Miracle-dz/UniFAR-FTUs huggingface dataset:
Rescue from the effects of trisomy 13q32→qter owing to skewed X inactivation in a der(X)t(X;13)(p21;q32) carrier

Editor—X;autosome translocations are very rare and occur at an estimated frequency of 1:300 000.1According to the hypothesis of Lyon,2 there is a random and irreversible inactivation of one of the two X chromosomes in the female, occurring at an early stage of development. In patients with an X;autosome translocation, X inactivation occurs at random but is followed by cellular selection, favouring the better genetic balance.3 Accordingly, nearly 95% of patients with balanced X;autosome translocations show a skewed inactivation of the normal X chromosome in almost all cells, thereby avoiding somatic monosomy or X chromosome disomy, while patients with unbalanced X;autosome translocations have the der(X) constantly inactivated in 91% of the cases in order to obtain the most optimal balance of the genome.1 We report here a woman who was referred for chromosome analysis because of four consecutive first trimester spontaneous miscarriages following the birth of a healthy daughter. The patient is short (152 cm), but otherwise healthy, with no dysmorphic features or malformations. Chromosome analysis of peripheral blood showed an apparently pure Xp deletion using conventional banding techniques. Chromosome microdissection of the aberrant Xp was performed according to Senger et al ,4using an inverted phase contrast microscope (Axiovert 135) and a micromanipulator (Narishige MMO-2YD). Six fragments containing the whole aberrant Xp were excised and transferred to a 10 nl collection drop containing 10 mmol/l TRIS-HCl, pH 7.5, 10 mmol/l NaCl, 0.1% SDS, and 0.5 mg/ml proteinase K. After digestion with proteinase K, the collection drop was transferred to a 250 μl reaction tube containing 5 μl of PCR mixture: 5 μmol/l 6-MW-primer - …
Redefining the p53 response element

The tumor suppressor p53 is a master transcriptional regulator that affects a diverse range of cellular events. Surprisingly, even with >100 validated p53 response element (RE) sequences available, the effect of p53 binding on transcriptional behavior is seldom predictable and no functional rules have been described. Here, we report a systematic study on the role of specific nucleotides within the p53RE by using p21, a well-known target for p53 activation and contrasting it with Lasp1, a gene recently identified to be repressed by p53. Functional assays revealed a specific dinucleotide core combination within the CWWG motif of the p53RE to be the key factor that determines whether p53 transcriptionally activates or represses a target gene. The triplet RRR and YYY sequences flanking the core CWWG motif were also shown to play an important role in modulating the transcriptional behavior of p53. With the establishment of a set of predictive rules, we were able to reassess 162 published p53REs and showed that the attributed function for 20/162 p53REs studied were in fact erroneous. A significant proportion of p53REs (39/162) were found to be repressive, which is substantially higher than what is currently thought. Hence this clearer definition of the transcriptional behavior of p53 interaction with its RE will provide better insight toward the understanding of its fundamental role in cellular networks.
Caspase 3a: new prognostic marker for diffuse large B-cell lymphoma in the rituximab era

Fewer than half of patients with diffuse large B-cell lymphoma (DLBCL) can be cured. Molecular prognostic factors in the rituximab era must be re-evaluated, because there are few molecular indicators with prognostic value. Samples of DLBCL from 41 newly diagnosed patients with a median follow-up of 52 months were studied. Immunohistochemical staining was performed to investigate the expression of apoptosis-related proteins (Bcl-2 and caspase 3a), cell proliferation (Ki-67), and tumor microenvironmental factors. Two groups were analysed, 23 cases (56%) treated with CHOP and 18 (44%) treated with R-CHOP. Survival analysis showed that cases with overexpression of Bcl-2 had worse overall survival (OS) in the CHOP group. However, OS in the R-CHOP group was adversely affected by lack of caspase 3a staining. In the entire series, cases positive for caspase 3a showed significantly better OS, without significance for other parameters, and caspase 3 was associated with parameters of prognosis and OS in R-CHOP. This is the first study that relates caspase 3a and prognosis in DLBCL.
Lack of ecto-5'-nucleotidase (CD73) promotes arteriogenesis.

