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1.
Eur J Hum Genet ; 2019 Dec 05.
Artigo em Inglês | MEDLINE | ID: mdl-31804632

RESUMO

Fragile X syndrome (FXS) is a very frequent cause of inherited intellectual disability (ID) and autism. Most FXS patients have an expansion over 200 repeats of (CGG)n sequence ("full mutation" (FM)) located in the 5'UTR of the FMR1 gene, resulting in local DNA methylation (methylated "full mutation" (MFM)) and epigenetic silencing. The absence of the FMRP protein is responsible for the clinical phenotype of FXS. FM arises from a smaller maternal allele with 56-200 CGG repeats ("premutation" (PM)) during maternal meiosis. Carriers of PM alleles, which are typically unmethylated, can manifest other clinical features (primary ovarian insufficiency (POI) or FXS-associated tremor-ataxia syndrome (FXTAS)), known as fragile X-related disorders. In FXS families, rare males who have inherited an unmethylated "full mutation" (UFM) have been described. These individuals produce enough FMRP to allow normal intellectual functioning. Here we report the rare case of three sisters with a completely methylated PM of around 140 CGGs and detail their neuropsychological function. X inactivation analysis confirmed that the three sisters have a random inactivation of the X chromosome, suggesting that the PM allele is always methylated also when residing on the active X. We propose that in exceptional cases, just as the FM may be unmethylated, also a PM allele may be fully methylated. To our knowledge, females with a methylated PM allele and a mild impairment have reported only once. The study of these atypical individuals demonstrates that the size of the CGG expansion is not as tightly coupled to methylation as previously thought.

2.
Clin Genet ; 2019 Nov 08.
Artigo em Inglês | MEDLINE | ID: mdl-31705537

RESUMO

To better understand the landscape of female phenotypic expression in X-linked intellectual disability (XLID), we surveyed the literature for female carriers of XLID gene alterations (n = 1098) and combined this with experience evaluating XLID kindreds at the Greenwood Genetic Center (n = 341) and at the University of Adelaide (n = 157). One-hundred forty-four XLID genes were grouped into nine categories based on the level of female phenotypic expression, ranging from no expression to female only expression. For each gene, the clinical presentation, gene expression in blood, X-inactivation (XI) pattern, biological pathway involved, and whether the gene escapes XI were noted. Among the XLID conditions, 88 (61.1%) exhibited female cognitive phenotypic expression only, while 56 (38.9%) had no female phenotypic expression (n = 45), phenotype expression with normal cognition in females (n = 8), or unknown status for female phenotypic expression (n = 3). In twenty-four (16.6%) XLID genes, XI was consistently skewed in female carriers, in 54 (37.5%) XI showed variable skewing, and in 33 (22.9%) XI was consistently random. The XI pattern was unknown in 33 (22.9%) XLID conditions. Therefore, there is evidence of a female carrier phenotype in the majority of XLID conditions although how exactly XI patterns influence the female phenotype in XLID conditions remains unclear.

3.
Eur J Ophthalmol ; : 1120672119876547, 2019 Sep 20.
Artigo em Inglês | MEDLINE | ID: mdl-31538489

RESUMO

AIM: To demonstrate the morphological outcomes of macular hole following prophylactic peripheral laser retinopexy (PPLR). METHODS: Our retrospective case-control analysis included 92 eyes, 55 in the laser group and 37 in the non-laser group. Fifty-five patients were subjected to prophylactic peripheral laser retinopexy in preparation for pars plana vitrectomy for macular hole, with and without vitreomacular adhesion (laser group). Before and after prophylactic peripheral laser retinopexy, we evaluated any changes in vitreomacular anatomy by optical coherence tomography. Optical coherence tomography changes were also analyzed in the visits preceding pars plana vitrectomy in 37 macular hole eyes not subjected to prophylactic peripheral laser retinopexy (non-laser group). RESULTS: In the laser group, 7 out of 55 eyes (12.7%) showed macular hole closure (6 out of 18 macular hole eyes with vitreomacular adhesion (33.3%) and 1 out of 37 eyes without vitreomacular adhesion (2.7%)), while no patients showed macular hole closure in the non-laser group (p < 0.05). The mean width of the seven closed macular hole was 191.4 µm (range: 59-282 µm). In all except one of the six macular hole eyes with vitreomacular adhesion, the macular hole closed without vitreomacular adhesion release. In our analysis of the patient subgroup with vitreomacular adhesion, we observed a release of vitreomacular adhesion in 3 out of 18 eyes (16.6%) in the laser group and in 1 out of 13 eyes (7.6%) in the non-laser group (p > 0.05). CONCLUSION: These findings support a possible beneficial role for prophylactic peripheral laser retinopexy in selected individuals with macular hole.

