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Tally Lerman Sagie - One of the best experts on this subject based on the ideXlab platform.
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MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked Mitochondrial Disorder
European Journal of Human Genetics, 2002Co-Authors: Esther Leshinsky-silver, Ami Zinger, Chaim N Bibi, Varda Barash, Menachem Sadeh, Tally Lerman SagieAbstract:MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly and Obesity) is an X-linked Disorder characterised by mental retardation, epileptic seizures, hypogenitalism, microcephaly and obesity. It was recently assigned to the locus Xp21.1-p22.13. We describe a child with MEHMO and lactic acidosis whose muscle biopsy revealed markedly reduced activities of complexes 1,3 and 4 of the Mitochondrial electron transport chain. Histological staining showed Mitochondrial proliferation and lipid storage. Electron microscopy revealed abnormal and enlarged mitochondria with concentric cristae and electron dense bodies. This is the first identification of MEHMO as a Mitochondrial Disorder and one of the very few X-linked Mitochondrial syndromes.
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MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked Mitochondrial Disorder
European Journal of Human Genetics, 2002Co-Authors: Esther Leshinsky-silver, Ami Zinger, Chaim N Bibi, Varda Barash, Menachem Sadeh, Dorit Lev, Tally Lerman SagieAbstract:MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly and Obesity) is an X-linked Disorder characterised by mental retardation, epileptic seizures, hypogenitalism, microcephaly and obesity. It was recently assigned to the locus Xp21.1-p22.13. We describe a child with MEHMO and lactic acidosis whose muscle biopsy revealed markedly reduced activities of complexes 1,3 and 4 of the Mitochondrial electron transport chain. Histological staining showed Mitochondrial proliferation and lipid storage. Electron microscopy revealed abnormal and enlarged mitochondria with concentric cristae and electron dense bodies. This is the first identification of MEHMO as a Mitochondrial Disorder and one of the very few X-linked Mitochondrial syndromes.
Esther Leshinsky-silver - One of the best experts on this subject based on the ideXlab platform.
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Should autistic children be evaluated for Mitochondrial Disorders
Journal of child neurology, 2004Co-Authors: Tally Lerman-sagie, Esther Leshinsky-silver, Nathan Watemberg, Dorit LevAbstract:Autism is etiologically heterogeneous; medical conditions are implicated in only a minority of cases, whereas metabolic Disorders are even less common. Recently, there have been articles describing the association of autism with Mitochondrial abnormalities. We critically review the current literature and conclude that Mitochondrial Disorders are probably a rare and insignificant cause of pure autism; however, evidence is accumulating that both autosomal recessive and maternally inherited Mitochondrial Disorders can present with autistic features. Most patients will present with multisystem abnormalities associated with autistic behavior. Finding biochemical or structural Mitochondrial abnormalities in an autistic child does not necessarily imply a primary Mitochondrial Disorder but can also be secondary to technical inaccuracies or another genetic Disorder. Clinicians should be careful in diagnosing a Mitochondrial Disorder in an autistic child because it has important implications for accurate genetic counseling, prognosis, and therapy.
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MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked Mitochondrial Disorder
European Journal of Human Genetics, 2002Co-Authors: Esther Leshinsky-silver, Ami Zinger, Chaim N Bibi, Varda Barash, Menachem Sadeh, Tally Lerman SagieAbstract:MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly and Obesity) is an X-linked Disorder characterised by mental retardation, epileptic seizures, hypogenitalism, microcephaly and obesity. It was recently assigned to the locus Xp21.1-p22.13. We describe a child with MEHMO and lactic acidosis whose muscle biopsy revealed markedly reduced activities of complexes 1,3 and 4 of the Mitochondrial electron transport chain. Histological staining showed Mitochondrial proliferation and lipid storage. Electron microscopy revealed abnormal and enlarged mitochondria with concentric cristae and electron dense bodies. This is the first identification of MEHMO as a Mitochondrial Disorder and one of the very few X-linked Mitochondrial syndromes.
