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https://www.readbyqxmd.com/read/28655174/diagnosis-and-management-of-osteopetrosis-consensus-guidelines-from-the-osteopetrosis-working-group
#1
Calvin C Wu, Michael J Econs, Linda A DiMeglio, Karl L Insogna, Michael A Levine, Paul J Orchard, Weston P Miller, Anna Petryk, Eric T Rush, Dolores M Shoback, Leanne M Ward, Lynda E Polgreen
Background: Osteopetrosis encompasses a group of rare metabolic bone diseases characterized by impaired osteoclast activity or development, resulting in high bone mineral density. Existing guidelines focus on treatment of the severe infantile forms with hematopoietic cell transplantation (HCT), but do not address the management of patients with less severe forms for whom HCT is not the standard of care. Therefore, our objective was to develop expert consensus guidelines that would address the management of these patients...
June 26, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28654618/evidence-based-medicine-nonsyndromic-craniosynostosis
#2
Youssef Tahiri, Scott P Bartlett, Mirko S Gilardino
LEARNING OBJECTIVES: After reading this article, the participant should be able to: 1. Understand the craniofacial dysmorphology associated with nonsyndromic craniosynostosis. 2. Understand the functional concerns and preoperative considerations when treating patients with nonsyndromic craniosynostosis. 3. Understand the various treatment options available to address patients with nonsyndromic craniosynostosis. 4. Recognize the current debate with regard to timing and type of surgical intervention, and their impact on patient outcome, for patients with nonsyndromic craniosynostosis...
July 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28654563/neuroborreliosis-in-swedish-children-a-population-based-study-on-incidence-and-clinical-characteristics
#3
Liv Södermark, Vignir Sigurdsson, Wilhelmina Näs, Pernilla Wall, Birger Trollfors
BACKGROUND: Borrelia burgdorferi is a common cause of bacterial meningitis but there are very few studies on incidence in Europe. OBJECTIVE: To report the incidence and symptoms of neuroborreliosis in Swedish children. DESIGN: Medical records of children (<15 years) treated for neuroborreliosis 2002-2014 were studied retrospectively. The patients were identified in the computerized registers of discharge diagnoses at the Departments of Pediatrics and Infectious Diseases in Gothenburg, Borås, Trollhättan and Halmstad using ICD-10 diagnosis codes G51...
June 24, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28654149/young-adult-survivors-of-childhood-acute-lymphoblastic-leukemia-show-evidence-of-chronic-inflammation-and-cellular-aging
#4
Hany Ariffin, Mohamad Shafiq Azanan, Sayyidatul Syahirah Abd Ghafar, Lixian Oh, Kee Hie Lau, Tharshanadhevasheri Thirunavakarasu, Atiqah Sedan, Kamariah Ibrahim, Adelyne Chan, Tong Foh Chin, Fong Fong Liew, Shareni Jeyamogan, Erda Syerena Rosli, Rashidah Baharudin, Tsiao Yi Yap, Roderick Skinner, Su Han Lum, Pierre Hainaut
BACKGROUND: Large epidemiologic studies have reported the premature onset of age-related conditions, such as ischemic heart disease and diabetes mellitus, in childhood cancer survivors, decades earlier than in their peers. The authors investigated whether young adult survivors of childhood acute lymphoblastic leukemia (ALL) have a biologic phenotype of cellular ageing and chronic inflammation. METHODS: Plasma inflammatory cytokines were measured using a cytometric bead array in 87 asymptomatic young adult survivors of childhood ALL (median age, 25 years; age range, 18-35 years) who attended annual follow-up clinic and compared with healthy, age-matched and sex-matched controls...
June 27, 2017: Cancer
https://www.readbyqxmd.com/read/28648714/evaluation-of-a-minimum-norm-based-beamforming-technique-sloreta-for-reducing-tonic-muscle-contamination-of-eeg-at-sensor-level
#5
Azin S Janani, Tyler S Grummett, Trent W Lewis, Sean P Fitzgibbon, Emma M Whitham, Dylan DelosAngeles, Hanieh Bakhshayesh, John O Willoughby, Kenneth J Pope
BACKGROUND: Cranial and cervical muscle activity (electromyogram, EMG) contaminates the surface electroencephalogram (EEG) from frequencies below 20 through to frequencies above 100Hz. It is not possible to have a reliable measure of cognitive tasks expressed in EEG at gamma-band frequencies until the muscle contamination is removed. NEW METHOD: In the present work, we introduce a new approach of using a minimum-norm based beamforming technique (sLORETA) to reduce tonic muscle contamination at sensor level...
