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1.
Nature ; 574(7777): 246-248, 2019 10.
Artículo en Inglés | MEDLINE | ID: mdl-31554964

RESUMEN

The study of childhood diet, including breastfeeding and weaning, has important implications for our understanding of infant mortality and fertility in past societies1. Stable isotope analyses of nitrogen from bone collagen and dentine samples of infants have provided information on the timing of weaning2; however, little is known about which foods were consumed by infants in prehistory. The earliest known clay vessels that were possibly used for feeding infants appear in Neolithic Europe, and become more common throughout the Bronze and Iron Ages. However, these vessels-which include a spout through which liquid could be poured-have also been suggested to be feeding vessels for the sick or infirm3,4. Here we report evidence for the foods that were contained in such vessels, based on analyses of the lipid 'fingerprints' and the compound-specific δ13C and Δ13C values of the major fatty acids of residues from three small, spouted vessels that were found in Bronze and Iron Age graves of infants in Bavaria. The results suggest that the vessels were used to feed infants with milk products derived from ruminants. This evidence of the foodstuffs that were used to either feed or wean prehistoric infants confirms the importance of milk from domesticated animals for these early communities, and provides information on the infant-feeding behaviours that were practised by prehistoric human groups.


Asunto(s)
Alimentación con Biberón/historia , Entierro , Cerámica , Leche/química , Rumiantes , Alcanos/análisis , Alcanos/química , Animales , Entierro/historia , Cementerios , Cerámica/historia , Niño , Grasas de la Dieta/análisis , Alemania , Historia Antigua , Humanos , Leche/historia
2.
Pharmazie ; 79(1): 11-16, 2024 Feb 29.
Artículo en Inglés | MEDLINE | ID: mdl-38509630

RESUMEN

Background and aim: Medication errors lead to preventable risks. Preventing strategies such as e-prescribing, clinical pharmacists and medication reconciliation have been implemented in recent years. However, information on long-term medication error rates in routine procedures is missing. Investigations: We aimed to identify predefined medication errors in ten wards of a university hospital where e-prescribing, clinical pharmacists and medication reconciliation have been partially implemented. Patient files were reviewed and routine processes were monitored for drug prescription errors (missing, unclear, outdated information), administration errors (wrong dispensed drugs) and drug handling errors (no light-, moisture-protection, wrong splitting, no separation of drugs, which ought to be taken by an empty stomach). Results: We analyzed 959 prescriptions with 933 solid peroral drugs for 182 patients (98 female, median age 66.5 years [Q25-Q75: 56-78 years]; the median number of drugs was 5 [Q25-Q75: 3-7]). The most frequent prescription error was a not specified drug form (91.1%). The most common administration error was a not adequately provided release dose formulation (72.7%). The lack of light protection for observed photosensitive drugs was the most frequent drug handling error (100%). We found a significantly higher amount of complete drug prescriptions with one of the implemented measurements e-prescribing, medication reconciliation and clinical pharmacists (Fisher's exact test two tailed, each p<0.001; CI 95%). Drug administration errors and drug handling errors were not significantly improved. Among the most frequently involved drug were drugs for acid-related disorders, immunosuppressant, and antineoplastic drugs. Conclusions: In the nearly 1,000 prescriptions and drugs analyzed, medication errors were still common. Various preventive strategies had been implemented in recent years, positively influencing the predefined errors rates.


Asunto(s)
Prescripción Electrónica , Conciliación de Medicamentos , Humanos , Femenino , Anciano , Preparaciones Farmacéuticas , Farmacéuticos , Errores de Medicación/prevención & control , Prescripciones de Medicamentos , Hospitales
3.
Chaos ; 28(3): 033118, 2018 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-29604650

RESUMEN

Generalized synchronization between coupled dynamical systems is a phenomenon of relevance in applications that range from secure communications to physiological modelling. Here, we test the capabilities of reservoir computing and, in particular, echo state networks for the detection of generalized synchronization. A nonlinear dynamical system consisting of two coupled Rössler chaotic attractors is used to generate temporal series consisting of time-locked generalized synchronized sequences interleaved with unsynchronized ones. Correctly tuned, echo state networks are able to efficiently discriminate between unsynchronized and synchronized sequences even in the presence of relatively high levels of noise. Compared to other state-of-the-art techniques of synchronization detection, the online capabilities of the proposed Echo State Network based methodology make it a promising choice for real-time applications aiming to monitor dynamical synchronization changes in continuous signals.

