Miracle-dz/UniFAR-FTUs huggingface dataset:
Postnatal screening for Klinefelter syndrome: is there a rationale?

Diagnosis of Klinefelter syndrome (KS) allows for timely beneficial interventions across the lifespan. Most cases currently remain undiagnosed because of low awareness of KS amongst health professionals, the hesitancy of men to seek medical attention and its variable clinical presentation. Given these barriers, population‐based genetic screening provides an approach to comprehensive and early detection. We examine current evidence regarding risks and benefits of diagnosing KS at different ages.
CASTLE tumor of the parotid: First documented case, literature review, and genetic analysis of the cancer

Carcinoma showing thymus‐like elements (CASTLE) is a rare tumor that normally affects the thyroid gland and was thought to arise from either the remnants of the branchial pouch or the ectopic cervical thymic tissue. These tumors show strong immunopositivity for CD5, P63, and CD117. Most CASTLE of the thyroid gland is treated with surgery with or without adjuvant radiotherapy or chemotherapy.
Lessons learned in designing and conducting a mixed methods study to explore the health of rural children

In Canada, the increase in childhood obesity has been greater in youth than in adults and in rural populations versus urban. The prevention of childhood obesity is crucial and warrants an approach that increases our understanding of children's perspectives of health. This study used an emic perspective to discover children's meaning of health and determined health behaviors of children in rural Saskatchewan, Canada. An explanatory sequential design and Creswell's five criteria for designing mixed methods studies provided a framework for this study, which addressed (a) What are the health characteristics of the study population? , (b) What is the rural context of children participating in the study, (c) What is the cultural meaning of health from the perspectives of this group of children? , and (d) Is the meaning of health thematically congruent from the perspective of healthy weight and unhealthy weight children? The prevalence of overweight and obesity was high. The meaning of health was multidimensional with the psychosocial dimension being most important to children. The rural environment contributed to children's health. Obesity places the present and future health of rural children at risk. The findings illustrate children are adept research participants. A mixed methods approach enhanced our understanding of children's health and provided insight into potential approaches for future health promotion programs. The study design was straightforward and practical to use with children.
Health‐related quality of life of Estonian adolescents: reliability and validity of the PedsQL™ 4.0 Generic Core Scales in Estonia

Aim: The main aim of this study was to examine the reliability and validity of the Pediatric Quality of Life Inventory™ 4.0 (PedsQL™ 4.0) Generic Core Scales among Estonian adolescents. Gender differences in health‐related quality of life (HRQoL) were also investigated.
Growing incidence of thyroid carcinoma in recent years: Factors underlying overdiagnosis

There is an increasing incidence of well‐differentiated thyroid cancer worldwide. Much of the increase is secondary to increased detection of small, low‐risk tumors, with questionable clinical significance. This review addresses the factors that contribute to the increasing incidence and considers environmental, and patient‐based and clinician‐led influences. Articles addressing the causes of the increased incidence were critically reviewed. A complex interplay of environmental, medical, and social pressures has resulted in increased awareness of the thyroid disease risk, increased screening of thyroid cancers, and increased diagnosis of thyroid cancers. Although there is evidence to suggest that the true disease incidence may be changing slightly, most of the increase is related to factors that promote early diagnosis of low‐risk lesions, which is resulting in a significant phenomenon of overdiagnosis. An improved understanding of these pressures at a global level will enable healthcare policymakers to react appropriately to this challenge in the future.
Current Practice Managements Regarding Thromboembolic Prophylaxis Within the Pediatric Sarcoma Patient Population

Objective: Children with cancer are approximately 600 times more likely to develop thromboses than the general pediatric population. Current management strategies for children have been extrapolated from adult studies and prophylaxis guidelines remain controversial. The purpose of this study is to survey the current thromboembolic prophylaxis practice methods of physicians treating pediatric sarcoma patients. Methods: Physicians involved in the care of sarcoma patients were surveyed using a 5-question survey designed to evaluate current clinical practices. Results: Of 107 responding physicians, 67 identified themselves as involved in the treatment of pediatric sarcoma patients. The providers most likely to use any form of deep vein thrombosis prophylaxis were orthopedic surgeons (60%), followed by general surgeons (45%), pediatric oncologists (30%), and medical oncologists (25%). Of the providers polled, 48% use mechanical forms, 20% use chemical forms, and 31% use a combination. Conclusions: Currently, there is a lack of consensus regarding thromboembolic prophylaxis for pediatric sarcoma patients.
The Influence of Somatoneurological Decompensations in the Course of Old-Age Depressive Disorders

