In the skeletal muscle of a patient with bilateral ptosis suggestive of progressive external ophthalmoplegia (PEO), but without ragged red fibres, electron microscopy revealed a moderate proliferation of mitochondria in nearly all fibres. A focal absence of cytochrome c oxidase and of mitochondrial ATPase was demonstrated histochemically in 3.2% and 1.4% respectively of the fibres. In 0.9% of the fibres both enzymes were deficient. In addition, mitochondrial ATPase, the ATP-synthesizing enzyme latent in controls, showed activation already before addition of an uncoupler. This indicates loosely coupled oxidative phosphorylation. The findings point to a complex derangement of mitochondrial function. Immunocytochemistry of cytochrome c oxidase favours the assumption that the defect is based on a highly diminished content of immunoreactive enzyme protein.

Adenosine Triphosphatases↗

PubMedDate not supplied

Nemaline cardiomyopathy in a young adult: an ultraimmunohistochemical study and review of the literature.

Heart transplantation was performed in a 26-year-old man who suffered from severe dilatative cardiomyopathy. A nemaline myopathy characterized by the accumulation of Z-line material and the formation of rod-like structures had been diagnosed in the skeletal muscle. Routine light microscopy of the heart disclosed only nonspecific findings. On electron microscopy scattered cardiomyocytes showed formations of rod-like structures and a structural desintegration of contractile filaments near the intercalated disks. Immunocytochemistry at the light and electron microscopical level exhibited an accumulation of alpha-actinin, desmin, and occasionally vinculin in abnormal cardiomyocytes. The rods were specifically stained with alpha-actinin and were less immunoreactive for desmin. No mutations were revealed in the skeletal muscle alpha-actin gene. The results illustrate a complex derangement of the cytoskeletal apparatus in nemaline cardiomyopathy. Nemaline cardiomyopathy may be difficult to diagnose in routine diagnostic procedures. A close correlation between the severity of cardiac dysfunction and the morphological expression of the disease in the heart may not be found. Nemaline cardiomyopathy should be included in the differential diagnosis of dilatative cardiomyopathy and may be diagnosed with certainty by ultrastructural-immunhistochemical investigations.

Actinin↗

PubMedDate not supplied

Noninvasive (13)C-octanoic acid breath test shows delayed gastric emptying in patients with amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterized by progressive loss of motor neurons. However, ALS has been recognized to also involve non-motor systems. Subclinical involvement of the autonomic system in ALS has been described. The recently developed (13)C-octanoic acid breath test allows the noninvasive measurement of gastric emptying. With this new technique we investigated 18 patients with ALS and 14 healthy volunteers. None of the patients had diabetes mellitus or other disorders known to cause autonomic dysfunction. The participants received a solid standard test meal labeled with (13)C-octanoic acid. Breath samples were taken at 15-min intervals for 5 h and were analyzed for (13)CO(2) by isotope selective nondispersive infrared spectrometry. Gastric emptying peak time (t(peak)) and emptying half time (t(1/2)) were determined. All healthy volunteers displayed normal gastric emptying with a mean emptying t(1/2) of 138 +/- 34 (range 68-172) min. Gastric emptying was delayed (t(1/2) > 160 min) in 15 of 18 patients with ALS. Emptying t(1/2) in ALS patients was 218 +/- 48 (range 126-278) min (p < 0.001). These results are compatible with autonomic involvement in patients with ALS, causing delayed gastric emptying of solids and encouraging the theory that ALS is a multisystem disease rather than a disease of the motor neurons only.

Adult↗

PubMedDate not supplied

[The value of muscle biopsy in the differential diagnosis of polyneuropathies].

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Biopsy↗

PubMedDate not supplied

[Inflammatory muscle diseases].

Inflammatory myopathies are as a rule rare diseases of skeletal muscle. In the majority of cases noninfective autoimmunological reactions are assumed. Only few diseases have an infectious origin. From a myopathological point of view, polymyositis must be selected from interstitial nodular myositis. The most important clinical diagnosis is polymyositis/dermatomyositis. Additional nodular myositis can be found in many other connective tissue diseases. Rare conditions of polymyositis are to be separated from idiopathic cases. The therapy of acute polymyositis or dermatomyositis consists in corticosteroids, if necessary in combination with immunosuppressive drugs.

Biopsy↗

PubMedDate not supplied

[Atypical course in (eosinophilic) fasciitis].

A 22-year old male patient developed--following a short phase of monarthritis--the symptoms of a symmetric, polysynoviatic, discrete erosive rheumatoid arthritis, thus fulfilling five of seven ACR criteria. Initially as well as persisting during the course of the disease the palpable swelling of synovitis showed a coarse character. The radiological progression at the hands during an interval of eight years being only minimal the loss of functions, up to contraction of joints (left hip) augmented considerably during that time. Neither rheumatoid factor or antinuclear antibodies nor evident eosinophilia or hypergammaglobulinaemia could be proved or verified. In 1994 muscle biopsy led to the diagnosis "fasciitis with low-graded eosinophilia". Anamnestic, clinical and radiological signs and data as well as the course of the disease and assessing of differential diagnoses are presented and discussed.

Adult↗

PubMedDate not supplied

Inflammatory demyelinating neuropathy in patients with end-stage renal disease receiving continuous ambulatory peritoneal dialysis (CAPD)

OBJECTIVE: To report on 3 patients with inflammatory demyelinating peripheral neuropathy in strong temporal coincidence with the initiation of peritoneal dialysis (PD) therapy. SETTING: Nephrology and Neurology Department of the University Hospital, Munich, Germany. PATIENTS: Three patients with end-stage renal failure presented with the clinical picture of inflammatory demyelinating peripheral neuropathy within 4 to 10 weeks after start of continuous ambulatory peritoneal dialysis (CAPD). They had acute or subacute onset of lower extremity or generalized weakness, diminished reflexes, elevated spinal fluid protein levels, and signs of demyelinating neuropathy on electrophysiological testing. MEASURES: Clinical follow-up, nerve conduction studies, cerebral spinal fluid (CSF). RESULTS: All patients did not improve under intensified PD therapy but took profit from immunomodulatory therapy. One bed-bound patient improved after change to hemodialysis and showed complete remission after renal transplantation. CONCLUSION: Because of strong temporal coincidence, a causal relationship between CAPD and inflammatory demyelinating peripheral neuropathies can be suspected in these 3 patients.

Adult↗