Unique Exercise Lactate Profile in Muscle Phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease.

Introduction: Glycogen storage disease V (GSDV, McArdle disease) and GSDVII (Tarui disease) are the most common of the rare disorders of glycogen metabolism. Both are associated with low lactate levels on exercise. Our aim was to find out whether lactate response associated with exercise testing could distinguish between these disorders.

HHV-6-positivity in diseases with demyelination.

Background: The triggering agent of multiple sclerosis is still unknown and many viruses, including human herpesvirus-6 (HHV-6), are under suspicion. In earlier study we found patients who had HHV-6 reactive OCBs in their CSF. We wanted to investigate whether HHV-6 has an active role in diseases with demyelination.

Intrathecal human herpesvirus 6 antibodies in multiple sclerosis and other demyelinating diseases presenting as oligoclonal bands in cerebrospinal fluid.

Demyelinating diseases of the central nervous system (CNS) often include elevated IgG production in intrathecal space presenting as oligoclonal bands (OCBs) in cerebrospinal fluid (CSF). In most demyelinating diseases, e.g.

[The diagnostics of subarachnoid hemorrhage and warning leaks by spectrophotometric analysis of the cerebrospinal fluid].

Subarachnoid hemorrhage typically starts abruptly with an intense ("thunderclap") headache but sometimes the symptoms are atypical. The mortality is approximately 50%. Correct immediate diagnosis is important because the hemorrhage is usually caused by a treatable aneurysm.

Viral infections in neonates with seizures.

The aim of this study was to determine the incidence of viral infections in the central nervous system (CNS) of neonates with seizures of unknown origin. Serum and cerebrospinal fluid (CSF) samples of 50 neonates were studied for antibodies to 13 different microbes by enzyme immunoassay, and CSF samples were investigated for four specific nucleic acids by polymerase chain reaction. For viral cultures throat, stool and CSF samples were obtained.

CSF findings in neonates with seizures; infectious and noninfectious.

In order to evaluate parameters of cerebrospinal fluid (CSF) we studied 105 CSF samples of 50 neonates with seizures of unknown origin for cell count and chemistry (protein, albumin, glucose, IgG-index and albumin-ratio). Viral studies for 13 different microbes were performed from serum and CSF. CSF parameters of the babies with a suggested viral infection (n = 13) were compared with those without any viral findings (n = 37), and followed up to the age 45 weeks since conception.

Elimination kinetics of myoglobin and creatine kinase in rhabdomyolysis: implications for follow-up.

Objective: Creatine kinase and myoglobin are markers of muscular damage in rhabdomyolysis. Whereas myoglobin is considered to be the principal compound causing tubular damage, serum creatine kinase level is presently guiding therapeutic interventions in clinical practice to prevent acute renal failure. Because differences in elimination kinetics of these two compounds may influence therapeutic decisions, we studied elimination kinetics of myoglobin and creatine kinase in patients with rhabdomyolysis.