Key points Two groups of inexperienced brain‐computer interface users underwent a purely mental EEG‐BCI session that rapidly impacted on their brain. Modulations in structural and functional MRI were found after only 1 h of BCI training. Two different types of BCI (based on motor imagery or visually evoked potentials) were employed and analyses showed that the brain plastic changes are spatially specific for the respective neurofeedback. This spatial specificity promises tailored therapeutic...
Abstract This review considers the physiological basis of brief vigorous exercise to improve health, with a focus on cardiorespiratory fitness (CRF) and glycemic control, and the potential underlying mechanisms involved. We defined ‘brief’ as a protocol lasting ≤15 min including warm‐up, cool‐down, and recovery, and involving a total of ≤5 min of ‘vigorous’ exercise, which was classified as meeting or exceeding the lower end of the range for this relative intensity per criteria from the American...
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Analyst, 2019, Accepted ManuscriptDOI: 10.1039/C9AN01847F, PaperFeng Zhang, Ling Xiang, Xianghui Xiao, Xiaoming Chen, Chunyan Chen, Changqun CaiBecause rapid, convenient, and selective methods for HIV detection are urgently needed, herein, a simple label-free and enzyme-free strategy was constructed for sensitive fluorescent detection of HIV DNA using the...The content of this RSS Feed (c) The Royal Society of Chemistry
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Analyst, 2019, Advance ArticleDOI: 10.1039/C9AN01005J, PaperJuan A. Aguilar, Julia Cassani, Fay Probert, Jacqueline Palace, Tim D. W. Claridge, Adolfo Botana, Alan M. KenwrightThis paper proposes a family of pulse sequences (the WASTED family) that improves the capabilities of the presat-CPMG pulse sequence traditionally used to suppress signals from water and macromolecules.To cite this article before page numbers are assigned, use the DOI form of citation above.The content of this RSS Feed (c)...
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Purpose: Myopathic blepharoptoses (ptoses) is a complex group of disorders. To date, no formal categorization scheme has been developed based on associated ocular and systemic findings, genetic fingerprint, treatment, and prognosis for each ptosis in this group. We report a new classification scheme for myopathic ptoses. Methods: Literature review and classification development. Results: A new classification scheme of myopathic ptoses includes isolated static myopathic ptosis (congenital...
A retrospective review of the medical reports of a patient who was undergoing treatment for graft versus host disease following bone marrow transplant for acute myeloid leukemia was conducted. The patient presented with persistent ocular irritation and injection. For an unclear period of time, he developed proptosis and binocular diplopia with limitation of extraocular motility insidiously. MRI revealed gross enlargement of extraocular muscles and bone marrow aspiration trephine confirmed relapse...
Purpose: Invasive fungal sinusitis is a rare but potentially lethal disease that primarily affects immunocompromised patients. The purpose of this study was to review an academic medical center’s experience in the presentation, diagnosis, and treatment of invasive fungal sinusitis. Methods: A retrospective chart review was performed at a single institution over a 17-year period. Medical records, radiographic imaging, and operative reports were analyzed. Bivariate and multivariable analyses...
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Purpose: To report the incidence, clinical features, microbiologic profile, and risk indicators in the development of microbial keratitis in Thyroid Eye Disease (TED). Methods: All patients who were diagnosed to have TED and developed microbial keratitis between the years 2009 to 2017 at the Ophthalmic Plastic Surgery service, LV Prasad Eye Institute were included in this retrospective interventional study. The clinical features, microbiological profile, and treatment outcome of the infection...
Two patients with previously diagnosed pheochromocytoma presented with facial pain and ptosis. Imaging revealed orbital lesions. Both patients were referred for surgical evaluation of the orbital mass. Surgical excision was performed for both. Pathology confirmed metastatic pheochromocytoma. Pheochromocytomas commonly metastasize to bone, liver, and other tissues. Five cases of metastasis to orbital bone have been previously described. These 2 cases are unique in that the metastases were not hormonally...
