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  • 1
    Electronic Resource
    Electronic Resource
    Exercise-induced myalgia in hypothyroidism (1993)
    Springer
    Journal of molecular medicine 71 (1993), S. 999-1001 
    Details
    ISSN: 1432-1440
    Keywords: Hypothyroidism ; Myalgia ; Myopathy ; Rhabdomyolysis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Recurrent rhabdomyolysis is very uncommon in hypothyroid myopathy. A 30-year-old woman is reported, who presented with exercise-induced myalgias and high levels of serum creatine kinase but no muscle weakness. Muscle biopsy showed signs of a recurrent rhabdomyolysis. Hypothyroidism was diagnosed by serum hormone levels. The myopathy rapidly improved with thyroxine treatment.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00180031
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  • 2
    Electronic Resource
    Electronic Resource
    A specific point mutation in the mitochondrial genome of Caucasians with MELAS (1991)
    Springer
    Human genetics 〈Berlin〉 88 (1991), S. 233-236 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The mitochondrial DNA (mtDNA) of Japanese patients suffering from the syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes (MELAS) exhibits a specific heteroplasmic A→G transition in the tRNALeu at position 3243. In this study, we investigated mtDNA from skeletal muscle, cardiac muscle, brain, liver, diaphragm, fibroblasts and blood cells of four Caucasians with MELAS, one younger healthy sister of two MELAS patients, and eleven controls. We found that 1) the mutation was present in all investigated tissues of Caucasians with MELAS but not in controls, 2) within a single patient, the tissue-specific variation of the copy number of mutated mtDNA covered the same range as in the skeletal muscle of different patients, 3) the mutation was also present in the blood cells of the healthy sister of two MELAS siblings.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00206080
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  • 3
    Electronic Resource
    Electronic Resource
    Deficiency of plasmalogens in the cerebro-hepato-renal (Zellweger) syndrome (1984)
    Springer
    European journal of pediatrics 142 (1984), S. 10-15 
    Details
    ISSN: 1432-1076
    Keywords: Cerebro-hepato-renal syndrome ; Plasmalogens ; Peroxisomes ; Zellweger syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We have analyzed the phospholipid composition of various organs of patients with the cerebro-hepato-renal (Zellweger) syndrome. The phospholipid composition of tissues from controls and patients was very similar except for their plasmalogen contents. In controls about 50% of the phosphatidylethanolamine fraction of brain, heart, kidney and skeletal muscle and about 10% of that fraction in control liver tissue was found to consist of plasmalogen. In control heart muscle, but not in other control tissues about 25% of the phosphatidylcholine fraction consist of plasmalogens. In contrast, plasmalogens were nearly absent in the corresponding tissues of Zellweger patients. The amount of phosphatidylethanolamine plasmalogens in both erythrocytes and fibroblasts of Zellweger patients is lowered significantly compared to control erythrocytes and control fibroblasts respectively, although this reduction is not as dramatic as in brain, heart, kidney, skeletal muscle and liver of patients. Phosphatidylcholine-plasmalogens are only present in low amounts in both controls, heterozygotes and patients. In recent years considerable evidence has accumulated to show that peroxisomes are involved in cellular lipid metabolism. Notably, the key enzymes of ether lipid (plasmalogen) biosynthesis in rodents were recently found to be located in peroxisomes. Since electronmicroscopic studies have shown that peroxisomes are absent in liver and kidney of patients with the cerebro-hepato-renal syndrome, our results suggest that an inability to integrate these key enzymes in a functional peroxisome leads to a severe disturbance in plasmalogen biosynthesis. We propose that the multiple clinical and biochemical defects in Zellweger patients are secondary to a deficiency in peroxisomal function.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442582
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  • 4
    Electronic Resource
    Electronic Resource
    Unusual Clinical Presentation of a Meningeal Melanocytoma with Seizures: Case Report and Review of the Literature (1998)
    Springer
    Acta neurochirurgica 140 (1998), S. 621-628 
    Details
    ISSN: 0942-0940
    Keywords: Keywords: Meningeal melanocytoma; pigmented and melanotic meningioma; electron microscopy; immunohistochemistry.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary  The 17th case of an intracranial meningeal melanocytoma is presented in a 67-year old man. It is the 6th melanocytoma arising from the cavum Meckeli and the first presenting with seizures. Surgical removal was curative for a follow up period of 32 months. Besides the clinical and neuroradiological presentation, the histological, ultrastructural and immunohistochemical features are described. A review of the literature including cases with malignant transformation is given and differential diagnostic problems are discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s007010050151
