keyword
MENU ▼
Read by QxMD icon Read
search

Dystrophy genetic

keyword
https://www.readbyqxmd.com/read/29129153/skin-biopsy-for-diagnosis-of-ullrich-congenital-muscular-dystrophy-an-observational-study
#1
Biswaroop Chakrabarty, M C Sharma, Sheffali Gulati, Chitra Sarkar
The gold standard diagnostic test for Ullrich congenital muscular dystrophy (UCMD) is molecular testing for COL6 mutation. The facility for genetic testing is sparingly available and it is usually diagnosed by muscle biopsy. The latter is an invasive procedure requiring expertise and sedation. Skin biopsy has shown promise as a simpler diagnostic modality. Eleven and 7 cases, respectively, of phenotypically suspected Ullrich congenital muscular dystrophy and dystrophinopathy underwent simultaneous skin and muscle biopsies, which were subjected to hematoxylin and eosin (H&E) and immunohistochemistry staining for collagen VI and dystrophin 1, 2, and 3...
December 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/29127258/homozygous-mutation-in-cep19-a-gene-mutated-in-morbid-obesity-in-bardet-biedl-syndrome-with-predominant-postaxial-polydactyly
#2
Esra Yıldız Bölükbaşı, Sara Mumtaz, Muhammad Afzal, Ute Woehlbier, Sajid Malik, Aslıhan Tolun
BACKGROUND: Bardet-Biedl syndrome (BBS) is a ciliopathy with extensive phenotypic variability and genetic heterogeneity. We aimed to discover the gene mutated in a consanguineous kindred with multiple cases of a BBS phenotype. METHODS: SNP genotype data were used for linkage analysis and exome sequencing to identify mutations. Modelling and in silico analysis were performed to predict mutation severity. RESULTS: Patients had postaxial polydactyly plus variable other clinical features including rod-cone dystrophy, obesity, intellectual disability, renal malformation, developmental delay, dental anomalies, speech disorder and enlarged fatty liver...
November 10, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29125504/clinical-outcomes-in-duchenne-muscular-dystrophy-a-study-of-5345-patients-from-the-treat-nmd-dmd-global-database
#3
Zaïda Koeks, Catherine L Bladen, David Salgado, Erik van Zwet, Oksana Pogoryelova, Grace McMacken, Soledad Monges, Maria Foncuberta, Kyriaki Kekou, Konstantina Kosma, Hugh Dawkins, Leanne Lamont, Matthew I Bellgard, Anna J Roy, Teodora Chamova, Velina Guergueltcheva, Sophelia Chan, Lawrence Korngut, Craig Campbell, Yi Dai, Jen Wang, Nina Barišić, Petr Brabec, Jaana Lähdetie, Maggie C Walter, Olivia Schreiber-Katz, Veronika Karcagi, Marta Garami, Agnes Herczegfalvi, Venkatarman Viswanathan, Farhad Bayat, Filippo Buccella, Alessandra Ferlini, En Kimura, Janneke C van den Bergen, Miriam Rodrigues, Richard Roxburgh, Anna Lusakowska, Anna Kostera-Pruszczyk, Rosário Santos, Elena Neagu, Svetlana Artemieva, Vedrana Milic Rasic, Dina Vojinovic, Manuel Posada, Clemens Bloetzer, Andrea Klein, Jordi Díaz-Manera, Eduard Gallardo, A Ayşe Karaduman, Tunca Oznur, Haluk Topaloğlu, Rasha El Sherif, Angela Stringer, Andriy V Shatillo, Ann S Martin, Holly L Peay, Jan Kirschner, Kevin M Flanigan, Volker Straub, Kate Bushby, Christophe Béroud, Jan J Verschuuren, Hanns Lochmüller
BACKGROUND: Recent short-term clinical trials in patients with Duchenne Muscular Dystrophy (DMD) have indicated greater disease variability in terms of progression than expected. In addition, as average life-expectancy increases, reliable data is required on clinical progression in the older DMD population. OBJECTIVE: To determine the effects of corticosteroids on major clinical outcomes of DMD in a large multinational cohort of genetically confirmed DMD patients...
