Miracle-dz/UniFAR-FTUs huggingface dataset:
Somatic Frameshift Mutations in the BAX Gene in Colon Cancers of the Microsatellite Mutator Phenotype

Cancers of the microsatellite mutator phenotype (MMP) show exaggerated genomic instability at simple repeat sequences. More than 50 percent (21 out of 41) of human MMP+ colon adenocarcinomas examined were found to have frameshift mutations in a tract of eight deoxyguanosines [(G)8] within BAX, a gene that promotes apoptosis. These mutations were absent in MMP− tumors and were significantly less frequent in (G)8 repeats from other genes. Frameshift mutations were present in both BAX alleles in some MMP+ colon tumor cell lines and in primary tumors. These results suggest that inactivating BAX mutations are selected for during the progression of colorectal MMP+ tumors and that the wild-type BAX gene plays a suppressor role in a p53-independent pathway for colorectal carcinogenesis.
The fetal lung 1: developmental aspects

A literature survey is presented on normal fetal development during the embryonic, pseudoglandular, canalicular, saccular and alveolar stages in the human fetus. Normal anatomical and physiological aspects of fetal lung development including the fetal pulmonary circulation are described. Factors which may influence fetal lung growth and consequently may play a role in the development of pulmonary hypoplasia are discussed, such as intrauterine and intrathoracic space, lung fluid, fetal breathing movements, normal balance of volume and pressure in the lung and interference with the blood supply. Copyright © 2000 International Society of Ultrasound in Obstetrics and Gynecology
Effect of Cholecalciferol Supplementation on Vitamin D Status and Cathelicidin Levels in Sepsis: A Randomized, Placebo-Controlled Trial

Objectives:To compare changes in vitamin D status and cathelicidin (LL-37) levels in septic ICU patients treated with placebo versus cholecalciferol. Design:Randomized, placebo-controlled, trial. Setting:Medical and surgical ICUs of a single teaching hospital in Boston, MA. Patients:Thirty adult ICU patients. Interventions:Placebo (n = 10) versus 200,000 IU cholecalciferol (n = 10) versus 400,000 IU cholecalciferol (n = 10), within 24 hours of new-onset severe sepsis or septic shock. Measurements and Main Results:Blood samples were obtained at baseline (day 1) and on days 3, 5, and 7, to assess total 25-hydroxyvitamin D, as well as vitamin D–binding protein and albumin to calculate bioavailable 25-hydroxyvitamin D. Plasma LL-37 and high-sensitivity C-reactive protein levels were also measured. At baseline, median (interquartile range) plasma 25-hydroxyvitamin D was 17 ng/mL (13–22 ng/mL) and peaked by day 5 in both intervention groups. Groups were compared using Kruskal-Wallis tests. Relative to baseline, on day 5, median change in biomarkers for placebo, 200,000 IU cholecalciferol, and 400,000 IU cholecalciferol groups, respectively, were as follows: 1) total 25-hydroxyvitamin D, 3% (–3% to 8%), 49% (30–82%), and 69% (55–106%) (p < 0.001); 2) bioavailable 25-hydroxyvitamin D, 4% (–8% to 7%), 45% (40–70%), and 96% (58–136%) (p < 0.01); and 3) LL-37: –17% (–9% to –23%), 4% (–10% to 14%), and 30% (23–48%) (p = 0.04). Change in high-sensitivity C-reactive protein levels did not differ between groups. A positive correlation was observed between bioavailable 25-hydroxyvitamin D and LL-37 (Spearman &rgr; = 0.44; p = 0.03) but not for total 25-hydroxyvitamin D and LL-37. Conclusions:High-dose cholecalciferol supplementation rapidly and safely improves 25-hydroxyvitamin D and bioavailable 25-hydroxyvitamin D levels in patients with severe sepsis or septic shock. Changes in bioavailable 25-hydroxyvitamin D are associated with concomitant increases in circulating LL-37 levels. Larger trials are needed to verify these findings and to assess whether optimizing vitamin D status improves sepsis-related clinical outcomes.
Holocord Hydrosyringomyelia with Terminal Myelocystocele Revealed by Constructive Interference in Steady-State MR Imaging