4.
Phys Rev Lett ; 115(20): 203201, 2015 Nov 13.
Artículo en Inglés | MEDLINE | ID: mdl-26613437

RESUMEN

In a combined experimental and theoretical effort, we demonstrate a novel type of dipolar system made of ultracold bosonic dipolar molecules with large magnetic dipole moments. Our dipolar molecules are formed in weakly bound Feshbach molecular states from a sample of strongly magnetic bosonic erbium atoms. We show that the ultracold magnetic molecules can carry very large dipole moments and we demonstrate how to create and characterize them, and how to change their orientation. Finally, we confirm that the relaxation rates of molecules in a quasi-two-dimensional geometry can be reduced by using the anisotropy of the dipole-dipole interaction and that this reduction follows a universal dipolar behavior.

5.
Phys Rev Lett ; 112(1): 010404, 2014 Jan 10.
Artículo en Inglés | MEDLINE | ID: mdl-24483874

RESUMEN

We report on the creation of a degenerate dipolar Fermi gas of erbium atoms. We force evaporative cooling in a fully spin-polarized sample down to temperatures as low as 0.2 times the Fermi temperature. The strong magnetic dipole-dipole interaction enables elastic collisions between identical fermions even in the zero-energy limit. The measured elastic scattering cross section agrees well with the predictions from the dipolar scattering theory, which follow a universal scaling law depending only on the dipole moment and on the atomic mass. Our approach to quantum degeneracy proceeds with very high cooling efficiency and provides large atomic densities, and it may be extended to various dipolar systems.

6.
Phys Rev Lett ; 113(26): 263201, 2014 Dec 31.
Artículo en Inglés | MEDLINE | ID: mdl-25615326

RESUMEN

We report on the observation of a large anisotropy in the rethermalization dynamics of an ultracold dipolar Fermi gas driven out of equilibrium. Our system consists of an ultracold sample of strongly magnetic 167Er fermions, spin polarized in the lowest Zeeman sublevel. In this system, elastic collisions arise purely from universal dipolar scattering. Based on cross-dimensional rethermalization experiments, we observe a strong anisotropy of the scattering, which manifests itself in a large angular dependence of the thermal relaxation dynamics. Our result is in good agreement with recent theoretical predictions. Furthermore, we measure the rethermalization rate as a function of temperature for different angles and find that the suppression of collisions by Pauli blocking is not influenced by the dipole orientation.

7.
J Fish Biol ; 84(2): 328-38, 2014 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-24447291

RESUMEN

This study investigated whether teeth and dorsal fin spines could be used as non-lethal methods of age estimation for a vulnerable and highly valued tropical fisheries species, coral trout Plectropomus leopardus. Age estimation of individuals from 2 to 9 years old revealed that dorsal spines represent an accurate ageing method (90% agreement with otoliths) that was more precise [average per cent error (APE) = 4·1, coefficient of variation (c.v.) = 5·8%] than otoliths (APE = 6·2, c.v. = 8·7%). Of the three methods for age estimation (otoliths, dorsal spines and teeth), spines were the most time and cost efficient. An aquarium-based study also found that removing a dorsal spine or tooth did not affect survivorship or growth of P. leopardus. No annuli were visible in teeth despite taking transverse and longitudinal sections throughout the tooth and trialling several different laboratory methods. Although teeth may not be suitable for estimating age of P. leopardus, dorsal spines appear to be an acceptably accurate, precise and efficient method for non-lethal ageing of individuals from 2 to 9 years old in this tropical species.


