bluuebunny/crossref_metadata_2025_split huggingface dataset:
The clinical and pathological features of plasma cell myeloma post solid organ transplantation
Authors: Ofori Kenneth , Soderquist Craig R. , Murty Vundavalli V. , Park David , Vlad George , Leeman‐Neill Rebecca J. , Lentzsch Suzanne , Alobeid Bachir , Bhagat Govind 
Published: August 2020

AbstractPlasma cell neoplasms (PCNs), comprising plasma cell myelomas (PCMs) and plasmacytomas, which occur after solid organ transplantation, represent rare subtypes of monomorphic post‐transplant lymphoproliferative disorders (M‐PTLDs). Data regarding the clinical and pathological features of post‐transplant (PT)‐PCMs are limited. To gain a better understanding of disease biology, we performed comprehensive immunophenotypic analysis, reviewed cytogenetic analysis results and evaluated clinical outcomes of PT‐PCMs diagnosed and treated at our institution. Fifteen PT‐PCM (M: F ‐ 4:1) and two PT‐MGUS (two males) cases were identified. The median age of PT‐PCM patients was 68 years (29‐79 years) and PCMs presented at a median of 9.7 years (0.5‐24.7 years) after transplantation. The PT‐PCMs accounted for 11.6% of all M‐PTLDs and the period prevalence was 9/3108 (0.29%), 3/1071 (0.28%), 2/1345 (0.15%) and 1/878 (0.11%) post kidney, heart, liver and lung transplantation. Lytic bone disease was observed in 1/11 (9%) patients. Marrow plasma cell infiltration ranged from 10%‐70% (median 20%), with 10/15 (67%) and 5/15 (33%) cases manifesting immature and plasmablastic morphology. The immunophenotype of all cases and cytogenetic abnormalities, identified in 60% of cases, were similar to multiple myeloma (MM) of immunocompetent individuals. All PT‐PCMs were EBER negative. Ten of 11 (91%) patients with active MM were treated, all with proteasome inhibitor‐based therapy. Treatment response and 5‐year overall survival (54.5%) was comparable to MM of immunocompetent individuals. However, the survival of patients with plasmablastic PCMs was inferior to those with immature PCMs. 0ur findings indicate PT‐PCMs to be predominantly late onset PTLDs that have similar clinicopathologic characteristics as conventional MM.
Natural history of achondroplasia: A retrospective review of longitudinal clinical data
Authors: Okenfuss Ericka , Moghaddam Billur , Avins Andrew L. 
Published: August 2020

AbstractThere are limited data on the longitudinal frequency and severity of the symptoms and complications of achondroplasia. We undertook a retrospective electronic chart review of 114 patients to develop a more thorough understanding of the lifetime impact of achondroplasia. Craniocervical stenosis (involving the foramen magnum with or without cervical vertebrae C1 and/or C2) was noted in nearly 50% of patients with craniovertebral junction imaging; however, corrective decompression surgery was only needed in 6% of patients. No children in our cohort died at 4 years of age or under. Kyphosis was present in most patients but usually resolved in early childhood. Cervical and lumbar stenosis were diagnosed in children and adults while, genu varum, elbow contractures, and radial head dislocations were identified during childhood. Central sleep apnea and obstructive sleep apnea were present in children, while the diagnosis of obstructive sleep apnea was shown to recur in adulthood. Cardiovascular risk factors were present in only 7% of patients. A range of mental health disorders were identified, with most diagnoses being made before 18 years of age. Our data show that achondroplasia has a significant impact on patients' physical health, and complications continue to be reported and require intervention throughout patients' lifetimes. This highlights the need for continuous support beyond pediatric care, by adult care clinicians experienced with managing the long‐term complications of achondroplasia.
Ophthalmic genetics practice and research in India: Vision in 2020
Authors: Bansal Mayank , Tandon Radhika , Saxena Rohit , Sharma Arundhati , Sen Sagnik , Kishore Alisha , Venkatesh Pradeep , Maiti Souvik , Chakraborty Debojyoti 
Published: August 2020

