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Biomedical subjects

E Sprecher

Publications and source records attributed to E Sprecher.

At least 37 records · Page 2Linked to original sources
PubMed2000

Homogeneity of the age at diagnosis in sibs with Type 2 diabetes: implications for sib-pair analysis.

Homogeneity of the age at diagnosis of Type 2 diabetes was studied in 1,228 sibs in 300 unrelated families: 100 consecutive single-affected and 200 consecutive multiple-affected ones. There were 635 diabetic sibs. The mean and median age at diagnosis in all affected individuals was 50 years (range, 19-75 years). The mean age at diagnosis in the multiply affected families was 49 years (median 50); the between-sibs range of age at diagnosis within multiple-affected families was (mean and median) 17 years (range, 0-55), with 42% of these diagnosed within a 5-year age span, 66% within 10 years, and 90% within 13 years. When one parent had diabetes, it was more often the mother (79% P = 0.0023). In order to examine this apparent tendency toward homogeneity of age at diagnosis within families, with full regard for and parsimonious to right-censored data, we employed a Cox proportional-hazards survival analysis, with family as the explanatory variable. Deviance residuals resulting from that model were analyzed in a variance components, random effects model ANOVA which indicated a significant (P << 0.001) effect of family on age of diagnosis, with an intraclass correlation of 0.29. In many families the clustering of age at diagnosis appeared very tight, with single outliers, and in 20 families with the longest history, diabetes was diagnosed in 68 sibs within the span of 8 +/- 7 years, whereas 38 unaffected sibs remain free of diabetes 25 +/- 8 years later. The wide differences of the age at diagnosis between families and its intrafamilial homogeneity should be considered in planning genetic analysis of Type 2 diabetes.

Adult↗
PubMed2000

A comparative immunohistochemical study of MART-1 expression in Spitz nevi, ordinary melanocytic nevi, and malignant melanomas.

BACKGROUND: The histopathologic differential diagnosis of Spitz nevus (SN) from malignant melanoma (MM) may be difficult. OBJECTIVE: We attempted to elucidate the pattern of expression of a newly recognized melanocyte-specific melanosomal protein MART-1 in routinely processed specimens of SNs, MMs, and ordinary melanocytic nevi (MNs) and to see whether it can help to differentiate between them. METHODS: Twenty SN, 22 MM, and 27 ordinary MN were immunostained with anti-MART-1 monoclonal antibody (clone A103). RESULTS: All SNs, MNs, and MMs demonstrated cytoplasmic staining for MART-1 in some of their tumor cells, of which 17 of 20 (85%) and 24 of 27 (89%) of SN and MN, respectively, demonstrated positive stainings in more than half of their tumor cells, as compared with only 10 of 22 (45%) of the MM (P <.05). The majority of lesions in all 3 types of tumors showed a homogeneous mode of staining, although MM tended to show a more heterogeneous pattern. A consistent pattern of stratification of staining with progressive descent into the dermis was not demonstrated in these tumors. CONCLUSION: MART-1 does not differentiate between SN, MM, and ordinary MN in a consistent pattern, but it may be used as a marker for these tumors.

Antigens, Neoplasm↗
PubMed2000

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Journal Article↗
PubMed2000

The role of corpus cavernosum electromyography.

Although corpus cavernosum electromyography presents great theoretical appeal as a possible direct clinical measure of penile neurogenic function, it has still not been adopted as a routine diagnostic test in the evaluation of patients with erectile dysfunction. This is because of the considerable technical and interpretative problems associated with the method. This review covers some of the more important research and clinical papers published since its first description in 1989, with a special focus on recent advances in this field.

Animals↗
PubMed2000

Diffuse alveolar hemorrhage following thrombolytic therapy for acute myocardial infarction.

We describe a 66-year-old patient with hemoptysis, a drop in hematocrit, hypoxemia and new bilateral alveolar infiltrates after receiving streptokinase for acute myocardial infarction. Markedly increased carbon monoxide diffusion capacity suggested a diagnosis of alveolar hemorrhage. Underlying conditions included congestive heart failure. The patient recovered uneventfully within 7 days of conservative treatment. Alveolar hemorrhage is a rare and often unrecognized life-threatening complication of thrombolytic therapy. Particular attention should be paid to the pulmonary status of patients with congestive heart failure scheduled to receive thrombolytic therapy.

