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1.
Zootaxa ; 4963(3): zootaxa.4963.3.9, 2021 Apr 20.
Artículo en Inglés | MEDLINE | ID: mdl-33903546

RESUMEN

This contribution details the morphology, distribution, and song characteristics of a new grass cicada species within the genus Mugadina Moulds, 2012, previously represented by only two much smaller species. The new species is M. superba sp. n. It occurs widely in central Queensland, occurring in a broad curved zone between the western desert areas and the eastern coast. Details of the morphology and the ticking calling songs presented are given, and detailed comparisons are made of morphology and songs between M. superba sp. n. and M. marshalli (Distant, 1911).


Asunto(s)
Hemípteros , Animales , Hemípteros/anatomía & histología , Hemípteros/clasificación , Queensland , Especificidad de la Especie , Vocalización Animal
2.
Sci Rep ; 8(1): 16233, 2018 11 02.
Artículo en Inglés | MEDLINE | ID: mdl-30389955

RESUMEN

To determine if ivacaftor (Kalydeco) influences non-CF human CFTR function in vivo, we measured CFTR-dependent (C-sweat) and CFTR-independent (M-sweat) rates from multiple identified sweat glands in 8 non-CF adults. The two types of sweating were stimulated sequentially with intradermal injections of appropriate reagents; each gland served as its own control via alternating off-on drug tests on both arms, given at weekly intervals with 3 off and 3 on tests per subject. We compared drug effects on C-sweating stimulated by either high or low concentrations of ß-adrenergic cocktail, and on methacholine-stimulated M-sweating. For each subject we measured ~700 sweat volumes from ~75 glands per arm (maximum 12 readings per gland), and sweat volumes were log-transformed for statistical analysis. T-tests derived from linear mixed models (LMMs) were more conservative than the familiar paired sample t-tests, and show that ivacaftor significantly increased C-sweating stimulated by both levels of agonist, with a larger effect in the low cocktail condition; ivacaftor did not increase M-sweat. Concurrent sweat chloride tests detected no effect of ivacaftor. We conclude that ivacaftor in vivo increases the open channel probability (PO) of WT CFTR, provided it is not already maximally stimulated.


Asunto(s)
Aminofenoles/administración & dosificación , Agonistas de los Canales de Cloruro/administración & dosificación , Regulador de Conductancia de Transmembrana de Fibrosis Quística/metabolismo , Quinolonas/administración & dosificación , Glándulas Sudoríparas/efectos de los fármacos , Sudoración/efectos de los fármacos , Adulto , Cloruros/análisis , Regulador de Conductancia de Transmembrana de Fibrosis Quística/agonistas , Relación Dosis-Respuesta a Droga , Femenino , Humanos , Masculino , Sudor/química , Glándulas Sudoríparas/metabolismo
3.
Zootaxa ; 4413(1): 1-56, 2018 Apr 20.
Artículo en Inglés | MEDLINE | ID: mdl-29690120

RESUMEN

Moulds (2012) established the genus Mugadina for two small cicadas, M. marshalli (Distant) and M. emma (Goding and Froggatt), both grass inhabiting species known from Queensland and New South Wales. Both species are notable for their relatively simple 'ticking' songs. Moulds further noted that there were at least two superficially similar genera of cicadas, but each with different genitalia. This paper describes two new genera of small (9-15 mm body lengths) and distinctive grass cicadas with genitalia that are very similar to those of Mugadina, but possess clear morphological, colour and calling song differences. The new genera are: Heremusina n. gen. with two known species namely H. udeoecetes n. sp. and H. pipatio n. sp.; the second new genus is Xeropsalta n. gen., containing four known species, X. thomsoni n. sp., X. aridula n. sp., X. rattrayi n. sp., and X. festiva n. comb. Heremusina n. gen. species are described from the Alice Springs area of Northern Territory and the Cloncurry area of northwest Queensland, from arid to semi arid habitats. The Xeropsalta n. gen. species are described from western, southwest and central Queensland, and from the Simpson and Strzelecki Deserts in northeastern South Australia and northwestern New South Wales, respectively, all locations in very arid to arid habitats, but close to seasonal (often irregular) rivers and lakes. X. festiva n. comb. occurs in semi arid habitats in southern and southeastern Australia.        Detailed taxonomic descriptions are provided of the new species, together with distributions, habitats, and the calling songs. The Heremusina species emit songs with short repetitive buzzing echemes, the echeme durations differing between each species. The Xeropsalta songs are notable for their complexity, containing multiple elements with rapid changes of amplitudes and temporal structures, rather atypical of the songs of most small grass dwelling cicadas. Detailed song structures distinguishing each of the species are illustrated and interpreted in each case in light of their respective taxonomic status.


