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1.
Proc Natl Acad Sci U S A ; 119(52): e2211881119, 2022 12 27.
Artigo em Inglês | MEDLINE | ID: mdl-36538480

RESUMO

Sphingomonas is one of the most abundant bacterial genera in the phyllosphere of wild Arabidopsis thaliana, but relative to Pseudomonas, the ecology of Sphingomonas and its interaction with plants is poorly described. We analyzed the genomic features of over 400 Sphingomonas isolates collected from local A. thaliana populations, which revealed much higher intergenomic diversity than for the considerably more uniform Pseudomonas isolates found in the same host populations. Variation in Sphingomonas plasmid complements and additional genomic features suggest high adaptability of this genus, and the widespread presence of protein secretion systems hints at frequent biotic interactions. While some of the isolates showed plant-protective phenotypes in lab tests, this was a rare trait. To begin to understand the extent of strain sharing across alternate hosts, we employed amplicon sequencing and a bulk-culturing metagenomics approach on both A. thaliana and neighboring plants. Our data reveal that both Sphingomonas and Pseudomonas thrive on other diverse plant hosts, but that Sphingomonas is a poor competitor in dying or dead leaves.


Assuntos
Arabidopsis , Arabidopsis/genética , Arabidopsis/microbiologia , Bactérias , Plantas , Pseudomonas/genética
2.
Plant Dis ; 108(2): 375-381, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37578371

RESUMO

Sterol demethylation inhibitor (DMI) fungicides continue to be essential components for the control of brown rot of peach caused by Monilinia fructicola in the United States and worldwide. In the southeastern United States, resistance to DMIs had been associated with overexpression of the cytochrome P450 14α-demethylase gene MfCYP51 as well as the genetic element Mona, a 65 bp in length nucleotide sequence located upstream of MfCYP51 in resistant isolates. About 20 years after the first survey, we reevaluated sensitivity of M. fructicola from South Carolina and Georgia to propiconazole and also evaluated isolates from Alabama for the first time. A total of 238 M. fructicola isolates were collected from various commercial and two experimental orchards, and sensitivity to propiconazole was determined based on a discriminatory dose of 0.3 µg/ml. Results indicated 16.2, 89.2, and 72.4% of isolates from Alabama, Georgia, and South Carolina, respectively, were resistant to propiconazole. The detection of resistance in Alabama is the first report for the state. All resistant isolates contained Mona, but it was absent from most sensitive isolates. It was unclear if the resistance frequency had increased in South Carolina and Georgia. However, the resistance levels (as assessed by the isolate frequency in discriminatory dose-based relative growth categories) did not change notably, and no evidence of other resistance genotypes was found. Analysis of the upstream MfCYP51 gene region in the resistant isolate CF010 revealed an insertion sequence described for the first time in this report. Our study suggests that current fungicide spray programs have been effective against increasing resistance levels in populations of M. fructicola and suppressing development of new resistant genotypes of the pathogen.


Assuntos
Ascomicetos , Fungicidas Industriais , Triazóis , Estados Unidos , Fungicidas Industriais/farmacologia , Ascomicetos/genética , Georgia
3.
N C Med J ; 84(6): 373-378, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-39347638

RESUMO

As millions of Veterans and Service Members seek care in the community, it is important to understand the needs of this vulnerable population regarding occupational expo-sures. Inadequate preparedness to recognize and treat service-related/suspected medical complications is an issue among clinical providers that needs urgent attention.


Assuntos
Exposição Ocupacional , Veteranos , Humanos , Exposição Ocupacional/prevenção & controle , Exposição Ocupacional/efeitos adversos , North Carolina , Programas de Rastreamento/métodos , Estados Unidos
4.
Plant Dis ; 105(4): 958-964, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32886041

