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Biomedical subjects

R Raininko

Publications and source records attributed to R Raininko.

At least 19 recordsLinked to original sources

MR characteristics and neuropathology in adult-onset autosomal dominant leukodystrophy with autonomic symptoms.

BACKGROUND AND PURPOSE: Three families with adult-onset autosomal dominant leukodystrophy (ADLD) presenting autonomic dysfunction as the first symptom are reported. We describe detailed MR appearances of the brain in 2 new families and neuropathology in 2 patients and compare the findings with those in other adult-onset leukodystrophies. METHODS: Twenty subjects (12 women and 8 men; age range, 29-70 years) from 2 unrelated families with ADLD were examined with MR. Six subjects were asymptomatic. Fourteen had autonomic dysfunction. Eleven of them also had pyramidal signs and ataxia. The brains of 2 autopsied patients were examined histopathologically. RESULTS: Two subjects manifested no neurologic symptoms, signs, or MR pathology. Eighteen subjects displayed radiologic abnormalities ranging from subtle T2 high-signal-intensity changes in the upper corticospinal tract to extensive confluent white matter changes, predominantly in a frontoparietal distribution, along the corticospinal tracts down to the medulla oblongata and in the upper and middle cerebellar peduncles. Periventricular white matter was spared or less affected than the adjacent white matter. Histopathology revealed marked loss of cerebral and cerebellar myelin without signs of inflammation. Oligodendrocytes were relatively spared, the number of axons not markedly decreased, and reactive gliosis was modest. The number of Purkinje cells in the cerebellum was reduced. CONCLUSIONS: Two families with adult-onset ADLD with the disease entity originally reported by Eldridge et al. (N Engl J Med 1984;311:948-53) were described. We propose naming the disease "adult-onset ADLD with autonomic symptoms." The characteristic radiologic findings, combined with the clinical symptoms and mode of inheritance, enable the diagnosis.

Adult↗

Detection and appearance of intraparenchymal haematomas of the brain at 1.5 T with spin-echo, FLAIR and GE sequences: poor relationship to the age of the haematoma.

The specific appearance of blood related to time at T1- and T2-weighted spin-echo (SE) sequences is generally accepted; thus, these sequences are classically used for estimating the age of haematomas. Magnetic resonance imaging at 1.5 T, including T1- and T2-weighted SE fluid-attenuated inversion recovery (FLAIR) and T2*-weighted gradient-echo (GE) sequences, was performed on 82 intraparenchymal haematomas (IPHs) and 15 haemorrhagic infarcts (HIs) in order to analyse the appearance at different stages and with different sequences, and to investigate how reliably the age of hematomas can be estimated. The IPHs had been previously detected by CT, were spontaneous ( n=72) or traumatic ( n=10) in origin and were of different sizes (2 mm to 7 cm) and ages (from 7.5 h to 4 years after acute haemorrhagic event). The age of the lesion was calculated from the moment when clinical symptoms started or the traumatic event occurred. The 15 patients with HIs were patients with ischaemic stroke in whom there was either a suspicion of haemorrhagic transformation on CT, or haemorrhage was detected as an additional finding on MR performed for other indications. Patients with conditions that could affect the SI of blood, such as anticoagulant therapy or severe anaemia, were excluded. The signal intensity pattern of the lesions was analysed and related to their ages without prior knowledge of the clinical data. All lesions were detected with T2*-weighted GE. T1-weighted SE missed 13 haematomas and T2-weighted SE and FLAIR sequences missed five. Haemorrhagic transformation was missed in three infarcts by T1-, T2-weighted SE and FLAIR. The signal pattern on FLAIR was identical to that on T2-weighted SE. For all sequences, a wide variety of signal patterns, without a clear relationship to the age of the haematomas, was observed. There was a poor relationship between the real MR appearance of IPHs and the theoretical appearance on SE sequences. T2*-weighted GE was effective for detecting small bleedings but was not useful for estimating the age of a lesion. The FLAIR does not provide any more information than T2-weighted SE.

Brain↗

Possible association of interleukin 1 gene locus polymorphisms with low back pain.