AIMS Adenosine can stimulate angiogenesis, but its role in the distinct process of arteriogenesis is unknown. We have previously reported that mice lacking ecto-5'-nucleotidase (CD73-/-) show enhanced monocyte adhesion to the endothelium after ischaemia, which is considered to be an important trigger for arteriogenesis. METHODS AND RESULTS Hindlimb ischaemia was induced in wild-type (WT) and CD73-/- mice to study the role of extracellularly formed adenosine in arteriogenesis. Magnetic resonance angiography (MRA) was performed for serial visualization of newly developed vessels at a spatial resolution of 1 nL, and high-energy phosphates (HEP) were quantified by (31)P MR spectroscopy (MRS). MRA of CD73-/- mice revealed substantially enhanced collateral artery conductance at day 7 [CD73-/-: 0.73 ± 0.11 a.u. (arbitrary units); WT: 0.44 ± 0.13 a.u. ; P < 0.01, n = 6], and MRS of the affected hindlimb showed a faster restoration of HEP in correlation with enhanced functional recovery in the mutant. Additionally, histology showed no differences in capillary density between the groups but showed an increased monocyte infiltration in hindlimbs of CD73-/- mice. CONCLUSION Serial assessment of dynamic changes of vessel growth and metabolism in the process of arteriogenesis demonstrate that the lack of CD73-derived adenosine importantly promotes arteriogenesis but does not alter angiogenesis in our model of hindlimb ischaemia.
Variation in Performance of Neonatal Intensive Care Units in the United States

Importance Hospitals use rates from the best quartile or decile as benchmarks for quality improvement aims, but to what extent these aims are achievable is uncertain. Objective To determine the proportion of neonatal intensive care units (NICUs) in 2014 that achieved rates for death and major morbidities as low as the shrunken adjusted rates from the best quartile and decile in 2005 and the time it took to achieve those rates. Design, Setting, and Participants A total of 408 164 infants with a birth weight of 501 to 1500 g born from January 1, 2005, to December 31, 2014, and cared for at 756 Vermont Oxford Network member NICUs in the United States were evaluated. Logistic regression models with empirical Bayes factors were used to estimate standardized morbidity ratios for each NICU. Each ratio was multiplied by the overall network rate to calculate the 10th, 25th, 50th, 75th, and 90th percentiles of the shrunken adjusted rates for each year. The proportion in 2014 that achieved the 10th and 25th percentile rates from 2005 and the number of years it took for 75% of NICUs to achieve the 2005 rates from the best quartile were estimated. Main Outcomes and Measures Death prior to hospital discharge, infection more than 3 days after birth, severe retinopathy of prematurity, severe intraventricular hemorrhage, necrotizing enterocolitis, and chronic lung disease among infants less than 33 weeks’ gestational age at birth. Results Of the 756 hospitals, 695 provided data for 2014. The mean unadjusted infant-level rate of death before hospital discharge decreased from 14.0% in 2005 to 10.9% in 2014. In 2014, 689 of 695 NICUs (99.1%; 95% CI, 97.4%-100.0%) achieved the 2005 shrunken adjusted rates from the best quartile for death prior to discharge, 678 of 695 (97.6%; 95% CI, 95.8%-99.6%) for late-onset infection, 558 of 681 (81.9%; 95% CI, 77.2%-86.6%) for severe retinopathy of prematurity, 611 of 693 (88.2%; 95% CI, 81.7%-97.0%) for severe intraventricular hemorrhage, 529 of 696 (76.0%; 95% CI, 71.8%-81.2%) for necrotizing enterocolitis, and 286 of 693 (41.3%; 95% CI, 36.1%-45.6%) for chronic lung disease. It took 3 years before 445 NICUs (75.0%) achieved the 2005 shrunken adjusted rate from the best quartile for death prior to discharge, 5 years to achieve the rate from the best quartile for late-onset infection, 6 years to achieve the rate from the best quartile for severe retinopathy of prematurity and severe intraventricular hemorrhage, and 8 years to achieve the rate from the best quartile for necrotizing enterocolitis. Conclusions and Relevance From 2005 to 2014, rates of death prior to discharge and serious morbidities decreased among the NICUs in this study. Within 8 years, 75% of NICUs achieved rates of performance from the best quartile of the 2005 benchmark for all outcomes except chronic lung disease. These findings provide a novel way to quantify the magnitude and pace of improvement in neonatology.
Lycopene and risk of cardiovascular diseases: A meta-analysis of observational studies.

