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1.
Water Sci Technol ; 84(10-11): 3246-3256, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34850725

RESUMO

Water features prominently in discussions on sustainability. The recent Cape Town 'Day Zero' drought heightened fears about global cities running dry as the climate changes. During that crisis a campaign was launched to save water at schools, consisting of a basic maintenance campaign and a behavioural campaign. The former was limited to easy fixes, and the latter comprised an information campaign and an information and competition campaign. The impacts of these were assessed immediately after the interventions. This paper revisits the maintenance results by assessing the difference in responses according to affluence levels of the schools, and by evaluating the impacts one year after the campaigns. We find that the poorer schools were not able to sustain the maintenance gains, especially at the primary schools.


Assuntos
Instituições Acadêmicas , Insegurança Hídrica , Cidades , Pobreza , África do Sul
2.
Proc Natl Acad Sci U S A ; 113(51): 14645-14650, 2016 12 20.
Artigo em Inglês | MEDLINE | ID: mdl-27930313

RESUMO

The existence of charge-density-wave (CDW) correlations in cuprate superconductors has now been established. However, the nature of the CDW ground state has remained uncertain because disorder and the presence of superconductivity typically limit the CDW correlation lengths to only a dozen unit cells or less. Here we explore the field-induced 3D CDW correlations in extremely pure detwinned crystals of YBa2Cu3O2 (YBCO) ortho-II and ortho-VIII at magnetic fields in excess of the resistive upper critical field ([Formula: see text]) where superconductivity is heavily suppressed. We observe that the 3D CDW is unidirectional and possesses a long in-plane correlation length as well as significant correlations between neighboring CuO2 planes. It is significant that we observe only a single sharply defined transition at a critical field proportional to [Formula: see text], given that the field range used in this investigation overlaps with other high-field experiments including quantum oscillation measurements. The correlation volume is at least two to three orders of magnitude larger than that of the zero-field CDW. This is by far the largest CDW correlation volume observed in any cuprate crystal and so is presumably representative of the high-field ground state of an "ideal" disorder-free cuprate.

3.
Philos Trans A Math Phys Eng Sci ; 376(2116)2018 Mar 28.
Artigo em Inglês | MEDLINE | ID: mdl-29459413

RESUMO

The efficient production of cold antihydrogen atoms in particle traps at CERN's Antiproton Decelerator has opened up the possibility of performing direct measurements of the Earth's gravitational acceleration on purely antimatter bodies. The goal of the AEgIS collaboration is to measure the value of g for antimatter using a pulsed source of cold antihydrogen and a Moiré deflectometer/Talbot-Lau interferometer. The same antihydrogen beam is also very well suited to measuring precisely the ground-state hyperfine splitting of the anti-atom. The antihydrogen formation mechanism chosen by AEgIS is resonant charge exchange between cold antiprotons and Rydberg positronium. A series of technical developments regarding positrons and positronium (Ps formation in a dedicated room-temperature target, spectroscopy of the n=1-3 and n=3-15 transitions in Ps, Ps formation in a target at 10 K inside the 1 T magnetic field of the experiment) as well as antiprotons (high-efficiency trapping of [Formula: see text], radial compression to sub-millimetre radii of mixed [Formula: see text] plasmas in 1 T field, high-efficiency transfer of [Formula: see text] to the antihydrogen production trap using an in-flight launch and recapture procedure) were successfully implemented. Two further critical steps that are germane mainly to charge exchange formation of antihydrogen-cooling of antiprotons and formation of a beam of antihydrogen-are being addressed in parallel. The coming of ELENA will allow, in the very near future, the number of trappable antiprotons to be increased by more than a factor of 50. For the antihydrogen production scheme chosen by AEgIS, this will be reflected in a corresponding increase of produced antihydrogen atoms, leading to a significant reduction of measurement times and providing a path towards high-precision measurements.This article is part of the Theo Murphy meeting issue 'Antiproton physics in the ELENA era'.

4.
Am J Transplant ; 15(2): 560-4, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25611999

RESUMO

In solid organ transplant recipients, immune reconstitution inflammatory syndrome (IRIS) is a rare complication of cryptococcosis, which may require steroids in its most severe forms. Here, we report the case of a renal transplant recipient who developed severe cryptococcal meningitis-associated IRIS 1 week after immunosuppression reduction. High-dose steroids failed to improve the disease. Finally, a recombinant human monoclonal tumor necrosis factor-α (TNF-α) antagonist, adalimumab, was prescribed, and the patient rapidly experienced dramatic neurological improvement. No IRIS relapse occurred within 14 months following adalimumab discontinuation.


