bluuebunny/crossref_metadata_2025_split huggingface dataset:
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome
Authors: Cordeddu Viviana , Macke Erica L. , Radio Francesca Clementina , Lo Cicero Stefania , Pantaleoni Francesca , Tatti Massimo , Bellacchio Emanuele , Ciolfi Andrea , Agolini Emanuele , Bruselles Alessandro , Brunetti‐Pierri Nicola , Suri Mohnish , Josephs Katherine S. , McEntagart Meriel , Lanpher Brendan , Nickels Katherine C. , Haworth Andrea , Reed Laura , Cappuccio Gerarda , Mammi Isabella , Tarnowski Jessica M. , Novelli Antonio ,   Deciphering Developmental Disorders Study, Melis Daniela , Callewaert Bert , Dallapiccola Bruno , Klee Eric , Tartaglia Marco 
Published: May 2020

AbstractUBE2A deficiency, that is, intellectual disability (ID) Nascimento type (MIM 300860), is an X‐linked syndrome characterized by developmental delay, moderate to severe ID, seizures, dysmorphisms, skin anomalies, and urogenital malformations. Forty affected subjects have been reported thus far, with 31 cases having intragenic UBE2A variants. Here, we report on additional eight affected subjects from seven unrelated families who were found to be hemizygous for previously unreported UBE2A missense variants (p.Glu62Lys, p.Arg95Cys, p.Thr99Ala, and p.Arg135Trp) or small in‐frame deletions (p.Val81_Ala83del, and p.Asp101del). A wide phenotypic spectrum was documented in these subjects, ranging from moderate ID associated with mild dysmorphisms to severe features including congenital heart defects (CHD), severe cognitive impairment, and pineal gland tumors. Four variants affected residues (Glu62, Arg95, Thr99 and Asp101) that contribute to stabilizing the structure of the E3 binding domain. The three‐residue in‐frame deletion, p.Val81_Ala83del, resulted from aberrant processing of the transcript. This variant and p.Arg135Trp mapped to regions of the protein located far from the E3 binding region, and caused variably accelerated protein degradation. By reviewing available clinical information, we revise the clinical and molecular profile of the disorder and document genotype‐phenotype correlations. Pineal gland cysts/tumors, CHD and hypogammaglobulinemia emerge as recurrent features.
Fight or flee: Outside director departures prior to contested management buyout offers
Authors: Arena Matteo P. , Dewally Michaël , Peck Sarah W. 
Published: May 2020

AbstractResearch Question/IssueWe investigate outside director departures prior to management buyout offers (MBOs). In these transactions, managers have both an information advantage and incentives to make a lowball offer to shareholders. Outside directors can safeguard against managerial self‐dealing by negotiating for the best terms for public shareholders from either management or another bidder.Research Findings/InsightsIt is typical that outside directors stay on the board through an MBO offer as MBOs are less likely to have changes in directors—either joining or leaving—relative to a control sample. After controlling for endogeneity as well as firm and director characteristics, we find that outside directors are more likely to leave when the offer is later contested. We do not find any evidence that departing directors are replaced by new outside directors who ensure shareholders get a higher premium nor do we find any evidence that the board acts as a public auctioneer. We also find that outside directors are more likely to depart when the buyout contest is longer. Our findings show that outside directors provide a weak internal monitoring mechanism as they leave precisely when shareholders need their expertise the most.Theoretical/Academic ImplicationsOur results contribute to research that supports the notion that outside director departures are symptomatic of board weakness. The results of our study support the contention of other researchers that outside directors often fail to monitor managers.Practitioner/Policy ImplicationsOur study offers useful information to M&A investment banking advisors and leverage buyout analysts by showing the mechanisms under which director turnover can affect the value and the outcome of MBOs.
Predictors of long‐term renal allograft survival after second kidney transplantation
Authors: O’Kelly John A. , Davis Niall F. , Ferede Atakelet A. , Breen Kieran J. , O’Kelly Patrick , MacCraith Eoin , Forde James , Mohan Ponnusamy , Power Richard , Smyth Gordon , Little Dilly M. 
Published: May 2020

