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https://www.readbyqxmd.com/read/28328326/interleukin-12-and-interleukin-23-blockade-in-leukocyte-adhesion-deficiency-type-1
#1
Niki M Moutsopoulos, Christa S Zerbe, Teresa Wild, Nicolas Dutzan, Laurie Brenchley, Giovanni DiPasquale, Gulbu Uzel, Karen C Axelrod, Andrea Lisco, Lucia D Notarangelo, George Hajishengallis, Luigi D Notarangelo, Steven M Holland
A patient with leukocyte adhesion deficiency type 1 (LAD1) had severe periodontitis and an intractable, deep, nonhealing sacral wound. We had previously found a dominant interleukin-23-interleukin-17 signature at inflamed sites in humans with LAD1 and in mouse models of the disorder. Blockade of this pathway in mouse models has resulted in resolution of the immunopathologic condition. We treated our patient with ustekinumab, an antibody that binds the p40 subunit of interleukin-23 and interleukin-12 and thereby blocks the activity of these cytokines, inhibiting interleukin-23-dependent production of interleukin-17...
March 23, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28327190/primary-pain-generator-identification-by-ct-spect-in-a-patient-with-low-back-pain-a-case-report
#2
Gabriel Tender, Adriana Constantinescu, Andrew Conger, Anthony DiGiorgio
BACKGROUND: Chronic low back pain is one of the most common conditions encountered in the middle-age population. Identifying the primary pain generator is notoriously difficult. The computed tomography-single-photon emission computed tomography (CT-SPECT) is emerging as a new diagnostic modality for this purpose. CASE PRESENTATION: This 68-year-old Caucasian male presented with intractable low back pain refractory to maximal conservative treatment, including medication and extensive physical therapy...
March 21, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28327091/knn-mdr-a-learning-approach-for-improving-interactions-mapping-performances-in-genome-wide-association-studies
#3
Sinan Abo Alchamlat, Frédéric Farnir
BACKGROUND: Finding epistatic interactions in large association studies like genome-wide association studies (GWAS) with the nowadays-available large volume of genomic data is a challenging and largely unsolved issue. Few previous studies could handle genome-wide data due to the intractable difficulties met in searching a combinatorial explosive search space and statistically evaluating epistatic interactions given a limited number of samples. Our work is a contribution to this field...
March 21, 2017: BMC Bioinformatics
https://www.readbyqxmd.com/read/28325925/the-blood-labyrinthine-barrier-in-the-human-normal-and-meniere-s-disease-macula-utricle
#4
Gail Ishiyama, Ivan A Lopez, Paul Ishiyama, Harry V Vinters, Akira Ishiyama
The ultrastructural organization of the blood labyrinthine barrier (BLB) was investigated in the human vestibular endorgan, the utricular macula, using postmortem specimens from individuals with documented normal auditory and vestibular function and surgical specimens from patients with intractable Meniere's disease. Transmission electron microscopic analysis of capillaries located in the normal human utricular stroma showed vascular endothelial cells with few pinocytotic vesicles, covered by a smooth and uniform basement membrane surrounded by pericyte processes...
March 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28325891/whole-exome-sequencing-identifies-a-novel-de-novo-mutation-in-dync1h1-in-epileptic-encephalopathies
#5
Zhongdong Lin, Zhenwei Liu, Xiucui Li, Feng Li, Ying Hu, Bingyu Chen, Zhen Wang, Yong Liu
Epileptic encephalopathies (EE) are a group of severe childhood epilepsy disorders characterized by intractable seizures, cognitive impairment and neurological deficits. Recent whole-exome sequencing (WES) studies have implicated significant contribution of de novo mutations to EE. In this study, we utilized WES for identifying causal de novo mutations in 4 parent-offspring trios affected by West syndrome. As a result, we found two deleterious de novo mutations in DYNC1H1 and RTP1 in two trios. Expression profile analysis showed that DYNC1H1 and RTP1 are expressed in almost all brain regions and developmental stages...