Assuntos
Anticorpos Monoclonais Humanizados/uso terapêutico , Criptococose/complicações , Síndrome Inflamatória da Reconstituição Imune/tratamento farmacológico , Síndrome Inflamatória da Reconstituição Imune/etiologia , Transplante de Rim , Índice de Gravidade de Doença , Transplantados , Adalimumab , Adulto , Anti-Inflamatórios/uso terapêutico , Encéfalo/patologia , Feminino , Humanos , Imunossupressores , Imageamento por Ressonância Magnética , Meningite Criptocócica/tratamento farmacológico , Meningite Criptocócica/etiologia , Meningite Criptocócica/patologia , Resultado do Tratamento , Fator de Necrose Tumoral alfa/antagonistas & inibidores
5.
Ann Oncol ; 26(1): 89-94, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25355723

RESUMO

BACKGROUND: To improve the therapeutic index of whole-brain radiation therapy (WBRT) in the treatment of brain metastases (BM) from breast cancer, we investigated the efficacy and safety of WBRT combined with temozolomide (TMZ) in this population. PATIENTS AND METHODS: This phase II multicenter prospective randomized study included patients with newly diagnosed intraparenchymal BMs from breast cancer, unsuitable for surgery or radiosurgery. All patients received conformal WBRT (3 Gy × 10-30 Gy), with or without concomitant TMZ administered at a dosage of 75 mg/m(2)/day during the irradiation period. The primary end point was objective response rate (ORR) 6 weeks after the end of treatment, defined as a partial or complete response on systematic brain MRI (modified WHO criteria). Secondary end points were progression-free survival (PFS) and overall survival (OS), neurologic symptoms, and tolerability. RESULTS: Between February 2008 and November 2010, 100 patients were enrolled in the study (50 in the WBRT + TMZ arm, 50 in the WBRT arm). Median age was 55 years (29-79). Median follow-up was 9.4 months [1.0-68.1]. ORRs at 6 weeks were 36% in the WBRT arm and 30% in the WBRT + TMZ arm (NS). In the WBRT arm, median PFS was 7.4 months and median OS was 11.1 months. In the WBRT + TMZ arm, median PFS was 6.9 months and median OS was 9.4 months. Treatment was well tolerated in this arm: the most common ≥grade 2 acute toxicity was reversible lymphopenia. CONCLUSION: WBRT combined with TMZ did not significantly improve local control and survival in patients with BMs from breast cancer. CLINICALTRIALS.GOV: NCT00875355.


Assuntos
Antineoplásicos Alquilantes/uso terapêutico , Neoplasias Encefálicas/radioterapia , Neoplasias da Mama/patologia , Dacarbazina/análogos & derivados , Adulto , Idoso , Neoplasias Encefálicas/secundário , Terapia Combinada , Irradiação Craniana , Dacarbazina/uso terapêutico , Intervalo Livre de Doença , Feminino , Humanos , Pessoa de Meia-Idade , Estudos Prospectivos , Temozolomida
6.
J Eur Acad Dermatol Venereol ; 29(12): 2451-7, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26403508

RESUMO

BACKGROUND: Lung transplant recipients (LTR) are at increased risk for squamous cell carcinoma of the skin (SCC), but risk factors (RF) are incompletely understood. OBJECTIVE: To assess associations between exposure to certain medications and viral infections, and subsequent SCC development. METHODS: Retrospective study examining incidence and potential RF for SCC in LTR transplanted from 1992 to 2010 followed up at one centre. Cumulative incidence and Cox proportional hazards regression models were used to evaluate RF in the first year post-transplant for SCC formation during the follow-up. RESULTS: In 205 analysed LTR, 46 patients were diagnosed with SCC during a median follow-up of 4.9 years. The cumulative incidences of first SCC were 16.7% and 34.1%, for 5 and 10 years post-transplantation respectively. Multivariable analysis identified CMV replication (HR 7.69, 95% CI 2.93-20.2, P < 0.001) and moxifloxacin exposure (HR 2.35, 95% CI 1.15-4.81, P = 0.020) during the first year post-transplantation as independent RF for SCC development during follow-up. CONCLUSION: In our cohort, moxifloxacin use and CMV replication during the first year post-transplantation were associated with increased risk for SCC. These two factors could be indicators of over-immunosuppression. Their role in SCC development requires investigations in larger cohorts and prospective studies.


