Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 40
Filtrar
1.
Front Psychol ; 12: 733896, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34880806

RESUMEN

How do athletes represent actions from their sport? How are these representations structured and which knowledge is shared among experts in the same discipline? To address these questions, the event segmentation task was used. Experts in Taekwondo and novices indicated how they would subjectively split videos of Taekwondo form sequences into meaningful units. In previous research, this procedure was shown to unveil the structure of internal action representations and to be affected by sensorimotor knowledge. Without specific instructions on the grain size of segmentation, experts tended to integrate over longer episodes which resulted in a lower number of single units. Moreover, in accordance with studies in figure-skating and basketball, we expected higher agreement among experts on where to place segmentation marks, i.e., boundaries. In line with this hypothesis, significantly more overlap of boundaries was found within the expert group as compared to the control group. This was observed even though the interindividual differences in the selected grain size were huge and expertise had no systematic influence here. The absence of obvious goals or objects to structure Taekwondo forms underlines the importance of shared expert knowledge. Further, experts might have benefited from sensorimotor skills which allowed to simulate the observed actions more precisely. Both aspects may explain stronger agreement among experts even in unfamiliar Taekwondo forms. These interpretations are descriptively supported by the participants' statements about features which guided segmentation and by an overlap of the group's agreed boundaries with those of an experienced referee. The study shows that action segmentation can be used to provide insights into structure and content of action representations specific to experts. The mechanisms underlying shared knowledge among Taekwondoists and among experts in general are discussed on the background of current theoretic frameworks.

2.
Pneumologie ; 74(10): 684-694, 2020 Oct.
Artículo en Alemán | MEDLINE | ID: mdl-33059374

RESUMEN

The contingent of VATS (video assistend thoracic surgery) lobectomies will continue to increase in the time to come. Thoracic surgery departments that do not integrate this procedure into their routine spectrum will have to justify themselves to referrers and clinic administrations and will have problems with the recruitment of training assistants as well. The advantages of minimally invasive lobectomy are impressive and the long-term oncological results are equivalent to open lobectomy. VATS lobectomies in non-intubated patients will increase significantly in the next few years and further reduce the invasiveness of the operation. The number of clinics that offer RATS (roboter assistend thoracic surgery) lobectomies will also increase as more companies bring robot systems onto the market, making them significantly cheaper. Better screening programs for risk patients for lung cancer, rapid advances in thoracic oncology and further minimization of surgical trauma in lung resections will significantly improve the overall therapy and prognosis for lung cancer patients in the years to come.


Asunto(s)
Neoplasias Pulmonares/cirugía , Procedimientos Quirúrgicos Mínimamente Invasivos/métodos , Neumonectomía/métodos , Cirugía Torácica Asistida por Video/métodos , Humanos , Neoplasias Pulmonares/patología , Neumonectomía/efectos adversos , Pronóstico , Cirugía Torácica , Cirugía Torácica Asistida por Video/efectos adversos , Resultado del Tratamiento
3.
Front Immunol ; 10: 12, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30733715

RESUMEN

The formation of neutrophil extracellular traps (NETs) is an immune defense mechanism of neutrophilic granulocytes. Moreover, it is also involved in the pathogenesis of autoimmune, inflammatory, and neoplastic diseases. For that reason, the process of NET formation (NETosis) is subject of intense ongoing research. In vitro approaches to quantify NET formation are commonly used and involve neutrophil stimulation with various activators such as phorbol 12-myristate 13-acetate (PMA), lipopolysaccharides (LPS), or calcium ionophores (CaI). However, the experimental conditions of these experiments, particularly the media and media supplements employed by different research groups, vary considerably, rendering comparisons of results difficult. Here, we present the first standardized investigation of the influence of different media supplements on NET formation in vitro. The addition of heat-inactivated (hi) fetal calf serum (FCS), 0.5% human serum albumin (HSA), or 0.5% bovine serum albumin (BSA) efficiently prevented NET formation of human neutrophils following stimulation with LPS and CaI, but not after stimulation with PMA. Thus, serum components such as HSA, BSA and hiFCS (at concentrations typically found in the literature) inhibit NET formation to different degrees, depending on the NETosis inducer used. In contrast, in murine neutrophils, NETosis was inhibited by FCS and BSA, regardless of the inducer employed. This shows that mouse and human neutrophils have different susceptibilities toward the inhibition of NETosis by albumin or serum components. Furthermore, we provide experimental evidence that albumin inhibits NETosis by scavenging activators such as LPS. We also put our results into the context of media supplements most commonly used in NET research. In experiments with human neutrophils, either FCS (0.5-10%), heat-inactivated (hiFCS, 0.1-10%) or human serum albumin (HSA, 0.05-2%) was commonly added to the medium. For murine neutrophils, serum-free medium was used in most cases for stimulation with LPS and CaI, reflecting the different sensitivities of human and murine neutrophils to media supplements. Thus, the choice of media supplements greatly determines the outcome of experiments on NET-formation, which must be taken into account in NETosis research.


