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https://www.readbyqxmd.com/read/28343830/fall-risk-score-at-the-time-of-discharge-predicts-readmission-following-total-joint-arthroplasty
#1
Bheeshma Ravi, Zhang Nan, Adam J Schwartz, Henry D Clarke
BACKGROUND: Readmission among Medicare recipients is a leading driver of healthcare expenditure. To date, most predictive tools are too coarse for direct clinical application. Our objective in this study is to determine if a pre-existing tool to identify patients at increased risk for inpatient falls, the Hendrich Fall Risk Score, could be used to accurately identify Medicare patients at increased risk for readmission following arthroplasty, regardless of whether the readmission was due to a fall...
February 24, 2017: Journal of Arthroplasty
https://www.readbyqxmd.com/read/28328135/confirmation-of-cagsss-syndrome-as-a-distinct-entity-in-a-danish-patient-with-a-novel-homozygous-mutation-in-iars2
#2
Shahida Moosa, Annette Haagerup, Pernille Axel Gregersen, Karin Kastberg Petersen, Janine Altmüller, Holger Thiele, Peter Nürnberg, Tae-Joon Cho, Ok-Hwa Kim, Gen Nishimura, Bernd Wollnik, Ida Vogel
Since the original description of the IARS2-related cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (CAGSSS; OMIM 616007) in an extended consanguineous family of French-Canadian descent, no further patients have been reported. IARS2 (OMIM 612801) encodes the mitochondrial isoleucine-tRNA synthetase which belongs to the class-I aminoacyl-tRNA synthetase family, and has been implicated in CAGSSS and a form of Leigh syndrome. Here, we report on a female Danish patient with a novel homozygous IARS2 mutation, p...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28327649/adiposity-in-childhood-brain-tumors-a-report-from-the-canadian-study-of-determinants-of-endometabolic-health-in-children-candecide-study
#3
Kuan-Wen Wang, Russell J de Souza, Adam Fleming, Sheila K Singh, Donna L Johnston, Shayna M Zelcer, Shahrad Rod Rassekh, Sarah Burrow, Katrin Scheinemann, Lehana Thabane, M Constantine Samaan
Children with brain tumors (CBT) are at high risk of cardiovascular diseases and type 2 diabetes compared to the general population. Recently, adiposity has been reported to be more informative for cardiometabolic risk stratification than body mass index (BMI) in the general population. The goal of this study is to describe the adiposity phenotype in CBT, and to establish adiposity determinants. We recruited CBT (n = 56) and non-cancer controls (n = 106). Percent body fat (%FM), waist-to-hip ratio (WHR) and waist-to-height ratio (WHtR) were measured to determine total and central adiposity, respectively...
March 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28327142/exome-sequencing-identified-rare-variants-in-genes-hspg2-and-atp2b4-in-a-family-segregating-developmental-dysplasia-of-the-hip
#4
Sulman Basit, Alia M Albalawi, Essa Alharby, Khalid I Khoshhal
BACKGROUND: Developmental dysplasia of the hip (DDH) is a common pathological condition of the musculoskeletal system in infants which results in a congenital and developmental malformation of the hip joint. DDH is a spectrum of pathologies affecting the infant hip ranging from asymptomatic subtle radiographic signs through mild instability to frank dislocations with acetabular dysplasia. A Saudi family with three affected individuals with DDH was identified and genetic analysis was performed to detect the possible genetic defect(s) underlying DDH in the affected members of the family...
March 21, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28323136/self-reported-knee-pain-and-disability-among-healthy-individuals-reference-data-and-factors-associated-with-the-knee-injury-and-osteoarthritis-outcome-score-koos-and-koos-child
#5
Jennifer N Baldwin, Marnee J McKay, Claire E Hiller, Niamh Moloney, Elizabeth J Nightingale, Joshua Burns
OBJECTIVE: To develop normative reference data for the Knee injury and Osteoarthritis Outcome Score (KOOS) and KOOS-Child, as well as investigate socio-demographic, psychological and physical factors associated with knee pain and disability among healthy adults. METHOD: The KOOS or KOOS-Child (each containing five subscales) was administered to participants aged 8-101 years within the 1000 Norms Project, an observational study of 1000 self-reported healthy individuals...
