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Limb development

Nikita Woodhead, Kelly M Hare, Alison Cree
The existence of sex differences in digit-length ratio (especially between the second and fourth digits, 2D:4D) is well established for humans from fetal life onwards, and has been linked with later performance. In rodents, the ratio is affected prenatally by exposure to androgens and estrogens, with some research suggesting an influence from sex of the neighbouring intrauterine fetus. However, the ubiquity and ontogenetic development of sexual dimorphism in digit ratios is not well established among wild amniotes...
March 15, 2018: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
Dilyana Filipova, Margit Henry, Tamara Rotshteyn, Anna Brunn, Mariana Carstov, Martina Deckert, Jürgen Hescheler, Agapios Sachinidis, Gabriele Pfitzer, Symeon Papadopoulos
In skeletal muscle the coordinated actions of two mechanically coupled Ca2+ channels-the 1,4-dihydropyridine receptor (Cav1.1) and the type 1 ryanodine receptor (RYR1)-underlie the molecular mechanism of rapid cytosolic [Ca2+] increase leading to contraction. While both [Ca2+]i and contractile activity have been implicated in the regulation of myogenesis, less is known about potential specific roles of Cav1.1 and RYR1 in skeletal muscle development. In this study, we analyzed the histology and the transcriptomic changes occurring at E14...
2018: PloS One
Rajani Singh, Rajnish Arora, Raj Kumar
Chiari malformations (CMs) are variant structural setup of cerebellum and brain stem at the craniovertebral junction. Normally the cerebellum and parts of the brain stem lie above the foramen magnum. When the part of the cerebellum and/or brainstem protrudes into the upper spinal canal through foramen magnum, it is defined as CM. Chiari malformations may develop when part of the skull is smaller than normal or misshapen, due to which the cerebellum herniates into spinal canal through foramen magnum. This compresses the cerebellum and brainstem affecting functions controlled by these parts and blocks the flow of cerebrospinal fluid that surrounds and cushions the brain and spinal cord...
March 14, 2018: Journal of Craniofacial Surgery
Jacob W P Potuijt, Martijn Baas, Rivka Sukenik-Halevy, Hannie Douben, Picard Nguyen, Deon J Venter, Renée Gallagher, Sigrid M Swagemakers, Steven E R Hovius, Christianne A van Nieuwenhoven, Robert-Jan H Galjaard, Peter J van der Spek, Nadav Ahituv, Annelies de Klein
PurposeThe zone of polarizing activity regulatory sequence (ZRS) is an enhancer that regulates sonic hedgehog during embryonic limb development. Recently, mutations in a noncoding evolutionary conserved sequence 500 bp upstream of the ZRS, termed the pre-ZRS (pZRS), have been associated with polydactyly in dogs and humans. Here, we report the first case of triphalangeal thumb-polysyndactyly syndrome (TPT-PS) to be associated with mutations in this region and show via mouse enhancer assays how this mutation leads to ectopic expression throughout the developing limb bud...
March 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Raquel Guimarães-Costa, Yoland Schoindre, Arnaud Metlaine, Jean-Pascal Lefaucheur, Jean-Philippe Camdessanché, Thierry Maisonobe, Jean-Marc Léger
A 59-year old woman presented with progressive paresthesias of all of her limbs for 4 years, associated with neuropathic pain, tingling in the tongue and allodynia, consistent with small-fiber neuropathy (SFN). Several systemic symptoms and signs were found on clinical examination and laboratory work-up. Neurological investigations including neurophysiologic test and skin biopsy supported the diagnosis of SFN. Chronic exposure to N-hexane was then disclosed and suspected to be the cause of the disease. Following the discontinuation of chronic N-hexane exposure, the patient had a progressive improvement of all signs and symptoms, reinforcing the correlation between exposure to N-hexane and development of SFN...
March 15, 2018: Journal of the Peripheral Nervous System: JPNS
Sumire Terasawa, Asuka Kato, Haruki Nishizawa, Takema Kato, Hikari Yoshizawa, Yoshiteru Noda, Jun Miyazaki, Mayuko Ito, Takao Sekiya, Takuma Fujii, Hiroki Kurahashi
Thanatophoric dysplasia (TD) and achondroplasia (ACH) are allelic disorders caused by a constitutively active mutation in the FGFR3 gene. Because TD is a lethal disorder and ACH is non-lethal, they need to be distinguished after ultrasound identification of fetal growth retardation with short limbs. Accordingly, we have developed a noninvasive prenatal test using cell-free fetal DNA in the maternal circulation to distinguish TD and ACH. A multiplex PCR system encompassing five mutation hotspots in the FGFR3 gene allowed us to efficiently identify the responsible mutation in cell-free DNA in all examined pregnancies with a suspected TD or ACH fetus...
