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1.
Int J Mol Sci ; 24(16)2023 Aug 13.
Artigo em Inglês | MEDLINE | ID: mdl-37628933

RESUMO

Vascular liver disorders (VLDs) comprise a wide spectrum of clinical-pathological entities that primarily affect the hepatic vascular system of both cirrhotic and non-cirrhotic patients. VLDs more frequently involve the portal and the hepatic veins, as well as liver sinusoids, resulting in an imbalance of liver homeostasis with serious consequences, such as the development of portal hypertension and liver fibrosis. Surprisingly, many VLDs are characterized by a prothrombotic phenotype. The molecular mechanisms that cause thrombosis in VLD are only partially explained by the alteration in the Virchow's triad (hypercoagulability, blood stasis, and endothelial damage) and nowadays their pathogenesis is incompletely described and understood. Studies about this topic have been hampered by the low incidence of VLDs in the general population and by the absence of suitable animal models. Recently, the role of coagulation imbalance in liver disease has been postulated as one of the main mechanisms linked to fibrogenesis, so a novel interest in vascular alterations of the liver has been renewed. This review provides a detailed analysis of the current knowledge of molecular mechanisms of VLD. We also focus on the promising role of anticoagulation as a strategy to prevent liver complications and to improve the outcome of these patients.


Assuntos
Hipertensão Portal , Trombose , Doenças Vasculares , Humanos , Animais , Trombose/etiologia , Cirrose Hepática
2.
J Wound Care ; 31(4): 322-328, 2022 Apr 02.
Artigo em Inglês | MEDLINE | ID: mdl-35404702

RESUMO

OBJECTIVE: To evaluate the influence of a wound healing protocol for stage III and IV pressure ulcers (PUs), and to determine the predictive power of specific sociodemographic and clinical characteristics on wound healing and infection. METHOD: This longitudinal study included participants with stage III and IV PUs who were recruited from 10 acute care settings of an Italian university hospital, and who were managed with a protocol inspired by the TIMECare model. Data were collected between October 2018 and March 2019. The National Pressure Ulcer Advisory Panel Staging System was used to stage the PUs. Wound healing was assessed with the Pressure Ulcer Scale for Healing (PUSH). Nutritional status was assessed with the Mini Nutritional Assessment Index. Data collection took place at admission and every seven days thereafter-a total of six times before discharge. The outcome and predictors of wound healing were assessed with Student's paired t-tests and multiple linear regressions, respectively. RESULTS: Patients (n=126) were almost equally split between male and female, with a mean age of 78.17 years and who were all retired. Stage III and IV PUs were most prevalent at the sacrum (65.5% and 73.2%, respectively). PUSH wound healing scores improved significantly after six weeks in both stage III and IV PUs (p<0.001). Nutritional status was predictive of wound healing (R2=0.12). CONCLUSION: Our results showed that a good nutritional status and a protocol inspired by the TIMECare model were associated with wound healing improvements in stage III and IV PUs. We recommend this protocol in older patients with stage III and IV PUs.


Assuntos
Úlcera por Pressão , Idoso , Feminino , Humanos , Estudos Longitudinais , Masculino , Estado Nutricional , Úlcera por Pressão/terapia , Supuração , Cicatrização
3.
Prof Inferm ; 73(3): 205-212, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33355781

RESUMO

INTRODUCTION: Although there are many methods to confirm vascular device tip, chest x-ray represents the recommended procedure to verify the correct positioning of a central device, but it exposes patients to x-rays, delays treatment, and permits device length to be checked post-procedure. AIM: To evaluate the efficacy of Peripherally Inserted Central Catheter positioning through an Integrated System (ultrasound-guided and electrocardiogram confirmation). METHODS: A case-control study was conducted on a randomized sample of 165 patients, requiring Peripherally Inserted Central Catheter placement for chemotherapy treatment. The case group was composed of patients with vascular device placed through the Integrated System and the control group devices' length was anthropometrically estimated. Chest radiography was performed on both groups to verify tip location. RESULTS: No cases of primary malposition related to the Integrated System were registered. The vascular devices positioned with the Integrated System were all correctly placed and in 91.8% (n=101) the intra-procedural tip location was comparable to the one identified in the x-ray. CONCLUSION: The Integrated System represented a simple and efficient method to correctly place vascular device, allowing intra-procedural tip confirmation and avoiding primary malposition. It would eliminate the need for performing chest radiography, reduce costs and time for healthcare professionals and patients.