Asunto(s)
Hemípteros , Distribución Animal , Animales , Australia , Nueva Gales del Sur , Northern Territory , Poaceae , Queensland , Australia del Sur
4.
Artículo en Inglés | MEDLINE | ID: mdl-29440521

RESUMEN

Creole languages are formed in conditions where speakers from distinct languages are brought together without a shared first language, typically under the domination of speakers from one of the languages and particularly in the context of the transatlantic slave trade and European colonialism. One such Creole in Suriname, Sranan, developed around the mid-seventeenth century, primarily out of contact between varieties of English from England, spoken by the dominant group, and multiple West African languages. The vast majority of the basic words in Sranan come from the language of the dominant group, English. Here, we compare linguistic features of modern-day Sranan with those of English as spoken in 313 localities across England. By way of testing proposed hypotheses for the origin of English words in Sranan, we find that 80% of the studied features of Sranan can be explained by similarity to regional dialect features at two distinct input locations within England, a cluster of locations near the port of Bristol and another cluster near Essex in eastern England. Our new hypothesis is supported by the geographical distribution of specific regional dialect features, such as post-vocalic rhoticity and word-initial 'h', and by phylogenetic analysis of these features, which shows evidence favouring input from at least two English dialects in the formation of Sranan. In addition to explicating the dialect features most prominent in the linguistic evolution of Sranan, our historical analyses also provide supporting evidence for two distinct hypotheses about the likely geographical origins of the English speakers whose language was an input to Sranan. The emergence as a likely input to Sranan of the speech forms of a cluster near Bristol is consistent with historical records, indicating that most of the indentured servants going to the Americas between 1654 and 1666 were from Bristol and nearby counties, and that of the cluster near Essex is consistent with documents showing that many of the governors and important planters came from the southeast of England (including London) (Smith 1987 The Genesis of the Creole Languages of Surinam; Smith 2009 In The handbook of pidgin and creole studies, pp. 98-129).This article is part of the theme issue 'Bridging cultural gaps: interdisciplinary studies in human cultural evolution'.


Asunto(s)
Evolución Cultural , Lenguaje , Lingüística , Inglaterra , Humanos , Filogenia , Suriname
5.
Zootaxa ; 4228(1): zootaxa.4228.1.1, 2017 Feb 07.
Artículo en Inglés | MEDLINE | ID: mdl-28187561

RESUMEN

Five new species of small grass cicadas belonging to the genus Graminitigrina Ewart and Marques are described, together with detailed analyses of their calling songs. Four species occur in Queensland, G. aurora n. sp. from eastern central Queensland near Fairbairn Dam; G. flindensis n. sp. from central Queensland between Hughenden northwards for at least 108 km; G. einasleighi n. sp. from near The Lynd, Einasleigh River, northeastern Queensland; G. selwynensis n. sp. from the Selwyn Range, northwestern Queensland, at locations about 40 km east of Mount Isa and 25 km southwest of Cloncurry, this latter here transferred from G. bowensis Ewart and Marques; G. uluruensis n. sp. from Uluru and the Olgas in southwestern Northern Territory, extending northwards through Tennant Creek and apparently further north to near Larrimah, a linear distance of approximately 1190 km. These new species bring the known Graminitigrina species to ten, all superficially similar in colour and morphology. A key to male specimens is provided for the 10 species. Additional distribution records and additional aural song recordings are presented for G. bowensis, these requiring the transfer of populations previously identified as G. bowensis from Croydon and Georgetown, northern Gulf region, to G. karumbae Ewart and Marques. Detailed comparative analyses, including NMDS analyses, of the songs of all 10 species are provided, which show that the song parameters are appropriate to distinguish the species, although some partial overlap is noted in the waveform plots between the songs of G. uluruensis n. sp. and G. flindensis n. sp. Regional variations of song parameters are noted in the calling songs of most of the species described.