4.
Sensors (Basel) ; 19(15)2019 Aug 05.
Artigo em Inglês | MEDLINE | ID: mdl-31387328

RESUMO

Sensing properties of chemical sensors based on ternary hydroxyapatite-graphene-multiwalled carbon nanotube (HA-GN-MWCNT) nanocomposite in the detection of chemical substances representing risk factors for sudden infant death syndrome (SIDS), have been evaluated. Characterization data of the synthesized composite have shown that the graphene-MWCNT network serves as a matrix to uniformly disperse the hydroxyapatite nanoparticles and provide suitable electrical properties required for developing novel electrochemical and conductometric sensors. A HA-GN-MWCNT composite-modified glassy carbon electrode (HA-GN-MWCNT/GCE) has been fabricated and tested for the simultaneous monitoring of nicotine and caffeine by cyclic voltammetry (CV) and square wave voltammetry (SWV), whereas a HA-GN-MWCNT conductive gas sensor has been tested for the detection of CO2 in ambient air. Reported results suggest that the synergic combination of the chemical properties of HA and electrical/electrochemical characteristics of the mixed graphene-MWCNT network play a prominent role in enhancing the electrochemical and gas sensing behavior of the ternary HA-GN-MWCNT hybrid nanostructure. The high performances of the developed sensors make them suitable for monitoring unhealthy actions (e. g. smoking, drinking coffee) in breastfeeding women and environmental factors (bad air quality), which are associated with an enhanced risk for SIDS.

5.
Sensors (Basel) ; 19(1)2019 Jan 05.
Artigo em Inglês | MEDLINE | ID: mdl-30621254

RESUMO

In the present work, hematite (α-Fe2O3) nanopowders were successfully prepared via a hydrothermal route. The morphology and microstructure of the synthesized nanopowders were analyzed by using scanning and transmission electron microscopy (SEM and TEM, respectively) analysis and X-ray diffraction. Gas sensing devices were fabricated by printing α-Fe2O3 nanopowders on alumina substrates provided with an interdigitated platinum electrode. To determine the sensor sensitivity toward NO2, one of the main environmental pollutants, tests with low concentrations of NO2 in air were carried out. The results of sensing tests performed at the operating temperature of 200 °C have shown that the α-Fe2O3 sensor exhibits p-type semiconductor behavior and high sensitivity. Further, the dynamics exhibited by the sensor are also very fast. Lastly, to determine the selectivity of the α-Fe2O3 sensor, it was tested toward different gases. The sensor displayed large selectivity to nitrogen dioxide, which can be attributed to larger affinity towards NO2 in comparison to other pollutant gases present in the environment, such as CO and CO2.