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  • 5
    Electronic Resource
    Electronic Resource
    Different in situ hybridization patterns of mitochondrial DNA in cytochrome c oxidase-deficient extraocular muscle fibres in the elderly (1993)
    Springer
    Virchows Archiv 422 (1993), S. 7-15 
    Details
    ISSN: 1432-2307
    Keywords: Mitochondrial DNA ; Ageing ; Cytochrome c oxidase deficiency ; Extraocular muscles
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Previous studies have revealed an increase of cytochrome c oxidase-deficient fibres/cells in the skeletal and heart muscle of humans during ageing. The enzyme defect is due to a lack of both mitochondrial and nuclear coded enzyme subunits. In the present investigation in situ hybridization of mitochondrial DNA (mtDNA) has been performed on extraocular muscles of humans over 70 years of age to show whether mutated mtDNA with the so called common deletion of 4,977 basepairs at position 8,482–13,460 of mtDNA accumulates in the cytochrome c oxidase-deficient fibres. The cytochrome c oxidase-deficient fibres revealed different hybridization patterns: a normal hybridization signal with three different mtDNA probes, a reduced or lacking signal with all three probes indicating depletion of mtDNA and a selective hybridization defect with the probe recognizing the “common deletion” region of mtDNA as evidence of mtDNA deletion. The results suggest that during ageing defects of cytochrome c oxidase are associated with different molecular alterations of mtDNA. Deletion and depletion of mtDNA are not the only nor probably the leading mechanisms responsible for the loss of respiratory chain capacity during ageing. The normal hybridization signal in most of the cytochrome c oxidase-deficient fibres and the loss of mitochondrial and nuclear protein subunits indicate the involvement of other, especially nuclear factors.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01605127
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  • 6
    Electronic Resource
    Electronic Resource
    Focal deficiency of cytochrome-c-oxidase in skeletal muscle of patients with progressive external ophthalmoplegia (1983)
    Springer
    Virchows Archiv 402 (1983), S. 61-71 
    Details
    ISSN: 1432-2307
    Keywords: Progressive external ophthalmoplegia ; Mitochondrial myopathy ; Cytochrome-c-oxidase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary In skeletal muscle biopsies of 8 patients with progressive external ophthalmoplegia combined light and fine structural cytochemical studies of cytochrome-c-oxidase revealed the absence of the enzyme in single fibres with or without accumulation of abnormal mitochondria. However, some fibres showed abnormal mitochondria without any deficiency of the enzyme. In one case with only slight mitochondrial proliferation the existence of the enzyme defect was the most remarkable finding. The occurence of the enzyme defect obviously does not depend on concominant structural alterations of the chondriom. The results are consistent with an acquired mitochondrial injury leading to a gradual loss of enzyme activity either earlier (with or without a minimal reactive mitochondrial proliferation) or later (after a phase of mitochondrial proliferation) in the course of the disease. Focal lack of cytochrome-c-oxidase activity is apparently a constant feature of the syndrome; it therefore may be not only of pathogenetic but also of diagnostic importance and in this connection cytochemical-fine-structural demonstration of cytochrome-c-oxidase is a valuable method. In contrast to the bio-chemical approach it allows not only the detection but also the exact anatomical localization of single fibre defects.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00695049
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  • 7
    Electronic Resource
    Electronic Resource
    Mitochondrial myopathies: divergences of genetic deletions, biochemical defects and the clinical syndromes (1990)
    Springer
    Journal of neurology 237 (1990), S. 5-10 
    Details
    ISSN: 1432-1459
    Keywords: Mitochondrial DNA ; Mitochondrial myopathy ; Chronic progressive external ophthalmoplegia ; Kearns-Sayre syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Genomic Southern analysis of muscle mitochondrial (mt) DNA from 16 patients with mitochondrial myopathies was performed; 14 of 16 patients had chronic progressive external ophthalmoplegia (CPEO), while 2 patients had mitochondrial myopathies without CPEO. Eleven patients with CPEO, including 5 who exhibited the complete triad of symptoms characteristic of the Kearns-Sayre syndrome (i.e. CPEO, retinal degeneration and heart block) had hetero-plasmic mtDNA with deletions ranging from 2.0 to 8.0 kb in length. There was no clear-cut correlation between the size and location of the deletions, on the one hand, and the histo-chemical and biochemical data or the severity of the disease, on the other.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00319660
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  • 8
