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1.
Health Promot Pract ; 24(3): 566-570, 2023 05.
Artículo en Inglés | MEDLINE | ID: mdl-35128949

RESUMEN

In the United States, Black men and women who are incarcerated bear a disproportionate and inequitable burden of HIV infection. While HIV knowledge does not consistently predict HIV risk behaviors, HIV knowledge can inform one's perceptions of their risk for HIV. We examined gender differences in HIV knowledge and perceived risk of contracting HIV (N = 424) among Black men and women who were incarcerated and nearing community reentry from seven prisons in Kentucky. Our results demonstrated that women reported greater levels of HIV knowledge and perceived greater risk for contracting HIV than their male counterparts. Implications for HIV prevention interventions are discussed.


Asunto(s)
Síndrome de Inmunodeficiencia Adquirida , Infecciones por VIH , Prisioneros , Masculino , Humanos , Femenino , Estados Unidos , Infecciones por VIH/prevención & control , Kentucky/epidemiología , Negro o Afroamericano , Síndrome de Inmunodeficiencia Adquirida/prevención & control , Conocimientos, Actitudes y Práctica en Salud , Asunción de Riesgos , Conducta Sexual
2.
BMC Biol ; 18(1): 145, 2020 10 20.
Artículo en Inglés | MEDLINE | ID: mdl-33081771

RESUMEN

BACKGROUND: Skeletal muscle (SkM) regenerates following injury, replacing damaged tissue with high fidelity. However, in serious injuries, non-regenerative defects leave patients with loss of function, increased re-injury risk and often chronic pain. Progress in treating these non-regenerative defects has been slow, with advances only occurring where a comprehensive understanding of regeneration has been gained. Tissue engineering has allowed the development of bioengineered models of SkM which regenerate following injury to support research in regenerative physiology. To date, however, no studies have utilised human myogenic precursor cells (hMPCs) to closely mimic functional human regenerative physiology. RESULTS: Here we address some of the difficulties associated with cell number and hMPC mitogenicity using magnetic association cell sorting (MACS), for the marker CD56, and media supplementation with fibroblast growth factor 2 (FGF-2) and B-27 supplement. Cell sorting allowed extended expansion of myogenic cells and supplementation was shown to improve myogenesis within engineered tissues and force generation at maturity. In addition, these engineered human SkM regenerated following barium chloride (BaCl2) injury. Following injury, reductions in function (87.5%) and myotube number (33.3%) were observed, followed by a proliferative phase with increased MyoD+ cells and a subsequent recovery of function and myotube number. An expansion of the Pax7+ cell population was observed across recovery suggesting an ability to generate Pax7+ cells within the tissue, similar to the self-renewal of satellite cells seen in vivo. CONCLUSIONS: This work outlines an engineered human SkM capable of functional regeneration following injury, built upon an open source system adding to the pre-clinical testing toolbox to improve the understanding of basic regenerative physiology.


Asunto(s)
Compuestos de Bario/efectos adversos , Diferenciación Celular , Proliferación Celular , Cloruros/efectos adversos , Desarrollo de Músculos , Músculo Esquelético/fisiología , Regeneración , Bioingeniería , Humanos
3.
Postgrad Med J ; 90(1070): 680-4, 2014 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-25352675

RESUMEN

AIM: Sport and exercise medicine (SEM) aims to manage sporting injuries and promote physical activity. This study explores general practitioners' (GPs) awareness, understanding and utilisation of their local SEM services. DESIGN: A questionnaire survey, including patient case scenarios, was administered between February and May 2011. PARTICIPANTS AND SETTING: 693 GPs working in Cardiff and Vale, Leicester and Tower Hamlets were invited to participate. RESULTS: 244 GPs responded to the questionnaire (35.2% response rate). Less than half (46%; 112/244) were aware of their nearest SEM service and only 38% (92/244) had a clear understanding on referral indications. The majority (82%; 199/244) felt confident advising less active patients about exercise. There were divergent management opinions about the case scenarios of patients who were SEM referral candidates. Overall, GPs were significantly more likely to refer younger patients and patients with sport-related problems rather than patients who would benefit from increasing their activity levels in order to prevent or manage chronic conditions (p<0.01). GPs with previous SEM training were significantly more likely to refer (p<0.01). The majority (62%; 151/244) had never referred patients to their local SEM clinics but of those who had 75% (70/93) rated the service as good. CONCLUSIONS: There is a lack of awareness and understanding among GPs on the role of SEM within the National Health Service which may be resulting in suboptimal utilisation especially for patients who could benefit from increasing their activity levels.