March 14, 2018: Congenital Anomalies
Ruwei Ou, Qianqian Wei, Bei Cao, Wei Song, Yanbing Hou, Hui Liu, Xiaoqin Yuan, Bi Zhao, Ying Wu, Huifang Shang
Objective: To explore the clinical predictors of freezing of gait (FOG) in Chinese patients with Parkinson's disease (PD). Methods: This study included 225 patients with PD who completed a three-year follow-up visit. The end-point was the presence of FOG (freezers), which was assessed during the follow-up visit. Group comparisons were conducted, followed by a further forward binary logistic regression analysis. Results: Eighty-five patients with PD (38%) had developed FOG at the end of study...
March 2018: Brain and Behavior
Istvan Bodi, Anastasios Giamouriadis, Naomi Sibtain, Ross Laxton, Andrew King, Francesco Vergani
Background: Primary CNS malignant rhabdoid tumors are very rare in adults and much less is known about their biological behavior than in children. Recently, two adult cases of SMARCB1 (also known as INI1)-deficient tumor with rhabdoid cells have been described, suggesting an emerging group of primary meningeal SMARCB1-deficient tumors. We have recently encountered a case of INI1-deficient tumor with similar histology and immunophenotype to the above cases, but with a superficial cerebral, yet apparent intra-axial origin...
2018: Surgical Neurology International
M Musy, K Flaherty, J Raspopovic, A Robert-Moreno, J Richtsmeier, J Sharpe
To determine the developmental stage of embryonic mice we apply a geometric morphometric approach to the changing shape of the mouse limb bud as it grows from embryonic day 10 to embryonic day 15 post conception. As the ontogenetic sequence results in the de novo emergence of shape features not present in the early stages, we have created a standard ontogenetic trajectory for limb bud development - a quantitative characterization of shape change during limb morphogenesis. This trajectory of form as a function of time also gives us the reverse function: the ability to infer developmental stage from form, with a typical uncertainty of 2 hours...
March 14, 2018: Development
Sonia S Anand, Francois Caron, John W Eikelboom, Jackie Bosch, Leanne Dyal, Victor Aboyans, Maria Teresa Abola, Kelley R H Branch, Katalin Keltai, Deepak L Bhatt, Peter Verhamme, Keith A A Fox, Nancy Cook-Bruns, Vivian Lanius, Stuart J Connolly, Salim Yusuf
BACKGROUND: Patients with lower extremity peripheral artery disease (PAD) are at increased risk of major adverse cardiovascular events (MACE) and major adverse limb events (MALE). There is limited information on the prognosis of patients who suffer MALE. OBJECTIVES: Among participants with lower extremity PAD, we investigated: 1) if hospitalizations, MACE, amputations, and deaths are higher after first episode of MALE compared with PAD patients who do not experience MALE and 2) the impact of treatment with low dose rivaroxaban and aspirin compared to aspirin alone on the incidence of MALE, peripheral vascular interventions, and all peripheral vascular outcomes over a median follow-up of 21 months...
March 7, 2018: Journal of the American College of Cardiology
H M M T B Herath, S P Pahalagamage, Sunethra Senanayake
BACKGROUND: The pathogenesis of osmotic demyelination syndrome is not completely understood and usually occurs with severe and prolonged hyponatremia, particularly with rapid correction. It can occur even in normonatremic patients, especially who have risk factors like alcoholism, malnutrition and liver disease. Bilateral tongue fasciculations with denervation pattern in electromyogram is a manifestation of damage to the hypoglossal nucleus or hypoglossal nerves. Tongue fasciculations were reported rarely in some cases of osmotic demyelination syndrome, but the exact mechanism is not explained...
March 14, 2018: BMC Research Notes
Katharine M Hinchcliff, Jessica Crockett, Steven W Thorpe, Christopher O Bayne
Long ischemia times adversely affect free flap survival, and large muscle flaps are particularly vulnerable. Hypothermic machine perfusion (HMP) is a well-established method of organ preservation, and recent literature has detailed the use of HMP to extend free flap ischemia times, predominantly in the laboratory setting. One limitation in the study and adoption of free flap HMP has been the availability of standardized perfusion machinery, as thus far institutions have built their own devices. We present a case of a 75-year-old woman with dedifferentiated chondrosarcoma of her right proximal femur...
March 14, 2018: Microsurgery
Felix Stief, André Schmidt, Stefan van Drongelen, Katharina Lenarz, Dara Froemel, Timur Tarhan, Frederick Lutz, Andrea Meurer
A total hip replacement (THR) is a common and routine procedure to reduce pain and restore normal activity. Gait analysis can provide insights into functional characteristics and dynamic joint loading situation not identifiable by clinical examination or static radiographic measures. The present prospective longitudinal study tested whether two years after surgery a THR would restore dynamic loading of the knee and hip joints in the frontal plane to normal. Instrumented gait analysis was performed shortly before surgery and approximately two years after THR on 15 unilateral hip osteoarthritis patients...