Assuntos
Antibacterianos/uso terapêutico , Carcinoma de Células Escamosas/epidemiologia , Infecções por Citomegalovirus/epidemiologia , Fluoroquinolonas/uso terapêutico , Transplante de Pulmão , Neoplasias Cutâneas/epidemiologia , Adulto , Carcinoma de Células Escamosas/etiologia , Citomegalovirus/fisiologia , Feminino , Seguimentos , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Moxifloxacina , Estudos Retrospectivos , Fatores de Risco , Neoplasias Cutâneas/etiologia , Replicação Viral
7.
Mol Hum Reprod ; 20(1): 66-76, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24000237

RESUMO

Pregnancy involves progressive relationship changes between conceptus-derived trophoblasts and maternal decidual vessels and leukocytes. Uterine natural killer (uNK) cells, the dominant leukocytes in early human and mouse decidua, have late gestational cardio-protective roles through mid-gestational initiation of decidual spiral arterial modification. The earlier gestational functions of uNK cells are unknown. Comparisons of gestation days (GD) 6.5-9.5 implant sites from allogeneically mated alymphoid or normal BALB/c mice (Rag2(-/-)Il2rg(-/-); NK-T-B- versus +/+) by whole mount immunohistochemistry revealed delays in Rag2(-/-)Il2rg(-/-) uterine lumen closure, trophoblast invasion and conceptus development. Also delayed were onset of mesometrial angiogenesis and pruning of neo-vascular networks in decidua basalis. This phenotype was fully reversed in BALB/c-Rag2(-/-)Il2rg(-/-) pregnancies that followed adoptive Rag2(-/-) (NK+B-T-) marrow transfer. These data suggest that uNK cells coordinate GD-appropriate phases of decidual angiogenesis, which in turn paces progressive changes in early implant sites that support normal fetal growth. Similar roles for human CD56(bright) decidual NK cells could explain the importance of CD56(bright) decidual NK cell activation to pregnancy success.


Assuntos
Decídua/irrigação sanguínea , Implantação do Embrião/imunologia , Células Matadoras Naturais/imunologia , Neovascularização Fisiológica/imunologia , Útero/irrigação sanguínea , Animais , Transplante de Medula Óssea , Antígeno CD56/imunologia , Proteínas de Ligação a DNA/genética , Decídua/citologia , Decídua/embriologia , Implantação do Embrião/fisiologia , Feminino , Proteínas de Fluorescência Verde/genética , Subunidade gama Comum de Receptores de Interleucina/genética , Ativação Linfocitária/imunologia , Camundongos , Camundongos Endogâmicos BALB C , Camundongos Endogâmicos C57BL , Camundongos Knockout , Gravidez , Trofoblastos , Útero/citologia , Útero/imunologia
8.
Nat Genet ; 5(3): 308-11, 1993 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-8275096

RESUMO

Stargardt's disease (fundus flavimaculatus) is one of the most frequent causes of macular degeneration in childhood and accounts for 7% of all retinal dystrophies. It is an autosomal recessive condition characterized by a bilateral loss of central vision occurring at age 7-12 years. Genetic linkage analysis of eight families has assigned the disease locus to chromosome 1p21-p13. Multipoint linkage analysis and haplotype analysis has allowed us to establish the best estimate for location of the gene over the locus D1S435 (maximum lod score of 12.66). Our results are consistent with the genetic homogeneity of this condition.


