Miracle-dz/UniFAR-FTUs huggingface dataset:
Another Rare Case of a Child with de novo Terminal 9p Deletion and Co-Existing Interstitial 9p Duplication: Clinical Findings and Molecular Cytogenetic Study by Array-CGH

Trisomy 9p is the fourth most common chromosome abnormality found in liveborns. We report on a rare case of partial trisomy 9p complicated by partial monosomy 9p. Clinical manifestation included craniofacial abnormalities typical for trisomy 9p syndrome, developmental delay, mental retardation and brain anomaly in the form of Dandy-Walker malformation. The cytogenetic abnormality was investigated with FISH and array-CGH to characterize the breakpoints of the complex rearrangement. The patient’s karyotype was 46,XX,der(9)del(9)(p24)dup(9)(p21p24)dn.arr 9p24.3p24. 2 (1–2,414,485)×1,9p24.2p21. 3(2,414,485–24,101,280)×3. The cytogenetic rearrangement led to a 2.4-Mb deletion of 9p24.2pter and a 21.6-Mb duplication of 9p24.2p21. 3. The clinical and cytogenetic findings in our and other similar patients are compared.
Aspiration in chemoradiated patients with head and neck cancer.

OBJECTIVE To review the incidence of aspiration after chemoradiation therapy in patients with head and neck cancer (HNC). DESIGN Retrospective review. SETTING Academic institution. PATIENTS One hundred thirty patients with advanced HNC underwent chemoradiation therapy at our institution between 1998 and 2002 as part of a larger, multi-institutional, prospective study of induction chemotherapy followed by chemoradiation therapy; the 118 patients (91%) for whom oropharyngeal motility (OPM) study data were available are discussed in this article. MAIN OUTCOME MEASURES Incidence of trace (</= 5% of swallowed bolus) and frank (> 5%) aspiration (deep laryngeal or tracheal penetration) as determined by pretreatment and posttreatment OPM studies and correlation of the findings with the patients' reported symptoms. RESULTS Eighty-one patients (69%) underwent at least 1 OPM study demonstrating aspiration within the first year after chemoradiation therapy, with 30 (25%) demonstrating frank aspiration. Of the patients who aspirated, 61 (75%) reported no symptoms of coughing or choking (80% of trace and 67% of frank aspirators). The patients with cancer of the larynx and hypopharynx were more likely to be aspirators (P = .007 and P = .004, respectively). Of the 62 patients with available pretreatment OPM data, 33 (53%) demonstrated aspiration at baseline. CONCLUSIONS Aspiration is highly prevalent among patients with advanced HNC at baseline and is worse in the posttreatment period after chemoradiation therapy. The majority of these patients report no symptoms. All patients with advanced HNC should undergo instrumental swallow assessment, even in the absence of symptoms, to detect subclinical aspiration and to institute therapeutic maneuvers and swallow precautions as well as to determine the safety of oral feeding.
Psychological factors after traumatic amputation in landmine survivors: The bridge between physical healing and full recovery

Purpose: Limb loss due to a landmine injury is sudden and devastating. The resulting disability makes life challenging in a world where physical ability is the ‘norm’. In order to better understand the psychological adjustments individuals make in their recovery from a landmine injury, the Landmine Survivors Network conducted an exploratory qualitative study to determine factors that contribute to an individual's recovery. The study examined psychosocial aspects, coping strategies, and resilience characteristics of limb loss survivors across differing cultural, societal and economic backgrounds. Method: Eighty-five participants (68 persons of limb loss, 10 family members, seven service providers) were interviewed using a semi-structured protocol in the USA and an open-ended format in six landmine affected countries. Data analysis was completed using grounded theory analytic strategies. Results: Data indicated that the survivors' acceptance of limb loss and their state of psychological recovery were greatly influenced by the individual's resilience characteristics, social support, medical care, economic situation and societal attitudes toward people with disabilities. Conclusion: Recovery from traumatic amputation in landmine survivors needs to be comprehensive and coordinated, and requires addressing the individual's physical, psychological, economic and social needs within the context of family, community, and the socio-cultural environment in which they live.
Dutch Disease, Real Effective Exchange Rate Misalignments and Their Effect on GDP Growth in the EU

