bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic and molecular findings of 38 Iranian patients with chronic granulomatous disease caused by p47‐phoxdefect
Authors: Tajik Shaghayegh , Badalzadeh Mohsen , Fazlollahi Mohammad Reza , Houshmand Massoud , Bazargan Nasrin , Movahedi Masoud , Mahlouji Rad Maryam , Mahdaviani Seyed Alireza , Mamishi Setareh , Khotaei Ghamar Taj , Mansouri Davood , Zandieh Fariborz , Pourpak Zahra 
Published: April 2019

AbstractOne of the components of NADPH oxidase is p47‐phox,encoded byNCF1gene. This study aims to find new genetic changes and clinical features in 38 Iranian patients with autosomal recessive chronic granulomatous disease (AR‐CGD) caused byNCF1gene defect. Patients who had abnormal NBT and DHR‐1,2,3 assay with loss of p47‐phoxin Western blotting were included in this study. After recording demographic and clinical data, PCR amplification was performed followed by direct sequencing for all exons and exon‐intron boundaries. The most common form of CGD in Iran was AR‐CGD due to consanguinity marriages. Among patients with AR‐CGD,NCF1deficiency was found to be more common than other forms. Cutaneous involvements (53%), pulmonary infections (50%) and lymphadenopathy (29%) were more prevalent than other clinical manifestations of CGD. Mutation analysis ofNCF1gene identified five different mutations. Homozygous delta GT deletion (c.75_76delGT) was the most frequent mutation and was detected in more than 63% of families. Six families had a nonsense mutation in exon 7 (c.579G > A). Two novel mutations were found in exon 4 in two families, including a missense mutation (c.328C > T) and a nine‐nucleotide deletion (c.331_339delTGTCCCCAC). Genetic detection of these mutations may result in early diagnosis and prevention of possible complications of the disease. This could be useful for timely decision‐making for haematopoietic stem cell transplantation and for carrier detection as well as prenatal diagnosis of next children in the affected families. Our findings might help to predict outcomes, raise awareness and help effective treatment in these patients.
The effect of varying degrees of compression from elastic vs plastic wrap on quadriceps intramuscular temperature during wetted ice application
Authors: Kwiecien Susan Y. , Mathew Stephen , Howatson Glyn , McHugh Malachy P. 
Published: April 2019

The aim of this study was to evaluate and compare the effectiveness of wetted ice bag, applied with high compression elastic wrap or held in place with low compression plastic wrap, on reducing vastus lateralis intramuscular temperature and skin surface temperature. Ten healthy male participants had wetted ice packs applied to a standardized area on the anterior aspect of the quadriceps simultaneously to both legs for 30 minutes. The ice pack was secured with high compression (elastic wrap) to the left anterior thigh (60.6 ± 8.1 mm Hg) and low compression (plastic wrap) to the right anterior thigh (15.5 ± 4.0 mm Hg). Intramuscular temperature (1 and 3 cm) and skin temperature of the vastus lateralis were measured continuously during a 10‐minute baseline period, 30‐minute treatment period, and a 60‐minute recovery period. No difference was observed between treatments in terms of the magnitude of reduction in intramuscular temperature at both 1 and 3 cm and skin temperature regardless of compression pressure (P > 0.05). Temperature upon conclusion of elastic wrap treatment was as follows: 17.8 ± 5.2°C at 1 cm and 23.1 ± 4.9°C at 3 cm; plastic wrap treatment: 17.9 ± 4.4°C at 1 cm and 24.5 ± 6.7°C at 3 cm. Plastic wraps may offer a practical alternative to elastic wraps for clinicians as they may be disposed of by the patient or athlete without having to stay at the treatment facility.
The Incidence of Crime on Industry‐Level Foreign Direct Investment: An Assessment of OECD Member Countries*
Authors: Brown Leanora , Hibbert Keva 
Published: April 2019

AbstractIn this article, we assess whether the incidence of crime helps to explain the variation in sectoral FDI flows. Using a panel of 29 Organization of Economic Co‐operation and Development (OECD) countries for the period 2003–2012, we employ a generalized method of moments (GMM) estimation strategy due to the potential for endogeneity between our variables of interest. Our results indicate that crime deters investment to the service sector. In particular, this effect is observed in the following service industry subsector: financial services. Policymakers interested in boosting FDI in the affected sectors should be concerned with policies that focus on the reduction of criminal activities.
Your Brain on Comics: A Cognitive Model of Visual Narrative Comprehension
Authors: Cohn Neil 
Published: April 2019