The depressive type of reaction is the most widespread variant of response of an aged individual to any negative occurrences of either a biological or sociopsychological nature. In geriatric practice we observe first-time onset of depression in the elderly or a reoccurrence of depression that first appeared at an earlier age. During this age period the most different interrelationships between depressions and somatic pathology can be observed: Depressions can be concomitants of somatic pathology or pathogenetically connected with somatic diseases most often with pathology of nervous, cardiovascular, and endocrine systems and osteoarticular apparatus (somatogenic depressions). Psychogenic and medicamentous depressions can also exist [1-4]. Diagnosis of depressions in aged patients is more difficult than in young patients due to a high frequency of atypical manifestations of affective disorders, predominance of somatic complaints, and difficulties in
The role of alcoholism and liver disease in the appearance of serum antibodies against acetaldehyde adducts

We recently presented preliminary data indicating the presence of antibodies against acetaldehyde adducts in sera of over 70% of alcoholic patients. To assess the respective roles of liver disease and alcohol consumption as well as the specificity of this immune response, 141 patients in various stages of alcoholic and nonalcoholic liver diseases were tested by a hemagglutination assay. Sixty‐three (73%) of 86 alcoholics had antibody titers above control levels (p < 0.0001). Alcohol consumption of these individuals was significantly higher (p < 0.001) than that of those alcoholics with normal titers. Twentytwo patients (39%) with nonalcoholic liver diseases also had elevated levels of antibodies against acetaldehyde adducts (p < 0.0005); of these, 8 had primary biliary cirrhosis (7 in Stages III and IV), 9 had chronic active hepatitis (6 with cirrhosis) and 5 had acute (virus‐ or drug‐induced) hepatitis. Antibody titers did not correlate with levels of transaminase or alkaline phosphatase activity, nor with bilirubin, and albumin. However, in 52 alcoholics and in nonalcoholic patients with biopsy‐confirmed liver disease, the highest titers were seen in the more advanced stages of liver damage. Thus, in addition to alcohol consumption, severity of liver disease may play a role in the appearance of circulating antibodies against acetaldehyde adducts.
Bringing Transparency to Medicine: Exploring Physicians' Views and Experiences of the Sunshine Act

The Physician Payments Sunshine Act (PPSA) requires health care product manufacturers to report to the federal government payments more than $10 to physicians. Bringing unprecedented transparency to medicine, PPSA holds great potential for enabling medical stakeholders to manage conflicts of interest (COI) and build patient trust—crucial responsibilities of medical professionalism. The authors conducted six focus groups with 42 physicians in Chicago, IL, San Francisco, CA, and Washington, DC, to explore attitudes and experiences around PPSA. Participants valued the concept of transparency but were wary of the law's design and consequences. They downplayed PPSA's potential and felt it undermined public trust. Showing broad unawareness of COI, they dismissed the notion of industry influence and welcomed company “perks. ” Misapprehensions may leave physicians unprepared to advance the opportunities PPSA holds for professionalism. The authors offer recommendations for government and medicine to improve physicians' and other stakeholders' understandings and use of the data.
Polyunsaturated lecithin prevents acetaldehyde‐mediated hepatic collagen accumulation by stimulating collagenase activity in cultured lipocytes