Aged↗
PubMed2000

Combined clonidine-short-ACTH test for the simultaneous assessment of growth hormone reserve and hypothalamic-pituitary-adrenal axis integrity in children.

OBJECTIVE: To determine the feasibility of using the combined oral clonidine and the short-ACTH test instead of the sometimes dangerous insulin-induced hypoglycemia test as a screening procedure, for the simultaneous assessment of growth hormone reserve and hypothalamic-pituitary-adrenal axis integrity in children with growth retardation. DESIGN: Evaluative study. METHOD: Seventy-three children (52 males) aged 11+/-3 years with attenuated growth (group 1) were tested by combined clonidine (150 microg/m(2)) and short-ACTH test (either the standard 250 microg or the low-dose 1 microg/1. 73 m(2)). Thirty-one children received no pretreatment (nonprimed) (subgroup 1NP), and 42 were primed with ethynylestradiol 40 microg/m(2)/day two days before testing (subgroup 1P). The control group for the short-ACTH test (group 2) consisted of 42 children and adolescents (13 males) aged 12+/-3 years with early or accelerated puberty or premature closure of epiphyses, who received ACTH only (21 standard, 21 low-dose) with no evidence of adrenal or pituitary pathology. The peak GH response was compared between the primed and the nonprimed group 1 subjects, and the cortisol levels were compared between the combined test subgroups and the controls. The peak pass level for growth hormone was 10 ng/ml; the peak pass level for cortisol was 520 nmol/l. RESULTS: Sixty-four of the 73 children in group 1 (87.7%) showed a growth hormone level of >/=10 ng/ml on the first stimulation test, including 26/31 (84%) nonprimed and 38/42 (90.5%) primed. Of the 9 patients who failed the first clonidine test, 4 also failed the second, primed test, including 1/5 nonprimed patients (20%) and 3/4 primed patients (75%). This yielded a GH deficiency/insufficiency rate of 5.5% and a rather low false-positive rate of 13.3% (4/30) for the nonprimed subjects and 2. 6% (1/39) for the primed subjects. Peak 30-min cortisol in response to ACTH stimulation was similar in the patients who underwent the 250 microg or the 1 microg test within each group (subgroup 1NP, subgroup 1P and group 2); therefore, the results for the two tests were considered together. Compared with group 2, subgroup 1NP patients had a similar 30-min cortisol response (P=NS), and subgroup 1P patients had a much higher response (P<0.05) (group 2=690+/-145 nmol/l, subgroup 1NP=772+/-195 nmol/l, subgroup 1P=934+/-209 nmol/l). However, there was no significant difference in the increment in cortisol response between the three groups. CONCLUSIONS: Our results suggest that the combined clonidine-short-ACTH test is a reliable and safe tool for the simultaneous assessment of growth hormone reserve and hypothalamic-pituitary-adrenal axis integrity in children.

Adolescent↗
PubMed2000

Logistic regression and survival analysis of 450 impotent patients treated with injection therapy: long-term dropout parameters.

PURPOSE: We report the dropout rate associated with intracavernosal self-injection for erectile dysfunction at long-term followup, and determine parameters related to dropout. MATERIALS AND METHODS: Of 2,252 impotent patients evaluated during 9 years 450 (20%) enrolled in our self-injection program. Papaverine and phentolamine were given in 53% (initial treatment), prostaglandin E1 in 21%, and papaverine, phentolamine and prostaglandin E1 (triple mixture) in 26% of cases. Average injection volume for the 3 injection types was 0.52 cc. Data were retrospectively reviewed for patient dropout versus nondropout, specifically for type of drug, volume injected, changing treatment (from 1 drug and/or dosage to another), patient age, marital status, ethnic group, impotence duration and diabetes. RESULTS: Patient age ranged from 23 to 79 years (mean age 55). Of the patients treated at least 4 months 155 (35%) dropped out of the study. Mean treatment duration was 3.5 years. Logistic regression suggested that type of drug, changing treatment during the course of therapy and dosage (volume injected) were the only significant (p <0.05) parameters influencing dropout. Papaverine and phentolamine were twice as likely to lead to dropout as triple mixture or prostaglandin E1, and injection greater than 0.5 cc was more than twice as likely to lead to dropout. Demographic, ethnic, age and etiological factors had no significant effect on the overall dropout rate. CONCLUSIONS: The effectiveness of injection therapy was an underlying factor determining the long-term dropout rate for patients with erectile dysfunction. Other parameters or combinations of parameters that may influence patient dropout remain to be explored.