Purpose: To characterize the anatomical anomaly of congenital double puncta, identify factors contributing to epiphora and its treatment. Methods: Retrospective review of patients presenting with epiphora and a double lacrimal punctum over a 6-month period. Results: Five consecutive patients (3 female) were identified. The median age was 50 years (range 34–76). Investigations included punctum optical coherence tomography, dacryocystography, and canalicular endoscopy. The medial punctum...
Odontogenic keratocyst is a benign locally aggressive odontogenic cyst with a high recurrence rate. This report presents an unusual case of a recurrent odontogenic keratocyst with zygomatic bone involvement and orbital and temporal extension resulting in globe compression. Odontogenic keratocyst is reviewed, and surgical management of the cyst is discussed. The authors present a case of a recurrent odontogenic keratocyst involving the zygoma with orbital and temporal invasion; aggressive surgical...
Purpose: To investigate the presence and distribution patterns of 6 surfactant proteins in lacrimal drainage tissues of patients with primary acquired nasolacrimal duct (NLD) obstruction. Methods: The presence and distribution of surfactant proteins (SP)-G and SP-H was first assessed in normal cadaveric lacrimal systems. The study was then performed in 10 samples of lacrimal sac and the respective NLDs obtained from patients suffering from primary acquired NLD obstruction who underwent either...
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Purpose: Amid the increasing clinical application of hyaluronic acid (HA) fillers in the ocular adnexa is a paucity of histological data concerning the fate of the injected material. The current study documents the in vivo biodegradation of HA deposited in the eyelid and orbit. Methods: The study included 22 chinchilla rabbits. The right upper eyelid of 12 rabbits received a single 0.2 ml Restylane (Galderma, Uppsala, Sweden) subcutaneous injection. In 10 different rabbits, the right orbit...
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Purpose: To investigate the presence and distribution patterns of proteins in the lacrimal sac mucopeptide concretions. Methods: The study was performed on 10 mucopeptide concretions obtained from the lacrimal sac during an endoscopic dacryocystorhinostomy. Immunohistochemical labeling was performed for assessing the presence and distribution of von Willebrand factor, fibronectin, collagen I, collagen III, human beta-defensin 2, beta-defensin 3, lysozyme, prolactin, cytokeratin (CK)—CK4,...
Cerebrospinal fluid leaks are rarely encountered by orbital surgeons, but can occur during dacryocystorhinostomy, orbital decompression, orbital exenteration, and enucleation. The authors present a case of cerebrospinal fluid leak from an injury to the orbital roof during orbital exenteration with the use of monopolar cautery. This was repaired with multilayer closure. Surgeons performing orbital exenteration must be aware of the possibility of this complication when using monopolar electrocautery...
Purpose: Ptosis may occur in certain cases after upper blepharoplasty. The authors aim to characterize the incidence of postoperative marginal reflex distance (MRD1) reduction after upper blepharoplasty and surgical variables that may predict this occurrence. Methods: In this cross-sectional study, patients > 18 years old undergoing upper blepharoplasty were screened. Patients were excluded if they had any history of ptosis and brow surgery. Data regarding the excision of skin, muscle,...
The development of orbit-eroding mucocele associated with inverted papilloma has been rarely reported.1,2 Here, the authors present a case and surgical management of a patient with orbit-eroding mucocele associated with inverted papilloma who declined craniotomy. A combined approach utilizing frontal endoscopic sinus surgery and external sub-brow anterior orbitotomy was used to explore, drain, and excise the mucocele and inverted papilloma. Gelatin sponges soaked in gentamicin were used to cover...
Purpose: To present a novel myocutaneous flap for anterior lamellar reconstruction. Methods: Retrospective interventional case series of consecutive patients who underwent Mohs reconstruction using the flip-back flap. Operations were performed by a single surgeon (DTT) between January 2012 and May 2016. For lower eyelid defects, an extended subciliary incision was made and a skin-muscle flap developed and suspended in the manner of lower eyelid blepharoplasty. A back-cut was used to develop...
