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https://www.readbyqxmd.com/read/28944732/patient-centered-drug-approval-the-role-of-patient-advocacy-in-the-drug-approval-process
#1
T Joseph Mattingly, Linda Simoni-Wastila
Recent approval of eteplirsen for Duchenne muscular dystrophy (DMD), a rare disease with few treatment alternatives, has reignited the debate over the U.S. drug approval process. The evolution of legal and regulatory restrictions to the marketing and sale of pharmaceuticals has spanned more than a century, and throughout this history, patient advocacy has played a significant role. Scientific evidence from clinical trials serves as the foundation for drug approval, but the patient voice has become increasingly influential...
October 2017: Journal of Managed Care & Specialty Pharmacy
https://www.readbyqxmd.com/read/28944582/myopenia-and-precision-p4-medicine
#2
EDITORIAL
John E Morley, Stefan D Anker
Precision (P4) medicine represents a new medical paradigm that focuses on Personalized, Predictive, Preventive and Participatory approaches. The P4 paradigm is particularly appropriate for moving the care of persons with myopenia forward. Muscular dystrophies are clearly a set of genetically different diseases where genomics are the basis of diagnosis, and genetic modulation via DNA, oligonucleotides and clustered regularly interspaced short palendronic repeats hold great potential for a cure. The utility of personalized genomics for sarcopenia coupled with utilizing a predictive approach for the diagnosis with early preventive strategies is a key to improving sarcopenic outcomes...
September 24, 2017: Journal of Cachexia, Sarcopenia and Muscle
https://www.readbyqxmd.com/read/28943641/corrigendum-genetic-diagnosis-of-duchenne-becker-muscular-dystrophy-using-next-generation-sequencing-validation-analysis-of-dmd-mutations
#3
Mariko Okubo, Narihiro Minami, Kanako Goto, Yuichi Goto, Satoru Noguchi, Satomi Mitsuhashi, Ichizo Nishino
This corrects the article DOI: 10.1038/jhg.2016.7.
October 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28942489/molecular-genetic-and-clinical-characterization-of-myotonic-dystrophy-type-1-patients-carrying-variant-repeats-within-dmpk-expansions
#4
Jovan Pešović, S Perić, M Brkušanin, G Brajušković, V Rakočević-Stojanović, Dušanka Savić-Pavićević
Myotonic dystrophy type 1 (DM1) is caused by a highly unstable expansion of CTG repeats in the DMPK gene. Its huge phenotypic variability cannot be explained solely by the repeat number. Recently, variant repeats within the DMPK expansions have emerged as potential disease modifiers. The frequency of variant expanded alleles was estimated in 242 DM1 patients from 174 Serbian families using repeat-primed PCR (RP-PCR). The patterns of variant repeats were determined by direct sequencing of RP-PCR or PCR products...
September 23, 2017: Neurogenetics
https://www.readbyqxmd.com/read/28942269/echocardiographic-strain-analysis-for-the-early-detection-of-myocardial-structural-abnormality-and-initiation-of-drug-therapy-in-a-mouse-model-of-dilated-cardiomyopathy
#5
Minjuan Zheng, Feng Pan, Ying Liu, Zhenzhou Li, Xiaodong Zhou, Xin Meng, Liwen Liu, Shuping Ge
This study aimed to evaluate the role of echocardiography-based strain analysis in the early diagnosis and guidance for management of dilated cardiomyopathy (DCM). Muscular dystrophy mice (which spontaneously develop DCM) and control (C57 BL/6 J) mice were sequentially evaluated by ultrasound biomicroscopy, conventional left ventricle (LV) measurement, two-dimensional (2-D) strain analysis and myocardial histologic analysis for 12 consecutive months. Significant alternation of LV remodeling and dysfunction could be detected by conventional echocardiography after 9 mo, by strain analysis after 5 mo and by histologic analysis after 4 mo...