We report an operated case with terminal myelocystocele and holocord hydrosyringomyelia (syrinx). The patient exhibited a subcutaneous mass at the right lumbosacral region with multiple anomalies including scoliosis and hyperdactylia of the right foot and systemic disease such as hydronephroureter. Neurological examination revealed palsy of the left diaphragm, and left upper and right lower limbs. Constructive interference in steady-state (CISS) images demonstrated a terminal myelocystocele with a huge syrinx extending to the medulla. The curvilinear reconstruction of the CISS sequence depicted continuous cystocele and whole syrinx. At day 37, sac excision and untethering of the spinal cord were performed. The caudal part of the central canal was opened to the subarachnoid space (terminal ventriculostomy), resulting in a slight improvement of limb palsy and shrinkage of the holocord syrinx. CISS imaging is useful to detect the complicated pathology, and terminal ventriculostomy should be performed to improve associated syrinx.
Effects of selenium and vitamin E administration during a late stage of pregnancy on colostrum and milk production in dairy cows, and on passive immunity and growth of their offspring.

OBJECTIVE To determine effects of selenium (Se) and vitamin E (VE) administration in late pregnancy on Se status, plasma immunoglobulin concentrations, and colostrum and milk production of dairy cows, and on Se status, passive immunity, and growth of their offspring. ANIMALS 25 Holstein cows and their offspring. PROCEDURE 3 and 1.5 weeks before calving, sodium selenite (5 mg/100 kg of body weight) and d,l-alpha-tocopheryl acetate (25 IU/100 kg) were administered to 13 cows. The other 12 cows were not treated. Se status was assessed by measurement of glutathione peroxidase activity of erythrocytes (GSH-Px-E). RESULTS The 13 treated cows had higher (P < 0.01) GSH-Px-E values at calving and during the first 12 weeks of lactation. Changes in plasma immunoglobulin concentrations before or after calving did not differ between the 2 groups of cows. During the first 36 hours after calving (4 milkings), treated cows produced 22% more colostrum than did their nontreated counterparts (P < 0.005). Percentages of colostral immunoglobulins did not differ between the 2 groups. During the first 12 weeks of lactation, treated cows produced 10% more milk than did nontreated cows (P < 0.005). GSH-Px-E values at birth and 28 days of life were significantly higher in calves from treated cows. Plasma immunoglobulin concentrations and body weight during the first 56 days after birth did not differ between calves born to treated or nontreated cows. CONCLUSIONS AND CLINICAL RELEVANCE Cows given Se and VE in late pregnancy produce large quantities of colostrum and milk. Colostrum produced from cows given Se and VE is suitable to feed newborn calves and to be stored for later use. Improvement of Se status in calves born to cows given Se and VE in late pregnancy is not beneficial to passive immunity and growth.
Characterization of visceral and subcutaneous adipose tissue transcriptome in pregnant women with and without spontaneous labor at term: implication of alternative splicing in the metabolic adaptations of adipose tissue to parturition

Abstract Objective: The aim of this study was to determine gene expression and splicing changes associated with parturition and regions (visceral vs. subcutaneous) of the adipose tissue of pregnant women. Study design: The transcriptome of visceral and abdominal subcutaneous adipose tissue from pregnant women at term with (n=15) and without (n=25) spontaneous labor was profiled with the Affymetrix GeneChip Human Exon 1.0 ST array. Overall gene expression changes and the differential exon usage rate were compared between patient groups (unpaired analyses) and adipose tissue regions (paired analyses). Selected genes were tested by quantitative reverse transcription-polymerase chain reaction. Results: Four hundred and eighty-two genes were differentially expressed between visceral and subcutaneous fat of pregnant women with spontaneous labor at term (q-value <0.1; fold change >1.5). Biological processes enriched in this comparison included tissue and vasculature development as well as inflammatory and metabolic pathways. Differential splicing was found for 42 genes [q-value <0.1; differences in Finding Isoforms using Robust Multichip Analysis scores >2] between adipose tissue regions of women not in labor. Differential exon usage associated with parturition was found for three genes (LIMS1, HSPA5, and GSTK1) in subcutaneous tissues. Conclusion: We show for the first time evidence of implication of mRNA splicing and processing machinery in the subcutaneous adipose tissue of women in labor compared to those without labor.
The Composition of the Negative Syndrome of Chronic Schizophrenia

The clinical features of patients who satisfy a variety of criteria for the negative syndrome can be arranged in five groups of phenomena: (a) poverty of thought and speech, (b) blunted affect, (c) decreased motor activity, (d) apathy and avolition, and (e) diminished interpersonal interaction. We have shown that depressed mood and depressive cognition are not related to the negative syndrome, but there is some overlap between the specific phenomena of depressive illness and negative symptoms in schizophrenia. Items measuring cognitive impairment have a moderate correlation with the negative syndrome, but the negative syndrome accounts for less than half of the variance of cognitive performance. These items that define the negative syndrome can be as reliably measured as depressive and positive symptoms.
Intraoperative ketorolac and posttonsillectomy bleeding.