March 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28324765/hd-tdcs-in-refractory-lateral-frontal-lobe-epilepsy-patients
#6
Sanaz Ahmadi Karvigh, Mahmoud Motamedi, Mahsa Arzani, Javad Hasan Nia Roshan
PURPOSE: To evaluate the anticonvulsant effect of the novel high definition transcranial direct current stimulation (HD-tDCS) method on patients with refractory lateral frontal lobe epilepsy. The effects of HD-tDCS on working memory were also examined. METHOD: 10 adult patients with intractable lateral frontal lobe epilepsy were studied. A central cathode electrode was placed on the epileptogenic zone according to LTM, and 20-min sessions of 2mA HD-tDCS were applied for 10 consecutive days...
March 14, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28324204/tibial-nerve-neuropathy-following-medial-opening-wedge-high-tibial-osteotomy-case-report-of-a-rare-technical-complication
#7
Young-Soo Shin, Hyun-Bo Sim, Jung-Ro Yoon
A 63-year-old woman developed tibial nerve injury caused by an overlong K wire and 4.5-mm cortical lag screw through the first distal hole below the osteotomy during medial opening-wedge high tibial osteotomy (HTO), leading to a lack of sensation on the sole of the foot with no disturbances in motor functions. The temporary lag screw in the first distal hole below the osteotomy is often inserted by an excessive length in order to compress the potentially fractured opposite cortex. By doing so, posterior neurovascular structures including the tibial nerve and the popliteal vessels can be injured...
March 21, 2017: European Journal of Orthopaedic Surgery & Traumatology: Orthopédie Traumatologie
https://www.readbyqxmd.com/read/28322026/objective-3d-surface-evaluation-of-intracranial-electrophysiologic-correlates-of-cerebral-glucose-metabolic-abnormalities-in-children-with-focal-epilepsy
#8
Jeong-Won Jeong, Eishi Asano, Vinod Kumar Pilli, Yasuo Nakai, Harry T Chugani, Csaba Juhász
To determine the spatial relationship between 2-deoxy-2[(18) F]fluoro-D-glucose (FDG) metabolic and intracranial electrophysiological abnormalities in children undergoing two-stage epilepsy surgery, statistical parametric mapping (SPM) was used to correlate hypo- and hypermetabolic cortical regions with ictal and interictal electrocorticography (ECoG) changes mapped onto the brain surface. Preoperative FDG-PET scans of 37 children with intractable epilepsy (31 with non-localizing MRI) were compared with age-matched pseudo-normal pediatric control PET data...
March 21, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28321380/an-evaluation-of-styloidectomy-as-an-adjunct-or-alternative-to-jugular-stenting-in-idiopathic-intracranial-hypertension-and-disturbances-of-cranial-venous-outflow
#9
J Nicholas Higgins, Mathew R Garnett, John D Pickard, Patrick R Axon
Background The extent to which intracranial venous sinus obstruction contributes to idiopathic intracranial hypertension (IIH) is debated. The extent to which extracranial venous obstruction contributes to IIH is virtually unexplored. This article describes an interventional approach to extracranial venous outflow in a group of patients with severe intractable symptoms. Objective To describe our technique and experience of styloidectomy combined with jugular stenting in the treatment of skull base narrowing of the jugular veins...
April 2017: Journal of Neurological Surgery. Part B, Skull Base
https://www.readbyqxmd.com/read/28320993/intractable-back-pain-after-coil-embolization-of-giant-veno-venous-collaterals-in-a-patient-with-fontan-circulation
#10
Seigo Okada, Masahiro Kamada, Naomi Nakagawa, Yukiko Ishiguchi, Yuji Moritoh, Mayuko Shohi, Kengo Okamoto, Shunji Hasegawa, Shouichi Ohga
Veno-venous collaterals are sometimes seen in patients after the Fontan procedure. A 28-year-old female with tricuspid atresia who underwent the Fontan procedure had oxygen desaturation due to a giant veno-venous collateral. Coil embolization was performed for the collateral. After the procedure, she complained of severe back pain. Anti-inflammatory analgesics and steroids were not effective, although carbamazepine promptly relieved the intractable pain. Treatment-related pain after coil embolization for veno-venous collaterals in patients with Fontan physiology is quite rare, although cardiologists must recognize a critical condition to be differentiated from vascular occlusion...