September 20, 2017: Ultrasound in Medicine & Biology
https://www.readbyqxmd.com/read/28941524/juvenile-macular-degenerations
#6
Pablo Altschwager, Lucia Ambrosio, Emily A Swanson, Anne Moskowitz, Anne B Fulton
In this article, we review the following 3 common juvenile macular degenerations: Stargardt disease, X-linked retinoschisis, and Best vitelliform macular dystrophy. These are inherited disorders that typically present during childhood, when vision is still developing. They are sufficiently common that they should be included in the differential diagnosis of visual loss in pediatric patients. Diagnosis is secured by a combination of clinical findings, optical coherence tomography imaging, and genetic testing...
May 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28940338/inpp5k-variant-causes-autosomal-recessive-congenital-cataract-in-a-pakistani-family
#7
S Yousaf, S A Sheikh, S Riazuddin, A M Waryah, Z M Ahmed
Congenital cataract (CC) is clinically and genetically highly heterogeneous. Here, we enrolled a consanguineous kindred (LUCC15) from Pakistan, with three affected individuals suffering with CC. Exome sequencing revealed a transition mutation [c.149T>C; p.(Ile50Thr)] in INPP5K. Inositol polyphosphate-5-phosphatase K, encoded by INPP5K, is involved in dephosphorylation of phosphatidylinositol (PtdIns) 4,5-bisphosphate, and PtdIns 3,4,5-trisphosphate. Recently, pathogenic variants in INPP5K have been reported in families with congenital muscular dystrophies, intellectual disability, and cataract...
September 22, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28940116/a-comparative-study-deep-anterior-lamellar-keratoplasty-for-corneal-dystrophies-using-two-different-donor-stromal-tissues
#8
Yusuf Koçluk, Emine Alyamaç Sukgen
PURPOSE: This study aimed to present a comparison of early postoperative results of deep anterior lamellar keratoplasty (DALK) surgery performed using the two different corneal graft sources. MATERIALS AND METHODS: This retrospective clinical study included the surgery performed on 26 eyes of 26 patients who underwent DALK for the stromal dystrophies. At the time of surgery, donor stromal tissue for DALK was sourced using the two different preparatory techniques...
September 22, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/28939808/novel-pathogenic-mutations-in-c1qtnf5-support-a-dominant-negative-disease-mechanism-in-late-onset-retinal-degeneration
#9
Chloe M Stanton, Shyamanga Borooah, Camilla Drake, Joseph A Marsh, Susan Campbell, Alan Lennon, Dinesh C Soares, Neeru A Vallabh, Jayashree Sahni, Artur V Cideciyan, Baljean Dhillon, Veronique Vitart, Samuel G Jacobson, Alan F Wright, Caroline Hayward
Late-onset retinal degeneration (L-ORD) is a rare autosomal dominant retinal dystrophy, characterised by extensive sub-retinal pigment epithelium (RPE) deposits, RPE atrophy, choroidal neovascularisation and photoreceptor cell death associated with severe visual loss. L-ORD shows striking phenotypic similarities to age-related macular degeneration (AMD), a common and genetically complex disorder, which can lead to misdiagnosis in the early stages. To date, a single missense mutation (S163R) in the C1QTNF5 gene, encoding C1q And Tumor Necrosis Factor Related Protein 5 (C1QTNF5) has been shown to cause L-ORD in a subset of affected families...
September 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28939680/mobilizing-transit-amplifying-cell-derived-ectopic-progenitors-prevents-hair-loss-from-chemotherapy-or-radiation-therapy
#10
Wen-Yen Huang, Shih-Fan Lai, Hsien-Yi Chiu, Michael Chang, Maksim Plikus, Chih-Chieh Chan, You-Tzung Chen, Po-Nien Tsao, Tsung-Lin Yang, Hsuan-Shu Lee, Peter Chi, Sung-Jan Lin
Genotoxicity-induced hair loss from chemotherapy and radiotherapy is often encountered in cancer treatment, and there is a lack of effective treatment. In growing hair follicles (HF), quiescent stem cells (SC) are maintained in the bulge region and hair bulbs at the base contain rapidly dividing, yet genotoxicity-sensitive transit-amplifying cells (TAC) that maintain hair growth. How genotoxicity-induced HF injury is repaired remains unclear. We report here that HF mobilize ectopic progenitors from distinct TAC compartments for regeneration in adaptation to the severity of dystrophy induced by ionizing radiation (IR)...
