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https://www.readbyqxmd.com/read/28544699/renal-anomalies-and-lymphedema-distichiasis-syndrome-a-rare-association
#1
Gabriela E Jones, Anna K Richmond, Osric Navti, Hatem A Mousa, Stephen Abbs, Edward Thompson, Sahar Mansour, Pradeep C Vasudevan
Lymphedema distichiasis syndrome (LDS) is a rare, autosomal dominant genetic condition, characterized by lower limb lymphedema and distichiasis. Other associated features that have been reported include varicose veins, cleft palate, congenital heart defects, and ptosis. We update a previously reported family with a pathogenic variant in FOXC2 (c.412-413insT) where five affected individuals from the youngest generation had congenital renal anomalies detected on prenatal ultrasound scan. These included four fetuses with hydronephrosis and one with bilateral renal agenesis...
May 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28544582/evaluation-by-medical-students-of-the-educational-value-of-multi-material-and-multi-colored-three-dimensional-printed-models-of-the-upper-limb-for-anatomical-education
#2
Sreenivasulu Reddy Mogali, Wai Yee Yeong, Heang Kuan Joel Tan, Gerald Jit Shen Tan, Peter H Abrahams, Nabil Zary, Naomi Low-Beer, Michael Alan Ferenczi
For centuries, cadaveric material has been the cornerstone of anatomical education. For reasons of changes in curriculum emphasis, cost, availability, expertise, and ethical concerns, several medical schools have replaced wet cadaveric specimens with plastinated prosections, plastic models, imaging, and digital models. Discussions about the qualities and limitations of these alternative teaching resources are on-going. We hypothesize that three-dimensional printed (3DP) models can replace or indeed enhance existing resources for anatomical education...
May 19, 2017: Anatomical Sciences Education
https://www.readbyqxmd.com/read/28544026/immobilization-and-high-platelet-count-are-associated-with-thromboembolic-complications-in-heparin-induced-thrombocytopenia
#3
Juliane Bolbrinker, Edeltraut Garbe, Antonios Douros, Matthias Huber, Elisabeth Bronder, Andreas Klimpel, Frank Andersohn, Oliver Meyer, Abdulgabar Salama, Reinhold Kreutz
PURPOSE: Immune-mediated heparin-induced thrombocytopenia (HIT type II, HIT) is a potentially serious adverse drug reaction characterized by an increased risk of venous and arterial thrombosis. This study aimed to identify risk factors associated with the development of these complications. METHODS: Our study cohort included patients with HIT assembled in our pharmacovigilance center by reports from 51 collaborating hospitals in Berlin, Germany. To identify risk factors for thromboembolic complications, patients with thromboembolic events (cases) were compared to those without thromboembolic events (controls) in a case-control design...
May 24, 2017: Pharmacoepidemiology and Drug Safety
https://www.readbyqxmd.com/read/28543284/in-utero-oxcarbazepine-exposure-and-neonatal-abstinence-syndrome-case-report-and-brief-review-of-the-literature
#4
Chao-Yang Chen, Xing Li, Ling-Yue Ma, Peng-Hui Wu, Ying Zhou, Qi Feng, Yi-Min Cui
Oxcarbazepine is a second-generation antiepileptic drug that is used to treat partial seizures. Although it has been increasingly used in pregnant women, its fetal safety has not been fully validated. We describe a 12-hour-old neonate who developed neonatal abstinence syndrome (NAS) following intrauterine exposure to oxcarbazepine. The neonate was born by cesarean section to a mother who took oxcarbazepine 300 mg/day for treatment of seizures throughout her pregnancy. Approximately 12 hours after birth, the infant developed paroxysmal jitter, which mainly presented as increased excitability, irritability, limb shaking, and increased muscle tone...
May 20, 2017: Pharmacotherapy
https://www.readbyqxmd.com/read/28543040/automated-smartphone-audiometry-validation-of-a-word-recognition-test-app
#5
Nicholas A Dewyer, Patpong Jiradejvong, Jennifer Henderson Sabes, Charles J Limb
OBJECTIVES/HYPOTHESIS: Develop and validate an automated smartphone word recognition test. STUDY DESIGN: Cross-sectional case-control diagnostic test comparison. METHODS: An automated word recognition test was developed as an app for a smartphone with earphones. English-speaking adults with recent audiograms and various levels of hearing loss were recruited from an audiology clinic and were administered the smartphone word recognition test...