Assuntos
Cateterismo Venoso Central , Cateterismo Periférico , Cateteres Venosos Centrais , Hematologia , Estudos de Casos e Controles , Cateteres de Demora , Humanos
4.
J Clin Nurs ; 28(7-8): 1039-1049, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30358005

RESUMO

AIMS AND OBJECTIVES: To describe and synthesise current knowledge on the maintenance and preservation of vessels in patients who need the placement of a vascular access device. INTRODUCTION: To administer drugs, blood or intravenous fluids, nurses or doctors insert a peripheral vascular access device on the arm using the traditional approach. This approach implies that devices are blindly inserted until flow is satisfactory and all possible sites have been exhausted. A proactive approach would ensure at the outset that the best device is used for each patient, eliminating repeated attempts at cannulation. DESIGN: An integrative review was conducted using data recorded until July 2017. Searches were conducted in PubMed, Cochrane Library, CINAHL and Scopus. REVIEW METHOD: A modified version of Cooper's five-stage method and the PRISMA guidelines were used to perform the integrative review. RESULTS: Nine papers were included in this review. The patients were active participants in a proactive approach to vessel health and preservation. The involvement of each healthcare professional in vessel health and preservation improves outcomes and expands the use of a proactive approach to vascular device management. Because nurses are directly involved in the use of such devices and support patients during the decision-making process, they should take the lead in the use of the proactive approach. CONCLUSION: Despite the many documented advantages of the proactive approach to preserving vessels in many settings and healthcare systems, it has not been widely tested. Future research is needed to guarantee high-quality vessel health and preservation care, thus contributing to the development and dissemination of the proactive approach. RELEVANCE TO CLINICAL PRACTICE: The proactive approach preserves vessels for future needs, improves the delivery of the treatment plan and reduces length of stay, costs, risk of infection, complications and pain perceived by patients. This approach also ensures better use of nurses' time and vascular access device material.


Assuntos
Vasos Sanguíneos , Cateterismo Periférico/enfermagem , Dispositivos de Acesso Vascular , Cateterismo Periférico/normas , Tomada de Decisão Clínica , Humanos
5.
PLoS Genet ; 10(7): e1004508, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-25078964

RESUMO

The phenotypic effect of some single nucleotide polymorphisms (SNPs) depends on their parental origin. We present a novel approach to detect parent-of-origin effects (POEs) in genome-wide genotype data of unrelated individuals. The method exploits increased phenotypic variance in the heterozygous genotype group relative to the homozygous groups. We applied the method to >56,000 unrelated individuals to search for POEs influencing body mass index (BMI). Six lead SNPs were carried forward for replication in five family-based studies (of ∼4,000 trios). Two SNPs replicated: the paternal rs2471083-C allele (located near the imprinted KCNK9 gene) and the paternal rs3091869-T allele (located near the SLC2A10 gene) increased BMI equally (beta = 0.11 (SD), P<0.0027) compared to the respective maternal alleles. Real-time PCR experiments of lymphoblastoid cell lines from the CEPH families showed that expression of both genes was dependent on parental origin of the SNPs alleles (P<0.01). Our scheme opens new opportunities to exploit GWAS data of unrelated individuals to identify POEs and demonstrates that they play an important role in adult obesity.


