bluuebunny/crossref_metadata_2025_split huggingface dataset:
Stapler Use in Salvage Total Laryngectomy: A Useful Tool?
Authors: Galli Jacopo , Salvati Antonio , Di Cintio Giovanni , Mastrapasqua Rodolfo F. , Parrilla Claudio , Paludetti Gaetano , Almadori Giovanni 
Published: May 2020

Objectives/HypothesisTo analyze stapler benefits in salvage total laryngectomy in terms of surgical time, hospitalization length, oral feeding time, and occurrence of pharyngocutaneous fistula, and to evaluate risk factors for its onset.Study DesignRetrospective analysis.MethodsOne hundred fourteen patients affected by endolaryngeal squamous cell carcinoma who underwent salvage total laryngectomy following primary treatment failure were reviewed. We divided patients into two groups based on type of pharyngeal suture performed: mechanical suture with stapler (group A) and manual suture (group B). These two groups were compared for surgical time, start of oral feeding, hospitalization length, surgical margins and pharyngocutaneous fistula incidence considering its relationship with diabetes mellitus, nutritional status, primary treatment, and neck dissection.ResultsIn group A and group B, oral feeding restarting time was 15 ± 9.33 versus 20.03 ± 13.81 days, hospitalization was 17.63 ± 10.08 versus 23.72 ± 14.29 days, and surgery lasted 268.39 ± 76.93 versus 294.26 ± 140.58 minutes, respectively (P < .05). Surgical margins resulted infiltrated in two patients (4.3%) in group A and 12 patients in group B (17.6%) (P = .03).Twenty‐one patients (18.4%) presented with pharyngocutanoeus fistula. In group A and group B the incidence of fistula was 15.2% and 20.6%, respectively (P = .468). Fistula occurred in 7 of 18 diabetic patients (38.9%) and 14 of 96 (14.6%) nondiabetic patients (P = .015). Nineteen fistulas (90.5%) occurred in patients who had undergone previous radiation treatment (P = .013).ConclusionsUsing a stapler shortened operative time and hospitalization, while also providing a faster restart of oral feeding. Moreover, mechanical pharyngeal suture seems to decrease fistula rate even though its prevention role in salvage laryngectomy should be confirmed by further studies.Level of Evidence4 Laryngoscope, 131:E473–E478, 2021
Experience With the Endoscopic Contralateral Transmaxillary Approach to the Petroclival Skull Base
Authors: Snyderman Carl H. , Gardner Paul A. , Wang Eric W. , Fernandez‐Miranda Juan C. , Valappil Benita 
Published: May 2020

Objectives/HypothesisThe contralateral transmaxillary (CTM) approach is a new surgical approach that improves the surgical trajectory relative to the petrous segment of the internal carotid artery (ICA). Here, we present our clinical experience with the CTM approach to the petroclival region of the skull base.Study DesignRetrospective review.MethodsA retrospective review of 29 patients who underwent a CTM approach for skull base pathology from 2015 to 2020 was performed. Assessment of gross total resection (GTR) was based on postoperative imaging.ResultsThe male:female ratio was 15:14, with an average age of 52 years (range = 19–78 years). Diagnoses included: 12 chondrosarcomas, 11 chordomas, two meningiomas, one schwannoma, one metastasis, one petrous apicitis, and one arachnoid cyst. CTM was performed in addition to a transclival approach and ipsilateral transpterygoid approach in all patients. Reconstruction of surgical defects included a vascularized flap in all but two patients: 24 nasoseptal flaps and three lateral nasal wall flaps. The reconstructive flap was on the same side as the CTM approach in 22 of 28 (79%) patients. There were no ICA injuries. In a subset of patients with chondromatous tumors, GTR of the targeted area was achieved in 16 of 22 (73%) evaluable chondromatous tumors. With a median follow‐up of 13 months, 64% of these patients are without disease or dead of other causes; the remainder are alive with disease.ConclusionsThe CTM approach improves the degree of resection of skull base tumors involving the petroclival region using an endoscopic endonasal approach and may minimize risk to the ICA.Level of Evidence4 Laryngoscope, 131:294–298, 2021
Office‐Based Lower Airway Endoscopy: Feasibility and Safety
Authors: Amador Eulalia , Tierney William S. , Hopkins Brandon 
Published: May 2020

