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365 Possible Causes for Mutations in the Cystinosis Gene, P Pulmonale, 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] Probably as a result of more successful treatment of classic bacterial infections in CF, there are now increasing problems with multi-resistant isolates of P. aeruginosa and[patient.info] , 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
  • Pulmonary Emphysema

    Peaked P waves in the inferior leads 2.5 mm (P pulmonale) with a rightward P-wave axis (inverted in aVL) Clockwise rotation of the heart with a delayed R/S transition point[lifeinthefastlane.com] With development of cor pulmonale, the following additional changes are seen: Right atrial enlargement (P pulmonale) Right ventricular hypertrophy 3.[lifeinthefastlane.com] Related Topics Right axis deviation Low voltage QRS complexes Right atrial enlargement (P pulmonale) Right ventricular hypertrophy Right bundle branch block References Harrigan[lifeinthefastlane.com]

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

    […] in the limb leads or 10 mm in the precordial leads right ventricular hypertrophy right axis deviation dominant R wave in V1 with an amplitude 7mm often associated with "P[radiopaedia.org] pulmonale, an electrocardiographic finding.[ncbi.nlm.nih.gov] Edema in cor pulmonale. Lancet 1975 ; ii: 1289 – 1290. Google Scholar 27 Richens JM Howard P. Oedema in cor pulmonale. Clin Sci 1982 ; 62: 255 – 259.[doi.org]

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

    In ECG, P pulmonale was observed in 58 (99.66%) of cases. 48 (80%) were having right ventricular dilatation and right atrial dilation was observed in 30 (50%) of patients.[scopemed.org] Tall tented p-pulmonale may also be seen. 3) Echocardiography may show dilatation and also allows indirect measurement of pulmonary artery pressures.[myvmc.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: P Pulmonale
  • Pulmonary Embolism

    Electrocardiographic findings ACS ( n 198) APE ( n 81) TC ( n 21) p value P pulmonale (%) 8 (4) 10 (12) 0 0.014 Right axis deviation (%) 0 6 (7) 0 Left axis deviation (%)[ncbi.nlm.nih.gov] pulmonale, right-axis deviation, ST-segment elevation, ST-segment depression, QT prolongation, and incomplete or complete right bundle-branch block. 30, 93 – 110 Of these,[doi.org] "Acute cor pulmonale resulting from pulmonary embolism". J Am Med Assoc. 104 (17): 1473–80. doi:10.1001/jama.1935.02760170011004.[en.wikipedia.org]

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

    Article Navigation Timothy I. Morgenthaler, MD 1 Mayo Clinic Sleep Disorders Center, Rochester, MN 2 Division of Pulmonary and Critical Care Medicine, Mayo Clinic, Rochester, MN * Address correspondence to: Timothy I. Morgenthaler, MD, Mayo Clinic Sleep Disorders Center, Division of Pulmonary and Critical Care Medicine, 200[…][doi.org]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Obstructive Sleep Apnea

    Adult patients with mild to severe obstructive sleep apnea (OSA) can be successfully treated with submucosal radiofrequency tongue base ablation.(Powell 1999 and refs below) The majority of studies demonstrating effectiveness of tongue base submucosal radiofrequency ablation (RFA) have been performed in[…][web.archive.org]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Acute Cor Pulmonale

    Peaked P waves in the inferior leads 2.5 mm (P pulmonale) with a rightward P-wave axis (inverted in aVL) Clockwise rotation of the heart with a delayed R/S transition point[lifeinthefastlane.com] Tall tented p-pulmonale may also be seen. 3) Echocardiography may show dilatation and also allows indirect measurement of pulmonary artery pressures.[myvmc.com] […] due to left heart disease Electrocardiography : right axis deviation due to right ventricular hypertrophy Incomplete or complete right bundle branch block In some cases, P[amboss.com]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Acute Massive Pulmonary Embolism

    pulmonale - RBBB CXR: rules out other pathology, focal oligaemia, wedge density (pulmonary infarction) ABG: reduced PaO2 in keeping with size of PE, metabolic acidosis with[lifeinthefastlane.com] "Acute cor pulmonale resulting from pulmonary embolism". J Am Med Assoc. 104 (17): 1473–80. doi : 10.1001/jama.1935.02760170011004.[en.wikipedia.org] […] tachycardia - SI, QIII, TIII - non specific ST changes or TWI in anterior leads (right heart strain), - right axis deviation - s wave (I and aVL) 1.5mm - Q wave in III and aVF - p[lifeinthefastlane.com]

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