Based on a hypothesis that interleukin 1 (IL-1) activity is associated with low back pain (LBP), we investigated relationships between previously described functional IL-1 gene polymorphisms and LBP. The subjects were a subgroup of a Finnish study cohort. The IL-1alpha(C(889)-T), IL-1beta(C(3954)-T) and IL-1 receptor antagonist (IL-1RN)(G(1812)-A, G(1887)-C and T(11100)-C) polymorphisms were genotyped in 131 middle-aged men from three occupational groups (machine drivers, carpenters and office workers). A questionnaire inquired about individual and lifestyle characteristics and the occurrence of LBP, the number of days with pain and days with limitation of daily activities because of pain, and pain intensity, during the past 12 months. Lumbar disc degeneration was determined with magnetic resonance imaging. Carriers of the IL-1RNA(1812) allele had an increased risk of LBP (OR 2.5, 95% CI 1.0-6.0) and carriers of this allele in combination with the IL-1alphaT(889) or IL-1betaT(3954) allele had a higher risk of and more days with LBP than non-carriers. Pain intensity was associated with the simultaneous carriage of the IL-1alphaT(889) and IL-1RNA(1812) alleles (OR 3.7, 95% CI 1.2-11.9). Multiple regression analyses allowing for occupation and disc degeneration showed that carriage of the IL-1RNA(1812) allele was associated with the occurrence of pain, the number of days with pain and days with limitations of daily activities. Carriage of the IL-1betaT(3954) allele was associated with the number of days with pain. The results suggest a possible contribution of the IL-1 gene locus polymorphisms to the pathogenesis of LBP. The possibility of chance findings cannot be excluded due to the small sample size.

Adult↗

Neuroradiological findings (MRS, MRI, SPECT) in infantile neuronal ceroid-lipofuscinosis (infantile CLN1) at different stages of the disease.

Infantile neuronal ceroid-lipofuscinosis (infantile CLN1) is a progressive and uniformly fatal lysosomal storage disease of the nervous system. The purpose of this study was to compare the findings of various radiological examinations of the brain in the course of infantile CLN1 in order to evaluate the relative usefulness of the methods and their potential for monitoring therapeutic interventions. We examined eight infantile CLN1 patients, 51 studies, in various stages of the disease--preclinical to late stage--with proton magnetic resonance spectroscopy (1H-MRS), MRI, and perfusion SPECT, and in addition three benzodiazepine (BZ) receptor ligand SPECT studies. Both 1H-MRS and MRI showed abnormal findings before clinical manifestations of the disease. Cortical hypoperfusion and loss of cortical BZ receptors revealed by SPECT appeared simultaneously with clinical signs. After the age of 4 years MRI and SPECT alterations progressed minimally, whereas 1H-MRS showed progressive deterioration of neurometabolism. Of the four methods used in this study, MRI proved to be the most practicable for diagnosing infantile CLN1; the final diagnosis of infantile CLN1 is confirmed by the characteristic clinical picture and DNA or PPT enzyme analysis. The combination of 1H- MRS and MRI could be most useful for monitoring therapeutic interventions.

Aspartic Acid↗

MR detectability and appearance of small experimental intracranial hematomas at 1.5 T and 0.5 T. A 6-7-month follow-up study.

PURPOSE: To investigate the detectability and appearance of small experimental intracranial hemorrhages on MR at 0.5 T and 1.5 T in a long-term follow-up. MATERIAL AND METHODS: Autologous blood (1 ml) was injected into the brain of 7 rabbits to create intraparenchymal hematomas. The injected blood leaked partially into the cerebrospinal fluid (CSF) spaces. MR imaging at 0.5 T and 1.5 T were performed immediately before and after hematoma creation, at 2 weeks and monthly up to 6 or 7 months using T1-, proton density- and T2-weighted (w) spin-echo (SE), FLAIR and T2*-w gradient echo (GE) pulse sequences. RESULTS: Blood was detected both in the brain and in the CSF spaces of all animals during the first hours after hematoma creation at 1.5 T. In the last examination after 6-7 months, the T2*-w GE sequences still showed residues of the intraparenchymal hematomas in all the rabbits at 1.5 T, but the signal pattern was not specific for the age of the hematomas. SE and FLAIR sequences were insensitive. The histopathology revealed iron deposits in all brains. CONCLUSION: Residues of small intraparenchymal hematomas can be seen for months with T2*-w GE sequences on brain MR imaging at 1.5 T. The age of the microhematomas cannot be estimated with MR imaging.