Asunto(s)
Trampas Extracelulares/efectos de los fármacos , Neutrófilos/efectos de los fármacos , Albúmina Sérica/farmacología , Suero , Animales , Biomarcadores , Ionóforos de Calcio/farmacología , Bovinos , Trampas Extracelulares/inmunología , Trampas Extracelulares/metabolismo , Humanos , Inmunohistoquímica , Lipopolisacáridos/inmunología , Lipopolisacáridos/farmacología , Ratones , Neutrófilos/inmunología , Neutrófilos/metabolismo , Unión Proteica , Suero/metabolismo , Albúmina Sérica Bovina/metabolismo , Albúmina Sérica Bovina/farmacología , Acetato de Tetradecanoilforbol/farmacología
4.
Zentralbl Chir ; 139 Suppl 1: S34-8, 2014 Sep.
Artículo en Alemán | MEDLINE | ID: mdl-25264721

RESUMEN

Video-assisted thoracic surgery (VATS) procedures might reduce operative stress by minimising operative trauma. However VATS, in particular VATS lobectomy, is still associated with moderate acute postoperative pain. A gold standard for regional analgesia for VATS procedures has not yet surfaced, the studies published so far are very heterogeneous. PVB and catheter techniques might have a positive effect on pain scores in the first few hours of the postoperative period. Although thoracic epidural analgesia (TEA) may not have been shown to be superior to other analgesic regimens, it is undoubtedly efficient as an analgesic treatment. With the increasing popularity of VATS procedures, there is growing demand from both surgeons and anaesthesiologists for an evidence-based approach to pain management for these procedures. Further studies on this topic are crucial to establish guidelines for pain management in VATS procedures.


Asunto(s)
Analgesia Epidural , Manejo del Dolor/métodos , Dolor Postoperatorio/tratamiento farmacológico , Neumonectomía , Cirugía Torácica Asistida por Video , Humanos , Dimensión del Dolor , Dolor Postoperatorio/prevención & control , Neumonectomía/métodos , Cirugía Torácica Asistida por Video/métodos
5.
Mucosal Immunol ; 5(1): 19-29, 2012 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-21937985

RESUMEN

Neisseria gonorrhoeae is a common bacterial sexually transmitted infection. Like all Gram-negative bacteria, the outer membrane of the gonococcus is rich in endotoxin, a known ligand for Toll-like receptor (TLR)4. However, the role of endotoxin and that of its cognate receptor TLR4 in the mucosal response to acute gonococcal infection in the genital tract of women is unclear. To test this, we examined the course of infection after vaginal inoculation of N. gonorrhoeae in mice carrying the Lps(d) mutation in Tlr4, which renders them unresponsive to endotoxin. Although there was no difference in the duration of colonization, Lps(d) mice had a significantly higher peak bacterial burden which coincided with a massive polymorphonuclear cell influx and concomitant upregulation of a subset of inflammatory cytokine and chemokine markers. Notably, infected Lps(d) mice showed a decrease in interleukin-17, suggesting that Th17 responses are more dependent on TLR4 signaling in vivo. Defective polymorphonuclear cell-mediated and complement-independent serum killing of gonococci in Lps(d) mice was also observed and may account for the increased bacterial burden. This is the first in vivo evidence that TLR4-regulated factors modulate early inflammatory responses to gonococcal infection in the female reproductive tract and control bacterial replication.