March 21, 2017: International Heart Journal
https://www.readbyqxmd.com/read/28319873/magnetoencephalography-with-temporal-spread-imaging-to-visualize-propagation-of-epileptic-activity
#11
Sumiya Shibata, Masao Matsuhashi, Takeharu Kunieda, Yukihiro Yamao, Rika Inano, Takayuki Kikuchi, Hisaji Imamura, Shigetoshi Takaya, Riki Matsumoto, Akio Ikeda, Ryosuke Takahashi, Tatsuya Mima, Hidenao Fukuyama, Nobuhiro Mikuni, Susumu Miyamoto
OBJECTIVE: We describe temporal spread imaging (TSI) that can identify the spatiotemporal pattern of epileptic activity using Magnetoencephalography (MEG). METHODS: A three-dimensional grid of voxels covering the brain is created. The array-gain minimum-variance spatial filter is applied to an interictal spike to estimate the magnitude of the source and the time (Ta) when the magnitude exceeds a predefined threshold at each voxel. This calculation is performed through all spikes...
January 30, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28319282/stereotactic-radiosurgery-for-essential-tremor-retrospective-analysis-of-a-19-year-experience
#12
Ajay Niranjan, Sudesh S Raju, Ali Kooshkabadi, Edward Monaco, John C Flickinger, L Dade Lunsford
BACKGROUND: Essential Tremor (ET) is a common movement disorder that can be disabling. Initial treatment is in the form of medical therapies. Patients with medically refractory ET seek surgical intervention which include radiofrequency thalamotomy, deep brain stimulation, and radiosurgical thalamotomy. Radiosurgical thalamotomy is a minimally invasive surgical option which is especially valuable for elderly and high surgical risk patients. OBJECTIVE: The purpose of this study was to retrospectively analyze the outcomes of stereotactic radiosurgery for patients suffering from medically refractory essential tremor...
March 20, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28319248/cyclic-tensile-strain-enhances-human-mesenchymal-stem-cell-smad-2-3-activation-and-tenogenic-differentiation-in-anisotropic-collagen-glycosaminoglycan-scaffolds
#13
W G Grier, A S Moy, B A Harley
Stem cell research arose from the need to explore new therapeutic possibilities for intractable and lethal diseases. Although musculoskeletal disorders are basically nonlethal, their high prevalence and relative ease of performing clinical trials have facilitated the clinical application of stem cells in this field. However, few reliable clinical studies have been published, despite the plethora of in vitro and preclinical studies in stem cell research for regenerative medicine in the musculoskeletal system...
March 20, 2017: European Cells & Materials
https://www.readbyqxmd.com/read/28318972/persistent-single-neuron-activity-during-working-memory-in-the-human-medial-temporal-lobe
#14
Simon Kornblith, Rodrigo Quian Quiroga, Christof Koch, Itzhak Fried, Florian Mormann
Working memory is an essential component of human cognition. Persistent activity related to working memory has been reported in many brain areas, including the inferior temporal and prefrontal cortex [1-8]. The medial temporal lobe (MTL) contains "concept cells" that respond invariantly to specific individuals or places whether presented as images, text, or speech [9, 10]. It is unknown, however, whether the MTL also participates in working memory processes. We thus sought to determine whether human MTL neurons respond to images held in working memory...
March 15, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28318600/strangulated-small-bowel-obstruction-in-children
#15
Yi-Jung Chang, Dah-Chin Yan, Jin-Yao Lai, Hsun-Chin Chao, Chyi-Liang Chen, Shih-Yen Chen, Ming-Han Tsai
BACKGROUND: Diagnosing intestinal strangulation as a complication of small bowel obstruction (SBO) remains a considerable challenge in children. We evaluated the clinicoradiological parameters for predicting the presence of a strangulated intestine. METHODS: We reviewed the medical records of 69 pediatric patients who underwent operation for acute SBO. Regression analysis was used to identify the parameters for predicting strangulated SBO. RESULTS: Of the 69 patients with SBO, 27 patients had intestinal strangulation and were awarded one point each towards the overall clinical score: intractable continuous abdominal pain, tachycardia, white blood cell count >13,600/mm(3), and abdominal distention...
