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S Schwartz

Publications and source records attributed to S Schwartz.

At least 217 records · Page 12Linked to original sources
PubMed1997

Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15.

Prader-Willi syndrome (PWS) is a complex multiple anomaly syndrome that has been shown to result from deficient expression of paternal chromosome 15(q11-q13). In most cases, it is caused either by deletion of this region in the paternally inherited chromosome 15 or by maternal uniparental disomy (UPD) of chromosome 15. In order to determine whether there are phenotypic differences between patients whose PWS is caused by these two different mechanisms, 54 affected individuals (37 with deletion, 17 with UPD) were personally examined and studied using molecular techniques. The previously recognized increased maternal age in patients with UPD and increased frequency of hypopigmentation in those with deletion were confirmed. Although the frequency and severity of most other manifestations of PWS did not differ significantly between the two groups, those with UPD were less likely to have a "typical" facial appearance. In addition, this group was less likely to show some of the minor manifestations such as skin picking, skill with jigsaw puzzles, and high pain threshold. Females and those with UPD were also older, on average. Possible mechanisms by which these differences could occur and the implications of these differences for diagnosis are described.

Adolescent↗
PubMed1997

Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation.

Recent studies have identified a new class of Prader-Willi syndrome (PWS) and Angelman syndrome (AS) patients who have biparental inheritance, but neither the typical deletion nor uniparental disomy (UPD) or translocation. However, these patients have uniparental DNA methylation throughout 15q11-q13, and thus appear to have a mutation in the imprinting process for this region. Here we describe detailed clinical findings of five AS imprinting mutation patients (three families) and two PWS imprinting mutation patients (one new family). All these patients have essentially the classical clinical phenotype for the respective syndrome, except that the incidence of microcephaly is lower in imprinting mutation AS patients than in deletion AS patients. Furthermore, imprinting mutation AS and PWS patients do not typically have hypopigmentation, which is commonly found in patients with the usual large deletion. Molecular diagnosis of these cases is initially achieved by DNA methylation analyses of the DN34/ZNF127, PW71 (D15S63), and SNRPN loci. The latter two probes have clear advantages in the simple molecular diagnostic analysis of PWS and AS patients with an imprinting mutation, as has been found for typical deletion or UPD PWS and AS cases. With the recent finding of inherited microdeletions in PWS and AS imprinting mutation families, our studies define a new class of these two syndromes. The clinical and molecular identification of these PWS and AS patients has important genetic counseling consequences.

Adult↗
PubMed1997

Deletions in Xq26.3-q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern.

High resolution cytogenetics, microsatellite marker analyses, and fluorescence in situ hybridization were used to define Xq deletions encompassing the fragile X gene, FMR1, detected in individuals from two unrelated families. In Family 1, a 19-year-old male had facial features consistent with fragile X syndrome; however, his profound mental and growth retardation, small testes, and lover limb skeletal defects and contractures demonstrated a more severe phenotype, suggestive of a contiguous gene syndrome. A cytogenetic deletion including Xq26.3-q27.3 was observed in the proband, his phenotypically normal mother, and his learning-disabled non-dysmorphic sister. Methylation analyses at the FMR1 and androgen receptor loci indicated that the deleted X was inactive in > 95% of his mother's white blood cells and 80-85% of the sister's leukocytes. The proximal breakpoint for the deletion was approximately 10 Mb centromeric to FMR1, and the distal breakpoint mapped 1 Mb distal to FMR1. This deletion, encompassing approximately 13 Mb of DNA, is the largest deletion including FMR1 reported to date. In the second family, a slightly smaller deletion was detected. A female with moderate to severe mental retardation, seizures, and hypothyroidism, had a de novo cytogenetic deletion extending from Xq26.3 to q27.3, which removed approximately 12 Mb of DNA around the FMR1 gene. Cytogenetic, and molecular data revealed that approximately 50% of her white blood cells contained an active deleted X. These findings indicate that males with deletions including Xq26.3-q27.3 may exhibit a more severe phenotype than typical fragile X males, and females with similar deletions may have an abnormal phenotype if the deleted X remains active in a significant proportion of the cells. Thus, important genes for intellectual and neurological development, in addition to FMR1, may reside in Xq26.3-q27.3. One candidate gene in this region, SOX3, is thought to be involved in neuronal development and its loss may partly explain the more severe phenotypes of our patients.

Adult↗
PubMed1997

Schedule-induced masseter EMG in facial pain subjects vs. no-pain controls.