May 23, 2017: Laryngoscope
https://www.readbyqxmd.com/read/28542878/foot-shape-in-arboreal-birds-two-morphological-patterns-for-the-same-pincer-like-tool
#6
Anick Abourachid, Anne-Claire Fabre, Raphaël Cornette, Elizabeth Höfling
The feet are the only contact between the body and the substrate in limbed animals and as such they provide a crucial interface between the animal and its environment. This is especially true for bipedal and arboreal species living in a complex three-dimensional environment that likely induces strong selection on foot morphology. In birds, foot morphology is highly variable, with different orientations of the toes, making it a good model for the study of the role of functional, developmental, and phylogenetic constraints in the evolution of phenotypic diversity...
May 23, 2017: Journal of Anatomy
https://www.readbyqxmd.com/read/28542343/bone-marrow-cell-extract-promotes-the-regeneration-of-irradiated-bone
#7
Guillaume Michel, Pauline Blery, Michaël Henoux, Jérôme Guicheux, Pierre Weiss, Sophie Brouard, Olivier Malard, Florent Espitalier
Mandibular osteoradionecrosis is a severe side effect of radiotherapy after the treatment of squamous cell carcinomas of the upper aerodigestive tract. As an alternative to its treatment by micro-anastomosed free-flaps, preclinical tissular engineering studies have been developed. Total bone marrow (TBM) associated with biphasic calcium phosphate (BCP) significantly enhanced bone formation in irradiated bone. One mechanism, explaining how bone marrow cells can help regenerate tissues like this, is the paracrine effect...
2017: PloS One
https://www.readbyqxmd.com/read/28541915/embedded-system-for-prosthetic-control-using-implanted-neuromuscular-interfaces-accessed-via-an-osseointegrated-implant
#8
Enzo Mastinu, Pascal Doguet, Yohan Botquin, Bo Hakansson, Max Ortiz-Catalan
Despite the technological progress in robotics achieved in the last decades, prosthetic limbs still lack functionality, reliability, and comfort. Recently, an implanted neuromusculoskeletal interface built upon osseointegration was developed and tested in humans, namely the Osseointegrated Human-Machine Gateway. Here, we present an embedded system to exploit the advantages of this technology. Our artificial limb controller allows for bioelectric signals acquisition, processing, decoding of motor intent, prosthetic control, and sensory feedback...
May 23, 2017: IEEE Transactions on Biomedical Circuits and Systems
https://www.readbyqxmd.com/read/28541374/motor-function-and-incident-dementia-a-systematic-review-and-meta-analysis
#9
Jacqueline Kathleen Kueper, Mark Speechley, Navena Rebecca Lingum, Manuel Montero-Odasso
Background: cognitive and mobility decline are interrelated processes, whereby mobility decline coincides or precedes the onset of cognitive decline. Objective: to assess whether there is an association between performance on motor function tests and incident dementia. Methods: electronic database, grey literature and hand searching identified studies testing for associations between baseline motor function and incident dementia in older adults...
May 25, 2017: Age and Ageing
https://www.readbyqxmd.com/read/28541212/improvement-in-offaxis-neuromuscular-control-under-slippery-conditions-following-6-week-pivoting-neuromuscular-training
#10
Song Joo Lee, Yupeng Ren, Joel Press, Jungwha Lee, Li-Qun Zhang
Knee injuries are usually associated with offaxis loadings in the transverse and frontal planes. Thus, improvement of lower limb offaxis neuromuscular control is important in knee injury prevention and post-injury rehabilitation. The goal of this study was to investigate the effects of 6-week pivoting offaxis intensity adjustable neuromuscular control training (POINT) using a custom-made offaxis elliptical trainer on lower limb offaxis neuromuscular control performance in trained and untrained functional tasks under slippery conditions...