November 10, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29123500/efficacy-and-the-safety-of-granulocyte-colony-stimulating-factor-treatment-in-patients-with-muscular-dystrophy-a-non-randomized-clinical-trial
#4
Dorota Sienkiewicz, Wojciech Kułak, Bożena Okurowska-Zawada, Grażyna Paszko-Patej, Janusz Wojtkowski, Karolina Sochoń, Anna Kalinowska, Kamila Okulczyk, Jerzy Sienkiewicz, Edward McEachern
Introduction: The current standard treatment for patients with Duchenne muscular dystrophy (DMD) involves corticosteroids. Granulocyte colony-stimulating factor (G-CSF) induces the proliferation of satellite cells and myoblasts and, in turn, muscle regeneration. Beneficial effects of G-CSF were also described for skeletal muscle disorders. Aim: We assessed the safety and effects of using G-CSF to promote muscle strength in patients with DMD. Materials and methods: Inclusion criteria were as follows: patients aged 5-15 years with diagnosed with DMD confirmed by genetic test or biopsy...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/29122926/defect-in-phosphoinositide-signalling-through-a-homozygous-variant-in-plcb3-causes-a-new-form-of-spondylometaphyseal-dysplasia-with-corneal-dystrophy
#5
Salma Ben-Salem, Sarah M Robbins, Nara Lm Sobreira, Angeline Lyon, Aisha M Al-Shamsi, Barira K Islam, Nadia A Akawi, Anne John, Pramathan Thachillath, Sania Al Hamed, David Valle, Bassam R Ali, Lihadh Al-Gazali
BACKGROUND: Bone dysplasias are a large group of disorders affecting the growth and structure of the skeletal system. METHODS: In the present study, we report the clinical and molecular delineation of a new form of syndromic autosomal recessive spondylometaphyseal dysplasia (SMD) in two Emirati first cousins. They displayed postnatal growth deficiency causing profound limb shortening with proximal and distal segments involvement, narrow chest, radiological abnormalities involving the spine, pelvis and metaphyses, corneal clouding and intellectual disability...
November 9, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29121498/cardiac-involvement-in-myotonic-dystrophy-the-role-of-troponins-and-n-terminal-pro-b-type-natriuretic-peptide
#6
Rea Valaperta, Claudia De Siena, Rosanna Cardani, Fortunata Lombardia, Edina Cenko, Benedetta Rampoldi, Barbara Fossati, Elisa Brigonzi, Roberta Rigolini, Paola Gaia, Giovanni Meola, Elena Costa, Raffaele Bugiardini
BACKGROUND AND AIMS: Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are dominant inherited muscular dystrophies with multiple systemic involvement, often producing cardiac injury. This study sought to determine the clinical significance of elevated high sensitivity cardiac troponin T and I (hs-cTnT and hs-cTnI), and N-terminal pro B-type natriuretic peptide (NT-pro-BNP) in this population. METHODS: Sixty DM patients (35 men and 25 women; mean age: 45.1 years, range: 12-73 years) underwent clinical cardiac investigations and measurements of serum hs-cTnT, hs-cTnI, creatine kinase (CK), and NT-proBNP...
October 21, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/29120066/a-novel-nonsense-variant-in-reep6-is-involved-in-a-sporadic-rod-cone-dystrophy-case
#7
C Méjécase, S Mohand-Saïd, S El Shamieh, A Antonio, C Condroyer, S Blanchard, M Letexier, J-P Saraiva, J-A Sahel, I Audo, C Zeitz
Rod-cone dystrophy (RCD), also called retinitis pigmentosa, is the most common form of progressive inherited retinal disorders secondary to photoreceptor degeneration. It is a genetically heterogeneous disease characterized by night blindness, followed by visual field constriction and, in most severe cases, total blindness. The aim of our study was to identify the underlying gene defect leading to severe RCD in a 60-year-old woman. The patient's DNA was investigated by targeted next generation sequencing followed by whole exome sequencing...