June 22, 2017: Journal of Neuroscience Methods
https://www.readbyqxmd.com/read/28646207/computer-aided-implant-design-for-the-restoration-of-cranial-defects
#6
Xiaojun Chen, Lu Xu, Xing Li, Jan Egger
Patient-specific cranial implants are important and necessary in the surgery of cranial defect restoration. However, traditional methods of manual design of cranial implants are complicated and time-consuming. Our purpose is to develop a novel software named EasyCrania to design the cranial implants conveniently and efficiently. The process can be divided into five steps, which are mirroring model, clipping surface, surface fitting, the generation of the initial implant and the generation of the final implant...
June 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28645917/multivalent-binding-of-pwwp2a-to-h2a-z-regulates-mitosis-and-neural-crest-differentiation
#7
Sebastian Pünzeler, Stephanie Link, Gabriele Wagner, Eva C Keilhauer, Nina Kronbeck, Ramona Mm Spitzer, Susanne Leidescher, Yolanda Markaki, Edith Mentele, Catherine Regnard, Katrin Schneider, Daisuke Takahashi, Masayuki Kusakabe, Chiara Vardabasso, Lisa M Zink, Tobias Straub, Emily Bernstein, Masahiko Harata, Heinrich Leonhardt, Matthias Mann, Ralph Aw Rupp, Sandra B Hake
Replacement of canonical histones with specialized histone variants promotes altering of chromatin structure and function. The essential histone variant H2A.Z affects various DNA-based processes via poorly understood mechanisms. Here, we determine the comprehensive interactome of H2A.Z and identify PWWP2A as a novel H2A.Z-nucleosome binder. PWWP2A is a functionally uncharacterized, vertebrate-specific protein that binds very tightly to chromatin through a concerted multivalent binding mode. Two internal protein regions mediate H2A...
June 23, 2017: EMBO Journal
https://www.readbyqxmd.com/read/28644544/the-frontal-peak-sign-a-potential-new-indication-of-open-approach-in-frontal-sinus-mucoceles-with-posterior-table-erosion-a-retrospective-chart-review-of-thirty-seven-patients
#8
Emilie Béquignon, Jean-Philippe Blancal, Jean-Pierre Guichard, Katell Ruellan, Romain Kania, Elisabeth Sauvaget, Damien Bresson, Philippe Herman, Benjamin Verillaud
To date, most frontal mucoceles are treated endoscopically, provided that there is no major neo-osteogenesis and that the frontal sinus floor is wide enough to provide an adequate working space: the presence of a sinus wall dehiscence is not considered as a contraindication to an endoscopic approach. We report on a series of 37 patients presenting with frontal sinus mucoceles with posterior table erosion. Thirty-three (89.2%) had minimal erosion and/or a limited protrusion of the mucocele within the anterior cranial fossa on CT-scan, and were successfully operated on through an endoscopic approach...
June 23, 2017: Clinical Otolaryngology
https://www.readbyqxmd.com/read/28643912/mouse-models-for-the-study-of-cranial-base-growth-and-anomalies
#9
REVIEW
S R Vora
The cranial base is a central and integral component of the cranioskeleton, yet little is known about its growth. Despite the dissimilarities between human and murine cranioskeletal form, mouse models are proving instrumental in studying craniofacial growth. The objectives of this review are to summarize recent findings from numerous mouse models that display growth defects in one or more cranial base synchondroses, with accompanying changes in chondrocyte cellular zones. Many of these models also display altered growth of the cranial vault and/or the facial region...
June 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28643905/diverse-contribution-of-col2a1-expressing-cells-to-the-craniofacial-skeletal-cell-lineages
#10
N Sakagami, W Ono, N Ono
OBJECTIVES: Craniofacial skeletal development requires deliberate coordination of two distinct mechanisms of endochondral and intramembranous ossification. Col2a1-expressing cells encompass growth-associated skeletal progenitors in endochondral bones of the limb. The objective of this study was to determine the contribution of Col2a1-expressing cells to the craniofacial skeletal cell lineages. We hypothesize that Col2a1-expressing progenitors significantly contribute to various modes of ossification associated with the craniofacial development...