ObjectivesThe primary aim of this study was to identify the ease and safety of office‐based lower airway endoscopy (OLAE) in patients with and without comorbidities. In addition, we identified the most common indications for OLAE and the associated diagnosis.MethodsA retrospective review on 567 patients and 706 in‐office flexible fiberoptic procedures was performed. Using a previously established grading system, the ease of visualization of the subglottis, trachea, and carina was assessed, in addition to the overall ease of the exam.ResultsFour hundred and eighty‐eight videos were available for review. Of those, 105 videos included an OLAE, accounting for 21.5% of all procedures. Laryngomalacia was the most common diagnosis in 35 of 105 (36%) OLAE. For all laryngomalacia cases, the overall ease was found to be on average 2.15 (standard error 0.12). Fisher exact testing showed a statistical significance in the ability to visualize the trachea between the types of Laryngomalacia (LM) (P = .035). Fisher exact testing was performed comparing LM types I, II, or III, and combined types of LM; no statistical difference was found between groups. In 4.76% of OLAE procedures, a subglottic pathology was diagnosed. Comorbidities were found in OLAE 26 of 105 patients. There were no complications identified.ConclusionWe found OLAE more challenging than previously reported. OLAE of combined types of laryngomalacia was subjectively more difficult, but this difference did not reach statistical significance. OLAE continues to be a safe alternative to operative laryngoscopy in pediatric patients and appears safe in those with comorbidities when precautions are taken.Level of Evidence4. Laryngoscope, 131:E649–E652, 2021
Clinical Significance of Spontaneous Portosystemic Shunts in Living Donor Liver Transplantation
Authors: Allard Marc‐Antoine , Akamatsu Nobuhisa , Kokudo Takashi , Kobayashi Kosuke , Kaneko Junichi , Ishizawa Takeaki , Arita Junichi , Hasegawa Kiyoshi 
Published: May 2020

Spontaneous portosystemic shunts (SPSS) are commonly observed in patients undergoing living donor liver transplantation (LDLT); however, their impact on the outcome after transplantation is unclear. We aimed to assess the type, size, and the effects of SPSS on outcomes after LDLT. A total of 339 LDLT recipients in a single institution were included. The type and diameter of the SPSS (splenorenal shunt [SRS], oesogastric shunt, and umbilical shunt) were retrospectively analyzed. A large shunt was defined as having a diameter ≤7 mm. No portal flow modulation was attempted over time. Portal complications were defined as stenosis, thrombosis, or hepatofugal flow requiring any treatment after transplantation. There were 202 (59.0%) patients who exhibited at least 1 large SPSS. Neither the size nor type of SPSS was associated with mortality, morbidity, or liver function recovery. However, the incidence of portal complications was significantly higher in patients with a large SRS (8.6% versus 2.9%; P = 0.04). Multivariate analysis of portal complications revealed 2 independent predictors: pre‐LT portal vein thrombosis (PVT) and SRS size. The observed risk among recipients with pre‐LT PVT was 8.3% when the SRS was ≤7 mm, but increased to 38.5% when the SRS was >15 mm. The present study suggests that large SPSS do not negatively affect the outcomes after LDLT. However, a large SRS is associated with a higher risk of portal complications, particularly in recipients with pre‐LT PVT, for whom intraoperative intervention for SRS should be considered. Otherwise, a conservative approach to SPSS during LDLT seems reasonable.
Access and Use of Device‐Aided Therapies for Parkinson’s Disease in Denmark
Authors: Henriksen Tove , Dalhoff Kim Peder , Hansen Henriette Engel , Brenneche Andreas W. , Lønberg Ulla Sofie , Danielsen Erik Hvid 
Published: May 2020

AbstractBackgroundIn Denmark’s five regions, there is potential inequality in access to device‐aided therapy (DAT) for Parkinson’s disease (PD) based on structural or socioeconomic factors. It is unclear how long DAT is maintained and affects concomitant medication.ObjectivesTo investigate access to DAT by comparing the proportion of patients with DBS, subcutaneous apomorphine infusion (SCAI), or levodopa/carbidopa intestinal gel (LCIG) in Danish regions 2008–2016 and describe demographics of patients, changes in use of comedication, and maintenance of DAT.MethodsThis work is a retrospective nationwide population‐based registry analysis generated by combining various registries and statistics in Denmark.ResultsFrom 2008 to 2016, 612 patients started DAT. There were statistically significant differences in the number of patients starting DAT between the Capital Region (99.5 per 1,000) and both Central Jutland (66.6 per 1,000) and North Jutland (70.6 per 1,000; P < 0.05). Among DBS and LCIG patients, respectively, 4% and 42% were aged ≥70 years, 68% and 63% were men (vs. 59% in the general PD population; P < 0.05 for DBS), 73% and 63% had a partner (vs. 62% in the general PD population), and 73% and 71% had a qualifying education (vs. 63% in the general PD population; P < 0.05). Use of PD‐related medication decreased significantly from 4 years before to 4 years after DAT. Eighty‐one percent of the patients who started LCIG, alive 4 years later, had maintained this treatment.ConclusionsThere is unequal access to DAT in the Danish regions, and political and social considerations are warranted to address structural and socioeconomic causes.
Highly air‐stabilized black phosphorus on disposable paper substrate as a tunnelling effect‐based highly sensitive piezoresistive strain sensor
Authors: Selamneni Venkatarao , B S Amogh , Sahatiya Parikshit 
Published: May 2020