Asunto(s)
Hemípteros , Distribución Animal , Animales , Masculino , Northern Territory , Queensland
6.
J Psychiatry Neurosci ; 42(3): 164-171, 2017 05.
Artículo en Inglés | MEDLINE | ID: mdl-27749245

RESUMEN

BACKGROUND: Growing evidence indicates that major depressive disorder (MDD) is characterized by accelerated biological aging, including greater age-related changes in physiological functioning. The disorder is also associated with abnormal neural reward circuitry, particularly in the basal ganglia (BG). Here we assessed age-related changes in BG volume in both patients with MDD and healthy control participants. METHODS: We obtained whole-brain T1-weighted images from patients with MDD and healthy controls. We estimated grey matter volumes of the BG, including the nucleus accumbens, caudate, pallidum and putamen. Volumes were assessed using multivariate analysis of covariance (MANCOVA) with age as a covariate, followed by appropriate post hoc tests. RESULTS: We included 232 individuals (116 patients with MDD) in our analysis. The MANCOVA yielded a significant group × age interaction (p = 0.043). Analyses for each region yielded a significant group × age interaction in the putamen (univariate test, p = 0.005; permutation test, p = 0.004); this effect was not significant in the other regions. The negative association between age and putamen volume was twice as large in the MDD than in the control group (-35.2 v. -16.7 mm3/yr), indicating greater age-related volumetric decreases in the putamen in individuals with MDD than in controls. LIMITATIONS: These findings are cross-sectional; future studies should assess the longitudinal impact of accelerated aging on anhedonia and neural indices of reward processing. CONCLUSION: Our results indicate that putamen aging is accelerated in patients with MDD. Thus, the putamen may uniquely contribute to the adverse long-term effects of depressive psychopathology and may be a useful target for the treatment of MDD across the lifespan.


Asunto(s)
Trastorno Depresivo Mayor/diagnóstico por imagen , Putamen/diagnóstico por imagen , Adolescente , Adulto , Envejecimiento/patología , Antidepresivos/uso terapéutico , Ansiedad/complicaciones , Ansiedad/diagnóstico por imagen , Comorbilidad , Estudios Transversales , Trastorno Depresivo Mayor/complicaciones , Trastorno Depresivo Mayor/tratamiento farmacológico , Femenino , Sustancia Gris/diagnóstico por imagen , Humanos , Imagenología Tridimensional , Modelos Lineales , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Análisis Multivariante , Tamaño de los Órganos , Adulto Joven
7.
Zootaxa ; 4001: 1-65, 2015 Aug 20.
Artículo en Inglés | MEDLINE | ID: mdl-26623751

RESUMEN

In 2012, Moulds established the morphologically similar cicada genera Simona and Chelapsalta, each with one Australian species (sancta Distant and puer Walker, respectively). In this paper, two new species are described within the genus Simona Moulds 2012, S. erema sp. nov. and S. retracta sp. nov., and one within the genus Chelapsalta Moulds 2012, C. myoporae sp. nov. The type species of Simona (female holotype), S. sancta (Distant, 1913), is redescribed based on a contemporary male, nominated a plesiotype, held in the Australian National Insect Collection. Melampsalta subgulosa Ashton 1914 is supported as a junior synonym of S. sancta. The species within the two genera of Simona and Chelapsalta are morphologically very similar. S. erema occurs widely through the arid regions of inland Australia, extending west from western Queensland through the Northern Territory, to central-western Western Australia, a linear distance of approximately 2200 km. S. retracta is known from a single semi-arid locality in southern inland Queensland. C. myoporae occurs widely through southeast, central and southwest Queensland, extending southwards into inland and western N.S.W. and southeastern South Australia. It tends to occur most commonly within vegetation associated with seasonal riverine floodplains, and in some areas of poorly drained and clay-rich soils. The calling songs of these three species, together with those of S. sancta and C. puer, are described. Detailed comparisons made of the songs of S. erema and C. myoporae, each from three widely separated locations, clearly exhibit structural consistency in their calling songs across their distributions. The Simona songs are complex and contain multiple elements; the species are very mobile and wary, and inhabit low dense shrubland. The songs of the two Chelapsalta species, both relatively sedentary in behaviour, in contrast consist of relatively uniform chirping and buzzing elements. It is suggested that, although the two genera are morphologically similar, the calling songs, behaviour and habitats do distinguish them, at least as represented by these species documented. MaxEnt modeling of the species climatic envelope for the widely distributed species Simona erema suggests an association with summer-peak rainfall and diurnal temperature range. Modeling under estimated conditions of the Last Glacial Maximum (22 ky) suggests the possibility of an even more widespread distribution at that time.


