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239 Possible Causes for Male Infertility due to Globozoospermia, Mutations in the Cystinosis Gene, 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
  • 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: Male Infertility due to Globozoospermia
  • Anemia

    INTRODUCTION Table 1 Etiopathogenic classification of anemia. Regenerative anemia Acute or chronic bleeding Hemolytic anemia Hereditary (hemoglobinopathy, enzymopathy, membrane-cytoskeletal defects) Acquired (autoimmune, mechanical destruction, toxic-metabolic, drugs, infectious, PNH, hypersplenism) Hypo-regenerative[…][dx.doi.org]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Sexually Transmitted Disease

    BACKGROUND: We examined the infrastructure for US public sexually transmitted disease (STD) clinical services. METHODS: In 2013 to 2014, we surveyed 331 of 1225 local health departments (LHDs) who either reported providing STD testing/treatment in the 2010 National Profile of Local Health Departments survey or[…][ncbi.nlm.nih.gov]

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

    NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health. Office of the Surgeon General (US); National Institute on Alcohol Abuse and Alcoholism (US); Substance Abuse and Mental Health Services Administration (US). The Surgeon General's Call to Action To Prevent and Reduce[…][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
  • Gonorrhea

    Gonorrhea is the most prevalent communicable disease in the United States and the incidence of anorectal involvement is high. Anorectal gonorrhea may be clinically elusive making the radiologic findings crucial in suggesting the diagnosis. Edematous rectal mucosa with limited distensibility and small ulcerations are the[…][ncbi.nlm.nih.gov]

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

    Int J STD AIDS. 2011 Jul;22(7):361-5. doi: 10.1258/ijsa.2011.011023. Author information 1 Princess Royal Community Health Centre, Huddersfield, UK. Emma.Street@cht.nhs.uk Abstract The BASHH UK guideline for the management of epididymo-orchitis has been updated in 2010. Consideration should be made of the changing[…][ncbi.nlm.nih.gov]

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

    Klinefelter syndrome is a genetic disorder associated with male hypogonadism, gynecomastia and reduced fertility. Other symptoms include erectile dysfunction, osteoporosis, language and learning impairment and behavioral problems. Hypogonadism gynecomastia and infertility are the most common symptoms that suggest a[…][symptoma.com]

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

    OBJECTIVE: The treatment of hyperthyroidism associated with severe liver dysfunction (LD) is a clinical challenge, and there has been no unified examination of this problem. The objective of this study was to assess the efficacy and safety of radioiodine ( 131 I) in combination with a molecular adsorbent[…][ncbi.nlm.nih.gov]

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