AbstractThis report demonstrates synthesis of black phosphorus (BP) from red phosphorus using sonochemistry and the direct growth of highly air‐stable BP on cellulose paper using hydrothermal method with PDMS as passivation and its utilization in human motion monitoring system. PDMS not only hinders the oxidation of BP but also provides flexibility to the device, thereby allowing the use of paper‐based device as strain sensor. Fabricated device exhibits gauge factor of 6.1, which is comparable with the devices fabricated using sophisticated cleanroom techniques, and device is tested for 2,000 bending cycles revealing excellent reliability and repeatability. Device displayed excellent hysteresis suggesting that tunnelling effect is responsible for the current change of the device upon the external strain. Mathematical model is formulated to describe tunnelling conduction which matched the experimental results. Further, device exhibits excellent air stability for 98 days wherein negligible change in resistance and strain sensing performance is observed. Fabricated device is integrated onto different parts of the human body for its real‐time application in human motion monitoring. Successful demonstration of the direct growth of highly air‐stable BP on flexible and biodegradable cellulose paper opens up new avenues of research in optoelectronics, health care, security etc.
Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers
Authors: Kozina Anastasiya A. , Okuneva Elena G. , Baryshnikova Natalia V. , Kondakova Olga B. , Nikolaeva Ekaterina A. , Fedoniuk Inessa D. , Mikhailova Svetlana V. , Krasnenko Anna Y. , Stetsenko Ivan F. , Plotnikov Nikolay A. , Klimchuk Olesia I. , Popov Yaroslav V. , Surkova Ekaterina I. , Shatalov Peter A. , Rakitko Alexander S. , Ilinsky Valery V. 
Published: May 2020

AbstractBackgroundNeuronal ceroid lipofuscinoses (NCLs) are a group of neurodegenerative disorders characterized by an accumulation of lipofuscin in the body's tissues. NCLs are associated with variable age of onset and progressive symptoms including seizures, psychomotor decline, and loss of vision.MethodsWe describe the clinical and molecular characteristics of four Russian patients with NCL (one female and three males, with ages ranging from 4 to 5 years). The clinical features of these patients include cognitive and motor deterioration, seizures, stereotypies, and magnetic resonance imaging signs of brain atrophy. Exome sequencing was performed to identify the genetic variants of patients with NCL. Additionally, we tested 6,396 healthy Russians for NCL alleles.ResultsWe identified five distinct mutations in four NCL‐associated genes of which two mutations are novel. These include a novel homozygous frameshift mutation in the CLN6 gene, a compound heterozygous missense mutation in the KCTD7 gene, and previously known mutations in KCTD7, TPP1, and MFSD8 genes. Furthermore, we estimated the Russian population carrier frequency of pathogenic and likely pathogenic variants in 13 genes associated with different types of NCL.ConclusionOur study expands the spectrum of mutations in lipofuscinosis. This is the first study to describe the molecular basis of NCLs in Russia and has profound and numerous clinical implications for diagnosis, genetic counseling, genotype–phenotype correlations, and prognosis.
Missense NR2F1 variant in monozygotic twins affected with the Bosch–Boonstra–Schaaf optic atrophy syndrome
Authors: Mio Catia , Fogolari Federico , Pezzoli Laura , D’Elia Angela V. , Iascone Maria , Damante Giuseppe 
Published: May 2020