AbstractOphthalmic genetics is a much needed and growing area in India. Ethnic diversity, with a high degree of consanguinity, has led to a high prevalence of genetic disorders in the country. As the second most populous country in the world, this naturally results in a significant number of affected people overall. Practice involves coherent association between ophthalmologists, genetic counselor and pediatricians. Eye genetics in India in recent times has witnessed advanced research using cutting edge diagnostics, next generation sequencing (NGS) approaches, stem cell therapies, gene therapy and genomic editing. This article will highlight the studies reporting genetic variations in the country, challenges in practice, and the latest advances in ophthalmic genetic research in India.
Inherited eye diseases in Turkey: Current approaches and future directions
Authors: Yaylacioglu Tuncay Fulya , Guntekin Ergun Sezen , Oner Ayse , Turan Ayse , Ozmert Emin , Ergun Mehmet Ali , Ozdek Sengul 
Published: August 2020

AbstractThe aim of this review is to reveal Turkey's current status of medical practice in inherited eye diseases and the necessary steps to improve healthcare services and research activities in this area. Since consanguinity rate is high, disease burden is estimated to be high in Turkey. Universal health insurance system, easily accessible medical specialists, increasing genetic test, and counseling opportunities are the key advantages of Turkey's healthcare system. However, specialized clinics for inherited eye diseases, low‐vision rehabilitation services, training of ophthalmologists about the recent developments in ocular genetics, and multidisciplinary translational research are the main headlines needed to be focused for better health services and successful research in Turkey.
Introduction to the special issue on Ophthalmic Genetics: Vision in 2020
Authors: Hufnagel Robert B. , Walter Michael A. , Arno Gavin 
Published: August 2020

AbstractIn this special issue of the American Journal of Medical Genetics, Part C, we explore the ever‐expanding field of Ophthalmic Genetics. The eye is unique among organs for its accessibility to physical examination, permitting exploration of every tissue by slit lamp microscopy, ophthalmoscopy, and imaging including color and autofluorescent photography, ultrasound, optical coherence tomography (OCT), electrophysiology, and adaptive optics confocal and scanning laser ophthalmoscopy. This accessibility permits a variety of surgical and nonsurgical treatments, including the first FDA‐approved gene therapy, voretigene neparvovec‐rzyl for RPE65‐associated Leber Congenital Amaurosis. In this issue, we sought to provide a survey highlighting how heritable ophthalmic disorders are recognizable and accessible to clinical geneticists as well as ophthalmologists.
Assessing thoraco‐pelvic covariation in Homo sapiens and Pan troglodytes: A 3D geometric morphometric approach
Authors: Torres‐Tamayo Nicole , Martelli Sandra , Schlager Stefan , García‐Martínez Daniel , Sanchis‐Gimeno Juan Alberto , Mata‐Escolano Federico , Nalla Shahed , Ogihara Naomichi , Oishi Motoharu , Bastir Markus 
Published: August 2020

AbstractObjectivesUnderstanding thoraco‐pelvic integration in Homo sapiens and their closest living relatives (genus Pan) is of great importance within the context of human body shape evolution. However, studies assessing thoraco‐pelvic covariation across Hominoidea species are scarce, although recent research would suggest shared covariation patterns in humans and chimpanzees but also species‐specific features, with sexual dimorphism and allometry influencing thoraco‐pelvic covariation in these taxa differently.Material and MethodsN = 30 adult H. sapiens and N = 10 adult Pan troglodytes torso 3D models were analyzed using 3D geometric morphometrics and linear measurements. Effects of sexual dimorphism and allometry on thoraco‐pelvic covariation were assessed via regression analyses, and patterns of thoraco‐pelvic covariation in humans and chimpanzees were computed via Two‐Block Partial Least Squares analyses.ResultsResults confirm the existence of common aspects of thoraco‐pelvic covariation in humans and chimpanzees, and also species‐specific covariation in H. sapiens that is strongly influenced by sexual dimorphism and allometry. Species‐specific covariation patterns in chimpanzees could not be confirmed because of the small sample size, but metrics point to a correspondence between the most caudal ribs and iliac crest morphology that would be irrespective of sex.ConclusionsThis study suggests that humans and chimpanzees share common aspects of thoraco‐pelvic covariation but might differ in others. In humans, torso integration is strongly influenced by sexual dimorphism and allometry, whilst in chimpanzees it may not be. This study also highlights the importance not only of torso widths but also of torso depths when describing patterns of thoraco‐pelvic covariation in primates. Larger samples are necessary to support these interpretations.
Persistent left superior vena cava with partial anomalous venous return in a liver transplant patient
Authors: Milam A. J. , Tou E. , Lam P. , Wachsman A. M. , Gereboff A. 
Published: August 2020