Asunto(s)
Hemípteros/clasificación , Hemípteros/fisiología , Comunicación Animal , Distribución Animal , Estructuras Animales/anatomía & histología , Estructuras Animales/crecimiento & desarrollo , Animales , Conducta Animal , Tamaño Corporal , Ecosistema , Femenino , Hemípteros/anatomía & histología , Hemípteros/crecimiento & desarrollo , Masculino , Tamaño de los Órganos
8.
PLoS One ; 9(2): e88564, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-24520399

RESUMEN

To determine if oral dosing with the CFTR-potentiator ivacaftor (VX-770, Kalydeco) improves CFTR-dependent sweating in CF subjects carrying G551D or R117H-5T mutations, we optically measured sweat secretion from 32-143 individually identified glands in each of 8 CF subjects; 6 F508del/G551D, one G551D/R117H-5T, and one I507del/R117H-5T. Two subjects were tested only (-) ivacaftor, 3 only (+) ivacaftor and 3 (+/-) ivacaftor (1-5 tests per condition). The total number of gland measurements was 852 (-) ivacaftor and 906 (+) ivacaftor. A healthy control was tested 4 times (51 glands). For each gland we measured both CFTR-independent (M-sweat) and CFTR-dependent (C-sweat); C-sweat was stimulated with a ß-adrenergic cocktail that elevated [cAMP]i while blocking muscarinic receptors. Absent ivacaftor, almost all CF glands produced M-sweat on all tests, but only 1/593 glands produced C-sweat (10 tests, 5 subjects). By contrast, 6/6 subjects (113/342 glands) produced C-sweat in the (+) ivacaftor condition, but with large inter-subject differences; 3-74% of glands responded with C/M sweat ratios 0.04%-2.57% of the average WT ratio of 0.265. Sweat volume losses cause proportionally larger underestimates of CFTR function at lower sweat rates. The losses were reduced by measuring C/M ratios in 12 glands from each subject that had the highest M-sweat rates. Remaining losses were estimated from single channel data and used to correct the C/M ratios, giving estimates of CFTR function (+) ivacaftor  = 1.6%-7.7% of the WT average. These estimates are in accord with single channel data and transcript analysis, and suggest that significant clinical benefit can be produced by low levels of CFTR function.


Asunto(s)
Sustitución de Aminoácidos/genética , Aminofenoles/uso terapéutico , Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Fibrosis Quística/tratamiento farmacológico , Fibrosis Quística/genética , Quinolonas/uso terapéutico , Sudor/metabolismo , Aminofenoles/farmacología , Estudios de Casos y Controles , Femenino , Humanos , Masculino , Quinolonas/farmacología , Sudor/efectos de los fármacos , Glándulas Sudoríparas/efectos de los fármacos , Glándulas Sudoríparas/metabolismo , Glándulas Sudoríparas/patología
9.
Emotion ; 14(1): 187-92, 2014 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-24188062

