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5,187 Possible Causes for (disorder), 12, CONE ROD, DYSTROPHY

Did you mean: (disorder), 12, CONE, ROD, DYSTROPHY

  • Osteoporosis

    OBJECTIVE: To investigate the effect of a 12-month complex balance-training programme on static and dynamic postural balance, aerobic capacity and frequency of falls in women[ncbi.nlm.nih.gov] KEYWORDS: Chronic kidney disease; biomarkers; bone mineral density; dialysis; fractures; histomorphometry; imaging; osteoporosis; renal osteodystrophy[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] However, it was unclear whether patients with post-traumatic stress disorder (PTSD) were at risk of developing osteoporosis in later life.[ncbi.nlm.nih.gov]

  • Williams Syndrome

    BACKGROUND: The purpose of the study was to describe sensorimotor profile and visual perceptual performance in school-aged (6-12 years) children with Williams syndrome (WS[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] To our knowledge, this is the first case report on the coexistence of WS and Asperger's disorder.[ncbi.nlm.nih.gov] Paediatr Anaesth. 2015 Dec;25(12):1207-15. doi: 10.1111/pan.12775. Epub 2015 Oct 12.[ncbi.nlm.nih.gov]

  • Limb-Girdle Muscular Dystrophy

    Magri F 1 , Nigro V 2, 3 , Angelini C 4 , Mongini T 5 , Mora M 6 , Moroni I 7 , Toscano A 8 , D'angelo MG 9 , Tomelleri G 10 , Siciliano G 11 , Ricci G 11 , Bruno C 12 , Corti[ncbi.nlm.nih.gov] Here, we characterized a family with early onset cone-rod dystrophy (CRD) and muscular dystrophy.[ncbi.nlm.nih.gov] Abstract Emery-Dreifuss muscular dystrophy (EDMD) and limb-girdle muscular dystrophy type 1B (LGMD1B) are characterized by cardiac dysrhythmias, late-onset cardiomyopathy,[ncbi.nlm.nih.gov] Additionally, many atypical laminopathies have been described combining features of two or more of the distinctive disorders or syndromes associated with LMNA mutations.[ncbi.nlm.nih.gov]

  • Deferoxamine

    Significant iron excretion occurred in all three patients for 12 hours during the SC infusion of DF and for 12 hours after the end of the infusion.[ncbi.nlm.nih.gov] Both patients had normal cone and rod responses in the full-field electroretinogram and continued the prescribed chelation therapy, after hematology consult.[ncbi.nlm.nih.gov] The diagnosis of a familial disorder, neonatal hemochromatosis, was made, and therapy was attempted with deferoxamine.[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]

  • Retinal Detachment

    Month 12 after a reattachment of macula-off RRD following vitrectomy.[ncbi.nlm.nih.gov] The outer layer - the retinal pigment epithelium (RPE) - is a layer of cells behind the rods and cones. The RPE helps to nourish and support the rods and cones.[patient.info] Abstract Two eyes of 2 patients with macular hole-associated retinal detachment in clinically diagnosed vitelliruptive stage of Best vitelliform dystrophy were surgically[ncbi.nlm.nih.gov] Retinal Detachment and Other Vitreoretinal Disorders What is Retinal Detachment?[weillcornelleye.org]

  • Retinal Dystrophy

    , Mahajan VB 12 , Pfeifer W 7 , Weckmann M 13 , Johnson C 12 , Gewaily D 14 , Drack A 12 , Stone E 15 , Wachtel K 3 , Simonelli F 16 , Leroy BP 17 , Wright JF 3 , High KA[ncbi.nlm.nih.gov] Re: Cone Rod Retinal Dystrophy Posted by kamshar20 on 5/12/2016 at 10:21 AM My son 9 years old has been diagnosed rod cone dystrophy when he was 5 years old.[afb.org] KEYWORDS: CRB1; retinal capillaritis; retinal dystrophy; retinitis pigmentosa; uveitis[ncbi.nlm.nih.gov] Importance Steroid 5α-reductase type 3 congenital disorder of glycosylation (SRD5A3-CDG) is a rare disorder of N -linked glycosylation.[jamanetwork.com]

  • Liver Cirrhosis

    Lai CY 1, 2 , Cheng SB 3, 4 , Lee TY 5, 6 , Liu HT 7, 8 , Huang SC 9, 10 , Huang YC 11, 12 .[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] 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] So many digestive diseases and disorders have overlapping symptoms, or nuances that may be impossible for you to detect.[verywell.com]

  • CINCA Syndrome

    The clinical and genetic features of 12 unrelated Italian patients with CINCA syndrome are described, focusing on the possible influence of the presence of CIAS1/cryopyrin[ncbi.nlm.nih.gov] We report the cases of monozygotic twins with CINCA syndrome whose predominant ocular manifestation was inflammatory rod-cone retinal dystrophy.[ncbi.nlm.nih.gov] A state of severe retinal dystrophy of post-inflammatory origin became evident on funduscopy, optical coherence tomography and visual electrophysiology tests at the age of[ncbi.nlm.nih.gov] This primary systemic inflammatory disorder should be distinguished from juvenile rheumatoid arthritis (JRA).[ncbi.nlm.nih.gov]

  • Amblyopia

    Study follow-up visits were scheduled at 4, 8, 12, and 16 weeks. A modified intent-to-treat analysis was performed on participants who completed the 16-week trial.[ncbi.nlm.nih.gov] The full-field electroretinography was normal in the right eye, but rod response, cone response, and combined response were non-recordable, and 30-Hz response was very small[ncbi.nlm.nih.gov] We studied four consecutive children with posterior polymorphous dystrophy who had coexisting astigmatism.[ncbi.nlm.nih.gov] PURPOSE: To report the first case of amblyopia due to a conversion disorder in a child.[ncbi.nlm.nih.gov]

  • Progressive Cone Dystrophy

    Mol Vis. 2006; 12:1558-64. [PMID: 17200655][molvis.org] Cone-rod dystrophy results from a primary loss of cone photoreceptors, followed by loss of rods.[blindness.org] Abstract Psychophysical, reflectometric, and electrophysiological studies were performed on four members of a dominant pedigree with progressive cone dystrophy.[ncbi.nlm.nih.gov] Thus, the results of the segregation analyses as well as of the inbreeding analyses provide evidence that this previously unrecognized disorder is inherited as an autosomal[ncbi.nlm.nih.gov]