    Electronic Resource
    Electronic Resource
    Muscle and skin biopsies are a sensitive diagnostic tool in the diagnosis of CADASIL (1999)
    Springer
    Journal of neurology 246 (1999), S. 526-532 
    Details
    ISSN: 1432-1459
    Keywords: Key words CADASIL ; Cerebrovascular disease ; Skin biopsy ; Muscle biopsy ; Electron microscopy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a microangiopathic syndrome. Although the defective gene has been identified, genetic analysis may be effort some due to its large size and various mutations. Providing a reliable diagnostic marker would therefore be helpful. Electron microscopy has revealed characteristic electron-dense granular deposits in the basal lamina of vessels of patients with CADASIL. We investigated the sensitivity of skin and muscle biopsies for diagnosing CADASIL. We examined 30 family members of three unrelated German families affected by CADASIL. In 14 of the 21 affected individuals we performed skin and muscle biopsies; two patients were clinically asymptomatic. Under electron microscopy all muscle and skin biopsy specimens showed patches of granular and electron-dense material in the basal layer of both arterioles and capillaries. These findings confirm that general microangiopathy is a typical feature of this syndrome and is present in the early phase of the disease with or without clinical manifestation. Thus, as electron microscopy of skin biopsy specimens can establish the diagnosis of CADASIL with high certainty, it may be considered the method of first choice.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004150050398
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  • 9
    Electronic Resource
    Electronic Resource
    The application of a biotin-anti-biotin gold technique providing a significant signal intensification in electron microscopic immunocytochemistry: a comparison with the ultrasmall immunogold silver staining procedure (1998)
    Springer
    Histochemistry and cell biology 109 (1998), S. 119-125 
    Details
    ISSN: 1432-119X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract  A three-step biotin-anti-biotin gold-detection system (method A) has been applied for ultraimmunocytochemistry using ultrasmall colloidal gold (0.8 nm) linked to anti-biotin antibodies which were visualized and enhanced by silver reduction. The reactivity for glucagon in human pancreatic islets and for cytochrome-c oxidase in heart mitochondria has been compared to a two-step ultrasmall immunogold technique (method B). For both antigens, method A provided significantly higher labelling indices (P〈0.001): the labelling density for cytochrome-c oxidase was 223/μm2 using method A and 78/μm2 using method B. For glucagon, the labelling density was 1455/μm2 with method A and 322/μm2 with method B. The results demonstrate that the silver-intensified biotin-anti-biotin gold-detection system is a valuable immunocytochemical method for signal enhancement. The method utilizes biotinylated antibodies from different species, allowing its broad application at the electron microscopic level.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004180050209
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  • 10
    Electronic Resource
    Electronic Resource
    Somnolenz und Erbrechen bei einer Patientin nach operiertem Nebenschilddrüsen-Karzinom (1999)
    Springer
    Der Internist 40 (1999), S. 311-315 
    Details
    ISSN: 1432-1289
    Keywords: Schlüsselwörter Hyperkalzämische Krise ; Hyperparathyreoidismus ; Nebenschilddrüsenkarzinom ; Nebenschilddrüsendiagnostik
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Zusammenfassung Eine 60jährige Patientin mit einem 9 Monate zuvor resezierten Nebenschilddrüsen-Karzinom wurde mit Muskelschwäche, Polyurie, Polydipsie und unstillbarem Erbrechen in somnolentem Zustand stationär aufgenommen. Bei der klinischen Untersuchung imponierten eine deutliche Dehydratation, Paresen der Extremitätenmuskulatur sowie eine Hyperreflexie. Laborchemisch bestand eine schwere Hyperkalzämie und ein Hyperparathyreoidismus. Morphologische Untersuchungen zeigten drei Raumforderungen zwischen rechtem Schilddrüsenlappen und Sternoklavikulargelenk. Der Verdacht auf ein lokoregionales Rezidiv konnte durch eine 99m-Tc/MIBI-Szintigraphie sowie eine selektive Parathormon-Katheteruntersuchung mit Spitzenspiegeln im Bereich des Zusammenflusses von Vena jugularis interna und Vena subclavia weiter erhärtet werden. Die hyperkalzämische Krise konnte durch Infusionstherapie, Furosemid- und Pamidronat-Gabe klinisch und laborchemisch günstig beeinflußt werden, so daß bei normalem Bewußtseinszustand am dritten Tag des stationären Aufenthaltes eine En-Bloc-Resektion des Rezidiv-Tumors mit Entfernung zervikaler und mediastinaler Lymphknoten durchgeführt werden konnte. Die Patientin konnte mit normalen Kalzium- und Parathormonspiegeln im Serum entlassen werden und ist nach nunmehr 12 Monaten postoperativen Verlaufs ohne Hinweis auf ein neuerliches Rezidiv. Als Komplikation verblieben eine rechtsseitige Recurrensparese und Horner-Symptomatik.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001080050340
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