Asunto(s)
Atención a la Salud/normas , Médicos Generales , Rol del Médico , Derivación y Consulta/estadística & datos numéricos , Medicina Deportiva , Actitud del Personal de Salud , Ejercicio Físico , Médicos Generales/psicología , Médicos Generales/estadística & datos numéricos , Encuestas de Atención de la Salud , Humanos , Relaciones Profesional-Familia , Medicina Deportiva/estadística & datos numéricos , Encuestas y Cuestionarios , Reino Unido
4.
J Fish Biol ; 82(2): 390-407, 2013 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-23398058

RESUMEN

In this study, clonal lines from North American resident and migratory populations of rainbow trout Oncorhynchus mykiss adapted to different geographical conditions and with different domestication histories were characterized morphologically. Lines reared in a common-garden experiment were characterized for external shape and meristic values, searching for a general pattern of morphological variation due to exposure to captive conditions. A sharp distinction was identified between wild and captive lines. The body profile was deeper in captive lines, with longer dorsal and anal fins and shorter and deeper caudal peduncles. Highly significant differences were also identified in meristic values among the lines but no consistent relation between meristic values and domestication status was detected. This morphological characterization will facilitate the selection of lines with divergent phenotypes for subsequent quantitative trait loci analysis, aimed at identifying genome regions linked with morphological adaptive response to captive conditions.


Asunto(s)
Animales Domésticos/anatomía & histología , Oncorhynchus mykiss/anatomía & histología , Oncorhynchus mykiss/fisiología , Animales , Explotaciones Pesqueras , Oncorhynchus mykiss/genética , Oncorhynchus mykiss/crecimiento & desarrollo , Fenotipo , Análisis de Componente Principal
5.
Perspect Public Health ; 142(4): 213-223, 2022 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-35801904

RESUMEN

AIMS: This article seeks to make the case for a new approach to understanding and nurturing resilience as a foundation for effective place-based co-produced local action on social and health inequalities. METHODS: A narrative review of literature on community resilience from a public health perspective was conducted and a new concept of neighbourhood system resilience was developed. This then shaped the development of a practical programme of action research implemented in nine socio-economically disadvantaged neighbourhoods in North West England between 2014 and 2019. This Neighbourhood Resilience Programme (NRP) was evaluated using a mixed-method design comprising: (1) a longitudinal household survey, conducted in each of the Neighbourhoods For Learning (NFLs) and in nine comparator areas in two waves (2015/2016 and 2018/2019) and completed in each phase by approximately 3000 households; (2) reflexive journals kept by the academic team; and (3) semi-structured interviews on perceptions about the impacts of the programme with 41 participants in 2019. RESULTS: A difference-in-difference analysis of household survey data showed a statistically significant increase of 7.5% (95% confidence interval (CI), 1.6 to 13.5) in the percentage of residents reporting that they felt able to influence local decision-making in the NFLs relative to the residents in comparator areas, but no effect attributable to the NRP in other evaluative measures. The analysis of participant interviews identified beneficial impacts of the NRP in five resilience domains: social connectivity, cultural coherence, local decision-making, economic activity, and the local environment. CONCLUSION: Our findings support the need for a shift away from interventions that seek solely to enhance the resilience of lay communities to interventions that recognise resilience as a whole systems phenomenon. Systemic approaches to resilience can provide the underpinning foundation for effective co-produced local action on social and health inequalities, but they require intensive relational work by all participating system players.