Asunto(s)
Gonorrea/inmunología , Neisseria gonorrhoeae/fisiología , Células Th17/metabolismo , Receptor Toll-Like 4/metabolismo , Animales , Movimiento Celular/genética , Movimiento Celular/inmunología , Células Cultivadas , Citocinas/genética , Citocinas/metabolismo , Citotoxicidad Inmunológica/genética , Citotoxicidad Inmunológica/inmunología , Modelos Animales de Enfermedad , Femenino , Gonorrea/genética , Humanos , Mediadores de Inflamación/metabolismo , Ratones , Ratones Endogámicos BALB C , Ratones Endogámicos C3H , Ratones Mutantes , Mutación/genética , Neisseria gonorrhoeae/patogenicidad , Transducción de Señal/genética , Transducción de Señal/inmunología , Células Th17/inmunología , Células Th17/patología , Receptor Toll-Like 4/genética , Receptor Toll-Like 4/inmunología , Regulación hacia Arriba
7.
Chirurg ; 76(11): 1058-63, 2005 Nov.
Artículo en Alemán | MEDLINE | ID: mdl-16079967

RESUMEN

There is a shortage of new surgeons in Germany. The blame for this is laid on poor working and training conditions in German hospitals. Professional associations suggest restructuring teaching plans to improve surgical education. The study conditions, postgraduate education, and surgical training in a thoracic surgical department are presented as a model curriculum. Surgical training can be structured. Curricula can be delineated for colleagues and applicants and comply with quality management standards. Clear and fair courses would improve surgical training and satisfy the expectations of contemporary surgeons.


Asunto(s)
Educación de Postgrado en Medicina/normas , Modelos Educacionales , Cirugía Torácica/educación , Curriculum/normas , Alemania , Humanos , Internado y Residencia/normas , Área sin Atención Médica , Gestión de la Calidad Total/normas , Recursos Humanos
8.
Clin Microbiol Infect ; 11(6): 457-65, 2005 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-15882195

RESUMEN

Screening of potential MRSA-positive patients at hospital admission is recommended in German and international guidelines. This policy has been shown to be effective in reducing the frequency of nosocomial MRSA transmissions in the event of an outbreak, but the influence of screening on reducing hospital-acquired MRSA infections in a hospital setting where MRSA is endemic is not yet well-documented. This study describes the effect of hospital-wide screening of defined risk groups in a 700-bed acute care hospital during a period of 19 months. In a cohort study with a 19-month control period, the frequencies of hospital-acquired MRSA infections were compared with and without screening. In the control period, there were 119 MRSA-positive patients, of whom 48 had a hospital-acquired MRSA infection. On the basis of this frequency, a predicted total of 73.2 hospital-acquired MRSA infections was calculated for the screening period, but only 52% of the expected number (38 hospital-acquired MRSA infections) were observed, i.e., 48% of the predicted number of hospital-acquired MRSA infections were prevented by the screening programme. The screening programme was performed with minimal effort and can therefore be recommended as an effective measure to help prevent hospital-acquired MRSA infections.


Asunto(s)
Infección Hospitalaria/prevención & control , Infecciones Estafilocócicas/prevención & control , Staphylococcus aureus/aislamiento & purificación , Anciano , Portador Sano/epidemiología , Infección Hospitalaria/epidemiología , Femenino , Alemania/epidemiología , Hospitales Universitarios , Humanos , Incidencia , Control de Infecciones , Masculino , Tamizaje Masivo , Resistencia a la Meticilina/genética , Persona de Mediana Edad , Admisión del Paciente , Aislamiento de Pacientes/normas , Infecciones Estafilocócicas/epidemiología , Staphylococcus aureus/genética
9.
Clin Microbiol Infect ; 11(6): 466-71, 2005 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-15882196

RESUMEN

The costs of a hospital-wide selective screening programme were analysed for a period of 19 months. During this time, 539 inpatients were screened, of whom 111 were MRSA-positive. Based on microbiological costs (staff and materials) and the costs of preventive contact isolation for 2 days until microbiological results were available (including material costs for medical consumable goods and the costs of additional nursing time), a total of 26,241.51 Euro was spent for the 539 patients screened. Based on cost units, the costs were 39.96 Euro for a patient found to be MRSA-negative and 82.33 Euro for a patient found to be MRSA-positive. Under the prospective diagnosis related groups (DRG) payment system in Germany, the costs of a prolonged hospital stay resulting from a hospital-acquired MRSA infection (HA-MRSA-I) are not reimbursed adequately by revenues, with a calculated average cost-revenue loss/patient with HA-MRSA-I of 5705.75 Euro. The screening programme was able to prevent 48% of predicted HA-MRSA-Is (35.2 patients with infection), thereby saving a predicted 200,782.73 Euro. After subtracting the screening costs, there was a net saving of 110,236.56 Euro annually. A sensitivity analysis of the break-even points for different screening frequencies and different MRSA incidence rates indicated that the screening programme became cost-effective at a low MRSA incidence rate, meaning that it can be recommended for most hospitals with an MRSA problem.