March 16, 2017: Osteoarthritis and Cartilage
https://www.readbyqxmd.com/read/28316843/anesthetic-considerations-in-a-patient-with-myotonic-dystrophy-for-hip-labral-repair
#6
Ramon Go, David Wang, Danielle Ludwin
Myotonic Dystrophy (DM) affects multiple organ systems. Disorders such as hyperthyroidism, progressive musculoskeletal weakness, cardiac dysrhythmias, hypoventilation, and cognitive-behavioral disorders may be present in these patients. Thorough preoperative assessment and anesthetic planning are required to minimize the risk of anesthetic complications. Patients with DM can exhibit exquisite sensitivity to sedatives, neuromuscular blocking agents, and volatile anesthetics, resulting in potential postoperative complications...
2017: Case Reports in Anesthesiology
https://www.readbyqxmd.com/read/28303702/studies-on-the-quality-nutrition-in-women-with-polycystic-ovary-syndrome-pcos
#7
Małgorzata Szczuko, Patrycja Sankowska, Marta Zapałowska-Chwyć, Paweł Wysokiński
Background: Polycystic ovary syndrome (PCOS) manifests itself with various symptoms, therefore it interests representatives of many medical specializations: general practitioners, gynecologists, endocrinologists, dermatologists, cardiologists and those who deal with metabolic disorders, such as dieticians. Objective: The aim of this study was perform the qualitative assessment of components of diets of women with PCOS as one of the major factor contributing to the disease...
2017: Roczniki Państwowego Zakładu Higieny
https://www.readbyqxmd.com/read/28303384/spinopelvic-parameter-changes-and-low-back-pain-improvement-due-to-femoral-neck-anteversion-in-patients-with-severe-unilateral-primary-hip-osteoarthritis-undergoing-total-hip-replacement
#8
Andrea Piazzolla, Giuseppe Solarino, Davide Bizzoca, Viola Montemurro, Pedro Berjano, Claudio Lamartina, Biagio Moretti
PURPOSE: The study of the interrelation between hip and spine disorders is gaining increasing importance in the last years, but the link between Hip Osteoarthritis (HOA) and Low Back Pain (LBP) remains still unclear. Aim of the study is to assess the relationship between Femoral Neck Anteversion (FNA), LBP, and spinopelvic parameters in patients undergoing Total Hip Replacement (THR) for unilateral severe primary HOA. MATERIALS AND METHODS: 91 patients were recruited...
March 16, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28298064/radiographic-hip-anatomy-correlates-with-range-of-motion-and-symptoms-in-national-hockey-league-players
#9
Christopher M Larson, James R Ross, Andrew W Kuhn, Donnie Fuller, David M Rowley, M Russell Giveans, Rebecca M Stone, Asheesh Bedi
BACKGROUND: Hip disorders in athletes have been increasingly recognized. PURPOSE: To characterize radiographic hip anatomy for National Hockey League (NHL) players and correlate it with hip range of motion and hip symptoms and/or surgery. STUDY DESIGN: Cross-sectional study; Level of evidence, 3. METHODS: Fifty-nine professional hockey players (118 hips) with 1 NHL organization (mean age, 24.2 years; range, 18-36) prospectively underwent history and physician examination by 2 independent orthopaedic surgeons...
February 1, 2017: American Journal of Sports Medicine
https://www.readbyqxmd.com/read/28295573/therapeutic-plasma-exchange-for-perioperative-management-of-patients-with-congenital-factor-xi-deficiency
#10
Mohamed S Alsammak, Aneel A Ashrani, Jeffrey L Winters, Rajiv K Pruthi
BACKGROUND: Factor XI (FXI) deficiency (hemophilia C [HEM-C]) is a bleeding disorder with unpredictable severity that correlates poorly with FXI coagulation activity (FXI:C). It poses a perioperative hemostatic management challenge. For US patients with severe disease, fresh frozen plasma (FFP) or, in current use, thawed plasma is the most readily available option but comes with risk of volume overload. We report our experience of using therapeutic plasma exchange (TPE) as an alternative perioperative management strategy...