May 18, 2017: IEEE Transactions on Neural Systems and Rehabilitation Engineering
https://www.readbyqxmd.com/read/28540806/laparoscopic-hyperthermic-isolated-limb-perfusion-a-new-minimally-invasive-approach-for-hilp
#11
N Solari, F Sucameli, M Gipponi, F De Cian, F Cafiero
BACKGROUND: Hyperthermic isolated limb perfusion (HILP) represents a limb-sparing treatment for unresectable soft tissue sarcoma (STS) of the extremities with substantial complete response rates. HILP often provides good functional limb preservation, hence a significant improvement also in terms of quality of life of the patient. Notwithstanding these clear advantages, the traditional technique is still hindered by relatively high post-operative morbidity. METHOD: We treated a 78-year-old female with unresectable angiosarcoma of the left leg using a new surgical approach: an entirely laparoscopic HILP...
April 24, 2017: International Journal of Hyperthermia
https://www.readbyqxmd.com/read/28540495/linking-existing-instruments-to-develop-a-continuum-of-care-measure-accuracy-comparison-using-function-related-group-classification
#12
Chih-Ying Li, Sergio Romero, Kit N Simpson, Heather S Bonilha, Annie N Simpson, Ickpyo Hong, Craig A Velozo
PURPOSES: To compare measurement accuracy of test forms with varied number of items (13, 8, and 4 items) generated from the self-care physical function item bank composed of Functional Independence Measure (FIM™) and the Minimum Data Set (MDS). METHODS: Retrospective data analysis of 2499 Veterans who completed both FIM and MDS within 6 days. We compared measurement accuracy between the converted FIM (FIMc) motor score generated from the MDS and the original FIM (FIMa) motor score (13 items) at: (a) individual-level using point differences, and (b) group-level using function-related group (FRG)...
May 24, 2017: Quality of Life Research
https://www.readbyqxmd.com/read/28539665/copy-number-variants-and-candidate-gene-mutations-in-isolated-split-hand-foot-malformation
#13
Tonia C Carter, Robert J Sicko, Denise M Kay, Marilyn L Browne, Paul A Romitti, Zoё L Edmunds, Aiyi Liu, Ruzong Fan, Charlotte M Druschel, Michele Caggana, Lawrence C Brody, James L Mills
Split hand/foot malformation (SHFM) is a congenital limb deficiency with missing or shortened central digits. Some SHFM genes have been identified but the cause of many SHFM cases is unknown. We used single-nucleotide polymorphism (SNP) microarray analysis to detect copy-number variants (CNVs) in 25 SHFM cases without other birth defects from New York State (NYS), prioritized CNVs absent from population CNV databases, and validated these CNVs using quantitative real-time polymerase chain reaction (qPCR). We tested for the validated CNVs in seven cases from Iowa using qPCR, and also sequenced 36 SHFM candidate genes in all the subjects...
May 25, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28539509/fin-fold-development-in-paddlefish-and-catshark-and-implications-for-the-evolution-of-the-autopod
#14
Frank J Tulenko, James L Massey, Elishka Holmquist, Gabriel Kigundu, Sarah Thomas, Susan M E Smith, Sylvie Mazan, Marcus C Davis
The evolutionary origin of the autopod involved a loss of the fin-fold and associated dermal skeleton with a concomitant elaboration of the distal endoskeleton to form a wrist and digits. Developmental studies, primarily from teleosts and amniotes, suggest a model for appendage evolution in which a delay in the AER-to-fin-fold conversion fuelled endoskeletal expansion by prolonging the function of AER-mediated regulatory networks. Here, we characterize aspects of paired fin development in the paddlefish Polyodon spathula (a non-teleost actinopterygian) and catshark Scyliorhinus canicula (chondrichthyan) to explore aspects of this model in a broader phylogenetic context...
May 31, 2017: Proceedings. Biological Sciences
https://www.readbyqxmd.com/read/28539407/mechanical-loading-regulates-organization-of-the-actin-cytoskeleton-and-column-formation-in-postnatal-growth-plate
#15
Christy H Killion, Elizabeth H Mitchell, Corey G Duke, Rosa Serra
Longitudinal growth of bones occurs at the growth plates where chondrocytes align into columns that allow directional growth. Little is known about the mechanisms controlling chondrocytes ability to form columns. We hypothesize that mechanical load and the resulting force on chondrocytes is necessary during active growth for proper growth plate development and limb length. To test this hypothesis, we created a mouse model in which a portion of the sciatic nerve from one hind limb was transected at postnatal day 8 to cause paralysis to that limb...