AbstractIntroductionFew studies investigate significant perioperative predictors for long‐term renal allograft survival after second kidney transplant (SKT). We compared long‐term survival following SKT with primary kidney transplant and determined predictors of renal allograft failure after SKT.MethodsOutcomes of all primary or second kidney transplant recipients at a national kidney transplant center between 1993 and 2017 were reviewed. The primary outcomes measurements were renal allograft survival for both first and second kidney transplants. Secondary outcome measurements were incidence of delayed graft function (DGF), incidence of acute rejection (AR), and predictors for renal allograft survival in SKT recipients.ResultsIn total, there were 392 SKTs and 2748 primary kidney transplants performed between 1993 and 2017. The 1‐, 5‐, and 10‐year death‐censored graft survival for deceased‐donor recipients was 95.3%, 88.7%, and 78.2% for primary kidney transplant and 94.9%, 87.1%, and 74.9% for SKT (P = .0288). Survival of primary renal allograft <6 years (HR 0.6, P = .017), AR episodes (HR 1.6, P = .031), DGF (HR 2.0, P = .005), and HLA‐DR MM (HR 1.7, P = .018) was independent predictors of long‐term renal allograft failure after SKT.ConclusionThese findings may provide important information on long‐term survival outcomes after SKT and for identifying patients at risk for long‐term renal allograft failure after SKT.
Early effects of first‐line treatment with anti‐interleukin‐6 receptor antibody tocilizumab for chronic active antibody‐mediated rejection in kidney transplantation
Authors: Lavacca Antonio , Presta Roberto , Gai Chiara , Mella Alberto , Gallo Ester , Camussi Giovanni , Abbasciano Isabella , Barreca Antonella , Caorsi Cristiana , Fop Fabrizio , Messina Maria , Rossetti Maura , Biancone Luigi 
Published: May 2020

AbstractIntroductionChronic active antibody‐mediated rejection (cAMR) is a major determinant of late allograft failure. Rituximab/immunoglobulins (IVIg) + plasma exchange (PLEX) showed controversial results in cAMR treatment. Tocilizumab (TCZ), a humanized anti‐interleukin 6 receptor antibody, has been recently used as rescue therapy in patients non‐responsive to rituximab/IVIg/PLEX with favorable outcomes. Whether TCZ acts “per se” or requires a priming effect from previous treatments is currently unknown.MethodsFifteen patients with cAMR were treated with TCZ as a first‐line therapy and followed for a median time of 20.7 months.ResultsDespite the majority of patients experiencing advanced transplant glomerulopathy (TG) at diagnosis (60% with cg3), glomerular filtration rate and proteinuria stabilized during the follow‐up, with a significant reduction in donor‐specific antibodies. Protocol biopsies after 6 months demonstrated significant amelioration of microvascular inflammation and no TG, C4d deposition, or IF/TA progression. Gene‐expression and immunofluorescence analysis showed upregulation of three genes (TJP‐1, AKR1C3, and CASK) involved in podocyte, mesangial, and tubular restoration.ConclusionTocilizumab adopted as a first‐line approach in cAMR was associated with early serological and histological improvements and functional stabilization even in advanced TG, suggesting a role for the use of TCZ alone with the avoidance of unnecessary previous immunosuppressants.
Fat necrosis with an associated lymphocytic infiltrate represents a histopathologic clue that distinguishes cellular dermatofibroma from dermatofibrosarcoma protuberans
Authors: Schechter Shula A. , Bresler Scott C. , Patel Rajiv M. 
Published: May 2020

AbstractBackgroundCellular dermatofibromas (CDFs) and dermatofibrosarcoma protuberans (DFSP) can be challenging to differentiate from one another. Morphologically, both entities commonly extend into the subcutis, exhibit high cellularity with limited cytologic atypia and have a mixed fascicular‐to‐storiform growth pattern. We sought to evaluate the significance of fat necrosis with an associated lymphocytic infiltrate as a histopathologic clue for distinguishing CDFs from DFSP.MethodsWe identified cases in our pathology database with a primary diagnosis of CDF or DFSP. Punch or excisional biopsy specimens with extension into the subcutis were selected. Previously biopsied lesions and specimens that did not interact with the subcutis were excluded. Histopathologic features were evaluated in hematoxylin and eosin stained sections.ResultsFat necrosis with lymphocytic infiltrate was present in 20/20 cases of CDF. None of the 20 DFSP cases had fat necrosis with lymphocytic infiltrate although 4/20 had fat necrosis alone.ConclusionsFat necrosis with associated lymphocytic response can aid in the distinction between CDF and DFSP.
935. VACHELLIA ANEGADENSIS
Authors: Bárrios Sara , Hamilton Martin , Corcoran Marcella , Woodfield‐Pascoe Nancy , Clubbe Colin 
Published: May 2020