Assuntos
Cromossomos Humanos Par 1 , Doenças Retinianas/genética , Criança , Mapeamento Cromossômico , Feminino , Genes Recessivos , Ligação Genética , Haplótipos , Humanos , Masculino , Recombinação Genética
9.
Nat Genet ; 14(4): 461-4, 1996 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-8944027

RESUMO

Leber's congenital amaurosis (LCA, MIM 204,000), the earliest and most severe form of inherited retinopathy, accounts for at least 5% of all inherited retinal dystrophies. This autosomal recessive condition is usually recognized at birth or during the first months of life in an infant with total blindness or greatly impaired vision, normal fundus and extinguished electroretinogram (ERG). Nystagmus (pendular type) and characteristic eye poking are frequently observed in the first months of life (digito-ocular sign of Franceschetti). Hypermetropia and keratoconus frequently develop in the course of the disease. The observation by Waardenburg of normal children born to affected parents supports the genetic heterogeneity of LCA. Until now, however, little was known about the pathophysiology of the disease, but LCA is usually regarded as the consequence of either impaired development of photoreceptors or extremely early degeneration of cells that have developed normally. We have recently mapped a gene for LCA to chromosome 17p13.1 (LCA1) by homozygosity mapping in consanguineous families of North African origin and provided evidence of genetic heterogeneity in our sample, as LCA1 accounted for 8/15 LCA families in our series. Here, we report two missense mutations (F589S) and two frameshift mutations (nt 460 del C, nt 693 del C) of the retinal guanylate cyclase (RETGC, GDB symbol GUC2D) gene in four unrelated LCA1 probands of North African ancestry and ascribe LCA1 to an impaired production of cGMP in the retina, with permanent closure of cGMP-gated cation channels.


Assuntos
Cegueira/congênito , Guanilato Ciclase/genética , Mutação , Atrofias Ópticas Hereditárias/enzimologia , Retina/enzimologia , Cegueira/enzimologia , Cegueira/genética , Cromossomos Humanos Par 17 , GMP Cíclico/metabolismo , Mutação da Fase de Leitura , Homozigoto , Humanos , Dados de Sequência Molecular , Atrofias Ópticas Hereditárias/genética , Células Fotorreceptoras/metabolismo , Mapeamento por Restrição
10.
Phys Rev Lett ; 108(8): 087002, 2012 Feb 24.
Artigo em Inglês | MEDLINE | ID: mdl-22463558

RESUMO

We present small angle neutron scattering studies of the vortex lattice (VL) in CeCoIn5 with magnetic fields applied parallel (H) to the antinodal [100] and nodal [110] directions. For H is parallel to [100], a single VL orientation is observed, while a 90° reorientation transition is found for H is parallel to [110]. For both field orientations and VL configurations we find a distorted hexagonal VL with an anisotropy, Γ=2.0±0.05. The VL form factor shows strong Pauli paramagnetic effects similar to what have previously been reported for H is parallel to [001]. At high fields, above which the upper critical field (H(c2)) becomes a first-order transition, an increased disordering of the VL is observed.

11.
Phys Rev Lett ; 108(17): 177204, 2012 Apr 27.
Artigo em Inglês | MEDLINE | ID: mdl-22680903

RESUMO

We report on muon spin rotation studies of the noncentrosymmetric heavy fermion antiferromagnet CeRhSi3. A drastic and monotonic suppression of the internal fields, at the lowest measured temperature, was observed upon an increase of external pressure. Our data suggest that the ordered moments are gradually quenched with increasing pressure, in a manner different from the pressure dependence of the Néel temperature. At 23.6 kbar, the ordered magnetic moments are fully suppressed via a second-order phase transition, and T(N) is zero. Thus, we directly observed the quantum critical point at 23.6 kbar hidden inside the superconducting phase of CeRhSi3.

12.
J Evol Biol ; 25(10): 2056-2076, 2012 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-22901035

RESUMO

Priapulids and their extinct relatives, the archaeopriapulids and palaeoscolecids, are vermiform, carnivorous ecdysozoans with an armoured, extensible proboscis. These worms were an important component of marine communities during the Palaeozoic, but were especially abundant and diverse in the Cambrian. Today, they comprise just seven genera in four families. Priapulids were among the first groups used to test hypotheses concerning the morphological disparity of Cambrian fossils relative to the extant fauna. A previous study sampled at the generic level, concluding that Cambrian genera embodied marginally less morphological diversity than their extant counterparts. Here, we sample predominantly at the species level and include numerous fossils and some extant forms described in the last fifteen years. Empirical morphospaces for priapulids, archaeopriapulids and palaeoscolecids are relatively insensitive to changes in the taxon or character sample: their overall form has altered little, despite the markedly improved sampling. Cambrian and post-Cambrian genera occupy adjacent rather than broadly overlapping regions of these spaces, and Cambrian species still show lower morphological disparity than their post-Cambrian counterparts. Crucially, the significance of this difference has increased with improved taxon sampling over research time. In contrast with empirical morphospaces, the phylogeny of priapulids, archaeopriapulids and palaeoscolecids derived from morphological characters is extremely sensitive to details of taxon sampling and the manner in which characters are weighted. However, the extant Priapulidae and Halicryptidae invariably resolve as sister families, with this entire clade subsequently being sister group to the Maccabeidae. In our most inclusive trees, the extant Tubiluchidae are separated from these other living taxa by a number of small, intervening fossil clades.