Asunto(s)
Características de la Residencia , Determinantes Sociales de la Salud , Humanos , Salud Pública , Factores Socioeconómicos , Poblaciones Vulnerables
6.
Nano Lett ; 10(4): 1287-92, 2010 Apr 14.
Artículo en Inglés | MEDLINE | ID: mdl-20205414

RESUMEN

Shot noise encodes additional information not directly inferable from simple electronic transport measurements. Previous measurements in atomic-scale metal junctions at cryogenic temperatures have shown suppression of the shot noise at particular conductance values. This suppression demonstrates that transport in these structures proceeds via discrete quantum channels. Using a high-frequency technique, we simultaneously acquire noise data and conductance histograms in Au junctions at room temperature and ambient conditions. We observe noise suppression at up to three conductance quanta, with possible indications of current-induced local heating and 1/f noise in the contact region at high biases. These measurements demonstrate the quantum character of transport at room temperature at the atomic scale. This technique provides an additional tool for studying dissipation and correlations in nanodevices.


Asunto(s)
Oro/química , Temperatura , Nanotecnología/instrumentación , Nanotecnología/métodos , Teoría Cuántica
7.
Sci Rep ; 11(1): 9382, 2021 04 30.
Artículo en Inglés | MEDLINE | ID: mdl-33931650

RESUMEN

When Caribbean long-spined sea urchins, Diadema antillarum, are stable at high population densities, their grazing facilitates scleractinian coral dominance. Today, populations remain suppressed after a mass mortality in 1983-1984 caused a loss of their ecosystem functions, and led to widespread declines in ecosystem health. This study provides three lines of evidence to support the assertion that a lack of habitat complexity on Caribbean coral reefs contributes to their recovery failure. Firstly, we extracted fractal dimension (D) measurements, used as a proxy for habitat complexity, from 3D models to demonstrate that urchins preferentially inhabit areas of above average complexity at ecologically relevant spatial scales. Secondly, controlled behaviour experiments showed that an energetically expensive predator avoidance behaviour is reduced by 52% in complex habitats, potentially enabling increased resource allocation to reproduction. Thirdly, we deployed a network of simple and cost-effective artificial structures on a heavily degraded reef system in Honduras. Over a 24-month period the adult D. antillarum population around the artificial reefs increased by 320% from 0.05 ± 0.01 to 0.21 ± 0.04 m-2 and the juvenile D. antillarum population increased by 750% from 0.08 ± 0.02 to 0.68 ± 0.07 m-2. This study emphasises the important role of habitat structure in the ecology of D. antillarum and as a barrier to its widespread recovery.


Asunto(s)
Arrecifes de Coral , Ecosistema , Herbivoria , Densidad de Población , Erizos de Mar/fisiología , Animales , Región del Caribe , Dinámica Poblacional
8.
Cytogenet Genome Res ; 121(3-4): 255-9, 2008.
Artículo en Inglés | MEDLINE | ID: mdl-18758167

RESUMEN

Five genetic markers previously shown to be located on the sex chromosomes of rainbow trout (Oncorhynchus mykiss) were tested for linkage with the sex locus of Yellowstone cutthroat trout (Oncorhynchus clarki bouvieri) in a genetic cross created from a rainbow x cutthroat male hybrid. We show that the sex locus of both rainbow and cutthroat trout is on the same homologous linkage group. Fluorescence in situ hybridization (FISH) using a probe for the microsatellite marker Omm1665, which maps close to the sex locus of Yellowstone cutthroat trout, was used to identify the Y chromosome of cutthroat trout in the hybrid. The Y chromosome of cutthroat trout is sub-telocentric and lacks a DAPI band found on the short arm of the Y chromosome of some rainbow trout males.


