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The validity of criteria for the evaluation of cerebral atrophy by computed tomography.

Computed tomography of the brain was used in evaluating demented and nondemented elderly people. The incidence of convulutional atrophy and ventricular enlargement correlated well with pathologic and pneumoencephalographic examination of a similar population. Computed tomography also showed certain instances of dementia without atrophy and evidence of atrophy without dementia. The absence of brain atrophy in a demented patient should prompt a search for a potentially treatable cause of the dementia. The authors discuss criteria for diagnosing atrophy by computed tomography and conclude that, because of its noninvasive nature, it is a valuable aid in screening demented patients for treatable diseases.

Aged↗

Changes in contractile properties of skeletal muscle during developmentally programmed atrophy and death.

Skeletal muscle atrophy and death are protracted processes that accompany aging and pathological insults in mammals. The intersegmental muscles (ISMs) from the tobacco hawkmoth Manduca sexta are composed of giant fibers that undergo distinct hormonally-regulated programs of atrophy and death at the end of metamorphosis. Atrophy occurs during the 3 days preceding adult emergence and results in a 40% reduction of mass, whereas death takes place during the subsequent 30 h and results in the complete loss of the fibers. There are no significant changes in tetanic force or calcium sensitivity in skinned fiber preparations during atrophy. However, the size of caffeine-induced contractions fell by about 50%. With the onset of the death phase, dramatic reductions occur in ISM: tetanic force, twitch amplitude, resting potential, caffeine-induced contractions, calcium sensitivity, and Hill coefficients. Several lines of evidence suggest that ISM atrophy is caused by an increase in protein turnover without significant modification of fiber organization. In contrast, ISM death is accompanied by disorganization of the contractile apparatus and concomitant loss of contractile function.

Aging↗

Hereditary sensory neuropathy with deafness: a familial multisystem atrophy.

We report a 39-year-old woman with hereditary sensory neuropathy-type I (HSN-I) and deafness--Hicks' disease. The cochlea showed cell loss in the organ of Corti, and spiral ganglia and atrophy of acoustic nerves. Morphometric and quantitative studies of the ventral cochlear nucleus disclosed mild changes resulting from transynaptic atrophy. There was, however, neuronal as well as severe dendritic loss and gliosis in the auditory and sensory cortex that could not have been caused by their functional deprivation or have resulted from a chain reaction of transynaptic atrophy, since their corresponding lower relay nuclei did not display significant atrophy. The finding of cell loss and gliosis in the thalamus in nuclei that do not subserve these two pathways as well as in the red nuclei, inferiro olivary nuclei, and claustrum suggested that HSN-I with deafness is nosologically related to familial multisystem atrophy.

Adult↗

Ambulatory blood pressure and brain atrophy in the healthy elderly.

BACKGROUND: Brain lesions and atrophy increase with age and hypertension. OBJECTIVE: To evaluate the relationship of age and ambulatory blood pressure (BP) to brain atrophy in healthy elderly individuals. METHODS: MRI volume measurements (normalized to intracranial volume) were taken of total brain and lateral and third ventricles in 155 healthy men and women who went through extensive medical examinations. Younger (56 to 66 years old) and older (67 to 80 years old) subgroups were compared on casual and 24-hour ambulatory BP values and MRI volume measurements. RESULTS: Older subjects had smaller brain volumes and larger lateral and third ventricles. Compared with women, men had larger lateral and third ventricles. With age controlled for, greater sleep systolic BP (SBP) variability was associated with smaller brain volumes; greater waking and sleep SBP variability were associated with larger lateral and third ventricles. Subjects with higher casual and waking SBP and waking diastolic BP had larger lateral ventricles. Among older subjects, only those with elevated SBP had smaller brain volumes and larger lateral ventricles. CONCLUSIONS: These results indicate that if BP levels are within the upper normal range, even healthy individuals with no prior diagnosis of hypertension are more likely to have brain atrophy than those with lower BP. Moreover, not only do BP level and variability relate to brain atrophy, but the combination of high level and greater variability shows an even stronger relationship to brain atrophy than either one of these variables alone.

Aged↗

[Progressive hemifacial atrophy (Parry-Romberg disease): study of a case].