Assuntos
Proteínas Facilitadoras de Transporte de Glucose/genética , Obesidade/genética , Polimorfismo de Nucleotídeo Único/genética , Canais de Potássio de Domínios Poros em Tandem/genética , Adulto , Índice de Massa Corporal , Feminino , Regulação da Expressão Gênica , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Impressão Genômica , Genótipo , Humanos , Masculino , Obesidade/patologia , População Branca/genética
6.
Proc Natl Acad Sci U S A ; 110(40): 16139-44, 2013 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-24043777

RESUMO

We performed whole genome sequencing in 16 unrelated patients with autosomal recessive retinitis pigmentosa (ARRP), a disease characterized by progressive retinal degeneration and caused by mutations in over 50 genes, in search of pathogenic DNA variants. Eight patients were from North America, whereas eight were Japanese, a population for which ARRP seems to have different genetic drivers. Using a specific workflow, we assessed both the coding and noncoding regions of the human genome, including the evaluation of highly polymorphic SNPs, structural and copy number variations, as well as 69 control genomes sequenced by the same procedures. We detected homozygous or compound heterozygous mutations in 7 genes associated with ARRP (USH2A, RDH12, CNGB1, EYS, PDE6B, DFNB31, and CERKL) in eight patients, three Japanese and five Americans. Fourteen of the 16 mutant alleles identified were previously unknown. Among these, there was a 2.3-kb deletion in USH2A and an inverted duplication of ~446 kb in EYS, which would have likely escaped conventional screening techniques or exome sequencing. Moreover, in another Japanese patient, we identified a homozygous frameshift (p.L206fs), absent in more than 2,500 chromosomes from ethnically matched controls, in the ciliary gene NEK2, encoding a serine/threonine-protein kinase. Inactivation of this gene in zebrafish induced retinal photoreceptor defects that were rescued by human NEK2 mRNA. In addition to identifying a previously undescribed ARRP gene, our study highlights the importance of rare structural DNA variations in Mendelian diseases and advocates the need for screening approaches that transcend the analysis of the coding sequences of the human genome.


Assuntos
Rearranjo Gênico/genética , Genoma Humano/genética , Proteínas Serina-Treonina Quinases/genética , Retinose Pigmentar/genética , Animais , Sequência de Bases , Mutação da Fase de Leitura/genética , Genética Médica , Estudo de Associação Genômica Ampla , Humanos , Japão , Dados de Sequência Molecular , Quinases Relacionadas a NIMA , Análise de Sequência de DNA , Estados Unidos , Peixe-Zebra
7.
Prof Inferm ; 69(4): 214-224, 2016.
Artigo em Italiano | MEDLINE | ID: mdl-28252905

RESUMO

AIM: To evaluate wound care management in Rome's Hospital. METHOD: Observational study, divided into phases, through the analysis of 301 nursing records of patients either admitted to the hospital with ulcer pressure at the admission or grown later. Among the nursing records, 151 have been analyzed directly in the wards and 150 are referred to the triennium 2010-2012 and have been traced in a computerized version. RESULTS: The nursing records concerning the ulcer pressure is completed in 4% average. The Push Tool and Braden scale are respectively present in 6% and 86% of the nursing records analyzed. The treatment are correct in the 80% of the cases. The clinic outcome is stable in 68% of the cases and in the 13% is registered an enhancement. CONCLUSIONS: The study underlined an increase of the nursing documentation, although not completed caused by the absence of the Push Tool scale. It has been registered an enhancement of the clinic outcome in the five years and a better pertinence in the treatment of the ulcers pressure. However is evident the necessity of increasing education courses on the ulcers pressure.


Assuntos
Avaliação em Enfermagem , Registros de Enfermagem , Úlcera por Pressão/enfermagem , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Hospitais , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Registros de Enfermagem/estatística & dados numéricos , Úlcera por Pressão/epidemiologia , Prevalência , Estudos Prospectivos , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Cidade de Roma/epidemiologia , Resultado do Tratamento
8.
Hum Mutat ; 36(6): 599-610, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25703721