Asunto(s)
Portador Sano/economía , Costos y Análisis de Costo , Tamizaje Masivo/economía , Infecciones Estafilocócicas/economía , Staphylococcus aureus/aislamiento & purificación , Portador Sano/epidemiología , Infección Hospitalaria/economía , Infección Hospitalaria/epidemiología , Grupos Diagnósticos Relacionados/economía , Economía Hospitalaria , Alemania/epidemiología , Humanos , Control de Infecciones/economía , Resistencia a la Meticilina/genética , Infecciones Estafilocócicas/epidemiología , Staphylococcus aureus/genética
10.
Plant Physiol ; 127(3): 832-41, 2001 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-11706166

RESUMEN

A novel protein elicitor (PaNie(234)) from Pythium aphanidermatum (Edson) Fitzp. was purified, microsequenced, and the corresponding cDNA was cloned. The deduced amino acid sequence contains a putative eukaryotic secretion signal with a proteinase cleavage site. The heterologously expressed elicitor protein without the secretion signal of 21 amino acids (PaNie(213)) triggered programmed cell death and de novo formation of 4-hydroxybenzoic acid in cultured cells of carrot (Daucus carota). Programmed cell death was determined using the tetrazolium assay and DNA laddering. Infiltration of PaNie(213) into the intercellular space of leaves of Arabidopsis (Columbia-0, wild type) resulted in necroses and deposition of callose on the cell walls of spongy parenchyma cells surrounding the necrotic mesophyll cells. Necroses were also formed in tobacco (Nicotiana tabacum cv Wisconsin W38, wild type) and tomato (Lycopersicon esculentum Mill.) but not in maize (Zea mays), oat (Avena sativa), and Tradescantia zebrina (Bosse), indicating that monocotyledonous plants are unable to perceive the signal. The reactions observed after treatment with the purified PaNie(213) were identical to responses measured after treatment with a crude elicitor preparation from the culture medium of P. aphanidermatum, described previously. The availability of the pure protein offers the possibility to isolate the corresponding receptor and its connection to downstream signaling-inducing defense reactions.


Asunto(s)
Proteínas Algáceas/fisiología , Arabidopsis/fisiología , Daucus carota/fisiología , Proteínas Fúngicas/fisiología , Nicotiana/fisiología , Pythium/fisiología , Zea mays/fisiología , Adaptación Fisiológica , Proteínas Algáceas/genética , Proteínas Algáceas/aislamiento & purificación , Secuencia de Aminoácidos , Apoptosis/genética , Apoptosis/fisiología , Arabidopsis/microbiología , Células Cultivadas , Cromatina/metabolismo , Clonación Molecular , ADN Complementario , Daucus carota/microbiología , Proteínas Fúngicas/genética , Proteínas Fúngicas/aislamiento & purificación , Regulación de la Expresión Génica de las Plantas , Biblioteca Genómica , Glucanos/metabolismo , Datos de Secuencia Molecular , Parabenos/metabolismo , Transducción de Señal , Nicotiana/microbiología , Zea mays/microbiología
11.
Plant Sci ; 161(2): 315-322, 2001 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-11448762

RESUMEN

Two cell lines of Daucus carota are known to differ with respect to anthocyanin accumulation. cDNA clones encoding enzymes involved in anthocyanidin biosynthesis, namely phenylalanine ammonia-lyase (PAL; EC 4.3.1.5), chalcone synthase (CHS; EC 2.3.1.74), flavanone 3-hydroxylase (F3H; EC 1.14.11.9), dihydroflavonol 4-reductase (DFR; EC 1.1.1.219) and leucoanthocyanidin dioxygenase (LDOX; EC 1.14.11.-), were isolated from libraries derived from cell cultures. Northern blot analysis of anthocyanin-accumulating (DCb) and non-accumulating (DCs) cell cultures of carrot showed that the anthocyanin pathway in these anthocyanin-free DCs cells is blocked. The expression of CHS1, DFR1 and LDOX is not detectable. However, F3H and DFR2 behave differently. In the European wild carrot (Daucus carota ssp. carota) the structural genes coding for the enzymes responsible for anthocyanin biosynthesis are strongly expressed in organs which accumulate anthocyanins. Only the dark-purple coloured petals of the central flowers of the inflorescence and to a certain extent the white flowers and the leaves but not the stems and the roots transcribe these genes. To study the effect of anthocyanins as UV-screens the expression of a protein indispensable for cell proliferation like alpha-tubulin (TUB) was monitored.

