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(maternally inherited diabetes and deafness)
180 results
  • Mitochondrial Disorder: Maternally Inherited Diabetes and Deafness. [Review]
    Adv Exp Med Biol 2018; 1085:163-165Tsang SH, Aycinena ARP, Sharma T
  • Patients with maternally inherited diabetes and deafness (MIDD) have insulin-dependent diabetes with relatively low BMI; usually the onset of the diabetes is during the third or fourth decade of life and it is associated with progressive neurosensory deafness. The fundus shows circumferentially oriented but discontinuous patches of RPE and choriocapillaris (CC) atrophy around the macula, within t…
  • Maternally inherited diabetes and deafness complicated by mesangial galactose-deficient IgA1 deposits: a case report. [Journal Article]
    BMC Nephrol 2018; 19(1):350Sugai K, Ueda H, … Yokoo T
  • CONCLUSIONS: We rediscovered the usefulness of GSECs as a pathologically distinctive feature of mitochondrial nephropathy and reviewed the literature regarding MIDD complicated by mesangial IgA deposition. Furthermore, we demonstrate that the mesangial IgA deposits in this patient consisted of the galactose-deficient IgA1 variant. The monoclonal antibody (KM55) might be a useful tool to distinguish IgAN from latent IgA deposits.
  • mTOR inhibitors may benefit kidney transplant recipients with mitochondrial diseases. [Journal Article]
    Kidney Int 2019; 95(2):455-466Johnson SC, Martinez F, … Canaud G
  • Mitochondrial diseases represent a significant clinical challenge. Substantial efforts have been devoted to identifying therapeutic strategies for mitochondrial disorders, but effective interventions have remained elusive. Recently, we reported attenuation of disease in a mouse model of the human mitochondrial disease Leigh syndrome through pharmacological inhibition of the mechanistic target of …
  • Mitochondrial disease: an uncommon but important cause of diabetes mellitus [Journal Article]
    Endocrinol Diabetes Metab Case Rep 2018; 2018Yee ML, Wong R, … Gilfillan C
  • Mitochondrial diseases are rare, heterogeneous conditions affecting organs dependent on high aerobic metabolism. Presenting symptoms and signs vary depending on the mutation and mutant protein load. Diabetes mellitus is the most common endocrinopathy, and recognition of these patients is important due to its impact on management and screening of family members. In particular, glycemic management …
  • The Tip of the Iceberg in Maternally Inherited Diabetes and Deafness. [Case Reports]
    Oman Med J 2018; 33(5):437-440Finsterer J, Frank M
  • Maternally inherited diabetes and deafness (MIDD) is not only a disorder of the pancreas and ears but a multisystem mitochondrial disorder syndrome. Hypogonadism, however, has not been reported as a phenotypic feature of MIDD. We report a single case of a patient with MIDD which manifested clinically at 41 years old. In addition to diabetes and deafness, he manifested with seizures, ataxia, myopa…
  • The heart in m.3243A>G carriers. [Review]
    Herz 2018Finsterer J, Zarrouk-Mahjoub S
  • CONCLUSIONS: Cardiac involvement in m.3243A>G carriers has been only rarely systematically studied, which is perhaps why the incidence of cardiac diseases in MELAS is lower than would be expected. Myocardial abnormalities are much more frequent than arrhythmias or conduction defects. All symptomatic and asymptomatic m.3243A>G carriers should be systematically investigated for cardiac disease.
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