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Biomedical subjects

R H Boerman

Publications and source records attributed to R H Boerman.

31 records · Page 2Linked to original sources
PubMed1995

Mutation in DHP receptor alpha 1 subunit (CACLN1A3) gene in a Dutch family with hypokalaemic periodic paralysis.

Hypokalaemic periodic paralysis (HypoPP) is characterised by transient attacks of muscle weakness of varying duration and severity accompanied by a drop in serum potassium concentration during the attacks. The largest known HypoPP family is of Dutch origin and consists of 277 members in the last five generations, 55 of whom have HypoPP inherited in an autosomal dominant pattern. Forty-eight persons including 28 patients with a proven diagnosis of HypoPP were used for linkage analysis. Microsatellite markers were used to exclude 45 to 50% of the genome and linkage to chromosome 1q31-32 was found. No recombinants were found between HypoPP and D1S412 and a microsatellite contained within the DHP receptor alpha 1 subunit (CACLN1A3) gene. A previously reported G to A mutation causing an arginine to histidine substitution at residue 528 in the transmembrane segment IIS4 of the CACLN1A3 gene was shown in patients by restriction analysis of genomic PCR products.

Adolescent↗
PubMed1993

JC virus and multiple sclerosis: a refutation?

Polyomavirus JC (JCV) has been implicated in the etiology of multiple sclerosis (MS), because it causes progressive multifocal leukoencephalopathy (PML), a multifocal demyelinating disease with many microscopical similarities to MS. During childhood, the virus establishes a latent infection in the kidneys, which can be reactivated in immunocompromised patients. During reactivation, the virus is shed in the urine. The kidney is the only known site of latent infection and reactivation. Therefore, excretion of the virus in the urine of MS patients is to be expected, if reactivated JCV is involved in the etiology of MS. We studied urine samples of 53 patients with definitive MS and of 53 controls matched for age and sex. We found no evidence of active JCV infection in MS. The hypothesis of a polyomaviral etiology of MS is not supported by the results of this study.

Adult↗
PubMed1992

Spread of herpes simplex virus to the cerebrospinal fluid and the meninges in experimental mouse encephalitis.

The development of the inflammatory response within the brain, meninges and cerebrospinal fluid (CSF) compartment has been studied for the first time simultaneously in experimental herpes simplex virus (HSV) encephalitis after inoculation via the cornea. Two major viral pathways were found from the eye to the brain: one through the trigeminal nerve to the brain stem and one through the nasolacrimal duct to the olfactory system. Viral antigen was found to be present in the CNS before there were clinical signs or cellular infiltration of brain tissue. Subsequently, the virus spread to all parts of the trigeminal brain stem complex. This phenomenon was accompanied by severe inflammation of the meninges covering the trigeminal root near its entry into the brain stem. The meninges near the entry of the olfactory fila also contained antigen. However, HSV-1 did not spread along meningeal rami of the trigeminal nerve and, consequently, is--at least in this experimental model--not a route to reach the inferior frontal and temporal lobes. The development of CSF changes followed the histopathological development of meningitis and encephalitis closely. HSV-DNA could be detected in the CSF from day 4 post inoculation (p.i.) and HSV-1-specific immunofluorescence in CSF cells was convincingly present on day 5 p.i.; on the same days (4 and 5 p.i.) inflammatory cells were found in apposition to infected cells in the brain. We postulate that HSV is carried to the CSF by infected leukocytes rather than a direct spread to the CSF by simple extension of the encephalitic process to the meningeal surface.(ABSTRACT TRUNCATED AT 250 WORDS)

Animals↗
PubMed1991

Polymerase chain reaction for early detection of HSV-DNA in cerebrospinal fluid: an experimental mouse encephalitis study.

A series of experiments was carried out using a mouse HSV-1 encephalitis model for detecting HSV-DNA in CSF by the polymerase chain reaction (PCR). The results were correlated with the time period after corneal inoculation, clinical signs and symptoms, and progression of infection in brain tissue (antigen detection and histopathology), and were compared with virus isolation by spin-amplified culture (SAC/IF). The PCR proved to be superior to SAC/IF, both with respect to early detection and the percentage of positive samples. The results of PCR did not correlate with signs of disease, nor with the interval post-inoculation. A correlation with the spread of HSV within the brain tissue was found. The possible pathways for virus spread from brain parenchyma to the CSF as well as a possible explanation for the low amounts of virus and viral-DNA within the CSF are discussed.

Animals↗
PubMed1991

Anomalous origin of the common carotid arteries as a cause of stroke.

