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5,503 Possible Causes for (autosomal, 1, cone, dominant), dystrophy, ROD

Did you mean: (autosomal, 1, coma, dominant), dystrophy, ROD

  • Liver Cirrhosis

    Park SM 1 , Kim YJ 1 , Kim SM 1 , Han N 1 , Lee EJ 1 , Kim TK 1 , Kim TN 1 , Kwon MJ 2 , Kim MK 1 , Lee SH 1 , Park JH 1 , Rhee BD 1 , Kim BM 3 , Lee SJ 4 .[ncbi.nlm.nih.gov] Abstract Alström syndrome is a rare autosomal recessive genetic disorder characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance and[ncbi.nlm.nih.gov] Deposits were typically IgA dominant/codominant. Our aim was to further elucidate the etiology, diagnostic pitfalls, and clinical outcomes.[ncbi.nlm.nih.gov] OBJECTIVE: Though the liver is frequently affected in myotonic dystrophy type 1 and 2 (DM1, DM2), non-alcoholic and non-hepatitic liver cirrhosis have not been reported as[ncbi.nlm.nih.gov] RATIONALE: Progressive familial intrahepatic cholestasis (PFIC) type 3, characterized by high gamma glutamyl transferase (GGT), is an autosomal recessive genetic disease.[ncbi.nlm.nih.gov] Autosomal recessive disorder of decreased levels of the enzyme alpha 1—antitrypsin. [15] Cardiac cirrhosis .[en.wikipedia.org]

  • Autosomal Dominant Optic Atrophy

    Optic atrophy type 1 is estimated to affect 1 in 35,000 people worldwide. This condition is more common in Denmark, where it affects approximately 1 in 10,000 people.[ghr.nlm.nih.gov] Such variation is a recognized feature of autosomal dominant inheritance and is the basis for suggesting that there is probably only one genetic locus for autosomal dominant[ncbi.nlm.nih.gov] In addition to routine ophthalmological tests, full-field ERGs including the rod response, mixed rod-cone response, oscillatory potentials (OPs), single-flash cone response[ncbi.nlm.nih.gov] Houlden has received research support from the Medical Research Council (MRC) UK, the BRT, the MDA USA, Muscular Dystrophy UK, Ataxia UK, Muscular Dystrophy UK, Rosetrees[ng.neurology.org] In 11 patients, long (L) and short (S) wavelength-sensitive cone temporal acuities were measured as a function of target illuminance, and L-cone temporal contrast sensitivity[ncbi.nlm.nih.gov] […] blue background, and full-field brief (300 μs) xenon flash ERGs using a red filter over a continuous rod saturating blue background.[ncbi.nlm.nih.gov]

  • Williams Syndrome

    RESULTS: There were 11 boys and 1 girl in the aggregate series.[ncbi.nlm.nih.gov] INTRODUCTION: Williams syndrome (WS), an autosomal dominant condition linked to gene deletions on chromosome 7, can cause supravalvular aortic narrowing and death.[ncbi.nlm.nih.gov] These findings suggest another dominant PNH disorder along chromosome 7q11.23. Copyright 2006 Wiley-Liss, Inc.[ncbi.nlm.nih.gov] PURPOSE: To describe a case of rod-cone dystrophy associated with Williams syndrome. METHODS: This is an observational case report. The medical history was assessed.[ncbi.nlm.nih.gov] Williams syndrome is an autosomal dominant disorder.[encyclopedia.com] Although Williams syndrome is considered an autosomal dominant condition, most cases are not inherited, but occur as random events during the formation of reproductive cells[diseaseinfosearch.org]

  • Deferoxamine

    We sought to examine the effect of iron chelation on cerebrovascular function in healthy aging and to explore whether hypoxia-inducible transcription factor-1 activation may[ncbi.nlm.nih.gov] Carattere Scientifico (IRCCS) Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milano, Italy. [email protected] Abstract Juvenile hemochromatosis (JH) is a rare autosomal[ncbi.nlm.nih.gov] Calculated incremental cost-effectiveness ratio showed that DSX is a dominant therapy and its estimated lifetime net monetary benefit was Int273,528.[ncbi.nlm.nih.gov] KEYWORDS: Deferoxamine; Drug toxicity; Pattern dystrophy; Thalassemia[ncbi.nlm.nih.gov] DEFENSES AND INFECTIOUS COMPLICATIONS IN MAINTENANCE HEMODIALYSIS PATIENTS 865 DIALYSIS ASSOCIATED HEPATITIS 881 DIALYSIS IN THE ACQUIRED IMMUNODEFICIENCY SYNDROME 904 44 RENAL[books.google.com] Follow-up examinations during a 40-month period revealed progressive development of RPE atrophy in areas of pattern dystrophy-like changes.[ncbi.nlm.nih.gov]

  • Limb-Girdle Muscular Dystrophy

    CONCLUSIONS: Taken together, our data demonstrate that levels of miR-1, miR-133a, and miR-206 in serum of BMD and miR-1 in sera of LGMD and FSHD patients showed no significant[ncbi.nlm.nih.gov] INTRODUCTION: Two families with autosomal dominant limb girdle muscular dystrophy (LGMD) have previously been linked to a locus on chromosome 7q36 10 years ago.[ncbi.nlm.nih.gov] Cardiac arrhythmias are mostly seen in LGMD 1B and 1E types of muscle dystrophy.[symptoma.com] Here, we characterized a family with early onset cone-rod dystrophy (CRD) and muscular dystrophy.[ncbi.nlm.nih.gov] In a female patient with a long duration of symptoms (46 years), muscle biopsy showed, in addition to telethonin deficiency, the presence of nemaline rods, type 1 fiber predominance[ncbi.nlm.nih.gov] Mutations in actin and nebulin cause the congenital myopathy nemaline rod myopathy, and the mutations in myosin cause familial hypertrophic cardiomyopathy.[emedicine.medscape.com]

