bluuebunny/crossref_metadata_2025_split huggingface dataset:
Application of a radiosensitivity flow assay in a patient with DNA ligase 4 deficiency
Authors: Buchbinder David , Smith Matthew J. , Kawahara Misako , Cowan Morton J. , Buzby Jeffrey S. , Abraham Roshini S. 
Published: July 2018

Key Points
DNA ligase 4 deficiency is a defect causing lymphopenia (T-B-NK+) and a radiosensitive severe combined immunodeficiency phenotype. Flow cytometric analysis of phosphorylation/dephosphorylation states of histone H2AX allows for in-depth lineage-specific assessment.
Assessment of dynamic change in psychotherapy with adolescents
Authors: Ness Elisabeth , Dahl Hanne-Sofie Johnsen , Tallberg Peter , Amlo Svein , Høglend Per , Thorén Agneta , Egeland Jens , Ulberg Randi 
Published: July 2018

Abstract
Background
Diagnostic interviews and questionnaires are commonly used in the assessment of adolescents referred to child and adolescent mental health services. Many of these rating scales are constructed for adults and focus on symptoms related to diagnosis. Psychodynamic Functioning Scales (PFS) focus on relational aspects and how the patients handle affects and solve problems, rather than manifest symptoms. As these aspects are considered important for mental health, the PFS were developed to assess change in adults, consistent with the relational and intrapsychic concepts of dynamic psychotherapy. The scales describe internal predispositions and psychological resources that can be mobilized to achieve adaptive functioning and life satisfaction. PFS consist of six subscales; the relational subscales Family, Friends and Romantic/Sexual relationships and the dynamic subscales Tolerance for Affects, Insight and Problem-solving Capacity. PFS has been used for the first time as a measure of change in adolescent psychotherapy. This study examines the reliability of PFS when used to assess adolescents’ level of relational functioning, affective tolerance, insight, and problem-solving capacities.

Methods
Outpatient adolescents 16–18 years old with a major depressive disorder were included in the First Experimental Study of Transference work in Teenagers (FEST-IT). They were evaluated before and after time-limited psychodynamic psychotherapy with an audio-recorded semi-structured psychodynamic interview. Based on the audio-tapes, raters with different clinical background rated all the available interviews at pre-treatment (n = 66) and post-treatment (n = 30) using PFS. Interrater reliability, the reliability of change ratings and the discriminability from general symptoms were calculated in SPSS.

Results
The interrater reliability was on average good on the relational subscales and fair to good on the dynamic subscales. All pre-post changes were significant, and the analyses indicated discriminability from general symptoms. The interrater reliability on PFS (mean) and Global Assessment of Functioning were good to excellent.

Conclusion
Based on the interrater reliability in our study, PFS could be recommended in psychotherapy with adolescents by experienced clinicians without extensive training. From the post-treatment evaluations available, the scales seem to capture statistically and clinically significant changes. However, the interrater reliability on dynamic subscales indicates that subscales of PFS might be considered revised or adjusted for adolescents.
Trial registration First Experimental Study of Transference-Work-In Teenagers (2011/1424 FEST-IT). ClinicalTrials.gov Identifier: NCT01531101
Regulation of Pituitary Progenitor Differentiation by β-Catenin
Authors: Youngblood Julie L , Coleman Tanner F , Davis Shannon W 
Published: July 2018

AbstractThe pituitary gland is a critical organ that is necessary for many physiological processes, including growth, reproduction, and stress response. The secretion of pituitary hormones from specific cell types regulates these essential processes. Pituitary hormone cell types arise from a common pool of pituitary progenitors, and mutations that disrupt the formation and differentiation of pituitary progenitors result in hypopituitarism. Canonical WNT signaling through CTNNB1 (β-catenin) is known to regulate the formation of the POU1F1 lineage of pituitary cell types. When β-catenin is deleted during the initial formation of the pituitary progenitors, Pou1f1 is not transcribed, which leads to the loss of the POU1F1 lineage. However, when β-catenin is deleted after lineage specification, there is no observable effect. Similarly, the generation of a β-catenin gain-of-function allele in early pituitary progenitors or stem cells results in the formation of craniopharyngiomas, whereas stimulating β-catenin in differentiated cell types has no effect. PROP1 is a pituitary-specific transcription factor, and the peak of PROP1 expression coincides with a critical time point in pituitary organogenesis—that is, after pituitary progenitor formation but before lineage specification. We used a Prop1-cre to conduct both loss- and gain-of-function studies on β-catenin during this critical time point. Our results demonstrate that pituitary progenitors remain sensitive to both loss and gain of β-catenin at this time point, and that either manipulation results in hypopituitarism.
Discharge Hemoglobin Level and 30-Day Readmission Rates After Coronary Artery Bypass Surgery
Authors: Cho Brian C. , DeMario Vincent M. , Grant Michael C. , Hensley Nadia B. , Brown Charles H. , Hebbar Sachidanand , Mandal Kaushik , Whitman Glenn J. , Frank Steven M. 
Published: July 2018

