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Biomedical subjects

B Kruse

Publications and source records attributed to B Kruse.

At least 19 recordsLinked to original sources

Cognitive and brain magnetic resonance imaging findings in adrenomyeloneuropathy.

Neuropsychological functioning and brain magnetic resonance imaging (MRI) were evaluated in 84 men with adrenomyeloneuropathy (AMN). MRI was normal in 61%, the "pure AMN" group, while 39%, the "cerebral AMN" group, showed brain white matter abnormalities. Except for mild deficits in psychomotor speed and visual memory, neuropsychological function was normal in pure AMN. Most patients with cerebral AMN had normal IQ and language but evidenced impaired psychomotor speed, spatial cognition, memory, and executive functions. Patients with MRI evidence of very severe cerebral disease had global and language impairment as well, and deficits in all patients were highly correlated with degree of brain MRI involvement.

Adrenoleukodystrophy

Visual system abnormalities in adrenomyeloneuropathy.

We studied the visual system in 59 men with adrenomyeloneuropathy. Pattern-reversal visual evoked potentials, magnetic resonance imaging, and clinical examination revealed that visual pathways are affected in 63% of patients, involving the optic discs, optic nerves, lateral geniculate bodies, optic radiations, and parietooccipital cortex. This indicates both primary demyelination of the optic nerves and discs, and more diffuse involvement of postchiasmal structures.

Adrenoleukodystrophy

Cerebral proton magnetic resonance spectroscopy in Rett syndrome.

Combined MRI/MRS studies were performed in 9 girls with Rett syndrome of different ages. NAA, as marker of neuronal tissue, was found to decrease with increasing age. There was no evidence for a defective energy metabolism. The data point towards a probably secondary degenerative process in the pathogenesis of Rett syndrome.

Adolescent

Hemimegalencephaly: localized proton magnetic resonance spectroscopy in vivo.

Two children with hemimegalencephaly were examined by magnetic resonance imaging (MRI) and localized proton MR spectroscopy (MRS). In both cases, structural changes in the enlarged hemisphere included pachy- or polymicrogyria and gliosis of white matter. Associated metabolic disturbances included a dramatic reduction of glutamate and N-acetylaspartate (NAA) in white matter. Less severe or no alterations were noted in cortical gray matter, basal ganglia, and cerebellum. The older child (13 years) showed increased myoinositol in both gray and white matter as well as markedly increased choline-containing compounds in gray matter. Both children also had mildly decreased NAA levels in the white matter of the contralateral hemisphere. The spectroscopic findings indicate loss of vital neuroaxonal tissue and glial cell proliferation. Metabolic disturbances were more pronounced in the older child. The normal-appearing hemisphere was mildly affected in both cases.

Brain

Multislice proton magnetic resonance spectroscopic imaging in X-linked adrenoleukodystrophy.

Multislice proton magnetic resonance spectroscopic imaging permits metabolic analysis of brain tissue in vivo by data acquisition in four oblique axial slices, each 15-mm thick and divided into 0.8-ml single-volume elements. We applied this technique to the systematic study of 25 patients with adrenoleukodystrophy: 3 with the severe childhood or adult cerebral form of the disease, 5 with adrenomyeloneuropathy, 12 with no demonstrable neurological involvement, and 5 women heterozygous for adrenoleukodystrophy who had some degree of neurological disability. Abnormalities on magnetic resonance spectroscopic imaging included a reduction in N-acetyl aspartate, an increase in choline-containing compounds, and at times, an increase in lactate. Five patients showed abnormalities in the presence of normal-appearing magnetic resonance images, and in 8 other patients the alterations on spectroscopic images were more severe than those demonstrable by magnetic resonance imaging. Correlation with clinical course suggests that an increase in the choline-containing compounds is associated with an active demyelinative process, whereas such compounds are not elevated in lesions that are stable. We conclude that magnetic resonance spectroscopic imaging is a more sensitive indicator of early neurological involvement than is magnetic resonance imaging, and that the character of abnormalities detected by the former technique may serve as a gauge of the degree of activity of the demyelinating process and as a guide to the selection and evaluation of therapeutic approaches.

Adolescent

In vivo proton magnetic resonance spectroscopy of the brain in a patient with L-2-hydroxyglutaric acidemia.