November 9, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29115605/genetic-variations-in-bestrophin%C3%A2-1-and-associated-clinical-findings-in-two-chinese-patients-with-juvenile%C3%A2-onset-and-adult%C3%A2-onset-best-vitelliform-macular-dystrophy
#8
Ying Lin, Tao Li, Chenghong Ma, Hongbin Gao, Chuan Chen, Yi Zhu, Bingqian Liu, Yu Lian, Ying Huang, Haichun Li, Qingxiu Wu, Xiaoling Liang, Chenjin Jin, Xinhua Huang, Jianhua Ye, Lin Lu
Best vitelliform macular dystrophy (BVMD) is a hereditary retinal disease characterized by the bilateral accumulation of large egg yolk‑like lesions in the sub‑retinal and sub‑retinal pigment epithelium spaces. Macular degeneration in BVMD can begin in childhood or adulthood. The variation in the age of onset is not clearly understood. The present study characterized the clinical characteristics of two Chinese patients with either juvenile‑onset BVMD or adult‑onset BVMD and investigated the underlying genetic variations...
October 27, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29112784/clinical-and-genetic-features-of-patients-with-facial-sparing-facioscapulohumeral-muscular-dystrophy
#9
J-J He, X-D Lin, F Lin, G-R Xu, L-Q Xu, W Hu, D-N Wang, H-X Lin, M-T Lin, N Wang, Z-Q Wang
BACKGROUND AND PURPOSE: Facial-sparing scapular myopathy (SHD) is the most common atypical form of facioscapulohumeral muscular dystrophy (FSHD), clinically defined as those without apparent facial muscle weakness on neurologic examination. The clinical profiles and genetic features of SHD are limited. METHODS: A cohort of 21 Chinese patients with SHD were confirmed by PFGE-based molecular genetic analysis. The clinical assessments and methylation analysis were noted...
November 7, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29102430/involvement-of-pelvic-girdle-and-proximal-leg-muscles-in-early-oculopharyngeal-muscular-dystrophy
#10
B M van der Sluijs, S Lassche, G J Knuiman, B Kusters, A Heerschap, M Hopman, T H Schreuder, B G M van Engelen, N C Voermans
Although limb girdle weakness is not part of the major diagnostic criteria of oculopharyngeal muscular dystrophy (OPMD), it has frequently been observed in the Dutch and other OPMD cohorts. In the Dutch cohort, this might be related to the relatively old age or the severity of the genetic defect. This patient-control study (14 OPMD patients and 12 controls) investigated the involvement of limb girdle muscles with a multidimensional approach in early OPMD. We assessed functional abilities, disease impact, physical activity, muscle strength, histopathology and fatty infiltration using questionnaires, actometer, functional tests, manual and quantitative muscle testing, muscle biopsy and muscle MRI...
September 28, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29097191/molecular-genetics-and-emerging-therapies-for-retinitis-pigmentosa-basic-research-and-clinical-perspectives
#11
REVIEW
Marina França Dias, Kwangsic Joo, Jessica A Kemp, Silvia Ligório Fialho, Armando da Silva Cunha, Se Joon Woo, Young Jik Kwon
Retinitis Pigmentosa (RP) is a hereditary retinopathy that affects about 2.5 million people worldwide. It is characterized with progressive loss of rods and cones and causes severe visual dysfunction and eventual blindness in bilateral eyes. In addition to more than 3000 genetic mutations from about 70 genes, a wide genetic overlap with other types of retinal dystrophies has been reported with RP. This diversity of genetic pathophysiology makes treatment extremely challenging. Although therapeutic attempts have been made using various pharmacologic agents (neurotrophic factors, antioxidants, and anti-apoptotic agents), most are not targeted to the fundamental cause of RP, and their clinical efficacy has not been clearly proven...