BACKGROUND:
Restrictive transfusion strategies supported by large randomized trials are resulting in decreased blood utilization in cardiac surgery. What remains to be determined, however, is the impact of lower discharge hemoglobin (Hb) levels on readmission rates. We assessed patients with higher versus lower Hb levels on discharge to compare 30-day readmission rates after coronary artery bypass grafting (CABG).

METHODS:
We retrospectively evaluated 1552 patients undergoing isolated CABG at our institution from January 2013 to May 2016. We evaluated 2 Hb cohorts: “high” (above) and “low” (below) the mean discharge Hb level of 9.4 g/dL, comparing patient characteristics, blood utilization, and clinical outcomes including 30-day readmission rates. We further evaluated the effects of the lowest (<8 g/dL) discharge Hb levels on 30-day readmission rates by dividing the patients into 4 anemia cohorts based on discharge Hb levels: “no anemia” (>12 g/dL), “mild anemia” (10–11.9 g/dL), “moderate anemia” (8–9.9 g/dL), and “severe anemia” (<8 g/dL). Risk adjustment accounted for age, sex, Charlson comorbidity index, preoperative comorbidities, revision sternotomy, and patient blood management program implementation.

RESULTS:
The “high” and “low” groups had similar patient characteristics except for Hb levels (mean discharge Hb was 10.4 ± 0.9 vs 8.5 ± 0.6 g/dL, respectively). Notably, no evidence for a difference in 30-day readmission rates was noted between the “high” (76/746; 10.2%) and “low” (97/806; 12.0%) (P = .25) Hb cohorts. The 4 anemia cohorts had differences in age, revision sternotomy incidence, Hb levels, certain patient comorbidities, and time to readmission. On multivariable analysis, the risk-adjusted odds of readmission in the “low” Hb cohort (odds ratio, 1.16; 95% confidence interval, 0.84–1.61; P = .36) was not significant compared to the “high” Hb cohort. Compared to patients with discharge Hb ≥8 g/dL, patients with Hb <8 g/dL had a higher incidence of readmission (22/129; 17.1% vs 151/1423; 10.6%; P = .036). On multivariable analysis, Hb <8 g/dL on discharge was predictive of readmission (odds ratio, 1.77; 95% confidence interval, 1.05–2.88; P = .03). The most common reason for readmission was volume overload, followed by infection and arrhythmias.

CONCLUSIONS:
A discharge Hb level below the institution mean for CABG patients does not provide evidence for an association with an increased 30-day readmission rate. In the small number of patients discharged with Hb <8 g/dL, there is a suggestion of increased risk for readmission and larger more controlled studies are needed to verify or refute this finding.
RERE deficiency leads to decreased expression of GATA4 and the development of ventricular septal defects
Authors: Kim Bum Jun , Zaveri Hitisha P. , Jordan Valerie K. , Hernandez-Garcia Andres , Jacob Daron J. , Zamora Diana L. , Yu Wei , Schwartz Robert J. , Scott Daryl A. 
Published: July 2018