A 58-year-old man presented with a 9-month history of a chronically draining surgical wound and low-grade periorbital inflammation following a right lateral orbitotomy. Imaging of the right orbit revealed a peculiar lesion in the right lateral orbit that was hypointense on both T1- and T2-weighted MRI with peripheral enhancement. Exploratory orbitotomy and biopsy established the diagnosis of a chronic foreign body inflammatory reaction to bone wax; symptoms resolved following evacuation of the retained...
Purpose: The evaluation of palpebral laxity can be performed by the distraction test (DT). Although widely used in ophthalmologic practice, there is no consensus about the results considered normal by the test. The objectives of this study are to obtain the value of DT in a group of individuals with healthy eyelids and to compare with the measurements in subjects with senile ectropion. Methods: Lower eyelid DT was performed in 200 individuals without any eyelid pathology and in 30 individuals...
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Purpose: To determine the safety and efficacy of resident-performed functional upper eyelid blepharoplasty. Methods: The authors retrospectively looked at functional upper eyelid blepharoplasty surgery performed on 836 eyes of 448 patients under the supervision of one oculoplastic surgery attending at the University of California Davis Eye Center from January 1, 2013, to December 31, 2017. The primary surgeon was a resident on 427 eyes and was an attending on 409 eyes. Patients (73.5%) were...
Purpose: To provide a systematic review of the literature on diagnostic and therapeutic indications, techniques, utility, and complications of dacryoendoscopy (DEN). Methods: The authors performed a PubMed search of articles published in English/German/Japanese/Chinese on DEN. Data captured include evolution and techniques, diagnostic utility, therapeutic interventions, outcomes, and limitations. Specific emphasis was laid on addressing the current practice patterns and existing lacunae. ...
Purpose: To introduce a new (Supine) test and assess the values of lateral eyelid bulging for diagnosis of lacrimal gland (LG) prolapse before upper blepharoplasty. Methods: In a prospective case series (2011–2017), lateral eyelid bulging and Supine Test were recorded, preoperatively. Lacrimal gland prolapse was graded as mild (7 mm). A few spots of cautery on LG capsule was performed in patients with bilateral mild and suture repositioning in unilateral or bilateral moderate and severe LG...
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Purpose: Evaluate visual outcomes in relation to time from injury to intervention in patients who undergo lateral canthotomy with cantholysis (LCC) for retrobulbar hemorrhage (RBH). Methods: Retrospective study of patients with orbital compartment syndrome (OCS) secondary to RBH who underwent LCC. OCS due to RBH was defined by a combination of decreased vision, proptosis, resistance to retropulsion, increased intraocular pressure, and relative afferent pupillary defect. Time from injury to...
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Purpose: Orbital decompression is an established surgical treatment option for a range of orbital conditions. Traditionally, Ear, Nose and Throat surgeons have adopted the endoscopic route while ophthalmologists operate via an external approach. The authors report the outcomes of endonasal decompression performed by oculoplastic surgeons experienced in endonasal techniques. Methods: This was a retrospective case series of patients who underwent endoscopic orbital decompression for proptosis...
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Purpose: To study the CT appearance of the nasolacrimal canal (NLC) in cases of congenital nasolacrimal duct obstruction (CNLDO) where there is a tactile sensation of a hard contact (HC) stop in the duct preventing stent intubation. Methods: The authors retrospectively reviewed all consecutive cases of chronic CNLDO observed between 2003 and 2018 in which an apparent HC obstruction prevented nasolacrimal intubation. CT scans were reviewed to determine the cause of probing failure: distal...
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Purpose: A follow-up experimental study on the exposure of animal tarsal plate to ultraviolet-A radiation aimed at establishing an optimum range for safe irradiation conditions. Methods: Sheep tarsus specimens were excised postmortem and then subjected to irradiation with ultraviolet-A rays (wavelength 365 nm) at higher irradiances than those reported in an initial study, using a laboratory radiation source. The mechanical properties (tensile strength and Young’s modulus) of irradiated and...