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MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked Mitochondrial Disorder
European Journal of Human Genetics, 2002Co-Authors: Esther Leshinsky-silver, Ami Zinger, Chaim N Bibi, Varda Barash, Menachem Sadeh, Dorit Lev, Tally Lerman SagieAbstract:MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly and Obesity) is an X-linked Disorder characterised by mental retardation, epileptic seizures, hypogenitalism, microcephaly and obesity. It was recently assigned to the locus Xp21.1-p22.13. We describe a child with MEHMO and lactic acidosis whose muscle biopsy revealed markedly reduced activities of complexes 1,3 and 4 of the Mitochondrial electron transport chain. Histological staining showed Mitochondrial proliferation and lipid storage. Electron microscopy revealed abnormal and enlarged mitochondria with concentric cristae and electron dense bodies. This is the first identification of MEHMO as a Mitochondrial Disorder and one of the very few X-linked Mitochondrial syndromes.
Josef Finsterer - One of the best experts on this subject based on the ideXlab platform.
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evidence level for effectiveness of glucagon like peptide 1 receptor agonists respectively sodium glucose co transporter 2 inhibitors for Mitochondrial diabetes is low
Innovative Journal of Medical and Health Science, 2020Co-Authors: Josef Finsterer, Marlies FrankAbstract:We read with interest the article by Yeung et al. aboutthree patients with a multisystem Mitochondrial Disorder(MID) due to the variant m.3243A>G with heteroplasmyrates (HPRs) of 60% (patient-1), 30% (patient-2), and 10%(patient-3) in blood lymphocytes respectively who were successfullytreated for Mitochondrial diabetes (MTDM) withthe glucagon-like peptide-1 receptor agonist (GLP-1 RA)semaglutide (patient-1) respectively the sodium glucose cotransporter-2 inhibitor (SGLT-2i) empaglifozin (patient-2,patient-3) [1]. The authors concluded from this case seriesthat providers should be encouraged to prioritise GLP-1 RArespectively SGLT-2i for the treatment of MTDM [1]. Wehave the following comments and concerns.
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variant m 1555a g in mt rnr1 causes hearing loss and multiorgan Mitochondrial Disorder
Medicine, 2020Co-Authors: Josef FinstererAbstract:Background Mitochondrial Disorders (MIDs) are usually multisystem Disorders, affecting not only a single organ/tissue but also progressively more than one. Methods Letter to the Editor. Results Though phenotypic manifestations of the m.1555A>G mutation are usually mono-organic, there are indications that short stature, osteoporosis, arterial hypertension, and recurrent headache can be also a manifestation of this variant.MID patients with apparently single organ involvement need to be prospectively investigated for multisystem disease, as multisystem manifestations can be subtle or even subclinical.Concerning the phenotypic expression of the m.1555A>G variant it is crucial to know the heteroplasmy rates in various tissues, as they may strongly contribute to the phenotypic expression of the disease. Maternal transmission can be confirmed by running a basic local alignment search tool. Conclusions The m.1555A>G variant is not only associated with hearing loss but with a number of other multiorgan manifestations. Heteroplasmy rate are required for establishing a genotype/phenotype correlation.
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Mitochondrial Disorder mimicking rheumatoid disease
Zeitschrift für Rheumatologie, 2019Co-Authors: Josef Finsterer, Madleine Melichart-kotig, Adelheid WoehrerAbstract:Objective Mitochondrial Disorders (MIDs) may manifest phenotypically with a plethora of clinical features, but polyarthralgia and cutaneous lesions are still infrequently reported and recognized as phenotypic manifestations of a MID. Case report The patient is a 27-year-old Caucasian female with a history of preterm birth, symptomatic myopathy, and polyarthralgia since infancy, followed by multiple endocrinopathies including pituitary insufficiency, cardiac conduction defects, nephrolithiasis, aseptic chronic pancreatitis and sialadenitis, anemia, hyperlipidemia, and dysmorphic features. The patient reported to have profited from hydrocortisone and long-term chloroquine, but hardly from long-term immunosuppression with various immunosuppressants. The diagnosis MID was established upon the multiorgan nature of the disease, presence of core clinical features of a MID, and a muscle biopsy indicative of a Mitochondrial defect. The family history was positive for