SCOPE The aim of current meta-analysis was to investigate the relation between lycopene and risk of cardiovascular diseases (CVD). METHODS AND RESULTS Studies concerning about the association between lycopene and risk of CVD were searched on Pubmed, Embase, and Web of Science from inception to October 2016. A total of 14 eligible studies were identified. A significantly inverse association with a pooled risk ratio (RR) of 0.83 (95% CI: 0.76-0.90) was shown between lycopene exposure and risk of CVD. Findings were similar restricting to dietary studies (RR = 0.87, 95% CI = 0.79-0.96) and biomarker studies (RR = 0.74, 95% CI = 0. 62-0.87). Dietary lycopene intake was statistically significant for coronary heart disease (CHD) (RR: 0.87; 95% CI: 0.76-0.98) and stroke (RR: 0.83; 95% CI: 0.69-0.96). The pooled risk estimate was generally similar for lycopene biomarker concentrations, but the association was only statistically significant for stroke (RR: 0.65; 95% CI: 0.42-0.87). Subgroup analyses showed that retrospective and low quality studies were statistically significant sources of heterogeneity. CONCLUSION Higher lycopene exposure is inversely associated with a lower risk of CVD. Further well-designed randomized clinical trials are required to assess the role of lycopene on CVD.
Clinical utility of the Rey 15-Item Test, recognition trial, and error scores for detecting noncredible neuropsychological performance in a mixed clinical sample of veterans

Abstract Objective: This cross-sectional study examined the Rey 15-Item Test (RFIT), Recognition Trial, and Error Scores for identifying noncredible performance in a mixed clinical veteran sample compared to another widely used validity measure, the Test of Memory Malingering (TOMM). Method: Sixty-two veterans who completed the RFIT (Recall/Recognition Trials), TOMM, and Word Memory Test (WMT) during clinical evaluation were included. Using the WMT as the criterion, 71% (N = 44) were classified as valid and 29% (N = 18) as invalid. Results: Among valid participants, 25% failed the RFIT Recall, whereas 78% of invalid participants passed (sensitivity: 22%; specificity: 75%; diagnostic odds ratio [DOR]: .86). The Recognition Trial increased sensitivity to 39% for identifying invalid performance, but 25% of valid participants still scored below cut-off (specificity: 75%; DOR: 1.91). RFIT Recall and Recognition Trial logistic regression and receiver operating characteristic (ROC) analyses were nonsignificant, with respective classification accuracies of 71 and 72.6% and areas under the curve (AUCs) of . 52 and . 55. RFIT Error Scores also failed to differentiate validity groups. In contrast, TOMM had stronger psychometric properties (sensitivity: 50%; specificity: 97.7%; DOR: 43; classification accuracy: 82.3%; AUC: .91). Moreover, RFIT Recall and Recognition failure rates were 14 and 22% greater, respectively, among those with cognitive impairment, whereas 95% of those with impairment and 100% without passed the TOMM. Conclusion: Despite frequent use among VA neuropsychologists, the RFIT displayed limited ability to detect noncredible performance and misclassified a large percentage of valid participants in this mixed clinical veteran sample, suggesting limited utility with this population.
Impact of the Doppler effect on the capacity of massive MIMO uplink systems: OFDM versus FBMC/OQAM

This paper studies the impact of the Doppler effect on the capacity of an uplink communication between one or several user(s) with mobility and a base station. The OFDM and the FBMC/OQAM modulations are investigated. Moreover, massive MIMO techniques are used at the receiver side to increase the SINR and to allow for simultaneous multiuser communications. An analytic study is carried out to highlight the impact of the Doppler effect on the achievable rate of this system and to bring out benefits and drawbacks of both modulations. On the one hand, the OFDM modulation presents a loss of spectral efficiency because of its cyclic prefix and a limited robustness against the Doppler effect. On the other hand, the FBMC/OQAM performance is restricted by its intrinsic interference due to the frequency selectivity of the channel. These two modulations are compared under different mobility scenarios and the ability of the FBMC/OQAM modulation to significantly increase the achievable rate per user compared to the OFDM modulation is highlighted, especially for high speed scenarios.
"Patient knows best"-detection of common mental disorders in Santiago, Chile: cross sectional study.