A caracteristic case of hemifacial progressive atrophy at right is reported. The patient was a man with 45 year-old. There were epileptic crisis at left too. Alterations observed in clinical-neurological examination are referred. In computadorized tomographic axial examination there were parietotemporal atrophy at left and frontal contrast hipercaptation at right. In EEG there were lentification at right and depression at left who was in concordance with the pathological alterations of the patient: atrophy and cortical depression at left with facial atrophy at right and lentification and contrast hipercaptation at right with epileptic crisis at left. EMG showed facial velocity conduction slowed at right. The authors believe in atrophy hemifacial progressive has been a disease which injuries central and peripheral nervous system at one time.

Electroencephalography↗

The relationship between cortical atrophy and ventricular volume.

Utilizing volumetric measures of brain morphology, the relationship between cortical atrophy and ventricular dilation was examined in a sample of 59 Alzheimer's Disease patients and 48 closed head injury patients. Correlation matrices were constructed and factor analyses performed in order to elucidate the various relationships. In the Alzheimer Disease sample there appeared to be a moderately strong relationship between cortical atrophy and ventricular volume. However, analyses also lent support to the position that cortical atrophy and ventricular dilation reflect processes which are related yet somewhat independent. Results obtained from the closed head injury sample indicated that focal damage effects were more evident in cortical atrophy measures, while generalized effects were relatively more important in ventricular dilation. Finally, the relationships between neuropsychological performance and various combinations of high and low cortical atrophy and ventricular volume measures were modest.

Adolescent↗

Active autoimmune gastritis without total atrophy of the glands.

To date, autoimmune gastritis has been diagnosed for the most part only when total atrophy of the oxyntic glands is detected. On the basis of 40 patients without total atrophy of the glands, and with parietal cell antibodies in the serum, we show that the diagnosis of type A gastritis is also possible in the pre-atrophic stage. The histological criteria for the diagnosis of active autoimmune gastritis without total atrophy of the glands are 1. usually dense, diffuse locally emphasized lymphocytic infiltration of the lamina propria between the glands in the oxyntic mucosa, 2. focal destruction of individual glands in the corpus of the stomach by lymphocytes, and 3. reactive pseudohypertrophy of the parietal cells. A comparison with a group of patients with autoimmune gastritis and total atrophy of the glands shows that in active autoimmune gastritis, too, women are more frequently affected than men (in both groups, the sex ratio is approximately 3:1). Patients without atrophy of the glands are, on average, about 12 years younger than those with "burnt out" type A gastritis (average age 69.98:57.80 years). While in the case of burnt out type A gastritis, no colonisation with Helicobacter pylori was to be found, such colonisation was demonstrated for the corpus mucosa in 22.5%, and for the antral mucosa in 15.0%. In 27.5% a minimal or low-grade inactive superficial gastritis, as may be seen after eradication of Helicobacter pylori, was additionally diagnosed in the antrum. A knowledge of the histological appearance of the pre-atrophic stage of type A gastritis might be of importance for the possible prevention of pernicious anaemia.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗

Gastric atrophy and intestinal metaplasia changes 8 years after Helicobacter pylori eradication. A blind, randomised study.

BACKGROUND: Chronic atrophic gastritis and intestinal metaplasia are regarded as predisposing factors for gastric cancer associated with Helicobacter pylori infection, and their severity appears to influence gastric cancer risk. Our purpose was to determine the outcome of chronic gastritis after H. pylori eradication in a long-term follow-up. METHODS: Fifty-four consecutive patients with duodenal ulcer and H. pylori infection were enrolled in the study. Endoscopic examination with antral and corporal biopsy was done at baseline and yearly after conventional eradication therapy (omeprazole 40 mg b.i.d., amoxocyllin 1 g b.i.d and clarithromycin 500 mg b.i.d.). Gastritis, atrophy, and metaplasia were graded according to the updated Sydney System. RESULTS: Twenty-four patients were successfully treated; infection persisted in 14 and 16 dropped out (during the first 5 years of follow-up). Inflammation and mean neutrophil activity significantly decreased in patients in whom H. pylori was eradicated. Glandular atrophy improved in 2 and disappeared in 5/17 patients, whereas intestinal metaplasia improved in 3 and disappeared in 2/12. In the patients in whom H. pylori persisted, inflammatory infiltrate, atrophy and intestinal metaplasia had not significantly decreased during follow-up. In contrast, glandular atrophy worsened in 2 and developed in 5/7 patients. Similarly, intestinal metaplasia did not improve when present and developed in 5/13 cases. CONCLUSIONS: In a long-term follow-up, H. pylori eradication does not affect glandular atrophy, but it seems to prevent the development of precancerous lesions such as intestinal metaplasia.

