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https://www.readbyqxmd.com/read/28922105/hereditary-multiple-exostoses-clinical-molecular-and-radiologic-survey-in-9-families
#1
Karel Medek, Jiří Zeman, Tomáš Honzík, Hana Hansíková, Štěpánka Švecová, Kamila Beránková, Vendula Kučerová Vidrová, Miloslav Kuklík, Jiří Chomiak, Markéta Tesařová
Hereditary multiple exostoses (HME) represents a heterogeneous group of diseases often associated with progressive skeletal deformities. Most frequently, mutations in EXT1 and EXT2 genes with autosomal dominant inheritance are responsible for HME. In our group of 9 families with HME we evaluated the clinical course of the disease and analysed molecular background using Sanger sequencing and MLPA in EXT1 and EXT2 genes. The mean age in our group of patients, when the first exostosis was recognised was 4.5 years (range 2-10 years) and the number of exostoses per one patient documented on X-ray ranged from 2 to 54...
2017: Prague Medical Report
https://www.readbyqxmd.com/read/28914982/production-of-accurate-skeletal-models-of-domestic-animals-using-three-dimensional-scanning-and-printing-technology
#2
Fangzheng Li, Chunying Liu, Xuexiong Song, Yanjun Huan, Shansong Gao, Zhongling Jiang
Access to adequate anatomical specimens can be an important aspect in learning the anatomy of domestic animals. In this study, the authors utilized a structured light scanner and fused deposition modeling (FDM) printer to produce highly accurate animal skeletal models. First, various components of the bovine skeleton, including the femur, the fifth rib, and the sixth cervical (C6) vertebra were used to produce digital models. These were then used to produce 1:1 scale physical models with the FDM printer. The anatomical features of the digital models and three-dimensional (3D) printed models were then compared with those of the original skeletal specimens...
September 15, 2017: Anatomical Sciences Education
https://www.readbyqxmd.com/read/28914773/vitamin-d-nutritional-status-and-its-related-factors-for-chinese-children-and-adolescents-in-2010-2012
#3
Yichun Hu, Jing Chen, Rui Wang, Min Li, Chunfeng Yun, Weidong Li, Yanhua Yang, Jianhua Piao, Xiaoguang Yang, Lichen Yang
Vitamin D plays a critical role in calcium and phosphate metabolism and helps maintain skeletal integrity in childhood, yet vitamin D status in Chinese children and adolescents is not well documented. The aim of this study was to assess the vitamin D status and analyze the risk factors for vitamin D deficiency in Chinese children and adolescents aged 6-17 years. Serum 25 hydroxyvitamin D (25(OH)D) was measured with a radioimmunoassay kit in 15,000 children and adolescent participants in the Chinese national nutrition and health survey (CNNHS) 2010-2012...
September 15, 2017: Nutrients
https://www.readbyqxmd.com/read/28899858/redd1-induction-regulates-the-skeletal-muscle-gene-expression-signature-following-acute-aerobic-exercise
#4
Bradley S Gordon, Jennifer L Steiner, Michael L Rossetti, Shuxi Qiao, Leif W Ellisen, Subramaniam S Govindarajan, Alexey M Eroshkin, Dave L Williamson, Paul M Coen
The metabolic stress placed on skeletal muscle by aerobic exercise promotes acute and long-term health benefits in part through changes in gene expression. However, the transducers that mediate altered gene expression signatures have not been completely elucidated. Regulated in Development and DNA Damage 1 (REDD1) is a stress-induced protein whose expression is transiently increased in skeletal muscle following acute aerobic exercise. However, the role of this induction remains unclear. Because REDD1 altered gene expression in other model systems, we sought to determine whether REDD1 induction following acute exercise altered the gene expression signature in muscle...
September 12, 2017: American Journal of Physiology. Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28875607/the-role-of-overweight-and-obesity-on-bone-health-in-korean-adolescents-with-a-focus-on-lean-and-fat-mass
#5
Hwa Young Kim, Hae Woon Jung, Hyunsook Hong, Jae Hyun Kim, Choong Ho Shin, Sei Won Yang, Young Ah Lee
As the associations between pediatric overweight/obesity and bone health remain controversial, we investigated the effects of overweight/obesity as well as lean mass (LM) and fat mass (FM) on bone parameters in adolescents. Bone parameters were evaluated using dual-energy X-ray absorptiometry (DXA) data of 982 adolescents (aged 12-19 years) from the Korea National Health and Nutrition Examination Survey (2009-2010). Z-scores for LM, FM, bone mass, bone mineral density (BMD), and bone mineral apparent density (BMAD) using Korean pediatric reference values were used for analysis...