March 14, 2018: Journal of Orthopaedic Research: Official Publication of the Orthopaedic Research Society
Firooz Salami, Julia Wagner, Stefan van Drongelen, Matthias C M Klotz, Thomas Dreher, Sebastian I Wolf, Mirjam Niklasch
AIM: Flexed knee gait can be treated with distal femoral extension osteotomy (DFEO) and additional patellar tendon advancement (PTA) in children with cerebral palsy (CP). This study assesses changes in hamstring muscle tendon length (MTL) and velocity after DFEO (+PTA). METHOD: Nineteen children (mean age 13y [standard deviation 3y] at surgery) with CP and flexed knee gait who were treated with DFEO (15 limbs) or DFEO+PTA (10 limbs) were retrospectively included in this study...
March 14, 2018: Developmental Medicine and Child Neurology
Kristine M Thompson, Brian T Kruse, Mary Ann S Hedges
BACKGROUND: Necrotizing fasciitis is usually associated with a surgical or traumatic wound. Clostridial myonecrosis is an uncommon but deadly infection that can develop in the absence of a wound and is often associated with occult gastrointestinal cancer or immunocompromise, or both. CASE REPORT: We report a case of catastrophic atraumatic Clostridium septicum infection in an immunocompromised host. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Emergency physicians most commonly associate necrotizing fasciitis with superinfection of an open wound...
March 10, 2018: Journal of Emergency Medicine
Gianluca U Sorrento, Philippe S Archambault, Joyce Fung
BACKGROUND: Developing rehabilitation strategies to improve functional walking and postural control in patients is a priority for rehabilitation clinicians and researchers alike. One possible strategy is the use of sensory modalities to elicit adaptive locomotor gait patterns. This study aimed to explore to what extent haptic inputs, in the form of forward-leading tensile forces delivered to the hand, compared to no force, may lead to adaptation and post-adaptation effects on gait parameters, during and after the haptic exposure, respectively...
March 13, 2018: Journal of Neuroengineering and Rehabilitation
Stefan O Schrade, Katrin Dätwyler, Marius Stücheli, Kathrin Studer, Daniel-Alexander Türk, Mirko Meboldt, Roger Gassert, Olivier Lambercy
BACKGROUND: Powered exoskeletons are a promising approach to restore the ability to walk after spinal cord injury (SCI). However, current exoskeletons remain limited in their walking speed and ability to support tasks of daily living, such as stair climbing or overcoming ramps. Moreover, training progress for such advanced mobility tasks is rarely reported in literature. The work presented here aims to demonstrate the basic functionality of the VariLeg exoskeleton and its ability to enable people with motor complete SCI to perform mobility tasks of daily life...
March 13, 2018: Journal of Neuroengineering and Rehabilitation
Fiona M Z van den Heiligenberg, Tanya Orlov, Scott N Macdonald, Eugene P Duff, David Henderson Slater, Christian F Beckmann, Heidi Johansen-Berg, Jody C Culham, Tamar R Makin
The human brain contains multiple hand-selective areas, in both the sensorimotor and visual systems. Could our brain repurpose neural resources, originally developed for supporting hand function, to represent and control artificial limbs? We studied individuals with congenital or acquired hand-loss (hereafter one-handers) using functional MRI. We show that the more one-handers use an artificial limb (prosthesis) in their everyday life, the stronger visual hand-selective areas in the lateral occipitotemporal cortex respond to prosthesis images...
March 9, 2018: Brain: a Journal of Neurology
Christopher M Daniels, Gabriel J Pavey, Jacob Arthur, Michael Noller, Jonathan A Forsberg, Benjamin K Potter
OBJECTIVES: We sought to determine what proportion of residual limbs formed heterotopic ossification (HO) in amputations sustained by US service members, the injury profile of these amputations, and what effect the number of limb amputations sustained has on resource utilization. DESIGN: Retrospective review. SETTING: A tertiary military medical center. PATIENTS: Four-hundred seventy-one consecutive patients with 714 combat-related amputations were treated at our institution between September 2009 and August 2014...
March 5, 2018: Journal of Orthopaedic Trauma
M-M Farhat, A Le Guern, C Peugniez, F Dabouz, J-F Quinchon, P Modiano
BACKGROUND: Chronic lymphoedema is classically complicated by recurring episodes of cellulitis. Degeneration to the angiosarcoma form (Stewart-Treves syndrome) is much less common. It occurs mainly in the upper limbs following surgery or radiotherapy for mammary neoplasia. Herein we report a rare case of Stewart-Treves syndrome (STS) of the lower limb as a complication of congenital lymphoedema. PATIENTS AND METHODS: A 69-year-old woman treated for bilateral lower-limb oedema present for 30years developed painful necrotic lesions in her left lower limb...
March 9, 2018: Annales de Dermatologie et de Vénéréologie
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