RESUMO

NR2E3 encodes the photoreceptor-specific nuclear hormone receptor that acts as a repressor of cone-specific gene expression in rod photoreceptors, and as an activator of several rod-specific genes. Recessive variants located in the ligand-binding domain (LBD) of NR2E3 cause enhanced short wavelength sensitive- (S-) cone syndrome (ESCS), a retinal degeneration characterized by an excess of S-cones and non-functional rods. We analyzed the dimerization properties of NR2E3 and the effect of disease-causing LBD missense variants by bioluminescence resonance energy transfer (BRET(2) ) protein interaction assays. Homodimerization was not affected in presence of p.A256V, p.R039G, p.R311Q, and p.R334G variants, but abolished in presence of p.L263P, p.L336P, p.L353V, p.R385P, and p.M407K variants. Homology modeling predicted structural changes induced by NR2E3 LBD variants. NR2E3 LBD variants did not affect interaction with CRX, but with NRL and rev-erbα/NR1D1. CRX and NRL heterodimerized more efficiently together, than did either with NR2E3. NR2E3 did not heterodimerize with TLX/NR2E1 and RXRα/NR2C1. The identification of a new compound heterozygous patient with detectable rod function, who expressed solely the p.A256V variant protein, suggests a correlation between LBD variants able to form functional NR2E3 dimers and atypical mild forms of ESCS with residual rod function.


Assuntos
Oftalmopatias Hereditárias/genética , Receptores Nucleares Órfãos/química , Receptores Nucleares Órfãos/genética , Domínios e Motivos de Interação entre Proteínas/genética , Multimerização Proteica , Degeneração Retiniana/genética , Transtornos da Visão/genética , Adolescente , Fatores de Transcrição de Zíper de Leucina Básica/metabolismo , Linhagem Celular , Análise Mutacional de DNA , Oftalmopatias Hereditárias/diagnóstico , Proteínas do Olho/metabolismo , Angiofluoresceinografia , Proteínas de Homeodomínio/metabolismo , Humanos , Ligantes , Masculino , Modelos Moleculares , Mutação , Linhagem , Ligação Proteica , Conformação Proteica , Retina/metabolismo , Degeneração Retiniana/diagnóstico , Tomografia de Coerência Óptica , Transativadores/metabolismo , Fatores de Transcrição/metabolismo , Transtornos da Visão/diagnóstico
9.
Hum Mol Genet ; 22(20): 4224-32, 2013 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-23777631

RESUMO

Charcot-Marie-Tooth disease (CMT) comprises a clinically and genetically heterogeneous group of peripheral neuropathies characterized by progressive distal muscle weakness and atrophy, foot deformities and distal sensory loss. Following the analysis of two consanguineous families affected by a medium to late-onset recessive form of intermediate CMT, we identified overlapping regions of homozygosity on chromosome 1p36 with a combined maximum LOD score of 5.4. Molecular investigation of the genes from this region allowed identification of two homozygous mutations in PLEKHG5 that produce premature stop codons and are predicted to result in functional null alleles. Analysis of Plekhg5 in the mouse revealed that this gene is expressed in neurons and glial cells of the peripheral nervous system, and that knockout mice display reduced nerve conduction velocities that are comparable with those of affected individuals from both families. Interestingly, a homozygous PLEKHG5 missense mutation was previously reported in a recessive form of severe childhood onset lower motor neuron disease (LMND) leading to loss of the ability to walk and need for respiratory assistance. Together, these observations indicate that different mutations in PLEKHG5 lead to clinically diverse outcomes (intermediate CMT or LMND) affecting the function of neurons and glial cells.


Assuntos
Doença de Charcot-Marie-Tooth/genética , Genes Recessivos , Fatores de Troca do Nucleotídeo Guanina/deficiência , Fatores de Troca do Nucleotídeo Guanina/genética , Adulto , Idade de Início , Animais , Criança , Cromossomos Humanos Par 1/genética , Códon sem Sentido , Feminino , Fatores de Troca do Nucleotídeo Guanina/metabolismo , Humanos , Masculino , Camundongos , Camundongos Knockout , Pessoa de Meia-Idade , Doença dos Neurônios Motores/genética , Mutação de Sentido Incorreto , Neuroglia/metabolismo , Neuroglia/fisiologia , Neurônios/metabolismo , Adulto Jovem
10.
Genet Med ; 17(4): 285-90, 2015 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-25255364