We recently found that polyunsaturated lecithin prevents ethanol from causing cirrhosis in the baboon. Because transformation of lipocytes to transitional cells plays a key role in hepatic fibrogenesis in vivo, and because this process in alcohol‐fed baboons was found to be attenuated by polyunsaturated lecithin, we focused on lipocytes to study the mechanism of the protective effect. Rat lipocytes cultured on plastic undergo spontaneous activation, accompanied by expression of α‐smooth muscle actin isoform and production of substantial amounts of type I collagen. The latter was further increased on incubation with acetaldehyde. This in vitro model was used here to study how acetaldehyde‐mediated collagen production and accumulation can be turned off. Addition of polyunsaturated lecithin (10 μmol/L) was found to prevent the acetaldehyde‐induced increase in collagen accumulation by 83% (p < 0.001). By contrast, a saturated phospholipid (10 μmol/L dilauroyl phosphatidylcholine), a monounsaturated one (10 μmol/L linoleoylpalmitoyl phosphatidylcholine) or linoleic acid (20 μmol/L bound to albumin) had no such effect. Incorporation of [3H]proline into collagen and the expression of ä‐1 (I) procollagen mRNA were increased by acetaldehyde; the latter was not significantly affected by polyunsaturated lecithin. Polyunsaturated lecithin increased lipocyte collagenase activity by 100% (p < 0.001), whereas dilauroyl phosphatidylcholine, linoleoyl‐palmitoyl phosphatidylcholine and linoleic acid had no such action. We concluded that (a) polyunsaturated lecithin selectively prevents the acetaldehyde‐induced increase in collagen accumulation in lipocyte cultures, whereas other phospholipids or linoleate have no such effect; and (b) polyunsaturated lecithin does not modify the acetaldehydemediated increase in ä‐1 (I) procollagen mRNA, but it increases collagenase activity, suggesting that the protective effect exerted by polyunsaturated lecithin against alcohol induced fibrosis in vivo is due at least in part to stimulation of collagenase activity, which may prevent excess collagen accumulation by offsetting increased collagen production. (Hepatology 1992;15:373–381).
The effect of beclomethasone dipropionate in ultrafine particles on bronchial hyper‐reactivity in young children

Aim: Bronchial hyper‐reactivity (BHR) provides a tool for asthma diagnosis, assessment of severity and response to treatment. The effect of beclomethasone dipropionate in ultrafine particles (BDP‐HFA) on BHR as measured by the adenosine challenge test in young children has not yet been determined. Our aim was to determine the effect of BDP‐HFA (100 μg twice daily) on BHR as evaluated by a reduction of 20% from baseline FEV1 (PC20‐FEV1) values in young asthmatic children.
Staging and Prediction of Parturition in the Mare

Due to the relatively explosive nature of an equine delivery and the associated severe consequences, it is imperative that immediate assistance can be provided when complications occur. To be able to supply a certain level of care, it is important to be prepared and therefore to have a full understanding of the physiology and pathology of parturition. This article describes the three stages and physiology of parturition in addition to a variety of instruments that can be used to predict foaling in the mare. Different monitoring systems will be discussed as well as diagnostic tools and their applicability under physiological and pathological circumstances.
LIVER FAILURE AND LIVER DISEASE

Important progress has been made recently regarding the pathogenesis and treatment of hepatorenal syndrome (HRS). However, scant information exists about factors predicting outcome in patients with cirrhosis and HRS. Moreover, the prognostic value of the model of end-stage liver disease (MELD) score has not been validated in the setting of HRS. The current study was designed to assess the prognostic factors and outcome of patients with cirrhosis and HRS. The study included 105 consecutive patients with HRS. Forty-one patients had type 1 HRS, while 64 patients had type 2 HRS. Patients with type 1 HRS not only had more severe liver and renal failure than type 2 patients, they also had greater impairment of circulatory function, as indicated by lower arterial pressure and higher activation of vasoconstrictor factors. In the whole series, the median survival was 3.3 months. In a multivariate analysis of survival, only HRS type and MELD score were associated with an independent prognostic value. All patients with type 1 HRS had a high MELD score (>20) and showed an extremely poor outcome (median survival: 1 mo). By contrast, the survival of patients with type 2 HRS was longer and dependent on MELD score (>20, median survival 3 mo; <20, median survival 11 mo; P < .002). In conclusion, the outcome of patients with cirrhosis and HRS can be estimated by using two easily available variables, HRS type and MELD score. These data can be useful in the management of patients with HRS, particularly for patients who are candidates for liver transplantation. (HEPATOLOGY 2005;41:1282-1289.)
Comprehensive analyses of CD8+ T cell responses during longitudinal study of acute human hepatitis C

