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Skeletal survey

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https://www.readbyqxmd.com/read/28630853/mega-tumour-chondrosarcoma-of-humerus-an-insanely-large-tumor-and-its-social-implications
#1
Rakesh Sharma, Harminder Singh Sohal, Neeraj Malhotra
INTRODUCTION: Large size bone tumors are rare as patients present quite early. The current article reports a large chondrosarcoma removed from left humerus. The rarity of such large size tumors is focus of the report. CASE REPORT: Forty year old male presented with a huge mass in this left arm. The same patient apparently was admitted three years back for excision of the arm swelling which was relatively small that time. However the patient did not undergo surgery and was takin treatment from local bone setters during the last three years and tumor grew to a larger size during this period...
January 2017: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/28630177/integrated-genome-and-transcriptome-sequencing-identifies-a-noncoding-mutation-in-the-genome-replication-factor-donson-as-the-cause-of-microcephaly-micromelia-syndrome
#2
Gilad D Evrony, Dwight R Cordero, Jun Shen, Jennifer N Partlow, Timothy W Yu, Rachel E Rodin, R Sean Hill, Michael E Coulter, Anh-Thu N Lam, Divya Jayaraman, Dianne Gerrelli, Diana G Diaz, Chloe Santos, Victoria Morrison, Antonella Galli, Ulrich Tschulena, Stefan Wiemann, M Jocelyne Martel, Betty Spooner, Steven C Ryu, Princess C Elhosary, Jillian M Richardson, Danielle Tierney, Christopher A Robinson, Rajni Chibbar, Dana Diudea, Rebecca Folkerth, Sheldon Wiebe, A James Barkovich, Ganeshwaran H Mochida, James Irvine, Edmond G Lemire, Patricia Blakley, Christopher A Walsh
While next-generation sequencing has accelerated the discovery of human disease genes, progress has been largely limited to the "low hanging fruit" of mutations with obvious exonic coding or canonical splice site impact. In contrast, the lack of high-throughput, unbiased approaches for functional assessment of most noncoding variants has bottlenecked gene discovery. We report the integration of transcriptome sequencing (RNA-seq), which surveys all mRNAs to reveal functional impacts of variants at the transcription level, into the gene discovery framework for a unique human disease, microcephaly-micromelia syndrome (MMS)...
June 19, 2017: Genome Research
https://www.readbyqxmd.com/read/28614210/congenital-syphilis-of-bone-a-potential-mimicker-of-childhood-histiocytoses
#3
Youran Zou, Matthew A Marcus, C Guy Castles, Scott E Kilpatrick
Involvement of the skeletal system by congenital syphilis is well documented in the literature, chiefly in the form of radiologic studies, including periostitis, osteitis, and osteochondritis. Because congenital syphilis is generally recognized clinically, tissue biopsy is virtually never performed. Therefore, the histopathologic findings are less well documented and mostly exist in the older literature. We report herein the clinicoradiologic and pathologic features of a 2-month-old infant who initially presented with absence of left arm movement...
June 13, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28610630/osteosarcoma-of-the-lower-limb-metastasized-to-the-septum-and-right-side-of-the-heart-a-case-report
#4
Elisha Osati, Alice Kaijage, Reuben Muta, Peter Muhoka, Merckris Mango, Peter Kisenge, Bashir Nyangasa, Pedro Pallangyo, Delillah Kimambo, Mohamed Janabi
BACKGROUND: Metastatic cardiac tumors are far more common than primary tumors. Although the hematogenous spread of osteosarcoma is well known, the imaging findings of cardiovascular involvement by osteosarcoma are seldom reported and can be difficult to recognize. CASE PRESENTATION: A 21-year-old man of African descent presented to our center complaining of shortness of breath, awareness of heart beats, easy fatigability, swelling of lower limbs, and left-side chest discomfort for the past 6 months getting worse for the last 3 months prior to his third readmission...
June 13, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28603361/validity-of-using-multi-frequency-bioelectrical-impedance-analysis-to-measure-skeletal-muscle-mass-in-preschool-children
#5
Kanako Fujii, Akiko Ishizaki, Ayano Ogawa, Takuya Asami, Hyosong Kwon, Akinobu Tanaka, Noboru Sekiya, Shouji Hironaka
[Purposes] Although it is recommended to develop a habit of physical activities, there is no easy way to measure skeletal muscle mass in preschool children, which cause the difficulty of evaluation. The purpose of this study was to examine the validity of body composition including the skeletal muscle mass assessment using multi-frequency bioelectrical impedance analysis by comparing body fat mass obtained by using multi-frequency bioelectrical impedance analysis method and body mass index formulas. [Subjects and Methods] Ninety-four children were surveyed for age, height, weight, grip strength, maximum occlusal force, thickness of muscle and fat mass (masseter and lower limb), body fat mass, skeletal muscle mass, and calf circumference...