RESUMO

PURPOSE: Retinitis pigmentosa is a Mendelian disease with a very elevated genetic heterogeneity. Most mutations are responsible for less than 1% of cases, making molecular diagnosis a multigene screening procedure. In this study, we assessed whether direct testing of specific alleles could be a valuable screening approach in cases characterized by prevalent founder mutations. METHODS: We screened 275 North American patients with recessive/isolate retinitis pigmentosa for two mutations: an Alu insertion in the MAK gene and the p.Lys42Glu missense in the DHDDS gene. All patients were unrelated; 35 reported Jewish ancestry and the remainder reported mixed ethnicity. RESULTS: We identified the MAK and DHDDS mutations homozygously in only 2.1% and 0.8%, respectively, of patients of mixed ethnicity, but in 25.7% and 8.6%, respectively, of cases reporting Jewish ancestry. Haplotype analyses revealed that inheritance of the MAK mutation was attributable to a founder effect. CONCLUSION: In contrast to most mutations associated with retinitis pigmentosa-which are, in general, extremely rare-the two alleles investigated here cause disease in approximately one-third of North American patients reporting Jewish ancestry. Therefore, their screening constitutes an alternative procedure to large-scale tests for patients belonging to this ethnic group, especially in time-sensitive situations.


Assuntos
Alquil e Aril Transferases/genética , Mutação de Sentido Incorreto , Proteínas Serina-Treonina Quinases/genética , Retinose Pigmentar/genética , Alelos , Elementos Alu/genética , Sequência de Aminoácidos , Éxons , Genes Recessivos , Haplótipos , Homozigoto , Humanos , Judeus , América do Norte , Retinose Pigmentar/patologia , Estados Unidos
11.
PLoS Genet ; 8(11): e1003040, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23144630

RESUMO

Heterozygous mutations in the PRPF31 gene cause autosomal dominant retinitis pigmentosa (adRP), a hereditary disorder leading to progressive blindness. In some cases, such mutations display incomplete penetrance, implying that certain carriers develop retinal degeneration while others have no symptoms at all. Asymptomatic carriers are protected from the disease by a higher than average expression of the PRPF31 allele that is not mutated, mainly through the action of an unknown modifier gene mapping to chromosome 19q13.4. We investigated a large family with adRP segregating an 11-bp deletion in PRPF31. The analysis of cell lines derived from asymptomatic and affected individuals revealed that the expression of only one gene among a number of candidates within the 19q13.4 interval significantly correlated with that of PRPF31, both at the mRNA and protein levels, and according to an inverse relationship. This gene was CNOT3, encoding a subunit of the Ccr4-not transcription complex. In cultured cells, siRNA-mediated silencing of CNOT3 provoked an increase in PRPF31 expression, confirming a repressive nature of CNOT3 on PRPF31. Furthermore, chromatin immunoprecipitation revealed that CNOT3 directly binds to a specific PRPF31 promoter sequence, while next-generation sequencing of the CNOT3 genomic region indicated that its variable expression is associated with a common intronic SNP. In conclusion, we identify CNOT3 as the main modifier gene determining penetrance of PRPF31 mutations, via a mechanism of transcriptional repression. In asymptomatic carriers CNOT3 is expressed at low levels, allowing higher amounts of wild-type PRPF31 transcripts to be produced and preventing manifestation of retinal degeneration.