Empirical reports suggest that oral habits (e.g., teeth clenching) may be behavioral mediators linking stress to muscle hyperreactivity and the development of facial pain. Another report suggests that excessive behavioral adjuncts develop in conjunction with fixed-time stimulus presentation. The present study assessed the extent to which the oral habits exhibited by facial pain patients are schedule-induced. Subjects with Temporomandibular Disorder (TMD) symptomatology (n = 15) and pain-free controls (n = 15) participated in a 4-phase experiment (adaptation, baseline, task, recovery) designed to elicit schedule-induced behaviors. Self-report of oral habits and negative affect were recorded after each phase. Objective measures of oral habits were obtained via behavioral observation and masseter EMG recordings. Results revealed that negative arousal significantly increased during the fixed-time (FT) task and was also associated with increased oral habits among the TMD subjects. Moreover, 40% of the TMD subjects and none of the controls exhibited a pattern of EMG elevations in the early part of the inter-stimulus interval that met a strict criteria for scheduled-induced behavior per se. Taken together, these results suggest that the TMD subjects were engaging in schedule-induced oral habits. The adjunctive behavior literature seems to provide a plausible explanation as to how oral habits develop and are maintained in TMD patients, despite their painful consequences.

Adult↗
PubMed1997

Early curbing of protein hyper-catabolism in postoperative patients by nutritional support with glucose plus amino acids, but not with glucose alone.

This work attempts to determine if there are differences in protein metabolism in post-surgical patients who receive parenteral nutrition with amino acids plus glucose (G+AA) or conventional gluco-salinal solution (GS). Eighteen patients submitted to gastrointestinal surgery were randomized and double-blindly administered either G+AA (1 g AA/kg x d and 28 kJ/kg x d), or GS (28 kJ/kg x d). Protein metabolism was determined 12 h after surgery (day 0) and after 5 days of nutritional support. On day 0, protein breakdown was similarly elevated, with respect to reference values, in both groups (GS: 4.62 +/- 0.25; G+AA: 5.25 +/- 0.50 g prot/kg x d) as a result of surgical stress. These values increased significantly at day 5 (P < 0.03) with the administration of GS to 6.93 +/- 1.00 g prot/kg x d, while they decreased (P < 0.002, 3.30 +/- 0.42 g prot/kg x d) with G+AA. Protein synthesis was increased (5.69 +/- 0.86 g prot/kg x d) with GS (P < 0.02), and was decreased (2.79 +/- 0.44 g prot/kg x d) with G+AA (P < 0.0002). Both synthesis and breakdown were inside normal reference values after 5 days for group G+AA. In both groups, nitrogen balance did not change significantly at day 5 compared to day 0. G+AA is effective in curbing the hypermetabolism produced by postoperative stress, achieving normal protein metabolism in 5 days, while GS increases the protein breakdown and synthesis. Nitrogen balance does not detect these modifications of the protein metabolism. Undernutrition on prognosis is not yet fully recognized.

Journal Article↗
PubMed1997

In menstrual cycle stage a confounder in population-based psychiatric research?

BACKGROUND: It has been suggested that a failure to control for point in the menstrual cycle can lead to biased results in assessing psychiatric symptoms among women since state affects associated with premenstrual symptoms may lead to unreliability of symptom reporting as well as an artificial elevation of symptom ratings. We examine these hypotheses and the extent to which they can account for gender differences in symptom scale scores of demoralization and enervation. METHODS: The data are derived from an epidemiological study of Jews born in Israel between 1949 and 1958. The symptom scale scores of 2265 men and 1769 women (368 premenstrual, 458 menstruation and 943 postmenstrual) were compared regarding reliability, homogeneity and mean score. RESULTS: There were no differences among the menstrual groups, or between the men and women, in reliability of their responses as measured by the alpha coefficient and the coefficient of variation. There were no significant differences among the female groups on mean symptom scale score. The mean scale scores for each female group were significantly higher than the mean scores for men. CONCLUSIONS: Our results suggest that menstrual cycle stage does not influence the reliability of reporting, the variability of response or mean symptom levels. However, our conclusions may not apply to studies of drug effects or clinical studies of premenstrual dysphoria.

Adult↗
PubMed1997

Successful treatment of cerebral aspergillosis with a novel triazole (voriconazole) in a patient with acute leukaemia.

Invasive aspergillosis is an increasing problem in patients with acute leukaemia, bone marrow transplantation, immunosuppression after solid organ transplantation, or acquired immunodeficiency syndrome. Despite available antifungal treatment, the mortality approaches 100% in patients with dissemination of the infection into the central nervous system (CNS). Using a novel triazole, voriconazole, we successfully treated an Aspergillus brain abscess in a patient with acute leukaemia. Drug levels above the minimal fungicidal concentration for Aspergillus species were detected in cerebrospinal fluid (CSF) specimens, and the treatment achieved an objective response.