Animals↗

Experimental intracerebral and subarachnoid/intraventricular haemorrhages.

PURPOSE: To compare the detectability of small experimental intracranial haemorrhages on MR imaging at 0.5 T and 1.5 T, from hyperacute to subacute stages. MATERIAL AND METHODS: 1 ml of autologous blood was injected into the brain of 15 rabbits to create intraparenchymal haematomas. Since the blood partially escaped into the cerebrospinal fluid (CSF) spaces, detectability of subarachnoid and intraventricular blood was also evaluated. MR imaging at 0.5 T and at 1.5 T was repeated up to 14 days, including T1-, proton density- and T2-weighted (w) spin-echo (SE), FLAIR and T2*-w gradient echo (GE) pulse sequences. The last MR investigation was compared to the formalin-fixed brain sections in 7 animals. RESULTS: The intraparenchymal haematomas were best revealed with T2*-w GE sequences, with 100% of sensitivity at 1.5 T and 90-95% at 0.5 T. Blood in the CSF spaces was significantly (p < 0.05) better detected at 1.5 T with T2*-w GE sequences and detected best during the first 2 days. The next most sensitive sequence for intracranial blood was FLAIR. SE sequences were rather insensitive. CONCLUSION: 1.5 T equipment is superior to 0.5 T in the detection of intracranial haemorrhages from acute to subacute stages. T2*-w GE sequences account for this result but other sequences are also needed for a complete examination.

Animals↗

MR follow-up of small experimental intracranial haemorrhages from hyperacute to subacute phase.

PURPOSE: To compare pulse sequences in revealing intracranial bleeding from the hyperacute to subacute phase. MATERIAL AND METHODS: We injected 0.3-1 ml of autologous blood into the brain of 8 rabbits. MR imaging was performed immediately after haematoma creation and then at determined intervals up to 9-12 days. All images were analysed by two observers. After the last MR investigation, the brain was fixed in formalin. The last MR images were compared to the fixed brain sections and to the histologic findings. RESULTS: T2*-weighted GE sequences, both conventional spoiled and echoplanar sequences, revealed the intraparenchymal haematomas as hypointensities in all but 1 case, which was negative from the second day onward (a rabbit with 0.3 ml blood injected). The signal patterns remained unchanged during the follow-up. The haematoma sizes and shapes corresponded well to gross pathology. Blood in the cerebrospinal fluid (CSF) space was detected with T2*-weighted GE sequences in a great majority of the examinations during the first 2 days. The cases with the smallest injected volume of blood were negative. SE sequences were rather insensitive. The FLAIR sequence often revealed blood in CSF spaces but not in the brain. CONCLUSION: T2*-weighted GE sequences are capable of revealing very small intraparenchymal haemorrhages from the hyperacute to the subacute phase, and blood in CSF spaces during at least the first 2 days.

Acute Disease↗

Two brothers with macrocephaly, progressive cerebral atrophy and abnormal white matter, severe mental retardation, and Lennox-Gastaut spectrum type epilepsy: an inherited encephalopathy of childhood?

Two brothers with severe mental retardation of unknown origin were found to share several physical anomalies, including large round head, small concave nose, downslanted palpebral fissures, and gingival hyperplasia. In addition to relative macrocephaly, magnetic resonance imaging (MRI) showed severe cerebral atrophy, especially fronto-temporally. The brothers also had a thin corpus callosum and atrophic caudate nuclei. The reduced white matter showed patchy periventricular signal intensity changes. The lateral and third ventricles were large, but the fourth ventricle was of normal size. The boys had large cisterna magna, communicating widely with the fourth ventricle, but no vermian hypoplasia. Both boys had Lennox-Gastaut spectrum type epilepsy. No chromosomal anomalies were found, despite the suggestive clinical picture. Some of the clinical findings resembled fetal alcohol effects/fetal alcohol syndrome (FAE/FAS), which was also suggested by history. Current diagnostic criteria for FAE/FAS, however, excluded full-blown FAS in these cases and failed to explain the entire clinical picture in the boys. We argue that these boys had an unidentified inherited syndrome, possibly modified by fetal alcohol exposure.

Abnormalities, Multiple↗

CNS manifestations of Nasu-Hakola disease: a frontal dementia with bone cysts.