AbstractThe past decade has seen a rapid growth of cognitive and brain research focused on visual narratives like comics and picture stories. This paper will summarize and integrate this emerging literature into theParallel Interfacing Narrative‐Semantics Model(PINS Model)—a theory of sequential image processing characterized by an interaction between two representational levels: semantics and narrative structure. Ongoing semantic processes build meaning into an evolving mental model of a visual discourse. Updating of spatial, referential, and event information then incurs costs when they are discontinuous with the growing context. In parallel, a narrative structure organizes semantic information into coherent sequences by assigning images to categorical roles, which are then embedded within a hierarchic constituent structure. Narrative constructional schemas allow for specific predictions of structural sequencing, independent of semantics. Together, these interacting levels of representation engage in an iterative process of retrieval of semantic and narrative information, prediction of upcoming information based on those assessments, and subsequent updating based on discontinuity. These core mechanisms are argued to be domain‐general—spanning across expressive systems—as suggested by similar electrophysiological brain responses (N400, P600, anterior negativities) generated in response to manipulation of sequential images, music, and language. Such similarities between visual narratives and other domains thus pose fundamental questions for the linguistic and cognitive sciences.
Does deferral for high‐risk behaviors improve the safety of the blood supply?
Authors: Gonçalez Thelma T. , Sabino Ester C. , Kaidarova Zhanna , Carneiro‐Proietti Anna Barbara F. , Miranda Carolina , Loureiro Paula , Lopes Maria Esther , de Almeida‐Neto Cesar , Schlumpf Karen S. , Wright David J. , Murphy Edward L. , Custer Brian ,   for the NHLBI Retrovirus Epidemiology Donor Study‐II (REDS‐II), International Component, Brazil
Published: April 2019

BACKGROUNDPredonation donor deferral is used to select donors with presumed lower risk for transfused transmitted infections. The contribution to blood safety from this practice has not been reported previously for Brazil.STUDY DESIGN AND METHODSAt four large Brazilian blood centers from September 2010 to March 2011, donors who were deferred due to responses on eligibility questions were invited to provide a blood sample to test for HIV, hepatitis C virus, hepatitis B virus, human T‐lymphotropic virus, syphilis, and Trypanosoma cruzi and complete an audio computer‐assisted structured interview on risk behaviors.RESULTSOf 299,848 potential donors during the study period, 66,870 were deferred with 10,453 (15.6%) for high‐risk behaviors. Of those, 4860 (46.5%) were consecutively approached and 4013 (82.5%) participated. Disclosed risk behaviors by audio computer‐assisted structured interview included 4 or more sexual partners in the past 12 months (15.0% of females [F] and 34.5% of males [M]), unprotected sex (62.0% F and 44.0% M), other high‐risk sexual exposure (85.0% F and 73.0% M), being a person who injects drugs (3.0% F and 10.0% M), and test‐seeking (17.0% F and 22.0% M). Eleven percent of deferred males reported male‐to‐male sex. Individuals who reported other high‐risk sexual exposure, sexual partner risk, or male‐to‐male sex had the highest frequency of confirmed HIV: 1.2, 0.7, and 0.7%, respectively. Individuals who reported male‐to‐male sex, sexual partner risk, test seeking, and unprotected sex had the highest frequency of confirmed syphilis: 3.8, 3.3, 2.4, and 2.0%, respectively.CONCLUSIONDonor deferral deters donation by individuals with risk behaviors and elevated rates of infectious disease markers.
Plasma‐derived Factor X therapy for treatment of intracranial bleeding in a patient with Factor X deficiency: a case report
Authors: Grottke Oliver , Moser Olga , Farrag Ahmed , Elbracht Miriam , Orlikowsky Thorsten , Trepels‐Kottek Sonja 
Published: April 2019