March 15, 2017: Journal of Clinical Apheresis
https://www.readbyqxmd.com/read/28293018/exploring-the-relationship-between-%C3%AE-actinin-3-deficiency-and-obesity-in-mice-and-humans
#11
P J Houweling, Y D Berman, N Turner, K G R Quinlan, J T Seto, N Yang, M Lek, D G Macarthur, G Cooney, K N North
Obesity is a worldwide health crisis and the identification of genetic modifiers of weight gain is crucial in understanding this complex disorder. A common null polymorphism in the fast fiber-specific gene ACTN3 (R577X) is known to influence skeletal muscle function and metabolism. α-Actinin-3 deficiency occurs in an estimated 1.5 billion people worldwide, and results in reduced muscle strength and a shift towards a more efficient oxidative metabolism. The X-allele has undergone strong positive selection during recent human evolution and in this study we sought to determine whether ACTN3 genotype influences weight gain and obesity in mice and humans...
March 15, 2017: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/28289001/presentation-of-calcinosis-cutis-universalis-in-mixed-connective-tissue-disorder-an-encounter-during-hip-arthroplasty
#12
Munis Ashraf, Krishnanunni Gopikrishnan, Balaji Umamahesvaran, Senthil Nathan Sambandam
A woman aged 23 years with a diagnosis of mixed connective tissue disorder presented with left groin pain extending over 6 months. Workup revealed avascular necrosis of the femoral head (Grade 3) secondary to systemic lupus erythematosus and chronic steroid intake. An uncemented total hip arthroplasty was considered as the patient was only in the third decade of life. During the preop workup, careful clinical assessment had revealed multiple subcutaneous nodules affecting the extensor musculature limited to the gluteal region, anterior and posterior aspects of the thigh...
March 13, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28276056/second-family-provides-further-evidence-for-causation-of-steel-syndrome-by-biallelic-mutations-in-col27a1
#13
Shalini Kotabagi, Hitesh Shah, Anju Shukla, Katta M Girisha
Steel syndrome is a rare disorder of the skeleton characterized by facial dysmorphism, short stature, carpal coalition, dislocated radial heads, bilateral hip dislocation and vertical talus. Homozygous variants in COL27A1 was reported in an extending family from Puerto Rico. Here, we report a five years-old girl from a non-consanguineous family with facial dysmorphism, short stature, carpal coalition, dislocation of radial heads, bilateral hip dislocation, scoliosis and vertical talus. Exome sequencing identified two novel compound heterozygous variants c...
March 9, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28271087/comparison-of-pediatric-and-general-orthopedic-surgeons-approaches-in-management-of-developmental-dysplasia-of-the-hip-and-flexible-flatfoot-the-road-to-clinical-consensus
#14
Ramin Haj Zargarbashi, Hirbod Nasiri Bonaki, Shayan Abdollah Zadegan, Taghi Baghdadi, Mohammad Hossein Nabian, Mehdi Ramezan Shirazi
Developmental dysplasia of the hip (DDH) and flatfoot are common pediatric orthopedic disorders, being referred to and managed by both general and pediatric orthopedic surgeons, through various modalities. Our study aimed to evaluate their consensus and perspective disagreements in terms of diagnostic and therapeutic approaches of the mentioned deformities. Forty participants in two groups of general orthopedic surgeons (GOS) (n=20) and pediatric orthopedic surgeons (POS) (n=20), were asked to answer an 8-item questionnaire on DDH and flexible flatfoot...
January 2017: Archives of Bone and Joint Surgery
https://www.readbyqxmd.com/read/28269804/the-application-of-a-feasible-exercise-training-program-in-the-office-setting
#15
Ardalan Shariat, Eddie T C Lam, Mehdi Kargarfard, Shamsul B M Tamrin, Mahmoud Danaee
BACKGROUND: Previous research support the claim that people who work in offices and sit for a long time are particularly prone to musculoskeletal disorders. OBJECTIVE: The main objective of this paper is to introduce an exercise training program designed to decrease muscle stiffness and pain that can be performed in the office setting. METHODS: Forty healthy office workers (age: 28±5.3 years old; body mass: 87.2±10.2 kg; height: 1.79±0...