Erectile Dysfunction↗
PubMed2000

Diabetes and ischemic heart disease among Yemenite immigrants in Israel.

BACKGROUND: The pattern of diabetes and ischemic heart disease among emigrants from pre-industrialized societies to more developed countries may be explained by both genetic and environmental factors. OBJECTIVES: To describe and interpret the pattern of diabetes and ischemic heart disease among Yemenite immigrants in Israel and their second-generation offspring. METHODS: Medical record charts of adult Yemenites were surveyed in a primary care health center, and the data were compared with prevalence rates derived from a non-Yemenite population. RESULTS: There was a marked excess of non-insulin dependent diabetes mellitus among Yemenite immigrants over 45 years of age, but not of hypertension or ischemic heart disease. Yemenites with diabetes were far less likely to develop ischemic heart disease than non-Yemenites with diabetes (odds ratio for non-Yemenites compared with Yemenites, 3.5; confidence interval 1.54 < OR < 7.77). CONCLUSIONS: There was less of an association between diabetes and ischemic heart disease among Yemenites. This finding requires further investigation of the relative roles of genetic and environmental factors.

Adult↗
PubMed2000

Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene.

BACKGROUND: Androgenetic alopecia is considered to be genetically determined. Recently, a rare autosomal recessive form of hereditary alopecia, termed atrichia with papular lesions (APL), was found to result from mutations in the human hairless gene. OBJECTIVE: Our aim was to assess the pattern of androgenetic alopecia in heterozygous carriers of a deleterious mutation in the human hairless gene. METHODS: Healthy male second-degree relatives (n = 31) of patients affected with APL and belonging to a large consanguineous kindred were interviewed and given a Hamilton score of baldness. DNA was obtained from each subject and analyzed for the presence of a mutation in the human hairless gene known to affect this family. The age at onset and extent of baldness were compared in healthy homozygotes and heterozygous carriers of the mutation. RESULTS: Statistical analysis of the results revealed no differences in age at onset and extent of androgenetic alopecia between the two groups of subjects. CONCLUSION: The present study reports the first attempt to characterize the phenotype of heterozygous carriers of a mutation in the human hairless gene. It indicates that the presence of a deleterious mutation in one allele of the hairless gene does not affect the pattern of androgenetic hair loss.

Adult↗
PubMed1999

Atrichia with papular lesions resulting from a nonsense mutation within the human hairless gene.

Atrichia with papular lesions is a rare autosomal recessive form of alopecia characterized by hair loss soon after birth and the development during childhood of a diffuse papular rash. We have previously shown that this disorder results from a deleterious mutation in the human hairless gene, a gene also involved in the pathogenesis of a related but clinically distinct form of congenital alopecia, termed alopecia universalis congenita. In this report, we describe a novel nonsense mutation in exon 4 of the human hairless gene in a consanguineous kindred affected with atrichia with papular lesions. This report provides additional evidence for phenotypic heterogeneity among inherited atrichias and for an association between the papular rash of atrichia with papular lesions and nonsense mutations in the human hairless gene.

Alopecia↗
PubMed1999

Identification of a genetic defect in the hairless gene in atrichia with papular lesions: evidence for phenotypic heterogeneity among inherited atrichias.

Recently, we showed that atrichia with papular lesions (APL), a rare inherited form of alopecia, is transmitted as an autosomal recessive trait in a large inbred kindred of Israeli-Arab origin. Furthermore, we mapped the APL locus to a 5-cM region of chromosome 8p12 in this family. The human "hairless" gene is a candidate target gene for the disease mutation because it maps to the APL locus and because it was recently found to be mutated in a related but clinically distinct form of alopecia known as "alopecia universalis" or "congenital alopecia." In the present study, the coding sequence of the hairless gene was compared by reverse transcription-PCR in fibroblast cell lines derived from an affected patient and an unrelated individual. We identified a single-base deletion (3434delC) in the hairless gene that cosegregated with the disease phenotype in the family. This deletion is predicted to cause a frameshift mutation in the highly conserved C-terminal part of the hairless protein, a region putatively involved in the transcription factor activity of the hairless gene product. The present results are indicative of phenotypic heterogeneity in inherited atrichias caused by mutations in the hairless gene, suggesting different roles for the regions mutated in APL and in other forms of congenital atrichia during hair development.

Age of Onset↗
PubMed1999

Paradoxical heat sensation in healthy subjects: peripherally conducted by A delta or C fibres?