ABSTRACTBACKGROUNDFactor X (FX) deficiency (FXD) is an extremely rare autosomal recessive hereditary hematologic disorder, affecting approximately one in 1,000,000 of the general population.CASE REPORTThis case report describes an infant with hereditary severe FXD who presented with a spontaneous, life‐threatening intracranial hemorrhage and was treated with the first licensed plasma‐derived FX (pdFX) concentrate. On admission, laboratory assays showed severe coagulopathy of unknown cause; the patient was empirically treated using a multimodal hemostatic approach with prothrombin complex concentrate, fresh‐frozen plasma, and tranexamic acid. Subsequent single‐factor coagulation and genetic analyses confirmed the hereditary FXD diagnosis, and the therapeutic regimen was changed to a targeted regimen of 250 IU pdFX daily. Based on careful monitoring of the coagulation profile, pdFX administration frequency was increased to twice daily, followed by a reduction to once every 18 hours. The patient was discharged after 7 weeks of hospitalization in good clinical condition and now receives prophylactic pdFX three times weekly.
Anatomical predictors of conduction damage after transcatheter implantation of the aortic valve
Authors: Tretter Justin T , Mori Shumpei , Anderson Robert H , Taylor Michael D , Ollberding Nicholas , Truong Vien , Choo Joseph , Kereiakes Dean , Mazur Wojciech 
Published: April 2019

ObjectiveConduction damage following transcatheter aortic valve implantation (TAVI) remains common. Anatomical risk factors remain elusive. We assessed the impact of variability in the dimensions of the membranous septum and position of the aortic root on the occurrence of conduction damage following TAVI.MethodsThe dimensions of the membranous septum, the rotational position of the aortic root correlating to variability in the central fibrous body width, and wedging of the aortic root were assessed on pre-TAVI CT datasets. The depth of implantation was measured from the final aortic angiogram. The variables were compared with the occurrence of both permanent pacemaker insertion (PPI) and left bundle branch block (LBBB) following TAVI.ResultsOf 200 patients who met inclusion criteria (mean age = 81 years ± 7.7, 49% men), 20.5 % underwent PPI after TAVI. New LBBB occurred in 23.5%, 21.3 % of whom required PPI. Preprocedural right bundle branch block (OR = 7.00; CI 3.13 to 15.64), valve type (OR=2.35; CI 1.13 to 4.87), depth of implantation (OR=1.62; CI 1.01 to 2.61) and the difference between depth of implantation and the distance from the virtual basal ring to the inferior margin of the membranous septum (OR=0.61; CI 0.38 to 0.99) were all associated with PPI, with similar associations with LBBB. No gross anatomical variable alone was associated with conduction damage.ConclusionsGross anatomical variation of the aortic root and its underlying support, including the membranous septum, were not associated with the occurrence of either PPI or new LBBB. Procedural characteristics associated with these adverse outcomes suggest that the depth of implantation and radial force of the bioprosthesis, regardless of gross anatomical variability, increase the risk for conduction damage.
Characterization of HCC Mouse Models: Towards an Etiology-Oriented Subtyping Approach
Authors: Friemel Juliane , Frick Lukas , Unger Kristian , Egger Michele , Parrotta Rossella , Böge Yannick T. , Adili Arlind , Karin Michael , Luedde Tom , Heikenwalder Mathias , Weber Achim 
Published: April 2019

Abstract

Murine liver tumors often fail to recapitulate the complexity of human hepatocellular carcinoma (HCC), which might explain the difficulty to translate preclinical mouse studies into clinical science. The aim of this study was to evaluate a subtyping approach for murine liver cancer models with regard to etiology-defined categories of human HCC, comparing genomic changes, histomorphology, and IHC profiles. Sequencing and analysis of gene copy-number changes [by comparative genomic hybridization (CGH)] in comparison with etiology-dependent subsets of HCC patients of The Cancer Genome Atlas (TCGA) database were conducted using specimens (75 tumors) of five different HCC mouse models: diethylnitrosamine (DEN) treated wild-type C57BL/6 mice, c-Myc and AlbLTαβ transgenic mice as well as TAK1LPC-KO and Mcl-1Δhep mice. Digital microscopy was used for the assessment of morphology and IHC of liver cell markers (A6-CK7/19, glutamine synthetase) in mouse and n = 61 human liver tumors. Tumor CGH profiles of DEN-treated mice and c-Myc transgenic mice matched alcohol-induced HCC, including morphologic findings (abundant inclusion bodies, fatty change) in the DEN model. Tumors from AlbLTαβ transgenic mice and TAK1LPC-KO models revealed the highest overlap with NASH-HCC CGH profiles. Concordant morphology (steatosis, lymphocyte infiltration, intratumor heterogeneity) was found in AlbLTαβ murine livers. CGH profiles from the Mcl-1Δhep model displayed similarities with hepatitis-induced HCC and characteristic human-like phenotypes (fatty change, intertumor and intratumor heterogeneity).