RESUMO

Resistance to sterol demethylation inhibitor (DMI) fungicides in Monilinia fructicola, causal agent of brown rot of stone fruit, has been reported in the southeastern and eastern United States and in Brazil. DMI resistance of some M. fructicola isolates, in particular those recovered from the southeastern United States, is associated with a sequence element termed "Mona" that causes overexpression of the cytochrome demethylase target gene MfCYP51. In this study, we conducted statewide surveys of Michigan stone fruit orchards from 2009 to 2011 and in 2019, and we determined the sensitivity to propiconazole of a total of 813 isolates of M. fructicola. A total of 80.7% of Michigan isolates were characterized as resistant to propiconazole by relative growth assays, but the Mona insert was not uniformly detected and was present in some isolates that were not characterized as DMI resistant. Gene expression assays indicated that elevated expression of MfCYP51 was only weakly correlated with DMI resistance in M. fructicola isolates from Michigan, and there was no obvious correlation between the presence of the Mona element and elevated expression of MfCYP51. However, sequence analysis of MfCYP51 from 25 DMI-resistant isolates did not reveal any point mutations that could be correlated with resistance. Amplification and sequencing upstream of MfCYP51 resulted in detection of DNA insertions in a wide range of isolates typed by DMI phenotype and the presence of Mona or other unique sequences. The function of these unique sequences or their presence upstream of MfCYP51 cannot be correlated to a DMI-resistant genotype at this time. Our results indicate that DMI resistance was established in Michigan populations of M. fructicola by 2009 to 2011, and that relative resistance levels have continued to increase to the point that practical resistance is present in most orchards. In addition, the presence of the Mona insert is not a marker for identifying DMI-resistant isolates of M. fructicola in Michigan.


Assuntos
Fungicidas Industriais , Ascomicetos , Brasil , Desmetilação , Farmacorresistência Fúngica/genética , Fungicidas Industriais/farmacologia , Michigan , Sudeste dos Estados Unidos
5.
Inorganica Chim Acta ; 5212021 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-34635861

RESUMO

A mentoring relationship is a close, individualized relationship that develops over time between a graduate student and his/her adviser, and that includes both caring and guidance. Although there is a connection between mentors and advisers, not all mentors are advisers and not all advisers are mentors, but in this case, one adviser was a mentor to all. In his eloquent style, an inspirational mentor of underrepresented individuals in Jamaica by the name of Prof. Tara Prasad Dasgupta, AKA Prof., paved the way for many us who studied in the Department of Chemistry, The University of the West Indies, Mona Campus, Jamaica from 1974 until his passing on Monday, April 2020 due to the complications of the COVID-19. Based on his effective mentoring style and the fact that there is low percentage of underrepresented individuals who pursue Ph.D. degrees in the STEM subjects around the world, more so here in the U.S.A., Europe, and in the U.K., hence there is a need to write about a story on sustaining a legacy in STEM the Prof. Tara Prasad Dasgupta way, viz., the role of a mentor in our lives. As such, his style is documented here, along with testimonies from his former graduate students, including myself.

6.
Eur J Dent Educ ; 22(3): 143-150, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28805024

RESUMO

FOCUS: The introduction of the landmark mandatory teaching of sign language to undergraduate dental students at the University of the West Indies (UWI), Mona Campus in Kingston, Jamaica, to bridge the communication gap between dentists and their patients is reviewed. LITERATURE REVIEW: A review of over 90 Doctor of Dental Surgery and Doctor of Dental Medicine curricula in North America, the United Kingdom, parts of Europe and Australia showed no inclusion of sign language in those curricula as a mandatory component. HISTORY OF SIGN LANGUAGE IN DENTAL EDUCATION: In Jamaica, the government's training school for dental auxiliaries served as the forerunner to the UWI's introduction of formal training of sign language in 2012. Outside of the UWI, a couple of dental schools have sign language courses, but none have a mandatory programme as the one at the UWI. PROGRAMME RATIONALE: Dentists the world over have had to rely on interpreters to sign with their deaf patients. The deaf in Jamaica have not appreciated the fact that dentists cannot sign and they have felt insulted and only go to the dentist in emergency situations. The mandatory inclusion of sign language in the Undergraduate Dental Programme curriculum at The University of the West Indies, Mona Campus, sought to establish a direct communication channel to formally bridge this gap. PROGRAMME DEVELOPMENT: The programme of two sign language courses and a direct clinical competency requirement was developed during the second year of the first cohort of the newly introduced undergraduate dental programme through a collaborating partnership between two faculties on the Mona Campus. IMPLEMENTATION: The programme was introduced in 2012 in the third year of the 5-year undergraduate dental programme. PROGRAMME REVIEW & OUTCOMES: To date, two cohorts have completed the programme, and the preliminary findings from an ongoing clinical study have shown a positive impact on dental care access and dental treatment for deaf patients at the UWI Mona Dental Polyclinic. IMPLICATIONS: The development of a direct communication channel between dental students and the deaf that has led to increased dental access and treatment for the deaf can be extended to dentists and to other dental students globally. The vision is that similar courses will be introduced in other health training programmes at the UWI, and conceivably, in other institutions. LIMITATIONS: The small sample size allows for informative, but not definitive, conclusions to be drawn. CONCLUSION: The mandatory inclusion of sign language and Deaf culture in the dental curricula has not just removed a communication barrier, but has assisted in the empathetic and ethical development of the dental student.