SummaryInsertion of central venous catheters is commonly performed on critically ill patients. Successful placement requires knowledge of vascular anatomy, but vascular anomalies may pose difficulties during insertion and confirmation of catheter position. This report describes the incidental discovery of a persistent left superior vena cava emptying into a pulmonary vein with partial anomalous pulmonary venous return to the left innominate vein and ultimately into the right superior vena cava, after placement of a left internal jugular central line in a patient presenting for liver transplant. We discuss the clinical implications of persistent left superior vena cava and the steps we took to evaluate catheter position.
Isorhamnetin attenuates TNF‐α‐induced inflammation, proliferation, and migration in human bronchial epithelial cells via MAPK and NF‐κB pathways
Authors: Ren Xiaojie , Han Longyin , Li Yongxing , Zhao Huanyi , Zhang Ziyin , Zhuang Yuerong , Zhong Ming , Wang Qiang , Ma Wuhua , Wang Yong 
Published: August 2020

AbstractIsorhamnetin has distinct anti‐inflammatory activity and inhibits cell proliferation and migration. These effects are also involved in the pathogenesis of asthma. However, the effect of isorhamnetin on bronchial epithelial cells in patients with asthma has not been examined. Cells of human bronchial epithelial cell line BEAS‐2B were cultured with isorhamnetin and tumor necrosis factor (TNF)‐α. The effects of isorhamnetin on BEAS‐2B cell viability were assessed using CCK8 assay. The EdU (5‐ethynyl‐2′‐deoxyuridine) cell proliferation assay was performed to assess cell proliferation. BEAS‐2B cell migration was measured using Transwell and wound healing assays. Real‐time PCR and enzyme‐linked immunosorbent assay were conducted to measure the expression of pro‐inflammatory cytokines. Protein expression levels were determined by western blotting. Immunofluorescence was used to detect nuclear translocation of nuclear factor kappa B (NF‐κB). We found that isorhamnetin at 20 and 40 μM reduced the proliferation of BEAS‐2B cells induced by TNF‐α. Isorhamnetin significantly decreased the expression of interleukin (IL)‐1β, IL‐6, IL‐8, and C‐X‐C motif chemokine ligand 10 in BEAS‐2B cells induced by TNF‐α. Additionally, 10 μM isorhamnetin effectively reduced cell migration induced by TNF‐α. Treatment with isorhamnetin inhibited the phosphorylation of mitogen‐activated protein kinase (MAPK) and NF‐κB pathways induced by TNF‐α. In summary, isorhamnetin inhibited the inflammation, proliferation, and migration of BEAS‐2B cells by regulating the MAPK and NF‐κB signaling pathways and is a drug candidate for asthma.
Eye‐Tracking Reveals Absent Repetition Learning Across the Autism Spectrum: Evidence From a Passive Viewing Task
Authors: Gaigg Sebastian B. , Krug Marie K. , Solomon Marjorie , Roestorf Amanda , Derwent Claire , Anns Sophie , Bowler Dermot M. , Rivera Susan , Nordahl Christine Wu , Jones Emily J. H. 
Published: August 2020

In the domain of memory, autism is characterized by difficulties in explicitly remembering the specific order of stimuli, whereas implicit serial order memory appears to be preserved. This pattern is of considerable interest because serial order memory is known to play a critical role in children's language development. Currently, however, few paradigms exist that can effectively probe serial order memory across heterogeneous groups of children, including those who are minimally verbal. We present two experiments, involving 39 adults (20 ASD; 19 TD) and 130 children (86 ASD; 44 TD), that address this issue using an eye‐tracking paradigm, which simply required participants to “watch out for a bunny” that appeared in repeating sequences of screen locations. The adults in Experiment 1 all had normative IQs, whereas Experiment 2 included children with and without substantial language and intellectual difficulties. In both experiments gaze latencies and anticipatory fixations to the bunny indicated reliable repetition learning effects in the TD but not the ASD groups. Importantly, we were able to acquire reliable data from around half of the children with significant language impairments in Experiment 2, indicating that the paradigm can shed light on important learning processes in this underrepresented group. We discuss the implications of these findings for theories of memory in ASD as well as for the utility of eye‐tracking technology to probe repetition learning effects in autism. Autism Res 2020, 13: 1929‐1946. © 2020 The Authors. Autism Research published by International Society for Autism Research and Wiley Periodicals LLC.Lay SummaryRemembering the specific order of stimuli plays an important role in language development and is thought to be a source of difficulty for autistic individuals. Research in this area, however, rarely includes autistic participants who are minimally verbal. Here we develop an eye‐tracking paradigm that demonstrates serial order learning difficulties across the autism spectrum. We discuss the implications of these findings for our understanding of the role of memory difficulties in the varied language profiles across the autism spectrum.
Impact of Bisphenol A on neural tube development in 48‐hr chicken embryos
Authors: Atay Emre , Ertekin Ayşe , Bozkurt Erhan , Aslan Esra 
Published: August 2020