OBJECTIVE To determine the occurrence of posttonsillectomy bleeding in patients who received intraoperative ketorolac tromethamine. DESIGN Retrospective analysis. SETTING Academic tertiary care center. PATIENTS Three hundred eleven patients who underwent tonsillectomy in an 18-month period. MAIN OUTCOME MEASURE Occurrence of bleeding complications in patients who received ketorolac during tonsillectomy. RESULTS Fifty-eight of 311 patients who underwent tonsillectomy received intraoperative ketorolac with an overall postoperative bleeding rate of 17%. This high rate of bleeding complications compares with 4.4% in the remaining 253 patients who received traditional opioid analgesics. CONCLUSIONS Until further controlled studies have been conducted, the use of ketorolac in patients undergoing tonsillectomy should be avoided because of the increased incidence of postoperative bleeding complications.
Fatores institucionais e desempenho acadêmico no ENADE : um estudo sobre os cursos de Biologia, Engenharia Civil, História e Pedagogia

Resumo: Este estudo analisa influencias de fatores institucionais sobre o rendimento de estudantes concluintes de Biologia, Engenharia Civil, Historia e Pedagogia no Exame Nacional de Desempenho de Estudantes (Enade) em 2005. Considerou-se a hipotese de que, controladas as variaveis individuais e socioeconomicas, caracteristicas institucionais – instalacoes fisicas, equipamentos, laboratorios, biblioteca, espaco pedagogico, titulacao docente e nivel de exigencia do curso – das instituicoes de ensino superior influenciam o desempenho dos estudantes no Enade. Foram utilizados dois modelos de analise: regressao multipla e arvore de classificacao. Verificou-se que a influencia dos fatores institucionais e heterogenea, variando conforme a categoria administrativa e a organizacao academica da instituicao de ensino superior.
Advanced phases and reduced amplitudes are suggested to characterize the daily rest-activity cycles in depressed adolescent boys

Abstract Self-reported eveningness has been previously associated with depressed mood among adults and adolescents. Here, we study how circadian indicators based on actigraphic data differ between depressed and healthy adolescent boys. Our sample consisted of 17 medication-free adolescent boys, aged 14.5 to 17.5 years, of which eight had depressive disorder and were currently depressed and nine were healthy comparison participants. Psychiatric assessment was conducted by diagnostic interviews and complemented with observer-rating and self-rating scales. Actigraphic data were collected with wrist actigraphs for a minimum period of 25 consecutive days (range of 25 to 44 days). The behavioral trait of morningness–eveningness was measured with the 19-item Horne-Östberg Morningness–Eveningness Questionnaire. Based on the self-report, the depressed boys were more prone to eveningness than healthy controls, but based on the actigraphic data, they had earlier phases especially on school days and lower activity levels especially on weekends. On weekends, the depressed boys showed a greater shift toward later-timed phases than healthy controls. Our results confirm a mismatch of the subjective morningness–eveningness preference (late-preference) and the objective rest-activity rhythm (early-prone) during school days in depressed adolescent boys.
Comparison of six different criteria for judging the acceptability of sputum specimens

A series of 391 unselected expectorated sputum specimens was examined microscopically, and six different published criteria for judging the acceptability of the specimens were applied. Of the 391 specimens, 234 were found to be acceptable or unacceptable by all six criteria; 157 specimens were discrepant. By the criteria of Murray and Washington and of Barry, 25 and 23% of the specimens, respectively, were rejected; only 19 of 143 specimens which contained potential pathogens as part of their predominant microbial flora were rejected by both sets of criteria. The criteria described by Geckler et al. and Bartlett missed fewer potential pathogens; only 9 or 17% of the specimens, respectively, were found unacceptable. The criteria of Heineman and Radano and of Van Scoy resulted in the greatest percentages of specimens judged unacceptable (28 and 29%, respectively), including 19 and 24% of specimens containing potential pathogens. The reproducibility of sputum screening results was also assessed, comparing the method of Murray and Washington with that of Barry. Six separate slides were prepared from each of 45 different specimens: three samples with purulent or bloody flecks and three samples in which the specimens had been mixed with an applicator swab. Satisfactory reproducibility was observed with both criteria and both sampling methods; no significant differences in reproducibility could be documented in this limited series.
Plant-Based Beverages as Good Sources of Free and Glycosidic Plant Sterols