Implications:
Our findings demonstrate that stratifying preclinical mouse models along etiology-oriented genotypes and human-like phenotypes is feasible. This closer resemblance of preclinical models is expected to better recapitulate HCC subgroups and thus increase their informative value.
Open-Label Clinical Trials of Oral Pulse Dexamethasone for Adults with Idiopathic Nephrotic Syndrome
Authors: Cho Monique E. , Branton Mary H. , Smith David A. , Bartlett Linda , Howard Lilian , Reynolds James C. , Rosenstein Donald , Sethi Sanjeev , Nava M. Berenice , Barisoni Laura , Fervenza Fernando C. , Kopp Jeffrey B. 
Published: April 2019

<b><i>Background:</i></b> In adults with primary focal segmental glomerulosclerosis (FSGS), daily prednisone may induce complete remissions (CR) and partial remissions (PR), but relapses are frequent and adverse events are common. <b><i>Methods:</i></b> We carried out 2 open-label, uncontrolled trials to explore the efficacy and tolerability of pulse oral dexamethasone as an alternative to daily prednisone. We enrolled adult patients with proteinuria &#x3e; 3.5 g/day despite the use of renin-angiotensin-aldosterone blockade. In the first trial, we enrolled 14 subjects with FSGS and administered 4 dexamethasone doses (25 mg/m<sup>2</sup>) daily for 4 days, repeated every 28 days over 32 weeks. The second trial involved a more intensive regimen. Eight subjects received 4 dexamethasone doses of 50 mg/m<sup>2</sup> every 4 weeks for 12 weeks, followed by 4 doses of 25 mg/m<sup>2</sup> every 4 weeks for 36 weeks; subjects were randomized to 2 doses every 2 weeks or 4 doses every 4 weeks. <b><i>Results:</i></b> In the first trial, we enrolled 13 subjects with FSGS and 1 with minimal change disease and found a combined CR and PR rate of 36%. In the second trial, we enrolled 8 subjects. The combined CR and PR rate was 29%. Analysis combining both trials showed a combined CR and PR rate of 33%. Adverse events were observed in 32% of subjects, with mood symptoms being most common. There were no serious adverse events related to the study. <b><i>Conclusion:</i></b> We conclude that high dose oral dexamethasone is well tolerated by adults with idiopathic nephrotic syndrome and may have some efficacy.
Laparoscopic Myomectomy with Temporary Bilateral Uterine Artery and Utero-Ovarian Vessels Occlusion Compared with Traditional Surgery for Uterine Fibroids: Blood Loss and Recurrence
Authors: Jin Lanying , Ji Limei , Shao Mingjun , Hu Min 
Published: April 2019

<b><i>Aim:</i></b> To determine the optimal hemostatic technique for laparoscopic myomectomy (LM) by comparing temporary uterine artery blockage alone or combined with blockage of the utero-ovarian vessels. <b><i>Patients:</i></b> Women with symptomatic uterine myoma attending the Department of Obstetrics and Gynecology in Jinhua Municipal Central Hospital. <b><i>Method:</i></b> A total of 200 patients with symptomatic uterine fibroids were randomly divided into Group A (<i>n</i> = 65), Group B (<i>n</i> = 67) and Group C (<i>n</i> = 68). At the beginning of the procedure, 6 U of vasopressin was injected into the myometrium of all women. LM was performed in Group A; temporary bilateral uterine artery occlusion and myomectomy were performed in Group B and temporary bilateral uterine artery and utero-ovarian vessel occlusion was performed in Group C. We then evaluated operative time, perioperative bleeding, follow-up relief of menorrhagia, and the recurrence of fibroids. <b><i>Results:</i></b> General characteristics of the patients were similar across all 3 groups. All patients underwent successful laparoscopic operation and none of the cases needed to be converted to laparotomy; there were no intraoperative complications. There was no significant difference in the operative time between groups (<i>p</i> = 0.332 and <i>p</i> = 0.346 for single-myoma and multiple-myoma respectively), and for both single and multiple-myoma groups, the blood loss was significantly lower in Group C than Groups A and B (<i>p</i> &#x3c; 0.001). There were no differences in the recurrence rate and menorrhagia symptom relief outcomes when ­compared across the 3 groups at the 30-month follow-up (<i>p </i>= 0.953 and <i>p</i> = 0.841, respectively). At final follow-up, the pregnancy rate of the sexually active patients without contraception was not statistically significant (<i>p</i> = 0.958). The fertility index of anti-Mullerian hormone showed no statistical difference between groups preoperatively or at 2 days, 3 months, 6 months, and 1 year postoperatively (<i>p</i> = 0.998, <i>p </i>= 0.965, <i>p</i> = 0.999, <i>p</i> = 0.994 and <i>p</i> = 0.993, respectively). <b><i>Conclusion:</i></b> LM with temporary bilateral uterine artery and utero-ovarian vessels occlusion has the advantages of less intraoperative bleeding compared with LM and laparoscopic transient uterine artery ligation and does not increase the mean operative time.
Auditory Brainstem Implantation after Unsuccessful Cochlear Implantation of Children with Clinical Diagnosis of Cochlear Nerve Deficiency
Authors: Colletti Liliana , Wilkinson Eric P. , Colletti Vittorio 
Published: April 2019