Asunto(s)
Determinación de la Edad por el Esqueleto/veterinaria , Aletas de Animales/anatomía & histología , Perciformes/anatomía & histología , Diente/anatomía & histología , Animales
8.
Psychol Med ; 43(10): 2179-90, 2013 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-23312475

RESUMEN

BACKGROUND: The fifth edition of the diagnostic and statistical manual of mental disorders (DSM-5) proposes aligning nicotine use disorder (NUD) criteria with those for other substances, by including the current DSM fourth edition (DSM-IV) nicotine dependence (ND) criteria, three abuse criteria (neglect roles, hazardous use, interpersonal problems) and craving. Although NUD criteria indicate one latent trait, evidence is lacking on: (1) validity of each criterion ; (2) validity of the criteria as a set ; (3) comparative validity between DSM-5 NUD and DSM-IV ND criterion sets ; and (4) NUD prevalence. METHOD: Nicotine criteria (DSM-IV ND, abuse and craving) and external validators (e.g., smoking soon after awakening, number of cigarettes per day) were assessed with a structured interview in 734 lifetime smokers from an Israeli household sample. Regression analysis evaluated the association between validators and each criterion. Receiver operating characteristic analysis assessed the association of the validators with the DSM-5 NUD set (number of criteria endorsed) and tested whether DSM-5 or DSM-IV provided the most discriminating criterion set. Changes in prevalence were examined. RESULTS: Each DSM-5 NUD criterion was significantly associated with the validators, with strength of associations similar across the criteria. As a set, DSM-5 criteria were significantly associated with the validators, were significantly more discriminating than DSM-IV ND criteria, and led to increased prevalence of binary NUD (two or more criteria) over ND. CONCLUSIONS: All findings address previous concerns about the DSM-IV nicotine diagnosis and its criteria and support the proposed changes for DSM-5 NUD, which should result in improved diagnosis of nicotine disorders.


Asunto(s)
Manual Diagnóstico y Estadístico de los Trastornos Mentales , Escalas de Valoración Psiquiátrica/normas , Fumar/fisiopatología , Tabaquismo/diagnóstico , Adulto , Femenino , Humanos , Israel/epidemiología , Masculino , Persona de Mediana Edad , Prevalencia , Reproducibilidad de los Resultados , Fumar/epidemiología , Tabaquismo/epidemiología , Adulto Joven
9.
Phys Rev Lett ; 108(21): 210401, 2012 May 25.
Artículo en Inglés | MEDLINE | ID: mdl-23003221

RESUMEN

We report on the achievement of Bose-Einstein condensation of erbium atoms and on the observation of magnetic Feshbach resonances at low magnetic fields. By means of evaporative cooling in an optical dipole trap, we produce pure condensates of 168Er, containing up to 7×10(4) atoms. Feshbach spectroscopy reveals an extraordinary rich loss spectrum with six loss resonances already in a narrow magnetic-field range up to 3 G. Finally, we demonstrate the application of a low-field Feshbach resonance to produce a tunable dipolar Bose-Einstein condensate and we observe its characteristic d-wave collapse.

10.
Vox Sang ; 100(3): 279-84, 2011 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-20860560

RESUMEN

BACKGROUND: There exists only few data on in vitro and in vivo effects of gamma irradiation of leucoreduced red blood cells (RBCs). Reported studies reflect the effects of early irradiation and subsequent storage. The effects of irradiation on RBCs shortly before the end of their shelf-life have not been examined. STUDY DESIGN AND METHODS: We studied 160 RBC units that were stored in the additive solution saline-adenine-glucose-mannitol and leucoreduced on the collection day. Forty components were irradiated on day +14 with 30 Gy, 40 on day +28, 40 on day +35, and 40 served as nonirradiated controls. In vitro evaluation of all units was performed on days +3, +7, +14, +21, +28, +35, and +42 from the collection day. RESULTS: Gamma irradiation induced leakage of potassium ions and lactate dehydrogenase and enhanced in vitro haemolysis rate in the irradiated components, which started to increase faster than that of nonirradiated RBCs from the day of irradiation, i.e. from day +14 in units that were irradiated on day +14, from day +28 in units that were irradiated on day +28, and from day +35 in units that were irradiated on day +35. CONCLUSIONS: This study presents data on the in vitro quality of leucoreduced RBCs that have been irradiated on days +14, +28, or +35 after collection. Our findings support the proposal that the current limitation of the age of RBCs on the day of gamma irradiation may be replaced by staged limitations depending on the time of irradiation.


Asunto(s)
Conservación de la Sangre/métodos , Eritrocitos/efectos de la radiación , Rayos gamma , Adenina , Glucosa , Hemólisis/efectos de la radiación , Humanos , Procedimientos de Reducción del Leucocitos , Manitol , Permeabilidad/efectos de la radiación , Cloruro de Sodio , Factores de Tiempo
11.
Scand J Med Sci Sports ; 21(6): e468-76, 2011 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-22017708

RESUMEN

This prospective cohort study aimed at identifying player-related risk factors for injuries in youth football as determined by extensive preseasonal screening. All male U15-U19 players from a regional football school (season 2007-2008; n = 67) underwent preseason evaluations assessing physical fatigue, emotional stress and injury history (questionnaire), anthropometric variables, general joint laxity (Beighton score), lower limb coordination (functional hop tests), aerobic fitness (shuttle run test), strength of knee extensor and flexor muscles (isokinetic tests), static and dynamic balance (force plate tests), and explosive strength (jump tests on force plate). Football exposure and all football-related injuries (n = 163) were recorded during the entire subsequent season (44 weeks). Total injury incidence was 10.4 injuries/1000 h and was higher in competition than in training [relative risk = 3.3; CI(95%) (2.39; 4.54); P < 0.001]. Lower limb injuries were most frequent (87%). Acute contact injuries represented 37%, while intrinsic (noncontact and chronic) injuries amounted to 63%. Of all the variables tested, only physical fatigue was significantly associated with injury, as revealed by univariate and multivariate analyses. The same result was observed when considering only intrinsic injuries as outcome. A single preseason test session may be of limited interest in the framework of an injury prevention strategy.


Asunto(s)
Traumatismos en Atletas/clasificación , Traumatismos en Atletas/epidemiología , Aptitud Física/fisiología , Fútbol/lesiones , Adolescente , Antropometría , Traumatismos en Atletas/etiología , Estudios de Seguimiento , Humanos , Luxemburgo/epidemiología , Masculino , Fatiga Muscular , Estudios Prospectivos , Encuestas y Cuestionarios , Adulto Joven
12.
Scand J Med Sci Sports ; 19(6): 834-41, 2009 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-19000103

RESUMEN

This study analyzed sex-specific injury patterns and risk factors in young athletes (n=256) from 12 sport disciplines practicing at the national or the international level in the Grand-Duchy of Luxembourg. Injury occurrence as a result of sport practice was analyzed retrospectively over the year 2006 using a standardized self-administered questionnaire. Overall incidence was not different between girls and boys (1.20 and 1.21 injuries/1000 athlete-hours, respectively), but in the context of team sport competition girls tended to be at a greater risk (rate ratio 2.05, P=0.053). Girls had a higher proportion of injuries in the ankle/foot region compared with boys (34.8% vs 16.8%). No sex-related differences were found regarding injury severity. Multivariate logistic regression (controlling for age and practice volume) revealed that girls' team sports were associated with a greater injury risk compared with individual sports [odds ratio (OR) of 4.76], while in boys this was observed for racket sports (OR=3.31). Furthermore, physical or emotional stress tended to be a specific risk factor in girls. There was a tendency for injury outside sports to be coupled to a higher injury risk in girls and boys. Consideration of sex-specific injury patterns and risk factors could be of importance for effective injury prevention.


Asunto(s)
Traumatismos en Atletas/epidemiología , Traumatismos en Atletas/etiología , Adolescente , Niño , Conducta Competitiva , Femenino , Humanos , Luxemburgo/epidemiología , Masculino , Oportunidad Relativa , Factores de Riesgo , Factores Sexuales , Deportes/clasificación , Índices de Gravedad del Trauma
13.
J Fish Biol ; 74(4): 891-905, 2009 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-20735606

RESUMEN

This study examined the toxicological and physiological responses of a commercially important coral-reef grouper, Plectropomus leopardus (Serranidae), to injection of enriched stable-isotope barium chloride (BaCl(2)) solution. Thirty adult P. leopardus were subject to one of two (138)BaCl(2) injection treatment groups (corresponding to dosage rates of 2 and 4 mg (138)Ba kg(-1) body mass), and a control group in which fish were injected with 0.9% sodium chloride (NaCl) solution. Fish from each group were sampled at post-injection intervals of 48 h and 1, 3, 5 and 8 weeks, at which time blood and tissue samples were removed from each fish. Residual concentrations of Ba and (138)Ba:(137)Ba ratios were measured in muscle, gonad, liver and bone tissues of each experimental fish. Elevated Ba concentrations were detected in all treatment fish tissue samples within 48 h post injection. Residual Ba concentrations decreased throughout the remainder of the 8 week experimental period in all tissues except bone. The BaCl(2) injection had no significant effects on measured whole blood variables or on the plasma concentrations of steroid hormones. Enriched Ba stable isotopes can therefore be used at low dosages to mark larvae of commercially important marine fishes, without adverse effects on the health of the fishes or on humans who may consume them.


Asunto(s)
Sistemas de Identificación Animal/veterinaria , Organismos Acuáticos/efectos de los fármacos , Compuestos de Bario/farmacología , Lubina/fisiología , Cloruros/farmacología , Marcaje Isotópico/veterinaria , Animales , Compuestos de Bario/análisis , Compuestos de Bario/sangre , Compuestos de Bario/metabolismo , Compuestos de Bario/toxicidad , Cloruros/análisis , Cloruros/sangre , Cloruros/metabolismo , Cloruros/toxicidad , Femenino , Explotaciones Pesqueras/métodos , Hormonas Esteroides Gonadales/sangre , Gónadas/efectos de los fármacos , Indicadores y Reactivos/farmacología , Indicadores y Reactivos/toxicidad , Masculino
14.
Biochim Biophys Acta ; 506(1): 18-29, 1978 Jan 04.
Artículo en Inglés | MEDLINE | ID: mdl-413577

RESUMEN

Conjugation in Tetrahymena pyriformis is induced by the mixing of two starved complementary mating types. Addition of the antibiotic cerulenin, a specific inhibitor of de novo lipid synthesis, upon mixing of the mating types inhibited the conjugation process. The inhibition of conjugation was found to be reversible upon washing the cells. Cerulenin inhibited [14C]acetate incorporation into the lipid fraction of the cells, while it did not affect the incorporation of [3H]leucine into proteins. Analysis of the fatty acid composition of the whole cells revealed that during conjugation the ratio of saturated to unsaturated fatty acids is markedly changed. While the ratio of saturated:unsaturated fatty acids is 0.30 in unconjugated cells, it reached a value of 0.45 in conjugated cells.


Asunto(s)
Antifúngicos/farmacología , Cerulenina/farmacología , Conjugación Genética/efectos de los fármacos , Lípidos/biosíntesis , Tetrahymena pyriformis/genética , Animales , Membrana Celular/metabolismo , Ácidos Grasos/metabolismo , Ácidos Grasos Insaturados/metabolismo , Biosíntesis de Proteínas , Tetrahymena pyriformis/metabolismo
15.
Phys Rev X ; 5(4)2015.
Artículo en Inglés | MEDLINE | ID: mdl-29876143

RESUMEN

We show that for ultracold magnetic lanthanide atoms chaotic scattering emerges due to a combination of anisotropic interaction potentials and Zeeman coupling under an external magnetic field. This scattering is studied in a collaborative experimental and theoretical effort for both dysprosium and erbium. We present extensive atom-loss measurements of their dense magnetic Feshbach-resonance spectra, analyze their statistical properties, and compare to predictions from a random-matrix-theory-inspired model. Furthermore, theoretical coupled-channels simulations of the anisotropic molecular Hamiltonian at zero magnetic field show that weakly bound, near threshold diatomic levels form overlapping, uncoupled chaotic series that when combined are randomly distributed. The Zeeman interaction shifts and couples these levels, leading to a Feshbach spectrum of zero-energy bound states with nearest-neighbor spacings that changes from randomly to chaotically distributed for increasing magnetic field. Finally, we show that the extreme temperature sensitivity of a small, but sizable fraction of the resonances in the Dy and Er atom-loss spectra is due to resonant nonzero partial-wave collisions. Our threshold analysis for these resonances indicates a large collision-energy dependence of the three-body recombination rate.