Assuntos
Proteínas do Olho/genética , Penetrância , Retinose Pigmentar , Fatores de Transcrição/genética , Proteínas do Olho/metabolismo , Regulação da Expressão Gênica , Heterozigoto , Humanos , Polimorfismo de Nucleotídeo Único , Regiões Promotoras Genéticas , RNA Interferente Pequeno , Retinose Pigmentar/genética , Retinose Pigmentar/metabolismo , Deleção de Sequência , Fatores de Transcrição/metabolismo
12.
Ann Hum Genet ; 78(1): 62-71, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24116917

RESUMO

Mutations in PRPF31 are responsible for autosomal dominant retinitis pigmentosa (adRP, RP11 form) and affected families show nonpenetrance. Differential expression of the wildtype PRPF31 allele is responsible for this phenomenon: coinheritance of a mutation and a higher expressing wildtype allele provide protection against development of disease. It has been suggested that a major modulating factor lies in close proximity to the wildtype PRPF31 gene on Chromosome 19, implying that a cis-acting factor directly alters PRPF31 expression. Variable expression of CNOT3 is one determinant of PRPF31 expression. This study explored the relationship between CNOT3 (a trans-acting factor) and its paradoxical cis-acting nature in relation to RP11. Linkage analysis on Chromosome 19 was performed in mutation-carrying families, and the inheritance of the wildtype PRPF31 allele in symptomatic-asymptomatic sibships was assessed-confirming that differential inheritance of wildtype chromosome 19q13 determines the clinical phenotype (P < 2.6 × 10(-7) ). A theoretical model was constructed that explains the apparent conflict between the linkage data and the recent demonstration that a trans-acting factor (CNOT3) is a major nonpenetrance factor: we propose that this apparently cis-acting effect arises due to the intimate linkage of CNOT3 and PRPF31 on Chromosome 19q13-a novel mechanism that we have termed "linked trans-acting epistasis."


Assuntos
Epistasia Genética , Proteínas do Olho/genética , Genes Recessivos , Polimorfismo Genético , Retinose Pigmentar/genética , Fatores de Transcrição/genética , Alelos , Cromossomos Humanos Par 19/genética , Biologia Computacional , Proteínas do Olho/metabolismo , Feminino , Genes Dominantes , Ligação Genética , Loci Gênicos , Heterozigoto , Humanos , Masculino , Repetições de Microssatélites , Mutação , Linhagem , Pneumonia Aspirativa/genética , Fatores de Transcrição/metabolismo
13.
Lab Chip ; 23(4): 793-802, 2023 02 14.
Artigo em Inglês | MEDLINE | ID: mdl-36727452

RESUMO

High blood pressure is the primary risk factor for heart disease, the leading cause of death globally. Despite this, current methods to replicate physiological pressures in vitro remain limited in sophistication and throughput. Single-chamber exposure systems allow for only one pressure condition to be studied at a time and the application of dynamic pressure waveforms is currently limited to simple sine, triangular, or square waves. Here, we introduce a high-throughput hydrostatic pressure exposure system for 96-well plates. The platform can deliver a fully-customizable pressure waveform to each column of the plate, for a total of 12 simultaneous conditions. Using clinical waveform data, we are able to replicate real patients' blood pressures as well as other medically-relevant pressures within the body and have assembled a small patient-derived waveform library of some key physiological locations. As a proof of concept, human umbilical vein endothelial cells (HUVECs) survived and proliferated for 3 days under a wide range of static and dynamic physiologic pressures ranging from 10 mm Hg to 400 mm Hg. Interestingly, pathologic and supraphysiologic pressure exposures did not inhibit cell proliferation. By integrating with, rather than replacing, ubiquitous lab cultureware it is our hope that this device will facilitate the incorporation of hydrostatic pressure into standard cell culture practice.


Assuntos
Técnicas de Cultura de Células , Impressão Tridimensional , Humanos , Pressão Hidrostática , Células Endoteliais da Veia Umbilical Humana , Proliferação de Células
14.
Ophthalmology ; 119(4): 857-64, 2012 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-22281088