ABSTRACT
Deletions of chromosome 1p36 are associated with a high incidence of congenital heart defects (CHDs). The arginine-glutamic acid dipeptide repeats gene (RERE) is located in a critical region for CHD on chromosome 1p36 and encodes a cardiac-expressed nuclear receptor co-regulator. Mutations affecting RERE cause atrial and ventricular septal defects (VSDs) in humans, and RERE-deficient mice also develop VSDs. During cardiac development, mesenchymal cells destined to form part of the atrioventricular (AV) septum are generated when endocardial cells in the AV canal undergo epithelial-to-mesenchymal transition (EMT) and migrate into the space between the endocardium and the myocardium. These newly generated mesenchymal cells then proliferate to fill the developing AV endocardial cushions. Here, we demonstrate that RERE-deficient mouse embryos have reduced numbers of mesenchymal cells in their AV endocardial cushions owing to decreased levels of EMT and mesenchymal cell proliferation. In the endocardium, RERE colocalizes with GATA4, a transcription factor required for normal levels of EMT and mesenchymal cell proliferation. Using a combination of in vivo and in vitro studies, we show that Rere and Gata4 interact genetically in the development of CHDs, RERE positively regulates transcription from the Gata4 promoter and GATA4 levels are reduced in the AV canals of RERE-deficient embryos. Tissue-specific ablation of Rere in the endocardium leads to hypocellularity of the AV endocardial cushions, defective EMT and VSDs, but does not result in decreased GATA4 expression. We conclude that RERE functions in the AV canal to positively regulate the expression of GATA4, and that deficiency of RERE leads to the development of VSDs through its effects on EMT and mesenchymal cell proliferation. However, the cell-autonomous role of RERE in promoting EMT in the endocardium must be mediated by its effects on the expression of proteins other than GATA4.
This article has an associated First Person interview with the first author of the paper.
Diagnostic value of halo sign in young women (aged 45 to 49 years) in a breast screening programme with synthesized 2D mammography
Authors: Sánchez-Camacho González-Carrato María Pilar , Romero Castellano Cristina , Aguilar Angulo Paul Martín , Cruz Hernández Lina Marcela , Sánchez Casado Marcelino , Ruiz Martín Juan , Fraile Alonso Iñaki , Pinto Varela José María , Martínez-Vizcaíno Vicente 
Published: July 2018

Objective:
To assess the clinical performance of the halo sign in tomosynthesis and synthesized 2D mammography, and to identify age groups where its diagnostic value may be greater.

Methods:
183 patients with nodules were recalled from the breast screening programme (with tomosynthesis and 2D synthesized mammograms). The patients were separated into two groups, 45–49 years and 50–69 years, and depending on the presence or not of halo sign. We calculated the predictive values for the different age groups.

Results:
In 45–49 years group, 86 nodular lesions were recalled, 66 (76.7%) with positive halo sign and 20 (23.3%) with negative halo sign. In positive halo sign group, biopsy was considered in 23 (34.8%), with histological features of benignity. In 50–69 years group, 98 nodular lesions from 97 patients were recalled, 51 (52%) with positive halo sign and 47 (48%) with negative halo sign. In positive halo sign group, biopsy was considered in 13 (25.5%); four (30.8%) were malignant and nine (69.2%) were benign.

Conclusion:
Halo sign could be considered as a marker of benign lesion in females &lt; 50 years. In females ≥ 50 years, other breast imaging techniques should be considered, with or without histological studies, to rule out malignancy.

Advances in knowledge:
The trend of a positive halo sign to act as a marker of benign lesion could be improve the recall rate and positive predictive values in the breast screening programme with tomosynthesis and synthesized 2D mammography, especially in young females.
Preoperative axillary nodal staging with ultrasound and magnetic resonance imaging: predictive values of quantitative and semantic features
Authors: Kim Won Hwa , Kim Hye Jung , Lee So Mi , Cho Seung Hyun , Shin Kyung Min , Lee Sang Yub , Lim Jae Kwang , Lee Won Kee 
Published: July 2018

Objective:
Although axillary imaging has recently received renewed interest for preoperative staging in tandem with the evolving minimally invasive surgical approaches, axillary imaging is limited by the lack of standardization in the interpretation. We aimed to classify imaging features in ultrasound and MRI into quantitative and semantic features and evaluate predictive value of each feature for predicting nodal metastases.

Methods:
A total of 316 breast cancers patients who underwent ultrasound and MRI prior to axillary surgery were included. Retrospective reviews of our breastimaging database were done for the quantitative features [cortical thickness (CT) and CT-derived parameters, long diameter (LD), short diameter (SD), and LD/SD ratio] and semantic features (eccentricity, loss of fatty hilum, and irregularity) of the axillary lymph node in images. Odd ratios (ORs) for each imaging feature were calculated with adjustment for clinicopathological characteristics significantly associated with nodal metastases.