Paradoxical heat sensation upon cooling of the skin has been reported in central as well as in peripheral neurological conditions. In our study, we examined this phenomenon in 35 naive healthy test subjects, of whom 23 experienced paradoxical heat sensation under test conditions. We measured the peripheral conduction velocities of cold sensation, warm sensation and of paradoxical heat sensation by using a quantitative sensory testing model of indirect peripheral conduction velocity measurement. This was based on comparison of measurements at a proximal and a distal site using two measurement methods, one inclusive and the other exclusive of reaction time. We found that the conduction velocity of paradoxical heat sensation (0.70 m/s) was similar to that of warm sensation (0.68 m/s), and that the conduction velocity of cold sensation (7.74-8.01 m/s) was considerably faster. Thus, we conclude that paradoxical heat sensation in healthy subjects is conducted peripherally via slow unmyelinated C fibres and not via the faster A delta fibres. Consequently, we propose that paradoxical heat sensation is encoded via the heat sensing pathway, in accordance with the labelled-line code theory. The mechanisms proposed suggest a malfunctioning cold-sensing pathway disinhibiting the heat-sensing pathway, at peripheral, central or both levels, thus facilitating a paradoxical heat sensation.

Adolescent↗
PubMed1999

Apoptosis, Fas and Fas-ligand expression in melanocytic tumors.

Impaired regulation of apoptosis is known to be associated with the development of various forms of cancer. Fas binding to its ligand, Fas ligand (Fas-L), has been shown to trigger apoptosis in various cell types. Fas-L is expressed by melanoma cells and has been suggested to play a role in melanoma escape from immune surveillance. In the present study, we assessed apoptotic activity and examined Fas and Fas-L expression in malignant melanomas, Spitz nevi and ordinary melanocytic nevi. We evaluated apoptotic activity using terminal deoxynucleotidyl transferase (TdT)-mediated dUTP nick end labeling. Apoptotic activity was found to be minimal in melanomas and moderate in Spitz nevi. In contrast, common nevi demonstrated significant levels of apoptosis in the deep parts of the tumor. Fas was found to be expressed by all Spitz nevi, most melanocytic nevi and approximately half of the malignant melanoma specimens. Fas expression was also significantly more pronounced in Spitz nevus cells as compared with the two other tumors. The anti-Fas-L antibody was found to stain all three melanocytic tumors. Staining was shown to be stronger and more frequent in melanoma cells as compared to the nevus cells. Using the Spearman test, no significant correlation between Fas-L expression in melanoma cells and apoptosis in MM-infiltrating mononuclear cells was found, suggesting that Fas-L expression in melanoma cells may not be instrumental in their ability to escape immune mechanisms of defense. In contrast, increased levels of apoptosis in the deep parts of melanocytic nevi may reflect and possibly contribute to their benign nature.

Apoptosis↗
PubMed1999

Monitoring of the extracranial and intracranial course of single emboli of cardiac origin: a preliminary report.

Simultaneous monitoring of emboli in extracranial and intracranial arteries recorded with identical probes, in a patient with an artificial cardiac valve, allowed the identification and characterization of pairs of signals, which most likely represent single emboli flowing through the common carotid artery into the middle cerebral artery. This technique offers new insight into emboligenesis with obvious therapeutic implications.

Carotid Artery Diseases↗
PubMed1998

Atrichia with papular lesions maps to 8p in the region containing the human hairless gene.

Atrichia with papular lesions (APL) (OMIM 209500) is a hereditary form of alopecia. Hair loss occurs soon after birth and is followed years later by the development of a diffuse papular eruption. Its mode of transmission is still uncertain. A related but clinically distinct form of alopecia, known as alopecia universalis (OMIM 203655), has recently been found to be associated with a mutation in the human hairless gene. The present report describes the largest consanguineous kindred of APL reported to date and provides strong evidence for autosomal recessive inheritance of this rare disorder. On the basis of a linkage analysis of this kindred using six microsatellite markers spanning the human hairless gene region, we found that the APL locus maps to chromosome region 8p12 in a 5 cM interval between marker D8S560 and marker D8S1739. A maximum lodscore of 3.7 was obtained with marker D8S1786, at a recombination fraction of 0. Our results suggest phenotypic variability at the hairless locus although they do not rule out the existence of a gene cluster associated with hair disorders in the same region.

Alopecia↗