RESUMO

PURPOSE: To report the first case of choroidal schwannoma in a patient affected by PTEN hamartoma tumor syndrome (PHTS) and investigate the molecular involvement of the phosphatase and tensin homolog (PTEN) and neurofibromin 2 (NF2) genes in this rare intraocular tumor. DESIGN: Observational case report. PARTICIPANT: A 10-year-old girl diagnosed with PHTS. METHODS: The enucleated specimen underwent histologic, immunohistochemical, and transmission electronic microscopy. The expression of PTEN and NF2 and their protein products were evaluated by reverse transcription-polymerase chain reaction and immunohistochemistry. Somatic mutations of PTEN and NF2, as well as allelic loss, were investigated by direct sequencing of DNA extracted from the tumor. PTEN epigenetic silencing was investigated by pyrosequencing. MAIN OUTCOME MEASURES: Histopathologic and molecular characterization of a choroidal pigmented schwannoma. RESULTS: Histopathologic, immunohistochemical, and electron microscopic analysis demonstrated features consistent with a pigmented cellular schwannoma of the choroid. We found no loss of heterozygosity at the genomic level for the PTEN germline mutation and no promoter hypermethylation or other somatic intragenic mutations. However, we observed an approximate 40% reduction of PTEN expression at both the mRNA and the protein level, indicating that the tumor was nonetheless functionally deficient for PTEN. Although DNA sequencing of NF2 failed to identify any pathologic variants, its expression was abolished within the tumor. CONCLUSIONS: We report the first description of a pigmented choroidal schwannoma in the context of a PHTS. This rare tumor showed a unique combination of reduction of PTEN and absence of NF2 expression.


Assuntos
Neoplasias da Coroide/genética , Síndrome do Hamartoma Múltiplo/genética , Neurilemoma/genética , Neurofibromina 2/genética , PTEN Fosfo-Hidrolase/genética , Criança , Neoplasias da Coroide/diagnóstico por imagem , Neoplasias da Coroide/patologia , Metilação de DNA , Análise Mutacional de DNA , DNA de Neoplasias/genética , Enucleação Ocular , Feminino , Síndrome do Hamartoma Múltiplo/diagnóstico por imagem , Síndrome do Hamartoma Múltiplo/patologia , Humanos , Imuno-Histoquímica , Neurilemoma/diagnóstico por imagem , Neurilemoma/patologia , RNA Mensageiro/genética , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Ultrassonografia , Acuidade Visual
15.
Sci Rep ; 11(1): 19032, 2021 09 24.
Artigo em Inglês | MEDLINE | ID: mdl-34561487

RESUMO

The photoreceptor-specific nuclear receptor Nr2e3 is not expressed in Nr2e3rd7/rd7 mice, a mouse model of the recessively inherited retinal degeneration enhanced S-cone sensitivity syndrome (ESCS). We characterized in detail C57BL/6J Nr2e3rd7/rd7 mice in vivo by fundus photography, optical coherence tomography and fluorescein angiography and, post mortem, by histology and immunohistochemistry. White retinal spots and so-called 'rosettes' first appear at postnatal day (P) 12 in the dorsal retina and reach maximal expansion at P21. The highest density in 'rosettes' is observed within a region located between 100 and 350 µM from the optic nerve head. 'Rosettes' disappear between 9 to 12 months. Non-apoptotic cell death markers are detected during the slow photoreceptor degeneration, at a rate of an approximately 3% reduction of outer nuclear layer thickness per month, as observed from 7 to 31 months of age. In vivo analysis of Nr2e3rd7/rd7 Cx3cr1gfp/+ retinas identified microglial cells within 'rosettes' from P21 on. Subretinal macrophages were observed in vivo and by confocal microscopy earliest in 12-months-old Nr2e3rd7/rd7 retinas. At P21, S-opsin expression and the number of S-opsin expressing dorsal cones was increased. The dorso-ventral M-cone gradient was present in Nr2e3rd7/rd7 retinas, but M-opsin expression and M-opsin expressing cones were decreased. Retinal vasculature was normal.