Acute Disease↗
PubMed1997

Morphological and cytochemical findings in 150 cases of T-lineage acute lymphoblastic leukaemia in adults. German Multicentre ALL Study Group (GMALL).

We evaluated the morphological findings in 150 consecutive cases of T-lineage acute lymphocytic leukaemia (T-ALL). Cytochemistry including PAS staining and acid phosphatase reaction proved of limited value for the diagnosis of ALL. The diagnosis of acute leukaemia was easy to establish in most instances. However, in a few cases the leukaemic cells were difficult to recognize as blasts. The nuclei of such cells showed condensed chromatin and nucleoli were lacking, and was encountered particularly in thymic ALL. Basophilic cytoplasm combined with prominent vacuolization suggestive of mature B-ALL (ALL-L3 type), was observed in 16 cases. Other features, however, such as cell size, polymorphism, chromatin structure, sparse cytoplasm or focal positivity for acid phosphatase, excluded a diagnosis of ALL-L3 in those cases. Distinction from hybrid leukaemia was difficult in 20 cases, because of a low percentage of peroxidase-positive blasts or other features which suggested a separate myeloid leukaemia component. In nine of these the hybrid nature of the leukaemia was considered as certain on the basis of morphology. Seven cases had been diagnosed as biphenotypic with coexpression of myeloid and lymphoid markers by immunological techniques. In conclusion, our analysis showed some serious pitfalls of the morphology in T-ALL, clearly indicating the need for immunological analysis of the leukaemic cells. However, morphology remains an essential component of the diagnostic repertoire, especially when the marrow is difficult to aspirate and in cases with equivocal immunological findings. Furthermore, recognition of a separate myeloid leukaemic component in addition to the lymphatic one requires a morphological analysis.

Adult↗
PubMed1997

Pharmacokinetics, disposition and metabolism of 546C88 (L-NG-methylarginine hydrochloride) in rat and dog.

1. 14C-546C88 (14C-L-NG-methylarginine hydrochloride) was administered to rat and dog as a single 5-min intravenous infusion at 1.7 mg/kg (20 mg/kg/h) to aid in the preclinical safety evaluation of the compound. 2. The distribution and elimination of parent compound from plasma was rapid in both species. 3. Drug-derived radioactivity was eliminated slowly. There was up to 39% of the dose retained in the carcasses at the end of the 7-day collection periods. The main route of elimination was as 14CO2 in the expired air. Less than 8% of the dose was excreted in the urine, and < 5% in the faeces. 4. Drug derived radioactivity was widely distributed throughout the body with highest concentrations in tissues with a high protein turnover, such as glandular tissue and liver. 5. 14C-546C88 appeared to be eliminated primarily by metabolism and subsequent putative amino acid catabolism, resulting in retention of drug-derived radioactivity in tissues, and ultimate elimination as 14CO2 in the expired air. Potential routes of metabolism of 546C88 have been identified.

Animals↗
PubMed1997

Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome.

The lack of normally active paternal genes in 15q11-q13, as an outcome of either a paternal deletion or maternal disomy, accounts for >95% of all patients with Prader-Willi syndrome. Other mechanisms, including imprinting mutations and unbalanced translocations involving pat 15q11-q13, have been described elsewhere. In this study, we present a patient with a rare balanced, de novo translocation-46,XY,t(2;15)(q37.2;q11.2)-involving breakage within the Prader-Willi/Angelman syndrome region of the paternal homologue, without an apparent deletion. The patient demonstrated several manifestations of the Prader-Willi syndrome but was clinically atypical. Cytogenetic and molecular studies of this case demonstrated the translocation breakpoint to be between SNRPN and IPW, with mRNA expression of SNRPN and PAR-5 but absence of IPW and PAR-1 expression. These results suggest that disruption of either IPW expression or a nearby gene by an upstream break may contribute to the Prader-Willi syndrome phenotype and that expression of SNRPN or other upstream genes is responsible for other aspects of the classical Prader-Willi syndrome phenotype.

Animals↗
PubMed1997

Characterization of neo-centromeres in marker chromosomes lacking detectable alpha-satellite DNA.

Recent studies have implicated alpha-satellite DNA as an integral part of the centromere, important for the normal segregation of human chromosomes. To explore the relationship between the normal functioning centromere and alpha-satellite DNA, we have studied eight accessory marker chromosomes in which fluorescence in-situ hybridization could detect neither pancentromeric nor chromosome-specific alpha-satellite DNA. These accessory marker chromosomes were present in the majority of or all cells analyzed and appeared mitotically stable, thereby indicating the presence of a functional centromere. FISH analysis with both chromosome-specific libraries and single-copy YACs, together with microsatellite DNA studies, allowed unequivocal identification of both the origin and structure of these chromosomes. All but one of the marker chromosomes were linear mirror image duplications, and they were present along with either two additional normal chromosomes or with one normal and one deleted chromosome. Indirect immunofluorescence analysis revealed that the centromere protein CENP-B was not present on these markers; however, both CENP-C and CENP-E were present at a position defining a 'neo-centromere'. These studies provide insight into a newly defined class of marker chromosomes that lack detectable alpha-satellite DNA. At least for such marker chromosomes, alpha-satellite DNA at levels detectable by FISH appears unnecessary for chromosome segregation or for the association of CENP-C and CENP-E at a functional centromere.