May 2017: Journal of Physical Therapy Science
https://www.readbyqxmd.com/read/28590346/associations-between-high-risk-alcohol-consumption-and-sarcopenia-among-postmenopausal-women
#6
Yu-Jin Kwon, Hyoung-Ji Lim, Yong-Jae Lee, Hye-Sun Lee, John A Linton, Jae Woo Lee, Hee-Taik Kang
OBJECTIVE: Sarcopenia is an age-related process, leading to cardio-metabolic diseases and disabilities. High-risk drinking is also closely related to diabetes, hypertension, and dyslipidemia, which are modifiable risk factors for sarcopenia. In the present study, we aimed to investigate the association between alcohol-drinking patterns and sarcopenia in Korean postmenopausal women. METHODS: Data from 2,373 postmenopausal women were analyzed from the 2008 to 2011 Korean National Health and Nutrition Examination Survey...
June 5, 2017: Menopause: the Journal of the North American Menopause Society
https://www.readbyqxmd.com/read/28572890/association-of-coffee-consumption-with-sarcopenia-in-korean-elderly-men-analysis-using-the-korea-national-health-and-nutrition-examination-survey-2008-2011
#7
Hyewon Chung, Ji Hyun Moon, Ju Il Kim, Mi Hee Kong, Jung Sik Huh, Hyeon Ju Kim
BACKGROUND: Sarcopenia is an age-related loss of muscle mass and strength. Coffee has antioxidant and anti-inflammatory properties that have been shown to be inversely related to the mechanism of sarcopenia. While there have been some studies on the effect of coffee on sarcopenia in animals, studies on the topic in humans are rare. Therefore, we investigated this relationship in elderly Korean men. METHODS: The cross-sectional data were derived from the 2008-2011 Korea National Health and Nutrition Examination Survey...
May 2017: Korean Journal of Family Medicine
https://www.readbyqxmd.com/read/28566158/diagnostic-challenges-in-poems-syndrome-presenting-with-polyneuropathy-a-case-series
#8
Yuebing Li, Jason Valent, Payam Soltanzadeh, Nimish Thakore, Bashar Katirji
OBJECTIVE: To analyze the clinical characteristics of patients with POEMS presenting with polyneuropathy and discuss associated diagnostic challenges. METHOD: Retrospective analysis of 6 patients from 2 tertiary-care institutions. RESULTS: Six patients presented with progressive sensorimotor deficits predominantly or exclusively in the lower extremities and were diagnosed with POEMS syndrome. In 4 patients, a diagnosis of chronic inflammatory demyelinating polyradiculopathy (CIDP) was mistakenly made...
July 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28562465/occult-head-injury-in-children-less-than-2-years-with-suspected-child-abuse-in-the-emergency-department
#9
Huma Shaikh, Brian H Wrotniak, Paula M Mazur
OBJECTIVE: This study aims to determine the frequency of clinically significant findings requiring emergent neurosurgical intervention on computed tomography (CT) in neurologically intact children admitted to the hospital with suspected abuse. METHODS: This was a retrospective review of neurologically stable children (0-24 months) in whom both skeletal survey and CT head were performed for child abuse evaluation from 2000 to 2011. RESULTS: A total of 132 patients met inclusion criteria (mean age, 7...
May 30, 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/28558678/high-prevalence-of-sarcopenia-among-binge-drinking-elderly-women-a-nationwide-population-based-study
#10
Jun-Il Yoo, Yong-Chan Ha, Young-Kyun Lee, Hana-Choi, Moon-Jib Yoo, Kyung-Hoi Koo
BACKGROUND: Alcohol consumption is considered a risk factor for sarcopenia, but the association between alcohol consumption and the prevalence of sarcopenia has not been evaluated in detail. This study was to identify the relationship between alcohol drinking patterns and the prevalence of sarcopenia in the elderly Korean population. METHODS: The cross-sectional study was performed using data from the Korea National Health and Nutrition Examination Survey. Participants were excluded if they were under the age of 65, or if data was not available regarding skeletal muscle mass or dietary intake...