# “Patient knows best”—detection of common mental disorders in Santiago, Chile: cross sectional study {#article-title-2} Depression and anxiety are common in primary care but about half of patients with these disorders are not identified by primary care physicians. 1 2 Mental disorder is more likely to be diagnosed in patients who present with or attribute physical symptoms to psychological causes.2–4 We investigated how patients' ways of understanding their health problems influenced the detection of common mental disorder by primary care physicians in Santiago, Chile. We studied 815 consecutive patients seen by 11 primary care physicians from five randomly selected clinics in northern Santiago, Chile. Patients with a chronic illness or patients aged over 50 were excluded because these patients are better known by doctors. Most doctors in Chile and in this study have less than four years' experience in primary care. Before the patient saw the doctor, a lay interviewer asked the patient's reason for consultation and whether it was because of a physical or psychological problem. The interviewer inquired about other potential confounders: physical illness, disability, common somatic symptoms, and whether patients tended to interpret common somatic symptoms by using psychological, physical, or normalising explanations. A psychiatrist administered the clinical interview schedule—revised, and patients scoring 12 or more were classified as having a common mental disorder.5 After the patient had seen the primary care physician, the doctor rated blindly whether the patient had a mental disorder using a five-point scale. Patients with a rating of “mild or greater” severity were considered to have a mental disorder. The prevalence of mental disorders was 49% (396 of 802; 95% confidence interval 46% to 53%) according to the clinical interview schedule—revised and 35% …
Ultrastructural features of the distended pulmonary arteries of the normal rat

Detailed study has been made of the structure of the normal pulmonary artery of rat by both light (1‐μ sections) and electron microscopy. After tying the pulmonary veins at the hilum, the lungs were fixed by simultaneous injection of glutaraldehyde into the pulmonary trunk and trachea. Study of distended arteries allows precise measurement and assessment of normal lung structure.
Probability Distribution of Philippine Daily Rainfall Data

Philippines as an archipelago and tropical country, which is situated near the Pacific ocean, faces uncertain rainfall intensities. This makes environmental, agricultural and economic systems affected by precipitation difficult to manage. Time series analysis of Philippine rainfall pattern has been previously done, but there is no study investigating its probability distribution. Modeling the Philippine rainfall using probability distributions is essential, especially in managing risks and designing insurance products. Here, daily and cumulative rainfall data (January 1961 August 2016) from 28 PAGASA weather stations are fitted to probability distributions. Moreover, the fitted distributions are examined for invariance under subsets of the rainfall data set. We observe that the Gamma distribution is a suitable fit for the daily up to the ten-day cumulative rainfall data. Our results can be used in agriculture, especially in forecasting claims in weather index-based insurance.
Human epidermal growth factor receptor 2/neu protein expression in meningiomas: An immunohistochemical study

Background: Meningiomas are common slow-growing primary central nervous system tumors that arise from the meningothelial cells of the arachnoid and spinal cord. Human epidermal growth factor receptor 2 (HER2) or HER2/neu (also known as c-erbB2) is a 185-kD transmembrane glycoprotein with tyrosine kinase activity expressed in meningiomas and various other tumors. It can be used in targeted therapy for HER2/neu positive meningiomas. Aim: To correlate the expression of HER2/neu protein in meningiomas with gender, location, histological subtypes, and grade. Materials and Methods: It was 3½ years prospective (March 2010–October 2011) and retrospective (May 2008–February 2010) study of histopathologically diagnosed intracranial and intraspinal meningiomas. Clinical details of all the cases were noted from the computerized hospital information system. Immunohistochemistry for HER2/neu protein was performed along with scoring. Statistical analysis was done using Chi-square test to look for any association of HER2/neu with gender, location, grade, and various histological subtypes of meningiomas at 5% level of significance. Results: A total of 100 cases of meningiomas were found during the study period. Of which, 80 were Grade I, 18 were Grade II, and 2 were Grade III meningiomas as per the World Health Organization 2007 criteria. The female-male ratio was 1.9:1 and the mean age was 47.8 years. HER2/neu protein was expressed in 75% of Grade I and 72.2% of Grade II and none of Grade III meningiomas. About 72.7% brain invasive meningiomas showed HER2/neu immunopositivity. Conclusion: HER2/neu protein was expressed in 73% of meningiomas. Statistically significant difference of HER2/neu expression was not seen between females and males of Grade I and Grade II/III meningiomas, intracranial and spinal tumors, Grade I and Grade II/III cases, and various histological subtypes of meningiomas.
Henoch-Schönlein purpura in adults is not uncommon in elderly patients with an adverse prognosis.