October 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/28857454/anatomy-education-in-occupational-therapy-curricula-perspectives-of-practitioners-in-the-united-states
#6
Katherine A Schofield
The study of human anatomy is an integral component in the education of future occupational therapists, yet there is a paucity of research that explores the anatomy needs of students and new practitioners. As a follow up from a pilot study that surveyed a small cohort of practicing therapists, this article aimed to determine occupational therapy (OT) practitioners' views on anatomy course structure and content deemed important to include in OT curricula, entry level practitioners' anatomy knowledge, and application of anatomy in current practice...
August 30, 2017: Anatomical Sciences Education
https://www.readbyqxmd.com/read/28841211/whole-body-computed-tomography-versus-conventional-skeletal-survey-in-patients-with-multiple-myeloma-a-study-of-the-international-myeloma-working-group
#7
J Hillengass, L A Moulopoulos, S Delorme, V Koutoulidis, J Mosebach, T Hielscher, M Drake, S V Rajkumar, B Oestergaard, N Abildgaard, M Hinge, T Plesner, Y Suehara, K Matsue, N Withofs, J Caers, A Waage, H Goldschmidt, M A Dimopoulos, S Lentzsch, B Durie, E Terpos
For decades, conventional skeletal survey (CSS) has been the standard imaging technique for multiple myeloma (MM). However, recently whole-body computed tomography (WBCT) has been implemented into the diagnostic criteria of MM. This analysis compares sensitivity and prognostic significance of WBCT and CSS in patients with smoldering MM (SMM) and MM. Fifty-four of 212 patients (25.5%) had a negative CSS and a positive WBCT for osteolytic lesions (P<0.0001). Of 66 patients with SMM based on CSS, 12 (22.2%) had osteolytic lesions on WBCT...
August 25, 2017: Blood Cancer Journal
https://www.readbyqxmd.com/read/28835122/biological-and-environmental-determinants-of-12-minute-run-performance-in-youth
#8
Duarte Freitas, José Maia, Mikis Stasinopoulos, Élvio Rúbio Gouveia, António M Antunes, Martine Thomis, Johan Lefevre, Albrecht Claessens, Donald Hedeker, Robert M Malina
BACKGROUND: The 12-minute run is a commonly used indicator of cardiorespiratory fitness in youth. Variation in growth and maturity status as potential correlates of test performance has not been systematically addressed. AIM: To evaluate biological and environmental determinants of 12-minute run performance in Portuguese youth aged 7-17 years. SUBJECTS AND METHODS: Mixed-longitudinal samples of 187 boys and 142 girls were surveyed in 1996, 1997 and 1998...
August 23, 2017: Annals of Human Biology
https://www.readbyqxmd.com/read/28828511/low-skeletal-muscle-mass-is-associated-with-the-risk-of-low-bone-mineral-density-in-urban-dwelling-premenopausal-women
#9
In Je Kim, Kwi Young Kang
To evaluate the relationship between skeletal muscle mass and bone mineral density (BMD) and to determine the association between low skeletal muscle mass and low BMD in urban dwelling young adults. This study was based on data from the 2008-2011 Korea National Health and Nutrition Examination Surveys. The subjects were 1702 20-49-year-old men and 2192 premenopausal women (age 20-55 years). BMD at the lumbar spine, femoral neck, and total hip and the appendicular skeletal muscle mass (ASM) were measured by dual-energy X-ray absorptiometry...
August 21, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/28800889/spatio-temporal-expression-patterns-of-wnt-signaling-pathway-during-the-development-of-temporomandibular-condylar-cartilage
#10
Kan Chen, Huixin Quan, Gang Chen, Di Xiao
There is a growing body of evidence supporting the involvement of the Wnt signaling pathway in various aspects of skeletal and joint development; however, it is unclear whether it is involved in the process of temporomandibular joint development. In order to clarify this issue, we examined the spatio-temporal distribution of mRNAs and proteins of the Wnt family during the formation of the mandibular condylar cartilage at the prenatal and postnatal stages. An in situ hybridization test revealed no mRNAs of β-catenin and Axin2 during early mesenchymal condensation; the ligands surveyed in this study (including Wnt-4, 5a, and 9a) were clearly detected at various ranges of expression, mainly in the condylar blastema and later distinct cartilaginous layers...
