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https://www.readbyqxmd.com/read/27904835/a-novel-dominant-d109a-cryab-mutation-in-a-family-with-myofibrillar-myopathy-affects-%C3%AE-b-crystallin-structure
#1
Jakub P Fichna, Anna Potulska-Chromik, Przemysław Miszta, Maria Jolanta Redowicz, Anna M Kaminska, Cezary Zekanowski, Sławomir Filipek
Myofibrillar myopathy (MFM) is a group of inherited muscular disorders characterized by myofibrils dissolution and abnormal accumulation of degradation products. So far causative mutations have been identified in nine genes encoding Z-disk proteins, including αB-crystallin (CRYAB), a small heat shock protein (also called HSPB5). Here, we report a case study of a 63-year-old Polish female with a progressive lower limb weakness and muscle biopsy suggesting a myofibrillar myopathy, and extra-muscular multisystemic involvement, including cataract and cardiomiopathy...
June 2017: BBA Clinical
https://www.readbyqxmd.com/read/27890658/magnetic-mapping-of-iron-in-rodent-spleen
#2
Angela R Blissett, Brooke Ollander, Brittany Penn, Dana M McTigue, Gunjan Agarwal
Evaluation of iron distribution and density in biological tissues is important to understand the pathogenesis of a variety of diseases and the fate of exogenously administered iron-based carriers and contrast agents. Iron distribution in tissues is typically characterized via histochemical (Perl's) stains or immunohistochemistry for ferritin, the major iron storage protein. A more accurate mapping of iron can be achieved via ultrastructural transmission electron microscopy (TEM) based techniques, which involve stringent sample preparation conditions...
November 24, 2016: Nanomedicine: Nanotechnology, Biology, and Medicine
https://www.readbyqxmd.com/read/27859463/how-many-procedures-does-it-take-success-of-a-cvs-training-program-for-maternal-fetal-medicine-fellows
#3
Alexis C Gimovsky, Sindy C Moreno, Sara Nicholas, Amanda Roman, Stuart Weiner
OBJECTIVES: To quantify the learning curve for a training program for Maternal Fetal Medicine (MFM) fellows in obtaining successful transvaginal chorionic villus sampling (CVS) results in women with early pregnancy failure (EPF). METHODS: Retrospective observational cohort study of transvaginal CVS and subsequent manual vacuum aspiration (MVA) performed by MFM fellows. CVS samples were sent for karyotype, and products of conception (POC) were sent if CVS sample did not yield a result...
November 16, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27854214/homozygosity-of-the-dominant-myotilin-c-179c-t-p-ser60phe-mutation-causes-a-more-severe-and-proximal-muscular-dystrophy
#4
Gabrielle Rudolf, Tiina Suominen, Sini Penttilä, Peter Hackman, Anni Evilä, Béatrice Lannes, Andoni Echaniz-Laguna, Guillaume Bierry, Christine Tranchant, Bjarne Udd
Most myotilinopathy patients present with a dominant late onset distal phenotype and myofibrillar pathology, although the first MYOT mutation in a family reported to have LGMD phenotype. We report here a French family affected with a late onset proximal and distal muscle weakness and myofibrillar myopathy on muscle pathology, in which the siblings known to be clinically affected were homozygous for the c.179C>T (p.Ser60Phe) myotilin gene mutation. One subjectively asymptomatic member of the family was heterozygous for this mutation...
May 27, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27848152/the-presence-and-impact-of-estrogen-metabolism-on-the-biology-of-triple-negative-breast-cancer
#5
Keely May McNamara, Saki Oguro, Fumiya Omata, Kyoko Kikuchi, Fouzia Guestini, Koyu Suzuki, Yang Yang, Eriko Abe, Hisashi Hirakawa, Kristy A Brown, Ishida Takanori, Noriaki Ohuchi, Hironobu Sasano
PURPOSE: While triple-negative breast cancer (TNBC) is negative for estrogen receptor alpha, a substantial proportion of carcinomas express estrogen receptor beta (ERβ); consequently, estrogen actions and metabolism may be relevant in this cancer subtype. METHODS: A cohort of 81 TNBC patients from Tohoku University Hospital, Japan were characterised with regard to the expression of estrogen receptor beta and enzymes known to modulate levels of estrogens in breast and other tissues (Aromatase, 17-beta- Hydroxysteroid dehydrogenases 1, 2 and 6)...