SummaryVachellia anegadensis (Britton) Seigler & Ebinger, a spiny tree endemic to the British Virgin Islands (BVI), a Caribbean UK Overseas Territory, is described and illustrated. It is one of the four known endemic plant species to occur in the BVI, an archipelago of only 153 km2. It has been assessed as Endangered (EN) based on the IUCN categories and criteria. Its botanical history and conservation status are described, and ex situ propagation discussed.
Histopathology of fluoroscopy‐induced radiation ulcer: a case series study in comparison with morphea
Authors: Liao Jia‐Bin , Chen WenChieh , Lee Herng‐Sheng , Wu Shiou‐Rong , Wei Kai‐Che 
Published: May 2020

SummaryBackground and objectivesHistopathologic diagnosis of fluoroscopy‐induced radiation ulcer (FIRU) can be challenging if the past history of radiation exposure is unknown. Morphea is the most important differential diagnosis. This study was intended to identify clinical and pathologic features that can be used to distinguish FIRU from morphea.Patients and methodsWe performed a retrospective study on 25 specimens from 15 patients with FIRU and 21 specimens from 21 patients with morphea. Clinical findings and pathological features were analyzed.ResultsThirteen of 15 patients (86.7 %) with FIRU underwent angioplasty for coronary artery disease, and eleven patients had lesions in the right subscapular area. Compared with morphea, FIRU patients were more likely to display non‐inflammatory infiltrates (28 %), bizarre fibroblasts (100 %), sclerosis (48 %), telangiectasia (96 %), vascular damage (64 %), and loss of skin appendages (100 %). In morphea, bizarre fibroblasts were rare (14 %), while telangiectasia (62 %) and loss of skin appendages (62 %) were variable. Loss of CD34+ cells and compression of elastic fibers could not be used to distinguish between FIRU and morphea.ConclusionsSkin lesion in the right subscapular area with presence of bizarre fibroblasts, sclerosis, telangiectasia, and loss of cutaneous appendages as seen with histology are highly characteristic of the radiation damage associated with fluoroscopic angiography.
Histopathologie des Röntgenulkus: Fallserie mit Vergleich zur zirkumskripten Sklerodermie
Authors: Liao Jia‐Bin , Chen WenChieh , Lee Herng‐Sheng , Wu Shiou‐Rong , Wei Kai‐Che 
Published: May 2020

ZusammenfassungHintergrund und ZieleDie histopathologische Diagnose eines Fluoroskopie‐induzierten Röntgenulkus (RU) kann eine Herausforderung darstellen, insbesondere wenn keine Informationen über eine vorausgegangene Strahlenexposition vorliegen. Die wichtigste Differenzialdiagnose ist die zirkumskripte Sklerodermie (ZS). Ziel dieser Studie war die Identifikation klinischer und histopathologischer Merkmale, mit deren Hilfe sich RU und ZS unterscheiden lassen.Patienten und MethodikWir führten eine retrospektive Studie an 25 Proben von 15 Patienten mit RU und 21 Proben von 21 Patienten mit ZS durch. Die klinischen Befunde und histopathologischen Merkmale wurden analysiert.ErgebnisseDreizehn von 15 RU‐Patienten (86,7 %) hatten sich wegen einer koronaren Herzkrankheit einer Angioplastie unterzogen, bei elf Patienten befanden sich die Läsionen unterhalb des rechten Schulterblatts. Im Vergleich zu ZS‐Patienten zeigten sich bei RU‐Patienten häufiger nichtentzündliche Infiltrate (28 %), atypische „bizarre“ Fibroblasten (100 %), Sklerosen (48 %), Teleangiektasien (96 %), Gefäßschäden (64 %) und Verlust von Hautanhangsgebilden (100 %). Bei der ZS waren bizarre Fibroblasten selten (14 %), während Teleangiektasien (62 %) und Verlust von Hautanhangsgebilden (62 %) unterschiedlich häufig auftraten. Der Verlust von CD34+‐Zellen und die Kompression elastischer Fasern waren nicht geeignet, um zwischen RU und ZS zu unterscheiden.SchlussfolgerungenHautläsionen im rechten subskapulären Bereich mit Nachweis von bizarren Fibroblasten, Sklerosen, Teleangiektasien und Verlust von Hautanhangsgebilden in der Histologie sind sehr charakteristisch für Strahlenschäden im Zusammenhang mit einer Durchleuchtung bei Angiographie.
Hautveränderungen bei internen Neoplasien
Authors: Alter Mareike , Mengoni Miriam , Gaffal Evelyn 
Published: May 2020