RESUMEN

When given a choice, how do people decide which physician to select? Although significant research has demonstrated that how people actually feel (their "actual affect") influences their health care preferences, how people ideally want to feel (their "ideal affect") may play an even greater role. Specifically, we predicted that people trust physicians whose affective characteristics match their ideal affect, which leads people to prefer those physicians more. Consistent with this prediction, the more participants wanted to feel high arousal positive states on average (ideal HAP; e.g., excited), the more likely they were to select a HAP-focused physician. Similarly, the more people wanted to feel low arousal positive states on average (ideal LAP; e.g., calm), the more likely they were to select a LAP-focused physician. Also as predicted, these links were mediated by perceived physician trustworthiness. Notably, while participants' ideal affect predicted physician preference, actual affect (how much people actually felt HAP and LAP on average) did not. These findings suggest that people base serious decisions on how they want to feel, and highlight the importance of considering ideal affect in models of decision making preferences.


Asunto(s)
Afecto , Toma de Decisiones , Médicos , Nivel de Alerta , Femenino , Humanos , Masculino , Relaciones Médico-Paciente , Adulto Joven
10.
PLoS One ; 8(10): e77114, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-24204751

RESUMEN

To assess CFTR function in vivo, we developed a bioassay that monitors and compares CFTR-dependent and CFTR-independent sweat secretion in parallel for multiple (~50) individual, identified glands in each subject. Sweating was stimulated by intradermally injected agonists and quantified by optically measuring spherical sweat bubbles in an oil-layer that contained dispersed, water soluble dye particles that partitioned into the sweat bubbles, making them highly visible. CFTR-independent secretion (M-sweat) was stimulated with methacholine, which binds to muscarinic receptors and elevates cytosolic calcium. CFTR-dependent secretion (C-sweat) was stimulated with a ß-adrenergic cocktail that elevates cytosolic cAMP while blocking muscarinic receptors. A C-sweat/M-sweat ratio was determined on a gland-by-gland basis to compensate for differences unrelated to CFTR function, such as gland size. The average ratio provides an approximately linear readout of CFTR function: the heterozygote ratio is ~0.5 the control ratio and for CF subjects the ratio is zero. During assay development, we measured C/M ratios in 6 healthy controls, 4 CF heterozygotes, 18 CF subjects and 4 subjects with 'CFTR-related' conditions. The assay discriminated all groups clearly. It also revealed consistent differences in the C/M ratio among subjects within groups. We hypothesize that these differences reflect, at least in part, levels of CFTR expression, which are known to vary widely. When C-sweat rates become very low the C/M ratio also tended to decrease; we hypothesize that this nonlinearity reflects ductal fluid absorption. We also discovered that M-sweating potentiates the subsequent C-sweat response. We then used potentiation as a surrogate for drugs that can increase CFTR-dependent secretion. This bioassay provides an additional method for assessing CFTR function in vivo, and is well suited for within-subject tests of systemic, CFTR-directed therapeutics.


Asunto(s)
Regulador de Conductancia de Transmembrana de Fibrosis Quística/metabolismo , Fibrosis Quística/metabolismo , Glándulas Sudoríparas/metabolismo , Sudor/metabolismo , Agonistas Adrenérgicos beta/administración & dosificación , Adulto , Aminofilina/administración & dosificación , Atropina/administración & dosificación , Fibrosis Quística/genética , Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Relación Dosis-Respuesta a Droga , Femenino , Heterocigoto , Humanos , Inyecciones Intradérmicas , Isoproterenol/administración & dosificación , Masculino , Cloruro de Metacolina/administración & dosificación , Agonistas Muscarínicos , Antagonistas Muscarínicos/administración & dosificación , Mutación , Antagonistas de Receptores Purinérgicos P1/administración & dosificación , Sudor/efectos de los fármacos , Glándulas Sudoríparas/efectos de los fármacos , Factores de Tiempo
11.
Zootaxa ; 3620: 1-42, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-26120695

