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Biomedical subjects

R L Carasso

Publications and source records attributed to R L Carasso.

At least 19 recordsLinked to original sources
PubMed2004

Onset and progression of disease in familial and sporadic Parkinson's disease.

Lately different and rare genetic forms of Parkinson's disease (PD) have been described. Complete genomic screening has suggested that still undefined multiple genetic factors might underlie the development of PD. The course of PD patients with and without genetic background might be different. We compared the age at onset and progression of PD with (FH) and without (NFH) family history. Two hundred forty PD patients attending the outpatient Movement Disorders Clinic were evaluated. The age of onset (AO), the duration of disease until stage III of Hoehn and Yahr (YST3), until dementia (YDEM) and family history of PD were determined by interview, examination of medical files and of affected family members. Patients with young onset who reported another PD patient among their siblings were tested for parkin mutations. Statistical analysis used ANOVA, Fisher's Least Significant Difference, log-rank and Wilcoxon's tests for Kaplan-Meier survival curves taking stage III and dementia as end-points. Of the 240 patients (age 73.3 +/- 10.9 years), 29 (12%) had positive FH. Six of them carried parkin mutations. The AO was 33.5 +/- 8.1 (range 19-42) years for parkin carriers, 59.3 +/- 11.3 (range 34-76) for FH and 66.5 +/- 11.8 (27-91) years for NFH (P < 0.0001). The three groups were significantly different from each other (alpha = 0.05). Stage III and dementia were reached only in non-parkin patients. YST3 was 12.6 +/- 6.6 years for FH and 6.5 +/- 5.0 years for NFH (P < 0.0001). YDEM was 10.1 +/- 6.0 years for FH versus 4.7 +/- 4.5 years for NFH (P = 0.002). Kaplan-Meier survival analysis revealed faster motor (P = 0.0016) and mental decline (P = 0.02) in NFH versus FH. Our results showed that the AO of PD is younger in patients with FH. Motor and mental deterioration, however, showed a less steep course in familial PD patients.

Age of Onset↗
PubMed2001

Parkin gene causing benign autosomal recessive juvenile parkinsonism.

Autosomal recessive juvenile parkinsonism (AR-JP) is an early-onset parkinsonism caused by exonic deletions or point mutations in the parkingene. The relationship between the type of the genetic defect and the clinical presentation, the response to therapy, and the evolution have not been yet determined. The authors describe a single-basepair deletion at nucleotide 202 in exon 2 of the parkin gene in a kindred with a benign clinical course.

Adolescent↗
PubMed2000

Oculopharyngeal MD among Bukhara Jews is due to a founder (GCG)9 mutation in the PABP2 gene.

OBJECTIVE: To determine whether all cases of oculopharyngeal muscular dystrophy (OPMD) among Bukhara Jews share the same founder mutation. BACKGROUND: Autosomal dominant OPMD is caused by a (GCG)8-13 repeat expansion in the polyadenylation binding protein 2 (PABP2) gene. The disease has a worldwide distribution but is particularly prevalent in Bukhara Jews and in French Canadians, in whom it was introduced by three sisters in 1648. METHODS: We established the size of the PABP2 mutation in 23 Bukhara Jewish patients belonging to eight unrelated families. In all families, we constructed haplotypes for the carrying chromosomes composed of the alleles for eight chromosome 14q polymorphic markers. RESULTS: All patients share a (GCG)9 PABP2 mutation and a four-marker haplotype. Furthermore, a shared intron single nucleotide polymorphism (SNP) in the PABP2 gene 2.6Kb from the mutation was not observed in 22 families with (GCG)9 mutations from nine different countries. The smaller size of the chromosomal region in linkage disequilibrium around the mutation in Bukhara Jews, as compared with French Canadians, suggests a founder effect that occurred more than 350 years ago. Based on the Luria-Delbrück corrected "genetic clock," we estimate that the mutation appeared or was introduced once in the Bukhara Jewish population between AD 872 and 1512 (mean, AD 1243). CONCLUSION: OPMD among Bukhara Jews is the result of a shared, historically distinct, PABP2 (GCG)9 mutation that likely arose or was introduced in this population at the time they first settled in Bukhara and Samarkand during the 13th or 14th centuries.

Genetic Linkage↗
PubMed2000

Fatty acid mixture counters stress changes in cortisol, cholesterol, and impair learning.