Orbital varices are thin-walled venous structures that are asymptomatic in most individuals. Sometimes thrombosis of an orbital varix is the initial presentation of a previously unknown orbital varix. The authors present a case of a 47-year-old male who presented with sudden onset of pain and proptosis of his right eye over a period of 2–3 hours, possibly secondary to asphyxiation. A CT scan of the orbits revealed bilateral orbital masses in the posterior inferior orbit consistent with thrombosed...
Purpose: To evaluate the relationship between pre-Mohs skin cancer lesion measurements with the post-Mohs defect size in order to most accurately estimate post-Mohs defect size. Methods: This is a retrospective analysis of patients who underwent Mohs excision by one of 3 Mohs surgeons followed by reconstruction for basal cell carcinoma or squamous cell carcinoma of the eyelid. The study included all patients from January 2011 to May 2018 operated on by a single oculoplastic surgeon (R.M.)...
Orbital subperiosteal hemorrhages are usually due to trauma. However, nontraumatic subperiosteal hemorrhages have also been rarely reported. Here, the authors present a 13-year-old boy with Bernard-Soulier syndrome who presented with right orbital subperiosteal hemorrhage causing optic neuropathy which was surgically drained with full visual recovery. The authors describe a case of rare coagulopathy (Bernard-Soulier syndrome) and pansinusitis presenting with nontraumatic subperiosteal hemorrhage.
Purpose: Define incidence of severe ocular trauma in orbital fracture patients and determine if ocular signs and symptoms are useful predictors of severe ocular injuries. Methods: Retrospective chart review was performed on all patients with orbital fractures between April 1, 2013, and December 31, 2014. Patients were included if they had radiographic evidence of acute fracture of at least one orbital wall and were evaluated by the Ophthalmology service. Demographics, concurrent injury data,...
Electrochemotherapy has been used successfully for treatment of recurrent head and neck skin cancers and skin metastasis. It combines both electroporation and chemotherapy. The authors report 4 patients, who all had metastatic periorbital malignancy. These patients were palliative with widespread metastatic malignancy. All patients had either already had multiple procedures or declined surgical resection and preferred less involved measures. The authors report technique and outcomes. Patient 1: 83-year-old...
Purpose: To describe the clinicopathological features and report the outcomes of treatment in lymphoma involving the extraocular muscles (EOM), the largest reported case-series. Methods: A retrospective case series of patients with lymphoma involving the EOM from a single tertiary referral orbital center, between March 1992 and March 2018. Patients with other histopathologic diagnoses or who did not have an EOM biopsy were excluded. The main outcome measures were histologic evaluation and...
Trichodiscomas are benign tumors of the skin which develop around a hair follicle. They usually present on the face, neck, or trunk region. The authors report a rare case of a 63-year-old man who presented with a tumor on the left lower eyelid that was histologically proven to be a trichodiscoma of conjunctival origin. Trichodiscomas are benign tumors of the skin appendage which develop around a hair follicle. Although conjunctival hair follicles are rudimentary and do not give rise to hair, rarely...
Purpose: To evaluate the efficacy of Müller’s muscle-conjunctival resection combined with tarsectomy for the treatment of congenital ptosis. Methods: A retrospective, noncomparative case series was performed on 38 eyes of 36 patients who underwent Müller’s muscle-conjunctival resection combined with tarsectomy for the treatment of congenital ptosis. Age range was 2–25 years (mean: 7.86 years). Follow-up measurements taken up to 4 years after procedure were compared with baseline values. ...