November 15, 2016: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/27816572/characterization-of-an-insect-heterodimeric-voltage-gated-sodium-channel-with-unique-alternative-splicing-mode
#6
Xuan-Zhao Jiang, Yu-Xia Pei, Wei Lei, Ke-Yi Wang, Feng Shang, Hong-Bo Jiang, Jin-Jun Wang
Recent discovery of the heterodimeric voltage-gated sodium channels (Nav) in two aphid species, Acyrthosiphon pisum and Myzus persicae, aroused interest in exploring whether this kind of channel is conserved for aphids. Herewith, we aim to provide evidence for the conservation of heterodimeric Navs in aphids and investigate whether they have unique splicing patterns. We found that the only identifiable Nav from Toxoptera citricida consisted of two subunits, forming a heterodimeric Nav, which carried an atypical "DENS" ion selectivity filter and a conventional "MFM" inactivation gate, confirming the heterodimeric Navs' conservation within aphids...
November 2, 2016: Comparative Biochemistry and Physiology. Part B, Biochemistry & Molecular Biology
https://www.readbyqxmd.com/read/27732985/retirement-age-ranges-from-clinical-practice-of-maternal-fetal-medicine-physicians
#7
Bradley D Holbrook, Stephen M Petterson, William F Rayburn
Objectives Retirement of "baby boomer" physicians is a matter of growing concern in light of the shortage of certain physician groups. The objectives of this investigation were to define what constitutes a customary retirement age range of maternal-fetal medicine (MFM) physicians and examine how that compares with other obstetrician-gynecologist (ob-gyn) specialists. Study Design This descriptive study was based on American Medical Association Masterfile survey data from 2010 to 2014. Data from the National Provider Identifier were used to correct for upward bias in reporting retirement ages...
October 12, 2016: American Journal of Perinatology
https://www.readbyqxmd.com/read/27727048/inter-segmental-motions-of-the-foot-in-healthy-adults-gender-difference
#8
Dong Yeon Lee, Sang Gyo Seo, Eo Jin Kim, Sung Ju Kim, Kyoung Min Lee, In Ho Choi
BACKGROUND: Multi-segment Foot Models (MFM) have increased in use for both clinical and research applications; however, little is known about the gender differences of inter-segmental motions within the foot and ankle during gait. The objectives of this study were to analyze the gender differences of inter-segmental foot motion during gait in healthy young adults using a MFM with a 15-marker set. METHODS: One hundred healthy adults (50 males, 50 females) between 20 and 35 years of age who had normal function and no radiographic abnormality, were evaluated...
October 7, 2016: Journal of Orthopaedic Science: Official Journal of the Japanese Orthopaedic Association
https://www.readbyqxmd.com/read/27722330/direct-observation-of-magnetic-vortex-behavior-in-an-ordered-la0-7sr0-3mno3-dot-arrays
#9
Zhenghua Li, Dapeng Dong, Dedi Liu, Jia Liu, Dongping Liu, Xiang Li
Directly observing the magnetic domain behavior in patterned nanostructures is crucial to the investigation into advanced spin-based devices. Herein, we show that the magnetic vortex behavior can be deterministically observed and controlled in highly spin polarized La0.7Sr0.3MnO3 (LSMO) triangular dots by successive in-field magnetic force microscopy (MFM). Imaging the magnetic domains with MFM shows that most of the LSMO dots exhibit magnetic vortex states with a clockwise or anticlockwise "pinwheel" structure for decreasing the demagnetization energy...
October 12, 2016: Physical Chemistry Chemical Physics: PCCP
https://www.readbyqxmd.com/read/27680403/quantitative-nanoscale-magnetic-study-of-isolated-diameter-modulated-fecocu-nanowires
#10
Luis Alfredo Rodríguez, Cristina Bran, David Reyes, Eider Berganza, Manuel Vázquez, Christophe Gatel, Etienne Snoeck, Agustina Asenjo
The comprehension of the magnetic configuration in FeCoCu nanowires with a diameter-modulated cylindrical geometry will allow controlling the domain wall motion in this low-dimensional system under the application of magnetic fields and/or the injection of current pulses. Here we perform a quantitative magnetic characterization of isolated diameter-modulated FeCoCu nanowires by combining nanoscale magnetic characterization techniques such as electron holography, magnetic force microscopy, and micromagnetic simulations...
