglucose uptake was accomplished by calculating the standardized uptake value (SUV) using three different methods based on: activity from the maximum-valued pixel within the tumour (SUV-max); the mean ROI activity within the transaxial slice containing the maximum-valued pixel (SUV-mean); and the mean activity over the full tumour volume (SUV-vol). SUVs were corrected for partial volume effects and normalized by body surface area, lean body weight, and blood glucose. Recovery coefficients for partial-volume correction were derived from phantom studies. The ability of various SUVs to differentiate between benign and malignant SPNs was determined by calculating the area under the receiver operating characteristic (ROC) curves. ResultsTwenty-six SPNs were malignant and 23 were benign. The area under the ROC curve was 0.78 for SUV-mean, 0.83 for SUV-max, and 0.78 for SUV-vol. SUV-max and its normalizations yielded the highest area under the ROC curve (0.83–0.85); SUV-mean-partial volume corrected-lean body weight resulted in the lowest area under the ROC curve (0.76). At a specificity of 80%, SUV-max-body surface area provided the highest sensitivity (81%) and accuracy (80%) to detect malignant SPN. Using SUV-max with a cutoff of 2.4 at a specificity of 80% resulted in a sensitivity of 62% (accuracy 71%). ConclusionVarious normalizations applied to SUV-max provided the highest diagnostic accuracy for characterization of SPNs. Quantification methods using the exact tumour contour derived from CT in combined PET/CT imaging (ROI mean activity within a single transaxial slice and mean tumour volume activity) did not result in improved differentiation between benign and malignant SPN. Obtaining SUV-max might be sufficient in the clinical setting.
Facial Dermis Grafts After Removal of Basal Cell Carcinomas

Abstract Selecting a proper reconstruction method is the key to success in skin cancer management, especially for lesions involving the face. Using a skin graft is usually straightforward when covering a skin defect; however, major concerns in skin grafting include a poor color match in the recipient-site and donor-site morbidity. To overcome these limitations, the authors have developed a dermis graft, which utilizes a de-epithelialized split-thickness skin graft method. The purpose of this retrospective study was to report reliability of dermis grafts after removal of basal cell carcinomas (BCCs) on the face by presenting our clinical experience with them. This study included 38 patients who were treated for facial defects created by resection of BCCs. The locations of the defects were as follows: nose (n = 17), orbital area (n = 14), cheek (n = 4), temple area (n = 2), and forehead (n = 1). The defects ranged in size from 3.3 to 6.5 cm2. Functional and cosmetic outcomes, postoperative complications, and patient satisfaction were assessed. The patients were followed up for 12 to 36 months. The entire dermis graft re-epithelialized after grafting within 17 to 27 days. Most of the patients had satisfactory results in both functional and cosmetic matters with high-quality skin characteristics. There were no significant complications and no recurrences were observed during the follow-up period. Patient satisfaction with the dermis graft was also excellent. The dermis graft may be used reliably for covering defects after removal of BCCs on the face.
Why do we tag photographs on Facebook? Proposing a new gratifications scale

Using a multi-stage investigation, this study developed and validated a 35-item instrument for measuring gratifications of photo-tagging on Facebook. The questions were developed based on open-ended responses of 141 people who use photo-tags on Facebook. From their answers, 58 items were extracted and then tested on 780 people. This resulted in a 35-item scale that was re-examined with 313 adolescents and 186 adult photo-taggers. The 35-item instrument offers nine gratifications: likes and comments, social influence, peer pressure, gains popularity, entertainment, feels good, social sharing, affection, and convenience. The factorial structure and instrument validity and reliability were high and fairly stable over time. The findings are discussed in relation to the uses and gratifications theory, and the practical implications of this new instrument are explored.
Zinc in Wound Healing Modulation

Wound care is a major healthcare expenditure. Treatment of burns, surgical and trauma wounds, diabetic lower limb ulcers and skin wounds is a major medical challenge with current therapies largely focused on supportive care measures. Successful wound repair requires a series of tightly coordinated steps including coagulation, inflammation, angiogenesis, new tissue formation and extracellular matrix remodelling. Zinc is an essential trace element (micronutrient) which plays important roles in human physiology. Zinc is a cofactor for many metalloenzymes required for cell membrane repair, cell proliferation, growth and immune system function. The pathological effects of zinc deficiency include the occurrence of skin lesions, growth retardation, impaired immune function and compromised would healing. Here, we discuss investigations on the cellular and molecular mechanisms of zinc in modulating the wound healing process. Knowledge gained from this body of research will help to translate these findings into future clinical management of wound healing.
Auto-adjusting positive airway pressure treatment for sleep apnea diagnosed by home sleep testing.