August 8, 2017: Gene Expression Patterns: GEP
https://www.readbyqxmd.com/read/28760192/long-sleep-duration-is-associated-with-sarcopenia-in-korean-adults-based-on-data-from-the-2008-2011-knhanes
#11
Yu-Jin Kwon, Suk-Yong Jang, Eun-Cheol Park, A-Ra Cho, Jae-Yong Shim, John A Linton
STUDY OBJECTIVES: Sarcopenia, or loss of muscle mass, occurs with aging and results in frailty, disability, cardiovascular disease, and insulin resistance. Recently, researchers have asserted that sarcopenia is not an inevitable process, but is a modifiable condition. Adequate sleep duration is also important to maintain good physical and mental health. Therefore, the aim of our study was to examine the association between sleep duration and sarcopenia in Korean adults. METHODS: Data from 16,148 participants (7,158 men and 8,990 women) were analyzed from the 2008-2011 Korean National Health and Nutrition Examination Survey (KNHANES)...
September 15, 2017: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/28748891/study-of-chronic-kidney-disease-mineral-bone-disorders-in-newly-detected-advanced-renal-failure-patients-a-hospital-based-cross-sectional-study
#12
Praveen Kumar Etta, R K Sharma, Amit Gupta
We aim to evaluate the disturbances in mineral metabolism, abnormalities in bone mineral density (BMD), and extraskeletal calcification in newly detected, untreated predialysis stage 4 and 5 chronic kidney disease (CKD) patients at a tertiary care hospital in North India. This is cross-sectional observational study. A total of 95 (68 males, 27 females) newly detected patients underwent clinical evaluation, biochemical assessment [serum calcium, phosphorus, alkaline phosphatase (ALP), albumin, creatinine, intact parathyroid hormone (iPTH), 25- hydroxyvitamin D (25(OH)D)], BMD measurement (at spine, hip, and forearm) by dual-energy X-ray absorptiometry (DXA), lateral abdominal radiograph [for abdominal aortic calcification (AAC)], skeletal survey (to look for any abnormality including fractures), and echocardiography [for any cardiac valvular calcification (CVC)]...
July 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28744080/pelvic-radiograph-in-skeletal-dysplasias-an-approach
#13
Manisha Jana, Nikhil Nair, Arun K Gupta, Madhulika Kabra, Neerja Gupta
The bony pelvis is constituted by the ilium, ischium, pubis, and sacrum. The pelvic radiograph is an important component of the skeletal survey performed in suspected skeletal dysplasia. Most of the common skeletal dysplasias have either minor or major radiological abnormalities; hence, knowledge of the normal radiological appearance of bony pelvis is vital for recognizing the early signs of various skeletal dysplasias. This article discusses many common and some uncommon radiological findings on pelvic radiographs along with the specific dysplasia in which they are seen; common differential diagnostic considerations are also discussed...
April 2017: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/28742517/type-1-rhizomelic-chondrodysplasia-punctata-with-a-homozygous-pex7-mutation
#14
Nursel Muratoğlu Şahin, Meliha Esra Bilici, Erdal Kurnaz, Melek Pala Akdoğan, Serdar Ceylaner, Zehra Aycan
BACKGROUND: Rhizomelic chondrodysplasia punctata (RCDP) is a rare peroxisomal disease characterised by punctate calcifications of non-ossified cartilage epiphyseal centres. The main biochemical marker of all RCDP types is a decrease in the levels of plasmalogens. Additionally, the accumulation of phytanic acid can be used as a differential marker between types of RDCP. Due to the biochemical overlap between types 1 and 5 RCDP, a genetic analysis of these genes should be performed in patients to identify the type...
August 28, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28732535/case-report-rare-skeletal-manifestations-in-a-child-with-primary-hyperparathyroidism
#15
Maulee Hiromi Arambewela, Kamani Danushka Liyanarachchi, Noel P Somasundaram, Aruna S Pallewatte, Gamini L Punchihewa
BACKGROUND: Primary hyperparathyroidism (PHPT) is uncommon among children with an incidence of 1:300,000. This diagnosis is often missed in children in contrast to adults where it is detected at a pre symptomatic stage due to routine blood investigations. Etiology of PHPT can be due to adenoma, hyperplasia or rarely carcinoma. CASE PRESENTATION: A 12 year old Sri Lankan girl presented with progressive difficulty in walking since 1 year. On examination she had bilateral genu valgum...
