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https://www.readbyqxmd.com/read/28717060/clinical-data-analysis-of-genotypes-and-phenotypes-of-deafness-gene-mutations-in-newborns-a-retrospective-study
#1
Yating Du, Lihui Huang, Xueyao Wang, Qingjia Cui, Xiaohua Cheng, Liping Zhao, Tingting Ni
We retrospectively analyzed newborns with deafness gene mutations and summarized the relationship between genotype and phenotype to provide a basis for genetic counseling. We studied 582 subjects positive for deafness gene mutations that were treated in the otology outpatient department of Beijing Tongren Hospital, Capital Medical University, between April 2012 and April 2016. The subjects were divided into 3 categories: a diagnosed group (group A), which was further subdivided into subgroups A1 (homozygous and compound heterozygous GJB2 mutations) and A2 (homozygous and compound heterozygous SLC26A4 mutations); a drug-induced deafness group (group B, mitochondrial (Mt) gene mutations); and a mutation carrier group (group C), which was further subdivided into the subgroups C1 (GJB2 heterozygous mutations), C2 (SLC26A4 heterozygous mutations), C3 (GJB3 heterozygous mutations), and C4 (double gene mutations)...
July 17, 2017: Bioscience Trends
https://www.readbyqxmd.com/read/28716763/clinical-characteristics-of-chronic-perforated-otitis-media-in-different-age-groups
#2
Masayo Hasegawa, Akihiro Shinnabe, Hiromi Kanazawa, Yukiko Iino, Naohiro Yoshida
OBJECTIVE: We aimed to analyze preoperative and intraoperative clinical characteristics of chronic perforated otitis media by patient age. MATERIALS AND METHODS: We analyzed 137 tympanoplasties for chronic perforated otitis media in 133 patients. Exclusion criteria were ear adhesions, cholesteatoma, and a history of tympanoplasty. Patients were divided into a younger group (aged 15-39 years), a middle group (40-64 years), and an elderly group (≥65 years). We compared tympanoplasty technique (using Wullstein classification), mastoid air-cell area measured by temporal bone computed tomography, preoperative aeration of the temporal bone, mean preoperative hearing (at 500 Hz, 1000 Hz, and 2000 Hz), and patch effect calculated by the pre- and post-patch air-bone gap at frequencies of 250 Hz and 500 Hz among the three age groups...
July 17, 2017: Journal of International Advanced Otology
https://www.readbyqxmd.com/read/28716090/clinical-workflow-for-mr-only-simulation-and-planning-in-prostate
#3
Neelam Tyagi, Sandra Fontenla, Michael Zelefsky, Marcia Chong-Ton, Kyle Ostergren, Niral Shah, Lizette Warner, Mo Kadbi, Jim Mechalakos, Margie Hunt
PURPOSE: To describe the details and experience of implementing a MR-only workflow in the clinic for simulation and planning of prostate cancer patients. METHODS: Forty-eight prostate cancer patients from June 2016 - Dec 2016 receiving external beam radiotherapy were scheduled to undergo MR-only simulation. MR images were acquired for contouring (T2w axial, coronal, sagittal), synthetic-CT generation (3D FFE-based) and fiducial identification (3D bFFE-based). The total acquisition time was 25 min...
July 17, 2017: Radiation Oncology
https://www.readbyqxmd.com/read/28714408/biomaterials-and-supercritical-fluid-technologies-which-perspectives-to-fabricate-artificial-extracellular-matrix
#4
Della Porta Giovanna, E Reverchon, N Maffulli
The foundation of tissue engineering for either therapeutic or diagnostic applications is the ability to exploit living cells. Tissue engineering utilizes living cells as engineering materials implanted, seeded or bio-plotted into an artificial structure capable of supporting three-dimensional tissue formation. These structures, typically called scaffolds, are critical, both ex vivo and in vivo, to influence their own microenvironments. Scaffolds can serve the following purposes: allow cell attachment and migration, deliver and retain cells and biochemical factors, enable diffusion of vital cell nutrients or expressed products, exert certain mechanical and biological influences to modify the behaviour of the cell phase...