Assuntos
Comunicação , Currículo/tendências , Relações Dentista-Paciente , Educação em Odontologia/métodos , Educação em Odontologia/tendências , Educação de Graduação em Medicina/métodos , Educação de Graduação em Medicina/tendências , Pessoas com Deficiência Auditiva , Língua de Sinais , Estudantes de Odontologia , Humanos , Jamaica , Desenvolvimento de Programas , Inquéritos e Questionários
7.
Hum Brain Mapp ; 36(2): 619-32, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25327821

RESUMO

The Mona Lisa effect describes the phenomenon when the eyes of a portrait appear to look at the observer regardless of the observer's position. Recently, the metaphor of a cone of gaze has been proposed to describe the range of gaze directions within which a person feels looked at. The width of the gaze cone is about five degrees of visual angle to either side of a given gaze direction. We used functional magnetic resonance imaging to investigate how the brain regions involved in gaze direction discrimination would differ between centered and decentered presentation positions of a portrait exhibiting eye contact. Subjects observed a given portrait's eyes. By presenting portraits with varying gaze directions-eye contact (0°), gaze at the edge of the gaze cone (5°), and clearly averted gaze (10°), we revealed that brain response to gaze at the edge of the gaze cone was similar to that produced by eye contact and different from that produced by averted gaze. Right fusiform gyrus and right superior temporal sulcus showed stronger activation when the gaze was averted as compared to eye contact. Gaze sensitive areas, however, were not affected by the portrait's presentation location. In sum, although the brain clearly distinguishes averted from centered gaze, a substantial change of vantage point does not alter neural activity, thus providing a possible explanation why the feeling of eye contact is upheld even in decentered stimulus positions.


Assuntos
Encéfalo/fisiologia , Fixação Ocular , Percepção Visual/fisiologia , Adulto , Mapeamento Encefálico , Olho , Feminino , Humanos , Julgamento/fisiologia , Imageamento por Ressonância Magnética , Masculino , Testes Neuropsicológicos , Estimulação Luminosa , Retratos como Assunto , Adulto Jovem
8.
Sci Rep ; 14(1): 12250, 2024 05 28.
Artigo em Inglês | MEDLINE | ID: mdl-38806507

RESUMO

Mona Lisa's ambiguous expression, oscillating between melancholy and contentment, has captivated viewers for centuries, prompting diverse explanations. This article proposes a novel interpretation grounded in the psychological theory of perceptual organisation. Central to the investigation is the "Ambiguity-Nuance", a subtly shaded, blended region framing the upper part of the lips, hypothesised to influence perceived expression due to perceptual organization. Through carefully crafted artwork and systematic manipulations of Mona Lisa reproductions, experiments reveal how alterations in the perceptual relationships of the Ambiguity-Nuance yield significant shifts in perceived expression, explaining why Mona Lisa's appearance changes and under which conditions she looks content versus melancholic based on perceptual organization. These findings underscore the pivotal role of psychological principles in shaping ambiguous expressions in the Mona Lisa, and extend to other Leonardo's portraits, namely La Bella Principessa and Scapigliata. This study sheds light on the intersection of psychology and art, offering new perspectives on timeless masterpieces.


