Create issue ticket

579 Possible Causes for Mutations in the Cystinosis Gene, Patient Appears Chronically Ill, Subsarcolemmal Accumulation of Normal Mitochondria

  • Cystic Fibrosis

    This effect has subsequently been demonstrated in a number of models of other diseases caused by stop mutations, including muscular dystrophy, 15 Hurler's syndrome, 16 cystinosis[doi.org] , 17 late infantile neuronal ceroid lipofuscinosis, 18 and disorders involving the p53 gene. 19 In a previous open pilot study, we found that topical application of gentamicin[doi.org]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Degenerative Disorder

    […] encoding an integral membrane protein is mutated in nephropathic cystinosis.[doi.org] Article PubMed Google Scholar Town M, Jean G, Cherqui S, Attard M, Forestier L, Whitmore SA, Callen DF, Gribouval O, Broyer M, Bates GP, van't Hoff W, Antignac C: A novel gene[doi.org]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Substance Abuse Problems

    Abstract Hospital-wide rumors and anecdotal reports had suggested that there was a potentially serious problem of alcohol and drug abuse among the psychiatric patients of this hospital. The authors describe a systematic, evaluative approach which gave direct and detailed information on the nature and extent of[…][ncbi.nlm.nih.gov]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Chronic Alcoholism

    The concept of "structural plasticity" has emerged as a potential mechanism in neurodegenerative and psychiatric diseases such as drug abuse, depression, and dementia. Chronic alcoholism is a progressive neurodegenerative disease while the person continues to abuse alcohol, though clinical and imaging studies show[…][ncbi.nlm.nih.gov]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Iron Deficiency Anemia

    A 19-month-old girl with a history of asthma and atopic dermatitis presented to her pediatrician because of parental concerns of pallor and fatigue. On dietary history, it was discovered that she was a picky eater and consumed 26 oz of homogenous milk daily. Her physical examination was unremarkable aside from[…][ncbi.nlm.nih.gov]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Diabetes Mellitus

    BACKGROUND: Type 2 Diabetes Mellitus is a serious metabolic disease that is often associated with vascular complications. There are 1.9 million people living with Diabetes in Ethiopia; diabetes mellitus is found to be the ninth leading cause of death related to its complications. Although the rate of vascular[…][ncbi.nlm.nih.gov]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Chronic Obstructive Pulmonary Disease

    We report two cases of perioperative rehabilitation for abdominal cancer patients aged 75 years and older with severe chronic obstructive pulmonary disease (COPD). Case 1 was a 75-year-old man with COPD and 52-year history of smoking 30 cigarettes per day. The patient was diagnosed with gastric cancer and[…][ncbi.nlm.nih.gov]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Chronic Fatigue Syndrome

    Consistently reported risk factors for poor prognosis are older age, more chronic illness, having a comorbid psychiatric disorder and holding a belief that the illness is[ncbi.nlm.nih.gov] Chronic fatigue syndrome (CFS), also referred to as chronic fatigue immune deficiency syndrome, is a disabling illness characterized by persistent fatigue accompanied by rheumatologic[aafp.org] As the definition becomes more stringent the prognosis appears to worsen.[ncbi.nlm.nih.gov]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Chronic Kidney Insufficiency

    Chronic kidney insufficiency affects a significant number of individuals in the developed countries, particularly the United States. The progressive nature of the disease and a substantial reduction in the quality of life over the period of time are the primary reasons why an early diagnosis is crucial. Anemia,[…][symptoma.com]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Juvenile Cystinosis

    […] and intermyofibrillar accumulation of mitochondria in muscles ( mitochondria stain red).[amboss.com] Genatlas disease for CTNS Gene cystinosis,infantile,nephropathic type Additional Disease Information for CTNS A novel gene encoding an integral membrane protein is mutated[genecards.org] Abstract Purpose In this report, we document the CTNS gene mutations of 28 Iranian patients with nephropathic cystinosis age 1–17 years.[revistanefrologia.com]

    Missing: Patient Appears Chronically Ill