Journal Article↗

Experimental acute adult T cell leukemia-lymphoma is associated with thymic atrophy in human T cell leukemia virus type I infection.

Human T cell leukemia virus type I (HTLV-1) infection may lead to an acutely fatal adult T cell leukemia-lymphoma (ATLL), but HTLV-1-infected people usually remain asymptomatic. Why only certain HTLV-I infections lead to acute ATLL, which is characterized by leukemic infiltration of multiple organs and immune suppression, remains unknown. A readily accessible animal model in which the spectrum of consequences resulting from HTLV-I infection can be observed would greatly aid studies of this retrovirus. New Zealand White rabbits inoculated with either HTLV-1-infected CD25+ T cells or cell-free virus, were serially necropsied at different intervals after death or humane sacrifice. Tissues were preserved at necropsy or cultured in vitro and subsequently prepared for morphologic or molecular examination. Rabbits inoculated with RH/K34, a productively infected rabbit T cell line that contains a monoclonally integrated full-length HTLV-I provirus, developed acute ATLL-like biologically malignant lymphoproliferative disease with lymphocyte infiltration of viscera; lymphomas consisting primarily of monoclonal expansions of RH/K34 manifested a variety of diffuse pleomorphic histologic types. Concurrently, lymphoproliferative disease was associated with onset of thymic atrophy in the presence of rapidly increasing thymic proviral load. In contrast, rabbits given two other HTLV-1 inocula, originally derived (as was RH/K34) using the human T cell line MT-2 as virus source, also became infected but did not develop thymic atrophy or the ATLL-like disease. HTLV-1 infection, thymic atrophy, and leukemic infiltration similar to acute ATLL occurred reproducibly in a New Zealand White rabbit model independent of RH/K34 inoculum and host histocompatibility. Thymic atrophy in RH/K34-inoculated rabbits, but not in rabbits given other similar HTLV-1, was consistent with immunosuppression sufficient to prevent rejection of the inoculum. Although the short, 8-day course of the experimental ATLL precludes its having a molecular pathogenesis identical to the human condition, the systemic consequences of acute ATLL, including its association with thymic atrophy, are closely modeled.

Adult↗

Progressive hemifacial atrophy. A natural history study.

PURPOSE: To describe two very different natural history courses in 2 patients with hemifacial atrophy. Progressive hemifacial atrophy (Parry-Romberg syndrome, Romberg syndrome, PHA) is characterized by slowly progressive atrophy, frequently involving only one side of the face, primarily affecting the subcutaneous tissue and fat. The onset usually occurs during the first 2 decades of life. The cause and pathophysiology are unknown. Ophthalmic involvement is common, with progressive enophthalmos a frequent finding. Pupillary disturbances, heterochromia, uveitis, pigmentary disturbances of the ocular fundus, and restrictive strabismus have also been reported. Neurologic findings may be present, but the natural history and progression of ocular findings are often not described in the literature. METHODS: We studied the records and present findings of 2 patients with progressive hemifacial atrophy who were observed in our institution over a 10-year period. RESULTS: Both patients showed progression of ophthalmic findings, primarily on the affected side. One patient has had chronic uveitis with secondary cataract and glaucoma, in addition to retinal pigmentary changes. She also had a third-nerve paresis of the contralateral eye and mild seizure activity. The other patient had mild uveitis, some progression of unilateral retinal pigmentary changes, and a significant increase in hyperopia in the affected eye, in addition to hypotony at age 19 without a clear cause, but with secondary retinal and refractive changes. CONCLUSION: Ocular manifestations of progressive hemifacial atrophy are varied, but can progress from mild visual impairment to blindness.

Adult↗

[A case of progressive hemifacial and hemispheric atrophy with multiple hemi-intracerebral calcifications presenting with occipital lobe epilepsy].