Results:
All CT-derived parameters were significantly associated with nodal metastases in both ultrasound and MRI (OR, 3.3–3.5 for ultrasound and 3.3–3.9 for MRI, respectively; Ps &lt; .05). For the ultrasound, LD/SD ratio (OR, 2.1), eccentricity (OR, 2.4), and fatty hilum loss (OR, 27.2) were significantly associated with nodal metastases (Ps &lt; .05). For the MRI, SD (OR, 2.1) and eccentricity (OR, 3.0) were significantly associated with nodal metastases (Ps &lt; .05).

Conclusion:
Among the quantitative features, all CT-derived parameters can be used for predicting nodal metastases. Significant predictors of semantic features were heterogeneous between ultrasound and MRI.

Advances in knowledge:
(1) Imaging features of ultrasound and MRI for preoperative axillary nodal staging can be classified into quantitative and semantic features. (2) Predictive values of each imaging features are heterogeneous for predicting nodal metastases.
Status of drowning in Nepal: A study of central police data
Authors: Sedain Bhagabati , Pant Puspa Raj 
Published: July 2018

Background: Drowning is a serious and mostly preventable injury-related cause of death. Low-and-middle income countries represent over 90% of total drowning deaths worldwide. There is lack of epidemiological studies of drowning in Nepal. The aim of this paper is to describe the status of drowning in Nepal. Methods: Cases of drowning, occurring between 1 January 2013 and 31 December 2015 were extracted from the Daily Incident Recording System of Nepal Police. Drowning cases were extracted and analysed regardless of their intent. Variables on age, sex of the deceased, types of water bodies, geographical locations, season when drowning occurred and activities of deceased were extracted and descriptive analysis was conducted. Results: A total of 1,507 drowning cases were recorded over a 3 year period. The rate of drowning was 1.9 per 100,000 (2.95 for males and 0.92 for females). Majority of drowning occurred among males (76%) and more than half were (53%) under 20 years of age. Mostly drowning occurred in rivers (natural water bodies). The findings provide strong indication that drowning occurs throughout the year in Nepal. Children were highly vulnerable to drowning. The magnitude of drowning was found to be lower than estimated by global burden of disease (GBD) study. Conclusion: The burden of drowning in Nepal is considerable, but mostly unknown to the public. Despite only having access to a limited data source, this study provides useful evidence that comprehensive research in Nepal is needed urgently.
Prevalence of aerobic pathogenic bacteria isolated from patients with burn infection and their antimicrobial susceptibility patterns in Al-Najaf City, Iraq- a three-year cross-sectional study.
Authors: Aljanaby Ahmed Abduljabbar Jaloob , Aljanaby Israa Abduljabbar Jaloob 
Published: July 2018

Background: Burn infections are one of the most common serious illnesses caused by pathogens, mainly by both gram-negative and gram-positive bacteria. The aim of this study was to detect of the prevalence of multi-drug resistant and extended-spectrum β-lactamase-producing (ESBL) bacteria isolated from inpatients with burn infection and the antimicrobials sensitivity patterns of all bacterial isolates during three years. Methods: This cross-sectional study was performed in Al-Najaf Central Hospital in Al-Najaf City, Iraq from January 2015 to December 2017. A total of 295 burns swabs were collected from hospitalized patients with burn infection. All grown bacterial isolates were identified by standardized microbiological tests. Antimicrobials susceptibility testing was done using the disc diffusion method. Multi-drug, extensive-drug and pan-drug resistant bacteria and extended-spectrum β-lactamase-producing bacteria were determined according to standardized methods and guidelines. Results: Of the 295 burn swabs, 513 different bacteria strains were isolated. Pseudomonas aeruginosa was the most common bacteria with 142 isolates (27.6%) followed by methicillin resistance Staphylococcus aureus 106 isolates (20.6%), while Staphylococcus typhi was the least common bacteria with only 17 isolates (3.3%). 323 (63%) different bacterial strains were isolated from patients who stayed in hospital for 15 days. Most bacterial isolates were resistant to most antimicrobials with high percentages. Out of the 513 bacterial isolates; only 33 isolates (6.4%) were resistant to imipenem 10µg and 464 isolates (90.4%) were multi-drug resistant, 20 isolates (14%) were extensive-drug resistant and 17 isolates (3.3%) were pan-drug resistant. Pseudomonas aeruginosa was the most common ESBL-producing bacteria (51 isolates-35.9%). Conclusions: There was a high prevalence of multi-drug resistant bacteria in burn infection in Al-Najaf hospital. Pseudomonas aeruginosa was the most common multi-drug resistant bacteria, and the most common of ESBL bacteria causing burn infection over the three years.
Emerging Hand Foot Mouth Disease in Bangladeshi Children- First Report of Rapid Appraisal on Pocket Outbreak: Clinico-epidemiological Perspective Implicating Public Health Emergency
Authors: Hossain Khan Md. Azraf , Anwar Kazi Selim , Muraduzzaman A. K. M. , Hossain Mollah Md. Abid , Akhter-ul-Alam S. M. , Munisul Islam Kazi , Hoque Sheikh Ariful , Nazrul Islam Md. , Ali Md. Ahasan 
Published: July 2018