July 13, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28713746/unicoronal-craniosynostosis-and-plagiocephaly-correction-with-fronto-orbital-bone-remodeling-and-advancement
#5
S M Balaji
The standard surgical treatment for unilateral coronal synostosis is fronoto-orbital advancement. The technique is known for its high recurrence rate and established plagiocephaly remains a challenge. In this case report, the management of a 5-year-old with unicoronal plagiocephaly correction with fronto-orbital bone remodeling and advancement is presented. The previous surgery done at 6 months of age resulted in failure with establishment of hypertelorism and sudden progressive diminishing vision. Furthermore, temporal hallowing was evident in the imaging technique...
January 2017: Annals of Maxillofacial Surgery
https://www.readbyqxmd.com/read/28713653/frail-phenotype-might-herald-bone-health-worsening-among-end-stage-renal-disease-patients
#6
Chia-Ter Chao, Jenq-Wen Huang, Ding-Cheng Chan
BACKGROUND: Frailty exhibits a high prevalence in end-stage renal disease (ESRD) patients and is associated with adverse health-related outcomes, including falls and fractures. Available studies do not address whether frailty is associated with temporal changes in BMD. We evaluated this issue by analyzing the follow-up dual energy X-ray absorptiometry (DXA) results in an ESRD cohort. METHODS: In 2015, we enrolled forty-three ESRD patients, divided into frail, pre-frail, and robust ones based on a validated simple FRAIL scale, all receiving DXA at baseline...
2017: PeerJ
https://www.readbyqxmd.com/read/28713632/radiographic-assessment-of-the-presigmoid-retrolabyrinthine-approach
#7
Andrew K Wong, Melissa M Stamates, Anita P Bhansali, Michael Shinners, Ricky H Wong
BACKGROUND: Lesions of the petroclival fissure are difficult to access surgically. Both retrosigmoid and presigmoid retrolabyrinthine approaches have been described to successfully treat these complex tumors. The retrosigmoid approach offers quick and familiar access, whereas the presigmoid retrolabyrinthine approach reduces the operative distance and the need for cerebellar retraction. The presigmoid retrolabyrinthine approach, however, is constrained by anatomical limits that can be subject to patient variation...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28711531/transdural-indocyanine-green-videography-for-sta-mca-bypass-technical-note
#8
Hiroshi Yokota, Taiji Yonezawa, Tomonori Yamada, Seisuke Miyamae, Taekyun Kim, Yoshiaki Takamura, Katsuya Masui, Shuta Aketa
BACKGROUND: Neurosurgical application of indocyanine green (ICG) videography prior to performing a dural opening has been reported as transdural ICG videography and used during surgery of meningiomas associated with venous sinuses, as well as cranial and spinal arteriovenous malformations. However, its use for a superficial temporal artery to middle cerebral artery (STA-MCA) bypass has not been reported. METHODS: We performed a retrospective analysis of medical records of patients who underwent a transdural ICG videography technique during STA-MCA bypass procedures performed between January 2012 and March 2015...
July 12, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28711236/temporal-bone-computed-tomography-findings-associated-with-feasibility-of-endoscopic-ear-surgery
#9
Dunia Abdul-Aziz, Elliott D Kozin, Brian M Lin, Kevin Wong, Parth V Shah, Aaron K Remenschneider, Lukas D Landegger, Amy F Juliano, Michael S Cohen, Daniel J Lee
PURPOSE: There are no formal radiologic criteria to stratify patients for transcanal (TEES) or transmastoid endoscopic ear surgery for resection of cholesteatoma. We aim to determine 1) whether standard preoperative computed tomography (CT) findings are associated with the need for conversion to a transmastoid approach and 2) the amount of time added for conversion from TEES to transmastoid techniques. MATERIALS AND METHODS: Retrospective chart review of consecutive pediatric and adult cases of TEES for primary cholesteatoma from 2013 through 2015 (n=52)...