In this article we study the impact of real effective exchange rate misalignments, based on determinants, including different types of foreign capital inflows, on GDP growth in the EU. This can provide a useful contribution to understanding the causal link between inflows, real effective exchange rate disequilibria and GDP growth during both the boom and the crisis period. For this analysis, we use a panel of 27 EU countries for the period 1994–2012, with annual frequency. We find that the core countries have been mostly undervalued from the crisis onwards, while the periphery (excluding Ireland) were overvalued starting from 2003–2004, as expected. Concerning the new Member States, these are persistently overvalued for the entire time span. The results seem to be generally driven by the inflows of banking loans more than by FDIs or portfolio investments. In the second stage, we study the influence of exchange rate misalignments and volatilities on growth. We argue that the real effective exchange rate misalignments associated with the inflows have been a further cause for decline in GDP, in a long-run perspective, while they do not play a role in the short run. The exchange rate volatilities and the undervaluation dummy are not robust in affecting GDP growth, while spillovers and global factors seem to matter in all the specifications both in the short and long run.
In Vivo Localization of Staphylococcus aureus in Nasal Tissues of Healthy and Influenza A Virus-Infected Ferrets

Abstract An in vivo ferret model was used to study the association of Staphylococcus aureus with specific tissues of the nasal cavity in both control and influenza A virus-infected animals. Ferrets were inoculated intranasally with various doses of influenza A3/Hong Kong/1/68 virus. On Days 2, 5, 9 and 14, four or five virus-inoculated and two uninoculated controls were challenged intranasally with a 1-ml volume of radiolabeled S. aureus (3 mg dry wt), a clinical isolate of low passage history. Ferrets were allowed to clear the staphylococci in vivo for 60 to 90 min before sacrifice. The animals were anesthetized, exsanguinated, and decapitated, and the lower jaw was removed. The nasal fossae were exposed by dissection and turbinates from the left nasal fossa were used for virus isolation. The median septum and tissues from the right nasal fossa, which included vestibule and anterior and posterior turbinates, were harvested and processed for radioassay. The percentage of recoverable staphylococci from virus-infected ferrets (Days 2 and 5) was ≥ 10-fold higher compared with controls and animals infected with suboptimal doses of virus; ≥ 76% of the recoverable staphylococci, whether from controls or virus-infected animals, was associated with the anterior turbinates. Histologic examination of the anterior turbinates from virus-infected ferrets, particularly on Days 2 and 5 postexposure to virus, showed that the staphylococci were adhering to desquamating respiratory epithelial cells. In contrast, the anterior turbinates from control ferrets uninoculated with virus and posterior turbinates from both control and virus-infected animals showed no evidence of bacteria adhering to host cells; instead, the staphylococci were found in association with the mucus gel layer of respiratory mucosa. Examination of vestibular tissue showed staphylococci in association with cells of the stratum granulosum in both virus-infected and control animals. Results of this study suggest that the early events of S. aureus interaction with different sites of ferret nasal tissues are effected by different mechanisms, and that the interaction is significantly enhanced by virus-infection.
Incidence rates of malignant mesothelioma in Denmark and predicted future number of cases among men.

OBJECTIVES This study analyzed the incidence rates of malignant mesothelioma in Denmark in order to predict the future number of cases that will occur among Danish men. METHODS The 1912 cases of malignant mesothelioma reported to the Danish Cancer registry in 1943-1993 were analyzed in order to describe current incidence rates. By a Poisson regression model the relative risks of synthetic birth cohorts were estimated and used in the prediction of the future number of cases that will occur among Danish men. RESULTS The incidence rate increased to 1.33 per 100000 person-years in 1983-1987 among men and to 0.51 in 1973-1977 among women. From the Poisson regression model, the risk for birth cohorts of men, relative to the 1940-1944 cohort, peaked in the 1940-1944 cohort and decreased to 0.57 in the 1950-1954 cohort. The age-specific incidence rate peaked at 246 per 100000 person-years in the age group 80-84 years. The future annual number of mesothelioma cases is expected to peak around 2015 with 93 cases among men born before 1955. CONCLUSIONS The fit of the models was not ideal, but with careful interpretation of the results, it was concluded that a further increase in the number of mesothelioma cases can be expected, and the effect of regulating the environmental exposure to asbestos cannot be expected within the next 10-15 years.
Childhood obsessive-compulsive personality traits in adult women with eating disorders: defining a broader eating disorder phenotype.

