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Biomedical subjects

A Blumenfeld

Publications and source records attributed to A Blumenfeld.

At least 37 records · Page 2Linked to original sources
PubMed1997

Progressive dystonia with optic atrophy in a Jewish-Iraqi family.

The combination of progressive dystonia and optic atrophy is extremely rare and its morphological, metabolic and genetic basis is unknown. In a family of 9 children (8 males) born to consanguineous Israeli-Jewish-Iraqi parents, we identified four brothers who developed the syndrome at the end of the first decade. Patients had hemi or bilateral dystonia associated with striatal, mainly putaminal, atrophy on CT and MRI, various degrees of optic atrophy, minimal corticospinal tract involvement, normal intelligence and no peripheral nervous system or systemic abnormalities. No causative metabolic defect was identified. None of the several known mitochondrial DNA mutations associated with Leber's hereditary optic neuropathy (LHON) or with LHON with dystonia were detected. Likewise, linkage to the idiopathic torsion dystonia region on chromosome 9q34 was excluded. It is suggested that this in our patients might be due to a yet unidentified genomic, autosomal recessive mutation.

Adolescent↗
PubMed1997

[ATLS course in emergency medicine for physicians?].

Implementation of Advanced Trauma Life Support (ATLS) skills among practicing physicians and its perceived utility in their civilian practices, as well as in their potential army combat assignments, was evaluated. 177 physicians in various subspecialties, who were graduates of ATLS training courses, answered a specially designed telephone questionnaire. An unexpectedly high percentage of physicians (47%) had used their ATLS training when called to treat trauma victims. 67% of physicians stressed the contribution of the ATLS course to enhancing their skills. We believe that a properly designed ATLS course for general practitioners would be very beneficial for trauma victims.

Clinical Competence↗
PubMed1997

Frequent loss of chromosome 14 in atypical and malignant meningioma: identification of a putative 'tumor progression' locus.

Formation of meningiomas has been associated with the loss of genetic material on chromosome 22. To approach the additional chromosomal events that underlie progression of these tumors to malignancy, we have examined several other chromosomal regions for loss of heterozygosity (LOH) in these tumors. Fifty-eight tumors, comprising 43 benign meningiomas, 11 atypical meningiomas and four malignant meningiomas, were examined. While the loss of chromosome 22 was seen in approximately half of all these tumors, regardless of their malignancy, the most frequent chromosomal losses observed in the malignant and atypical tumors were on the long arm of chromosome 14. Thirty-nine tumors were informative for at least one of the three markers on chromosome 14 that we tested. Of these, 7/14 malignant and atypical tumors showed LOH in contrast to only 1/25 benign tumors. Other loci that showed LOH in malignant tumors, although at a much lower frequency, were on chromosomes 17p and 1p. The high frequency of LOH for loci on chromosome 14q in atypical and malignant tumors suggests the presence of a tumor progression gene at this locus. In one of the malignant meningiomas heterozygosity was lost at D14S13 and D14S16 but retained at the proximal marker D14S43 as well as the more distal marker D14S23. This suggests that an interstitial deletion occurred in this tumor which should be useful for further refining the position of the putative tumor progression locus.

Chromosome Deletion↗
PubMed1997

Intrafamilial heterogeneity of movement disorders: report of three cases in one family.

We report three members of a single family with an apparently autosomal dominant, nonparoxysmal, hyperkinetic movement disorder with onset in adolescence. The proband, a 56-year-old woman, manifested dystonia, tremor and myoclonus; one of her daughters exhibited myoclonus with tremor, and the other demonstrated myoclonus with chorea later accompanied by tremor and dystonia. The slowly progressive but not debilitating symptoms were restricted to the head, arms and hands and were only moderately affected by alcohol. Laboratory investigations failed to identify any abnormality, and linkage analysis excluded the region containing the DYT1 locus, indicating that the gene responsible for idiopathic torsion dystonia was not implicated in this family. While this disorder shares manifestations with myoclonic dystonia, essential myoclonus and benign chorea, the marked intrafamilial heterogeneity and the sex-limited phenotype expressed only in females of two generations appear to be unique.

Adolescent↗
PubMed1997

Prehospital cricothyroidotomy by physicians.

To evaluate cricothyroidotomy in the field and the influence of physicians' medical specialty or previous experience on the success rate of this procedure, a retrospective study was conducted. Between October 1991 and April 1995, 29 cricothyroidotomies were performed in the prehospital setting in Israel. Twenty-six (89.6%) cricothyroidotomies were successfully performed. There was no evidence of higher success rate when the performers were surgeons, anesthesiologists, or intensive care specialists (100% success), compared to that of all other specialties (83.33%). All physicians had successfully completed the Advanced Trauma Life Support (ATLS) course, but only three had previously performed cricothyroidotomy. Acute complications included failure to establish an airway in 3 cases, minor bleeding in 2 cases, and an air leak around the cannula in 1 patient. These results show that following brief training (eg, the ATLS course) physicians are capable of performing emergency cricothyroidotomy in the field with a high success rate and minimal complications, regardless of medical specialty.