A 45-year-old patient presented with symptoms caused by an encephalomalacia in the right medial cerebral artery. Angiography showed the common carotid arteries to originate just above the aortic valves. This unique vascular anomaly can be explained by current views on the development of the aorta and aortic arch arteries. The anomaly may be a risk factor for atherosclerotic obstruction of the carotid arteries.

Aorta, Thoracic↗
PubMed1991

Detection of herpes simplex virus in the ependyma of experimentally infected mice.

Forty-five Swiss albino mice were inoculated with HSV-1 (strain McKrae) by the corneal route. The spread of HSV to the brain stem and the ventricular ependyma was investigated. The polymerase chain reaction (PCR) was used to detect HSV-DNA in the CSF during the course of infection. The ependyma of the third and fourth ventricle and the central canal contained viral antigen at a late stage of infection in up to 60% of mice. At this stage we found that many animals gave a positive PCR in the CSF although no antigen could be detected in the ependymal cells. The presence or absence of antigen containing cells could not be related to detection of HSV-DNA in the CSF. The results show that infection of the ventricular wall is not important for the spread of HSV to the CSF.

Animals↗
PubMed1989

Polymerase chain reaction and viral culture techniques to detect HSV in small volumes of cerebrospinal fluid; an experimental mouse encephalitis study.

A technique is described for the detection of HSV-DNA in very small volumes (5-10 microliters) of cerebrospinal fluid (CSF). The method was evaluated in CSF samples of 4-6-week-old mice inoculated with HSV-1 via the corneal route. The sensitivity of the PCR assay was compared with results of spin-amplified viral culture with immunofluorescent visualization (SAC/IF), routine viral culture (RVC) and radioactive dot-blot hybridization (DBA) in CSF samples obtained from other mice. The results show the PCR to be superior over the other techniques: infectious virus or viral DNA in CSF was demonstrated by PCR, SAC/IF, RVC and DBA in 68, 55, 20 and 2.5%, respectively. These results show the feasibility of the PCR for a rapid, non-invasive diagnosis of human HSV-encephalitis.

Animals↗
PubMed1989

Diagnosis of progressive multifocal leucoencephalopathy by hybridisation techniques.

In situ hybridisation with acetyl-aminofluorene (AAF) and 35S-labelled DNA probes for polyomaviruses, was used to detect JC virus DNA in brain necropsy material in a patient with progressive multifocal leucoencephalopathy (PML). In a second patient PML was diagnosed from a brain necropsy specimen using the same technique. The main infected cell type were oligodendrocytes; dot hybridisation was used to estimate the number of viral copies in each infected cell. Southern blot hybridisation for further analysis of the viral genome was also carried out. In situ hybridisation with non-radioactive labelled polyomavirus DNA provides a simple and specific means for studying viral DNA in formaldehyde fixed tissue sections from patients with suspected PML. Even in small biopsy samples hybridisation results can be correlated with standard histopathological, immunocytochemical, and electron microscopic findings.

Adult↗
PubMed1988

Immunofluorescence detection of herpes simplex virus type 1 antigen in cerebrospinal fluid cells of experimentally infected mice.

Experimentally infected mice were used to assess the value of immunofluorescence (IF) procedures in cerebrospinal fluid (CSF) cells in comparison with routine viral culture of CSF for diagnosis of herpes simplex type-1 (HSV-1) encephalitis. Virus specific antigen was detected by immunofluorescence in the majority of CSF cells in 75% of infected animals. In contrast, only 20% of infected mice had positive viral cultures, which sometimes took as long as a week to show a cytopathological effect (CPE). It is concluded that antigen detection by immunofluorescence is a rapid, specific and sensitive technique for demonstrating HSV-1 antigen in CSF cells of experimentally infected mice. Our results put forward a plea for further studies using these techniques on CSF samples from patients with suspected HSV-1 encephalitis. The prerequisites for reliable interpretation of results have been defined in this study.

Animals↗
PubMedDate not supplied

Myelopathy due to spinal epidural abscess without cord compression: a diagnostic pitfall.

Spinal epidural abscess (SEA) is a neurological emergency that requires urgent diagnosis and treatment. We report 2 patients with SEA, in whom, on neuropathological examination, the neurological signs were found to be caused by spinal cord ischemia due to thrombosis of leptomeningeal vessels and compression of spinal arteries, respectively, while evidence of spinal cord compression was absent. Clinicians and neuropathologists should be aware of the variable mechanisms underlying the neurological involvement in SEA. Absence of spinal cord compression by the abscess may hamper early diagnosis and treatment.

Aged↗