June 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28643038/prevalence-of-cerebral-cavernous-malformations-associated-with-developmental-venous-anomalies-increases-with-age
#11
Waleed Brinjikji, Ali El-Rida El-Masri, John T Wald, Kelly D Flemming, Giuseppe Lanzino
BACKGROUND AND PURPOSE: To test the hypothesis that the prevalence of cerebral cavernous malformation (CCM) associated with developmental venous anomalies (DVAs) increases with age, we studied the age-related prevalence of DVA-associated CCM among patients with DVAs. MATERIALS AND METHODS: Patients with DVAs on contrast-enhanced MRI exams performed over a 2-year period were included in this study. A single neuroradiologist reviewed all imaging exams for the presence of CCMs...
June 22, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28635148/how-common-are-cranial-sesamoids-among-squamates
#12
Ricardo Montero, Juan D Daza, Aaron M Bauer, Virginia Abdala
Sesamoids are elements that originate as intratendinous structures due to genetic and epigenetic factors. These elements have been reported frequently in vertebrates, although cranial sesamoids have been recorded almost exclusively in non-tetrapod Osteichthyes. The only tetrapod cranial sesamoids reported until now have been the transiliens cartilage (of crocodiles and turtles), and another one located in the quadrate-mandibular joint of birds. Here, we examined seven squamate species using histological sections, dissections of preserved specimens, dry skeletons, cleared and stained specimens, computed tomographies (CT), and report the presence of other cranial sesamoids...
June 20, 2017: Journal of Morphology
https://www.readbyqxmd.com/read/28634310/-a-case-of-coexistent-glossopharyngeal-neuralgia-and-hemifacial-spasm-successfully-treated-with-transposition-of-the-vertebral-artery
#13
Takashi Fujii, Naoki Otani, Yohei Otsuka, Takashi Matsumoto, Shunsuke Tanoue, Hideaki Ueno, Satoshi Tomura, Arata Tomiyama, Terushige Toyooka, Kojiro Wada, Kentaro Mori
A case of coexistent glossopharyngeal neuralgia and hemifacial spasm was treated by transposition of the vertebral artery. A 60-year-old man was referred to our hospital due to pain in the left posterior part of the tongue that was difficult to control with oral medication at a local hospital. The diagnosis was left glossopharyngeal neuralgia based on the symptoms, imaging findings, and lidocaine test results. Moreover, the patient had left hemifacial spasm. Microvascular decompression was performed, which confirmed that the vertebral artery was compressing the lower cranial nerve and the posterior inferior cerebellar artery was compressing the root exit zone of the facial nerve...
June 2017: No Shinkei Geka. Neurological Surgery
https://www.readbyqxmd.com/read/28633957/displacement-patterns-of-stranded-i-125-seeds-after-permanent-brachytherapy-of-the-prostate-dosimetry-in-the-operating-room-put-into-perspective
#14
Marcel J Steggerda, Ferrie van den Boom, Thelma Witteveen, Luc M F Moonen
BACKGROUND AND PURPOSE: The reliability of post-implant dosimetry in the OR depends on the geometrical variability of implant and anatomy after the procedure. The purpose was to gain detailed information on seed displacement patterns in different sectors of the prostate. MATERIALS AND METHODS: Of 33 patients with stranded seed implants the seed geometry and the dose distribution were compared between the situation in the OR just after the procedure, based on ultrasound images, and the situation after 1month, based on registered CT and MR images...
June 17, 2017: Radiotherapy and Oncology: Journal of the European Society for Therapeutic Radiology and Oncology
https://www.readbyqxmd.com/read/28632298/patient-med-tbe-f%C3%A3-rb%C3%A3-ttrades-snabbt-vid-behandling-med-kortison-evidens-saknas-dock-f%C3%A3-r-v%C3%A3-rdet-av-immunmodulerande-terapi
#15
Carl Wengse, Jesper Ericsson, Susanna Hallberg, Johan Ursing
Rapid improvement of tick-borne encephalitis after treatment with corticosteroids Tick-borne encephalitis (TBE) is a viral disease transmitted by ticks. The virus is divided into three subtypes named Western, Siberian and Far Eastern TBE virus (TBEV). Western TBEV is endemic in parts of Europe and Sweden and typically causes a biphasic illness with influenza-like symptoms followed by neurological symptoms ranging from mild meningitis to severe meningoencephalitis and death. Despite an effective vaccine, TBE is increasing in Sweden and Europe...