October 6, 2016: ACS Nano
https://www.readbyqxmd.com/read/27677021/the-motor-function-measure-mfm-in-the-facio-scapulo-humeral-dystrophy-fshd-population-description-and-responsiveness
#11
Capucine de Lattre, Pascal Rippert, Dalil Hmaroun, Sabrina Sacconi, Isabelle Poirot, Carole Vuillerot
OBJECTIVE: To assess the applicability and the responsiveness of the motor function measure 1 (MFM) in a facio scapulo humeral dystrophy (FSHD) population. MATERIALS/PATIENTS AND METHODS: It is an observational, retrospective and multicenter, cohort study. MFM data came from the MFM database (see http://www.motor-function-measure.org/data-bank.aspx). Only FSHD patients with at least one MFM-32 were included. The distributions of the MFM scores (total score and MFM D1, D2 and D3 subscores) were analyzed by age...
September 2016: Annals of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/27677019/innovative-method-for-motor-functions-evaluation-in-sma-type-2-and-3-patients
#12
Carole Vuillerot, D Vincent-Genod, G Thomann, J Coton
OBJECTIVE: Physiotherapists are demanding of valid outcome measures to assess the evolution of their patient's motor functions in order to precisely describe the effects of treatments and the progress of diseases. Hence, several scales such as the motor function measure (MFM) have been developed with the aim to measure, with validity and reproducibility and sensitivity, the motor functions of patients with neuromuscular disease. The originality of our approach is to quantitatively measure the children's motor functions with a low-cost, non-invasive and plug and play technological tool that avoid the uncertain characteristic of human evaluation and increase children's involvement...
September 2016: Annals of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/27677014/2005-2015-ten-years-clinical-experience-in-treating-dmd-patients-by-corticosteroids-in-lyon
#13
Stéphanie Fontaine Carbonnel, Pascal Rippert, Isabelle Poirot, Dominique Gachet, Capucine de Lattre, Carole Vuillerot
OBJECTIVE: Since 2005, in France, corticosteroid therapy is now widely used in Duchenne muscular dystrophy (DMD). This treatment has changed our practice of pediatric rehabilitation teams. We describe here our 10-year clinical experience in treating DMD patients by CS according to international guidelines i.e. prednisone 0.75mg/kg/day started from the plateau of motor function. MATERIALS/PATIENTS AND METHODS: We conducted a prospective study. Information was given on the expected effects and side effects...
September 2016: Annals of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/27677012/the-motor-function-measure-mfm-in-the-myotonic-dystrophy-type-1-population-description-and-responsiveness
#14
Capucine de Lattre, Pascal Rippert, Guillaume Bassez, Dalil Hamroun, Isabelle Poirot, Carole Vuillerot
OBJECTIVE: To assess the applicability and the responsiveness of the motor function measure 1 (MFM) in the myotonic dystrophy type 1 (DM1) population. MATERIALS/PATIENTS AND METHODS: We conducted an observational, retrospective, multicenter cohort study using data from the MFM database (http://www.motor-function-measure.org/data-bank.aspx). Only DM1 patients with at least one MFM-32 score were included. The distributions of the MFM scores (total score and 3 subscores) were analyzed by age...
September 2016: Annals of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/27665845/amides-do-not-always-work-observation-of-guest-binding-in-an-amide-functionalised-porous-host
#15
Oguarabau Benson, Ivan da Silva, Stephen P Argent, Rafel Cabot, Mathew Savage, Harry G W Godfrey, Yong Yan, Stewart F Parker, Pascal Manuel, Matthew J Lennox, Tamoghna Mitra, Timothy L Easun, William Lewis, Alexander J Blake, Elena Besley, Sihai Yang, Martin Schröder
An amide-functionalised metal organic framework material, MFM-136, shows a high CO2 uptake of 12.6 mmol g-1 at 20 bar and 298 K. MFM-136 is the first example of acylamide pyrimidyl isophthalate MOF without open metal sites, and thus provides a unique platform to study guest binding, particularly the role of free amides. Neutron diffraction reveals that, surprisingly, there is no direct binding between the adsorbed CO2/CH4 molecules and the pendant amide group in the pore. This observation has been confirmed unambiguously by inelastic neutron spectroscopy...