September 22, 2017: Cancer Research
https://www.readbyqxmd.com/read/28939592/%C3%AE-ketoglutarate-prevents-skeletal-muscle-protein-degradation-and-muscle-atrophy-through-phd3-adrb2-pathway
#11
Xingcai Cai, Yexian Yuan, Zhengrui Liao, Kongping Xing, Canjun Zhu, Yaqiong Xu, Lulu Yu, Lina Wang, Songbo Wang, Xiaotong Zhu, Ping Gao, Yongliang Zhang, Qingyan Jiang, Pingwen Xu, Gang Shu
Skeletal muscle atrophy due to excessive protein degradation is the main cause for muscle dysfunction, fatigue, and weakening of athletic ability. Endurance exercise is effective to attenuate muscle atrophy, but the underlying mechanism has not been fully investigated. α-Ketoglutarate (AKG) is a key intermediate of tricarboxylic acid cycle, which is generated during endurance exercise. Here, we demonstrated that AKG effectively attenuated corticosterone-induced protein degradation and rescued the muscle atrophy and dysfunction in a Duchenne muscular dystrophy mouse model...
September 22, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28939561/effects-of-a-titin-mutation-on-negative-work-during-stretch-shortening-cycles-in-skeletal-muscles
#12
Anthony L Hessel, Kiisa C Nishikawa
Negative work occurs in muscles during braking movements such as downhill walking or landing after a jump. When performing negative work during stretch-shortening cycles, viscoelastic structures within muscles store energy during stretch, return a fraction of this energy during shortening, and dissipate the remaining energy as heat. Because tendons and extracellular matrix are relatively elastic rather than viscoelastic, energy is mainly dissipated by cross bridges and titin. Recent studies demonstrate that titin stiffness increases in active skeletal muscles, suggesting that titin contributions to negative work may have been underestimated in previous studies...
September 22, 2017: Journal of Experimental Biology
https://www.readbyqxmd.com/read/28938379/dark-endothelial-spots-after-descemet-membrane-endothelial-keratoplasty-may-appear-as-recurrent-fuchs-dystrophy-or-herald-graft-failure-or-rejection
#13
Vasiliki Zygoura, Lamis Baydoun, Claire Monnereau, Maria Satué, Silke Oellerich, Gerrit R J Melles
PURPOSE: To evaluate the clinical significance of dark spots in the donor endothelial cell layer as observed with specular microscopy, in patients who underwent Descemet membrane endothelial keratoplasty (DMEK) for Fuchs endothelial dystrophy (FED). METHODS: Specular microscopy images of 83 consecutive eyes up to 7 years after DMEK were retrospectively reviewed in a masked fashion for the presence of dark spots and morphologic changes in the endothelial cell layer and processed for endothelial cell density (ECD) measurements...
September 21, 2017: Cornea
https://www.readbyqxmd.com/read/28937416/a-novel-entity-of-corneal-diseases-with-irregular-posterior-corneal-surface-concept-and-clinical-relevance
#14
Takefumi Yamaguchi, Eisuke Shimizu, Yukari Yagi-Yaguchi, Daisuke Tomida, Yoshiyuki Satake, Jun Shimazaki
Various corneal diseases, such as hereditary corneal dystrophies, corneal infection, and bullous keratopathy, cause corneal opacity, scarring, and edema, leading to severely decreased visual acuity and loss of vision. These diseases were regarded as corneal opacity diseases, and the decreased visual acuity was considered to be predominantly caused by corneal opacity. The influence of corneal irregular astigmatism on vision has been poorly understood to date, mainly because accurate quantification of irregular astigmatism has been technically challenging...
September 19, 2017: Cornea
https://www.readbyqxmd.com/read/28937030/a-de-novo-mutation-in-dystrophin-causing-muscular-dystrophy-in-a-female-patient
#15
Hao Yu, Yu-Chao Chen, Gong-Lu Liu, Zhi-Ying Wu
BACKGROUND: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive neuromuscular diseases resulting from dystrophin (DMD) gene mutations. It has been known that the carrier of DMD mutations may also have symptoms of the disease. While de novo mutation is quite common in BMD/DMD patients, it is rarely reported in the female carriers. METHODS: Two sporadic Chinese patients with progressive muscular dystrophy and their familial members were recruited...