June 16, 2017: Läkartidningen
https://www.readbyqxmd.com/read/28631613/repairing-a-bone-defect-with-a-three-dimensional-cellular-construct-composed-of-a-multi-layered-cell-sheet-on-electrospun-mesh
#16
Zhiwei Ren, Shiqing Ma, Le Jin, Zihao Liu, Deping Liu, Xu Zhang, Qing Cai, Xiaoping Yang
In addition to providing maneuverability, electrospun nanofibrous meshes can make excellent supports for constructing flexible cell sheets to regulate cell behavior by nanofiber features. With the target of bone regeneration, herein composite nanofibers with two different fiber arrangements (nestlike, random) were electrospun from a blend solution containing poly(l-lactide) (PLLA) and gelatin (1:1 in weight ratio). Unlike the non-woven morphology in a random nanofibrous mesh, PLLA/gelatin composite nanofibers in the nestlike nanofibrous mesh displayed both non-woven and parallel morphologies...
June 20, 2017: Biofabrication
https://www.readbyqxmd.com/read/28630337/stem-caecilian-from-the-triassic-of-colorado-sheds-light-on-the-origins-of-lissamphibia
#17
Jason D Pardo, Bryan J Small, Adam K Huttenlocker
The origin of the limbless caecilians remains a lasting question in vertebrate evolution. Molecular phylogenies and morphology support that caecilians are the sister taxon of batrachians (frogs and salamanders), from which they diverged no later than the early Permian. Although recent efforts have discovered new, early members of the batrachian lineage, the record of pre-Cretaceous caecilians is limited to a single species, Eocaecilia micropodia The position of Eocaecilia within tetrapod phylogeny is controversial, as it already acquired the specialized morphology that characterizes modern caecilians by the Jurassic...
June 19, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28629021/novel-hipsc-based-tri-culture-for-pre-vascularization-of-calcium-phosphate-scaffold-to-enhance-bone-and-vessel-formation
#18
Chi Zhang, Kevin Hu, Xian Liu, Mark A Reynolds, Chongyun Bao, Ping Wang, Liang Zhao, Hockin H K Xu
Vascularization of tissue-engineered bone is a critical step in maintaining cell viability and advancing cell performance in vivo. In this study, a novel tri-culture system was developed to elicit pre-vascularization of calcium phosphate cement (CPC) scaffold in which human induced pluripotent stem cell-derived mesenchymal stem cells (hiPSMSCs) were seeded together with human umbilical vein endothelial cells (HUVECs) and pericytes. In a two-step methodology design, we first performed osteoinduction of the seeded hiPSMSCs on the CPC scaffold and then incorporated HUVECs and pericytes to the hiPSMSC-colonized CPC scaffold under a favorable culturing condition, with an objective to form a stable and functional capillary-like vascular network that sustained the engineered osseous tissue...
October 1, 2017: Materials Science & Engineering. C, Materials for Biological Applications
https://www.readbyqxmd.com/read/28625158/a-minimally-invasive-method-for-sampling-human-petrous-bones-from-the-cranial-base-for-ancient-dna-analysis
#19
Kendra A Sirak, Daniel M Fernandes, Olivia Cheronet, Mario Novak, Beatriz Gamarra, Tímea Balassa, Zsolt Bernert, Andrea Cséki, János Dani, József Zsolt Gallina, Gábor Kocsis-Buruzs, Ivett Kővári, Orsolya László, Ildikó Pap, Róbert Patay, Zsolt Petkes, Gergely Szenthe, Tamás Szeniczey, Tamás Hajdu, Ron Pinhasi
Ancient DNA (aDNA) research involves invasive and destructive sampling procedures that are often incompatible with anthropological, anatomical, and bioarcheological analyses requiring intact skeletal remains. The osseous labyrinth inside the petrous bone has been shown to yield higher amounts of endogenous DNA than any other skeletal element; however, accessing this labyrinth in cases of a complete or reconstructed skull involves causing major structural damage to the cranial vault or base. Here, we describe a novel cranial base drilling method (CBDM) for accessing the osseous labyrinth from the cranial base that prevents damaging the surrounding cranial features, making it highly complementary to morphological analyses...
June 1, 2017: BioTechniques
https://www.readbyqxmd.com/read/28623412/long-term-follow-up-after-endoscopic-trans-sphenoidal-surgery-or-initial-observation-in-clivus-chordomas
#20
Jon Ramm-Pettersen, Radek Frič, Jon Berg-Johnsen
BACKGROUND: Resection of clivus chordomas through extensive skull base approaches is associated with high mortality and morbidity even in experienced hands. We report our experience with endoscopic trans-sphenoidal surgery, or a "wait-and-scan" strategy in selected patients. METHOD: Ten patients were diagnosed with clivus chordomas during an 8-year period. Six patients underwent primary treatment with endoscopic trans-sphenoidal surgery, followed by adjuvant proton-beam therapy in three of these patients...
June 16, 2017: Acta Neurochirurgica
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