AbstractObjectivesBisphenol A (BPA) is one of the most heavily produced chemicals in the world. BPA is involved in the production of many substances such as cosmetics, various foodstuffs, toys, personal care products, detergents and plastic bottles all that are frequently used in daily life. Depending on BPA exposure, sexual maturation and reproductive function, and bone and brain development are adversely affected. The aim of this study is to investigate the possible effects of BPA on the development of the nervous system and neural tube in 48‐hr chicken embryos.MethodsThirty specific pathogen‐free (SPF) fertilized eggs were used in the study. SPF eggs were placed in the incubator and divided into three groups at 28 hr of incubation; control, BPA 1 and BPA 2 (10 eggs in each group). At this stage of incubation, two different doses of BPA were injected sub‐blastodermically with the Hamilton microinjector. At the end of 48 hr of incubation, all eggs were opened and embryos were dissected and separated from the embryonic membrane. All embryos were evaluated morphologically and histopathologically.ResultsAs the BPA dose increased, delays in the development of the nervous system and midline closure increased in the early period of chicken embryos. Depending on the dose, it was found that the embryo's crown‐rump length and somite number decreased (p < .05).ConclusionIt was determined that BPA application on early chicken embryos adversely affected neural tube development. It was also found to delay midline closure.
‘Omics driven discoveries of gene targets for apoptosis attenuation in CHO cells
Authors: Orellana Camila A. , Martínez Verónica S. , MacDonald Michael A. , Henry Matthew N. , Gillard Marianne , Gray Peter P. , Nielsen Lars K. , Mahler Stephen , Marcellin Esteban 
Published: August 2020

AbstractChinese hamster ovary (CHO) cells are widely used in biopharmaceutical production. Improvements to cell lines and bioprocesses are constantly being explored. One of the major limitations of CHO cell culture is that the cells undergo apoptosis, leading to rapid cell death, which impedes reaching high recombinant protein titres. While several genetic engineering strategies have been successfully employed to reduce apoptosis, there is still room to further enhance CHO cell lines performance. ‘Omics analysis is a powerful tool to better understand different phenotypes and for the identification of gene targets for engineering. Here, we present a comprehensive review of previous CHO 'omics studies that revealed changes in the expression of apoptosis‐related genes. We highlight targets for genetic engineering that have reduced, or have the potential to reduce, apoptosis or to increase cell proliferation in CHO cells, with the final aim of increasing productivity.
Can dementia be predicted using olfactory identification test in the elderly? A Bayesian network analysis
Authors: Ding Ding , Liang Xiaoniu , Xiao Zhenxu , Wu Wanqing , Zhao Qianhua , Cao Yang 
Published: August 2020