A 30-year-old man with progressive hemifacial atrophy is described. He had right hemifacial atrophy and epileptic seizures first noted at the age of about 15 years. Examination revealed atrophy of the right half of the tongue, skin pigmentation in the right neck, grizzled hair on the right side of the head, and left upper temporal homonymous hemianopsia. CT and MRI revealed multiple intracerebral calcifications, and EEG showed spike discharges predominantly in the right occipital lobe, ipsilateral to the hemifacial atrophy. The epileptic seizures were associated with visual hallucinations that are characteristic of occipital epilepsy. A skin biopsy obtained from the pigmented region in the right neck showed chronic inflammatory changes consisting of severe atrophy of the epidermis, dermis, and fatty tissue, marked proliferation of collagen fibers, and perivascular infiltration by round cells and giant phagocytes. Previous descriptions on the pathogenesis of hemiatrophy of the face and brain were reviewed in relation to the present case.

Adult↗

Reliability of 4 outcome measures in pediatric spinal muscular atrophy.

BACKGROUND: Spinal muscular atrophy is a common neurologic disorder of infants and children with a high mortality rate. Clinical trials have not been attempted in this population until recently. OBJECTIVE: To demonstrate that 4 outcome measures are reliable for use in clinical trials in patients with spinal muscular atrophy. DESIGN, SETTING, PATIENTS: Thirty-eight children with spinal muscular atrophy who fulfilled inclusion and exclusion criteria were enrolled at 5 pediatric centers for a reliability study. Paired samples statistics were performed comparing results of the qualifying variance visit with a fourth visit. MAIN OUTCOME MEASURES: Quantitative muscle testing and the Gross Motor Function Measure. RESULTS: Thirty-four patients and 7 evaluators completed the study. Thirteen patients were aged 2 through 4 years and 21 were 5 through 17 years. The Gross Motor Function Measure was completed by 34 subjects. Six variables for pulmonary function tests were measured in 20 subjects. Quantitative muscle testing was performed on 21 subjects in 8 muscle groups. Thirty-three subjects completed the PedsQL Neuromuscular Module for Parents. The intraclass correlation coefficient and Bradley-Blackwood procedures indicated a very high level of agreement between measures. CONCLUSION: The Gross Motor Function Measure, pulmonary function tests, quantitative muscle testing, and quality of life are reliable outcome measures for clinical trials in pediatric spinal muscular atrophy.

Adolescent↗

Retinal and optic disc atrophy associated with a CACNA1F mutation in a Japanese family.

OBJECTIVE: To describe retinal and optic disc atrophy and a progressive decrease of visual function in 2 Japanese brothers. Both had a mutation in the CACNA1F gene, the causative gene of incomplete congenital stationary night blindness (CSNB). METHODS: We studied observational case reports and performed comprehensive ophthalmologic examinations including best-corrected visual acuity, biomicroscopy, ophthalmoscopy, fundus photography, and electroretinography. Genomic DNA was extracted from the peripheral blood, and all 48 exons of the CACNA1F gene were directly sequenced. RESULTS: The 2 brothers had retinal and optic disc atrophy and a progressive reduction of visual acuity with increasing age. Although these clinical features are not typical of previous patients with incomplete CSNB, both patients had an in-frame mutation with deletion and insertion in exon 4 of the CACNA1F gene. In both patients, the bright-flash, mixed rod-cone electroretinogram had a negative configuration, a characteristic of incomplete CSNB. However, the full-field scotopic and photopic electroretinograms were nonrecordable, indicating severe, diffuse retinal malfunction, which is not typical in incomplete CSNB. CONCLUSION: These findings indicate that a mutation of the CACNA1F gene may be associated with retinal and optic disc atrophy with a progressive decline of visual function. Clinical Relevance In patients with retinal and optic disc atrophy associated with negative-type electroretinograms, a CACNA1F gene mutation should be considered.

Amino Acid Sequence↗

Glaucomatous parapapillary atrophy. Occurrence and correlations.

Glaucomatous optic nerve damage is typically associated with intrapapillary changes, such as neuroretinal rim loss. In this study, parapapillary chorioretinal atrophy was evaluated in 691 normal eyes, 1081 glaucomatous eyes, and 31 eyes with ocular hypertension. It was significantly larger and occurred more often in the glaucomatous eyes (parapapillary atrophy area, 1.07 +/- 0.83 mm2) (mean +/- SD) than in the normal eyes (0.55 +/- 0.64 mm2) or in the eyes with ocular hypertension (0.55 +/- 0.37 mm2). These differences were significant also for eyes with moderate glaucomatous damage (0.86 +/- 0.62 mm2). Parapapillary chorioretinal atrophy was associated with shallow glaucomatous cupping, diffuse nerve fiber loss, a marked tessellated fundus, and only moderately elevated intraocular pressure. It increased with a decreasing neuroretinal rim area. It showed a spatial correlation to neuroretinal rim loss inside the optic disc. In unilateral glaucoma, it was larger in the affected eye than in the unaffected eye. Parapapillary chorioretinal atrophy is associated with glaucoma.