OBJECTIVE The authors retrospectively examined a spectrum of childhood traits that reflect obsessive-compulsive personality in adult women with eating disorders and assessed the predictive value of the traits for the development of eating disorders. METHOD In a case-control design, 44 women with anorexia nervosa, 28 women with bulimia nervosa, and 28 healthy female comparison subjects were assessed with an interview instrument that asked them to recall whether they had experienced various types of childhood behavior suggesting traits associated with obsessive-compulsive personality. The subjects also completed a self-report inventory of obsessive-compulsive disorder (OCD) symptoms. RESULTS Childhood obsessive-compulsive personality traits showed a high predictive value for development of eating disorders, with the estimated odds ratio for eating disorders increasing by a factor of 6.9 for every additional trait present. Subjects with eating disorders who reported perfectionism and rigidity in childhood had significantly higher rates of obsessive-compulsive personality disorder and OCD comorbidity later in life, compared with eating disorder subjects who did not report those traits. CONCLUSIONS Childhood traits reflecting obsessive-compulsive personality appear to be important risk factors for the development of eating disorders and may represent markers of a broader phenotype for a specific subgroup of patients with anorexia nervosa.
Science of Hyaluronic Acid Beyond Filling: Fibroblasts and Their Response to the Extracellular Matrix

Summary: Loss of viscoelasticity is one of the primarily signs of skin aging, followed by appearance of visible wrinkles. Hyaluronic acid (HA)-based fillers are widely used to fill wrinkles and compensate for volume loss. Recent clinical observations demonstrate persistence of the filling effect longer than the biological availability of the filler. Stimulation of new collagen by cross-linked HA and up-regulation of elastin have been suggested as possible explanation to this observation and have been supported experimentally. Cross-linked HA substitutes for fragmented collagen in restoring extracellular matrix required for normal activity of fibroblasts, such as collagen and elastin production. To restore extracellular matrix efficiently, serial monthly treatments are required. Boosting of facial and nonfacial skin through fibroblast activation is a new indication for HA-based products. Injectable HA has also been recently registered in Europe as agents specific for the improvement of skin quality (Restylane Skinboosters). Further explanation of the possible mechanisms supported by long-term clinical examples is presented herein.
Short-Term and Long-Term Effects of an Exercise-Based Patient Education Programme in People with Multiple Sclerosis: A Pilot Study

Background. Although people with Multiple Sclerosis (pwMS) benefit from physical exercise, they still show reduced physical activity and exercise behaviour. This study aimed to investigate short- and long-term effects of an exercise-based patient education programme (ePEP) that focuses on empowering pwMS to a sustainable and self-regulated exercise training management. Methods. Fourteen pwMS were randomly assigned to immediate experimental group (EG-I: n = 8) and waitlist-control group (EG-W: n = 6) and attended biweekly in a six-week ePEP. All participants were measured for walking ability, quality of life, fatigue, and self-efficacy towards physical exercise before and after the ePEP, after 12 weeks, and one year after baseline. Short-term effects were analysed in a randomised control trial and long-term effects of all ePEP participants (EG-I + EG-W = EG-all) in a quasi-experimental design. Results. Only functional gait significantly improved in EG-I compared to EG-W (p = 0.008, r = −0.67). Moderate to large effects were found in EG-all for walking ability. Not significant, however, relevant changes were detected for quality of life and fatigue. Self-efficacy showed no changes. Conclusion. The ePEP seems to be a feasible option to empower pwMS to a self-regulated and sustainable exercise training management shown in long-term walking improvements.
Serologic cross-reactions among Ehrlichia equi, Ehrlichia phagocytophila, and human granulocytic Ehrlichia