Assuntos
Evolução Biológica , Extinção Biológica , Invertebrados/genética , Animais , Especiação Genética , Variação Genética
13.
Heredity (Edinb) ; 108(3): 322-31, 2012 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-21897442

RESUMO

The study of the dispersal capability of a species can provide essential information for the management and conservation of its genetic variability. Comparison of gene flow rates among populations characterized by different management and evolutionary histories allows one to decipher the role of factors such as isolation and tree density on gene movements. We used two paternity analysis approaches and different strategies to handle the possible presence of genotyping errors to obtain robust estimates of pollen flow in four European beech (Fagus sylvatica L.) populations from Austria and France. In each country one of the two plots is located in an unmanaged forest; the other plots are managed with a shelterwood system and inside a colonization area (in Austria and France, respectively). The two paternity analysis approaches provided almost identical estimates of gene flow. In general, we found high pollen immigration (~75% of pollen from outside), with the exception of the plot from a highly isolated forest remnant (~50%). In the two unmanaged plots, the average within-population pollen dispersal distances (from 80 to 184 m) were higher than previously estimated for beech. From the comparison between the Austrian managed and unmanaged plots, that are only 500 m apart, we found no evidence that either gene flow or reproductive success distributions were significantly altered by forest management. The investigated phenotypic traits (crown area, height, diameter and flowering phenology) were not significantly related with male reproductive success. Shelterwood seems to have an effect on the distribution of within-population pollen dispersal distances. In the managed plot, pollen dispersal distances were shorter, possibly because adult tree density is three-fold (163 versus 57 trees per hectare) with respect to the unmanaged one.


Assuntos
Fagus/genética , Fluxo Gênico , Pólen/genética , Alelos , Áustria , DNA de Plantas , Evolução Molecular , França , Frequência do Gene , Variação Genética , Genética Populacional , Genótipo , Escore Lod , Repetições de Microssatélites , Modelos Genéticos , Reprodução/genética , Sementes/genética
14.
Epidemiol Infect ; 140(4): 621-5, 2012 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21676362

RESUMO

We report an outbreak associated with a dinner cruise on Lake Michigan. This took place on the same day as heavy rainfall, which resulted in 42·4 billion liters of rainwater and storm runoff containing highly diluted sewage being released into the lake. Of 72 cruise participants, 41 (57%) reported gastroenteritis. Stool specimens were positive for Shigella sonnei (n=3), Giardia (n=3), and Cryptosporidium (n=2). Ice consumption was associated with illness (risk ratio 2·2, P=0·011). S. sonnei was isolated from a swab obtained from the one of the boat's ice bins. Environmental inspection revealed conditions and equipment that could have contributed to lake water contaminating the hose used to load potable water onto the boat. Knowledge of water holding and distribution systems on boats, and of potential risks associated with flooding and the release of diluted sewage into large bodies of water, is crucial for public health guidance regarding recreational cruises.


Assuntos
Surtos de Doenças , Gastroenterite/epidemiologia , Lagos/microbiologia , Navios , Abastecimento de Água , Idoso , Chicago/epidemiologia , Criptosporidiose/epidemiologia , Criptosporidiose/etiologia , Cryptosporidium , Disenteria Bacilar/epidemiologia , Disenteria Bacilar/etiologia , Fezes/microbiologia , Fezes/parasitologia , Feminino , Gastroenterite/etiologia , Gastroenterite/microbiologia , Gastroenterite/parasitologia , Giardia , Giardíase/epidemiologia , Giardíase/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Shigella sonnei , Microbiologia da Água
15.
J Neuroradiol ; 39(2): 71-86, 2012 May.
Artigo em Francês | MEDLINE | ID: mdl-22342939