AbstractBackgroundThe Bosch‐Boonstra‐Schaaf optic atrophy syndrome (BBSOAS) is an autosomal‐dominant disorder (OMIM615722) mostly characterized by optic atrophy and/or hypoplasia, mild intellectual disability, hypotonia, seizures/infantile epilepsy. This disorder is caused by loss‐of‐function alterations of NR2F1 (i.e., either whole gene deletions or single nucleotide variants) and, to date, 40 patients have been identified with deletions or mutations in this gene. Here we describe two monozygotic twins harboring a de novo missense variant in the DNA‐binding domain of NR2F1 (c.313G>A, p.Gly105Ser), with well‐characterized features associated to BBSOAS.MethodsPatients’ DNA was analyzed by exome sequencing identifying the missense variant c.313G>A in NR2F1 (NM_005654.4). Furthermore, molecular modeling was performed to evaluate putative differences in DNA binding between wild‐type and mutated NR2F1.ResultsThe missense variant is predicted to be likely pathogenetic following the ACMG (American College of Medical Genetics and Genomics)/AMP (Association for Molecular Pathology) guidelines. Indeed, dynamic simulation experiments highlighted that the Gly105Ser substitution let the formation of a hydrogen bond between the S105 side chain and R142 and a base (G5) of the DNA sequence, allowing us to hypothesize that the G105 residue might be evolutionary conserved due to the absence of a side chain, besides glycine conformational features. Therefore, the G105S variation seems to cause a stiffening and a possible deformation in the protein‐DNA complex due to the interaction of residues R142‐S105 and G5 on the DNA, compared to the wild‐type.ConclusionIn summary, we described two monozygotic twins harboring a novel Gly105Ser mutation in NR2F1 DNA binding domain, displaying the classical phenotype of BBSOAS‐affected patients. Our computational data suggest a dominant negative effect of this newly characterized missense variant. To date, this is the first genetic report analyzing in silico structural consequences of NR2F1 Gly105Ser substitution.
14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies
Authors: Ponzi Emanuela , Gentile Mattia , Agolini Emanuele , Matera Emilia , Palumbi Roberto , Buonadonna Antonia Lucia , Peschechera Antonia , Gabellone Alessandra , Antonucci Maria Fatima , Margari Lucia 
Published: May 2020

AbstractBackgroundChromosome 14q11‐q22 deletion syndrome (OMIM 613457) is a rare contiguous gene syndrome. Two regions of overlap (RO) of the 14q12q21.1 deletion have been identified: a proximal region (RO1), including FOXG1(*164874), NKX2‐1(*600635), and PAX9(*167416) and a distal region (RO2), including NKX2‐1 and PAX9. We report a 6‐year‐old boy with mild dysmorphic facial features, global developmental delay, and hypoplasia of the corpus callosum.Methods and ResultsArray‐CGH analysis revealed a 14q12q13.2 microdeletion. We compared the phenotype of our patient with previously published cases in order to establish a genotype–phenotype correlation.ConclusionThe study hypothesizes the presence of a new RO, not including the previously reported candidate genes, and attempt to define the associated molecular and psychomotor/neurobehavioral phenotype. This region encompasses the distal breakpoint of RO1 and the proximal breakpoint of RO2, and seems to be associated with intellectual disability (ID), hypotonia, epilepsy, and corpus callosum abnormalities. Although more cases are needed, we speculated on SNX6(*606098) and BAZ1A(*605680) as potential candidate genes associated with the corpus callosum abnormalities.
The Beneficial Effects of Lippia Citriodora Extract on Diet‐Induced Obesity in Mice Are Associated with Modulation in the Gut Microbiota Composition
Authors: Diez‐Echave Patricia , Vezza Teresa , Rodríguez‐Nogales Alba , Hidalgo‐Garcia Laura , Garrido‐Mesa José , Ruiz‐Malagon Antonio , Molina‐Tijeras Jose Alberto , Romero Miguel , Robles‐Vera Iñaki , Leyva‐Jiménez Francisco Javier , Lozano‐Sanchez Jesús , Arráez‐Román David , Segura‐Carretero Antonio , Micol Vicente , García Federico , Morón Rocío , Duarte Juan , Rodríguez‐Cabezas Maria Elena , Gálvez Julio 
Published: May 2020

ScopeObesity is characterized by a dysfunction in the adipose tissue and an inflammatory subclinical state leading to insulin resistance and increased risk of cardiovascular diseases. It is also associated with intestinal dysbiosis that contributes to inflammation development. Lippia citriodora (LCE) contains high levels of polyphenolpropanoids and has shown promising results in obesity. The aim of this study is to investigate a well‐characterized extract of LCE in a model of metabolic syndrome in mice, focusing on its effects on metabolic tissues, endothelial dysfunction, and microbiome.MethodsMice are fed a high fat diet (HFD) for six weeks and treated daily with LCE (1, 10, and 25 mg kg−1). Glucose and lipid metabolism is investigated. The inflammatory state in the metabolic tissues and the intestinal microbiota composition are characterized, as well as the endothelium‐dependent vasodilator response to acetylcholine.ResultsLCE reduces fat accumulation and improves plasma glycemic and lipid profiles, as well as the inflammatory process and vascular dysfunction. Moreover, LCE lessens intestinal dysbiosis, as it reduces the Firmicutes/Bacteroidetes ratio and increases Akkermansia abundance in comparison with untreated HFD mice.ConclusionThe antiobesity therapeutic properties of LCE are most probably mediated by the synergic effects of its bioactive compounds.
A motion prediction confidence estimation framework for prediction‐based radiotherapy gating
Authors: Ginn John S. , Low Daniel A. , Lamb James M. , Ruan Dan 
Published: May 2020