6.
Schizophr Res ; 210: 164-171, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30642687

RESUMO

Gender is associated with several features of psychotic disorders, including age of illness onset, symptomatology, a higher prevalence of history of childhood sexual abuse (CSA) and needs for care. Childhood sexual abuse is associated with adverse mental health consequences but as there is a gender difference in stress reactivity, there may be a differential impact of CSA on psychopathology, age of psychosis onset and needs for care in First Episode Psychosis (FEP) patients. We hypothesized that a history of abuse would be associated with lowering of age of onset, increased symptomatology and more unmet needs in women but not men. A total of 444 FEP patients have been recruited within the context of the GET UP trial. Symptomatology has been assessed using the PANSS scale, needs for care with the CAN scale and childhood abuse with the CECA-Q scale. Childhood sexual abuse was more frequent among female patients [22.6% in women vs 11.6% in men (OR = 0.45, p < 0.01)], whereas there was no gender difference in the prevalence of childhood physical abuse (29.0% in women vs 31.7% in men). Childhood abuse was associated with higher levels of negative symptoms in both men and women, with a reduced age of onset in women only and little increase in needs for care in both men and women. Our results seem to suggest that childhood sexual abuse in female FEP patients may be linked to a more severe form of psychosis whose presentation is characterized by earlier age of onset and higher levels of negative symptoms and we can also speculate that gender-specific protective factors in women, but not in men, may be outweighed by the consequences of childhood abuse.

7.
Artigo em Inglês | MEDLINE | ID: mdl-30520181

RESUMO

Graves' orbitopathy (GO) and pre-tibial mixedema (PTM) are autoimmune manifestation sharing the same etiology and histopathology, a chronic course and a frustrating treatment. Current management include topical and systemic corticosteroid as first line therapy, whereas cyclosporine, surgery and orbital radiotherapy are indicated for severe GO with variable results and mostly temporary remissions. In particular, keratopath and photophobia, due to exophthalmos and eyelid retraction, impaired eye mobility and diplopia due to the compression of optic nerve and extra-ocular muscles are usually minimally modified, as well as leg plaques/nodules and lymphoedema. This article is protected by copyright. All rights reserved.

8.
Sensors (Basel) ; 18(10)2018 Oct 21.
Artigo em Inglês | MEDLINE | ID: mdl-30347871

RESUMO

In this paper, the development of a nanoporous TiO2 array-modified Ti electrode for photo-electrochemical (PEC) sensing of dopamine (DA) is reported. A porous TiO2 array-modified electrode was fabricated from the controlled anodic oxidation of a Ti working electrode of commercial screen-printed electrodes (SPE). The anodization process and the related morphological and microstructural transformation of the bare Ti electrode into a TiO2/Ti electrode was followed by scanning electron microscopy (SEM) and UV-visible reflectance spectroscopy (DR-UV-Vis). The modified electrode was irradiated with a low-power (120 mW) UV-Vis LED lamp (λ = 400 nm) and showed good performance for the detection of DA with a large linear response range, a sensitivity of 462 nA mM-1 cm-2, and a limit of detection of 20 µM. Moreover, it showed higher photocurrents in the presence of DA in comparison to some foreign species such as ascorbic acid, uric acid, glucose, K⁺, Na⁺, and Cl-. Thus, this proposed low-cost photo-electrochemical sensor, with the advantage of very simple fabrication, demonstrates potential applications for the determination of dopamine in real samples.

10.
Sci Rep ; 8(1): 8053, 2018 May 23.
Artigo em Inglês | MEDLINE | ID: mdl-29795291

RESUMO

Controversy still exists regarding the role of the TGF-ß in neovascular age-related macular degeneration (nAMD), a major cause of severe visual loss in the elderly in developed countries. Here, we measured the concentrations of active TGF-ß1, TGF-ß2, and TGF-ß3 by ELISA in the aqueous humor of 20 patients affected by nAMD, who received 3 consecutive monthly intravitreal injections of anti-VEGF-A antibody. Samples were collected at baseline (before the first injection), month 1 (before the second injection), and month 2 (before the third injection). The same samples were used in a luciferase-based reporter assay to test the TGF-ß pathway activation. Active TGF-ß1 concentrations in the aqueous humor were below the minimum detectable dose. Active TGF-ß2 concentrations were significantly lower at baseline and at month 1, compared to controls. No significant differences in active TGF-ß3 concentration were found among the sample groups. Moreover, TGF-ß pathway activation was significantly lower at baseline compared to controls. Our data corroborate an anti-angiogenic role for TGF-ß2 in nAMD. This should be considered from the perspective of a therapy using TGF-ß inhibitors.