June 14, 2017: American Journal of Otolaryngology
https://www.readbyqxmd.com/read/28708918/the-influence-of-low-insertion-torque-on-primary-stability-implant-survival-and-maintenance-of-marginal-bone-levels-a-closed-cohort-prospective-study
#10
Michael R Norton
PURPOSE: The purpose of this study was to evaluate the impact of low insertion torque on primary stability and the short-term clinical outcome of single-tooth implants placed into healed ridges and fresh extraction sockets. MATERIALS AND METHODS: A cohort of n = 30 implants was self-selected on the basis that their insertion torque measured ≤ 20 Ncm. The cohort was closed with the follow-up set at 1 year. Resonance frequency analysis was evaluated in both mesiodistal (MD) and buccolingual (BL) directions at the time of implant insertion and at the time of restoration...
July 2017: International Journal of Oral & Maxillofacial Implants
https://www.readbyqxmd.com/read/28708792/can-preoperative-ct-scans-be-used-to-predict-facial-nerve-stimulation-following-ci
#11
Jonathan L Hatch, Habib G Rizk, Michael W Moore, Elizabeth E Camposeo, Shaun A Nguyen, Paul R Lambert, Ted A Meyer, Theodore R McRackan
OBJECTIVES: 1) To determine the ability of preoperative computed tomography (CT) to predict facial nerve stimulation (FNS) after cochlear implantation (CI). 2) To recognize the limitations of CT in predicting FNS. STUDY DESIGN: Patient control study. SETTING: Tertiary care academic medical center. SUBJECTS: Adult patients with CI from 2003 to 2015. METHODS: Patients with severe FNS (n = 4) were compared with randomly selected CI patients (n = 28)...
July 13, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28707211/high-accuracy-drilling-with-an-image-guided-light-weight-robot-autonomous-versus-intuitive-feed-control
#12
Sebastian Tauscher, Alexander Fuchs, Fabian Baier, Lüder A Kahrs, Tobias Ortmaier
PURPOSE: Assistance of robotic systems in the operating room promises higher accuracy and, hence, demanding surgical interventions become realisable (e.g. the direct cochlear access). Additionally, an intuitive user interface is crucial for the use of robots in surgery. Torque sensors in the joints can be employed for intuitive interaction concepts. Regarding the accuracy, they lead to a lower structural stiffness and, thus, to an additional error source. The aim of this contribution is to examine, if an accuracy needed for demanding interventions can be achieved by such a system or not...
July 13, 2017: International Journal of Computer Assisted Radiology and Surgery
https://www.readbyqxmd.com/read/28706349/training-echo-state-networks-for-rotation-invariant-bone-marrow-cell-classification
#13
Philipp Kainz, Harald Burgsteiner, Martin Asslaber, Helmut Ahammer
The main principle of diagnostic pathology is the reliable interpretation of individual cells in context of the tissue architecture. Especially a confident examination of bone marrow specimen is dependent on a valid classification of myeloid cells. In this work, we propose a novel rotation-invariant learning scheme for multi-class echo state networks (ESNs), which achieves very high performance in automated bone marrow cell classification. Based on representing static images as temporal sequence of rotations, we show how ESNs robustly recognize cells of arbitrary rotations by taking advantage of their short-term memory capacity...
2017: Neural Computing & Applications
https://www.readbyqxmd.com/read/28705930/influence-of-attenuation-correction-by-brain-perfusion-spect-ct-simulated-abnormal-bone-structure-comparison-between-chang-and-ct-methods
#14
Takayuki Shibutani, Masahisa Onoguchi, Nanako Miyamoto, Yasushi Yamamoto, Seigo Kinuya
Introduction: Brain perfusion single photon emission computed tomography (SPECT) has physical phenomena such as attenuation, scatter, and degradation of resolution that impair accuracy on data acquisition. Chang and computed tomography (CT) methods have spread application for attenuation correction (AC) and indicate the utility of AC using a brain phantom without a bone or with a normal bone structure. However, non-uniform AC of an abnormal bone structure such as postoperative bone defect following burr-hole surgery has not yet evaluated...