Adolescent↗

Assessment of quadriceps femoris muscle atrophy and hypertrophy in neuromuscular disease in children.

Midthigh muscle and subcutaneous tissue thickness were measured using a real-time linear array ultrasound scanner in 50 patients attending our Muscle Clinic; 28 had muscular dystrophy and 21 spinal muscular atrophy. In muscular dystrophy the muscle thickness was found to be normal or increased, whereas in spinal muscular atrophy it was reduced, with an associated increase in subcutaneous tissue thickness that did not relate to obesity. Measurement of muscle and subcutaneous tissue thickness provides a more accurate way of assessing muscle atrophy and hypertrophy than clinical assessment, and is a useful guide in the discrimination between muscular dystrophy and spinal muscular atrophy.

Atrophy↗

Brainstem reflexes in patients with olivopontocerebellar atrophy.

In 4 patients with familial olivopontocerebellar atrophy (OPCA) we have recently described an abnormal movement of facial muscles characterized by rhythmic muscle twitching during voluntary activation (facial action myoclonus). In the present article, we present the results of a neurophysiological study of brainstem reflexes in those 4 patients, in 4 other patients with OPCA but without facial action myoclonus, in 3 patients with pure cerebellar cortical atrophy, and in 6 normal volunteers used as control subjects. All patients had similar clinical features, but only the patients with facial action myoclonus and only one of the other patients with OPCA had brainstem atrophy detected on magnetic resonance imaging. Electrophysiological abnormalities were found in all patients with facial action myoclonus and consisted of myokymia in perioral muscles at rest, spread of spontaneous and reflex blinking to the orbicularis oris, and enhanced long-latency facial reflex responses to stimuli applied to the facial or trigeminal nerve. Other relevant electrophysiological abnormalities were the absence of jaw jerk in 2 patients, the absence of an R1 response of the blink reflex in 1 patient, and a markedly reduced compound muscle action potential of the facial nerve in another patient. Comparable electrophysiological abnormalities were found in only 1 of the patients with OPCA but without facial action myoclonus, and in none of the patients with pure cerebellar cortical atrophy. Facial action myoclonus is a clinical manifestation of a global brainstem functional derangement that may characterize a subgroup of patients with OPCA or constitute a distinctive step in the natural evolution of some forms of the disease.

Adult↗

[Selective atrophy of the radial peripapillary capillaries and visual field defects in glaucoma (author's transl)].

The existence and distribution of atrophic radial peripapillary capillaries in 33 autopsy eyes of patients with chronic glaucoma or different optic nerve atrophies are compared with their visual field defects and stage of atrophy or excavation of the disc. No correlation of defective RPC and visual field defects was found. The selective atrophy of RPC is therefore supposed to be secondary to different atrophies of the disc.

Atrophy↗

Ubiquitinated alpha B-crystallin in glial cytoplasmic inclusions from the brain of a patient with multiple system atrophy.

Glial cytoplasmic inclusions (GCIs) have been observed in oligodendroglia-like cells, specifically in the brains of patients with multiple system atrophy (striatonigral degeneration, olivopontocerebellar atrophy and Shy-Drager syndrome). We have investigated GCIs from brains of patients with multiple system atrophy biochemically and immunochemically. While most GCIs have been reported positive for both ubiquitin and alpha B-crystallin in immunocytochemical studies, the components of GCIs have not been identified biochemically. GCI-bearing cells were partially purified from the OPCA brain by sieving with nylon meshes and discontinuous sucrose density gradient centrifugation. The fraction containing GCI-bearing cells was also found to contain a 32 kDa and a 40 kDa protein, both of which were specifically recognized by anti-ubiquitin and anti-alpha B-crystallin antibodies, neither of which was found in the same fraction derived from control brain. These immunochemical results suggest that ubiquitinated alpha B-crystallin is present in GCIs from the brains of patients with multiple system atrophy.

Amino Acid Sequence↗