ZusammenfassungTumorerkrankungen innerer Organe können sich über charakteristische Hautveränderungen wie kutane Metastasen oder typische Effloreszenzen bei genetischen Tumor‐Syndromen äußern. Des Weiteren gibt es paraneoplastische Syndrome, welche dadurch gekennzeichnet sind, dass sie nur indirekt mit einer malignen Grunderkrankung in Verbindung stehen und selbst nicht maligne sind. Historisch werden „obligate“ von „fakultativen“ Paraneoplasien abgegrenzt, welche sich durch die Wahrscheinlichkeit einer möglichen Tumorassoziation unterscheiden. Dazu kommen noch unspezifische Hautsymptome, bei denen das Auftreten einer malignen Grunderkrankung eher gering ist. Eine weitere mögliche Einteilung richtet sich nach den pathophysiologischen Mechanismen, die den Hautveränderungen zugrunde liegen. Für den praktisch tätigen Dermatologen ist das Erkennen einer möglicherweise tumorassoziierten Dermatose vor allem deswegen von Bedeutung, da diese in vielen Fällen zur Erstdiagnose der malignen Grunderkrankung führen kann.
Endoscopic treatment of proton pump inhibitor‐refractory gastroesophageal reflux disease with anti‐reflux mucosectomy: Experience of 109 cases
Authors: Sumi Kazuya , Inoue Haruhiro , Kobayashi Yasutoshi , Iwaya Yugo , Abad Mary Raina Angeli , Fujiyoshi Yusuke , Shimamura Yuto , Ikeda Haruo , Onimaru Manabu 
Published: May 2020

AbstractObjectivesSome patients with gastroesophageal reflux disease (GERD) are refractory to proton pump inhibitor (PPI) therapy. Anti‐reflux mucosectomy (ARMS) is a minimally invasive endoscopic procedure for treatment of GERD. In this study, we retrospectively evaluated the outcomes of ARMS performed in patients with PPI‐refractory GERD at our institution.MethodsA total of 109 patients with PPI‐refractory GERD who underwent ARMS were retrospectively reviewed. Pre‐ and post‐ARMS questionnaire scores, acid exposure time (AET), DeMeester score, proximal extent, and PPI discontinuation rate were compared.ResultsThere was a significant improvement in the symptom score (P < 0.01) and 40–50% of patients were able to discontinue PPI after ARMS. In patients who were followed up for 3 years, sustained improvement in subjective symptoms was observed. AET and DeMeester score significantly improved after ARMS (P < 0.01); however, there was no significant improvement in proximal extent (P = 0.0846).ConclusionsAnti‐reflux mucosectomy is an effective minimally invasive therapy for patients with PPI‐refractory GERD. The therapeutic efficacy is attributable to suppression of acid backflow due to contraction of the scar tissue in cardia.
The evolutionary origins of natural pedagogy: Rhesus monkeys show sustained attention following nonsocial cues versus social communicative signals
Authors: Bettle Rosemary , Rosati Alexandra G. 
Published: May 2020

AbstractThe natural pedagogy hypothesis proposes that human infants preferentially attend to communicative signals from others, facilitating rapid cultural learning. In this view, sensitivity to such signals is a uniquely human adaptation and as such nonhuman animals should not produce or utilize these communicative signals. We test these evolutionary predictions by examining sensitivity to communicative cues in 206 rhesus monkeys (Macaca mulatta) using an expectancy looking time task modeled on prior work with infants. Monkeys observed a human actor who either made eye contact and vocalized to the monkey (social cue), or waved a fruit in front of her face and produced a tapping sound (nonsocial cue). The actor then either looked at an object (referential look) or looked toward empty space (look away). We found that, unlike human infants in analogous situations, rhesus monkeys looked longer at events following nonsocial cues, regardless of the demonstrator's subsequent looking behavior. Moreover younger and older monkeys showed similar patterns of responses across development. These results provide support for the natural pedagogy hypothesis, while also highlighting evolutionary changes in human sensitivity to communicative signals.
Attenuated brain responses to speech sounds in moderate preterm infants at term age
Authors: François Clément , Rodriguez‐Fornells Antoni , Teixidó Maria , Agut Thaïs , Bosch Laura 
Published: May 2020