Assuntos
Sorriso , Humanos , Feminino , Expressão Facial , Pessoas Famosas , Pinturas
9.
Environ Sci Pollut Res Int ; 31(18): 27403-27415, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38512568

RESUMO

The critical impact of sodium-doped molybdenum (MoNa) in shaping the MoSe2 interfacial layer, influencing the electrical properties of CIGSe/Mo heterostructures, and achieving optimal MoSe2 formation conditions, leading to improved hetero-contact quality. Notably, samples with a 600-nm-thick MoNa layer demonstrate the highest resistivity (73 µΩcm) and sheet resistance (0.45 Ω/square), highlighting the substantial impact of MoNa layer thickness on electrical conductivity. Controlled sodium diffusion through MoNa layers is essential for achieving desirable electrical characteristics, influencing Na diffusion rates, grain sizes, and overall morphology, as elucidated by EDX and FESEM analyses. Additionally, XRD results provide insights into the spontaneous peeling-off phenomenon, with the sample featuring a ~ 600-nm MoNa layer displaying the strongest diffraction peak and the largest crystal size, indicative of enhanced Mo to MoSe2 conversion facilitated by sodium presence. Raman spectra further confirm the presence of MoSe2, with its thickness correlating with MoNa layer thickness. The observed increase in resistance and decrease in conductivity with rising MoSe2 layer thickness underscore the critical importance of optimal MoSe2 formation for transitioning from Schottky to ohmic contact in CIGSe/Mo heterostructures. Ultimately, significant factors to the advancement of CIGSe thin-film solar cell production are discussed, providing nuanced insights into the interplay of MoNa and MoSe2, elucidating their collective impact on the electrical characteristics of CIGSe/Mo heterostructures.


Assuntos
Molibdênio , Sódio , Molibdênio/química , Sódio/química , Condutividade Elétrica
10.
Heliyon ; 9(4): e14865, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37025869

RESUMO

Frank-Ter Haar syndrome (FTHS), Winchester syndrome (WS), Torg syndrome (TS) and Multicentric Osteolysis Nodulosis and Arthropathy (MONA) are progressive skeletal dysplasia consisting of acro-osteolysis. Mutation in Matrix Metalloproteinase 2 (MMP2), Matrix Metalloproteinase 14 (MMP14) and SH3PXD2B are known genetic defects in these disorders. We hereby report a 5 years and 9 months old girl suffering from progressive limb deformity. She is the first child of a relative couple, who was referred to metabolic disorders' clinic due to poor growth and bone pain. On physical examination, minor facial dysmorphism, hypertrichosis, severe hand deformity with limitation in range of motion in carpal, metacarpal and phalangeal joints, hallux valgus deformity of feet, soft tissue hypertrophy and nodule formation in palmoplantar areas were detected. Her past history indicated a cardiac defect resulting in open heart surgery at 8 months of age. Genetic study revealed a new homozygote nonsense mutation in MMP2 gene explaining her clinical manifestations. We recommend careful evaluation and follow-up of patients with congenital heart disease, as it may be the first presentation of a genetic multisystem disorder. Early differentiation of the disease from other skeletal dysplasia and rheumatologic disorders could prevent unnecessary management.

11.
Front Hum Neurosci ; 16: 878288, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35845241

RESUMO

We present results from two experiments aimed at studying the direction of Mona Lisa's gaze and its affective expression. In experiment 1 we studied the effect of retinal image size on the perception of her gaze by manipulating observation distances of a high-quality print of the painting. Participants (N = 30) were asked to answer a simple question (is the person portrayed looking at you?) from six different distances ranging from 55 to 755 cm. One group of participants started evaluations from 55 cm; the other group did the opposite. Results show an effect of distance on the perception of Mona Lisa's gaze as staring at the observer: from the furthest distances, the impression of a staring Mona Lisa is robust; from the nearest distances, such impression becomes ambiguous. Experiment 2 presents data concerning the direction of Mona Lisa's gaze and whether this appears to be smiling, derived from an experiment aimed at studying the impression of gaze (direction and emotional content) in portraits (paintings and photographs). Only data concerning Mona Lisa are reported. Participants (N = 41) were randomly assigned to one of two groups: on a LCD screen, one group saw the entire head, and the other group saw only a section reproducing Mona Lisa's eyes. Experimental sessions were two: in session 1 participants had to decide whether the image (whole-head or eyes only) was looking at them; in session 2 participants had to decide whether the head (or the eyes) was smiling. RTs from the two groups of participants were not statistically significant. Results for session 1 confirm experiment 1's general findings. Results for session 2 clearly show that Mona Lisa is not only smiling with her face, but also with her eyes. Results are discussed in relation to the literature on Mona Lisa's gaze and smile.