RESUMEN

Three new species are described in the genus Drymopsalta Ewart, previously known only from D. crepitum Ewart and D. daemeli Distant. The three new species occur in Southern Queensland and Northern Territory. D. wallumi sp. nov. occurs along coastal S.E. Queensland, whereas D. hobsoni sp. nov. is restricted to the Bringalily State Forest, near Inglewood, southern inland Queensland. D. acrotela sp. nov. is found in the Litchfield National Park and other locations near Jabaluka, Cahills Crossing, E. Alligator River and Nourlangie, all across the northern Northern Territory. D. crepitum occurs on the Cape York Peninsular extending into the southern Gulf, while D. daemeli occurs in two localised regions in central coastal N.S.W. Each of the species inhabits heath vegetation, often spilling-over into adjacent tree foliage. The species of Drymopsalta are small and inconspicuous cicadas (< 15 mm body length) with relatively high frequency songs (~15 to 22 kHz). The temporal structures of the normal calling songs follow a similar pattern in each species, consisting of the emission of short chirps (comprising 2-16 ticks). Between the chirps are emitted one (D. wallumi, D. hobsoni, D. acrotela), two (D. daemeli) or 1-9 (D. crepitum) intervening single ticks. The species can be distinguished by the timing and the number of these single ticks relative to the adjacent chirps with the notable exception of D. hobsoni and D. acrotela. The calling songs of these two allopatric species are indistinguishable, an unusual feature in Australian cicadas. Two additional song variants are described, a more unstructured chirping song without intervening single ticks observed in each of the species except D. crepitum, and periodic extended buzzing echemes emitted within the calling songs (excepting the D. wallumi song).


Asunto(s)
Comunicación Animal , Hemípteros/clasificación , Hemípteros/fisiología , Distribución Animal , Animales , Femenino , Hemípteros/anatomía & histología , Masculino , Northern Territory , Queensland , Espectrografía del Sonido
12.
Law Hum Behav ; 30(5): 543-60, 2006 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-17019616

RESUMEN

Participants recruited from one Historically Black University (HBU) and two predominantly White higher-education institutions evaluated and decided simulated voting rights case summaries in which the plaintiff was either a racially-defined (African American) or a nonracially-defined (farmers) minority group. Contrary to social identity and social justice findings of an in-group bias, the present study showed greater support at all institutions for the voting rights of the African Americans than for the rural farmers, and the greatest support for both minority groups was found at the HBU. Perceived evidence strength was a better predictor of decisions than perceived unfairness, and both of these predictor variables completely mediated the effects of institution-type and involvement of a racially-defined group on decisions.


Asunto(s)
Actitud/etnología , Derechos Civiles/legislación & jurisprudencia , Derechos Civiles/estadística & datos numéricos , Toma de Decisiones , Justicia Social , Población Negra/estadística & datos numéricos , Humanos , Población Blanca/estadística & datos numéricos
14.
Postgrad Med J ; 80(941): 180-2, 2004 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-15016944

RESUMEN

Hepatitis C virus (HCV) poses a major public health problem world wide. The introduction of combined therapy (interferon and ribavirin) and the recent development of pegylated interferon have offered the opportunity to alter the natural history of HCV, potentially reducing morbidity and mortality. Until recently, treatment has been confined to larger Australian cities. This paper describes the establishment of a clinic for the treatment of HCV in a regional Australian city. The facilities of the sexual health clinic were utilised. Factors contributing to the success of the clinic include the specialist nurse, a multidisciplinary approach, and the service model of shared care with general practitioners. The patient population and the outcomes of managing HCV in a regional centre are described. The sustained viral response rate is comparable to the published data from specialist centres.


Asunto(s)
Atención a la Salud , Hepatitis C Crónica/terapia , Biopsia , Quimioterapia Combinada , Femenino , Hepatitis C Crónica/psicología , Humanos , Hígado/patología , Masculino , Auditoría Médica , Trastornos Mentales/etiología , Trastornos Mentales/terapia , Enfermeras Practicantes , Grupo de Atención al Paciente , Queensland
15.
Med J Aust ; 169(4): 201-2, 1998 Aug 17.
Artículo en Inglés | MEDLINE | ID: mdl-9734578

RESUMEN

A 39-year-old woman with systemic lupus erythematosus suffered a prolonged neurological illness associated with very low levels of glucose in her cerebrospinal fluid (CSF). Six months later, and after numerous CSF investigations, Histoplasma capsulatum was cultured. To our knowledge, this is the first report of cerebral histoplasmosis in Australia in a patient who is not HIV positive.