Adult↗
PubMed1997

Infantile hemangioendothelioma of the ovary: a monodermal teratoma or a neoplasm of ovarian somatic cells?

Vascular tumors of the female genital tract are uncommon, and only a few cases have been reported in the ovary. We describe herein, an unusual tumor of the ovary: infantile hemangioendothelioma (cellular hemangioma of infancy) in a newborn. The tumor consisted of well-formed blood vessels and proliferating endothelial cells that were arranged in solid cordlike structures. The tumor permeated the ovarian stroma and entrapped normal ovarian follicles. By immunohistochemistry the neoplastic cells expressed factor VIII, CD34, and alpha smooth-muscle actin, and ultrastructurally they had the features of endothelial cells that were focally associated with pericytes. We examined simple sequence repeat (SSR) polymorphic markers in the tumor tissue, as well as in the patient's and parents' blood. The informative SSR markers were found to be identical in the tumor and in the patient's somatic cells. We suggest that the tumor described herein is a congenital infantile hemangioendothelioma arising from ovarian parenchymal cells rather than a teratoma originating from germ cells. A similar morphologic lesion has been described recently in the ovary and interpreted as monodermal teratoma composed of vascular tissue.

Actins↗
PubMed1997

The accumulated experience of the Israeli Advanced Trauma Life Support program.

BACKGROUND: Between January 1990 and May 1995 one faculty in Israel taught Advanced Trauma Life Support (ATLS) courses to 3,700 physicians. Two types of courses were given to three subpopulations. We studied the influence of demographic variables on students' achievements in the course and compared students' achievements as a function of their course type. STUDY DESIGN: This study was conducted as a concurrent longitudinal study. RESULTS: Achievements of 3,700 students were analyzed. The precourse grade, type of course, and their interaction were found to have a significant effect on the postcourse grades. Physicians practicing surgical subspecialties, in general, did better, as did students educated in English-speaking countries. Students who took part in the Combat Trauma Life Support (CTLS) course, which included the entire ATLS course and additional lectures and exercises, also ended with better scores. CONCLUSIONS: Physician's country of origin and clinical subspecialty have a significant effect on the cognitive achievement in the ATLS course provided in Israel. An expanded ATLS course (CTLS), to include additional military trauma topics as well as additional skill station training, can improve the results of the postcourse grades.

Adult↗
PubMed1997

Combat trauma life support training versus the original advanced trauma life support course: the impact of enhanced curriculum on final student scores.

BACKGROUND: Within a military framework, the trauma course student, a young medical officer, is trained to become a trauma team leader and the first provider of medical aid. By adding battlefield medicine-related subjects to the basic Advanced Trauma Life Support (ATLS) course, as well as exercises tailored to the distinctive demands of military medicine, we could develop a special teaching unit: Combat Trauma Life Support (CTLS). The curriculum is basically the complete unchanged ATLS course of the American College of Surgeons enriched with lectures and practicums to fill the gap between the essentially civilian emergency department character of the ATLS course and the military tasks of the medical officer. PURPOSE OF STUDY: To compare the cognitive knowledge achievements of trauma course participants in the Israel Defence Force Medical Corps and to delineate the impact of the course type on students' written test results. DESIGN: A retrospective comparison analysis of pre- and post-course written test scores of 2,614 physicians who had participated in the ATLS and CTLS courses in the Israel Defence Force School of Military Medicine between 1990 and 1993. RESULTS: The analysis indicated that students who undertook the CTLS course achieved statistically better results in written tests (87.9 +/- 8.7 vs. 79.6 +/- 11.4, R2 = 0.33). CONCLUSIONS: We conclude that the CTLS comprehensive curriculum provides an improved training basis for the complex task of army battlefield trauma care support.

Curriculum↗
PubMed1996

[Coniotomy: surgical airway management in trauma before hospitalization].

To assess the efficacy of prehospital coniotomy (cricothyrotomy), information regarding all coniotomies performed by military physicians during the last 3.5 years was analyzed. 26 were performed between October 1991 and May 1995, of which 23 were successful (88.4%). Failures were due to poor anatomic identification of the cricothyroid membrane. Most patients suffered head or neck injuries (in 61.5% and 19%, respectively). The main indications were anatomical distortion of the pharynx and larynx and failure to intubate. Intubation was attempted in 22 patients prior to coniotomy (multiple attempts in 17). Since coniotomy is a life-saving procedure, it should be part of the armamentarium of any physicians. Coniotomy in the field is associated with a high success rate. The procedure is recommended in trauma victims who need airway establishment and cannot be intubated or in whom intubation has failed.