12.
Orphanet J Rare Dis ; 16(1): 485, 2021 11 20.
Artigo em Inglês | MEDLINE | ID: mdl-34801073

RESUMO

PURPOSE: The aim of this case control study was to evaluate the prognostic value of automatically quantified retinal vessel tortuosity from fundus images and vessel density from OCT-A in Fabry disease and to evaluate the correlation of these with systemic disease parameters. METHODS: Automatically quantified perimacular retinal vessel tortuosity (MONA REVA software), acquired by fundus imaging, and perifoveal retinal vessel density, acquired by optic coherence tomography angiography (OCT-A) were compared between 26 FD patients and 26 controls. Gender and FD phenotype were analyzed to the obtained retinovascular data and correlated to the Mainz severity score index (MSSI) and plasma lyso-Gb3. RESULTS: Automatically quantified retinal vessel tortuosity indices of FD patients were significantly lower, reflecting an increased vessel tortuosity, compared to controls (p = 0.008). Males with a classical phenotype showed significantly lower retinal vessel tortuosity indices compared to males with an oligosymptomatic phenotype and females with a classical or oligosymptomatic phenotype (p < 0.001). The retinal vessel tortuosity index correlated significantly with systemic disease severity parameters [global MSSI (r = - 0.5; p < 0.01), cardiovascular MSSI (r = - 0.5; p < 0.01), lyso-Gb3 (r = - 0.6; p < 0.01)]. CONCLUSION: We advocate fundus imaging based automatically quantified retinal vessel tortuosity index over OCT-A imaging as it is a quick, non-invasive, easily assessable, objective and reproducible marker.


Assuntos
Doença de Fabry , Estudos de Casos e Controles , Doença de Fabry/genética , Feminino , Humanos , Masculino , Prognóstico , Vasos Retinianos , Índice de Gravidade de Doença , Tomografia de Coerência Óptica/métodos
13.
Cureus ; 13(7): e16615, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34466312

RESUMO

Multicentric Osteolysis Nodulosis and Arthropathy (MONA) is an ultra-rare multisystem autosomal recessive disorder characterized by progressive osteolysis, subcutaneous nodules and developing arthropathy. The characteristic radiological signs combined with symptoms resembling juvenile idiopathic arthritis (JIA) set the diagnosis, which is established either by measuring matrix metalloproteinase-2 (MMP-2) enzyme activity through electrophoresis (zymography) or genomic testing. We report the clinical and radiographic findings of a 14-year-old girl with molecularly proven MONA, who presented with painless osteolytic changes of the feet and upper extremities and developed hip arthritis. To this day, no specific therapy has been identified with proven long term relief and control of the disease progression.

14.
Bone Rep ; 15: 101106, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34307793

RESUMO

Multicentric Osteolysis, Nodulosis, and Arthropathy (MONA) syndrome is a rare genetic skeletal dysplasia. Its diagnosis can be deceptively similar to childhood-onset genetic skeletal dysplasias and juvenile idiopathic arthritis. We aimed to report the syndrome's clinical and radiologic features with emphasis on skeletal manifestations. And establish relevant phenotype-genotype correlations. We evaluated two boys, 4-and-7-years-old with MONA syndrome. Both patients had consanguineous parents. We verified the diagnosis by correlating the outcomes of clinical, radiologic and molecular analysis. We specifically evaluated the craniofacial morphology and clinical and radiographic skeletal abnormalities. We contextualized the resultant phenotype-genotype correlations to publications on MONA and its differential diagnosis. Skeletal manifestations were the presenting symptoms and mostly restricted to hands and feet in terms of fixed extension deformity of the metacarpophalangeal and flexion deformity of the interphalangeal joints with extension deformity of big toes. There were arthritic symptoms in the older patient especially of the wrists and minute pathologic fractures. The skeletal radiographs showed osteopenia/dysplastic changes of hands and feet. Both patients had variants in the matrix metalloproteinase2 gene which conformed to phenotype of previously reported literature in one patient while the other had a novel variant which conformed to MONA phenotype. Craniofacial abnormalities were present. However, minimal extra-skeletal manifestations. Overall, there is an emerging distinctive skeletal pattern of involvement in terms of both clinical and radiographic features. This includes age of onset and location of presenting skeletal manifestations, chronological order of joint affection, longitudinal disease progression, specifics of skeletal radiographic pathology and craniofacial features. Nevertheless, physicians are cautioned against differential diagnosis of similar genetic skeletal dysplasias and juvenile idiopathic arthritis.