16.
Clin Infect Dis ; 37(12): 1585-90, 2003 Dec 15.
Artículo en Inglés | MEDLINE | ID: mdl-14689335

RESUMEN

Fresh produce increasingly is recognized as an important source of salmonellosis in the United States. In December 1999, the Centers for Disease Control and Prevention detected a nationwide increase in Salmonella serotype Newport (SN) infections that had occurred during the previous month. SN isolates recovered from patients in this cluster had indistinguishable pulsed-field gel electrophoresis (PFGE) patterns (which identified the outbreak strain), suggesting a common source. Seventy-eight patients from 13 states were infected with the outbreak strain. Fifteen patients were hospitalized; 2 died. Among 28 patients enrolled in the matched case-control study, 14 (50%) reported they ate mangoes in the 5 days before illness onset, compared with 4 (10%) of the control subjects during the same period (matched odds ratio, 21.6; 95% confidence interval, 3.53- infinity; P=.0001). Traceback of the implicated mangoes led to a single Brazilian farm, where we identified hot water treatment as a possible point of contamination; this is a relatively new process to prevent importation of an agricultural pest, the Mediterranean fruit fly. This is the first reported outbreak of salmonellosis implicating mangoes. PFGE was critical to the timely recognition of this nationwide outbreak. This outbreak highlights the potential global health impact of foodborne diseases and newly implemented food processes.


Asunto(s)
Brotes de Enfermedades , Mangifera/microbiología , Infecciones por Salmonella/epidemiología , Salmonella enterica , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Brasil , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Persona de Mediana Edad , Infecciones por Salmonella/microbiología , Estados Unidos/epidemiología
17.
Eur J Hum Genet ; 6(2): 185-6, 1998.
Artículo en Inglés | MEDLINE | ID: mdl-9781065

RESUMEN

The heterozygote frequency of Gaucher disease (GD) and Tay-Sachs disease (TSD) is distinctly high among Ashkenazi Jews (1:29 for TSD and 1:16 for GD). Two main theories have been suggested to explain this high occurrence: a founder effect with subsequent genetic drift, and a selective advantage of heterozygotes. We compared the frequency of the GD most common mutation (1226A-->G) among carriers of the common TSD mutation (+1277 TATC) with the frequency of this mutation in the general Ashkenazi population. The frequency of GD carriers among 308 TSD heterozygotes was 1:28 which is about half the expected (P = 0.03). These results indicate that carriers of both diseases do not possess additional evolutionary advantage over single mutation carriers. A reasonable interpretation of these findings is that one or both mutations have arisen relatively recently in different regions of Europe and have not yet reached genetic equilibrium.


Asunto(s)
Enfermedad de Gaucher/genética , Heterocigoto , Judíos/genética , Enfermedad de Tay-Sachs/genética , Análisis Mutacional de ADN , Frecuencia de los Genes , Humanos
18.
Eur J Cancer ; 28(1): 22-7, 1992.
Artículo en Inglés | MEDLINE | ID: mdl-1348952

RESUMEN

A cell line (GZL-8) was established by cloning from ascitic fluid of an untreated ovarian carcinoma patient. The cells grew rapidly, accumulated lipids and showed chromosomal alterations. One of the marker chromosomes showed characteristics of a Y-like chromosome. This unusual finding was confirmed by DNA hybridisation using specific probes to the Y chromosome. The cells stained with fluorescent antibodies to desmoplakin and cytokeratins 8, 18, 19, and weakly with vimentin but not with desmin. The presence of epithelial membrane antigen, human milk fat globulin, alpha-lactalbumin, alpha-fetoprotein, placental alkaline phosphatase and oestrogen receptor-related antigen was demonstrated by indirect immunoperoxidase staining, but no CA-125 antigen could be detected. The cells showed positive reaction with antibodies to P-glycoprotein. The function of the P-glycoprotein transport system was demonstrated by the rhodamine-123 release test. The cells were initially responsive to doxorubicin, and to high concentrations of cisplatin. Growth inhibition by doxorubicin, especially at low doses was enhanced by the addition of verapamil or tamoxifen. This was shown by the soft agar clonogenic assay, by direct cell counting and by the MTT reducing test. Our results show that combination between drug and sensitivity modulators may be of potential clinical value in ovarian cancer.