Asunto(s)
Oncorhynchus mykiss/genética , Cromosoma Y , Animales , Secuencia de Bases , Cartilla de ADN , Marcadores Genéticos , Hibridación in Situ , Hibridación Fluorescente in Situ , Cariotipificación , Masculino
9.
Int J Gynecol Cancer ; 18(4): 743-8, 2008.
Artículo en Inglés | MEDLINE | ID: mdl-17944916

RESUMEN

The purpose of the study was to assess the psychosocial impact of human papillomavirus (HPV) testing as an adjunct to cytology in routine primary cervical screening. A controlled study of the psychosocial impact of HPV testing within a randomized trial of HPV testing to assess its efficacy in cervical screening was carried out. The trial provides a randomized setting of revealed HPV results versus concealed results permitting valid comparisons for assessing true psychosocial impact. The setting comprised a large number of general practices in primary care. Women aged 20-64 years who underwent routine cervical screening participated in the study. The intervention was a revealed high-risk HPV test result in addition to cervical cytology. The main outcome was measured using General Health Questionnaire (GHQ-28), Spielberger State-Trait Anxiety Inventory, and Sexual Rating Scale (SRS). Among women with either mildly abnormal or normal cytology, receiving an HPV(+ve) result did not impact significantly on GHQ caseness and mean scores or on Spielberger State and Trait scores when compared with women in whom the HPV(+ve) test result was concealed. Among women with normal cytology, receiving an HPV(+ve) result was associated with a reduction in the Sexual Rating Scale compared with similar women whose HPV(+ve) result was concealed. HPV testing does not add significant psychologic distress when combined with cytology in routine primary cervical screening.


Asunto(s)
Tamizaje Masivo/psicología , Infecciones por Papillomavirus/diagnóstico , Frotis Vaginal/psicología , Adulto , Alphapapillomavirus/aislamiento & purificación , Femenino , Humanos , Persona de Mediana Edad , Infecciones por Papillomavirus/psicología , Lesiones Precancerosas/diagnóstico , Lesiones Precancerosas/psicología , Pronóstico , Ensayos Clínicos Controlados Aleatorios como Asunto , Encuestas y Cuestionarios , Neoplasias del Cuello Uterino/diagnóstico , Neoplasias del Cuello Uterino/psicología , Displasia del Cuello del Útero/diagnóstico , Displasia del Cuello del Útero/psicología
10.
London J Prim Care (Abingdon) ; 8(4): 48-55, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-28250834

RESUMEN

BACKGROUND: Physical inactivity is well recognised as one of the leading causes of preventable death. However, little is known about the general public's knowledge surrounding national physical activity guidelines, particularly within general practice (GP). SETTING: Two GPs (York and Maidenhead, UK). QUESTION: Are GP patients aware of the national physical guidelines? Also, are health care professionals routinely raising the issue of physical inactivity and would patients welcome support from health care professionals regarding inactivity? METHODOLOGY: A questionnaire was distributed in two GPs over a one-week period to evaluate patients knowledge of the national physical activity guidelines. RESULTS: Ninety-four participants completed the questionnaire over one week (60 female; 34 male), with an average age of 54.2 (standard deviation: 19.9 years). 14% (95% Confidence Interval (CI): 8-22%) of the total participants correctly knew the recommended national guidelines for physical activity. 52% (95% CI: 42-63%) recalled being asked by a health care professional about their activity levels. 46% (95% CI: 35-56%) would welcome support from a health care professional around improving their activity levels. DISCUSSION/CONCLUSION: Only 14% of responders correctly knew the current national minimum activity guidelines. Encouragingly 46% of participants in our study were interested in physical activity advice from a health care professional. Health care professionals need to be aware that many patients do not know the current physical activity guidelines and recognise that primary care may be an underutilised opportunity to educate and promote physical activity.