May 30, 2017: BMC Geriatrics
https://www.readbyqxmd.com/read/28558098/complex-and-dynamic-chromosomal-rearrangements-in-a-family-with-seemingly-non-mendelian-inheritance-of-dopa-responsive-dystonia
#11
Katja Lohmann, Claire Redin, Holger Tönnies, Susan B Bressman, Jose Ignacio Martin Subero, Karin Wiegers, Frauke Hinrichs, Yorck Hellenbroich, Aleksandar Rakovic, Deborah Raymond, Laurie J Ozelius, Eberhard Schwinger, Reiner Siebert, Michael E Talkowski, Rachel Saunders-Pullman, Christine Klein
Importance: Chromosomal rearrangements are increasingly recognized to underlie neurologic disorders and are often accompanied by additional clinical signs beyond the gene-specific phenotypic spectrum. Objective: To elucidate the causal genetic variant in a large US family with co-occurrence of dopa-responsive dystonia as well as skeletal and eye abnormalities (ie, ptosis, myopia, and retina detachment). Design, Setting, and Participants: We examined 10 members of a family, including 5 patients with dopa-responsive dystonia and skeletal and/or eye abnormalities, from a US tertiary referral center for neurological diseases using multiple conventional molecular methods, including fluorescence in situ hybridization and array comparative genomic hybridization as well as large-insert whole-genome sequencing to survey multiple classes of genomic variations...
May 30, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28554454/diagnosis-and-treatment-planning-of-orthodontic-patients-with-3-dimensional-dentofacial-records
#12
Amornrut Manosudprasit, Arshan Haghi, Veerasathpurush Allareddy, Mohamed I Masoud
INTRODUCTION: Cephalometrics has been the foundation of orthodontic diagnosis for many years. However, for many orthodontic patients, a lateral cephalogram might not be necessary. The aim of this study was to compare the diagnosis and treatment planning agreement between standard records and nonradiographic 3-dimensional (3D) dentofacial photogrammetry records. METHODS: Twenty patients had standard orthodontic records taken for their treatment as well as extraoral and intraoral 3D images...
June 2017: American Journal of Orthodontics and Dentofacial Orthopedics
https://www.readbyqxmd.com/read/28546958/effect-of-functional-appliances-on-the-airway-dimensions-in-patients-with-skeletal-class-ii-malocclusion-a-systematic-review
#13
Annapurna Kannan, Haritha Pottipalli Sathyanarayana, Sridevi Padmanabhan
OBJECTIVES: The aim of the present systematic review was to assess the effect of functional appliances on the airway dimensions in patients with skeletal Class II malocclusion. MATERIALS AND METHODS: Articles were identified through a literature survey carried out through the following databases: (1) PUBMED, (2) Google Scholar, (3) The Cochrane Library, (4) Embase, (5) Lilac, and (6) Web of Scholars. The systematic review analyzed 12 articles comprising removable functional appliances, 3 articles with fixed functional appliances, and 2 articles having both fixed and removable functional appliances...
April 2017: Journal of Orthodontic Science
https://www.readbyqxmd.com/read/28541857/a-multidisciplinary-child-protection-team-improves-the-care-of-nonaccidental-trauma-patients
#14
John M Draus
We initiated a multidisciplinary Child Protection Team (CPT) as a subgroup of our pediatric multidisciplinary trauma peer review committee. Meetings are held monthly. Nonaccidental trauma (NAT) patients from the preceding month are reviewed. The meeting has two parts. During the open part, detectives and child protective services (CPS) workers are invited to discuss specific cases. The closed part focuses on improvement of specific processes and future outcomes. Attendance is recorded and minutes are kept. We sought to review accomplishments of this group...
May 1, 2017: American Surgeon
https://www.readbyqxmd.com/read/28540519/progeria-an-extremely-unusual-disorder
#15
Gurnihal Singh Chawla, Purva Mahesh Agrawal, Avinash Dhok
Hutchinson-Gilford progeria syndrome, also known as progeria, is an extremely rare disorder with an incidence rate of 1 in 8 million. It occurs sporadically, and patients suffering from this syndrome usually exhibit premature ageing. It has an autosomal recessive inheritance with a slight male predominance. The affected children usually die early with an average life span of 13.4 years. The most common cause of death in such patients is a cardio-vascular abnormality such as myocardial infarction. We present a rare case of progeria in an 8-year-old boy who was diagnosed clinically and was referred to our department for a skeletal survey...