July 13, 2017: Journal of Nuclear Medicine Technology
https://www.readbyqxmd.com/read/28699668/poems-syndrome-2017-update-on-diagnosis-risk-stratification-and-management
#15
Angela Dispenzieri
DISEASE OVERVIEW: POEMS syndrome is a paraneoplastic syndrome due to an underlying plasma cell neoplasm. The major criteria for the syndrome are polyradiculoneuropathy, clonal plasma cell disorder (PCD), sclerotic bone lesions, elevated vascular endothelial growth factor, and the presence of Castleman disease. Minor features include organomegaly, endocrinopathy, characteristic skin changes, papilledema, extravascular volume overload, and thrombocytosis. Diagnoses are often delayed because the syndrome is rare and can be mistaken for other neurologic disorders, most commonly chronic inflammatory demyelinating polyradiculoneuropathy...
August 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28697349/styloid-process-fracture-associated-with-maxillofacial-trauma-incidence-distribution-and-management
#16
P K Tiwary, N K Sahoo, Ankur Thakral, Udayan Ranjan
PURPOSE: Fracture of the styloid process of the temporal bone has been infrequently reported. The present study evaluated the incidence, causes, distribution, and management of styloid process fracture in association with other maxillofacial fractures. MATERIALS AND METHODS: A prospective evaluation of patients with maxillofacial trauma over a period of 1 year was carried out and patients' characteristics, mode and distribution of injury, and length of styloid process were recorded...
June 23, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28697310/hypermobile-pulsatile-eardrum-attributable-to-temporal-bone-metastasis
#17
Chee-Yee Lee, Chung-Feng Hwang
No abstract text is available yet for this article.
July 1, 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/28695967/expression-of-the-alk1-family-of-type-i-bmp-admp-receptors-during-gastrula-stages-in-xenopus-embryos
#18
Avi Leibovich, Herbert Steinbeißer, Abraham Fainsod
Multiple members of the transforming growth factor beta (TGFβ) family of secreted factors play central inductive and patterning roles during embryogenesis. During gastrulation in vertebrates, the bone morphogenetic protein (BMP) sub-family is linked to formation of the embryonic organizer, Spemann's organizer in Xenopus, and dorsal-ventral mesoderm patterning. Our knowledge regarding the BMP receptors mediating this signaling is still very incomplete. The BMPR1A (ALK3) and BMPR1B (ALK6) receptors are known to mediate the BMP4 signal...
2017: International Journal of Developmental Biology
https://www.readbyqxmd.com/read/28694480/cd31hiemcnhi-vessels-support-new-trabecular-bone-formation-at-the-frontier-growth-area-in-the-bone-defect-repair-process
#19
Jimeng Wang, Yi Gao, Pengzhen Cheng, Donglin Li, Huijie Jiang, Chuanlei Ji, Shuaishuai Zhang, Chao Shen, Junqin Li, Yue Song, Tianqing Cao, Chunmei Wang, Liu Yang, Guoxian Pei
CD31hiEmcnhi vessels were a subtype of vessels in the murine skeletal system, with high levels of platelet and endothelial cell adhesion molecule-1 (PECAM-1/CD31) and endomucin (Emcn). They were reported coupling angiogenesis and osteogenesis during bone development. We investigated the distribution of these vessels in rat tibiae and their temporal and spatial distribution during the bone defect repair process to improve our understanding of the importance of these vessels. We confirmed that CD31hiEmcnhi vessels were specially distributed around the trabecular bones near metaphysis and endosteum in rat tibiae...
July 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28693327/in-situ-examination-of-osteoblast-biomineralization-on-sulfonated-polystyrene-modified-substrates-using-fourier-transform-infrared-microspectroscopy
#20
Yizhi Meng, Meghan E Faillace, Kathryn Dorst, Samantha J Palmaccio, Lisa M Miller, Yi-Xian Qin
Osteoporosis is a skeletal disorder that is characterized by the loss of bone mineral density (BMD) resulting in increased risk of fracture. However, it has been shown that BMD is not the only indicator of fracture risk, as the strength of bone depends on a number of factors, including bone mass, architecture and material properties. Physiological mineral deposition requires the formation of a properly developed extracellular matrix (ECM), which recruits calcium and phosphate ions into the synthesis of apatite crystals...
July 10, 2017: Biointerphases
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