PurposeMotion prediction can compensate for latency in image‐guided radiotherapy and has been an active area of research. However, motion predictions are subject to error and variations. We have developed and evaluated a novel motion prediction confidence estimation framework to improve the efficacy and robustness of prediction‐based radiotherapy gating decision‐making. The specific scenario of adaptive gating in magnetic resonance imaging (MRI)‐guided radiotherapy is studied as an example, but the method generalizes to other modalities and motion management setups.MethodsThe proposed prediction confidence estimator is based on a generic training/testing paradigm and consists of a weighted combination of three components: the prediction model’s goodness of fit, variation in the prediction using a leave‐one‐out process and the velocity of the tracked target. Roughly, these terms quantify respectively the consistency between prediction and the training data, the robustness of model inference, and the stability due to target speed. The weight parameters and the action level in triggering beam‐off decision are optimized. The method is assessed and validated in 8 healthy volunteer and 13 patient studies using a 0.35T MRI‐guided radiotherapy system predicting 0.25–0.33 s ahead. The effect of the action level on the predicted gating decision accuracy, beam‐on positive predictive value (PPV) and median distance between the predicted and ground‐truth target centroids were evaluated. Statistical significance was evaluated using a paired t‐test. The tradeoff between these performance metrics and gating duty cycle was assessed.ResultsUse of the confidence estimator threshold increased gating accuracy by up to 2.42%, increased PPV by up to 3.00%, and reduced the median centroid distance up to 0.28 mm. The confidence estimator threshold on average increased gating accuracy to 96.5% (P = 2.08 × 10−4), increased PPV to 96.7% (P = 1.46 × 10−5), reduced the median centroid distance to 0.54 mm (P = 1.71 × 10−5) at the cost of reducing the gating duty cycle by 14.3% to 48.5%. Hyperparameter tuning revealed that contrary to intuition, the velocity term offered only minimal performance improvement in some cases but also introduced potential stability issues. The combination of goodness of fit and leave‐one‐out prediction variation provided the most effective confidence estimator, yielding universally better performance in gating decisions.ConclusionConfidence estimation utilizing prediction model fitness criterion and validation principles can complement prediction methods to guide MRI‐guided radiotherapy gating. Results from both volunteer and patient studies showed improved gating quality.
One‐bond 1J(15N,H) coupling constants at sp2‐hybridized nitrogen of Schiff bases, enaminones and similar compounds: A theoretical study
Authors: Hansen Poul Erik , Saeed Bahjat A. , Rutu Rita S. , Kupka Teobald 
Published: May 2020

Abstract1J(15N,H) coupling constants for enaminones and NH‐forms of intramolecularly hydrogen‐bonded Schiff bases as model compounds for sp2‐hybridized nitrogen atoms are evaluated using density functional theory (DFT) to find the optimal functionals and basis sets. Ammonia is used as a test molecule and its one‐bond coupling constant is compared with experiment. A methylamine Schiff base of a truncated molecule of gossypol is used for checking the performance of selected B3LYP, O3LYP, PBE, BHandH, and APFD density functionals and standard, modified, and dedicated basis sets for coupling constants. Both in vacuum and in chloroform, modeled by the simple continuum model of solvent, the modified basis sets predict significantly better the 1J(15N,H) value in ammonia and in the methylamine Schiff base of a truncated molecule of gossypol than the standard basis sets. This procure is then used on a broad set of intramolecularly hydrogen‐bonded molecules, and a good correlation between calculated and experimental one‐bond NH coupling constants is obtained. The 1J(15N,H) couplings are slightly overestimated. The calculated data show for hydrogen‐bonded NH interatomic distances that the calculated values depend on the NH bond lengths. The shorter the bond lengths, the larger the 1J(15N,H). A useful correlation between 1J(15N,H) and NH bond length is derived that enables realistic predictions of one‐bond NH coupling constants. The calculations reproduce experimentally observed trends for the studied molecules.