Anterior temporal white matter lesions in myotonic dystrophy with intellectual impairment: an MRI and neuropathological study

We studied 12 patients with myotonic dystrophy using MRI and the Mini-mental state examination (MMSE), to see it specific MRI findings were associated with intellectual impairment. We also compared them with the neuropathological findings in an autopsy case of MD with intellectual impairment. Mild intellectual impairment was found in 8 of the 12 patients. On T2-weighted and proton density-weighted images, high-intensity areas were seen in cerebral white matter in 10 of the 12 patients. In seven of these, anterior temporal white-matter lesions (ATWML) were found; all seven had mild intellectual impairment (MMSE 22-26), whereas none of the four patients with normal mentation had ATWML. In only one of the eight patients with intellectual impairment were white-matter lesions not found. Pathological findings were severe loss and disordered arrangement of myelin sheaths and axons in addition to heterotopic neurons within anterior temporal white matter. Bilateral ATWML might be a factor for intellectual impairment in MD. The retrospective pathological study raised the possibility that the ATWML are compatible with focal dysplasia of white matter.     

Radiation myelopathy: a clinicopathological study with special reference to correlation between MRI findings and neuropathology

We describe magnetic resonance imaging (MRI) and neuropathological findings in a patient with chronic progressive radiation myelopathy (CPRM). An 81-year-old man with esophageal cancer underwent radiotherapy. Four years later he developed a progressive neurological deficit below the irradiated level of the spinal cord. Neurological examination revealed spastic paraplegia. MRI findings showed an area of high signal intensity on T2-weighted images of the thoracic spinal cord. On the basis of clinical and MRI findings, we diagnosed his condition as CPRM. MRI performed thirteen months after onset of neurological signs revealed mild atrophy of the spinal cord detected on T1-weighted images and an area of high signal intensity within the spinal cord detected on T2-weighted images. Neuropathological examination revealed findings consistent with radiation myelopathy. We speculate that the area of high signal intensity within the spinal cord detected on T2-weighted images might be a result of proliferation of small vessels, which was discovered upon autopsy.     

Prevalence study of oral white lesions with special reference to a new definition of oral leucoplakia

In this survey, the experiences with and implications of a revised definition of oral leucoplakia are described. One of the new aspects of the revised definition is the distinction between a provisional, clinical diagnosis and a definitive one for which histopathological examination is required. A prevalence study of white lesions of the oral mucosa among a selected population of 1000 consecutive patients from the Netherlands showed a prevalence of a provisional and definitive diagnosis of oral leucoplakia of 0.6 and 0.2%, respectively. For uniform reporting, a recently proposed classification and staging system has been used to stage leucoplakias with a definitive diagnosis. The use of the revised definition of oral leucoplakia, as well as the classification and staging system, seem very suitable for epidemiological studies.     

Primary suprarenal insufficiency and multiglandular atrophy in a patient affected by myotonic dystrophy

We present the case of a 27 year old man diagnosed as having myotonic dystrophy (MD) who showed two novelties with respect to those endocrinopathies hitherto described as being associated with MD: primary suprarenal failure and pluriglandular atrophy (thyroid and suprarenal, in addition to the already known testicular type). We describe here the results of a clonic, hormonal and genetic study of the proband and his family (a carrier father and an affected brother). We discuss the possible etiopathogenesis of the picture which, in our opinion, could consist of an abnormality of the AMPc dependent protein-kinase, related to the MD gene (PKMD). Consequently intracellular signaling was altered after the union of peptide hormones (in our case ACTH, LH and TSH) to their receptor leading, through the lack of trophic stimulus, to glandular atrophy. We conclude that before diagnosing MD, it is convenient to add suprarenal study to the traditional evaluations of possible associated endocrinopathies.     

Congenital muscular dystrophy with merosin deficiency: MRI findings in five patients

We present the MRI findings in five patients with congenital muscular dystrophy (CMD) and merosin (laminin alpha2) deficiency, which was total in one and partial in four. In one patient with partial merosin deficiency, MRI was normal. The other four patients had supratentorial white matter abnormalities. In three, T2-weighted images revealed subcortical, deep lobar and periventricular high signal in white matter, while in the other there were only small peritrigonal areas of increased signal. On T1-weighted images, there was slightly low signal. Cortical abnormalities were absent. None of these changes were accompanied by symptoms or signs of central nervous system involvement. White matter abnormalities in a patient with CMD should prompt investigation of merosin.     

