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PubMed1986

Progressive multiple sclerosis: abnormal immune functions in vitro and aberrant correlation with enumeration of lymphocyte subpopulations.

In a series of 27 consecutive progressive multiple sclerosis (MS) patients under age 50 we have simultaneously measured 3 in vitro immune functions and 6 markers and compared their results to a group of 21 controls. We have confirmed a reduction of concanavalin A (Con A) -induced suppression and NK function contrasting with increased IgG secretion in response to pokeweed mitogen (PWM). Among 6 monoclonal antibody-recognized subpopulation (Leu 1, Leu 2, OKT8, Leu 3, Leu 7 and Leu 11) only Leu 2+ lymphocytes were statistically reduced. OKT8+ were slightly reduced, Leu 3+ were slightly increased. Discriminant analysis revealed that the 3 immune functions together with the results of OKT8 and Leu 3 enumeration were sufficient to appropriately classify most of the individuals. Only 3 MS and 4 controls were misclassified. Correlation analysis suggested disappearance of the doubly labelled OKT8/Leu 7 population in MS patients. In MS as opposed to controls Con A-induced suppression did not correlate with suppressor cell markers but correlated with NK cell markers suggesting that in MS this population mediates Con A-induced suppression. IgG secretion and Con A suppressor cell function were inversely correlated in MS patients but not in controls, suggesting that in chronic progressive multiple sclerosis a common abnormality underlies both increased response to PWM and decreased induction of suppression by Con A.

Adult↗
PubMed2003

Evolution of focal and diffuse magnetisation transfer abnormalities in multiple sclerosis.

Magnetisation transfer (MT) imaging provides indirect information on tissue structure abnormalities in areas that otherwise may appear normal on conventional MRI. We determined the evolution of MT changes in normal appearing white matter (NAWM) and lesion on serial examination of 9 multiple sclerosis (MS) patients and age matched controls. The mean NAWM MT ratio (MTR) was found to correlate strongly (R = 0.93) with the length of time since the patient's first clinical presentation and was well characterized by a linear decrease of -0.16%/year (p < 0.0001). The time zero intercept of the NAWM MTR regression was 30.7 +/- 0.2%, not different from the average MTR of white matter from controls (30.4 +/- 0.2 %). An additional gradual decrease in NAWM MTR was observed 6 to 12 months before the appearance of a new lesion on conventional MRI, while a more precipitous decrease in MTR was seen 2 to 6 months before the lesion appeared. Those lesions that exhibited pre-lesion MTR decreases showed less MTR recovery than lesions which had no pre-lesion MTR decrease. The data suggest that the MTR of NAWM in MS undergoes a slow progressive decrease that starts at disease onset and accelerates rapidly in focal areas just prior to lesion appearance on conventional MRI.

Adult↗
PubMed1989

Cognitive and psychiatric abnormalities in multiple sclerosis.

In multiple sclerosis, behavioral changes, including alterations in cognitive functions and psychiatric abnormalities, have been recognized with increasing frequency in recent years. Multiple sclerosis formerly was thought to be primarily a disorder of the brain stem and spinal cord; however, functional changes that can be attributed, at least in part, to cerebral dysfunction are being recognized. Certain cognitive functions such as memory and conceptual processes seem to be preferentially impaired. The degrees of impairment of other functions such as attention and visuospatial skills are now being evaluated. Psychiatrically, affective disorders seem to be the most common diagnoses, and debate exists about whether these abnormalities are a function of the demyelinating process itself or are a reaction to the disability produced by the disorder.

Dementia↗
PubMed1980

Visual field abnormalities in multiple sclerosis.

Visual fields were examined with a tangent screen in 54 patients with multiple sclerosis (MS) or optic neuritis (ON). Visual fields were abnormal in all patients with definite MS, 94% with probable MS and 81% with possible MS. Three-quarters of the MS patients with no history of visual symptoms had abnormal fields. The commonest defect found was an arcuate scotoma. As a diagnostic test of visual pathway involvement in MS, tangent screen examination compares favourably with more sophisticated methods.

Adult↗
PubMed1996

Multiple genetic abnormalities of 11p15 in Wilms' tumor.

Wilms' tumor has served as a model of multiple genetic alterations in childhood cancer. This review summarizes work in our laboratory identifying several of these alterations. These include the localization to 11p15 of an embryonal tumor suppressor gene and at least one gene for Beckwith-Wiedemann syndrome, which predisposes to Wilms' tumor; as well as a novel mutational mechanism in man, loss of imprinting.

Beckwith-Wiedemann Syndrome↗
PubMed1995

Sympathetic skin response (SSR) is abnormal in multiple sclerosis.