A mixture of linoleic and alpha-linolenic acids (free non-esterified unsaturated fatty acids) administered for 3 weeks prior to injection of cortisol (10 mg/kg), or prior to immersion of rats in a 10 degree C saline bath, prevented elevation of blood levels of cortisol and cholesterol and deficits in Morris water maze spatial learning that usually accompany such stressful conditions. Differences from controls on all behavioural and biochemical measures were statistically significant (P < .05). It is proposed that induction of intense stress, and the associated increase in cortisol, cholesterol and other corticosteroids may damage hippocampal structures and help account for the cognitive decline witnessed in Alzheimer's disease and other age-related conditions. The modulation of these consequences by the fatty acid mixture may provide an alternative strategy for the study of stress markers and for the development of other intervention options in humans.

Animals↗
PubMed1999

Autosomal-recessive juvenile parkinsonism in a Jewish Yemenite kindred: mutation of Parkin gene.

We report a Jewish family of Yemenite origin in which three brothers born from a consanguineous marriage had juvenile parkinsonism. The DNA samples from three affected brothers and one healthy brother were analyzed for the linkage to markers covering the autosomal-recessive juvenile parkinsonism (AR-JP) locus. A perfect homozygous cosegregation to the markers was found, giving a maximal lod score of 3.11 at D6S1579, D6S305, and D6S411, all of which are 0 cm apart from each other (nonparametric linkage score, 8.041; p = 0.000977). Exon 3 of the Parkin gene was homozygously deleted in all patients. The AR-JP gene also exists in the Jewish population.

DNA↗
PubMed1998

Fatty acids and brain peptides.

The role of fatty acids (FA) as a mediator and modulator of central nervous system activity in general, and peptides in particular, is only recently becoming understood. This paper reviews numerous findings concerned with the activity of fatty acids, particularly with their interaction with diverse neurochemical systems and their consequences for better understanding neurotransmitters, hormones and peptides. The effects include FA as precursors in the manufacture of neurochemical elements, including enzymes, neurotransmitters, and hormones. Of particular interest is the important changes in neuronal membrane composition that have been attributed to FA. Such changes may account for the changes in thermoregulation, learning, and other functions that accompany dietary manipulation of FA intake. While the total level of FA has been the object of many investigations, this report addresses the need to focus on the ratio of FA, especially alpha-linolenic/linoleic acid, which has been shown to be a critical factor in a number of research studies.

Animals↗
PubMed1998

[Attitudes of family physicians to alternative medicine].

80 Israeli family physicians (51.25% men and 48.75% women) participated in a telephone survey concerning attitudes, practices and experience with alternative medicine. 23.75% reported practicing 1 or more alternative techniques, most commonly acupuncture (28%) and hypnotherapy (24%). 55% had referred at least 1 patient to an alternative practitioner during the preceding month. Physicians who studied in Israel or Western countries referred more patients than graduates of medical schools of Eastern Europe. Specialists referred patients more often than residents. The most common reason for referral was back pain.

Acupuncture Therapy↗
PubMed1997

Epidemiology and inheritance of oculopharyngeal muscular dystrophy in Israel.

Oculopharyngeal muscular dystrophy (OPMD) is considered frequent among French Canadians. Our previous observations suggested it is common also among the Jews originating from Bukhara in Uzbekistan, many of whom are now living in Israel. One hundred and seventeen OPMD patients were identified in a population of 70,000 people of Bukharian descent, resulting in a calculated minimal prevalence of 1:600. In all but three families age dependent autosomal dominant inheritance was documented. There is some evidence for genetic anticipation. Three young, severely ill, patients from two different families may be homozygotes, their parents being both affected. Bukhara Jews present the second largest known cluster and the prevalence is the highest in the world. The existence of very large families, intermarriage among carriers and probably homozygote offspring may be useful for genetic studies. A 'founder effect' may explain the high prevalence of OPMD in this population.

Adult↗
PubMed1996

Essential fatty acids preparation (SR-3) improves Alzheimer's patients quality of life.

In a number of previous reports we showed the salutary effects on rats of SR-3, a compound comprising a 1:4 ratio of n-3 and n-6 fatty acids. Improvements were noted in learning tasks, thermoregulation, recovery from neurotoxins, and seizure protection. Because we were impressed that these effects are related to changes in membrane fluidity and neuronal functioning and because Alzheimer's Disease is also associated with lipid defects, we undertook a short term (4 week) double blind study with 100 Alzheimer patients (60 received SR-3 and 40 in a placebo control). The results indicated improvements in mood, cooperation, appetite, sleep, ability to navigate in the home, and short term memory. Overall improvement was reported for 49 patients, and in no case did a guardian report adverse effects to the compound. While not uniform or permanent, and while no mode of action for SR-3 can be precisely identified at this time, the promising results in quality of life for the patient and caregiver warrant further clinical trials and continued basic research into the neuropsychological substrate of the disease and its response to SR-3.