RESUMO

Susceptibility-weighted MR sequences, T2 star weighted angiography (SWAN, General Electric), Susceptibility weighted imaging (SWI, Siemens) and venous blood oxygen level dependant (VenoBOLD, Philips) are 3D spoiled gradient-echo sequence that provide a high sensitivity for the detection of blood degradation products, calcifications, and iron deposits. For all these sequences, an appropriate echo time allows for the visualization of susceptibility differences between adjacent tissues. However, each of these sequences presents a specific technical background. The purpose of this review was to describe 1/the technical aspects of SWAN, VenoBOLD and SWI sequences, 2/the differences observed in term of contrast within the images, 3/the key imaging findings in neuroimaging using susceptibility-weighted MR sequences.


Assuntos
Encefalopatias/diagnóstico , Imageamento Tridimensional/métodos , Imageamento por Ressonância Magnética/métodos , Neuroimagem/métodos , Meios de Contraste , Humanos , Aumento da Imagem/métodos , Angiografia por Ressonância Magnética/métodos
16.
Am J Transplant ; 11(6): 1218-25, 2011 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-21645254

RESUMO

In 2007, a previously uninfected kidney transplant recipient tested positive for human immunodeficiency virus type 1 (HIV) and hepatitis C virus (HCV) infection. Clinical information of the organ donor and the recipients was collected by medical record review. Sera from recipients and donor were tested for serologic and nucleic acid-based markers of HIV and HCV infection, and isolates were compared for genetic relatedness. Routine donor serologic screening for HIV and HCV infection was negative; the donor's only known risk factor for HIV was having sex with another man. Four organs (two kidneys, liver and heart) were transplanted to four recipients. Nucleic acid testing (NAT) of donor sera and posttransplant sera from all recipients were positive for HIV and HCV. HIV nucleotide sequences were indistinguishable between the donor and four recipients, and HCV subgenomic sequences clustered closely together. Two patients subsequently died and the transplanted organs failed in the other two patients. This is the first recognized cotransmission of HIV and HCV from an organ donor to transplant recipients. Routine posttransplant HIV and HCV serological testing and NAT of recipients of organs from donors with suspected risk factors should be considered as routine practice.


Assuntos
Infecções por HIV/transmissão , Hepatite C/transmissão , Transplante de Órgãos/efeitos adversos , Doadores de Tecidos , Ensaio de Imunoadsorção Enzimática , Humanos , Fatores de Risco
17.
J Med Genet ; 47(12): 829-34, 2010 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-20805370

RESUMO

BACKGROUND: Leber congenital amaurosis (LCA) is the earliest and most severe inherited retinal degeneration. Isolated forms of LCA frequently result from mutation of the CEP290 gene which is expressed in various ciliated tissues. METHODS: Seven LCA patients with CEP290 mutations were investigated to study otorhinolaryngologic phenotype and respiratory cilia. Nasal biopsies and brushing were performed to study cilia ultrastructure using transmission electron microscopy and ciliary beating using high-speed videomicroscopy, respectively. CEP290 expression in normal nasal epithelium was studied using real-time RT-PCR. RESULTS: When electron microscopy was feasible (5/7), high levels of respiratory cilia defects were detected. The main defects concerned dynein arms, central complex and/or peripheral microtubules. All patients had a rarefaction of ciliated cells and a variable proportion of short cilia. Frequent but moderate and heterogeneous clinical and ciliary beating abnormalities were found. CEP290 was highly expressed in the neural retina and nasal epithelial cells compared with other tissues. DISCUSSION: These data provide the first clear demonstration of respiratory cilia ultrastructural defects in LCA patients with CEP290 mutations. The frequency of these findings in LCA patients along with the high expression of CEP290 in nasal epithelium suggest that CEP290 has an important role in the proper development of both the respiratory ciliary structures and the connecting cilia of photoreceptors. The presence of respiratory symptoms in patients could represent additional clinical criteria to direct CEP290 genotyping of patients affected with the genetically heterogeneous cone-rod dystrophy subtype of LCA.