Morphologic appearance and metabolic disturbances of the brain of a patient with L-2-hydroxyglutaric acidemia were investigated with use of magnetic resonance imaging and localized proton magnetic resonance spectroscopy in vivo. Whereas magnetic resonance imaging revealed increased internal and external cerebrospinal fluid spaces as well as patchy white matter lesions, metabolic deviations included a 50% decrease of N-acetylaspartate (neuronal marker), a 75% increase of myo-inositol (glial marker), and a 40% decrease of choline-containing compounds in white matter relative to age-matched controls. A clinical deterioration of the patient was clearly reflected in a follow-up examination 22 mo later, resulting in a further reduction of N-acetylaspartate and a more pronounced enhancement of myo-inositol. No elevation of lactate was observed. The magnetic resonance spectroscopy findings are in line with a generalized neurodegenerative process in L-2-hydroxyglutaric acidemia but also suggest a defect in phosphatidyl inositol metabolism of glial cells.

Adolescent

Alterations of brain metabolites in metachromatic leukodystrophy as detected by localized proton magnetic resonance spectroscopy in vivo.

The brain morphology and chemistry of seven children with late infantile (4/7) and juvenile (3/7) forms of metachromatic leukodystrophy (MLD) were investigated by magnetic resonance imaging (MRI) and localized proton magnetic resonance spectroscopy (MRS). Patients who were examined at least 6 months after the onset of symptoms (6/7) had severe leukodystrophic changes on MRI. Proton MRS revealed a marked reduction of the neuronal marker N-acetylaspartate in white and grey matter and elevated lactate in demyelinated areas. In contrast to other leukodystrophies MLD patients showed a generalized increase of brain myo-inositol (2- to 3-fold in white matter), indicating a specific role in the pathophysiology of demyelination in MLD.

Adolescent

Diffuse white matter disease in three children: an encephalopathy with unique features on magnetic resonance imaging and proton magnetic resonance spectroscopy.

Amongst 21 children with unclassified white matter diseases three patients could be characterised by an identical clinical picture, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (MRS) findings as a probably distinct entity. Following a normal early development they later showed rapidly progressive motor symptoms (ataxia, spasticity) leading to severe handicap within one or two years after onset. Later on bulbar symptoms, optic atrophy and epileptic seizures occurred. The MRI showed a diffuse homogeneous hypodensity of the white matter almost identical to the signal of the ventricles. MRS revealed a near total absence of N-acetylaspartate, choline and creatine and an increase of lactate and glucose. One girl and one boy were siblings, indicating an autosomal recessive trait.

Aspartic Acid

Tubular carcinoma of the breast: mammographic appearance.

OBJECTIVE: Tubular carcinoma of the breast is an uncommon malignant growth that can have subtle mammographic findings. Tubular carcinoma is usually found incidentally during screening mammography. It can be differentiated from conventional breast cancers by its smallness and the lack of palpable findings on physical examination of the breast. The mammographic findings in patients with pure tubular carcinoma (90% tubular formation or greater on histologic examination) have not been reported in the recent radiologic literature. MATERIALS AND METHODS: We reviewed the mammographic and sonographic findings and clinical histories of 13 patients with biopsy-proved pure tubular carcinoma. Findings on physical examination of the breast were normal in nine patients. RESULTS: On mammograms, 11 of the 13 tubular carcinomas appeared as small (1.7-cm diameter or less) spiculated masses. The average tumor diameter measured on mammograms was 0.8 cm in patients with normal results of physical examination of the breasts and 1.2 cm in patients with a palpable mass. In two patients, mammography showed suspicious microcalcifications or normal findings. Sonography was performed in three patients and results were normal. CONCLUSION: Tubular carcinoma of the breast manifests mammographically as a small spiculated mass. Because of their smallness, tubular carcinomas can be differentiated from other forms of infiltrating ductal carcinoma on mammograms. Tubular carcinomas are most frequently found incidentally at screening mammography. With the growing emphasis on screening mammography, an increase in the detection of this form of breast cancer can be expected.

Adenocarcinoma

Multiple sclerosis in children: cerebral metabolic alterations monitored by localized proton magnetic resonance spectroscopy in vivo.

In vivo proton magnetic resonance spectroscopy of 8 children (7-16 years) with established multiple sclerosis revealed distinct alterations in regional cerebral metabolism associated with different aspects of the disease: (1) Localized proton spectra (2 to 4-ml volumes of interest) from multiple sclerosis plaques were generally characterized by a decrease in N-acetylaspartate and creatine, and an increase in cholines and myo-inositol relative to age-matched control subjects, (2) neither chronic nor enhancing plaques (by gadolinium-diethylenetriamine pentaacetic acid) during an acute exacerbation showed elevated levels of lactate or lipids, (3) spectra from adjacent white matter that did not appear suspicious in magnetic resonance images were similar to those of normal control subjects, and (4) cortical gray matter related to neighboring multiple sclerosis lesions showed a notable reduction of N-acetylaspartate. The present results show that functional impairment in multiple sclerosis is linked to gross metabolic disturbances of neuronal cell chemistry. We suggest that focal demyelination is accompanied by increased membrane precursors of proliferative turnover and is associated with secondary neuronal shrinkage or loss, perhaps extending into related cortical gray matter.