Airway Obstruction↗
PubMed1996

A comparison of cognitive profiles in schizophrenia and other psychiatric disorders.

This study compared patients across 5 psychiatric diagnostic groups: Depression, Mania, Schizophrenia, Schizoaffective Disorder, and Psychosis NOS, all of whom are psychotic. Differences in overall cognitive profiles and in dysfunctional memory mechanisms, as well as the effect of psychosis on cognitive functioning were explored using the Neurobehavioral Cognitive Status Examination (NCSE), a brief screening instrument. Results indicated pronounced deficit in memory and abstract reasoning associated with schizophrenic illness, which is not secondary to psychosis and points to localized brain dysfunction. Both encoding and postencoding memory mechanisms were affected. Results support a hypothesis of progressive dysfunction associated with the severity and chronicity of the illness. Implications of findings in aiding diagnostic determination, patient management and rehabilitation are discussed.

Adolescent↗
PubMed1996

Hereditary inclusion body myopathy maps to chromosome 9p1-q1.

Hereditary inclusion body myopathy (HIBM) is a unique disorder of unknown etiology that typically occurs in individuals of Persian Jewish descent. Distinguishing features of the disorder from other limb girdle myopathies include elderly age of onset, ethnic predisposition, and sparing of the quadriceps despite severe involvement of all other proximal leg muscles. Involved muscles demonstrate fibers with rimmed vacuoles and filamentous cytoplasmic and nuclear inclusions. Additional histological features are accumulations of beta-amyloid protein and the absence of inflammatory cells. To identify the chromosomal location of the gene responsible for HIBM, nine Persian Jewish families with HIBM were evaluated. Genomewide linkage analyses identified the recessive IBM locus on chromosome 9 band p1-q1 (maximum lod score at D9S166 = 5.32, theta = 0.0). This region contains the Friedreich's Ataxia gene, raising the possibility that HIBM may be a related neurogenic disorder.

Adult↗
PubMed1996

Essential fatty acid preparation reduces cholesterol and fatty acids in rat cortex.

Previous studies have shown that chronic administration of SR-3 (a 1:4 mixture of alpha-linolenic and linoleic acid) affects spatial learning, thermoregulation, pain threshold, and protection from seizures. The mode of action of SR-3 is unknown. One possible explanation is that SR-3 induces changes in the FA profile and in the cholesterol level in neuronal membranes. This study used 10 independent groups of rats (ni = 12) given 4 weeks of either saline, mineral oil (vehicle), alpha-tocopherol (antioxidant), alpha-linolenic acid, linoleic acid, or one of 5 different ratios of alpha-linolenic acid:linoleic acid (1:3, 1:4, 1:5, 1:6, 1:7) as free fatty acids. FA profile and cholesterol level were examined by GC method in synaptosomes obtained from the frontal cortex of the rats. The mineral oil treated group served as the control group. No difference was found in the FA profile or cholesterol level except for the SR-3 treated group. The ratio of 1:4 was found to have a significant influence on decreasing the cholesterol level and in inducing major changes in the FA profile, such as an increase in EFA. These effects of SR-3 may result in modification of the membrane fluidity, which may, in turn, enhance cognitive and neuropharmacological effects.

Animals↗
PubMed1995

Prenatal diagnosis of familial dysautonomia by analysis of linked CA-repeat polymorphisms on chromosome 9q31-q33.

Familial Dysautonomia (FD) is an autosomal recessive sensory neuropathy that affects about 1 in 3,700 individuals of Ashkenazi Jewish ancestry. The underlying biochemical and genetic defects are unknown, thereby precluding prenatal diagnosis in at-risk families. Recently, the FD gene (DYS) was mapped with strong linkage disequilibrium to polymorphic markers in the chromosome 9 region q31-q33. In this report, the use of these markers for the prenatal diagnosis of FD by linkage analysis in families with a previously affected child was evaluated. Genomic DNA from appropriate family members was analyzed to construct haplotypes using informative CA repeat polymorphisms closely linked to and flanking the FD locus. The calculation of risk for the prenatal diagnoses was performed by linkage analysis. All seven FD families were informative for the closely linked polymorphic markers and fetal diagnoses were made in eight pregnancies. Six fetal diagnoses were predicted with > 98% accuracy, while two with recombinations were predicted with at least 88% and 92% accuracy. Use of these closely linked markers permitted the reliable prenatal diagnosis of FD in families with a previously affected child.

Abortion, Eugenic↗
PubMed1995

The human gene for neurotrophic tyrosine kinase receptor type 2 (NTRK2) is located on chromosome 9 but is not the familial dysautonomia gene.