Asunto(s)
Histoplasmosis/diagnóstico , Lupus Eritematoso Sistémico/diagnóstico , Meningitis Fúngica/diagnóstico , Infecciones Oportunistas/diagnóstico , Adulto , Anfotericina B/administración & dosificación , Antifúngicos/administración & dosificación , Glucemia/metabolismo , Encéfalo/patología , Quimioterapia Combinada , Femenino , Histoplasmosis/tratamiento farmacológico , Humanos , Itraconazol/administración & dosificación , Imagen por Resonancia Magnética , Meningitis Fúngica/tratamiento farmacológico , Examen Neurológico , Infecciones Oportunistas/tratamiento farmacológico
16.
Cell ; 86(1): 59-69, 1996 Jul 12.
Artículo en Inglés | MEDLINE | ID: mdl-8689688

RESUMEN

To identify genes important for human cognitive development, we studied Williams syndrome (WS), a developmental disorder that includes poor visuospatial constructive cognition. Here we describe two families with a partial WS phenotype; affected members have the specific WS cognitive profile and vascular disease, but lack other WS features. Submicroscopic chromosome 7q11.23 deletions cosegregate with this phenotype in both families. DNA sequence analyses of the region affected by the smallest deletion (83.6 kb) revealed two genes, elastin (ELN) and LIM-kinase1 (LIMK1). The latter encodes a novel protein kinase with LIM domains and is strongly expressed in the brain. Because ELN mutations cause vascular disease but not cognitive abnormalities, these data implicate LIMK1 hemizygosity in imparied visuospatial constructive cognition.


Asunto(s)
Cognición/fisiología , Proteínas de Unión al ADN/genética , Proteínas Serina-Treonina Quinasas/genética , Percepción Visual/genética , Síndrome de Williams/genética , Secuencia de Bases , Northern Blotting , Encéfalo/embriología , Encéfalo/crecimiento & desarrollo , Encéfalo/fisiología , Aberraciones Cromosómicas , Cromosomas Humanos Par 7/genética , Elastina/genética , Eliminación de Gen , Regulación del Desarrollo de la Expresión Génica/fisiología , Humanos , Hibridación Fluorescente in Situ , Quinasas Lim , Datos de Secuencia Molecular , Fenotipo , Proteínas Quinasas/genética , Análisis de Secuencia de ADN , Dedos de Zinc/genética
17.
Am J Hum Genet ; 57(1): 49-53, 1995 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-7611295

RESUMEN

Williams syndrome (WS) is generally characterized by mental deficiency, gregarious personality, dysmorphic facies, supravalvular aortic stenosis, and idiopathic infantile hypercalcemia. Patients with WS show allelic loss of elastin (ELN), exhibiting a submicroscopic deletion, at 7q11.23, detectable by FISH. Hemizygosity is likely the cause of vascular abnormalities in WS patients. A series of 235 patients was studied, and molecular cytogenetic deletions were seen in 96% of patients with classic WS. Patients included 195 solicited through the Williams Syndrome Association (WSA), plus 40 clinical cytogenetics cases referred by primary-care physicians. Photographs and medical records of most WSA subjects were reviewed, and patients were identified as "classic" (n = 114) or "uncertain" (n = 39). An additional 42 WSA patients were evaluated without clinical information. FISH was performed with biotinylated ELN cosmids on metaphase cells from immortalized lymphoblastoid lines from WSA patients and after high-resolution banding analysis on clinical referral patients. An alpha-satellite probe for chromosome 7 was included in hybridizations, as an internal control. Ninety-six percent of the patients with classic WS showed a deletion in one ELN allele; four of these did not show a deletion. Of the uncertain WS patients, only 3 of 39 showed a deletion. Of the 42 who were not classified phenotypically, because of lack of clinical information, 25 patients (60%) showed a deletion. Thirty-eight percent (15/40) of clinical cytogenetics cases showed an ELN deletion and no cytogenetic deletion by banded analysis. These results support the usefulness of FISH for the detection of elastin deletions as an initial diagnostic assay for WS.