As the function of the autonomic nervous system is often compromised in multiple sclerosis (MS), different standardized tests are used to detect disseminated abnormalities in cardiovascular autonomic functions. sympathetic skin response (SSR), a slow wave generated in deep layers of the skin, is induced by reflex activation of sudomotor sympathetic efferent fibers. SSR was studied in 70 patients classified into different categories according to the diagnostic criteria for MS. We also obtained pattern reversal visually evoked potentials and brainstem auditory evoked potentials as well as somatosensory evoked potentials (by median and posterior tibial nerve stimulation). SSR was abnormal in 66 patients (94.2%), including abnormal foot latency with normal hand latency in 30 (42.8%), delayed foot and hand latencies in 30 (42.8%), and no response in 6 (8.6%). The percentages of SSR abnormalities were similar in the different patient categories. Pathological SSR were more common than abnormal evoked potentials in suspected and probable MS. SSR appears to be a simple and effective means of assessing sympathetic sudomotor outflow disturbances in MS, providing a valuable addition to current electrophysiological procedures for the detection of MS lesions.

Adult↗
PubMed1994

Multiple symmetric lipomatosis: abnormalities in complex IV and multiple deletions in mitochondrial DNA.

Multiple symmetric lipomatosis (MSL) is a rare disorder of middle life characterized by large nonencapsulated lipomas distributed around the neck, shoulders, and other axial regions. Neurologic involvement, particularly peripheral neuropathy, is frequent. The pathogenesis of the syndrome is still unknown, but ragged-red fibers are occasionally present in muscle of affected patients, suggesting a mitochondrial abnormality. We studied 11 unrelated patients with MSL by means of neurophysiology, muscle morphology, muscle biochemistry, Southern blot, and PCR analysis of mitochondrial DNA. All patients were men aged 41 to 63 years. Clinical or electrophysiologic signs of a sensorimotor polyneuropathy were present in nine patients, eight of whom had a history of alcoholism. In muscle biopsy specimens, the most prominent feature was pathologic subsarcolemmal aggregates of mitochondria. Biochemical analysis of respiratory chain enzymes revealed a moderate but significant decrease of cytochrome c oxidase activity as compared with age-matched controls. In one patient, Southern blot analysis showed multiple deletions of mitochondrial DNA. We conclude that mitochondrial dysfunction is common in MSL and may be based on identifiable defects in the mitochondrial genome.

Adult↗
PubMed1982

Neurourologic abnormalities in multiple sclerosis.

Multiple sclerosis is a demyelinating disease of the central nervous system, often producing abnormalities in sexual function and urinary control. Eighty-six patients with this disorder were referred to our neurourologic facilities for evaluation (45 women and 41 men). Symptomatic voiding dysfunction was present in 84 patients (97 per cent). Sexual dysfunction was present in 29 of the 41 men (71 per cent). Neurourologic evaluation was performed by rapid-fill carbon dioxide cystometry and perineal floor needle electromyography. Several neurourologic patterns were identified in multiple sclerosis patients: the most common cystometry pattern was detrusor hyperreflexia (76 per cent) and the most common electromyography finding was vesico-sphincter dyssynergia (50 per cent). Voiding symptoms alone were not found to correlate with neurourologic findings. The presence of bilateral extensor plantar reflexes was found to indicate the possibility of vesico-sphincter dyssynergia. The addition of sacral-evoked responses to the neurourologic evaluation was useful in the identification and localization of occult sacral cord pathology and was of special significance to men with sexual dysfunction undergoing evaluation for neurogenic impotence. The combination of abnormal perineal electromyography, abnormal sacral latency and detrusor hyperreflexia was suggestive of multilevel spinal cord dysfunction and, possibly, has diagnostic as well as therapeutic significance. Neurourologic patterns were found to change in 4 of 9 patients re-evaluated because of symptom changes or poor treatment responses. Neurourologic testing in multiple sclerosis patients may be used to identify pathologic lesions, characterize sexual and voiding dysfunctions, corroborate neurologic diagnosis in doubtful cases and form a basis for rational treatment planning.

Adult↗
PubMed1989

Complement abnormalities in multiple myeloma.

