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878 Possible Causes for Dyspnea at Rest, 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: Dyspnea at Rest
  • Cystic Fibrosis

    The patient was admitted to our department with fever, cough, and dyspnea at rest unresponsive to antibiotics CONCLUSIONS: Late diagnosis of cystic fibrosis in uncommon.[ncbi.nlm.nih.gov] 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
  • Interventricular Septum Aneurysm

    Available from: A 16-year-old black boy presented with complaints of shortness of breath, dyspnea at rest during the last month.[heartviews.org] Full Text A 24-year-old black man presented to the emergency department of our hospital with fatigue and dyspnea at rest of two weeks duration.[elsevier.pt] Texto Completo A 24-year-old black man presented to the emergency department of our hospital with fatigue and dyspnea at rest of two weeks duration.[elsevier.pt]

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

    The author gives an account of the analysis of a young woman suffering from severe panic attacks. He describes the initial problems of the setting and how they are progressively overcome, the emergence of highly structured psychotic nuclei and the gradual approach to the patient's splits. Whereas the panic[…][ncbi.nlm.nih.gov]

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

    Noninvasive ventilation mainly works by improving alveolar ventilation, resting fatigued ventilatory muscles, relieving dyspnea, and improving gas exchange, while it avoids[ncbi.nlm.nih.gov] Table 2 Clinical and functional assessment of severe asthma exacerbations Variable Severe exacerbation Imminent respiratory arrest Symptoms Dyspnea At rest Speech Single words[ncbi.nlm.nih.gov]

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

    Public Health. Author manuscript; available in PMC 2010 May 5. Published in final edited form as: PMCID: PMC2864630 NIHMSID: NIHMS194821 The publisher's final edited version of this article is available at Public Health See other articles in PMC that cite the published article. Summary Background It is well known that[…][ncbi.nlm.nih.gov]

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

    The diagnosis of chronic obstructive pulmonary disease (COPD) should be suspected in patients with risk factors (primarily a history of smoking) who report dyspnea at rest[ncbi.nlm.nih.gov] Long-acting bronchodilators have recently been shown to reduce hyperinflation during both rest and exercise in moderate to severe COPD.[ncbi.nlm.nih.gov] The corollary of this is that any intervention that reduces end-expiratory lung volume will improve effort–displacement ratios and alleviate dyspnea.[doi.org]

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

    Spontaneous pneumothorax usually occurs at rest, and only 10% of cases occur during exercise4.[ncbi.nlm.nih.gov] The onset of symptoms for a spontaneous pneumothorax normally occurs at rest. A sudden attack of chest pain is often the first symptom.[healthline.com] In patients suffering PSP, the pain and dyspnea usually resolve within 24 hours, but patients experiencing SSP usually have more severe symptoms.[ncbi.nlm.nih.gov]

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

    These include, among others: Dyspnea ( exertional-, dyspnea at rest, orthopnea, paroxysmal nocturnal dyspnea); Fatigue, inadequate exhaustion after stress, weakness, lethargy[flexikon.doccheck.com]

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

    Normal tidal volumes range from 35-45% of vital capacity at rest.[unp.me] The elastic recoil of the chest wall resists hyperinflation of the lungs beyond that level, and inspiratory volumes beyond this level are perceived as effort or dyspnea.[unp.me]

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