AbstractRecent findings have revealed that very preterm neonates already show the typical brain responses to place of articulation changes in stop consonants, but data on their sensitivity to other types of phonetic changes remain scarce. Here, we examined the impact of 7–8 weeks of extra‐uterine life on the automatic processing of syllables in 20 healthy moderate preterm infants (mean gestational age at birth 33 weeks) matched in maturational age with 20 full‐term neonates, thus differing in their previous auditory experience. This design allows elucidating the contribution of extra‐uterine auditory experience in the immature brain on the encoding of linguistically relevant speech features. Specifically, we collected brain responses to natural CV syllables differing in three dimensions using a multi‐feature mismatch paradigm, with the syllable/ba/ as the standard and three deviants: a pitch change, a vowel change to/bo/ and a consonant voice‐onset time (VOT) change to/pa/. No significant between‐group differences were found for pitch and consonant VOT deviants. However, moderate preterm infants showed attenuated responses to vowel deviants compared to full terms. These results suggest that moderate preterm infants' limited experience with low‐pass filtered speech prenatally can hinder vowel change detection and that exposure to natural speech after birth does not seem to contribute to improve this capacity. These data are in line with recent evidence suggesting a sequential development of a hierarchical functional architecture of speech processing that is highly sensitive to early auditory experience.
Hypothermia as an adjuvant treatment in paediatric refractory or super‐refractory status epilepticus
Authors: Legriel Stephane 
Published: May 2020

Therapeutic hypothermia is among the adjuvant therapies suggested for refractory or super‐refractory status epilepticus (R/SR‐SE) in paediatric patients. Experimental evidence of neuroprotective and antiseizure effects provides a strong rationale for using therapeutic hypothermia in patients with status epilepticus. Thus, hypothermia between 20°C and 33°C in animals with status epilepticus is associated not only with significantly less neuronal damage, predominantly in the hippocampal CA1, CA2, and CA3 areas, but also with increased seizure latency and decreased seizure frequency and duration. Therapeutic hypothermia has rarely been used in paediatric R/SR‐SE. In the few reported cases, seizure control was markedly improved but nearly half the patients experienced recurrences after rewarming. Studies are needed to clarify the modalities and indications of therapeutic hypothermia in paediatric patients with R/SR‐SE.What this paper adds

Hypothermia at 20°C to 33°C is neuroprotective and has antiseizure effects in experimental status epilepticus.

In children, antiseizure effects are marked but recurrences after rewarming are common.
Repeat transesophageal echocardiography in infective endocarditis: An analysis of contemporary utilization
Authors: Shafiyi Aylin , Anavekar Nandan S. , Virk Abinash , Sohail M. Rizwan , Lahr Brian D. , DeSimone Daniel C. , Wilson Walter R. , Baddour Larry M. 
Published: May 2020

AbstractBackgroundCurrent guidelines from the American Heart Association (AHA) recommend repeating transesophageal echocardiography (TEE) in three to five days if there is high suspicion of IE despite an initial TEE that was negative. This recommendation, however, is based on limited published data.ObjectivesThis investigation attempts to identify specific factors that prompted repeat TEE and evaluate the yield of IE‐related findings demonstrated by repeat TEE as compared to initial or prior TEE.MethodsA retrospective cohort who had at least one repeat TEE during an index hospitalization or initial course of antimicrobial therapy for IE between January 2014 and September 2018. We assessed the impact of repeat TEE on IE diagnosis and patient management and included a comparative analysis of patients with initial TEE only.ResultsOverall, 59 (44.7%) of 132 IE patients underwent repeat TEE. In a comparative analysis that involved patients who had undergone an initial TEE only versus those who had repeat TEE, male gender (P = .029) and presence of a prosthetic valve or annuloplasty ring (P = .017) were significantly associated with repeat TEE. Importantly, 8 (17.4%) of repeat TEE were critical for IE diagnosis, 8 (17.4%) impacted antimicrobial management, and 11 (23.9%) supported cardiovascular surgical intervention.ConclusionsFrom a population‐based cohort of incident IE cases, repeat TEE was more frequently (44.7%) done in patients with suspect or proven IE and associated complications than anticipated. Repeat TEE remains pivotal in a contemporary practice that involves critical aspects of IE diagnosis and management.