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(maternally inherited diabetes and deafness)
195 results
  • THE ROLE OF HETEROPLASMY IN THE DIAGNOSIS AND MANAGEMENT OF MATERNALLY INHERITED DIABETES AND DEAFNESS. [Review]
    Endocr Pract. 2020 Feb; 26(2):241-246.Robinson KN, Terrazas S, … Xavier NA
  • CONCLUSIONS: The heteroplasmic inheritance of mutated mtDNA plays an important role in the clinical manifestations of various mitochondrial diseases, specifically MIDD. This review will alert endocrinologists of the signs and symptoms of MIDD and important clinical considerations when managing this disease. Abbreviations: ATP = adenosine triphosphate; CoQ10 = coenzyme Q10; MELAS = mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MIDD = maternally inherited diabetes and deafness; mtDNA = mitochondrial DNA; tRNA = transfer ribonucleic acid; ROS = reactive oxygen species; T2DM = type 2 diabetes mellitus.
  • Audiological and Vestibular Findings in Subjects with MELAS Syndrome. [Journal Article]
    J Int Adv Otol. 2019 Aug; 15(2):296-303.Hougaard DD, Hestoy DH, … Petersen MB
  • CONCLUSIONS: Our study population had pathological findings from every audiological and vestibular end organs. The results indicated that the pathological findings originated from within the end organs themselves and not within the superior and inferior vestibular or cochlear nerve.
  • Mitochondrial Disorder: Maternally Inherited Diabetes and Deafness. [Review]
    Adv Exp Med Biol. 2018; 1085:163-165.Tsang 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. [Case Reports]
    BMC Nephrol. 2018 12 10; 19(1):350.Sugai 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 02; 95(2):455-466.Johnson 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 Sep 25; 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 Sep; 33(5):437-440.Finsterer 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. 2020 Jun; 45(4):356-361.Finsterer 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.
  • Family Phenotypic Heterogeneity Caused by Mitochondrial DNA Mutation A3243G. [Case Reports]
    Acta Med Port. 2017 Aug 31; 30(7-8):581-585.Alves D, Calmeiro ME, … Silva R
  • Maternally inherited diabetes and deafness is a rare form of diabetes caused by a mitochondrial DNA mutation. The index case is a 55-year-old woman who was admitted with hypertrophic cardiomyopathy. She had a history of diabetes mellitus and hearing loss. The patient's mother, two brothers and two sisters also had a history of diabetes and hearing loss. This pattern suggests a maternally inherite…
  • Diabetes, deafness and renal disease. [Journal Article]
    Clin Kidney J. 2017 Aug; 10(4):487-489.Godinho I, Gameiro J, … Gomes da Costa A
  • Deafness, kidney disease and diabetes are not a usual association, neither is a family history of these diseases. We present the case of a 47-year-old woman with non-nephrotic proteinuria, no haematuria, normal renal function, sensorineural hearing loss, recently diagnosed diabetes and maculopathy. There was a maternal family history of deafness, diabetes and renal disease. Renal biopsy revealed …
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