11.
Biochim Biophys Acta ; 1167(2): 182-8, 1993 Apr 07.
Artículo en Inglés | MEDLINE | ID: mdl-8466947

RESUMEN

Mycolic acids are high molecular weight hydroxy fatty acids which are a covalently linked part of the cell wall structure of all mycobacteria and their biosynthetic pathways offer potential drug targets. Three good candidates, cis-tetracos-5-enoic acid and R or S trans-6-methyl-tetracos-4-enoic acids, for the key initial intermediates where mycolic acid biosynthesis might diverge from other metabolic pathways, were tested as possible substrates. A cell-wall preparation from Mycobacterium smegmatis, capable of mycolic acid synthesis, was developed to investigate the possible incorporation of these, and other 16 to 24 carbon acids into mycolic acids. The wall preparations were extracted with hexane and suspended in hexane/water (7:1, v/v), and in this low-water assay, only one of these acids, cis-tetracos-5-enoic acid, stimulated the incorporation of radioactive label from [1-14C]acetate into alpha- and alpha'-mycolic acids. The extraction method used did, however, abolish some enzyme activity and mycolic acid biosynthesis was not completely restored by cis-tetracos-5-enoate. The two methyl-branched acids did not enhance the amount of label in epoxymycolic acids. An initial key intermediate in the synthesis of alpha- and alpha'-mycolic acids has therefore been positively identified for the first time; intermediates in the initial stages of the biosynthesis of oxygenated mycolic acids such as epoxymycolates remain to be defined.


Asunto(s)
Ácidos Grasos Monoinsaturados/farmacología , Mycobacterium/efectos de los fármacos , Ácidos Micólicos/metabolismo , S-Maloniltransferasa de la Proteína Transportadora de Grupos Acilo , Aciltransferasas , Pared Celular/efectos de los fármacos , Pared Celular/metabolismo , Ácidos Grasos/biosíntesis , Mycobacterium/metabolismo , Ácidos Micólicos/química , Solventes , Estereoisomerismo
12.
Genetics ; 148(2): 839-50, 1998 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-9504929

RESUMEN

We report the first detailed genetic linkage map of rainbow trout (Oncorhynchus mykiss). The segregation analysis was performed using 76 doubled haploid rainbow trout produced by androgenesis from a hybrid between the "OSU" and "Arlee" androgenetically derived homozygous lines. Four hundred and seventy-six markers segregated into 31 major linkage groups and 11 small groups (< 5 markers/group). The minimum genome size is estimated to be 2627.5 cM in length. The sex-determining locus segregated to a distal position on one of the linkage groups. We analyzed the chromosomal distribution of three classes of markers: (1) amplified fragment length polymorphisms, (2) variable number of tandem repeats, and (3) markers obtained using probes homologous to the 5' or 3' end of salmonid-specific small interspersed nuclear elements. Many of the first class of markers were clustered in regions that appear to correspond to centromeres. The second class of markers were more telomeric in distribution, and the third class were intermediate. Tetrasomic inheritance, apparently related to the tetraploid ancestry of salmonid fishes, was detected at one simple sequence repeat locus and suggested by the presence of one extremely large linkage group that appeared to consist of two smaller groups linked at their tips. The double haploid rainbow trout lines and linkage map present a foundation for further genomic studies.


Asunto(s)
Mapeo Cromosómico , Ligamiento Genético/genética , Oncorhynchus mykiss/genética , Ploidias , Animales , Centrómero/genética , Cromosomas/genética , Marcadores Genéticos/genética , Repeticiones de Minisatélite/genética , Polimorfismo Genético/genética , Polimorfismo de Longitud del Fragmento de Restricción , Telómero/genética
13.
Br J Sports Med ; 39(2): 65-9, 2005 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-15665197

RESUMEN

A literature search was performed to determine whether non-steroidal anti-inflammatory drugs (NSAIDs) adversely affect the healing of stress fractures. Evidence exists from laboratory studies and animal subjects that NSAIDs can affect fracture healing. This link has not been proved or disproved in human subjects, particularly for stress fractures. In view of the high usage of NSAIDs in treating musculoskeletal disorders, research is required to investigate whether the healing of stress fractures is affected by these drugs.