  • Spinal Muscular Atrophy

    Author information 1 Department of Pediatric Neurology, Federal University of Paraná, Curitiba, Paraná, Brazil. [email protected] Abstract Neurofibromatosis type 1, or[ncbi.nlm.nih.gov] INTRODUCTION: Heterozygous BICD2 gene mutations cause a form of autosomal dominant spinal muscular atrophy with lower extremity predominance (SMALED).[ncbi.nlm.nih.gov] Three other missense mutations in DYNC1H1 were also identified in families with dominant spinal muscular atrophy with lower extremity predominance.[ncbi.nlm.nih.gov] Our data suggest a novel disease mechanism for SMA involving formation of actin rods as a molecular sink for a cleaved PlexinD1 fragment leading to dysregulation of receptor[ncbi.nlm.nih.gov] Neuromuscular disorders like myotonic dystrophy (dystrophia myotonica or Steinert's disease) and spinal muscular atrophy are associated with perioperative complications related[ncbi.nlm.nih.gov] These children were treated using transforaminal thecal access employing cone-beam CT with navigational overlay.[ncbi.nlm.nih.gov]

  • Microcornea

    Figure 2 Genetic mutation in the fibrillin-1 gene results in the deletion of the entire carboxy-terminal domain.[jamanetwork.com] Abstract A Sicilian family is reported in which 36 individuals, in 5 successive generations, were affected with congenital cataracts, microcornea and myopia with an autosomal[ncbi.nlm.nih.gov] METHODS: A three-generation Chinese family with members having autosomal dominant cataract and microcornea was recruited.[ncbi.nlm.nih.gov] Affected individuals had bilateral microcornea, pulverulent-like lens opacities, a rod-cone dystrophy and posterior staphyloma (MRCS).[ncbi.nlm.nih.gov] PURPOSE: To present the detailed phenotype of a subject with MRCS (microcornea, retinal dystrophy, cataract, and posterior staphyloma) syndrome and to investigate the underlying[ncbi.nlm.nih.gov] Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome .[research.manchester.ac.uk]

  • Obesity

    […] and mitogenic properties of ET-1.[ncbi.nlm.nih.gov] Amongst the 10 genes encompassed by the deletion, the haploinsufficiency of Optic Atrophy 1 (OPA1), associated with autosomal dominant optic atrophy, is likely responsible[ncbi.nlm.nih.gov] KEYWORDS: Cerebral palsy; Muscular dystrophy; Musculoskeletal; Obesity; Spina bifida[ncbi.nlm.nih.gov] Other clinical signs and symptoms of BBS are: polydactyly, hypertension, hyperlipidemia, hypogonadotrophic hypogonadism, intellectual disability, rod-cone dystrophy, genitourinary[ncbi.nlm.nih.gov] Bretault M 1 , Laroche S 1 , Lacorte JM 2, 3, 4 , Barsamian C 1 , Polak M 5 , Raffin-Sanson ML 6 , Touraine P 7 , Bouillot JL 8 , Czernichow S 1, 9 , Carette C 10 .[ncbi.nlm.nih.gov] […] function and cGP/IGF-1 ratio determines IGF-1 bioactivity in vitro and in vivo.[ncbi.nlm.nih.gov]

  • Osteoporosis

    BACKGROUND: Insulin-like growth factor-1 (IGF-1) plays an important role in the regulation of bone formation and mineralization.[ncbi.nlm.nih.gov] The main features of this autosomal inherited disease are ocular, auditory with orofacial abnormalities and early-onset osteoarthritis.[ncbi.nlm.nih.gov] Thus, we provide further evidence of bone phenotypes beyond those typically associated with SATB2-associated syndrome in individuals with potential dominant-negative SATB2[ncbi.nlm.nih.gov] Abstract Duchenne muscular dystrophy (DMD) is an X-linked recessive muscle disease characterized by secondary osteoporosis and increased fractures.[ncbi.nlm.nih.gov] KEYWORDS: Chronic kidney disease; biomarkers; bone mineral density; dialysis; fractures; histomorphometry; imaging; osteoporosis; renal osteodystrophy[ncbi.nlm.nih.gov] Furthermore, end-stage renal disease (ESRD), hypercalciuria, congestive heart failure, chronic obstructive lung disease, Parkinson's disease, muscular dystrophies, or injury[symptoma.com]

    Missing: cone
  • Progressive Cone Dystrophy

    ., 1 fig.[osti.gov] COD can be inherited as an autosomal dominant (adCOD) [ 3 ], autosomal recessive (arCOD) [ 4 ], or X-linked trait (xlCOD) [ 5 ], although it occurs sporadically in most cases[molvis.org] Abstract Psychophysical, reflectometric, and electrophysiological studies were performed on four members of a dominant pedigree with progressive cone dystrophy.[ncbi.nlm.nih.gov] METHODS: Local cone system function was assessed by measuring cone system thresholds (visual fields) and cone-mediated multifocal electroretinograms (mfERGs).[ncbi.nlm.nih.gov] Abstract A 33-year-old woman had keratoconus and retinal cone dystrophy, an association that has not been reported previously.[ncbi.nlm.nih.gov] Abstract Psychophysical, reflectometric, and electrophysiologic studies were done on four members of a dominant pedigree with progressive cone dystrophy.[ncbi.nlm.nih.gov]