11.
Nanotechnology ; 29(30): 305501, 2018 Jul 27.
Artigo em Inglês | MEDLINE | ID: mdl-29726410

RESUMO

The availability of low-cost, high-performing sensors for carbon dioxide detection in the environment may play a crucial role for reducing CO2 emissions and limiting global warming. In this study, calcium-doped zinc oxide nanofibres with different Ca to Zn loading ratios (1:40 or 1:20) are synthesised via electro-spinning, thoroughly characterised and, for the first time, tested as an active material for the detection of carbon dioxide. The results of their characterisation show that the highly porous fibres consist of interconnected grains of oxide with the hexagonal wurtzite structure of zincite. Depending on the Ca:Zn loading ratio, calcium fully or partly segregates to form calcite on the fibre surface. The high response of the sensor based on the fibres with the highest Ca-doping level can be attributed to the synergy between the fibre morphology and the basicity of Ca-ion sites, which favour the diffusion of the gas molecules within the sensing layer and the CO2 adsorption, respectively.

12.
Am J Med Genet A ; 176(6): 1375-1388, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29696803

RESUMO

The X-chromosome comprises only about 5% of the human genome but accounts for about 15% of the genes currently known to be associated with intellectual disability. The early progress in identifying the X-linked intellectual disability (XLID)-associated genes through linkage analysis and candidate gene sequencing has been accelerated with the use of high-throughput technologies. In the 10 years since the last update, the number of genes associated with XLID has increased by 96% from 72 to 141 and duplications of all 141 XLID genes have been described, primarily through the application of high-resolution microarrays and next generation sequencing. The progress in identifying genetic and genomic alterations associated with XLID has not been matched with insights that improve the clinician's ability to form differential diagnoses, that bring into view the possibility of curative therapies for patients, or that inform scientists of the impact of the genetic alterations on cell organization and function.

13.
Sensors (Basel) ; 18(4)2018 Mar 22.
Artigo em Inglês | MEDLINE | ID: mdl-29565315

RESUMO

This review reports the latest achievements in point-of-care (POC) sensor technologies for the monitoring of ammonia, creatinine and urea in patients suffering of chronic kidney diseases (CKDs). Abnormal levels of these nitrogen biomarkers are found in the physiological fluids, such as blood, urine and sweat, of CKD patients. Delocalized at-home monitoring of CKD biomarkers via integration of miniaturized, portable, and low cost chemical- and bio-sensors in POC devices, is an emerging approach to improve patients' health monitoring and life quality. The successful monitoring of CKD biomarkers, performed on the different body fluids by means of sensors having strict requirements in term of size, cost, large-scale production capacity, response time and simple operation procedures for use in POC devices, is reported and discussed.


Assuntos
Insuficiência Renal Crônica , Biomarcadores , Técnicas Biossensoriais , Creatinina , Humanos , Monitorização Fisiológica , Sistemas Automatizados de Assistência Junto ao Leito
14.
Sci Rep ; 8(1): 694, 2018 01 12.
Artigo em Inglês | MEDLINE | ID: mdl-29330474

RESUMO

De novo FOXP1 mutations have been associated with intellectual disability (ID), motor delay, autistic features and a wide spectrum of speech difficulties. C syndrome (Opitz C trigonocephaly syndrome) is a rare and genetically heterogeneous condition, characterized by trigonocephaly, craniofacial anomalies and ID. Several different chromosome deletions and and point mutations in distinct genes have been associated with the disease in patients originally diagnosed as Opitz C. By whole exome sequencing we identified a de novo splicing mutation in FOXP1 in a patient, initially diagnosed as C syndrome, who suffers from syndromic intellectual disability with trigonocephaly. The mutation (c.1428 + 1 G > A) promotes the skipping of exon 16, a frameshift and a premature STOP codon (p.Ala450GLyfs*13), as assessed by a minigene strategy. The patient reported here shares speech difficulties, intellectual disability and autistic features with other FOXP1 syndrome patients, and thus the diagnosis for this patient should be changed. Finally, since trigonocephaly has not been previously reported in FOXP1 syndrome, it remains to be proved whether it may be associated with the FOXP1 mutation.