AbstractBackgroundPrevious studies suggest that olfactory dysfunction is associated with cognitive decline or dementia.ObjectiveTo find a potential association between the olfactory identification (OI) and dementia onset, and build a prediction model for dementia screening in the older population.MethodsNine hundred and forty‐seven participants from the Shanghai Aging Study were analyzed. The participants were dementia‐free and completed OI test using the Sniffin’ Sticks Screening Test‐12 at baseline. After an average of 4.9‐year follow‐up, 75 (8%) of the participants were diagnosed with incident dementia. Discrete Bayesian network (DBN) and multivariable logistic regression (MLR) models were used to explore the dependencies of the incident dementia on the baseline demographics, lifestyles, and OI test results.ResultsIn DBN analysis, odors of orange, cinnamon, peppermint, and pineapple, combined with age and Mini‐mental State Examination (MMSE), achieved a high predictive ability for incident dementia, with an area under the receiver operating characteristic curve (AUC) larger than 0.8. The odor cinnamon showed the highest AUC of 0.838 (95% CI: 0.731–0.946) and a high accuracy of 0.867. The DBN incorporating age, MMSE, and one odor test had an accuracy (0.760–0.872 vs. 0.835) comparable to that of the MLR model and revealed the dependency between the variables.ConclusionThe DBN using OI test may have predictive ability comparable to MLR analysis and suggest potential causal relationship for further investigation. Identification of odor cinnamon might be a useful indicator for dementia screening and deserve further investigation.
Spectroscopy integration to miniature bioreactors and large scale production bioreactors–Increasing current capabilities and model transfer
Authors: Rowland‐Jones Ruth C. , Graf Alexander , Woodhams Angus , Diaz‐Fernandez Paloma , Warr Steve , Soeldner Robert , Finka Gary , Hoehse Marek 
Published: August 2020

AbstractSpectroscopy techniques are being implemented within the biopharmaceutical industry due to their non‐destructive ability to measure multiple analytes simultaneously, however, minimal work has been applied focussing on their application at small scale. Miniature bioreactor systems are being applied across the industry for cell line development as they offer a high‐throughput solution for screening and process optimization. The application of small volume, high‐throughput, automated analyses to miniature bioreactors has the potential to significantly augment the type and quality of data from these systems and enhance alignment with large‐scale bioreactors. Here, we present an evaluation of 1. a prototype that fully integrates spectroscopy to a miniature bioreactor system (ambr®15, Sartorius Stedim Biotech) enabling automated Raman spectra acquisition, 2. In 50 L single‐use bioreactor bag (SUB) prototype with an integrated spectral window. OPLS models were developed demonstrating good accuracy for multiple analytes at both scales. Furthermore, the 50 L SUB prototype enabled on‐line monitoring without the need for sterilization of the probe prior to use and minimal light interference was observed. We also demonstrate the ability to build robust models due to induced changes that are hard and costly to perform at large scale and the potential of transferring these models across the scales. The implementation of this technology enables integration of spectroscopy at the small scale for better process understanding and generation of robust models over a large design space while facilitating model transfer throughout the scales enabling continuity throughout process development and utilization and transfer of ever‐increasing data generation from development to manufacturing.
Transcatheter mitral valve in ring, hazards of long anterior mitral leaflet and 3‐dimensional rings
Authors: Sekaran Nishant , Horne Benjamin D. , Doty John R. , Reid Bruce B. , Miner Edward C. , Harkness James R. , Jones Kent W. , Minder Camille Michael , Caine William T. , Clayson Stephen E. , Whisenant Brian K. 
Published: August 2020

AbstractObjectivesThe purpose of this study was to define anterior mitral leaflet (AML) length and mitral ring characteristics associated with LVOT obstruction and PVL following MViR.BackgroundTranscatheter Mitral Valve in Ring (MViR) procedural complications including parvalvular leak (PVL) and left ventricular outflow tract (LVOT) obstruction are frequent.MethodsClinical records, computer tomographic scans (CTs) and echocardiograms of consecutive MViR patients were retrospectively reviewed for anterior mitral leaflet length, CT‐simulated neoLVOT, and aortomitral angle among patients with and without MViR‐induced LVOT obstruction. Acute and 1‐year outcomes are described.ResultsTwenty‐two patients underwent MViR. Technical success was achieved in 13/22 (57.1%) patients, limited by paravalvular regurgitation requiring second transcatheter heart valves (THVs) in seven patients. Second valves were needed in 6/11 (54.5%) patients with 3‐dimensional rings but 1/11 (9.1%, p = .06) of patients with planar rings. Procedure success at 30 days was achieved in 20/22 (90.9%) patients. There were no procedural, in‐hospital, or 30‐day deaths. Two patients developed significant LVOT obstruction, one managed with urgent surgery and one with elective alcohol septal ablation. Anterior mitral leaflets were longer among the two patients with LVOT obstruction than the 20 patients who did not develop LVOT obstruction when measured by TEE (30 mm vs. 21 mm, p = .009) or by CT (29 mm vs. 22 mm, p = .026).ConclusionsAML >25 mm increases the risk of MViR induced LVOT obstruction. PVL is common, particularly in 3‐dimensional rings which can be managed with a second THV.