February 27, 2017: Work: a Journal of Prevention, Assessment, and Rehabilitation
https://www.readbyqxmd.com/read/28263001/assessment-of-bone-health-in-patients-with-type-1-gaucher-disease-using-impact-microindentation
#16
Sabina Herrera, Jordi Pérez-López, Marc Moltó-Abad, Roberto Güerri-Fernández, Elena Cabezudo, Silvana Novelli, Jordi Esteve, Albert Hernández, Inmaculada Roig, Xavier Solanich, Daniel Prieto-Alhambra, Xavier Nogués, Adolfo Díez-Pérez
BACKGROUND: Gaucher disease (GD), one of the commonest lysosomal disorders (a global population incidence of 1:50,000), is characterized by beta-glucocerebrosidase deficiency. Some studies have demonstrated bone infiltration in up to 80% of patients, even if asymptomatic. Bone disorder remains the main cause of morbidity in these patients, along with osteoporosis, avascular necrosis, and bone infarcts. Enzyme replacement therapy (ERT) has been shown to improve these symptoms. METHODS: This cross-sectional study included patients with type 1 Gaucher disease (GD1) selected from the Catalan Study Group on GD...
March 6, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28256045/two-cases-of-legg-perthes-and-intellectual-disability-in-tricho-rhino-phalangeal-syndrome-type-1-associated-with-novel-trps1-mutations
#17
Jordana L Gilman, Heather A Newman, Rebecca Freeman, Kathryn E Singh, Rebecca L Puckett, David K Morohashi, Constance Stein, Kathryn Palomino, Robert Roger Lebel, Virginia E Kimonis
Tricho-Rhino-Phalangeal syndrome is a rare autosomal dominant genetic disorder caused by mutations in the TRPS1 gene. This malformation syndrome is characterized by distinctive craniofacial features including sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature. In this report, we describe two patients with the physical manifestations and genotype of TRPS type I but with learning/intellectual disability not typically described as part of the syndrome...
March 3, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28255249/association-between-obesity-and-heart-rate-variability-indices-an-intuition-toward-cardiac-autonomic-alteration-a-risk-of-cvd
#18
Ram Lochan Yadav, Prakash Kumar Yadav, Laxmi Kumari Yadav, Kopila Agrawal, Santosh Kumar Sah, Md Nazrul Islam
BACKGROUND: Obese people have a higher prevalence of cardiovascular disease, which is supposed to be due to autonomic dysfunction and/or metabolic disorder. The alterations in cardiac autonomic functions bring out the changes in the heart rate variability (HRV) indicators, an assessing tool for cardiac autonomic conditions. OBJECTIVE: To compare the cardiac autonomic activity between obese and normal weight adults and find out the highest association between the indices of HRV and obesity...
2017: Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy
https://www.readbyqxmd.com/read/28252476/athletic-hip-injuries
#19
T Sean Lynch, Asheesh Bedi, Christopher M Larson
Historically, athletic hip injuries have garnered little attention; however, these injuries account for approximately 6% of all sports injuries and their prevalence is increasing. At times, the diagnosis and management of hip injuries can be challenging and elusive for the team physician. Hip injuries are seen in high-level athletes who participate in cutting and pivoting sports that require rapid acceleration and deceleration. Described previously as the "sports hip triad," these injuries consist of adductor strains, osteitis pubis, athletic pubalgia, or core muscle injury, often with underlying range-of-motion limitations secondary to femoroacetabular impingement...
April 2017: Journal of the American Academy of Orthopaedic Surgeons
https://www.readbyqxmd.com/read/28252430/-eating-disorders-and-visceral-adipose-tissue-two-interconnected-informative-markers-of-prognosis-of-disorders-of-nutritional-status-and-risk-of-development-of-comorbidity-chronic-non-communicable-diseases
#20
G Fadieienko, Y Nikiforova
The purpose of research was to study the characteristics of eating behaviour (EB) and indicators visceral adipose tissue (VAT) in patients with NAFLD and obesity stage of 1-2 or excessive body mass on the background of hypertension (H). We examined 100 patients with NAFLD in combination with overweight and obesity of 1-2 degrees (body mass index - BMI ≥25 kg/m2) on the background of H I-II stage. Patients with NAFLD and visceral obesity on the background of stage H of I-II the identified three types of violations of EB with a significant predominance of external breach type EB (p<0,05) regardless of BMI...
January 2017: Georgian Medical News
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