15.
Adv Mater ; 33(12): e2007090, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33599013

RESUMO

Sodium-ion batteries (SIBs) based on conversion-type metal sulfide (MS) anodes have attracted extraordinary attention due to relatively high capacity and intrinsic safety. The highly reversible conversion of M/Na2 S to pristine MS in charge plays a vital role with regard to the electrochemical performance. Here, taking conventional MoS2 as an example, guided by theoretical simulations, a catalyst of iron single atoms on nitrogen-doped graphene (SAFe@NG) is selected and first used as a substrate to facilitate the reaction kinetics of MoS2 in the discharging process. In the following charging process, using a combination of spectroscopy and microscopy, it is demonstrated that the SAFe@NG catalyst enables an efficient reversible conversion reaction of Mo/Na2 S→NaMoS2 →MoS2 . Moreover, theoretical simulations reveal that the reversible conversion mechanism shows favorable formation energy barrier and reaction kinetics, in which SAFe@NG with the Fe-N4 coordination center facilitates the uniform dispersion of Na2 S/Mo and the decomposition of Na2 S and NaMoS2 . Therefore, efficient reversible conversion reaction MoS2 ↔NaMoS2 ↔Mo/Na2 S is enabled by the SAFe@NG catalyst. This work contributes new avenues for designing conversion-type materials with an efficient reversible mechanism.

16.
J Med Humanit ; 42(4): 795-799, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34448105

RESUMO

The interconnection of scientific studies and art represented by Leonardo Da Vinci's (1452-1519) portraiture accentuates his role in documenting and archiving dermatologic conditions. His anatomical dissections, sketches, and paintings, including portraits, were all a means to observe, portray, and understand the nuances of the human body. In two of his most discussed portraits, Ginevra de' Benci (1474-1478) and Elisabetta del Giocondo, the Mona Lisa (1503-1506), Leonardo's execution of the exterior anatomy is so precise that he may have illustrated manifestations of disease that allow contemporary researchers to theorize diagnoses of dermatologic as well as neurologic, endocrine and vascular conditions. These include hypochromic anemia, muscular disorders, xanthelasma, thyroid disease, lipoma, and frontal fibrosing alopecia. Leonardo's extraordinary talent in recording his observations of shades and textures of skin and his ability to capture the nuances of subtle variations in the human body have produced a historical record that allows modern dermatology practitioners to make further observations not possible in his time. Here, dermatology and art intersect serving to document and explain the human condition, permanently archived in Leonardo's masterpieces.


Assuntos
Pessoas Famosas , História do Século XVI , Humanos , Masculino
17.
Mol Genet Genomic Med ; 7(8): e802, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31268248

RESUMO

BACKGROUND: MONA, which stands for a spectrum of Multicentric Osteolysis, subcutaneous Nodulosis, and Athropathia, is an ultra rare autosomal recessive disorder caused by mutations in the matrix metallopeptidase 2 (MMP2) gene. To date only 44 individuals, carrying 22 different mutations have been reported. Here we report on two brothers with identical homozygous MMP2 gene mutations, but with clearly different phenotypes. METHODS: Genomic DNA was isolated from the affected brothers and the parents. An iliac crest bone biopsy was taken from the younger patient (index case). The level of matrix metallopeptidase 2 enzyme (MMP2) in serum and synovial fluid of the younger patient was analyzed using gelatin zymography. RESULTS: The DNA analysis revealed a homozygous c.1188C>A transversion on exon 8 of the gene. The affected brothers had the same homozygous variant and the parents were heterozygous to this variant. This variant has been reported as a compound heterozygous mutation on one individual resulting in scleroderma like skin thickening. Bone histomorphometry indicated increased trabecular bone remodeling and turnover. The zymography revealed that the level of MMP2 was completely nonmeasurable in the serum and only a minor gelatinolytic protein band of about similar molecular weight as MMP2 was found in the synovial fluid. CONCLUSIONS: Both the age at the onset and the phenotypic severity of the syndrome in these two brothers were different despite identical genotypes. The younger patients had corneal opacities leading to deteriorating visual acuity. For the first time in this disease, opacities were successfully treated with corneal transplantations.