To address the ever-growing group of health-conscious consumers, more and more nutritional and health claims are being used on food products. Nevertheless, only very few food constituents, including plant sterols, have been appointed an approved health claim (European Commission and Food and Drugs Administration). Plant sterols are part of those limited lists of approved compounds for their cholesterol-lowering properties but have been praised for their anti-inflammatory and anti-carcinogenic properties as well. Despite this indisputable reputation, direct quantitative data is still lacking for naturally present (conjugated) plant sterols in beverages. This study aimed to fill this gap by applying a validated extraction and UPLC-MS/MS detection method to a diverse range of everyday plant-based beverages. β-sitosterol-β-d-glucoside (BSSG) showed to be by far the most abundant sterol in all beverages studied, with concentrations up to 60–90 mg per 100 mL in plant-based milk alternatives and fresh fruit juices. Ergosterol (provitamin D2) could be found in beers (0.8–6.1 µg per 100 mL, from the yeast) and occasionally in juices (17–29 µg per 100 mL). Overall, the results demonstrated that the concentrations of water-soluble sterol conjugates have been underestimated significantly and that specific plant-based beverages can be good, low-fat sources of these plant sterols.
Evaluation of ultrasound for assessing facial lipoatrophy in a randomized, placebo-controlled trial

We investigated the utility of ultrasonography for assessing facial lipoatrophy changes in HIV-infected adults receiving antiretroviral therapy who participated in a 48-week, randomized, placebo-controlled trial of rosiglitazone. Ultrasound was performed at weeks 0, 24 and 48 to determine the subcutaneous fat thickness over the malar bone. Changes in facial fat assessed by ultrasonography did not correlate significantly with more established objective measures of lipoatrophy severity. The measurement of malar fat using ultrasonography is not recommended.
A Case of Severe Hypercalcaemia of Infancy with an Account of the Neuropathological Findings

Hypercalcaemia of infancy has been divided into severe and simple or benign forms, each with distinct clinical pictures. However, Joseph and Parrott (1958) considered that the two forms were different degrees of severity of the same disease. Forfar, Tompsett and Forshall (1959) thought that the severe form, which tends to be recognized later in infancy, was the result of delay in diagnosis. The severe form, which according to Fellers and Schwartz (1958) is 14 times less common than the simple form, was first described by Fanconi, Girardet, Schlesinger, Butler and Black (1952). Amongst its multiple symptoms and signs are dwarfism, mental retardation, persistent hypercalcaemia, hypercholesterolaemia, osteosclerosis and evidence of renal disturbance with albuminuria and nitrogen retention. The prognosis is poor. By contrast, the simple form first described by Lightwood (1952) is unassociated with mental deficiency and osteosclerosis and has a good prognosis. Several workers have described the visceral changes, particularly renal, in severe hypercalcaemia, but neuropathological findings have not been hitherto reported. The object of this communication is to record a case which came to autopsy and had a full pathological examination.
Occupational immunologic contact urticaria from pine processionary caterpillar (Thaumetopoea pityocampa): experience in 30 cases