October 31, 2017: Progress in Retinal and Eye Research
https://www.readbyqxmd.com/read/29090033/first-report-of-pachyonychia-congenita-type-pc-k6a-in-the-romanian-population
#12
Anca Chiriac, Cristina Rusu, Alina Murgu, Anca E Chiriac, Neil J Wilson, Frances J D Smith
Pachyonychia congenita (PC) is a rare autosomal dominant skin disorder, with unknown prevalence, although it is estimated there are between 2,000 and 10,000 cases of PC worldwide. The International PC Research Registry (IPCRR) has currently identified (as of November 2016) 746 individuals (in 403 families) with genetically confirmed PC. Heterozygous mutations, predominantly missense mutations, in any one of five keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17 cause PC. The predominant clinical findings include plantar keratoderma, plantar pain and variable dystrophy of some or all toenails and/ or fingernails...
June 2017: Mædica
https://www.readbyqxmd.com/read/29081423/muscular-dystrophy-with-ribitol-phosphate-deficiency-a-novel-post-translational-mechanism-in-dystroglycanopathy
#13
Motoi Kanagawa, Tatsushi Toda
Muscular dystrophy is a group of genetic disorders characterized by progressive muscle weakness. In the early 2000s, a new classification of muscular dystrophy, dystroglycanopathy, was established. Dystroglycanopathy often associates with abnormalities in the central nervous system. Currently, at least eighteen genes have been identified that are responsible for dystroglycanopathy, and despite its genetic heterogeneity, its common biochemical feature is abnormal glycosylation of alpha-dystroglycan. Abnormal glycosylation of alpha-dystroglycan reduces its binding activities to ligand proteins, including laminins...
October 24, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29077501/management-of-plantar-keratodermaslessons-from-pachyonychia-congenita
#14
Rebecca M Porter, Albert A Bravo, Frances J D Smith
Plantar keratodermas can arise due to a variety of genetically inherited mutations. The need to distinguish between different plantar keratoderma disorders is becoming increasingly apparent because there is evidence that they do not respond identically to treatment. Diagnosis can be aided by observation of other clinical manifestations, such as palmar keratoderma, more widespread hyperkeratosis of the epidermis, hair and nail dystrophies, or erythroderma. However, there are frequent cases of plantar keratoderma that occur in isolation...
September 2017: Journal of the American Podiatric Medical Association
https://www.readbyqxmd.com/read/29074561/assessment-of-the-incorporation-of-cnv-surveillance-into-gene-panel-next-generation-sequencing-testing-for-inherited-retinal-diseases
#15
Jamie M Ellingford, Bradley Horn, Christopher Campbell, Gavin Arno, Stephanie Barton, Catriona Tate, Sanjeev Bhaskar, Panagiotis I Sergouniotis, Rachel L Taylor, Keren J Carss, Lucy F L Raymond, Michel Michaelides, Simon C Ramsden, Andrew R Webster, Graeme C M Black
BACKGROUND: Diagnostic use of gene panel next-generation sequencing (NGS) techniques is commonplace for individuals with inherited retinal dystrophies (IRDs), a highly genetically heterogeneous group of disorders. However, these techniques have often failed to capture the complete spectrum of genomic variation causing IRD, including CNVs. This study assessed the applicability of introducing CNV surveillance into first-tier diagnostic gene panel NGS services for IRD. METHODS: Three read-depth algorithms were applied to gene panel NGS data sets for 550 referred individuals, and informatics strategies used for quality assurance and CNV filtering...
October 26, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29074494/phenotypic-diversity-in-autosomal-dominant-cone-rod-dystrophy-elucidated-by-adaptive-optics-retinal-imaging
#16
Hongxin Song, Ethan A Rossi, Edwin Stone, Lisa Latchney, David Williams, Alfredo Dubra, Mina Chung
PURPOSE: Several genes causing autosomal-dominant cone-rod dystrophy (AD-CRD) have been identified. However, the mechanisms by which genetic mutations lead to cellular loss in human disease remain poorly understood. Here we combine genotyping with high-resolution adaptive optics retinal imaging to elucidate the retinal phenotype at a cellular level in patients with AD-CRD harbouring a defect in the GUCA1A gene. METHODS: Nine affected members of a four-generation AD-CRD pedigree and three unaffected first-degree relatives underwent clinical examinations including visual acuity, fundus examination, Goldmann perimetry, spectral domain optical coherence tomography and electroretinography...