A 22-year-old Hispanic man with sickle cell trait presented with blurred vision, double vision, and pain with OD movement. MRI demonstrated an extra-axial mass centered around the temporal bone with extension into the middle cranial fossa and lateral aspect of the extra-conal right orbit, and mass effect on the lateral rectus muscle. Biopsy of the lesion was consistent with renal medullary carcinoma. CT chest/abdomen/pelvis confirmed a primary tumor in the right kidney. No additional metastases were...
Objective: Prolapse of silicone tubes is one of the most common complications after bicanalicular intubation of the lacrimal system. This study describes a new method of repositioning prolapsed silicone tubes by using a suture-probe. Methods: This study was a retrospective chart review of 12 patients who experienced complete silicone tube prolapse after bicanalicular intubation. The silicone tube was repositioned by using a suture-probe; a double-stranded suture was placed in the lacrimal...
Congenital hemangiomas comprise a subset of vascular tumors with clinicopathologic features that are distinct from the more common infantile hemangioma. The authors present a patient with a large congenital hemangioma involving the forehead and brow which obstructed the visual axis and created significant risk for deprivational amblyopia. Management of the congenital hemangioma involved customized headgear to clear the visual axis and early vascular embolization of feeder vessels with the subsequent...
Purpose: The aim of this study was to examine the ultrastructural features of the canalicular entrance into the lacrimal sac. Methods: Ten openings of the common canaliculus into the lacrimal sac from 10 lacrimal sacs obtained during a dacryocystectomy were studied. Each of the openings were completely excised with 3–4 mm margins on all sides and transported to the laboratory in 2.5% glutaraldehyde. The analysis was performed using the standard protocols of scanning electron microscopy (SEM)....
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Abstract The setup of an economic and sustainable method to increase the production and commercialization of products from microalgae, beyond niche markets, is a challenge. Here, a cascade approach has been designed to optimize the recovery of high valuable bioproducts starting from the wet biomass of Galdieria phlegrea. This unicellular thermo-acidophilic red alga can accumulate high-value compounds and can live under conditions considered hostile to most other species. Extractions...
Abstract Purple non-sulfur photosynthetic bacteria such as Rhodobacter sphaeroides and Rhodopseudomonas palustris produce hydrogen gas (H2) via proton reduction, which is catalyzed by nitrogenase. Although the expression of nitrogenase is usually repressed under nitrogen-sufficient conditions, a partial deletion of nifA, which encodes a transcriptional activator of nitrogen-fixation genes, has been reported to enable the constitutive expression of nitrogenase in R. palustris. In...
Abstract β-alanine is a precursor for the production of pharmaceuticals and food additives that is produced by chemical methods in industry. As concerns about the environment and energy are increasing, biocatalysis using L-aspartate-α-decarboxylase (ADC) to convert L-aspartate to β-alanine has great potential. Many studies have focused on the catalytic activity of ADC, but these researches were limited to the prokaryotic enzymes. In this study, the gene encoding cysteine sulfinic...
Abstract Cationic polypeptide proteins found in the seeds of the tropical plant Moringa oleifera have coagulation efficiencies similar to aluminum and ferric sulfates without their recalcitrant nature. Although these proteins possess great potential to augment or replace traditional coagulants in water treatment, harvesting active protein from seeds is laborious and not cost-effective. Here, we describe an alternative method to express and secrete active M. oleifera coagulant protein...
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Abstract Tumor vascularization occurs through several distinct biological processes, which not only vary between tumor type and anatomic location, but also occur simultaneously within the same cancer tissue. These processes are orchestrated by a range of secreted factors and signaling pathways and can involve participation of non-endothelial cells, such as progenitors or cancer stem cells. Anti-angiogenic therapies using either antibodies or tyrosine kinase inhibitors have been...
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BACKGROUND AND PURPOSE:Imaging CBF is important for managing pediatric moyamoya. Traditional arterial spin-labeling MR imaging detects delayed transit thorough diseased arteries but is inaccurate for measuring perfusion because of these delays. Velocity-selective arterial spin-labeling is insensitive to transit delay and well-suited for imaging Moyamoya perfusion. This study assesses the accuracy of a combined velocity-selective arterial spin-labeling and traditional pulsed arterial spin-labeling...