Autoantigens↗
PubMed1997

Clinical presentation of invasive aspergillosis.

Invasive aspergillosis has increasingly been recognised to cause significant morbidity and mortality in immunocompromised patients. Fever unresponsive to broad-spectrum antibiotics is the earliest and most common sign of an invasive fungal infection. As invasive Aspergillus infections are usually acquired by inhalation of Aspergillus conidia, symptoms of a pulmonary infection such as cough, rales and marked pleuritic chest pain can be noted early in the course, whereas hemoptysis typically comes late after neutrophil recovery. Aspergillus infections of the upper respiratory tract may also involve the nasal cavity or sinuses resulting in nasal obstruction, epistaxis, facial pain, periorbital swelling and even palate destruction. Primary cutaneous infections present as non-purulent ulcerations and may be seen in association with implantable intravenous devices. Other sites of infections, such as the central nervous system, originate from dissemination of molds and may be suspected when focal neurological findings or meningism develop. The recognition of symptoms associated with invasive aspergillosis in patients at risk should prompt further diagnostic procedures, as an early diagnosis and immediate institution of antifungal therapy might improve the treatment outcome in this life-threatening condition.

Aspergillosis↗
PubMed1997

Recognition of prominent viral epitopes induced by immunization with human immunodeficiency virus type 1 regulatory genes.

Mice immunized with the regulatory genes nef, rev, and tat from human immunodeficiency virus type 1 developed both humoral and cellular immune responses to the gene products Nef, Rev, and Tat. This study demonstrates that it is feasible to induce immune reactions to all of these regulatory gene products. Humoral responses were seen after DNA boosts, while potent T-cell proliferative responses were noted already after a single immunization. A Th1-directed immune response was demonstrated early after immunization. A 3- to 75-fold-stronger T-cell response was seen in animals receiving DNA epidermally compared to that in animals receiving intramuscular injections. Nef, Rev, and Tat putative B- and T-cell epitopes were clearly mapped by using peptides derived from the regulatory proteins and were similar to those which are detected in human immunodeficiency virus infection. Although immunization by the Nef, Rev, and Tat proteins raised high immunoglobulin G titers in serum, the epitope spreading appeared broader after DNA immunization. The combination of all of these regulatory genes together with two genes for structural proteins, the envelope and gag genes, demonstrated that a combined approach is feasible in that reactivities to all antigens persisted or were even augmented. No interference between plasmids was noted.

AIDS Vaccines↗
PubMed1997

Photoactivation of caged compounds in single living cells: an application to the study of cell locomotion.

Caged compounds are molecules whose biological function is masked until UV light induces a photo-chemical reaction that converts the molecules into a biologically active state. These probes provide very powerful tools in cell biology research, since the activation can be precisely controlled temporally and spatially by limiting their exposure to light. This report describes a simple caged compound illuminator that can be attached to an inverted microscope; it can simultaneously provide both sufficient UV illumination for photoactivation and epifluorescence excitation to monitor indicator fluorescence. As an example, we show that the cytoplasmic calcium level can be raised very rapidly by the photoactivation of a new caged compound, caged calcium ionophore DMNPE-A23187, and that this [Ca2+]i increase is associated with tail retraction of motile keratocytes.

Animals↗
PubMed1997

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Catalogs, Commercial as Topic↗
PubMed1997

Venomous marine animals of Florida: morphology, behavior, health hazards.

This article reviews the dangers related to marine animal envenomations in Florida. Venomous marine animals exhibit diverse mechanisms of injury and toxicity. Information regarding the morphology, behavior, and health hazards of these dangerous organisms is presented to help medical personnel recognize, diagnose and treat marine envenomations. Hazardous marine animals discussed in this review include both invertebrates and vertebrates. Stinging invertebrate animals include sponges, coelenterates (jellyfish, hydroids, corals, and sea anemones), echinoderms (sea urchins, starfish and sea cucumbers), annelid worms (bristleworm), and mollusks (cone shells, octopi and nudibranches). Stinging vertebrates discussed include stingrays, catfish, scorpionfish, and leatherjacks.

Animals↗