Asunto(s)
Antiinflamatorios no Esteroideos/efectos adversos , Curación de Fractura/efectos de los fármacos , Fracturas por Estrés/fisiopatología , Humanos , Inflamación/tratamiento farmacológico , Dolor/tratamiento farmacológico , Prostaglandina-Endoperóxido Sintasas/efectos de los fármacos
14.
J Med Chem ; 39(26): 5100-9, 1996 Dec 20.
Artículo en Inglés | MEDLINE | ID: mdl-8978841

RESUMEN

Oligonucleotides containing 2'-O-aminopropyl-substituted RNA have been synthesized. The 2'-O-(aminopropyl)adenosine (APA), 2'-O-(aminopropyl)cytidine (APC), 2'-O-(aminopropyl)-guanosine (APG), and 2'-O-(aminopropyl)uridine (APU) have been prepared in high yield from the ribonucleoside, protected, and incorporated into an oligonucleotide using conventional phosphoramidite chemistry. Molecular dynamics studies of a dinucleotide in water demonstrates that a short alkylamine located off the 2'-oxygen of ribonucleotides alters the sugar pucker of the nucleoside but does not form a tight ion pair with the proximate phosphate. A 5-mer with the sequence ACTUC has been characterized using NMR. As predicted from the modeling results, the sugar pucker of the APU moiety is shifted toward a C3'-endo geometry. In addition, the primary amine rotates freely and is not bound electrostatically to any phosphate group, as evidenced by the different sign of the NOE between sugar proton resonances and the signals from the propylamine chain. Incorporation of aminopropyl nucleoside residues into point-substituted and fully modified oligomers does not decrease the affinity for complementary RNA compared to 2'-O-alkyl substituents of the same length. However, two APU residues placed at the 3'-terminus of an oligomer gives a 100-fold increase in resistance to exonuclease degradation, which is greater than observed for phosphorothioate oligomers. These structural and biophysical characteristics make the 2'-O-aminopropyl group a leading choice for incorporation into antisense therapeutics. A 20-mer phosphorothioate oligonucleotide capped with two phosphodiester aminopropyl nucleotides targeted against C-raf mRNA has been transfected into cells via electroporation. This oligonucleotide has 5-10-fold greater activity than the control phosphorothioate for reducing the abundance of C-raf mRNA and protein.


Asunto(s)
Exonucleasas/metabolismo , Oligonucleótidos Antisentido/farmacología , Ribonucleótidos/química , Espectroscopía de Resonancia Magnética , Modelos Moleculares , Hibridación de Ácido Nucleico , Proteínas Serina-Treonina Quinasas/genética , Proteínas Proto-Oncogénicas/genética , Proteínas Proto-Oncogénicas c-raf
15.
Transplantation ; 72(3): 369-76, 2001 Aug 15.
Artículo en Inglés | MEDLINE | ID: mdl-11502963

RESUMEN

BACKGROUND: In this study, we have investigated the mechanisms involved in both the induction of suppressive anergy, the stability of the anergy induced, and the possible mechanisms by which the response of immunocompetent CD4+ T cells are suppressed. METHODS: We used immobilized anti-CD3 monoclonal antibody (mAb) to induce anergy in T helper (Th) 1 and Th0 cells reactive with MHC class II molecule H2 I-Ab. RESULTS: We observed that suppressive anergy was induced independently of costimulation in Th0 but not Th1 cells. Although the anergic and suppressive states of Th0 cells were stable in the presence of exogenous interleukin-2, this was not the case for Th1 cells. No evidence for linked epitope suppression was observed for any of the I-Ab reactive cells investigated. Neither anergy nor suppression was observed in Th0 cells upon restimulation with anti-CD3 in the presence of syngeneic antigen-presenting cells (APCs). However, anergy but not suppression was observed in co-cultures restimulated with anti-T-cell antigen receptor (TCR) mAbs/syngeneic APCs and suppression could be restored by the addition of I-Ab+ APCs. CONCLUSIONS: Overall, these data suggested that the MHC-peptide complex recognized by the Th0 cells was required for suppression of the response of immunocompetent cells. We propose that suppression is mediated either by down-modulation of the MHC-peptide complex recognized by the anergic T cells or that a molecule specific to the MHC-peptide/TCR interaction facilitates negative regulation by APC:T or T:T interactions.