Asunto(s)
Anomalías Múltiples/genética , Cromosomas Humanos Par 7/genética , Elastina/genética , Eliminación de Gen , Anomalías Múltiples/diagnóstico , Preescolar , Sondas de ADN , Cara/anomalías , Femenino , Trastornos del Crecimiento/genética , Cardiopatías Congénitas/genética , Humanos , Hibridación Fluorescente in Situ , Lactante , Masculino , Fenotipo , Síndrome
18.
J Clin Invest ; 93(3): 1071-7, 1994 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-8132745

RESUMEN

Supravalvular aortic stenosis (SVAS) is an inherited vascular disease that can cause heart failure and death. SVAS can be inherited as an autosomal dominant trait or as part of a developmental disorder, Williams syndrome (WS). In recent studies we presented evidence suggesting that a translocation disrupting the elastin gene caused SVAS in one family while deletions involving the entire elastin locus caused WS. In this study, pulsed-field, PCR, and Southern analyses showed that a 100-kb deletion of the 3' end of the elastin gene cosegregated with the disease in another SVAS family. DNA sequence analysis localized the breakpoint between elastin exons 27 and 28, the same region disrupted by the SVAS-associated translocation. These data indicate that mutations in the elastin gene cause SVAS and suggest that elastin exons 28-36 may encode critical domains for vascular development.


Asunto(s)
Estenosis Aórtica Subvalvular/genética , Elastina/genética , Eliminación de Gen , Secuencia de Bases , Electroforesis en Gel de Campo Pulsado , Femenino , Humanos , Masculino , Datos de Secuencia Molecular , Mutación
19.
Nat Genet ; 5(1): 11-6, 1993 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-7693128

RESUMEN

Williams syndrome (WS) is a developmental disorder affecting connective tissue and the central nervous system. A common feature of WS, supravalvular aortic stenosis, is also a distinct autosomal dominant disorder caused by mutations in the elastin gene. In this study, we identified hemizygosity at the elastin locus using genetic analyses in four familial and five sporadic cases of WS. Fluorescent in situ hybridization and quantitative Southern analyses confirmed these findings, demonstrating inherited and de novo deletions of the elastin gene. These data indicate that deletions involving one elastin allele cause WS and implicate elastin hemizygosity in the pathogenesis of the disease.


Asunto(s)
Enfermedades del Tejido Conjuntivo/genética , Discapacidades del Desarrollo/genética , Elastina/genética , Adulto , Alelos , Estenosis de la Válvula Aórtica/genética , Arterias/anomalías , Southern Blotting , Niño , Preescolar , Cromosomas Humanos Par 7 , Genes , Genotipo , Humanos , Hibridación Fluorescente in Situ , Discapacidad Intelectual/genética , Linaje , Eliminación de Secuencia , Síndrome
20.
Cell ; 73(1): 159-68, 1993 Apr 09.
Artículo en Inglés | MEDLINE | ID: mdl-8096434

RESUMEN

To identify genes involved in vascular disease, we investigated patients with supravalvular aortic stenosis (SVAS), an inherited vascular disorder that causes hemodynamically significant narrowing of large elastic arteries. Pulsed-field gel and Southern analyses showed that a translocation near the elastin gene cosegregated with SVAS in one family. DNA sequence analyses demonstrated that the translocation disrupted the elastin gene and localized the breakpoint to exon 28. Taken together with our previous study linking SVAS to the elastin gene in two additional families and existing knowledge of vascular biology, these data suggest that mutations in the elastin gene can cause SVAS.


Asunto(s)
Estenosis de la Válvula Aórtica/genética , Elastina/genética , Secuencia de Aminoácidos , Secuencia de Bases , Mapeo Cromosómico , Cromosomas Humanos Par 6 , Cromosomas Humanos Par 7 , Femenino , Ligamiento Genético , Humanos , Células Híbridas , Masculino , Datos de Secuencia Molecular , Linaje , Polimorfismo de Longitud del Fragmento de Restricción , Síndrome , Translocación Genética
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