Gray matter and white matter perfusion imaging in patients with severe carotid artery lesions

BACKGROUND: There are limited data on the influence of body composition, sex, seasonality, ethnicity, and geographic location on the components of energy expenditure in children. OBJECTIVE: The objective was to examine the determinants of total energy expenditure (TEE), resting energy expenditure (REE), and activity-related energy expenditure (AEE) in children. DESIGN: Cross-sectional data from 232 children (4-10 y of age) from 4 ethnic groups (white American, African American, Guatemalan Mestizo, and Native American Mohawk) were examined. RESULTS: In 104 white children studied in Vermont and Alabama, TEE was significantly higher in spring than in fall, higher in boys than in girls, and higher in children in Vermont (all effects: approximately 0.42 MJ/d, P < 0.05). The significant effect of sex was explained through REE; the influences of season and location were explained through AEE. In all children, there was no effect of sex but a significant effect of ethnicity (P < 0.01) on TEE: a significant effect of sex (P < 0.01) and no effect of ethnicity (P = 0.16) on REE; and no effect of sex and a significant effect of ethnicity on AEE. The significant effects of ethnicity were due to lower values in Guatemalan children. TEE correlated most strongly with weight (r = 0.81) and fat-free mass (r = 0.79-0.81); REE with weight (r = 0.85) and fat-free mass (r = 0.80-0.87); and AEE with maximal oxygen consumption (r = 0.54), fat-free mass (r = 0.50), and fat mass (r = 0.49). CONCLUSIONS: 1) Season and location influenced TEE in children through their effects on AEE, 2) a higher REE in boys was consistent across all groups examined, 3) Guatemalan children had lower TEE due to a lower AEE, 4) body weight may be the best predictor of TEE, and 5) maximal oxygen consumption was the strongest marker of AEE.     

The brainstem and thalamic lesions in dentatorubral-pallidoluysian atrophy: an MRI study

We studied the frequency and characteristics of brainstem and thalamic lesions in dentatorubral-pallidoluysian atrophy using MRI. Of 15 subjects diagnosed by DNA analysis, 13 had lesions in the pontine base, nine in the midbrain, and five in the thalamus. Lesions were correlated positively with the patient's age, but not with neurologic features or numbers of CAG repeats. Patients with Machado-Joseph disease or spinocerebellar ataxia 1 did not show these characteristic lesions.     

Histogenetic types and size of polypoid lesions in the stomach, with special reference to cancerous change

The personality correlates of study difficulty and academic performance in university students have been measured in terms of psychiatric symptomatology and premorbid characteristics. The UCLSQ, MHQ and DPI were administered to two groups of male and female students presenting at an health centre: one (n = 72) of patients seeking psychological help, the other (n = 73) a control group. Significant differences between the two groups were formed on the MHQ, confirming previous results; and these were supplemented by differences on the DPI. Motivational and psychoneurotic components of study difficulty were significantly related to MHQ scores in both groups. DPI scores were more closely related to study difficulty in the patients than controls; and served particularly to characterize their sylbism and work satisfaction. The DPI added to the picture of a subgroup of students observed both in an earlier and the present study: academically successful patients scoring high on phobic anxiety.     

Treated plasma cell lesions of bone with MRI signs of response to treatment: unexpected pathological findings

Two cases of treated plasma cell lesions of bone are reported for which contrast-enhanced MRI had suggested necrosis, based on lack of enhancement after gadolinium injection, and in which pathologic examinations revealed the presence of extensive viable neoplastic tissue. These cases highlight the need for cautious interpretation of contrast-enhanced MRI signs of response to treatment and inactivity of lesions in the setting of plasma cell neoplasms.     

Adrenal lesions in calves dying from endotoxin shock, with special reference to the Waterhouse-Friderichsen syndrome

The influence of hypoxemia on the brain content of several organic acids and NH+4, AND ITS RELATIONship to the accompanying hypocapnia was studied in unanesthetized rats subjected to hypoxemia for periods ranging between 2 hours and 7 days. Under acute conditions, 'mild' hypoxemia (FO2 = 6--7%), these increases were greater and accompanied by increased gamma-aminobutyric acid (GABA) and decreased glutamic and aspartic acid levels; glutamine and NH+4 remained normal. When hypocapnia was prevented, 'severe' hypoxemia induced only a rise in GABA and slight elevations in lactic and alpha-ketoglutaric acid. During prolonged severe hypoxemia, the effects on the brain amino acids were maintained throughout, indicating that they are independent from the intracerebral pH which should progressively normalize. The effect on lactic acid gradually disappeared. The results show that during hypocapnic hypoxemia the rise in brain GABA is hypoxemia dependent, the decrease in glutamic and aspartic acid is hypocapnia dependent and the increase in lactic acid is in a large way alkalosis dependent.     