BACKGROUND: Nasu-Hakola disease or polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) is a genetically heterogeneous disease characterized by a combination of systemic bone cysts and dementia. OBJECTIVE: The authors present a neurologic, neuroradiologic, and neuropathologic analysis of a series of PLOSL patients in which the diagnosis has been confirmed by molecular genetic methods. METHODS: Clinical, neurophysiologic, and imaging follow-up data on eight patients as well as autopsy samples of three patients were analyzed in this study. All eight patients were homozygous for a loss-of-function mutation in the DAP12 gene. RESULTS: In most patients, the disease debuted with pain in ankles and wrists after strain during the third decade, followed by fractures caused by cystic lesions in the bones of the extremities. Frontal lobe syndrome and dementia began to develop by age 30, leading to death by age 40. Neuroimaging disclosed abnormally high and progressively increasing bicaudate ratios and calcifications in the basal ganglia as well as increased signal intensities of the white matter on T2-weighted MR images even before the appearance of clinical neurologic symptoms. Three patients who had undergone autopsies showed an advanced sclerosing leukoencephalopathy with frontal accentuation, widespread activation of microglia, and microvascular changes. CONCLUSIONS: Although PLOSL in most patients manifests by bone fractures, some patients do not show any osseous symptoms and signs before the onset of neurologic manifestations. Consequently, patients with frontal-type dementia of unknown origin should be investigated by x-ray of ankles and wrists. The current results suggest early basal ganglia involvement in PLOSL.

Adaptor Proteins, Signal Transducing↗

Disc height and signal intensity of the nucleus pulposus on magnetic resonance imaging as indicators of lumbar disc degeneration.

STUDY DESIGN: A cross-sectional magnetic resonance imaging (MRI) study of degeneration of the lumbar spine. OBJECTIVES: To compare the usefulness of disc height and that of T2-weighted signal intensity as indicators of disc degeneration. SUMMARY OF BACKGROUND DATA: Disc height and signal intensity have been used as indicators for disc degeneration. Their relation to each other and to early degeneration has not been well documented. There is evidence that physical load can affect disc height. METHODS: Forty-one machine operators, 41 construction carpenters, and 46 office workers, aged 40-45 years, and 22 students aged 18-20 years were examined with sagittal magnetic resonance imaging. All study participants were men. The mean value of the anterior and posterior disc height and the relative T2-weighted signal intensity of the nucleus pulposus of discs L2-L3 to L5-S1 were measured. RESULTS: Young men showed the lowest disc height but the highest relative signal intensity. Disc height showed an increasing trend from the office workers (sedentary) to blue-collar workers (more physical work) at all disc levels but L5-S1. Relative signal intensity showed a decreasing trend for these same worker types at all levels. In generalized linear modeling, signal intensity and the occupations, in reference to the young students, showed a significant effect on disc height. CONCLUSIONS: Relative signal intensity was lower in the middle-aged men than in the young men, indicating age-related disc degeneration. Despite the general positive association between disc narrowing and decreased relative signal intensity, disc narrowing may behave unexpectedly in relation to signal intensity and age. Signal intensity may be a more sensitive measure of disc degeneration. The validity of disc height as an indicator of early degeneration seems questionable.

Adolescent↗

Atypical focal non-neoplastic brain changes in neurofibromatosis type 1: mass effect and contrast enhancement.

Children and young adults with neurofibromatosis type 1 often have small high-signal foci on T2-weighted images of the brain. We describe follow-up of two patients in whom one of the foci had atypical features, commonly regarded as signs of a neoplasm. In the first, one lesion showed temporary contrast enhancement and decreasing mass effect. The second developed an expanding lesion that increased minimally in size over 4.5 year's follow-up. The borderline between neoplastic and non-neoplastic lesions seems to be indistinct.

Adolescent↗

Absence of the common carotid artery in a patient with a persistent trigeminal artery variant.

We found the present case when retrospectively reviewing the files of patients with intracranial aneurysm in our institution. It concerns the coexistence of a rare developmental anomaly of the aortic arch vessels and a persistent carotid-vertebrobasilar communication variant. Since no common embryologic basis is known, this association was probably fortuitous. Each of these particular anomalies can pose unique diagnostic and therapeutic difficulties. Rossitti, S. and Raininko, R. (2001). Clinical Radiology56, 79-81.