Background:Hand, foot and mouth disease (HFMD) is a common contagious disease among children under 5 years, particularly in the Asia-Pacific-region. We report a localized outbreak of childhood HFMD for the first time from Bangladesh, diagnosed only based on clinical features due to gross lack of in laboratory-diagnostic facilities.Methods:Following the World Health Organization’s case-definition, we conducted a rapid-appraisal of HFMD among 143 children attending Pabna Medical College and General Hospital with fever, mouth ulcers and rash. Data were collected between September and November 2017 using a preset syndromic approach and stringent differential diagnostic-protocols.Results:The mean age of children was 2.9±2.3 years. Age did not differ with sex (P=0.98), first sibling being more likely to (62%) belong to middle-income families. Younger children (<5 years) were more likely to suffer with moderate-to-high (38.5°C) fever (P<0.04), painful oral ulcers (P<0.03) and painful/itchy rash (P<0.01). Sex did not differ with other symptoms, but boys had less painful oral ulcers than girls (P<0.04). Fever (63%) and chicken-pox-like-rash (62%) was observed more in mid-October to mid-November than September to mid-October (P<0.01 and P<0.03, respectively). No differences in symptoms (fever, oral ulcers and extremity rash) were observed with precipitation, nor with ambient temperature. Children <5 years (85%) had quicker recovery (within 5 days) than those ≥5 years (69%), (P<0.04), with marginal differences in sex (P<0.05).Conclusions:Our findings highlight the potential usefulness in diagnosing HFMD based on clinical parameters, although stringent differential diagnosis remains indispensable. It is particularly applicable for resource-constrained countries who lack appropriate virology laboratory equipment. Since no specific treatment or effective vaccination is available for this disease, supportive therapy and preventive measures remain the primary methods to circumvent transmission augmented by climate-related factors. Standardized virology laboratory warrants appropriate diagnosis and globally representative multivalent vaccine is deemed essential towards preventing HFMD.
Case Report: Recurrent hypokalemic periodic paralysis associated with distal renal tubular acidosis (type 1) and hypothyroidism secondary to thyroiditis
Authors: Meregildo-Rodríguez E. Dante , Failoc-Rojas Virgilio E. 
Published: July 2018

Background: Hypokalemic periodic paralysis (HypoKPP) is characterized by transient episodes of flaccid muscle weakness. We describe the case of a teenaged boy with HypoKPP and hyperthyroidism due to Hashimoto's thyroiditis with initial manifestation of renal tubular acidosis. This combination is rare and little described previously in men. Case presentation: A 17-year-old boy was admitted after three days of muscular weakness and paresthesia in the lower limbs with an ascending evolution, leading to prostration. Decreased strength was found in the lower limbs without a defined sensory level, reduced patellar and ankle reflexes. Positive antithyroid antibodies were found. He received hydration treatment, IV potassium and levothyroxine, with which there was a clinical improvement. Other examinations led to the diagnosis of type 1 renal tubular acidosis. Conclusion: HypoKPP is a rare disorder characterized by acute episodes of muscle weakness. Type 1 renal tubular acidosis can occur as a consequence of thyroiditis, which is explained by the loss of potassium. This combination is unusually rare, and has not been described before in men. The etiopathogenesis of the disease as well as a dynamic explanation of what happened with the patient are discussed in this report.