May 24, 2017: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/28539399/using-theoretical-models-from-adult-stroke-recovery-to-improve-use-of-non-invasive-brain-stimulation-for-children-with-congenital-hemiparesis
#16
Yin-Liang Lin, Kelsey A Potter-Baker
Non-invasive brain stimulation has been widely used for adults with stroke to improve upper limb motor function. A recent study by Kirton and colleagues (Kirton A, Ciechanski P, Zewdie E et al. Neurology 2017, doi: 10.1212/WNL.0000000000003518) applied non-invasive brain stimulation to children with congenital hemiparesis but found no significant effect of non-invasive brain stimulation on motor function. Here, we explore theories about cortical reorganization in both adult and children with hemiparesis and discuss how to improve the approaches of non-invasive brain stimulation to generate optimal motor improvement and development for children with congenital hemiparesis...
May 24, 2017: Journal of Neurophysiology
https://www.readbyqxmd.com/read/28539259/congenital-anomalies-in-tunisia-frequency-and-risk-factors
#17
Meriem Aloui, Kaouther Nasri, Abdel Majid Ben Hamida, Raja Marrakchi, Soumeya Siala Gaïgi
BACKGROUND: Despite the high risk of recurrence of congenital malformations, there are no well-accepted preventive measures in developing countries like Tunisia. It is recommended that thorough epidemiological studies of congenital anomalies in this country are needed. The aim of this study is to assess the frequency and types of congenital anomalies in Tunisia and research some risk factors associated with occurrence of these anomalies. METHODS: In this retrospective study, all the fetuses who were autopsied during 21 years period from February 1991 to December 2011 (N=9678) at service of embryofetopathology in the Center of Maternity and Neonatology of Tunis (CMNT) were studied...
May 21, 2017: J Gynecol Obstet Hum Reprod
https://www.readbyqxmd.com/read/28538894/sweet-s-syndrome-associated-with-crohn-s-disease
#18
Caren Dos Santos Lima, Roberta Duarte Bezerra Pinto, Heliana Freitas de Oliveira Góes, Simone de Abreu Neves Salles, Enoi Aparecida Guedes Vilar, Carla Dos Santos Lima
Sweet's syndrome is an uncommon benign skin disorder, whose pathogenesis remains unknown. Its classic form is more common in women and presents itself as papular-nodular, painful and erythematous or violaceous lesions. It mainly affects the face, neck, and upper limbs. Fever and neutrophilic leukocytosis are also common features. Although it is considered a systemic disease marker in more than half of patients, the association of this condition with Crohn's disease is rare, with few cases reported in the literature, of which, none in Brazil...
March 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28538438/differential-regulation-of-the-autophagy-and-proteasome-pathways-in-skeletal-muscles-in-sepsis
#19
Flavia Stana, Marija Vujovic, Dominique Mayaki, Jean-Philippe Leduc-Gaudet, Philippe Leblanc, Laurent Huck, Sabah N A Hussain
OBJECTIVES: Skeletal muscle fiber atrophy develops in response to severe sepsis, but it is unclear as to how the proteolytic pathways that are involved in its development are differentially regulated. We investigated the link between sepsis-induced fiber atrophy and activation of the proteasome and autophagy pathways and whether the degree of activation is more severe and sustained in limb muscles than it is in the diaphragm. DESIGN: Randomized controlled experiment...
May 22, 2017: Critical Care Medicine
https://www.readbyqxmd.com/read/28538326/technology-in-strength-and-conditioning-tracking-lower-limb-exercises-with-wearable-sensors
#20
Martin A OʼReilly, Darragh F Whelan, Tomas E Ward, Eamonn Delahunt, Brian Caulfield
O'Reilly, MA, Whelan, DF, Ward, TE, Delahunt, E, and Caulfield, B. Technology in strength and conditioning tracking lower-limb exercises with wearable sensors. J Strength Cond Res 31(6): 1726-1736, 2017-Strength and conditioning (S&C) coaches offer expert guidance to help those they work with achieve their personal fitness goals. However, because of cost and availability issues, individuals are often left training without expert supervision. Recent developments in inertial measurement units (IMUs) and mobile computing platforms have allowed for the possibility of unobtrusive motion tracking systems and the provision of real-time individualized feedback regarding exercise performance...
June 2017: Journal of Strength and Conditioning Research
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