September 26, 2016: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/27660886/benefits-of-bifidobacterium-animalis-subsp-lactis-probiotic-in-experimental-periodontitis
#16
Luiz F F Oliveira, Sérgio L Salvador, Pedro H F Silva, Flávia A C Furlaneto, Luciene Figueiredo, Renato Casarin, Edilson Ervolino, Daniela B Palioto, Sérgio L S Souza, Mario Taba, Arthur B Novaes, Michel R Messora
BACKGROUND: This study evaluated the effects of topical administration of probiotic bacteria (PROB) of the genus Bifidobacterium on experimental periodontitis (EP) in rats. METHODS: 32 rats were divided into groups C (control; without EP), EP (EP only), C-HN019 (control+PROB) and EP-HN019 (EP+PROB). On day 0 of the experiment, animals of groups EP and EP-HN019 received cotton ligatures around mandibular first molars (MFM). In groups C-HN019 and EP-HN019, 1mL of suspensions containing Bifidobacterium animalis subsp lactis (B...
September 23, 2016: Journal of Periodontology
https://www.readbyqxmd.com/read/27638134/myofibrillar-and-distal-myopathies
#17
J Palmio, B Udd
Distal myopathies and myofibrillar myopathies are both rare subcategories of muscle diseases. Myofibrillar myopathies are genetically heterogeneous group of diseases characterized by distinctive histopathology of abnormal protein aggregations and myofibrillar disintegration. All genes causing myofibrillar myopathy encode proteins that either reside in or associate with the Z-disc. Distal myopathies are also genetically heterogeneous muscular dystrophies in which muscle weakness presents distally in the feet and/or hands...
October 2016: Revue Neurologique
https://www.readbyqxmd.com/read/27633507/cardiac-arrhythmia-and-late-onset-muscle-weakness-caused-by-a-myofibrillar-myopathy-with-unusual-histopathological-features-due-to-a-novel-missense-mutation-in-flnc
#18
D Avila-Smirnow, L Gueneau, S Batonnet-Pichon, F Delort, H-M Bécane, K Claeys, M Beuvin, B Goudeau, J-P Jais, I Nelson, P Richard, R Ben Yaou, N B Romero, K Wahbi, S Mathis, T Voit, D Furst, P van der Ven, R Gil, P Vicart, M Fardeau, G Bonne, A Behin
Myofibrillar myopathies (MFM) are mostly adult-onset diseases characterized by progressive morphological alterations of the muscle fibers beginning in the Z-disk and the presence of protein aggregates in the sarcoplasm. They are mostly caused by mutations in different genes that encode Z-disk proteins, including DES, CRYAB, LDB3, MYOT, FLNC and BAG3. A large family of French origin, presenting an autosomal dominant pattern, characterized by cardiac arrhythmia associated to late-onset muscle weakness, was evaluated to clarify clinical, morphological and genetic diagnosis...
October 2016: Revue Neurologique
https://www.readbyqxmd.com/read/27618136/mitochondrial-dysfunction-in-myofibrillar-myopathy
#19
Amy E Vincent, John P Grady, Mariana C Rocha, Charlotte L Alston, Karolina A Rygiel, Rita Barresi, Robert W Taylor, Doug M Turnbull
Myofibrillar myopathies (MFM) are characterised by focal myofibrillar destruction and accumulation of myofibrillar elements as protein aggregates. They are caused by mutations in the DES, MYOT, CRYAB, FLNC, BAG3, DNAJB6 and ZASP genes as well as other as yet unidentified genes. Previous studies have reported changes in mitochondrial morphology and cellular positioning, as well as clonally-expanded, large-scale mitochondrial DNA (mtDNA) deletions and focal respiratory chain deficiency in muscle of MFM patients...
October 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27600735/universal-cervical-length-screening-for-preterm-birth-prevention-in-the-united-states
#20
Adeeb Khalifeh, Johanna Quist-Nelson, Vincenzo Berghella
OBJECTIVE: To evaluate the incidence of implementation of universal cervical length (CL) screening for preterm birth (PTB) prevention among institutions with Maternal-Fetal Medicine (MFM) fellowship training in the United states. METHODS: In January 2015, we conducted a national survey of institutions with MFM Fellowship Programs regarding implementation of universal CL screening, defined as CL screening of women with singleton gestations without a prior spontaneous PTB...
September 7, 2016: Journal of Maternal-fetal & Neonatal Medicine
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