Activities of Daily Living↗
PubMed1994

Essential fatty acid preparation (SR-3) raises the seizure threshold in rats.

The anticonvulsant properties of a mixture of non-esterified alpha-linolenic acid and linoleic acid with a ratio of 1:4 (SR-3) were evaluated in four rat models of epileptic seizures: (1) i.p. injection of a single convulsant dose (50 mg/kg or 100 mg/kg) of pentylenetetrazol; (2) repeated subconvulsant doses of pentylenetetrazol; (3) cortical irritation by intraventricular administration of iron chloride (FeCl3); and (4) audiogenic seizure-prone preparation created by repeated pretreatment with p-cresol. Treatment with SR-3 (about 40 mg/kg i.p.) for a period of 3 weeks prior to challenge was found effective in each of these experimental models and caused up to a 22-fold increase in latency to major motor seizures, up to 84% reduction in the number of rats with seizures, and up to a 97% reduction in the duration of seizures. It is postulated that the anticonvulsant effects of SR-3 may be related to its stabilization of neuronal membranes. SR-3 should be evaluated further as a treatment for epilepsy.

Acoustic Stimulation↗
PubMed1993

Modulation of learning, pain thresholds, and thermoregulation in the rat by preparations of free purified alpha-linolenic and linoleic acids: determination of the optimal omega 3-to-omega 6 ratio.

Ingested polyunsaturated fatty acids are postulated to lead to changes in central nervous system activity, presumably by altering the lipid composition of neuronal membranes. In support of this hypothesis, we and other investigators have previously demonstrated cognitive effects in rats fed oils that contain both alpha-linolenic acid (18:3 omega 3) and linoleic acid (18:2 omega 6), with the relative content of alpha-linolenic acid being seen as the critical variable. The present study in rats examined the effects of preparations containing different ratios of highly purified free alpha-linolenic acid to linoleic acid (about 25 mg/kg of body weight daily) on learning performance (Morris water tank), pain thresholds (heated plate), and thermoregulatory control of d-amphetamine-induced hypothermia during 4 weeks of treatment. Preparations with omega 3-to-omega 6 ratios ranging from 1:3.5 to 1:5 (specifically a ratio of 1:4) produced significant favorable effects on all of these variables. Although the specific mode of action remains to be elucidated, these results suggest that such preparations of free fatty acids should be evaluated in the treatment of memory disorders and pain conditions.

Animals↗
PubMed1991

The effect of pain on pentylenetetrazol induced seizures.

Repeated administrations of subconvulsive doses of pentylenetetrazol (PTZ) leads to frank convulsions. The number of injections required to bring about such an effect is taken as an index of seizure vulnerability, and was studied in normal rats. This study examined the effect of pain induced by formaline injection or placement on a hot plate on seizure elicitation. The results could be accounted for by the role of arousal and/or endogenous opiates that are generated by the pain induction procedures, wherein the pain appears to provide some elevation of the threshold for seizure vulnerability.

Animals↗
PubMed1988

DSIP--a tool for investigating the sleep onset mechanism: a review.

Delta-Sleep-Inducing Peptide (DSIP) has several physiological effects in addition to its ability to promote sleep in animals under certain conditions. These effects include modification in thermoregulation, heart rate, blood pressure, pain threshold, and in the lymphokine system. DSIP effects are circadian cycle-dependent. Moreover, some of DSIP effects appear before neurological or behavioral signs of sleep. DSIP may promote peripheral preparatory physiological mechanisms associated with sleep onset.

Animals↗
PubMed1988

The circadian cycle effects of DSIP on colonic temperature, blood pressure, and heart rate in control and area postrema-lesioned rats.

Groups of control and Area Postrema rats were treated with 0.1 mg/kg, i.p., DSIP or with saline, at 06:00, 09:00, 12:00, 15:00, 18:00, 21:00, 24:00, and at 03:00. Colonic temperature, blood pressure, and heart rate were measured 30 min after treatment. DSIP induced a shift in the hyperthermic cycle of control rats, but was unable to modify the noncyclic hypothermia found among Area Postrema-lesioned rats. Furthermore, DSIP caused a decrease in the blood pressure level of control rats, but had no such effect on the already depressed level of blood pressure in the Area Postrema-lesioned rats. Finally, DSIP decreased the heart rate of control rats and significantly antagonized the elevated heart rate observed in the Area Postrema-lesioned rats. The data do not permit us directly to relate the physiological change induced by DSIP to its sleep-promoting effects.

Analysis of Variance↗