Mitochondrial features in the mother and grandmother from the mother’s side. Conclusion Seronegative and non-destructive polyarthralgia and unexplained cutaneous features mimicking cutaneous lupus should be considered as a phenotypic feature of a multisystem MID (Mitochondrial multiorgan Disorder syndrome, MIMODS). Mitochondrial metabolic defects may trigger secondary immune reactions. Core clinical features of a non-specific MID with infantile onset include symptomatic myopathy, endocrine abnormalities, cardiac conduction defects, dysmorphism, hyperlipidemia, anemia, and nephrolithiasis. Ziel Mitochondriale Erkrankungen („Mitochondrial Disorders“, MID) können sich phänotypisch mit einer Fülle klinischer Symptome manifestieren, aber Polyarthralgie und Hautläsionen sind bisher noch nicht häufig beschrieben und als phänotypische Manifestation einer MID eingestuft worden. Falldarstellung Bei der Patientin handelt es sich um eine 27-jährige Kaukasierin mit der Anamnese Frühgeburt, symptomatischer Myopathie und Polyarthralgie seit dem Säuglingsalter. Im weiteren Verlauf traten multiple Endokrinopathien einschließlich Hypophyseninsuffizienz auf, kardiale Erregungsleitungsstörungen, Nephrolithiasis, aseptische chronische Pankreatitis und Sialadenitis, Anämie, Hyperlipidämie und Dysmorphien. Die Patientin gab an, dass Hydrocortison und die Langzeittherapie mit Chloroquin geholfen hätten, kaum aber die Langzeitimmunsuppression mit verschiedenen Immunsuppressiva. Die Diagnose MID wurde aufgrund des Multiorganbefalls, des Vorliegens wesentlicher klinischer Merkmale einer MID und einer auf einen Mitochondriendefekt hinweisenden Muskelbiopsie gestellt. In der Familienanamnese bestanden Hinweise auf Merkmale einer MID bei der Mutter und der Großmutter mütterlicherseits. Schlussfolgerung Eine seronegative und nichtdestruierende Polyarthralgie sowie ungeklärte Hautveränderungen mit dem Bild eines kutanen Lupus sollten als phänotpyische Merkmale einer Multisystem-MID („Mitochondrial multiorgan Disorder syndrome“, MIMODS) aufgefasst werden. Mitochondriale Stoffwechseldefekte können sekundäre Immunreaktionen auslösen. Zu den wesentlichen klinischen Merkmalen eines MIMODS mit Beginn im Säuglingsalter gehören eine symptomatische Myopathie, endokrine Auffälligkeiten, kardiale Erregungsleitungsstörungen, Dysmorphismus, Hyperlipidämie, Anämie und Nephrolithiasis.
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Mitochondrial Disorder mimicking rheumatoid disease.
Zeitschrift fur Rheumatologie, 2018Co-Authors: Josef Finsterer, Madleine Melichart-kotig, Adelheid WoehrerAbstract:Objective Mitochondrial Disorders (MIDs) may manifest phenotypically with a plethora of clinical features, but polyarthralgia and cutaneous lesions are still infrequently reported and recognized as phenotypic manifestations of a MID.
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Multisystem Disease, Including Eosinophilia and Progressive Hyper-Creatine-Kinase-emia over 10 Years, Suggests Mitochondrial Disorder
Karger Publishers, 2017Co-Authors: Josef Finsterer, Johannes HuberAbstract:Background: Eosinophilia has not been reported as a manifestation of a Mitochondrial Disorder (MID). Here, we report a patient with clinical features suggesting a MID and permanent eosinophilia, multisystem disease, and progressive hyper-creatine-kinase (CK)-emia for at least 10 years. Materials and Methods: Methods applied included a clinical exam, blood chemical investigations, electrophysiological investigations, imaging, and invasive cardiological investigations. The patient was repeatedly followed up over several years. He required replacement cardiac surgery. Results: In a 57-year-old male, eosinophilia was first detected at the age of 44 years and has remained almost constantly present until today. In addition to eosinophilia, he developed progressive hyper-CK-emia at the age of 47 years. His history was further positive for hepatopathy, hyperlipidemia, hypothyroidism, renal insufficiency, spontaneous Achilles tendon rupture, double vision, exercise intolerance, muscle aching, mild hypoacusis, sensory neuropathy, seizures, and mitral insufficiency/stenosis requiring valve replacement therapy, oral anticoagulation, and pacemaker implantation. Based on the multisystem nature of his abnormalities and permanent hyper-CK-emia, a MID was suspected. Conclusion: Eosinophilia can be associated with a MID with myopathy, possibly as a reaction to myofiber necrosis. If eosinophilia is associated with progressive hyper-CK-emia and multisystem disease, a MID should be suspected
Ami Zinger - One of the best experts on this subject based on the ideXlab platform.