Assuntos
Craniossinostoses/diagnóstico , Fatores de Transcrição Forkhead/genética , Deficiência Intelectual/diagnóstico , Proteínas Repressoras/genética , Transtorno Autístico/complicações , Transtorno Autístico/diagnóstico , Craniossinostoses/genética , Éxons , Mutação da Fase de Leitura , Humanos , Deficiência Intelectual/genética , Masculino , Processamento de RNA , Distúrbios da Fala/complicações , Distúrbios da Fala/diagnóstico , Sequenciamento Completo do Exoma , Adulto Jovem
15.
Retina ; 38(9): 1770-1776, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-28723849

RESUMO

PURPOSE: To determine whether internal limiting membrane (ILM) peeling during pars plana vitrectomy for rhegmatogenous retinal detachment reduces the incidence of epiretinal membrane (ERM) formation. METHODS: In this retrospective study, preoperative, intraoperative, and postoperative data from all eyes undergoing pars plana vitrectomy for rhegmatogenous retinal detachment between January 2007 and December 2013 was analyzed. All cases with at least 1-year of follow-up were included. Data collection included vision, intraoperative complications, occurrence of ERM, and spectral domain optical coherence tomography characteristics. The OCTs were retrieved for all eyes and were graded by a single masked grader. RESULTS: Out of 159 eyes recruited, ILM peeling was done in 78 eyes (49%). Overall occurrence of ERM was 20%. Seven eyes (9%) in ILM peeling group and 25 eyes in the non-ILM peeling group (31%) showed ERM (P = 0.001). Postoperative vision was significantly better in eyes that had ILM peeling (0.48 ± 0.4 logarithm of the minimum angle of resolution [20/63] vs. 0.77 ± 0.6 logarithm of the minimum angle of resolution [20/125], P = 0.003). In multivariable models adjusting for type of tamponade, ILM peeling reduced the likelihood of ERM formation by 75% (P = 0.01). CONCLUSION: Internal limiting membrane peeling during pars plana vitrectomy for rhegmatogenous retinal detachment significantly reduces ERM formation in the postoperative period and is associated with better visual and anatomical outcomes.


Assuntos
Membrana Basal/cirurgia , Membrana Epirretiniana/prevenção & controle , Complicações Pós-Operatórias/prevenção & controle , Descolamento Retiniano/cirurgia , Tomografia de Coerência Óptica/métodos , Acuidade Visual , Vitrectomia/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Membrana Basal/patologia , Membrana Epirretiniana/epidemiologia , Seguimentos , Humanos , Incidência , Itália/epidemiologia , Pessoa de Meia-Idade , Complicações Pós-Operatórias/epidemiologia , Descolamento Retiniano/diagnóstico , Descolamento Retiniano/fisiopatologia , Estudos Retrospectivos , Resultado do Tratamento , Adulto Jovem
16.
Am J Med Genet A ; 173(12): 3216-3220, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29136354

RESUMO

We report on a patient with terminal deletion of the long arm of chromosome 14 displaying brain interhemispheric fusion limited to the midline anterior frontal cortex associated with hypoplastic corpus callosum and incomplete rotation of the left hippocampus in a clinical setting of motor and intellectual disability with poor language, and social behavior abnormalities with aggressiveness. Some possible correlations between clinical signs and symptoms and various aspects of the complex brain malformation are briefly discussed and compared with other known abnormalities of chromosome 14. The different neuropathology of the most common forms and the new forms of holoprosencephaly recently described is also discussed and leads us to suggest classifying the interhemispheric fusion of this case as a "minimal" form of holoprosencephaly. This appears to be the first description in a 14q deletion patient.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 14/genética , Holoprosencefalia/genética , Encéfalo/diagnóstico por imagem , Lobo Frontal/diagnóstico por imagem , Holoprosencefalia/classificação , Holoprosencefalia/diagnóstico por imagem , Humanos , Masculino , Neuroimagem , Adulto Jovem
17.
Nanomaterials (Basel) ; 7(12)2017 Nov 23.
Artigo em Inglês | MEDLINE | ID: mdl-29168771