We comprehensively studied the cellular immune response during acute human hepatitis C virus (HCV) infection by monthly prospective sampling of persons at high risk of infection. In 19 of 23 subjects, interferon‐gamma–secreting T cells specific for 1 or more peptides spanning the entire HCV polyprotein were detected 1 to 3 months after infection. The median time to development of interferon gamma responses to HCV peptides was 33 days (range, 29‐50 days), and these responses peaked between 180 and 360 days. Nineteen subjects had sufficient follow‐up to determine outcome, with 15 (79%) developing persistent viremia and 4 (21%) clearing viremia spontaneously. Of those with progression to chronic infection and detectable T cell responses, all lost recognition of one or more antigens recognized during acute infection, and the median reduction in the magnitude of responses was 85%. Most significantly, despite ongoing viremia, those who had persistent infection did not develop new epitope specificities after the first 6 months of infection. In conclusion, in most individuals, the CD8+ T cell responses generated early in HCV infection decline in peripheral blood and are not replaced with new responses. Supplementary material for this article can be found on the HEPATOLOGY website (http://www.interscience.wiley.com/jpages/0270‐9139/suppmat/index.html). (HEPATOLOGY 2005;42:104–112.)
Non-small cell lung cancer in women: A distinct entity?

Aim: Lung cancer is one of the major causes of cancer-related deaths in both sexes and increasing worldwide. In many studies this increase in incidence and mortality was related to the sex, tumor type and clinical characteristics of the patients. The aim of this study was to evaluate the differences in clinical features and the prognostic factors in our female patients with NSCLC. Methods: We retrospectively analyzed the records of our 893 patients with non-small cell lung cancer (NSCLC) from 2005 to 2012. Of these, 773 were male (86.5%) and 120 were female (13.5%) patients. The data included demographic information, histologic classification, clinical staging, presenting symptoms and treatment modalities. Survival was estimated by using Kaplan–Meier method and prognostic factors were evaluated with log-rank and Cox regression tests. Results: The median age of the female patients was 60.6. The percent of the male and female patients that had a smoking history was 89.6% and 44.9%, respectively. Most common tumor type in female patients was adenocarcinoma (32.7%) and in male patients was squamos cell carcinoma (34.0%). The median survival time for female patients was 13.7 months and for the male patients it was 10.9 months (p>0.05). In univariate analysis, age, weight loss, combination therapy and PS correlated with a better OS for female patients. In multivariate analysis, only good PS showed consistency with survival for women. Conclusion: NSCLC in women is different in women as compared with men. Women are more likely to develop adenocarcinoma of the lung and have more favorable prognosis. A more through understanding of the NSCLC in women may lead to new treatment and prevention strategies.
Named Series : Diet , Inflammation and the Brain Calorie restriction dose-dependently abates lipopolysaccharide-induced fever , sickness behavior , and circulating interleukin-6 while increasing corticosterone

In mice a 50% calorie restriction (CR) for 28 days attenuates sickness behavior after lipopolysaccharide (LPS) and these mice demonstrate a central anti-inflammatory bias. This study examined the dose-dependent effect of CR on sickness behavior (fever, anorexia, cachexia) and peripheral immune markers postLPS. Male Sprague–Dawley rats fed ad libitum or CR by 50% for 14, 21, or 28 days were injected on day 15, 22, or 29 with 50 lg/kg of LPS or saline (1 mL/500 g). Changes in body temperature (Tb), locomotor activity, body weight, and food intake were determined. A separate cohort of rats was fed ad libitum or CR by 50% for 28 days and serum levels of corticosterone (CORT), interleukin 6 (IL-6), and IL-10 were determined at 0, 2, and 4 h post-LPS. The rats CR for 28 days demonstrated the largest attenuation of sickness behavior: no fever, limited reduction in locomotor activity, no anorexia, and reduced cachexia following LPS. Rats CR for 14 and 21 days demonstrated a partial attenuation of sickness behavior. Rats CR for 14 days demonstrated a larger increase in Tb, larger reduction in locomotor activity, and larger weight loss compared to rats CR for 21 days. Serum CORT was increased at 2 h post-LPS in ad libitum and CR groups; however it was two times larger in the CR animals. Levels of IL-6 were significantly attenuated at 2 h post-LPS in the CR animals. IL-10 levels were similar post-LPS. CR results in an enhanced antiinflammatory response in the form of increased CORT and diminished pro-inflammatory signals. 2014 Elsevier Inc. All rights reserved.
Efficacy and safety of emtricitabine/tenofovir alafenamide (FTC/TAF) vs. emtricitabine/tenofovir disoproxil fumarate (FTC/TDF) as a backbone for treatment of HIV-1 infection in virologically suppressed adults: subgroup analysis by third agent of a randomized, double-blind, active-controlled phase 3 