July 21, 2017: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/28731499/the-frontal-sinus-cavity-exhibits-sexual-dimorphism-in-3d-cone-beam-ct-images-and-can-be-used-for-sex-determination
#16
Isabela G G Choi, Eduardo F Duailibi-Neto, Thiago L Beaini, Renan L B da Silva, Israel Chilvarquer
Few studies have assessed the use of the frontal sinus cavities for sex differentiation. In this study, a new methodology was used to assess the reliability of CBCT images of the frontal sinus cavity for determining sex based on the sexual dimorphism found in this anatomical structure. The survey sample consisted of 130 scans that were reconstructed three-dimensionally. 3D images of the cavity volume in the frontal, lateral, and basal views were exported in TIFF. The following variables were measured in a second program: area, perimeter, bounding rectangle, ellipse fit, circularity, aspect ratio, roundness, solidity, and Feret's diameter...
July 21, 2017: Journal of Forensic Sciences
https://www.readbyqxmd.com/read/28727109/national-beef-quality-audit-2016-in-plant-survey-of-carcass-characteristics-related-to-quality-quantity-and-value-of-fed-steers-and-heifers
#17
C A Boykin, L C Eastwood, M K Harris, D S Hale, C R Kerth, D B Griffin, A N Arnold, J D Hasty, K E Belk, D R Woerner, R J Delmore, J N Martin, D L VanOverbeke, G G Mafi, M M Pfeiffer, T E Lawrence, T J McEvers, T B Schmidt, R J Maddock, D D Johnson, C C Carr, J M Scheffler, T D Pringle, A M Stelzleni, J Gottlieb, J W Savell
The National Beef Quality Audit (NBQA)-2016 used in-plant cooler assessments to benchmark the current status of the fed steer and heifer beef industry in the United States. In-plant cooler assessments ( = 9,106 carcasses) were conducted at 30 facilities, where approximately 10% of a single day's production were evaluated for USDA quality grade (QG) and yield grade (YG) factors. Frequencies of evaluated traits were 66.5% steer and 33.4% heifer sex classes and 82.9% native, 15.9% dairy-type, and 1.2% estimated breed types...
July 2017: Journal of Animal Science
https://www.readbyqxmd.com/read/28725842/understanding-patients-process-to-use-medical-marijuana-a-southern-new-jersey-community-engagement-project
#18
Tara L Crowell
Given the necessity to better understand the process patients need to go through in order to seek treatment via medical marijuana, this study investigates this process to better understand this phenomenon. Specifically, Compassion Care Foundation (CCF) and Stockton University worked together to identify a solution to this problem. Specifically, 240 new patients at CCF were asked to complete a 1-page survey regarding various aspects associated with their experience prior to their use of medicinal marijuana-diagnosis, what prompted them to seek treatment, level of satisfaction with specific stages in the process, total length of time the process took, and patient's level of pain...
September 2016: Journal of patient experience
https://www.readbyqxmd.com/read/28721528/soft-tissue-profile-changes-after-functional-mandibular-advancer-or-herbst-appliance-treatment-in-class-ii-patients
#19
Jan Hourfar, Jörg Alexander Lisson, Ulrich Gross, Linda Frye, Gero Stefan Michael Kinzinger
OBJECTIVE: The objective of the present study is to compare the effects on soft tissue profile in class II patients after treatment with either "Functional Mandibular Advancer" (FMA) or Herbst appliance. MATERIALS AND METHODS: The study included n = 42 patients treated with either FMA (n = 21) or Herbst appliance (n = 21) by the same experienced orthodontist. The treatment followed a single-step advancement protocol. Lateral cephalograms were analyzed through a set of customized measurements...
July 18, 2017: Clinical Oral Investigations
https://www.readbyqxmd.com/read/28681231/the-value-of-postmortem-computed-tomography-in-paediatric-natural-cause-of-death-a-dutch-observational-study
#20
Rick R van Rijn, Erik J Beek, Elise M van de Putte, Arianne H Teeuw, Peter G J Nikkels, Wilma L J M Duijst, Rutger-Jan A Nievelstein
BACKGROUND: Postmortem CT is a relatively new field of interest within paediatric radiology. This paper focusses on its value in cases of unexpected natural death. OBJECTIVE: We report on an observational Dutch study regarding the value of postmortem CT in children with an assumed natural unexpected death because postmortem CT is part of the Dutch NODO (additional investigations of cause of death) procedure. MATERIALS AND METHODS: We included consecutive children who fulfilled criteria for the NODO procedure and were therefore referred to one of the centres for the procedure...
July 5, 2017: Pediatric Radiology
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