August 2017: Skeletal Radiology
https://www.readbyqxmd.com/read/28505476/gender-difference-in-the-association-between-lower-muscle-mass-and-metabolic-syndrome-independent-of-insulin-resistance-in-a-middle-aged-and-elderly-taiwanese-population
#16
You-Ci Ou, Hai-Hua Chuang, Wen-Cheng Li, I-Shiang Tzeng, Jau-Yuan Chen
BACKGROUND: Loss of muscle mass was reported to be associated with metabolic syndrome (MetS), but little is known about the gender difference. Thus, the aim of this study was to evaluate the relationship between lower muscle mass and MetS and determine whether there was any gender difference or not. METHODS: A total of 394 middle-aged and elderly Taiwanese adults (138 males and 256 females) were enrolled and completed our health survey. They were stratified into three groups according to appendicular skeletal muscle mass divided by weight...
May 8, 2017: Archives of Gerontology and Geriatrics
https://www.readbyqxmd.com/read/28481907/relationship-between-anthropometric-parameters-and-open-angle-glaucoma-the-korea-national-health-and-nutrition-examination-survey
#17
Jae Yeun Lee, Tae-Woo Kim, Hyun Tae Kim, Mi Yeon Lee, Hye Won Min, Yu Sam Won, Hyun Seok Kwon, Ki Ho Park, Joon Mo Kim
AIMS: To evaluate the relationships between open-angle glaucoma (OAG) and various anthropometric measurements. DESIGN: Korea National Health and Nutrition Examination Survey (KNHANES), a population-based cross-sectional study using a complex, stratified, multistage, probability-cluster survey. METHODS: A total of 5,255 participants including 247 glaucoma patients, aged ≥ 19 years were included from the KNHANES V database. Glaucoma diagnosis was based on International Society of Geographical and Epidemiological Ophthalmology criteria...
2017: PloS One
https://www.readbyqxmd.com/read/28473860/epidemic-of-vitamin-d-deficiency-and-its-management-awareness-among-indian-medical-undergraduates
#18
Yangshen Lhamo, Preeta Kaur Chugh, Sandhya R Gautam, C D Tripathi
Vitamin D deficiency is prevalent across all age groups in epidemic proportions. The purpose of this study was to acquire a baseline assessment and create awareness among medical students regarding vitamin D. A cross-sectional, voluntary survey was conducted among undergraduate medical students. Data were collected using a questionnaire which assessed the level of knowledge students had with regard to where vitamin D comes from, what it does for health, how much is recommended, factors that affect its levels, and deficiency management...
2017: Journal of Environmental and Public Health
https://www.readbyqxmd.com/read/28473090/acr-appropriateness-criteria-%C3%A2-suspected-physical-abuse-child
#19
Sandra L Wootton-Gorges, Bruno P Soares, Adina L Alazraki, Sudha A Anupindi, Jeffrey P Blount, Timothy N Booth, Molly E Dempsey, Richard A Falcone, Laura L Hayes, Abhaya V Kulkarni, Sonia Partap, Cynthia K Rigsby, Maura E Ryan, Nabile M Safdar, Andrew T Trout, Roger F Widmann, Boaz K Karmazyn, Susan Palasis
The youngest children, particularly in the first year of life, are the most vulnerable to physical abuse. Skeletal survey is the universal screening examination in children 24 months of age and younger. Fractures occur in over half of abused children. Rib fractures may be the only abnormality in about 30%. A repeat limited skeletal survey after 2 weeks can detect additional fractures and can provide fracture dating information. The type and extent of additional imaging for pediatric patients being evaluated for suspected physical abuse depends on the age of the child, the presence of neurologic signs and symptoms, evidence of thoracic or abdominopelvic injuries, and social considerations...
May 2017: Journal of the American College of Radiology: JACR
https://www.readbyqxmd.com/read/28473035/the-combined-association-of-skeletal-muscle-strength-and-physical-activity-on-mortality-in-older-women-the-hunt2-study
#20
Trine Karlsen, Javaid Nauman, Håvard Dalen, Arnulf Langhammer, Ulrik Wisløff
OBJECTIVE: To assess the isolated and combined associations of leg and arm strength with adherence to current physical activity guidelines with all-cause and cause-specific mortality in healthy elderly women. PATIENTS AND METHODS: This was a prospective cohort study of 2529 elderly women (72.6±4.8 years) from the Norwegian Healthy survey of Northern Trøndelag (second wave) (HUNT2) between August 15, 1995, and June 18, 1997, with a median of 15.6 years (interquartile range, 10...
May 2017: Mayo Clinic Proceedings
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