Assuntos
Predisposição Genética para Doença/genética , Síndrome de Hajdu-Cheney/genética , Metaloproteinase 2 da Matriz/genética , Mutação , Sequência de Bases , Osso e Ossos/patologia , Criança , Pré-Escolar , DNA/análise , Análise Mutacional de DNA , Estudos de Associação Genética , Genótipo , Síndrome de Hajdu-Cheney/patologia , Síndrome de Hajdu-Cheney/fisiopatologia , Homozigoto , Humanos , Masculino , Metaloproteinase 2 da Matriz/sangue , Anormalidades Musculoesqueléticas , Osteólise , Fenótipo , Pele/patologia , Líquido Sinovial
18.
Cortex ; 120: 607-610, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31010582

RESUMO

The Mona Lisa portrait, by Leonardo da Vinci, is one of the most famous paintings in the world. Over the years, there have been a number of debated topics on the painting, including the valence of the emotion expressed on her face. Nevertheless, the most recent interpretations agree that Mona Lisa expression is happiness. The smile asymmetry of Mona Lisa is another remarkable feature of the painting. We here asked forty-two healthy raters to judge which of the six basic emotions (or neutral expression) was expressed by the chimeric images of the left or right lower hemi face. We collected chosen responses, confidence levels and reaction times. Our results indicate that happiness is expressed only on the left side. According to some influent theories of emotion neuropsychology, we here interpreted the Mona Lisa asymmetric smile as a non-genuine smile, also thought to occur when the subject lies. Given that Leonardo was a great observer of human physiognomy we speculate on the intriguing possibility that Leonardo already knew the true meaning of asymmetric smile. Thus, Mona Lisa asymmetric smile could represent a stratagem Leonardo deliberately used to hold cryptic and enigmatic messages. Although the Mona Lisa smile continues to attract the attention of its observers, the true message it conveys remains elusive and many unsolved mysteries remain to be elucidated, perhaps via the knowledge of emotion neuropsychology.


Assuntos
Expressão Facial , Medicina nas Artes , Pinturas , Sorriso , Feminino , Felicidade , Humanos
19.
Mycobiology ; 47(4): 457-465, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-32010467

RESUMO

MonA is a subunit of a guanine nucleotide exchange factor that is important for vacuole passing and autophagy processes in eukaryotes. In this study, we characterized the function of MonA, an orthologue of Saccharomyces cerevisiae Mon1, in the model fungus Aspergillus nidulans and a toxigenic fungus A. flavus. In A. nidulans, the absence of AnimonA led to decreased fungal growth, reduced asexual reproduction, and defective cleistothecia production. In addition, AnimonA deletion mutants exhibited decreased spore viability, had reduced trehalose contents in conidia, and were sensitive to thermal stress. In A. flavus, deletion of AflmonA caused decreased fungal growth and defective production of asexual spores and sclerotia structures. Moreover, the absence of monA affected vacuole morphology in both species. Taken together, these results indicate that MonA plays conserved roles in controlling fungal growth, development and vacuole morphology in A. nidulans and A. flavus.

20.
Iperception ; 10(1): 2041669518821702, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30671222

RESUMO

If the person depicted in an image gazes at the camera or painter, a viewer perceives this as being gazed at. The viewers' perception holds irrespectively of their position relative to image. This is the Mona Lisa effect named after the subject of Leonardo's famous painting La Gioconda. The effect occurs reliably but was not tested with Mona Lisa herself. Remarkably, viewers judged Mona Lisa's gaze as directed to their right-hand side irrespectively of the image zoom, its horizontal position on screen, and the distance of the ruler that was used for measuring the gaze direction.

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