Background: FTC/TAF was shown to be noninferior to FTC/TDF with advantages in markers of renal and bone safety. Objective: To evaluate the efficacy and safety of switching to FTC/TAF from FTC/TDF by third agent (boosted protease inhibitor [PI] vs. unboosted third agent). Methods: We conducted a 48-week subgroup analysis based on third agent from a randomized, double blind study in virologically suppressed adults on a FTC/TDF-containing regimen who switched to FTC/TAF vs. continued FTC/TDF while remaining on the same third agent. Results: We randomized (1:1) 663 participants to either switch to FTC/TAF (N = 333) or continue FTC/TDF (N = 330), each with baseline third agent stratifying by class of third agent in the prior treatment regimen (boosted PI 46%, unboosted third agent 54%). At week 48, significant differences in renal biomarkers and bone mineral density were observed favoring FTC/TAF over FTC/TDF (p < 0.05 for all), with similar improvements in the FTC/TAF arm in those who received boosted PI vs. unboosted third agents. At week 48, virologic success rates were similar between treatment groups for those who received a boosted PI (FTC/TAF 92%, FTC/TDF 93%) and for those who received an unboosted third agent (97% vs. 93%). Conclusions: In virologically suppressed patients switching to FTC/TAF from FTC/TDF, high rates of virologic suppression were maintained, while renal and bone safety parameters improved, regardless of whether participants were receiving a boosted PI or an unboosted third agent. FTC/TAF offers safety advantages over FTC/TDF and can be an important option as an NRTI backbone given with a variety of third agents.
Hepatic gene expression during treatment with peginterferon and ribavirin: Identifying molecular pathways for treatment response

The reasons for hepatitis C treatment failure remain unknown but may be related to different host responses to therapy. In this study, we compared hepatic gene expression in patients prior to and during peginterferon and ribavirin therapy. In the on‐treatment group, patients received either ribavirin for 72 hours prior to peginterferon alpha‐2a injection or peginterferon alpha‐2a for 24 hours, prior to biopsy. The patients were grouped into rapid responders (RRs) with a greater than 2‐log drop and slow responders (SRs) with a less than 2‐log drop in hepatitis C virus RNA by week 4. Pretreatment biopsy specimens were obtained from a matched control group. The pretreatment patients were grouped as RRs or SRs on the basis of the subsequent treatment response. Gene expression profiling was performed with Affymetrix microarray technology. Known interferon‐stimulated genes (ISGs) were induced in treated patients. In the pretreatment group, future SRs had higher pretreatment ISG expression than RRs. On treatment, RRs and SRs had similar absolute ISG expression, but when it was corrected for the baseline expression with the pretreatment group, RRs showed a greater fold change in ISGs, whereas SRs showed a greater change in interferon (IFN)‐inhibitory pathways. The patients pretreated with ribavirin had heightened induction of IFN‐related genes and down‐regulation of genes involved in IFN inhibition and hepatic stellate cell activation. Conclusion: These data suggest that ISG inducibility is important for the treatment response and that ribavirin may improve outcomes by enhancing hepatic gene responses to peginterferon. Collectively, these mechanisms may provide a molecular basis for the improved efficacy of combination therapy. (HEPATOLOGY 2007.)