Outcomes 5 years post-traumatic brain injury (with further reference to neurophysical impairment and disability)

The assessment of recovery and outcomes post-traumatic brain injury (TBI) has often been poorly researched and reported in past literature. Indeed, an accurate documentation of outcomes in this population had never been performed in the state of South Australia. To redress this situation this study collected data on people who had sustained a TBI 5 years previously, using medical records, personal interview/questionnaire and neurophysical assessment in order to investigate broad outcomes as well as the specific nature and prevalence of any residual physical impairment and disability. The results (n = 67) indicate that the subjects' living arrangements had not altered significantly, and nearly half had returned to some form of paid work, though over 50% were reliant on the welfare system. The majority (57%) felt they had improved in all areas, 19% partially improved and 8% felt they had actually deteriorated. Considering the physical data, the most frequent areas of residual impairment were headaches, followed by balance difficulties and fatigue/weakness. Functionally, 30% had some degree of deficit in upper limb activity and 9% required assistance for particular transfer tasks. Overall balance was impaired in 34% and gait was altered in 24% with 9% reliant on wheelchairs for mobility. Such data may be used in the education of people with TBI and those who live and/or work with them, as well as in future studies assessing the impact of various factors on recovery and outcomes. Evidence was also provided that residual physical issues should be considered along with the more researched areas of cognition and psychosocial issues.     

Severe deep white matter lesions and outcome in elderly patients with major depressive disorder: follow up study

OBJECTIVE: To determine the difference in outcome among elderly people with major depression who do and do not have severe white matter lesions on magnetic resonance imaging. DESIGN: Follow up study. SETTING: Two psychiatric and two general hospitals in Melbourne, Australia. SUBJECTS: 60 depressed subjects aged over 55 referred to hospital psychiatric services with major depressive disorder meeting American Psychiatric Association (DSM-IIIR) criteria. MAIN OUTCOME MEASURE: Proportion with good outcome as determined by full recovery from initial illness and no evidence of depressive relapse or cognitive decline during follow up among those with and without lesions. RESULTS: Mean (SD) follow up was 31.9 (9.9) months. Survival analysis showed a significant effect of severe lesions on time to poor outcome (P=0.04), with median survival 136 days in those with severe lesions compared with 315 days in those without. CONCLUSION: Severe white matter change on magnetic resonance imaging is associated with poor outcome in elderly depressed subjects.     

Ultrasound evaluation of heart disease, with special reference to congenital and acquired lesions (author's transl)

Time position monitoring of numerous cardiac structures can be obtained by single element echocardiography with high time resolution. This method offers an important way to measure cardiac dimensions and to prove the anatomical relation different cardiac structures. Technological problems are briefly discussed and normal values are given. Cardiac lesions diagnosed by echocardiography are reviewed.     

A study on thallium-201 SPECT in brain metastases of lung cancer: with special reference to tumor size and tumor to normal brain thallium uptake ratio

The activity of prolyl endopeptidase (PEP), a serine proteinase, has been found to be significantly lower in the blood of patients with major depression than in normal volunteers. The present study investigates plasma PEP activity in 25 major depressed, 10 manic, and 14 schizophrenic subjects versus 30 normal volunteers. It also examines the effects of antidepressants, valproate, and neuroleptic drugs on plasma PEP activity. PEP activity was significantly lower in major depressed subjects than in normal volunteers and in patients with mania and schizophrenia. In depressed subjects, plasma PEP activity was significantly increased during treatment with antidepressant drugs, such as fluoxetine. Plasma PEP activity was significantly increased in manic and schizophrenic subjects compared with normal volunteers. In manic subjects, short-term treatment with valproate had a significant suppressive effect on PEP activity. No significant effects of neuroleptics on PEP activity could be found in the schizophrenic patients. The results support the hypothesis that lower PEP activity could play a role in the pathophysiology of major depression, while increased PEP activity may be related to psychotic conditions, such as mania and schizophrenia.     

Initial and follow-up brain MRI findings and correlation with the clinical course in Wilson's disease

We performed pretreatment brain MRIs in 25 patients with neurologically symptomatic Wilson's disease (WD) and clinical and MRI follow-up in 16 of them. All 25 pretreatment MRIs revealed abnormalities, with abnormal high-signal intensity (HSI) in bilateral thalami being the most common (92%). HSI lesions in the brainstem (84%) and the basal ganglia (72%) were also common. Brain atrophy was present in 88% of the 25 patients. In the follow-up period of 5 to 24 months, during which the patients were treated with D-penicillamine, both HSI lesions and neurologic symptoms improved in 88% of the 16 patients, but the brain atrophy did not change.     

Blood cadmium levels in a general male population with special reference to smoking

Blood-cadmium (Cd-B) level, blood pressure, and several biological parameters in blood were measured in 440 men who were not occupationally exposed to cadmium and who had a detailed smoking history. No significant correlation was found between Cd-B and blood pressure. Among biological parameters, those known to be related to smoking appeared significantly correlated with Cd-B. Analysis of smoking history showed that Cd-B is strongly elevated in current smokers, with a dose-effect relationship between daily consumption of tobacco and Cd-B; moreover, exsmokers had significantly higher Cd-B than nonsmokers. This finding shows that Cd-B partly reflects past exposure to cadmium.