RESUMO

Iron oxide nanostructures (IONs) in combination with graphene or its derivatives-e.g., graphene oxide and reduced graphene oxide-hold great promise toward engineering of efficient nanocomposites for enhancing the performance of advanced devices in many applicative fields. Due to the peculiar electrical and electrocatalytic properties displayed by composite structures in nanoscale dimensions, increasing efforts have been directed in recent years toward tailoring the properties of IONs-graphene based nanocomposites for developing more efficient electrochemical sensors. In the present feature paper, we first reviewed the various routes for synthesizing IONs-graphene nanostructures, highlighting advantages, disadvantages and the key synthesis parameters for each method. Then, a comprehensive discussion is presented in the case of application of IONs-graphene based composites in electrochemical sensors for the determination of various kinds of (bio)chemical substances.

19.
Int Psychogeriatr ; 29(7): 1105-1112, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-28412979

RESUMO

BACKGROUND: Late-life depression is often associated with cognitive impairments and disability, which may persist even after adequate antidepressant drug treatment. Physical exercise is increasingly recognized as an effective antidepressant agent, and may exert positive effects on these features too. However, few studies examined this issue, especially by comparing different types of exercises. METHODS: We performed secondary analyses on data from the Safety and Efficacy of Exercise for Depression in Seniors study, a trial comparing the antidepressant effectiveness of sertraline (S), sertraline plus thrice-weekly non-progressive exercise (S+NPE), and sertraline plus thrice-weekly progressive aerobic exercise (S+PAE). Exercise was conducted in small groups and monitored by heart rate meters. Patients with late-life depression without severe cognitive impairment were recruited from primary care and assessed at baseline and 24 weeks, using the Montreal Cognitive Assessment (MOCA, total and subdomain scores) and Brief Disability Questionnaire. Analyses were based on Generalized Linear Models. RESULTS: In total, 121 patients (mean age 75, 71% females) were randomized to the study interventions. Compared with the S group, patients in the S+PAE group displayed greater improvements of MOCA total scores (p=0.006, effect size=0.37), visuospatial/executive functions (p=0.001, effect size=0.13), and disability (p=0.02, effect size=-0.31). Participants in the S+NPE group did not display significant differences with the control group. CONCLUSIONS: Adding aerobic, progressive exercise to antidepressant drug treatment may offer significant advantages over standard treatment for cognitive abilities and disability. These findings suggest that even among older patients exercise may constitute a valid therapeutic measure to improve patients' outcomes.


Assuntos
Antidepressivos/uso terapêutico , Depressão/terapia , Terapia por Exercício/métodos , Exercício , Sertralina/uso terapêutico , Adulto , Idoso , Cognição , Avaliação da Deficiência , Função Executiva , Feminino , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Escalas de Graduação Psiquiátrica , Método Simples-Cego
20.
Sensors (Basel) ; 17(4)2017 Apr 14.
Artigo em Inglês | MEDLINE | ID: mdl-28420110

RESUMO

The contributions of Italian researchers to sensor research in 2015 is reviewed. The analysis of the activities in one year allows one to obtain a snapshot of the Italian scenario capturing the main directions of the research activities. Furthermore, the distance of more than one year makes meaningful the bibliometric analysis of the reviewed papers. The review shows a research community distributed among different scientific disciplines, from chemistry, physics, engineering, and material science, with a strong interest in collaborative works.


Assuntos
Técnicas Biossensoriais , Bibliometria , Humanos , Itália , Pesquisa , Pesquisadores
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