Assuntos
Cílios/patologia , Amaurose Congênita de Leber/genética , Amaurose Congênita de Leber/patologia , Mutação/genética , Anormalidades do Sistema Respiratório/genética , Adolescente , Adulto , Antígenos de Neoplasias/genética , Antígenos de Neoplasias/metabolismo , Proteínas de Ciclo Celular , Criança , Cílios/ultraestrutura , Proteínas do Citoesqueleto , Perfilação da Expressão Gênica , Regulação da Expressão Gênica , Humanos , Masculino , Microscopia de Vídeo , Proteínas de Neoplasias/genética , Proteínas de Neoplasias/metabolismo , Fenótipo , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Adulto Jovem
18.
Phys Rev Lett ; 105(15): 153604, 2010 Oct 08.
Artigo em Inglês | MEDLINE | ID: mdl-21230903

RESUMO

In this Letter, we report an absorption spectroscopy experiment and the observation of electromagnetically induced transparency from a single trapped atom. We focus a weak and narrow band Gaussian light beam onto an optically cooled 138Ba+ ion using a high numerical aperture lens. Extinction of this beam is observed with measured values of up to 1.35%. We demonstrate electromagnetically induced transparency of the ion by tuning a strong control beam over a two-photon resonance in a three-level Λ-type system. The probe beam extinction is inhibited by more than 75% due to population trapping.

19.
Phys Rev Lett ; 104(12): 127001, 2010 Mar 26.
Artigo em Inglês | MEDLINE | ID: mdl-20366558

RESUMO

We have studied the magnetic order inside the superconducting phase of CeCoIn5 for fields along the [1 0 0] crystallographic direction using neutron diffraction. We find a spin-density wave order with an incommensurate modulation Q=(q,q,1/2) and q=0.45(1), which within our experimental uncertainty is indistinguishable from the spin-density wave found for fields applied along [1 -1 0]. The magnetic order is thus modulated along the lines of nodes of the d{x{2}-y{2}} superconducting order parameter, suggesting that it is driven by the electron nesting along the superconducting line nodes. We postulate that the onset of magnetic order leads to reconstruction of the superconducting gap function and a magnetically induced pair density wave.

20.
Gynecol Obstet Invest ; 70(4): 299-305, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-21051851

RESUMO

INTRODUCTION: Small for gestational age (SGA) is an important problem affecting 10% of pregnancies and is associated with significant perinatal morbidity. In about 80% of cases, a probable etiology or a major risk factor can be identified. But almost 20% of SGA cases are considered unexplained. The 60-kDa heat shock protein (HSP60) is a highly immunogenic protein whose synthesis is greatly upregulated under nonphysiological conditions. Bacterial and human HSP60 share a high degree of sequence homology, and immunity to conserved epitopes may result in development of autoimmunity following a bacterial infection. We hypothesized that unexplained SGA could be the consequence of immune sensitization to human HSP60. METHODS: Unexplained SGA fetuses were identified by ultrasound biometry with normal Doppler velocimetry and with no detectable maternal or fetal abnormalities. Fetal sera were obtained by cordocentesis performed for a karyotype analysis in cases of unexplained SGA (study group) or for screening of Rhesus incompatibility (control group). Fetal sera were tested for HSP60 antigen and for IgG and IgM anti-HSP60 by ELISA as well as for other immune and hematological parameters. RESULTS: Maternal parameters were similar between the 12 study cases and the 23 control cases. The mean gestational age at cordocentesis was 29 weeks. IgM anti-HSP60 was detected in 12 cases (100%) and in no controls (p < 0.00017), while IgG anti-HSP60 was detected in 7 cases (58%) and only 1 control (p < 0.001). Three of the 4 cases with the highest IgM antibody levels died. There were no differences in fetal serum levels of HSP60 antigen or other immune and hematological markers between the two groups. CONCLUSION: Fetuses with unexplained SGA are positive for IgM and IgG antibody to human HSP60 and the specific IgM antibody level is predictive of fetal mortality. Detection of these antibodies indicates that a placental perturbation and a fetal autoimmune reaction to HSP60 are associated with this developmental delay.


Assuntos
Anticorpos/sangue , Chaperonina 60/imunologia , Sangue Fetal/imunologia , Peso Fetal , Idade Gestacional , Adulto , Biomarcadores/sangue , Chaperonina 60/sangue , Cordocentese , Feminino , Morte Fetal/imunologia , Humanos , Imunoglobulina G/sangue , Imunoglobulina M/sangue , Recém-Nascido , Recém-Nascido Pequeno para a Idade Gestacional/imunologia , Cariotipagem , Gravidez , Ultrassonografia Pré-Natal
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