Asunto(s)
Linfocitos T CD4-Positivos/fisiología , Anergia Clonal/fisiología , Tolerancia Inmunológica/fisiología , Complejo Mayor de Histocompatibilidad/fisiología , Animales , Anticuerpos Monoclonales/farmacología , Complejo CD3/inmunología , Movimiento Celular/efectos de los fármacos , Anergia Clonal/efectos de los fármacos , Antígenos de Histocompatibilidad Clase II/fisiología , Interleucina-2/farmacología , Ratones , Ratones Endogámicos C57BL , Ratones Endogámicos CBA , Péptidos/fisiología , Receptores de Antígenos de Linfocitos T/fisiología , Células TH1/efectos de los fármacos , Células TH1/fisiología
16.
Dev Comp Immunol ; 19(6): 497-505, 1995.
Artículo en Inglés | MEDLINE | ID: mdl-8773199

RESUMEN

Nonspecific cytotoxic cell (NCC) activity was assessed in the peripheral blood of four isogenic lines of rainbow trout (Oncorhynchus mykiss) which were derived by the chromosome set manipulation technique of androgenesis. In these fish, whose isogenicity was previously confirmed by multilocus DNA fingerprint analysis, NCC activity was studied by the release of 51Cr from YAC-1 targets. Two groups of trout (the homozygous Arlee 12 line and the heterozygous hybrid of the Arlee 63 and Arlee 12 lines) had significantly lower levels of NCC activity in peripheral blood than either outbred rainbow trout or other lines with Hot Creek or hybrid Arlee x Hot Creek ancestry. The low NCC activity in the Arlee line appears to be inherited as a recessive trait. Peripheral blood cells of the trout mediated lectin dependent cellular cytotoxicity (LDCC) with the addition of phytohemagglutinin to co-cultures of effector cells and YAC-1 cells. The low NCC activity in the peripheral blood of these fish is not due to a condition analogous to the NCC-deficient Chediak-Higashi syndrome of man or the beige mutation of mice.


Asunto(s)
Citotoxicidad Inmunológica/genética , Oncorhynchus mykiss/inmunología , Animales , Línea Celular , Pruebas Inmunológicas de Citotoxicidad , Femenino , Inmunidad Celular/genética , Células Asesinas Naturales/inmunología , Lectinas/farmacología , Leucocitos/inmunología , Masculino , Oncorhynchus mykiss/sangre , Oncorhynchus mykiss/genética , Especificidad de la Especie
17.
Am J Med Genet ; 103(2): 99-105, 2001 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-11568914

RESUMEN

We have identified 25 cases with what we are calling the partial urorectal septum malformation (URSM) sequence, which were seen in our institution over the past 27 years. The partial URSM sequence is defined as a single perineal/anal opening that drains a common cloaca in combination with an absent (imperforate) anus. In the 25 patients reported here, the partial URSM sequence was more common in females, with a female to male ratio of 18 to 7. Ambiguous genitalia were common in both sexes. Internal pelvic structures typically showed a cloaca with the bladder and rectum (and vagina in females) coalescing into a common canal that connected to the external surface in the perineal or anal area. Abnormalities of the internal genitalia were also common, with 12 females having a bifid or septate vagina and 11 having a bicornuate uterus. Renal anomalies were frequent in both sexes, with 10 of 25 patients having unilateral cystic renal dysplasia and 7 of 25 patients having unilateral renal agenesis. Twenty-one of 25 patients survived long term. By definition, the partial URSM sequence is a milder expression of the full URSM sequence, which is defined as having no perineal or anal openings and is typically associated with an internal cloaca. The URSM spectrum, which encompasses the partial and full URSM sequences, is believed to be caused by abnormalities of septation of the primitive cloaca. The URSM spectrum is distinct from the VATER association and conditions caused by sex hormone abnormalities, such as congenital adrenal hyperplasia.