Abnormalities, Multiple↗

Non-neoplastic brain abnormalities on MRI in children and adolescents with neurofibromatosis type 1.

The occurrence, localization and longitudinal course of non-neoplastic MRI abnormalities in children and adolescents with neurofibromatosis type 1 (NF 1) were studied. Thirty-five patients who satisfied the criteria for NF 1 underwent 114 MRI examinations. They were 9 months to 18 years old at their first examination, and 23 were examined more than once (2 - 11 times). The follow-up time varied from 3 months to 10 years (mean 4 years). Thirty-one patients (89%) showed focal high signal intensities on T2-weighted images in the cerebellum, brain stem, deep cerebral gray matter and, less frequently, in the cerebral white matter. Changes were also seen in 80% and 50% of the proton density-weighted and T1-weighted images, respectively. Newly appearing, growing, decreasing and disappearing lesions occurred contemporaneously and in all ages. New lesions still developed in the late teens. Three lesions showed temporary contrast enhancement. Five expansive lesions were found in four individuals without related clinical symptoms. Four of them receded during follow-up. These cases indicate that the differential diagnosis between neoplastic and non-neoplastic lesions is not clear. The results support the view that high T2-signal lesions are so common in NF 1 that they should be included as another criterion for the diagnosis.

Adolescent↗

Low back pain in relation to lumbar disc degeneration.

STUDY DESIGN: Cross-sectional magnetic resonance imaging (MRI) study. OBJECTIVES: To study the relation of low back pain (LBP) to disc degeneration in the lumbar spine. BACKGROUND DATA: Controversy still prevails about the relationship between disc degeneration and LBP. Classification of disc degeneration and symptoms varies, hampering comparison of study results. METHODS: Subjects comprised 164 men aged 40-45 years-53 machine drivers, 51 construction carpenters, and 60 office workers. The data of different types of LBP, individual characteristics, and lifestyle factors were obtained from a questionnaire and a structured interview. Degeneration of discs L2/L3-L5/S1 (dark nucleus pulposus and posterior and anterior bulge) was assessed with MRI. RESULTS: An increased risk of LBP (including all types) was found in relation to all signs of disc degeneration. An increased risk of sciatic pain was found in relation to posterior bulges, but local LBP was not related to disc degeneration. The risks of LBP and sciatic pain were strongly affected by occupation. CONCLUSIONS: Low back pain is associated with signs of disc degeneration and sciatic pain with posterior disc bulges. Low back pain is strongly associated with occupation.

Adult↗

Disc degeneration and bone density in monozygotic twins discordant for insulin-dependent diabetes mellitus.

The effects of insulin-dependent diabetes mellitus on bone density and connective tissue degeneration have theoretical interest and practical relevance. Several experimental studies in animals have demonstrated the harmful effects of insulin deficiency on connective tissues. However, clinical studies in humans have produced somewhat contradictory results, most likely due to difficulties controlling for general degeneration and factors associated with diabetes. In nine pairs of monozygotic twins discordant for insulin-dependent diabetes mellitus, we compared femoral and lumbar bone mineral density (assessed by dual-energy x-ray absorptiometry) and spinal degeneration (assessed by magnetic resonance imaging). The bone densities were, on average, 0.1-0.3% lower (p = 0.87-0.96) in diabetic patients. However, after controlling for smoking, we found that the bone density in the femoral neck was 2.5% (0.025 g/cm2) lower in diabetic individuals than in their twins (p = 0.09). The five magnetic resonance imaging parameters used to evaluate disc degeneration did not differ between diabetic patients and their twins. In conclusion, our results provide no evidence that insulin-dependent diabetes mellitus has any major effect on bone density or disc degeneration.

Absorptiometry, Photon↗

MRI in rolandic epilepsy.

Hippocampal and/or white matter abnormalities have been found on the MRIs in 10/18 children with typical rolandic epilepsy. The etiology of the first-mentioned is not evident, whereas the latter may be a result of a maturational delay involving a defective myelination. Both abnormalities may cause cognitive dysfunction. In order to get a better understanding of rolandic epilepsy both MRI and neuropsychological studies are wanted in groups of children with typical rolandic seizures with and without rolandic sharp waves, as well as in groups of children with typical rolandic sharp waves and atypical seizures.

Age of Onset↗