Adolescent

Multiple sclerosis in childhood: report of 15 cases.

We report the preliminary results of an ongoing study of multiple sclerosis (MS) in childhood. The investigations include an analysis of the clinical picture and course. Multiple sclerosis in early childhood may present atypically, with a symptomatology suggesting diffuse encephalomyelitis, meningeal reaction, brain oedema, seizures, impaired consciousness and in some cases take a lethal course. Imaging studies including MRI and MR-spectroscopy, CSF-analysis, electrophysiology (VEP, BAEP, SER), and virological and immunological investigations are performed. So far 15 children have been studied. Their age at the onset of the disease ranged from 3 to 15 years. Abnormal CSF-findings with pleocytosis and oligoclonal IgG bands were present in 11 and 10 out of 15 patients respectively. MRI revealed numerous white matter lesions in the brain stem and cerebral hemispheres. VEP, BAEP and SER's were abnormal in most children. Proton magnetic resonance spectra from plaques exhibited a 50-80% decrease in N-acetyl aspartate, which is a potential marker of vital neuronal tissue, a decrease of the creatine pool and an increase of choline-containing compounds. Lactate was not increased. Our observations of MS in early childhood cast doubt on some of the previous notions concerning a latency period of several years between the exposure to a still unknown agent and the manifestation of MS. In view of atypical features in the initial phase, it would seem desirable to record cases of encephalomyelitis of undetermined origin as potential cases of MS and to register the further course for verification or exclusion.

Adolescent

Breast cancer: mammographic and sonographic findings after augmentation mammoplasty.

The authors retrospectively reviewed 11 cases of breast cancer in patients who had undergone augmentation mammoplasty. The mammogram or sonogram was abnormal in 10 patients, including six with an abnormal mammographic density or ultrasound study and four with calcifications. One patient had dense breasts and no suspicious findings at mammography. In four patients without palpable findings in the breast, the malignancy was initially detected by means of mammography. In five of six patients with a palpable breast mass, special mammographic views and sonography were helpful in evaluating the mass. Lymph nodes were not involved in six (60%) of the 10 patients with ductal carcinomas. The detection of breast cancer in the augmented breast by means of mammography is possible, even in patients without palpable findings. Modified-position views and sonography may be helpful in evaluating palpable masses. Patients with implants who develop cancer do not necessarily present at a more advanced stage.

Adult

Termination of transcription in human mitochondria: identification and purification of a DNA binding protein factor that promotes termination.

In a transcription system using a HeLa cell mitochondrial lysate programmed by mitochondrial DNA constructs containing the main heavy strand promoter and the transcription termination site at the 16S rRNA/leucyl-tRNA boundary, an appreciable fraction of the heavy strand transcripts terminates at this site, as it does in vivo. A DNA binding protein(s) that protects a 28 bp region immediately adjacent and downstream of the 3' ends of the in vivo and in vitro transcripts has been identified in the lysate and highly purified on an oligodeoxynucleotide affinity column. An activity promoting specific termination of heavy strand transcripts copurified with the DNA binding protein(s), pointing to the involvement of this protein in transcription termination. A distinctive modification of the footprint not correlated with terminating activity has also been observed.

Chromatography, Affinity

Transvaginal sonography: comparison with transabdominal sonography in the diagnosis of pelvic masses.

In a retrospective study, we compared transvaginal sonograms with transabdominal sonograms in 67 women referred for evaluation of palpable pelvic masses. The diagnoses included ovarian cyst (27), endometrioma (12), complex cyst (four), dermoid (three), infection (three), ovarian malignancy (two), and uterine fibroid (three). The final diagnosis was made surgically in 41 patients (61%) and by a combination of sonographic and clinical correlation in the remaining patients. More information about the internal architecture or anatomy of the mass was provided by the transvaginal images than by the transabdominal scans in 51 (76%) of the patients. Transabdominal sonography did not provide more diagnostic information in any of the patients examined. Transvaginal sonography was helpful in obese patients, in those with a large amount of bowel gas, and in those unable to achieve adequate bladder filling. Six simple cysts and four complex pelvic masses were identified solely on transvaginal sonograms. The results suggest that transvaginal sonography has considerable advantages over conventional transabdominal sonography in the evaluation of pelvic masses in women.

Adult