PURPOSE: Patients with multiple myeloma have been shown to have defective opsonization and C3 deposition. Previous studies have suggested that defective C3 deposition may be related to a failure of C3 activation in myeloma serum, the mechanism of which is unknown. We therefore decided to investigate the underlying mechanism responsible for the failure in C3 activation and deposition. PATIENTS AND METHODS: The study consisted of 10 patients from whom a total of 12 serum specimens were obtained. Normal serum was prepared from a pool of serum specimens in four healthy male donors. We evaluated, in vitro, the kinetics of C3 deposition onto zymosan using radiolabeled C3 under various conditions. We also measured the serum levels of a variety of complement components using standard methods. RESULTS: Five of 10 patients' sera demonstrated poor C3 deposition onto zymosan at all time points, whereas an additional two showed poor C3 deposition at early time points but a rebound to normal by 30 minutes. Multiple components of the classical and alternative complement pathways were decreased in many patients, with the most striking abnormalities occurring in those with the poorest C3 deposition. No single complement component abnormality was found to be common to the group. Elevations in Bb fragment concentration strongly suggest in vivo activation as the likely mechanism for depletion of alternative pathway components; the mechanism for classical pathway abnormalities is less clear. There was an inverse correlation between paraprotein concentration and abnormal C3 deposition (p less than 0.0001) and C3 (p less than 0.0005) and C4 (p less than 0.0001) concentrations. However, no consistent evidence of fluid-phase complement consumption was present. CONCLUSION: The defect in C3 activation and deposition in multiple myeloma cannot be explained on the basis of a single complement component abnormality but rather is due to a heterogeneous group of complement abnormalities. Although no correlation between in vitro abnormalities and clinical status was identified in this small group of patients, it is likely that the described complement defects play an important role in defective host defense in multiple myeloma.

Complement Activation↗
PubMed1996

47 XXY/46 XY mosaic Klinefelter's syndrome presenting with multiple endocrine abnormalities.

We report here a rare case of 47 XXY/46 XY mosaic Klinefelter's syndrome associated with multiple endocrine disorders. A 35-year-old male admitted for the evaluation of renal dysfunction and recurrent bone fractures was diagnosed as having Klinefelter's syndrome by endocrinological examinations and sex chromosome analysis. He has suffered from diabetes mellitus for more than ten years. The serum FSH and LH levels were high together with low free testosterone and estradiol levels. There was a discrepancy between basal serum GH and somatomedin-C levels. On admission, thyroid function revealed thyrotoxicosis with low radioactive iodine uptake and negative thyroid autoantibodies. During hospitalization, serum FT3 and FT4 levels were gradually decreased and serum TSH levels became elevated, leading to the diagnosis of subacute thyroiditis. Serum ACTH levels showed high basal levels with delayed, exaggerated responses to insulin-induced hypoglycemia. Rapid ACTH test (1-24ACTH 0.25 mg) showed low cortisol responses and many of the adrenocortical steroids in plasma and urine were low or low normal. Furthermore, bone mineral density (BMD) by DEXA showed marked osteoporosis. Possible mechanisms underlying these varied endocrine disorders remain to be elucidated.

Adult↗
PubMed2006

Proteus syndrome with multiple genitourinary abnormalities.

Proteus syndrome is a rare hamartomatous disorder comprising a broad spectrum of congenital malformations and overgrowth of multiple tissues. Some rare urogenital malformations have been reported before. This case is unique for the presence of multiple genitourinary anomalies including retroperitoneal cystic mass, intra-abdominal testicle with hematoma and ureterovesical stricture apart from common clinic findings of proteus syndrome.

Humans↗
PubMed1983

Multiple skeletal familial abnormalities associated with balanced reciprocal translocation 2;8(q32;p13).

A father and three of his offspring had skeletal abnormalities consisting of a short forearm, cubitus valgus, fusion of first and second cervical vertebrae, and cleft of L5 and S1. All four had a reciprocal, apparently balanced, translocation 2;8(q32;p13). Normal sibs had normal chromosomes. We conclude that this may be a rare instance of an autosomal dominant condition associated with a balanced chromosome translocation.

Abnormalities, Multiple↗
PubMed1984

[Hemiplegia during carbon monoxide poisoning revealing multiple cerebral artery abnormalities including the hypoglossal artery].

Hemiplegia after carbon monoxide (CO) poisoning is rare since only 9 such lesions have been reported from among 1480 cases of poisoning. The patient reported was a 43 year-old man with a left hemiplegia with coma following CO poisoning. Right carotid angiography demonstrated a hypoglossal artery supplying both posterior cerebral arteries. Left carotid angiography showed a dolichocarotid artery supplying the territories of the anterior and middle cerebral arteries on both sides. Complete regression of the hemiplegia occurred after 2 months following rapid administration of hyperbaric oxygen. Normal CT scan images and cerebral blood flow rates on follow-up examination suggest that the left hemiplegia was due to the combined effects of arterial anomalies and CO poisoning.

Abnormalities, Multiple↗