BACKGROUND AND PURPOSE:Research into memory deficits associated with hypoxic-ischemic encephalopathy has typically focused on the hippocampus, but there is emerging evidence that the medial diencephalon may also be compromised. We hypothesized that mammillary body damage occurs in perinatal asphyxia, potentially resulting in mammillary body atrophy and subsequent memory impairment.MATERIALS AND METHODS:We retrospectively reviewed brain MRIs of 235 clinically confirmed full-term patients with hypoxic-ischemic...
BACKGROUND AND PURPOSE:Remyelination represents an area of great therapeutic interest in multiple sclerosis but currently lacks a robust imaging marker. The purpose of this study was to use high-gradient diffusion MRI and macromolecular tissue volume imaging to obtain estimates of axonal volume fraction, myelin volume fraction, and the imaging g-ratio in patients with MS and healthy controls and to explore their relationship to neurologic disability in MS.MATERIALS AND METHODS:Thirty individuals...
BACKGROUND AND PURPOSE:Diffuse midline gliomas with histone H3 K27M mutation are biologically aggressive tumors with poor prognosis defined as a new diagnostic entity in the 2016 World Health Organization Classification of Tumors of the Central Nervous System. There are no qualitative imaging differences (enhancement, border, or central necrosis) between histone H3 wildtype and H3 K27M-mutant diffuse midline gliomas. Herein, we evaluated the utility of diffusion-weighted imaging to distinguish H3...
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Abstract Following a request from the European Commission, the Panel on Additives and Products or substances used in Animal Feed (FEEDAP Panel) was asked to deliver a scientific opinion on the safety and efficacy of the coccidiostat Monimax® (monensin sodium and nicarbazin) when used in feed for turkeys or chickens for fattening. In previous assessments (2017, 2018), the FEEDAP Panel could not conclude on the safety of Monimax® for the environment due to concerns on monensin sodium and 4,4′‐dinitrocarbanilide...
Abstract Following a request from the European Commission, the EFSA Panel on Additives and Products or Substances used in Animal Feed (FEEDAP) was asked to deliver a scientific opinion on the safety and efficacy of a tincture from Artemisia vulgaris L. (Mugwort tincture) when used as a sensory feed additive for all animal species. The product is a water/ethanol ■■■■■ solution, with a dry matter content of approximately 1.7%. The product is specified to contain a minimum of 0.01% hydroxycinnamic...
Abstract The l‐threonine under assessment is produced by fermentation with a genetically modified strain of Escherichia coli and it is intended to be used as a nutritional additive for all animal species. In 2017 the Panel on Additives and products or Substances used in Animal Feed (FEEDAP) of EFSA issued an opinion on the safety and efficacy of the product. In that assessment, the Panel could not conclude on the safety of the additive for the target species, consumers and the environment due to...
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Purpose: Non-small cell lung cancer (NSCLC) is the most common cause of cancer deaths worldwide. There is an unmet need to develop novel clinically relevant models of NSCLC to accelerate identification of drug targets and our understanding of the disease. Experimental Design: Thirty surgically resected NSCLC primary patient tissue and 35 previously established patient-derived xenograft (PDX) models were processed for organoid culture establishment. Organoids were histologically and molecularly characterized...
Purpose: The optimal systemic treatment for pulmonary large-cell neuroendocrine carcinoma (LCNEC) is still under debate. Previous studies showed that LCNEC with different genomic characteristics might respond differently to different chemotherapy regimens. In this study, we sought to investigate genomic subtyping using cell-free DNA (cfDNA) analysis in advanced LCNEC and assess its potential prognostic and predictive value. Experimental design: Tumor DNA and cfDNA from 63 patients with LCNEC were...