Cutaneous lesions caused by the pine processionary caterpillar Thaumetopoea pityocampa (TP) are frequent in pinewood areas. In the present study, 30 patients diagnosed with occupational immunologic urticaria from this caterpillar were included. Immediate hypersensitivity was demonstrated by performing prick and IgE‐immunoblotting tests. Workers were grouped according to their common tasks. Occupations at risk of exposure to TP were pine‐cone collectors/woodcutters (14), farmers/stockbreeders (8), other forestry personnel (4), construction workers (2), residential gardeners ( 1 ) and entomologists ( 1 ). Besides contact urticaria, angioedema (60%), papular lesions of several days of evolution (30%) and anaphylactic reactions (40%) were also detected. The most frequently detected molecular weight bands by immunoblot were 15 (70%), 17 (57%) and 13 kDa (50%). The appearance of isolated bands corresponds with the least serious cases. Only 8 subjects had bands higher than 33 kDa, which was present in the 3 most severe cases of anaphylactic reactions. By presenting these cases, we wish to offer the largest series reported so far of occupational immunologic contact urticaria caused by TP. We include the first cases described in certain occupations, some of them not directly related to forestry work. Pine‐cone or resin collectors, woodcutters, farmers and stockbreeders were the most frequently and severely affected workers.
Protective Strategies of Mothers Abused by Intimate Partners: Rethinking the Deficit Model

Exposure to intimate partner violence is detrimental to children, but can abused mothers protect them, and, if so, what can they do? This study of 350 Canadian abused women represents the first quantitative examination of such protective strategies. The actions that mothers most commonly used and perceived as effective include showing affection and being nurturing to their children. The strategies often suggested by professionals, such as contacting police and obtaining protection orders, were used less and considered less effective than informal strategies. Professionals are urged to ask mothers what strategies they use, especially those who do not involve formal systems.
Reference intervals for plasma cystatin C in healthy volunteers and renal patients, as measured by the Dade Behring BN II System, and correlation with creatinine.

Cystatin C (cysC) is a 132-amino acid, 13-kDa cysteine protease inhibitor produced by all nucleated cells and whose function is thought to be modulation of the intracellular catabolism of proteins (1). It is formed at a constant rate, freely filtered by the renal glomeruli, and completely reabsorbed and catabolized by the proximal tubular cells (1)(2)(3)(4)(5). Plasma cysC values are reported to be unaffected by age, body weight, diet, medications, or pathologies such as inflammation and cancer. On the basis of these favorable characteristics, cysC has been proposed as a marker of glomerular filtration rate (3)(4)(5)(6). Serum creatinine (creatinine) is widely used for estimation of the glomerular filtration rate, but its tubular secretion, dependence on muscle mass, alteration in some inflammatory diseases, and analytical interferences can limit its utility (7)(8)(9)(10). Thus, cysC has been proposed as an alternative marker in some settings (3)(4)(9)(11)(12). The purpose of this study was to evaluate the analytical and clinical performance characteristics of a new cysC assay and to establish adult reference intervals for cysC. One hundred thirty-nine presumably healthy adult volunteers participated in the study (age >18 years; 78 females and 61 males) by donating a plasma specimen for creatinine and cysC measurements. Volunteers were recruited with posted signs around our medical center and were offered $25.00 compensation. All volunteers filled …
Development of a Loop-Mediated Isothermal Amplification Assay for Rapid Detection of Capripoxviruses

ABSTRACT Sheep pox (SP), goat pox (GP), and lumpy skin disease (LSD), caused by capripoxviruses (CaPVs), are economically important diseases of sheep, goats, and cattle, respectively. Here, we report the development of a loop-mediated isothermal amplification (LAMP) assay for rapid detection of CaPVs. LAMP primers were designed to target a conserved gene encoding the poly(A) polymerase small subunit (VP39) of CaPVs. Hydroxynaphthol blue (HNB) was incorporated to monitor assay progress by color change from violet when negative to sky blue when positive, and results were verified by agarose gel electrophoresis. The LAMP assay was shown to be highly specific for CaPVs, with no apparent cross-reactivity to other related viruses (near neighbors) or viruses that cause similar clinical signs (look-a-like viruses). The performance of LAMP was compared to that of a highly sensitive quantitative real-time PCR (qPCR) assay. LAMP and qPCR exhibited similar analytical sensitivities, with limits of detection of 3 and 8 viral genome copies, respectively. Diagnostic specificity was assessed on 36 negative specimens, including swabs and EDTA blood from control sheep, goats, and cattle. Diagnostic sensitivity was assessed on 275 specimens, including EDTA blood, swabs, and tissues from experimentally infected sheep, goats, and cattle. Overall agreement on diagnostic test results between the two assays was 90 to 95% for specificity and 89 to 100% for sensitivity. The LAMP assay described in this report is simple to use, inexpensive, highly sensitive, and particularly well suited for the diagnosis of capripox in less well equipped laboratories and in rural settings where resources are limited.