Objectives We compared the perceptual auditory abilities of 21 children with suspected cochlear nerve deficiency (CND) and a surgically verified absent cochlear nerve (CN) who first underwent cochlear implantation (CI) and subsequently underwent auditory brainstem implantation (ABI). Methods In this retrospective cohort study, from 2000 to 2011, 21 children initially underwent CI at an outside institution and failed to progress in their perceptual auditory abilities. Before CI, all of the children had severe to profound sensorineural hearing loss and a diagnosis of CND. Magnetic resonance imaging (MRI) documented an absent CN in 13 children and a small CN in 8 children. We performed explantation of the cochlear implant and simultaneous ABI on the same side. We performed MRI if no previous MRI results were available. All surgical videos were reviewed to determine the presence or absence of the CN. Measures of the patients’ perceptual auditory abilities obtained after CI and after ABI were converted to the Category of Auditory Performance (CAP) scale. Results At surgery, all patients demonstrated an absent CN. After CI, all patients had a CAP score of 2 or less (mean, 0.52 ± 0.68). After ABI, all patients had a CAP score of 2 or more (mean, 4.33 ± 1.68); the improvement was statistically significant (p < 0.001). The complication rates were similar for CI and ABI. Conclusions In this cohort of patients who had poor performance after CI, ABI achieved significantly improved performance as measured by the CAP and was shown to successfully rehabilitate hearing. Cases of a small CN may in reality represent an absent CN. Although this cohort was selected from patients with failed CI, the results have implications for the selection of device for patients with CND, in that ABI is a potential alternative to CI in select cases. In patients who fail to progress with intensive rehabilitation with CI or who have no progression in evoked auditory brainstem response, ABI must be considered early.
Body Image Disturbance in Surgically Treated Head and Neck Cancer Patients: A Patient‐Centered Approach
Authors: Ellis Mark A. , Sterba Katherine R. , Day Terry A. , Marsh Courtney H. , Maurer Stacy , Hill Elizabeth G. , Graboyes Evan M. 
Published: April 2019

ObjectiveTo promote patient‐centered oncology care through an in‐depth analysis of the patient experience of body image disturbance (BID) following surgery for head and neck cancer (HNC).Study DesignQualitative methods approach using semistructured key informant interviews.SettingAcademic medical center.Subjects and MethodsParticipants with surgically treated HNC underwent semistructured key informant interviews and completed a sociodemographic survey. Recorded interviews were transcribed, coded, and analyzed using template analysis to inform creation of a conceptual model.ResultsTwenty‐two participants with surgically treated HNC were included, of whom 16 had advanced stage disease and 15 underwent free tissue transfer. Five key themes emerged characterizing the participants’ lived experiences with BID following HNC treatment: personal dissatisfaction with appearance, other‐oriented appearance concerns, appearance concealment, distress with functional impairments, and social avoidance. The participant’s perceived BID severity was modified by preoperative patient expectations, social support, and positive rational acceptance. These 5 key themes and 3 experiential modifiers form the basis of a novel, patient‐centered conceptual model for understanding BID in HNC survivors.ConclusionA patient‐centered approach to HNC care reveals that dissatisfaction with appearance, other‐oriented appearance concerns, appearance concealment, distress with functional impairments, and social avoidance are key conceptual domains characterizing HNC‐related BID. Recognition of these psychosocial dimensions of BID in HNC patients can inform development of HNC‐specific BID patient‐reported outcome measures to facilitate quantitative assessment of BID as well as the development of novel preventative and therapeutic strategies for those at risk for, or suffering from, BID.