March 12, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28318044/pathomechanisms-of-anti-cn1a-autoantibodies-in-sporadic-inclusion-body-myositis
#16
Nozomu Tawara, Satoshi Yamashita, Xiao Zhang, Mai Korogi, Ziwei Zhang, Tsukasa Doki, Yoshimasa Matsuo, Shunya Nakane, Yasushi Maeda, Kazuma Sugie, Naoki Suzuki, Masashi Aoki, Yukio Ando
OBJECTIVE: Sporadic inclusion body myositis (sIBM), an intractable progressive muscle disease, frequently occurs in older persons. sIBM pathogenesis may involve protein degradation dysfunction and immune abnormalities. Autoantibodies recognizing cytosolic 5'-nucleotidase 1A (cN1A) were found in plasma and serum from sIBM patients. Whether anti-cN1A autoantibodies play a pathogenic role in sIBM is controversial, however. This study investigated the pathogenic properties of anti-cN1A autoantibodies in sIBM pathogenesis...
March 20, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28318014/-solvent-hydrogen-bond-occlusion-a-new-model-of-polar-desolvation-for-biomolecular-energetics
#17
Andrea Bazzoli, John Karanicolas
Water engages in two important types of interactions near biomolecules: it forms ordered "cages" around exposed hydrophobic regions, and it participates in hydrogen bonds with surface polar groups. Both types of interaction are critical to biomolecular structure and function, but explicitly including an appropriate number of solvent molecules makes many applications computationally intractable. A number of implicit solvent models have been developed to address this problem, many of which treat these two solvation effects separately...
March 20, 2017: Journal of Computational Chemistry
https://www.readbyqxmd.com/read/28316640/on-the-computational-complexity-of-the-maximum-parsimony-reconciliation-problem-in-the-duplication-loss-coalescence-model
#18
Daniel Bork, Ricson Cheng, Jincheng Wang, Jean Sung, Ran Libeskind-Hadas
BACKGROUND: Phylogenetic tree reconciliation is a widely-used method for inferring the evolutionary histories of genes and species. In the duplication-loss-coalescence (DLC) model, we seek a reconciliation that explains the incongruence between a gene and species tree using gene duplication, loss, and deep coalescence events. In the maximum parsimony framework, costs are associated with these event types and a reconciliation is sought that minimizes the total cost of the events required to map the gene tree onto the species tree...
2017: Algorithms for Molecular Biology: AMB
https://www.readbyqxmd.com/read/28316363/analysis-of-double-single-index-models
#19
Kun Chen, Yanyuan Ma
Motivated from problems in canonical correlation analysis, reduced rank regression and sufficient dimension reduction, we introduce a double dimension reduction model where a single index of the multivariate response is linked to the multivariate covariate through a single index of these covariates, hence the name double single index model. Since nonlinear association between two sets of multivariate variables can be arbitrarily complex and even intractable in general, we aim at seeking a principal one-dimensional association structure where a response index is fully characterized by a single predictor index...
March 2017: Scandinavian Journal of Statistics, Theory and Applications
https://www.readbyqxmd.com/read/28315444/directional-spread-of-activity-in-synaptic-networks-of-the-human-lateral-amygdala
#20
Stéphanie Graebenitz, Manuela Cerina, Jörg Lesting, Olga Kedo, Ali Gorji, Heinz Pannek, Volkmar Hans, Karl Zilles, Hans-Christian Pape, Erwin-Josef Speckmann
Spontaneous epileptiform activity has previously been observed in lateral amygdala (LA) slices derived from patients with intractable-temporal lobe epilepsy. The present study aimed to characterize intranuclear LA synaptic connectivity and to test the hypothesis that differences in the spread of flow of neuronal activity may relate to spontaneous epileptiform activity occurrence. Electrical activity was evoked through electrical microstimulation in acute human brain slices containing the LA, signals were recorded as local field potentials combined with fast optical imaging of voltage-sensitive dye fluorescence...
March 14, 2017: Neuroscience
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