Asunto(s)
Anomalías Múltiples/patología , Cloaca/anomalías , Genitales/anomalías , Recto/anomalías , Anomalías Urogenitales , Anomalías Múltiples/genética , Anomalías Múltiples/mortalidad , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Tasa de Supervivencia , Útero/anomalías , Vagina/anomalías
18.
Am J Med Genet ; 94(5): 405-8, 2000 Oct 23.
Artículo en Inglés | MEDLINE | ID: mdl-11050627

RESUMEN

Gomez-Lopez-Hernandez syndrome (cerebello-trigeminal-dermal dysplasia) is a condition that includes abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). Seven patients with this condition have been documented since 1979. We now report a male with Gomez-Lopez-Hernandez syndrome who, at the age of 19 years, is the oldest patient identified to date. He has been followed since birth, allowing us to report on the progression of his physical findings and psychiatric problems including hyperactivity, depression, self-injurious behavior and bipolar disorder. In addition, he has short stature and growth hormone deficiency.


Asunto(s)
Anomalías Múltiples/patología , Alopecia/patología , Cerebelo/anomalías , Rombencéfalo/anomalías , Adolescente , Niño , Preescolar , Estudios de Seguimiento , Trastornos del Crecimiento/patología , Hormona de Crecimiento Humana/deficiencia , Humanos , Lactante , Masculino , Síndrome
19.
Am J Med Genet ; 55(4): 462-5, 1995 Feb 13.
Artículo en Inglés | MEDLINE | ID: mdl-7762587

RESUMEN

A chromosomal translocation between chromosomes 4 and 8 resulting in Wolf-Hirschhorn syndrome in 2 individuals has been traced through 4 generations of a family. Ascertainment of the family was through a newborn infant with evident Wolf-Hirschhorn syndrome who had an unbalanced chromosomal translocation [46,XY,-4,+der(4),t(4;8) (p15.32;p22)]. Discussion with the family documented a paternal great-uncle who also had a similar phenotype and profound mental retardation. Subsequently this individual was found to have the same unbalanced chromosome constitution as the propositus. The 39-year-old great-uncle is the oldest reported individual with the Wolf-Hirschhorn syndrome. The importance of chromosome evaluation of older individuals with mental retardation syndromes is emphasized.


Asunto(s)
Anomalías Múltiples/genética , Cromosomas Humanos Par 4 , Cromosomas Humanos Par 8 , Translocación Genética , Adulto , Deleción Cromosómica , Cara/anomalías , Femenino , Humanos , Lactante , Recién Nacido , Discapacidad Intelectual/genética , Cariotipificación , Masculino , Linaje , Fenotipo , Síndrome
20.
Am J Med Genet ; 87(1): 61-4, 1999 Nov 05.
Artículo en Inglés | MEDLINE | ID: mdl-10528249

RESUMEN

The 3C syndrome (cranio-cerebello-cardiac dysplasia or the Ritscher-Schinzel syndrome) is a recently delineated condition involving abnormalities of the cranium (large head with prominent forehead), cerebellum (Dandy-Walker cyst and vermis hypoplasia), and cardiac (primarily septal) defects. At least 20 individuals with this condition have been reported in the past 11 years. We report on a girl with the 3C syndrome who at 13 years of age is the oldest patient reported to date. She has been followed since birth, allowing us to show the evolution of her phenotype over time. In addition, she has documented growth hormone deficiency. We suggest that growth hormone deficiency should be considered as a possible cause of the short stature often seen in this condition.


Asunto(s)
Cerebelo/anomalías , Anomalías Craneofaciales/patología , Cardiopatías Congénitas/patología , Anomalías Múltiples/genética , Anomalías Múltiples/patología , Adolescente , Adulto , Niño , Preescolar , Anomalías Craneofaciales/genética , Síndrome de Dandy-Walker/genética , Síndrome de Dandy-Walker/patología , Femenino , Estudios de Seguimiento , Trastornos del Crecimiento/tratamiento farmacológico , Hormona del Crecimiento/deficiencia , Hormona del Crecimiento/uso terapéutico , Cardiopatías Congénitas/genética , Humanos , Lactante , Fenotipo , Síndrome
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