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MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked Mitochondrial Disorder
European Journal of Human Genetics, 2002Co-Authors: Esther Leshinsky-silver, Ami Zinger, Chaim N Bibi, Varda Barash, Menachem Sadeh, Tally Lerman SagieAbstract:MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly and Obesity) is an X-linked Disorder characterised by mental retardation, epileptic seizures, hypogenitalism, microcephaly and obesity. It was recently assigned to the locus Xp21.1-p22.13. We describe a child with MEHMO and lactic acidosis whose muscle biopsy revealed markedly reduced activities of complexes 1,3 and 4 of the Mitochondrial electron transport chain. Histological staining showed Mitochondrial proliferation and lipid storage. Electron microscopy revealed abnormal and enlarged mitochondria with concentric cristae and electron dense bodies. This is the first identification of MEHMO as a Mitochondrial Disorder and one of the very few X-linked Mitochondrial syndromes.
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MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked Mitochondrial Disorder
European Journal of Human Genetics, 2002Co-Authors: Esther Leshinsky-silver, Ami Zinger, Chaim N Bibi, Varda Barash, Menachem Sadeh, Dorit Lev, Tally Lerman SagieAbstract:MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly and Obesity) is an X-linked Disorder characterised by mental retardation, epileptic seizures, hypogenitalism, microcephaly and obesity. It was recently assigned to the locus Xp21.1-p22.13. We describe a child with MEHMO and lactic acidosis whose muscle biopsy revealed markedly reduced activities of complexes 1,3 and 4 of the Mitochondrial electron transport chain. Histological staining showed Mitochondrial proliferation and lipid storage. Electron microscopy revealed abnormal and enlarged mitochondria with concentric cristae and electron dense bodies. This is the first identification of MEHMO as a Mitochondrial Disorder and one of the very few X-linked Mitochondrial syndromes.
Chaim N Bibi - One of the best experts on this subject based on the ideXlab platform.
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MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked Mitochondrial Disorder
European Journal of Human Genetics, 2002Co-Authors: Esther Leshinsky-silver, Ami Zinger, Chaim N Bibi, Varda Barash, Menachem Sadeh, Tally Lerman SagieAbstract:MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly and Obesity) is an X-linked Disorder characterised by mental retardation, epileptic seizures, hypogenitalism, microcephaly and obesity. It was recently assigned to the locus Xp21.1-p22.13. We describe a child with MEHMO and lactic acidosis whose muscle biopsy revealed markedly reduced activities of complexes 1,3 and 4 of the Mitochondrial electron transport chain. Histological staining showed Mitochondrial proliferation and lipid storage. Electron microscopy revealed abnormal and enlarged mitochondria with concentric cristae and electron dense bodies. This is the first identification of MEHMO as a Mitochondrial Disorder and one of the very few X-linked Mitochondrial syndromes.
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MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked Mitochondrial Disorder
European Journal of Human Genetics, 2002Co-Authors: Esther Leshinsky-silver, Ami Zinger, Chaim N Bibi, Varda Barash, Menachem Sadeh, Dorit Lev, Tally Lerman SagieAbstract:MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly and Obesity) is an X-linked Disorder characterised by mental retardation, epileptic seizures, hypogenitalism, microcephaly and obesity. It was recently assigned to the locus Xp21.1-p22.13. We describe a child with MEHMO and lactic acidosis whose muscle biopsy revealed markedly reduced activities of complexes 1,3 and 4 of the Mitochondrial electron transport chain. Histological staining showed Mitochondrial proliferation and lipid storage. Electron microscopy revealed abnormal and enlarged mitochondria with concentric cristae and electron dense bodies. This is the first identification of MEHMO as a Mitochondrial Disorder and one of the very few X-linked Mitochondrial syndromes.