Homology in the 16S rDNAs shows that the agent of human granulocytic ehrlichiosis (HGE) is closely related to the veterinary pathogens Erlichia equi and Erlichia phagocytophila. After HGE, patients develop antibodies reactive with E. equi and E. phagocytophila; thus, we hypothesized that these species are closely related and share significant antigenicity. Antisera from humans, horses, dogs, and cattle were tested by indirect fluorescent-antibody assay (IFA) for antibodies reactive with E. equi and other ehrlichiae and tested by immunoblot to identify the specific reactions with E. equi. All convalescent-phase sera from human patients with HGE and from animals infected or immunized with E. equi or E. phagocytophila had antibodies reactive with E. equi by IFA; no reactions with Ehrlichia chaffeensis occurred with these sera, and only one horse naturally infected with E. equi had a serologic reaction against Ehrlichia sennetsu. Human and animal sera obtained after infection or immunization with other Ehrlichia, Rickettsia, and Bartonella species did not react with E. equi by IFA. E. equi immunoblots revealed as many as 19 bands with equine anti-E. equi serum. All HGE agent, E. equi, and E. phagocytophila antisera tested reacted with a 44-kDa antigen of E. equi, while other anti-Ehrlichia spp. sera reacted with this antigen rarely or not at all. HGE agent, E. equi, and E. phagocytophila antisera but not other sera also reacted occasionally with 25-, 42-, and 100-kDa antigens. Most sera reacted with antigens between approximately 56 and 75 kDa, probably heat shock proteins. The HGE agent, E. equi, and E. phagocytophila share significant antigenicity by IFA and immunoblot. Coupled with the nearly identical nucleotide sequences of 16S rRNA genes, these data indicate that E. equi, E. phagocytophila, and the human granulocytic ehrlichia are closely related or identical species.
Poverty and mental health: What should we know as mental health professionals?

BACKGROUND Social inequality as a social and economic phenomenon has become an issue of common interest in Europe and other societies worldwide, mainly after the recent global financial and economic crisis that occurred in 2008. The increasing gap observed between socioeconomically advantaged and disadvantaged people has caused intensive debates in politics, social sciences and in the field of public health. Today, poverty is considered as a major variable adversely influencing health. In this paper we will discuss the link between poverty and mental health. SUBJECTS AND METHODS We conducted a literature search focusing on three main objectives: (I) to investigate the definition of "poverty"; (II) to determine the association between poverty and major mental health problems; and (III) to discuss the extent to which poverty could be both a cause and a consequence of mental health. RESULTS We identified a total of 142 relevant papers, published between 1995 and 2014, only 32 were retained. Main findings are summarised in this paper. CONCLUSION Poverty can be considered as a risk factor for mental illness. Yet the relation between poverty and mental health is complex, without direct causation, and bidirectional. As poverty has severe consequences not only on health but also on the whole society, combating poverty should be placed high on the political agenda.
Muscle Sympathetic Nerve Activity in Blood Pressure Control Against Gravitational Stress

Summary: Muscle sympathetic nerve activity (MSNA) can be directly recorded from human peripheral nerves in situ using microneurography. MSNA plays an essential role to control systemic blood pressure against gravitational stress. MSNA was enhanced by changing posture against terrestrial gravity from lying to sitting, and from sitting to standing. This activity was enhanced by head‐up tilt depending on the gravitational input from the head to the leg (+Gz) in the human body. Orthostatic hypotension occurred when MSNA response to gravitational stress was impaired both in high and low responders of this sympathetic outflow. Syncope was preceded and/or associated by a withdrawal of MSNA. MSNA was suppressed by short‐term exposure to microgravity but was enhanced after longterm exposure to microgravity. Orthostatic intolerance after exposure to prolonged microgravity was associated with a reduction of increased MSNA response to gravitational stress. Aging influenced gravity‐related responses of MSNA.
Work‐Related Training and the Probability of Transitioning from Non‐Permanent to Permanent Employment