October 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28935672/the-dux4-homeodomains-mediate-inhibition-of-myogenesis-and-are-functionally-exchangeable-with-the-pax7-homeodomain
#16
Darko Bosnakovski, Erik A Toso, Lynn M Hartweck, Alessandro Magli, Heather A Lee, Eliza R Thompson, Abhijit Dandapat, Rita C R Perlingeiro, Michael Kyba
Facioscapulohumeral muscular dystrophy (FSHD) is caused by inappropriate expression of the double homeodomain protein, DUX4. DUX4 has bimodal effects, inhibiting myogenic differentiation and blocking MyoD at low levels of expression, and killing myoblasts at high levels. Pax3 and Pax7, which contain related homeodomains, antagonize the cell death phenotype of DUX4 in C2C12 cells, suggesting some type of competitive interaction. Here, we show that effects on differentiation and MyoD expression require the homeodomains but do not require the C-terminal activation domain of DUX4...
September 21, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/28935143/vitamin-e-treatment-decreases-muscle-injury-in-mdx-mice
#17
Rafael Dias Mâncio, Túlio de Almeida Hermes, Aline Barbosa Macedo, Daniela Sayuri Mizobuti, Amanda Harduim Valduga, Ian Feller Rupcic, Elaine Minatel
OBJECTIVE: Oxidative stress, in addition to the absence of the dystrophin protein, has been considered an important regulator of Duchenne muscular dystrophy (DMD). Vitamin E presents an important role as a potent antioxidant and in preserving the integrity of the cell membrane. In this study, we evaluated the effects of vitamin E therapy on some physiological pathways that can contribute to muscle injury in the diaphragm muscle of mdx mice (the experimental model of DMD) such as CK levels, inflammatory response, oxidative stress, and the enzymatic antioxidant system...
November 2017: Nutrition
https://www.readbyqxmd.com/read/28934248/vps35-deficiency-impairs-slc4a11-trafficking-and-promotes-corneal-dystrophy
#18
Wei Liu, Fu-Lei Tang, Sen Lin, Kai Zhao, Lin Mei, Jian Ye, Wen-Cheng Xiong
Vps35 (vacuolar protein sorting 35) is a major component of retromer that selectively promotes endosome-to-Golgi retrieval of transmembrane proteins. Dysfunction of retromer is a risk factor for the pathogenesis of Parkinson's disease (PD) and Alzheimer's disease (AD). However, Vps35/retromer's function in the eye or the contribution of Vps35-deficiency to eye degenerative disorders remains to be explored. Here we provide evidence for a critical role of Vps35 in mouse corneal dystrophy. Vps35 is expressed in mouse and human cornea...
2017: PloS One
https://www.readbyqxmd.com/read/28933017/present-uses-future-applications-and-technical-underpinnings-of-electrical-impedance-myography
#19
REVIEW
Benjamin Sanchez, Seward B Rutkove
PURPOSE OF REVIEW: In this article, we provide an overview of electrical impedance myography (EIM), including its technical and theoretical basis, a summary of its varied applications, and ongoing developments. RECENT FINDINGS: EIM has been used as a disease severity biomarker in a variety of disorders affecting the muscle, ranging from amyotrophic lateral sclerosis (ALS) to muscular dystrophies to disuse atrophy due to the weightlessness of space. In ALS, studies have demonstrated that major reductions in sample size in clinical trials can be achieved...
September 20, 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28932937/foxn1-deficiency-from-the-discovery-to-novel-therapeutic-approaches
#20
REVIEW
Vera Gallo, Emilia Cirillo, Giuliana Giardino, Claudio Pignata
Since the discovery of FOXN1 deficiency, the human counterpart of the nude mouse, a growing body of evidence investigating the role of FOXN1 in thymus and skin, has been published. FOXN1 has emerged as fundamental for thymus development, function, and homeostasis, representing the master regulator of thymic epithelial and T cell development. In the skin, it also plays a pivotal role in keratinocytes and hair follicle cell differentiation, although the underlying molecular mechanisms still remain to be fully elucidated...
September 21, 2017: Journal of Clinical Immunology
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