13.
J Org Chem ; 65(22): 7575-82, 2000 Nov 03.
Artículo en Inglés | MEDLINE | ID: mdl-11076617

RESUMEN

The synthesis of rod- and star-shaped compounds carrying two or three spin labels as end groups is described. The unpaired electrons are 2.8-5.1 nm apart from each other. The shape-persistent scaffolds were obtained through Pd-Cu-catalyzed alkynyl-aryl coupling and Pd-Cu-catalyzed alkyne dimerization in the presence of oxygen using p-phenyleneethynylene as the basic shape-persistent building block. The spin label 1-oxyl-2,2,5,5-tetramethylpyrroline-3-carboxylic acid (4) was attached through esterification of the terminal phenolic OH groups of the scaffold.

14.
Am J Obstet Gynecol ; 182(4): 955-61, 2000 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-10764480

RESUMEN

OBJECTIVE: We sought to investigate maternal and fetal nitroglycerin metabolization and to assess the clinical condition of neonates after intravenous nitroglycerin application during cesarean delivery. STUDY DESIGN: At the time of the uterine puncture incision, either 0. 25 mg or 0.5 mg nitroglycerin or a physiologic sodium chloride solution was administered as an intravenous bolus. Plasma concentrations of nitroglycerin and its metabolites were measured in maternal venous blood and in umbilical blood samples taken immediately after cord clamping. Arterial blood pressure, pulse rates, and Apgar scores were recorded for the neonates 1, 5, and 10 minutes after birth. RESULTS: Sixty-two patients were included in the pharmacokinetic study. Median maternal plasma levels 1 and 5 minutes after injection of 0.5 mg nitroglycerin were 80 and 3.2 ng/mL, respectively; median maternal plasma levels 1 and 5 minutes after injection of 0.25 mg nitroglycerin were 38 and 1.2 ng/mL, respectively. In the umbilical vein 1 minute after application of 0. 5 mg or 0.25 mg nitroglycerin, the plasma levels were 0.41 and 0.09 ng/mL, respectively, and in the umbilical artery they were 0.03 and 0.008 ng/mL, respectively. Circulatory parameters and Apgar scores in the neonates did not differ significantly from those found in the placebo group. CONCLUSION: The level of nitroglycerin in umbilical plasma was two to three orders of magnitude lower than that found in maternal plasma and clearly in a subtherapeutic range. There was no indication that prenatal application of nitroglycerin to facilitate obstetric management is hazardous for neonates.


Asunto(s)
Cesárea , Sangre Fetal , Cuidados Intraoperatorios , Nitroglicerina/sangre , Nitroglicerina/uso terapéutico , Embarazo/sangre , Adolescente , Adulto , Femenino , Humanos , Recién Nacido , Inyecciones Intravenosas , Persona de Mediana Edad , Arterias Umbilicales , Venas Umbilicales
15.
J Magn Reson ; 142(2): 331-40, 2000 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-10648151

RESUMEN

A four-pulse version of the pulse double electron-electron resonance (DEER) experiment is presented, which is designed for the determination of interradical distances on a nanoscopic length-scale. With the new pulse sequence electron-electron couplings can be studied without dead-time artifacts, so that even broad distributions of electron-electron distances can be characterized. A version of the experiment that uses a pulse train in the detection period exhibits improved signal-to-noise ratio. Tests on two nitroxide biradicals with known length indicate that the accessible range of distances extends from about 1.5 to 8 nm. The four-pulse DEER spectra of an ionic spin probe in an ionomer exhibit features due to probe molecules situated both on the same and on different ion clusters. The former feature provides information on the cluster size and is inaccessible with previous methods.