Asunto(s)
Adenocarcinoma/patología , Antineoplásicos/farmacología , Neoplasias Ováricas/tratamiento farmacológico , Miembro 1 de la Subfamilia B de Casetes de Unión a ATP , Antígenos de Neoplasias/análisis , Proteínas Portadoras/metabolismo , Cisplatino/farmacología , Doxorrubicina/farmacología , Femenino , Humanos , Cariotipificación , Glicoproteínas de Membrana/metabolismo , Tamoxifeno/farmacología , Células Tumorales Cultivadas , Verapamilo/farmacología , Cromosoma Y
19.
Leuk Res ; 22(6): 495-500, 1998 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-9678715

RESUMEN

Ninety-two Israeli children with acute lymphoblastic leukemia (ALL) (67 B-lineage and 25 T-lineage) were analyzed for the immunological antigen receptor gene configuration. Thirty-nine of the patients (27 B-lineage and 12 T-lineage) relapsed. The incidence of the identified rearrangements within the immunoglobulin heavy chain (IgH) and T-cell receptor (TCR)beta, gamma and delta genes, at diagnosis, was in accordance with previous studies from other countries. Furthermore, the clinical relevance of bi/oligoclonal status, at diagnosis, and clonal selection was determined in this long-term follow-up study (median 112 months). A similar relapse rate was observed among the B-lineage patients with bi/oligoclonal and monoclonal patterns indicated by IgH gene rearrangement. Based on our results, we suggest that bi/oligoclonality has no prognostic significance (P=0.8533). Clonal variations between diagnosis and subsequent relapses were detected in 60% (12/20) of the patients; 64% (7/11) B-lineage and 55% (5/9) T-lineage. Clonal selection significantly correlated with shorter duration of remission and earlier recurrence (P=0.0025).


Asunto(s)
Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Adolescente , Linfocitos B/inmunología , Linfocitos B/fisiología , Southern Blotting , Linaje de la Célula/genética , Linaje de la Célula/inmunología , Niño , Preescolar , Células Clonales/inmunología , Células Clonales/fisiología , ADN/análisis , Femenino , Reordenamiento Génico de Cadena Pesada de Linfocito B/genética , Reordenamiento Génico de Linfocito T/genética , Humanos , Inmunofenotipificación , Incidencia , Lactante , Israel/epidemiología , Masculino , Leucemia-Linfoma Linfoblástico de Células Precursoras/epidemiología , Pronóstico , Recurrencia , Linfocitos T/inmunología , Linfocitos T/fisiología , Factores de Tiempo
20.
Am J Med Genet ; 24(1): 179-96, 1986 May.
Artículo en Inglés | MEDLINE | ID: mdl-2939718

RESUMEN

Deficiency of hexosaminidase A (Hex A) in adults was found in 15 individuals from nine unrelated Ashkenazi families; 14 individuals had neurological symptoms, one was clinically intact. Clinical, biochemical and genetic findings are reported and compared to previously reported cases. The clinical picture varied between and within families and included spinocerebellar, various motor neuron and cerebellar syndromes. Psychosis appeared in 30% of cases. Involvement of three generations was recorded in one family. The phenotype appears too variable to serve as a basis for genetic classification. The level of Hex A activity in serum, leukocytes, and fibroblasts of all 14 patients was in the range of Tay-Sachs disease (TSD) homozygotes when measured by the routine heat-inactivation method. More sensitive and direct methods detected some residual activity. Cultured skin fibroblasts of patients synthesize the alpha and beta chain precursors of Hex A of the same molecular weight as that synthesized by normal fibroblasts. However, the amount of the alpha chain precursor is greatly reduced. Mature chains were not detected. The one healthy adult we studied displayed a nonuniform distribution of Hex A; while it lacked activity in the serum it had intermediate activity in fibroblasts and leukocytes.


Asunto(s)
Hexosaminidasas/deficiencia , Enfermedad de Sandhoff/enzimología , Adolescente , Adulto , Anciano , Enfermedades Cerebelosas/enzimología , Niño , Electromiografía , Ataxia de Friedreich/enzimología , Asesoramiento Genético , Hexosaminidasa A , Hexosaminidasas/genética , Humanos , Peso Molecular , Músculos/patología , Neuronas/patología , Diagnóstico Prenatal , Trastornos Psicóticos/enzimología , Enfermedad de Sandhoff/genética , Enfermedad de Sandhoff/fisiopatología , beta-N-Acetilhexosaminidasas
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