October 26, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/29071374/wagner-syndrome-anatomic-functional-and-genetic-characterization-of-a-portuguese-family
#17
Joana R Araújo, João Tavares-Ferreira, Sérgio Estrela-Silva, Paulo Rocha, Elisete Brandão, Pedro Alves Faria, Fernando Falcão-Reis, Amândio Rocha-Sousa
PURPOSE: To report the clinical (anatomic and functional) and genetic findings of Wagner Syndrome (WS) in a Portuguese family. METHODS: Nine members of the family agreed to be examined. All had complete clinical eye examinations. The proband and selected patients underwent color fundus photography, spectral domain optical coherence tomography (SD-OCT), automatic static white-on-white computerized perimetry, and electrophysiology assessment (flash ERG, multifocal(mf) ERG and dark adaptometry)...
October 25, 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/29070057/next-generation-mapping-a-novel-approach-for-detection-of-pathogenic-structural-variants-with-a-potential-utility-in-clinical-diagnosis
#18
Hayk Barseghyan, Wilson Tang, Richard T Wang, Miguel Almalvez, Eva Segura, Matthew S Bramble, Allen Lipson, Emilie D Douine, Hane Lee, Emmanuèle C Délot, Stanley F Nelson, Eric Vilain
BACKGROUND: Massively parallel DNA sequencing, such as exome sequencing, has become a routine clinical procedure to identify pathogenic variants responsible for a patient's phenotype. Exome sequencing has the capability of reliably identifying inherited and de novo single-nucleotide variants, small insertions, and deletions. However, due to the use of 100-300-bp fragment reads, this platform is not well powered to sensitively identify moderate to large structural variants (SV), such as insertions, deletions, inversions, and translocations...
October 25, 2017: Genome Medicine
https://www.readbyqxmd.com/read/29068549/expanding-the-genetic-architecture-and-phenotypic-spectrum-in-the-skeletal-ciliopathies
#19
Wenjuan Zhang, S Paige Taylor, Hayley A Ennis, Kimberly N Forlenza, Ivan Duran, Bing Li, Jorge A Ortiz Sanchez, Lisette Nevarez, Deborah A Nickerson, Michael Bamshad, Ralph S Lachman, Deborah Krakow, Daniel H Cohn
Defects in the biosynthesis and/or function of primary cilia cause a spectrum of disorders collectively referred to as ciliopathies. A subset of these disorders is distinguished by profound abnormalities of the skeleton that include a long narrow chest with markedly short ribs, extremely short limbs, and polydactyly. These include the perinatal lethal short-rib polydactyly syndromes (SRPS) and the less severe asphyxiating thoracic dystrophy (ATD), Ellis van Creveld (EVC) syndrome and cranioectodermal dysplasia (CED) phenotypes...
October 25, 2017: Human Mutation
https://www.readbyqxmd.com/read/29068140/a-founder-mutation-in-cerkl-is-a-major-cause-of-retinal-dystrophy-in-finland
#20
Kristiina Avela, Eeva-Marja Sankila, Sanna Seitsonen, Liina Kuuluvainen, Stephanie Barton, Stuart Gillies, Kristiina Aittomäki
PURPOSE: To study the genetic aetiology of retinal dystrophies (RD) in Finnish patients. METHODS: A targeted next-generation sequencing (NGS) panel of 105 retinal dystrophy genes was used in a cohort of 55 RD patients. RESULTS: The overall diagnostic yield was 60% demonstrating the power of this approach. Interestingly, a missense mutation c.375C>G p.(Cys125Trp) in the CERKL gene was found in 18% of the patients in either a homozygous or compound heterozygous state...
October 25, 2017: Acta Ophthalmologica
keyword
keyword
101924
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"