Asunto(s)
Espectroscopía de Resonancia por Spin del Electrón/métodos
17.
Mol Psychiatry ; 3(4): 346-9, 1998 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-9702745

RESUMEN

Bipolar spectrum disorders are recurrent illnesses characterized by episodes of depression, hypomania, mania or the appearance of mixed states. Great variability is evident in the frequency of episode recurrence and duration. In addition to regular circannual episodes, a spectrum of cycle frequencies has been observed, from the classical rapid cycling (RC) pattern of four or more episodes per year, to those with distinct shifts of mood and activity occurring within a 24-48 h period, described as ultra-ultra rapid cycling (UURC) or ultradian cycling. RC has a female preponderance, and occurs with greater frequency premenstrually, at the puerperium and at menopause. Tricyclic antidepressants and MAOIs, both of which increase functional monoamines norepinephrine, dopamine and serotonin, are known to precipitate mania or rapid-cycling in an estimated 20-30% of affectively ill patients. We have recently reported a strong association between velo-cardio-facial syndrome (VCFS) patients diagnosed with rapid-cycling bipolar disorder, and an allele encoding the low enzyme activity catechol-O-methyltransferase variant (COMT L). Between 85-90% of VCFS patients are hemizygous for COMT. Homozygosity for the low activity allele (COMT LL) is associated with a 3-4 fold reduction of COMT enzyme activity compared with homozygotes for the high activity variant (COMT HH). There is nearly an equal distribution of L and H alleles in Caucasians. Individuals with COMT LL would be expected to have higher levels of transynaptic catecholamines due to a reduced COMT degradation of norepinephrine and dopamine. We therefore hypothesized that the frequency of COMT L would be greater in RC BPD ascertained from the general population. Significantly, we found that the frequency of COMT L was higher in the UURC variant of BPD than among all other groups studied (P = 0.002). These findings indicate that COMT L could represent a modifying gene that predisposes to ultra-ultra or ultradian cycling in patients with bipolar disorder.


Asunto(s)
Trastorno Bipolar/genética , Catecol O-Metiltransferasa/genética , Variación Genética , Polimorfismo Genético , Adulto , Edad de Inicio , Anciano , Alelos , Trastorno Bipolar/enzimología , Trastorno Bipolar/psicología , Femenino , Genotipo , Humanos , Masculino , Persona de Mediana Edad
18.
Am J Hum Genet ; 60(4): 851-9, 1997 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-9106531

RESUMEN

Velo-cardio-facial syndrome (VCFS) is characterized by conotruncal cardiac defects, cleft palate, learning disabilities, and characteristic facial appearance and is associated with hemizygous deletions within 22q11. A newly recognized clinical feature is the presence of psychiatric illness in children and adults with VCFS. To ascertain the relationship between psychiatric illness, VCFS, and chromosome 22 deletions, we evaluated 26 VCFS patients by clinical and molecular biological methods. The VCFS children and adolescents were found to share a set of psychiatric disorders, including bipolar spectrum disorders and attention-deficit disorder with hyperactivity. The adult patients, >18 years of age, were affected with bipolar spectrum disorders. Four of six adult patients had psychotic symptoms manifested as paranoid and grandiose delusions. Loss-of-heterozygosity analysis of all 26 patients revealed that all but 3 had a large 3-Mb common deletion. One patient had a nested distal deletion and two did not have a detectable deletion. Somatic cell hybrids were developed from the two patients who did not have a detectable deletion within 22q11 and were analyzed with a large number of sequence tagged sites. A deletion was not detected among the two patients at a resolution of 21 kb. There was no correlation between the phenotype and the presence of the deletion within 22q11. The remarkably high prevalence of bipolar spectrum disorders, in association with the congenital anomalies of VCFS and its occurrence among nondeleted VCFS patients, suggest a common genetic etiology.


Asunto(s)
Anomalías Múltiples/genética , Cromosomas Humanos Par 22 , Trastornos Mentales/genética , Anomalías Múltiples/etiología , Adolescente , Adulto , Trastorno por Déficit de Atención con Hiperactividad/genética , Trastorno Bipolar/genética , Niño , Preescolar , Cara/anomalías , Femenino , Marcadores Genéticos , Haplotipos , Cardiopatías Congénitas/genética , Humanos , Hibridación Fluorescente in Situ , Masculino , Trastornos Mentales/etiología , Linaje , Eliminación de Secuencia
19.
J Infect Dis ; 175(2): 265-71, 1997 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-9203646

RESUMEN

Because mucosal immune responses may be important in protection against human immunodeficiency virus type 1 (HIV-1), HIV-1-specific immune responses at mucosal sites in natural infection were compared. Total antibody concentrations and HIV-1-specific binding antibody responses in four distinct mucosal sites and serum were assessed in 41 HIV-infected and 19 HIV-seronegative women. HIV-1 gp160-specific IgG responses were detected in >99% of mucosal samples in infected subjects, with the highest titers in genital secretions. HIV-1-specific IgA was detected in the majority of endocervical secretions (94%) and nasal washes (95%) but less often in vaginal washes (51%) and parotid saliva (38%). There was no significant correlation between mucosal immune response and most clinical factors. Based on methodologic considerations, frequencies of detection, and HIV-1-specific responses, nasal washes and genital secretions may each provide important measures of HIV-1-specific mucosal immune responses in infected women.