Purpose: There is growing interest in combinations of immunogenic radiotherapy (RT) and immune checkpoint blockade, but clinical responses are still limited. Therefore, we tested the triple therapy with an inhibitor of the indoleamine 2,3-dioxygenase pathway, which, like immune checkpoints, downregulates the antitumor immune response. Experimental Design: Triple treatment with hypofractionated RT (hRT) + αPD1 + indoximod was compared with the respective mono- and dual therapies in two syngeneic mouse...
Purpose: Pelareorep is an intravenously delivered oncolytic reovirus that can induce a T cell-inflamed phenotype in pancreatic ductal adenocarcinoma (PDAC). Tumor tissues from patients treated with pelareorep have shown reovirus replication, T-cell infiltration, and upregulation of PD-L1. We hypothesized that pelareorep in combination with pembrolizumab and chemotherapy in patients with PDAC would be safe and effective. Experimental Design: A phase 1b single arm study enrolled PDAC patients who progressed...
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The root-knot nematodes of the genus Meloidogyne are important and damaging parasites capable of infecting most flowering plants. Within this genus, several species of the Meloidogyne incognita group show evidence of paleopolyploidy in their genomes. We used our software tool POInT, the Polyploidy Orthology Inference Tool, to phylogenetically model the gene losses that followed that polyploidy. These models, and simulations based on them, show that three of these species (M. incognita, M. arenaria...
Scleroderma, or systemic sclerosis (SSc), is an autoimmune disease characterized by progressive fibrosis of the skin and internal organs. The most common cause of death in people with SSc is lung disease, but the pathogenesis of lung disease in SSc is insufficiently understood to devise specific treatment strategies. Developing targeted treatments requires not only the identification of molecular processes involved in SSc-associated lung disease, but also understanding of how these processes interact...
Locomotion is an ancient and fundamental output of the nervous system required for animals to perform many other complex behaviors. Although the formation of motor circuits is known to be under developmental control of transcriptional mechanisms that define the fates and connectivity of the many neurons, glia and muscle constituents of these circuits, relatively little is known about the role of post-transcriptional regulation of locomotor behavior. MicroRNAs have emerged as a potentially rich source...
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In pancreatic ductal adenocarcinoma (PDAC), the extracellular matrix (ECM) surrounding cancer cells forms a barrier that often limits the ability of chemotherapeutic drugs and cytotoxic immune subsets to penetrate and eliminate tumors. The dense stromal matrix protecting cancer cells, also known as desmoplasia, results from the overproduction of major ECM components such as collagens and hyaluronic acid (HA). Although candidate drugs targeting ECM components have shown promise in increasing penetration...
Malignant pleural mesothelioma (MPM) is an aggressive cancer with dismal prognosis, largely due to poor response rates to and rapid relapse after first-line pemetrexed (MTA)/cisplatin chemotherapy. A better understanding of the molecular mechanisms underlying chemotherapy sensitivity and duration represents a significant but still unmet clinical need. In this study, we reported on a kinome CRISPR/Cas9 knockout screen that identified several G2-M checkpoint kinases, including WEE1, whose loss of function...
Bone metastasis is a severe complication associated with various carcinomas. It causes debilitating pain and pathological fractures and dramatically impairs patients' quality of life. Drugs aimed at osteoclastogenesis significantly decrease the incidence of skeletal complications and are currently the standard of care for patients with bone metastases. Here, we reported that serum- and glucocorticoid-inducible kinase 1 (SGK1) plays a pivotal role in the formation and function of osteoclasts by regulating...
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Abstract Biallelic pathogenic variants in CA8 cause cerebellar ataxia, mental retardation and dysequilibrium syndrome 3 (CAMRQ3), a rare form of hereditary ataxia characterised by cerebellar hypoplasia/atrophy, variable intellectual disability and often quadrupedal gait. The few cases reported in the medical literature are all caused by pathogenic homozygous or compound heterozygous missense variants in CA8. We report a 9 year‐old boy with marked gross motor delay, ataxia and progressive...
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