It is widely believed that work-related training increases a worker's probability of moving up the job-quality ladder. This is usually couched in terms of effects on wages, but it has also been argued that training increases the probability of moving from non-permanent forms of employment to more permanent employment. This hypothesis is tested using nationally representative panel data for Australia, a country where the incidence of non-permanent employment, and especially casual employment, is high by international standards. While a positive association between participation in work-related training and the subsequent probability of moving from either casual or fixed-term contract employment to permanent employment is observed among men, this is shown to be driven not by a causal impact of training on transitions but by differences between those who do and do not receive training, that is selection bias.
Temperature-sensitive mutants of foot-and-mouth disease virus with altered structural polypeptides. II. Comparison of recombination and biochemical maps

The structural polypeptides of foot-and-mouth disease virus were digested with Staphylococcus aureus V8 protease in the presence of sodium dodecyl sulfate. The protease-resistant peptides derived from temperature-sensitive mutants were compared with those of the wild type by electrofocusing in a polyacrylamide gel. Covariation between the charge shifts of different peptides indicated that they shared common sequences: only five independent peptides in all were derived from VP1, VP2, and VP3, accounting for approximately 50% of the polypeptide sequences. In two instances, amino acid substitutions that caused similar shifts in the isoelectric point were found to be located in different peptides. However, 15 mutants that possessed identical shifts in VP2 could not be distinguished by peptide analysis. The polypeptides of revertants able to grow at the nonpermissive temperature were compared with those of the parental mutants. By this test, 6 of the 12 distinguishable classes of coat protein mutations were found to covary with temperature sensitivity. In addition to true revertants, several phenotypic revertants which possessed a second charge change, either in a different structural polypeptide or in a different region of the same polypeptide, were isolated. The orientation of the recombination map was deduced from the loci of the coat protein mutations.
Alexithymia and fertility-related stress

ABSTRACT The investigation of the relationship between alexithymia, the inability to identify and describe feelings and the absence of fantasies, and fertility-related distress is a relatively neglected area of research. The aims of this study were to examine: (1) the prevalence of alexithymia in a sample of infertile women, and (2) the association between alexithymia, coping strategies, and fertility-related stress. This study included 160 infertile women undergoing in vitro fertilization in a public fertility clinic from September of 2013 to December of 2013. Self-report instruments were used to measure alexithymia (Toronto Alexithymia Scale-20), coping (COPE), and fertility-related stress (Fertility Problem Inventory). Bivariate and multiple linear regression were used. A high alexithymia score was positively associated with age, infertility duration, and low educational and economic level. Multivariate analyses showed that, controlling for demographic factors, high avoidance coping, low problem-appraisal coping, and high alexithymia were positively associated with fertility-related stress (β = 0.309, p < .001, β = −0.203, p = .006, β = 0.151, p = .050, respectively). Results of this study indicated that alexithymia during fertility treatment was associated with maladaptive coping strategies and psychological stress. In addition, the association between alexithymia and duration of infertility may be interpreted as secondary alexithymia acts as a coping strategy in infertile women.
Combination of resveratrol and antiandrogen flutamide has synergistic effect on androgen receptor inhibition in prostate cancer cells.

UNLABELLED Agents targeting the androgen receptor (AR) axis are critical for chemoprevention and treatment of prostate cancer (PCa) at all stages of the disease. Combination molecular targeted therapy may improve overall efficacy. The combination of dietary compound resveratrol with known therapeutic agents, such as the antiandrogen flutamide, may be particularly attractive due to the pharmacological safety of resveratrol. MATERIALS AND METHODS Resveratrol, 5α-dihydrotestosterone and flutamide were used in various experiments using mostly LNCaP cell line. Quantitative reverse transcription polymerase chain reaction (qRT-PCR), Western blots, and luciferase assay were utilized to examine the levels of AR mRNA, and protein and transcriptional activity in response to treatments. Growth proliferation assays were performed in three cell lines (LNCaP, PC3 and Du145). RESULTS Treatment of LNCaP cells with resveratrol (1-100 μM) resulted in the inhibition of androgen-promoted growth, inhibition of AR transcriptional activity and decrease in the AR and prostate-specific antigen protein levels through degradation pathways. The combination of resveratrol with flutamide had a synergistic effect on down-regulation of AR. CONCLUSION Resveratrol works in concert with antiandrogen flutamide to reduce the amount and activity of AR, suggesting new therapeutic strategies for the treatment of PCa.