BACKGROUND Henoch-Schönlein purpura (HSP) is a fairly common disease in children and adolescents. There are only limited data available for adults. METHODS A retrospective analysis was conducted to study renal manifestations in patients with HSP treated in our institution between 1982 and 2007. We divided our adult cohort according to age - under or over 60 years - to examine differences in elderly patients. RESULTS HSP was identified in 2.2% of patients referred to us for kidney biopsy. Purpuric lesions and renal involvement were found in all patients. An important triggering factor for the development of HSP in our series was chronic alcohol intake. Forty percent of our patients fulfilled the WHO criteria for alcoholics. Renal involvement was particularly prominent in patients over 60 years of age. At disease onset, estimated glomerular filtration rate (eGFR) was 63% lower in the elderly. Within a median follow-up of 8 years, renal function was significantly better in younger adults than in the elderly. 32% of the elderly have shown Modification of Diet in Renal Disease (MDRD) < 20 ml/min/1.73 m2 in contrast to only 7% in patients < 60 years. Furthermore, significantly more elderly patients reached end-stage renal failure. CONCLUSION The data indicate that renal manifestation of HSP in the elderly is severe and its outcome relatively poor, and worsens when compared to patients < 60 years.
Referee Recommendations

This paper analyzes referee recommendations at the SFS Cavalcade, where a known algorithm matched referees to submissions, and at eight prominent economics and finance journals (ECMTA, JEEA, JET, QJE, IER, RAND, JF, RFS). The behavior of referees was similar in all venues. The referee-specific component was about twice as important as the common component. Referees differed both in their scales (some referees were intrinsically more generous than others) and in their opinions of what a good paper was (they often disagreed about the relative ordering of papers). My paper quantifies these effects.
Alpha-1 microglobulin: a marker for early detection of tubular disorders in diabetic nephropathy.

BACKGROUND Tubular damage as suggested by tubular proteinuria is a recognised feature of glomerulonephritis. The objectives of the study were to compare the level of alpha-microglobulin in normal and diabetic patients, and also to find out whether the level of alpha-1 microglobulin could become a laboratory marker for tubulo-interstitial damage in diabetic nephropathy. METHODS Twenty-nine registered Type II diabetic patients of either sex were studied. The patients' age ranged from 41-50 years who were admitted in the medical ward, and those who visited the outdoor department of Sir Ganga Ram Hospital, Lahore were included in the study. The duration of study was one year from June 2006 to June 2007. Ten normal subjects with no history of diabetes were taken as controls. Blood samples and 24 hour urine samples of patients of all groups were collected. The levels of urinary protein and blood sugar were estimated by auto analyser. Proteinuria positive urinary samples were analysed by SDS-PAGE electrophoresis. RESULTS The level of alpha-1 urinary protein was significantly increased in the group of diabetic patients as compared to the urinary protein level of normal subjects. Blood sugar level was also significantly increased in patients as compared to controls. Level of low molecular weight protein alpha-1 microglobulin showed an electrophoresis band of 28 Kda with an average volume of 6741.88 in the urine sample of patients. On the other hand, a very light, hardly recognisable band was observed in normal subjects. CONCLUSION Urinary alpha-1 microglobulin provides a noninvasive and inexpensive diagnostic alternative for the diagnosis and monitoring of urinary tract disorders, i.e., early detection of tubular disorders of diabetic nephropathy. We propose that SDS-PAGE electrophoresis is a comparatively inexpensive diagnostic approach to detect this marker in the urine sample.