STUDY OBJECTIVES Compare auto-adjusting positive airway pressure (APAP) treatment with positive airway pressure (PAP) titration by polysomnography (PSG) followed by CPAP treatment in patients diagnosed with obstructive sleep apnea (OSA) by home sleep apnea testing (HSAT). DESIGN Prospective randomized treatment study. SETTING Tertiary Veterans Administration Medical Center. PARTICIPANTS 156 patients diagnosed with OSA by HSAT (apneahypopnea index [AHI] ≥ 10/h) suitable for APAP treatment. INTERVENTIONS APAP arm: Treatment with an APAP device, CPAP arm: PSG PAP titration followed by CPAP treatment. MEASUREMENTS Mean PAP adherence, Epworth sleepiness scale (ESS), Functional Outcomes of Sleep Questionnaire (FOSQ). RESULTS The mean (± SD) age, BMI, and diagnostic AHI (APAP: 28.6 ± 18.5, CPAP: 28.3 ± 16.0/h, p = NS) did not differ between the study arms. After 6 weeks of treatment, 84.6% of 78 patients started on APAP and 84.3% of 70 patients started on CPAP (8 declined treatment after the titration) were using PAP, p = NS. The 90% APAP and level of CPAP were similar (10.8 ± 3.1, 11.7 ± 2.5 cm H2O, p = 0.07). The average nightly PAP use did not differ (APAP: 4.45 ± 2.3, CPAP: 4.0 ± 2.3 h, p = NS). The improvements in the ESS (APAP: -4.2 ± 4.7, CPAP: -3.7 ± 4.8, p = NS) and in the FOSQ (APAP: 2.6 ± 3.5, CPAP: 2.2 ± 3.7, p = NS) were not different. CONCLUSIONS Following diagnosis of OSA by HSAT, treatment with APAP results in equivalent PAP adherence and improvement in sleepiness compared to a PSG titration and CPAP treatment. COMMENTARY A commentary on this article appears in this issue on page 1277.
Two-year outcomes after transcatheter or surgical aortic-valve replacement.

BACKGROUND The Placement of Aortic Transcatheter Valves (PARTNER) trial showed that among high-risk patients with aortic stenosis, the 1-year survival rates are similar with transcatheter aortic-valve replacement (TAVR) and surgical replacement. However, longer-term follow-up is necessary to determine whether TAVR has prolonged benefits. METHODS At 25 centers, we randomly assigned 699 high-risk patients with severe aortic stenosis to undergo either surgical aortic-valve replacement or TAVR. All patients were followed for at least 2 years, with assessment of clinical outcomes and echocardiographic evaluation. RESULTS The rates of death from any cause were similar in the TAVR and surgery groups (hazard ratio with TAVR, 0.90; 95% confidence interval [CI], 0.71 to 1.15; P=0.41) and at 2 years (Kaplan-Meier analysis) were 33.9% in the TAVR group and 35.0% in the surgery group (P=0.78). The frequency of all strokes during follow-up did not differ significantly between the two groups (hazard ratio, 1.22; 95% CI, 0.67 to 2.23; P=0.52). At 30 days, strokes were more frequent with TAVR than with surgical replacement (4.6% vs. 2.4%, P=0.12); subsequently, there were 8 additional strokes in the TAVR group and 12 in the surgery group. Improvement in valve areas was similar with TAVR and surgical replacement and was maintained for 2 years. Paravalvular regurgitation was more frequent after TAVR (P<0.001), and even mild paravalvular regurgitation was associated with increased late mortality (P<0.001). CONCLUSIONS A 2-year follow-up of patients in the PARTNER trial supports TAVR as an alternative to surgery in high-risk patients. The two treatments were similar with respect to mortality, reduction in symptoms, and improved valve hemodynamics, but paravalvular regurgitation was more frequent after TAVR and was associated with increased late mortality. (Funded by Edwards Lifesciences; ClinicalTrials.gov number, NCT00530894.).
Dementia care in European countries, from the perspective of people with dementia and their caregivers.

AIM To investigate persons with dementia and their informal caregivers' views of inter-sectoral information, communication and collaboration throughout the trajectory of dementia care, in eight European countries. BACKGROUND Living with dementia and being next of kin to a person with dementia means having to live through stages that have different characteristics, needs, challenges and requirements. DESIGN Qualitative research. Focus groups were conducted in England, Estonia, Finland, France, Germany, The Netherlands, Spain and Sweden. METHODS Persons with dementia and their informal caregivers (N = 137) participated in focus group interviews during 2011. Content analysis generated a tentative model of information, communication and collaboration for people with dementia and their caregivers, which was then tested. RESULTS The core finding was that information, communication and collaboration were to be focused on the persons with dementia and the informal caregivers. Entering into the trajectory of the disease and its consequences was addressed as an important point of departure. The relation to professional care required establishing a trusting relationship, tailor-made intervention and a single person or organization to contact. Professional knowledge and commitment, variation in service and care adapted to needs were important. CONCLUSION As focus of care is on the person with dementia and their informal caregivers, a dyadic approach seems most suitable for dementia care. A trusting relationship and a specific person or organization to contact seem to be indicators of best practice, as does adaptation to the needs of the person with dementia and their informal caregiver.