The neurotrophic tyrosine kinase receptor type 2 (NTRK2) gene is a member of the trk family of tyrosine protein kinases, which encode receptors for the nerve growth factor-related proteins known as neurotrophins. The neurotrophins and their receptors have long been considered candidate genes for familial dysautonomia (FD), a hereditary sensory neuropathy resulting from the congenital loss of both sensory and autonomic neurons. The DYS gene has recently been mapped to human chromosome 9q31-q33, and therefore we set out to determine the chromosomal localization of the candidate gene NTRK2. A mouse trkB probe was hybridized to both somatic cell hybrids containing human chromosome 9 and a human chromosome 9 flow-sorted cosmid library. The human homologue of trkB, NTRK2, was assigned to chromosome 9. To localize the NTRK2 gene further, a dinucleotide repeat polymorphism was identified within a cosmid that contains NTRK2 exon sequences. This marker was genotyped in the CEPH reference pedigrees and places the NTRK2 gene near D9S1 on the proximal long arm of human chromosome 9. The NTRK2 gene is located approximately 22 cm proximal to DYS and shows several recombinants in disease families. Therefore, the NTRK2 gene can now be excluded as a candidate gene for familial dysautonomia.

Animals↗
PubMed1995

Prenatal diagnostic testing for familial dysautonomia using linked genetic markers.

Familial dysautonomia (FD), a recessively inherited disease, has been mapped to chromosome 9q31. Highly polymorphic dinucleotide repeat markers flanking the genetic locus and at the same genetic location have been identified. We describe the prenatal diagnosis of FD using linkage and linkage disequilibrium analyses with these markers. Twelve families were analysed for informativeness and of these, seven went on to have prenatal testing (a total of eight fetuses tested). All of these fetuses were predicted to be heterozygous unaffected (FD carriers). Seven fetuses have come to term and are normal. In the absence of a recombinant proband, a panel of three proximal and three distal markers is sufficient to provide informative flanking markers and an 87-96 per cent likelihood of a highly predictive test. In an additional family at 1:4 risk for FD, no DNA was available from the propositus. This family was analysed using linkage disequilibrium to the #18 allele of the tightly linked marker D9S58 in conjunction with linkage analysis using data from two unaffected children. Prenatal diagnosis in this family indicated an affected fetus.

Base Sequence↗
PubMed1995

Peripherin gene is linked to keratin 18 gene on human chromosome 12.

Peripherin is a neuron-specific intermediate filament (IF) protein, found primarily in phylogenetically old regions of the nervous system. Whereas other neuronal IF genes have only two to three introns and are scattered in the genome, the peripherin gene (PRPH) has a complex intron-exon structure like nonneuronal IF genes that are clustered in tandem arrays, e.g., those encoding the keratins. We used a cosmid containing the human peripherin gene (PRPH) to determine its chromosomal location in relationship to nonneuronal IF genes. Using a rodent-human mapping panel, we localized the PRPH gene to human chromosome 12. Since a cluster of keratin genes maps to 12q12-13, polymorphic markers were developed for PRPH and for one of the keratin genes presumed to be in the cluster, keratin 18 (KRT18). Both markers were typed in CEPH reference families. Pairwise and multipoint analyses of the CEPH data revealed that KRT18 is tightly linked to DNA markers D12S4, D12S22, D12S90, D12S96 and D12S103, which lie between D12S18 and D12S8, with odds greater than 1000:1. These markers are physically located at 12q11-13, thus supporting the fine localization of KRT18 in or near the group of type II keratins in this region. Furthermore, linkage analysis showed that the peripherin gene (PRPH) is tightly linked to KRT18 (Z = 15.73, theta = 0.013), and therefore appears to be in close proximity to the cluster.

Base Sequence↗
PubMed1995

Clinical characteristics of delayed and immediate-onset combat-induced post-traumatic stress disorder.

The aim of the current study is to examine the clinical characteristics of war-related disturbances among veterans with delayed and immediate-onset post-traumatic stress disorder (PTSD). One hundred twenty-five veterans who sought help for war-related disturbances, 8 years after the 1982 Lebanon War, filled out the PTSD Inventory, Impact of Event Scale, and SCL-90. Their scores were compared with those of 370 treated combat stress reaction casualties who filled out the questionnaires a year after the same war. Findings indicate that veterans from the delayed-helpseeking group suffer from a higher rate (92 vs. 59%) and a greater intensity of PTSD, more intrusive tendencies, and more severe general psychiatric symptomatology than those of the immediate-helpseeking group. These findings indicate that a fair number of combatants still seek help for war-related disturbances almost a decade after the war. The complex relationship between delayed-helpseeking and delayed-onset PTSD is discussed.

Adult↗