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944 Possible Causes for Heat Intolerance, Mutations in the Cystinosis Gene, Subsarcolemmal Accumulation of Normal Mitochondria

  • Juvenile Cystinosis

    intolerance Left untreated, renal failure develops by age 7-10 years Signs and symptoms of late-onset (intermediate) nephropathic cystinosis include the following: More indolent[emedicine.medscape.com] […] 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]

  • Cystinosis

    intolerance Left untreated, renal failure develops by age 7-10 years Signs and symptoms of late-onset (intermediate) nephropathic cystinosis include the following: More indolent[emedicine.com] Patients with less severe cystinosis gene mutations tend to have better kidney outcome.[cjasn.asnjournals.org] mutations of the cystinosis gene ( CTNS ).[emedicine.medscape.com]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Cystic Fibrosis

    High-flow, heated, humidified air via nasal cannula treats CPAP-intolerant children with obstructive sleep apnea. J Clin Sleep Med 2017 ;13: 981 – 989.[doi.org] 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
  • Menopause

    Minerva Ginecol. 2018 Feb;70(1):27-34. doi: 10.23736/S0026-4784.17.04151-X. Epub 2017 Oct 3. Gambacciani M 1, Biglia N 2, Cagnacci A 3, Caruso S 4, Cicinelli E 5, DE Leo V 6, DI Carlo C 7, Farris M 8, Gambera A 9, Guaschino S 10, Lanzone A 11, Paoletti AM 12, Russo N 13, Vicariotto F 14, Villa P 11, Volpe A 15 ; Italian Menopause[…][ncbi.nlm.nih.gov]

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

    intolerance Excessive sweating or not being able to sweat Bowel, bladder or digestive problems Changes in blood pressure, causing dizziness or lightheadedness Peripheral[mayoclinic.org] Heat intolerance. Loss of bladder control. Drop in blood pressure when shifting from a seated to standing position, known as orthostatic hypotension.[honorhealth.com] intolerance Loss of bladder control, leading to infection or incontinence Dizziness, lightheadednes, or fainting because of a loss of control over blood pressure Diarrhea[stlouischildrens.org]

    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
  • Third Trimester Pregnancy

    The concomitant phenomenon of a third trimester pregnancy with a significant degree of pelvic organ prolapse is extremely rare. We report on a patient with pelvic organ prolapse complicating third trimester pregnancy treated by concomitant cesarean hysterectomy and abdominal sacrocolpopexy. A 30-year-old woman,[…][ncbi.nlm.nih.gov]

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

    Morbid obesity is associated with liver pathology, most commonly non-alcoholic steatohepatitis (NASH) leading to cirrhosis. However, the morbid obesity impedes qualification for organ transplantation. We present a case report of a 56-year-old woman who underwent bariatric procedure followed by liver transplantation[…][ncbi.nlm.nih.gov]

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

    intolerance.[symptoma.com] Last year, he developed clinical symptoms of hyperthyroidism with a fast heartbeat, heat intolerance and weight loss.[ncbi.nlm.nih.gov] They may include Being nervous or irritable Mood swings Fatigue or muscle weakness Heat intolerance Trouble sleeping Hand tremors Rapid and irregular heartbeat Frequent bowel[nlm.nih.gov]

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

    The symptoms depend upon what organs are affected and may include abdominal swelling, heat intolerance, nausea, vomiting, impotence, diarrhea, constipation, dizziness with[medicinenet.com] Symptoms of Autonomic Neuropathy General symptoms of this condition may include: Inability to sweat properly, leading to heat intolerance Loss of bladder control, leading[stanfordhealthcare.org] intolerance brought on with activity and exercise Sexual problems, including erection problems in men and vaginal dryness and orgasm difficulties in women Small pupil in[nlm.nih.gov]

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

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