Asunto(s)
Anticuerpos Anti-VIH/análisis , Anticuerpos Anti-VIH/inmunología , Infecciones por VIH/inmunología , VIH-1/inmunología , Inmunidad Mucosa , Adulto , Anciano , Cuello del Útero/inmunología , Femenino , Genitales Femeninos/inmunología , Proteínas gp160 de Envoltorio del VIH/inmunología , Humanos , Inmunoglobulina A/análisis , Inmunoglobulina A/inmunología , Inmunoglobulina G/análisis , Inmunoglobulina G/inmunología , Inmunoglobulina M/análisis , Inmunoglobulina M/inmunología , Inmunoglobulinas/análisis , Persona de Mediana Edad , Mucosa Nasal/inmunología , Glándula Parótida/inmunología
20.
Am J Psychiatry ; 153(12): 1541-7, 1996 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-8942449

RESUMEN

OBJECTIVE: The purpose of this study was to conduct a systematic assessment of psychiatric illness in patients diagnosed with velo-cardio-facial syndrome, a genetic syndrome that involves over 40 somatic anomalies, learning disabilities, and behavioral disorders and is associated with a microdeletion on chromosome 22q11. METHOD: Subjects were referred for psychiatric diagnostic evaluation without regard to age or previous psychiatric history. In order to establish DSM-III-R consensus clinical diagnoses for patients who ranged in age from 5 to 34 years, the Diagnostic Interview for Children and Adolescents--Revised or the Structured Clinical Interview for DSM-III-R (SCID) was used. A review of available medical and psychiatric records and a clinical interview performed by two research psychiatrists to validate specific symptoms and syndromes reported in the Diagnostic Interview for Children and Adolescents--Revised and the SCID were used to elucidate the chronological appearance and duration of symptoms. RESULTS: Sixty-four percent (N = 16 of 25) of this unselected series of patients with velo-cardio-facial syndrome met DSM-III-R criteria for a spectrum of bipolar disorders with full syndromal onset in late childhood or early adolescence (mean age at onset = 12 years, SD = 3). In addition, 20% (N = 5) met DSM-III-R criteria for attention deficit hyperactivity disorder (ADHD), while 16% (N = 4) met criteria for attention deficit disorder without hyperactivity. In contrast to previous reports of a high prevalence of schizophrenia, none of the patients was diagnosed with schizophrenia, and only four had psychotic symptoms during a phase of their illness, all in their 20s or 30s. CONCLUSIONS: Given that the prevalence of bipolar disorder in the general population is estimated to be 1.5% and that the average age at onset is 24, these findings support an unusually strong association between velo-cardio-facial syndrome and early-onset bipolar disorder and suggest that a gene deleted at the 22q11 chromosomal locus may be involved in its pathogenesis. If confirmed, these findings may provide a new and fruitful line of investigation into the molecular basis of bipolar spectrum disorders.


Asunto(s)
Anomalías Múltiples/genética , Trastorno Bipolar/genética , Deleción Cromosómica , Cromosomas Humanos Par 22/genética , Anomalías Múltiples/epidemiología , Anomalías Múltiples/psicología , Adolescente , Adulto , Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Trastorno por Déficit de Atención con Hiperactividad/epidemiología , Trastorno por Déficit de Atención con Hiperactividad/genética , Trastorno Bipolar/diagnóstico , Trastorno Bipolar/epidemiología , Niño , Preescolar , Comorbilidad , Trastorno Distímico/diagnóstico , Trastorno Distímico/epidemiología , Trastorno Distímico/genética , Femenino , Humanos , Masculino , Escalas de Valoración Psiquiátrica , Trastornos Psicóticos/diagnóstico , Trastornos Psicóticos/epidemiología , Trastornos Psicóticos/genética , Síndrome
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA