bluuebunny/crossref_metadata_2025_split huggingface dataset:
Cryosurgical ablation for treatment of rhinitis: A prospective multicenter study
Authors: Chang Michael T. , Song Sunhee , Hwang Peter H. 
Published: October 2019

ObjectiveTo assess the efficacy and safety of cryoablation of the posterior nasal nerve (PNN) for treatment of chronic rhinitis.MethodsThis was a prospective single‐arm trial of 98 adult patients at six U.S. centers with chronic allergic and nonallergic rhinitis. PNN cryoablation was performed in‐office under local anesthesia using a handheld device. Patients discontinued use of intranasal ipratropium 3 days prior to treatment and throughout the study period. Reflective Total Nasal Symptom Score (rTNSS) was measured at pretreatment baseline and posttreatment at 1 month, 3 months, 6 months, and 9 months. The Rhinoconjunctivitis Quality of Life Questionnaire (RQLQ) was completed at pretreatment and 3 months posttreatment. Adverse effects and postprocedure medication usage were recorded.ResultsNinety‐eight procedures (100%) were successfully completed. rTNSS significantly improved over pretreatment baseline (6.1 ± 1.9) at 1 month (2.9 ± 1.9, P < 0.001), 3 months (3.0 ± 2.3, P < 0.001), 6 months (3.0 ± 2.1, P < 0.001), and 9 months (3.0 ± 2.4, P < 0.001) postprocedure. Nasal congestion and rhinorrhea subscores improved significantly at all time points (P < 0.001). Both allergic and nonallergic rhinitis subcohorts showed improvement (P < 0.001), with a comparable degree of improvement between groups. RQLQ significantly improved over pretreatment baseline (3.0 ± 1.0) at 3 months (1.5 ± 1.0, P < 0.001), and all RQLQ subdomains demonstrated improvement. Of 54 patients using intranasal medication at baseline, 19 (35.2%) were able to discontinue use. Twenty‐nine adverse effects were reported, including headache, epistaxis, and sinusitis.ConclusionCryoablation of the PNN for chronic rhinitis is safe and can result in relief of nasal symptoms and improvements in quality of life.Level of Evidence4 Laryngoscope, 130: 1877–1884, 2020
Sinonasal Oncocytic Papilloma—A Series of 20 Cases With Special Emphasis on Recurrences
Authors: Lilja Markus , Viitasalo Sanna , Hytönen Maija , Haapaniemi Aaro , Hagström Jaana , Mäkitie Antti 
Published: October 2019

ObjectiveReports on sinonasal oncocytic papilloma (SNOP) are scarce. The aim of this retrospective study was to evaluate the clinical features of this rarest form of sinonasal papilloma with special emphasis on the pattern of recurrences and on the potential factors predicting them.Study DesignRetrospective study.MethodsBetween the years 1994 and 2016, 20 patients (mean age 66 years; range 30–87) were diagnosed with SNOP at the Department of Otorhinolaryngology–Head and Neck Surgery, HUS Helsinki University Hospital (Helsinki, Finland). Hospital charts were reviewed to record various medical and sociodemographic patient characteristics, and the archived histological specimens were re‐evaluated. Postoperative follow‐up time varied between 26 days and 167 months.ResultsMaxillary sinus was the most common (60%) tumor location. None of the tissue samples showed dysplasia. Recurrence rate was 39% and the median time span to the first recurrence was 25 months (range 7–71). Smokers had more often a recurrence than nonsmokers (75% vs. 31%). Patients with perioperative purulent rhinosinusitis during the primary surgery had a higher recurrence rate compared with those without (60% vs. 31%). Tumors located in the sinuses recurred more often than those located in the nasal cavity (45% vs. 29%). However, all these findings remained statistically nonsignificant. None of the cases showed malignant transformation during the follow‐up.ConclusionSNOP has a propensity to recur. History of smoking, purulent rhinosinusitis during the primary surgery, and tumor location in the sinuses outside the nasal cavity seem to contribute to an increased trend in the risk of recurrence.Level of Evidence4
Time‐varying responses of lake metabolism to light and temperature
Authors: Phillips Joseph S. 
Published: October 2019

AbstractLight is a primary driver of lake ecosystem metabolism, and the dependence of primary production on light is often quantified as a photosynthesis‐irradiance or “P‐I” curve. The parameters of the P‐I curve (e.g., the maximum primary production when light is in excess) can change through time due to a variety of biological factors (e.g., changes in biomass or community composition), which themselves are subject to external drivers (e.g., herbivory or nutrient availability). However, the relative contribution of variation in the P‐I curve to overall ecosystem metabolism is largely unknown. I developed a statistical model of ecosystem metabolism with time‐varying parameters governing the P‐I curve, while also accounting for the influence of temperature. I parameterized the model with dissolved oxygen time series spanning six summers from Lake Mývatn, a shallow eutrophic lake in northern Iceland with large temporal variability in ecosystem metabolism. All of the estimated parameters of the P‐I curve varied substantially through time. The sensitivity of primary production to light under light‐limiting conditions was particularly variable (>15‐fold) and had a compensatory relationship with ambient light levels. However, the 3.5‐fold variation in the maximum potential primary production made the largest contribution to variation in ecosystem metabolism, accounting for around 90% of the variance in net ecosystem production. Much of the variation in maximum primary production was attributable to cyanobacterial blooms, which occur in some but not all years in Mývatn. Overall, these results illustrate how changes in the P‐I curve contribute substantially to temporal variation in lake ecosystem metabolism.
Insights into the genome structure of four acetogenic bacteria with specific reference to the Wood–Ljungdahl pathway
Authors: Esposito Alfonso , Tamburini Sabrina , Triboli Luca , Ambrosino Luca , Chiusano Maria Luisa , Jousson Olivier 
Published: October 2019

AbstractAcetogenic bacteria are obligate anaerobes with the ability of converting carbon dioxide and other one‐carbon substrates into acetate through the Wood–Ljungdahl (WL) pathway. These substrates are becoming increasingly important feedstock in industrial microbiology. The main potential industrial application of acetogenic bacteria is the production of metabolites that constitute renewable energy sources (biofuel); such bacteria are of particular interest for this purpose thanks to their low energy requirements for large‐scale cultivation. Here, we report new genome sequences for four species, three of them are reported for the first time, namely Acetobacterium paludosum DSM 8237, Acetobacterium tundrae DSM 917, Acetobacterium bakii DSM 8239, and Alkalibaculum bacchi DSM 221123. We performed a comparative genomic analysis focused on the WL pathway's genes and their encoded proteins, using Acetobacterium woodii as a reference genome. The Average Nucleotide Identity (ANI) values ranged from 70% to 95% over an alignment length of 5.4–6.5 Mbp. The core genome consisted of 363 genes, whereas the number of unique genes in a single genome ranged from 486 in A. tundrae to 2360 in A.bacchi. No significant rearrangements were detected in the gene order for the Wood–Ljungdahl pathway however, two species showed variations in genes involved in formate metabolism: A. paludosum harbor two copies of fhs1, and A. bakii a truncated fdhF1. The analysis of protein networks highlighted the expansion of protein orthologues in A. woodii compared to A. bacchi, whereas protein networks involved in the WL pathway were more conserved. This study has increased our understanding on the evolution of the WL pathway in acetogenic bacteria.
Effects of applying inorganic fertilizer and organic manure for 35 years on the structure and diversity of ammonia‐oxidizing archaea communities in a Chinese Mollisols field
Authors: Ding Jianli , Ma Mingchao , Jiang Xin , Liu Yao , Zhang Junzheng , Suo Linna , Wang Lei , Wei Dan , Li Jun 
Published: October 2019

AbstractIn this study, we investigated the physicochemical properties of soil, and the diversity and structure of the soil ammonia‐oxidizing archaea (AOA) community, when subjected to fertilizer treatments for over 35 years. We collected soil samples from a black soil fertilization trial in northeast China. Four treatments were tested: no fertilization (CK); manure (M); nitrogen (N), phosphorus (P), and potassium (K) chemical fertilizer (NPK); and N, P, and K plus M (MNPK). We employed 454 high‐throughput pyrosequencing to measure the response of the soil AOA community to the long‐term fertilization. The fertilization treatments had different impacts on the shifts in the soil properties and AOA community. The utilization of manure alleviated soil acidification and enhanced the soybean yield. The soil AOA abundance was increased greatly by inorganic and organic fertilizers. In addition, the community Chao1 and ACE were highest in the MNPK treatment. In terms of the AOA community composition, Thaumarchaeota and Crenarchaeota were the main AOA phyla in all samples. Compared with CK and M, the abundances of Thaumarchaeota were remarkably lower in the MNPK and NPK treatments. There were distinct shifts in the compositions of the AOA operational taxonomic units (OTUs) under different fertilization management practices. OTU51 was the dominant OTU in all treatments, except for NPK. OTU79 and OTU11 were relatively abundant OTUs in NPK. Only Nitrososphaera AOA were tracked from the black soil. Redundancy analysis indicated that the soil pH and soil available P were the two main factors that affected the AOA community structure. The abundances of AOA were positively correlated with the total N and available P concentrations, and negatively correlated with the soil pH.
Sensory Tricks in Pantothenate Kinase‐Associated Neurodegeneration: Video‐Analysis of 43 Patients
Authors: Martins Joana , Darling Alejandra , Garrido Cristina , Espinós Carmen , Martí María José , Dueñas Belen Pérez , Temudo Teresa 
Published: October 2019

ABSTRACTBackgroundSensory tricks are a classic hallmark of primary dystonia and result in specific maneuvers that temporarily improve dystonic posture or movement. Pantothenate kinase‐associated neurodegeneration (PKAN) is a progressive neurological disorder that courses with prominent dystonia. Although previously described, sensory tricks are considered to be rare in PKAN.CasesWe reviewed videotaped motor examinations of 43 genetically confirmed patients with PKAN in order to identify and classify sensory tricks. All patients presented some feature of dystonia. Eighteen (42%) had one or more well‐structured sensory tricks. Twelve different sensory tricks were identified, eight typical and four atypical (forcible motor): four in cervical dystonia, four in limb dystonia, three in oromandibular dystonia, and one in blepharospasm. A characteristic forcible motor maneuver for oromandibular dystonia (previously described as the “mantis sign”) was present in 8 patients.ConclusionsSensory tricks are common in PKAN, particularly for oromandibular dystonia. The mantis sign may be a useful clue for the diagnosis.
Peripheral Blood Inflammatory Cytokines in Idiopathic REM Sleep Behavior Disorder
Authors: Kim Ryul , Jun Jin‐Sun , Kim Han‐Joon , Jung Ki‐Young , Shin Yong‐Won , Yang Tae‐Won , Kim Keun Tae , Kim Tae‐Joon , Byun Jung‐Ick , Sunwoo Jun‐Sang , Jeon Beomseok 
Published: October 2019

AbstractBackgroundAlthough previous research provides insight into the role of neuroinflammation in idiopathic REM sleep behavior disorder, the association of this disorder with peripheral blood inflammatory markers remains unclear.ObjectiveTo investigate inflammatory cytokines in plasma samples in patients with idiopathic rapid eye movement sleep behavior disorder and to explore whether these markers are associated with prodromal symptoms of α‐synucleinopathies.MethodsWe collected plasma from patients with polysomnographically confirmed idiopathic rapid eye movement sleep behavior disorder without parkinsonism or dementia (n = 54) and from healthy controls (n = 56). The following cytokines were measured: interleukin‐1β, interleukin‐2, interleukin‐6, interleukin‐10, and tumor necrosis factor‐α. The idiopathic REM sleep behavior disorder patients underwent sleep, motor, cognitive, olfactory, and autonomic testing.ResultsThe anti‐inflammatory cytokine, interleukin‐10, levels in the idiopathic rapid eye movement sleep behavior disorder group were significantly upregulated compared to the control group (P = 0.022), but this difference did not withstand Bonferroni correction. The other proinflammatory cytokine levels did not differ between the groups. No correlation was found between the cytokine levels and any clinical variable.ConclusionsOur data do not provide evidence supporting the role of peripheral inflammation in idiopathic rapid eye movement sleep behavior disorder. However, considering the limited statistical power because of the small sample size, further large‐scale longitudinal studies with a broader spectrum of cytokines are needed to clarify this issue. © 2019 International Parkinson and Movement Disorder Society
Osteosarcoma without prior retinoblastoma related to RB1 low‐penetrance germline pathogenic variants: A novel type of RB1‐related hereditary predisposition syndrome?
Authors: Imbert‐Bouteille Marion , Gauthier‐Villars Marion , Leroux Dominique , Meunier Isabelle , Aerts Isabelle , Lumbroso‐Le Rouic Livia , Lejeune Sophie , Delnatte Capucine , Abadie Caroline , Pujol Pascal , Houdayer Claude , Corsini Carole 
Published: October 2019

AbstractBackgroundRetinoblastoma (Rb) is a rare intraocular malignant tumor in children with high overall survival. Predisposition to Rb is linked to RB1 germline mutations with high penetrance, but rare RB1 low‐penetrance variants are also known. Rb survivors are at risk of second primary malignancies (SPMs), mostly osteosarcoma and soft‐tissue sarcoma. Nevertheless, the risk of primary osteosarcoma developing without prior Rb has not been reported in RB1 germline mutation carriers.MethodsWe report a patient in whom osteosarcoma developed at age 17 as a first primary malignancy within a family context of sarcoma.ResultsUnexpectedly, genetic testing identified a low‐penetrance germline mutation in RB1 [NM_000321.2: c.45_76dup; p.(Pro26Leufs*50)]. In eight additional similar cases from published and unpublished reports of families, first primary osteosarcomas and sarcomas mostly developed in RB1 low‐penetrance mutation carriers without prior Rb.ConclusionWe propose that first primary sarcoma and osteosarcoma could be a novel clinical presentation of a RB1‐related hereditary predisposition syndrome linked to RB1 low‐penetrance germline mutations. In these families, careful screening of primary non‐Rb cancer and SPMs is required by maintaining enhanced clinical vigilance. Implementing lifelong periodic whole‐body MRI screening might be a complementary strategy for unaffected carrier relatives in these families.
Clinical value of genetic analysis in prenatal diagnosis of short femur
Authors: Liu Jialiu , Huang Linhuan , He Zhiming , Lin Shaobin , Wang Ye , Luo Yanmin 
Published: October 2019

AbstractBackgroundFetal femur length (FL) is an important biometric index in prenatal screening. The etiology of short femur is diverse, with some pathogenic causes leading to adverse outcomes. To improve the accuracy and practicability of diagnosis, we investigated the value of genetic analysis in prenatal diagnosis of short femur.MethodsWe examined chromosomal microarray analysis (CMA) (64 fetuses) and karyotyping (59 fetuses) data retrospectively for short femur without fetal growth restriction (FGR). Genetic testing was conducted for 15 fetuses.ResultsKaryotyping and CMA detected chromosomal aberrations at rates of 13.6% and 27.2%, respectively. Among fetuses with other abnormalities, detection rates were 21.0% higher with CMA than karyotyping. CMA identified chromosomal abnormalities in 36.4% of cases with a FL 2–4 standard deviations (SDs) below the gestational age (GA) mean. Abnormality detection by CMA reached 38.5% in the second trimester. Duplication of 12p, 16p13.1 deletion, and uniparental disomy 16 were identified by CMA in three cases of short femur. Gene sequencing detected clinically notable mutations in 12/15 fetuses, among which 9/12 fetuses had FLs >4 SDs below the GA mean.ConclusionsCMA yielded a higher detection value than karyotyping in fetuses with other abnormalities or a FL 2–4 SDs below the GA mean during the second trimester. Gene sequencing should be performed when FL is >4 SDs below the mean.
Genetic biomarkers related to hemarthrosis, inflammation, and cartilage structure in pediatric patients with hemophilic arthropathy
Authors: López‐Jiménez José de Jesús , Ortega‐Cervantes Ricardo , Luna‐Záizar Hilda , Fletes‐Rayas Ana‐Lilia , Beltrán‐Miranda Claudia‐Patricia , Troyo‐Sanromán Rogelio , Soto‐Padilla Janet , Tlacuilo‐Parra Alberto , Jaloma‐Cruz Ana‐Rebeca 
Published: October 2019

AbstractBackgroundThe pathophysiology of hemophilic arthropathy is complex and not completely understood. In this study, we aimed to identify biomarkers that can affect the hemophilic arthropathy severity.MethodsFifty patients were analyzed for biomarker frequencies; in 37 patients, articular symptoms were evaluated based on the physical joint examination score, and in 18, it was based on magnetic resonance imaging. Eight polymorphisms, namely FV 1691G>A, FII 20210G>A, MTHFR 677C>T and 1298A>C, TNFα‐308G>A and ‐238G>A, ACAN VNTR, and IL1RN*2‐VNTR were identified.ResultsPatients with the MTHFR 677TT genotype showed a higher number of affected joints (1.83 ± 0.9 vs. 0.55 ± 0.7 for CC; p = .023), whereas those with the MTHFR 1298AC genotype exhibited higher effusion according to two radiologists (0.90 ± 0.31/1.20 ± 0.63 vs. 0.38 ± 0.52/0.50 ± 0.53 for AA genotype; p = .043/0.036, respectively). In addition, patients with the TNFα‐308GA genotype had more subchondral cysts (0.75 ± 0.95 vs. 0.07 ± 0.26 for GG genotype; p = .041).ConclusionsThe distribution of risk genotypes for MTHFR and TNFα‐308GA suggests their association with clinical parameters of hemophilic arthropathy. Cohort studies are essential to verify these associations.
Non‐Cartesian slice‐GRAPPA and slice‐SPIRiT reconstruction methods for multiband spiral cardiac MRI
Authors: Sun Changyu , Yang Yang , Cai Xiaoying , Salerno Michael , Meyer Craig H. , Weller Daniel , Epstein Frederick H. 
Published: October 2019

PurposeSpiral MRI has advantages for cardiac imaging, and multiband (MB) spiral MRI of the heart shows promise. However, current reconstruction methods for MB spiral imaging have limitations. We sought to develop improved reconstruction methods for MB spiral cardiac MRI.MethodsTwo reconstruction methods were developed. The first is non‐Cartesian slice‐GRAPPA (NCSG), which uses phase demodulation and gridding operations before application of a Cartesian slice‐separating kernel. The second method, slice‐SPIRiT, formulates the reconstruction as a minimization problem that enforces in‐plane coil consistency and consistency with the acquired MB data, and uses through‐plane coil sensitivity information in the iterative solution. These methods were compared with conjugate‐gradient SENSE in phantoms and volunteers. Temporal alternation of CAIPIRINHA (controlled aliasing in parallel imaging results in higher acceleration) phase and the use of a temporal filter were also investigated.ResultsPhantom experiments with 3 simultaneous slices (MB = 3) showed that mean artifact power was highest for conjugate‐gradient SENSE, lower for NCSG, and lowest for slice‐SPIRiT. For volunteer cine imaging (MB = 3, N = 5), the artifact power was 0.182 ± 0.037, 0.148 ± 0.036, and 0.139 ± 0.034 for conjugate‐gradient SENSE, NCSG, and slice‐SPIRiT, respectively (P < .05, analysis of variance). Temporal alternation of CAIPIRINHA reduced artifacts for both NCSG and slice‐SPIRiT.ConclusionThe NCSG and slice‐SPIRiT methods provide more accurate reconstructions for MB spiral cine imaging compared with conjugate‐gradient SENSE. These methods hold promise for non‐Cartesian MB imaging.
Management of advanced uni‐ or bilateral retinoblastoma with macroscopic optic nerve invasion
Authors: Choucair Marie‐Louise , Brisse Hervé J. , Fréneaux Paul , Desjardins Laurence , Dorfmüller Georg , Puget Stéphanie , Dendale Rémi , Chevrier Marion , Doz François , Lumbroso‐Le Rouic Livia , Aerts Isabelle 
Published: October 2019

AbstractBackgroundRetinoblastoma with macroscopic optic nerve (ON) invasion depicted by imaging at diagnosis remains a major problem and carries a poor prognosis. We sought to describe the treatment and outcome of these high‐risk patients.MethodsRetrospective mono‐institutional clinical, radiological, and histological review of patients with uni‐ or bilateral retinoblastoma with obvious ON invasion, defined by radiological optic nerve enlargement (RONE) depicted by computed tomography scan or magnetic resonance imaging (MRI), was performed.ResultsBetween 1997 and 2014, among the 936 patients with retinoblastoma treated at Institut Curie, 11 had detectable RONE. Retinoblastoma was unilateral in 10 and bilateral in one. Median age at diagnosis was 28 months (range, 11‐96). ON enlargement extended to the orbital portion in three patients, to the optic canal in five, to the prechiasmatic portion in two, and to the optic chiasm in one. Nine patients received neoadjuvant chemotherapy and partial response was obtained in all. Enucleation was performed in 10/11 patients—by an anterior approach in three and by anterior and subfrontal approaches in seven. Three patients had a positive ON resection margin (2/3 after primary enucleation). All enucleated patients received adjuvant treatment (conventional chemotherapy: 10, high‐dose chemotherapy: seven, radiotherapy: five). Leptomeningeal progression occurred in four patients. Seven are in first complete remission (median follow up: 8 years [3.5‐19.4]).ConclusionNeoadjuvant chemotherapy and microscopic complete resection have a pivotal role in the management of retinoblastoma with RONE. MRI is recommended for initial and pre‐operative accurate staging. Surgery should be performed by neurosurgeons in case of posterior nerve invasion. Radiotherapy is required in case of incomplete resection.