Assuntos
Oftalmopatias Hereditárias/genética , Oftalmopatias Hereditárias/patologia , Receptores Nucleares Órfãos/genética , Células Fotorreceptoras Retinianas Cones/metabolismo , Degeneração Retiniana/genética , Degeneração Retiniana/patologia , Transtornos da Visão/genética , Transtornos da Visão/patologia , Animais , Modelos Animais de Doenças , Progressão da Doença , Expressão Gênica , Camundongos Endogâmicos C57BL , Camundongos Transgênicos , Opsinas/genética , Opsinas/metabolismo , Células Fotorreceptoras Retinianas Cones/patologia
16.
Int Urogynecol J ; 21(7): 873-83, 2010 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-20179905

RESUMO

INTRODUCTION AND HYPOTHESIS: The purpose of this study is to assess the incidence of female urinary incontinence (UI), risk factors, severity, and functional limitation using a cross-sectional survey in an Italian region. METHODS: The method employed in this study was a questionnaire-based interview on non-institutionalized women. Outcomes were the UI prevalence, severity, associated factors, and functional limitation (ICIQ score). RESULTS: From October 2008 to February 2009, 1,346 women were interviewed and 15.3% were affected by UI. Univariate analysis found different risk factors, but multivariate analysis revealed only pelvic floor surgery, diabetes, vaginal deliveries, age, and educational level as significant. The involuntary loss of stools was more common in incontinent patients compared with healthy participants. The ICIQ values were significantly different between healthy and incontinent participants and a positive correlation existed with the estimated daily urine loss (r = 0.885, p < 0.001). CONCLUSIONS: Symptoms of UI affected a substantial proportion of the population investigated. Pelvic floor surgery, diabetes, and vaginal deliveries are the most significant risk factors implicated.


Assuntos
Incontinência Urinária/epidemiologia , Adulto , Estudos Transversais , Feminino , Humanos , Itália/epidemiologia , Pessoa de Meia-Idade , Análise Multivariada , Prevalência , Fatores de Risco
17.
Prof Inferm ; 63(4): 205-10, 2010.
Artigo em Italiano | MEDLINE | ID: mdl-21266129

RESUMO

Literature reports several definitions of outcomes sensitive to nursing care. Van Der Bruggen and Groen defined nursing outcomes as observable and measurable aspects in individuals, groups and population that should be objective for clinicians and researchers and subjective for patients and families. Johnson and Maas defined nursing outcomes as variable behaviors or perceptions of family or caregiver after the caring intervention. According to the International Classification for Nursing Practice (ICNP), nursing outcomes are the status of a nursing diagnosis after the intervention. In the IowaOutcome Project, where Nursing Outcomes Classification (NOC) system has been elaborated, nursing outcome is a measurable condition, behavior or perception of the person or family conceptualized as sensitive variable to nursing care. Outcomes of NOC system are focused on individuals, families and community and refers to status, behavior or perceptions. Elements to be considered in nursing outcome definition are four: specific aspects of nursing care, the illness, general aspects of care, patient typology. It is important to identify which system for nursing evaluation outcomes are more suitable for Italy, where the field of action of nurses has faded edge with functions that mix and confuse with other professionals. Studies on the application of NOC taxonomy in Italy could be a starting point for defining and adapting an outcome evaluation system that will allow the objective visibility that nursing care gives to the global improvement of the cared person.


Assuntos
Cuidados de Enfermagem/normas , Enfermagem/normas , Avaliação de Resultados em Cuidados de Saúde/métodos
18.
Prof Inferm ; 63(1): 27-37, 2010.
Artigo em Italiano | MEDLINE | ID: mdl-20470457

RESUMO

INTRODUCTION: Instruments that measure job well-being have the aim to evaluate consequences as individual health due to job unsatisfaction but not nurse perception about organizational health. The aim of this study was to assess the psychometric characteristics of the Nursing Organizational Health Questionnaire (MOHQ), an instrument derived from the Multidimensional Organizational Health Questionnaire (MOHQ) that measures nursing organizational health. METHODS: The MOHQ underwent to content validity by a group of experts that modified and added new items of the MHQ. Afterward the MOHQ was administered to a sample of 1279 nurses working in several contexts in Lazio and Umbria regions. Dimensionality of each scale of MOHQ, and concurrent validity of the new items were investigated using Exploratory Factor Analysis approach. Therefore Cronbach's alpha was computed for each dimensions of each scale to examine internal consistency. RESULTS: Statistical analysis confirmed the factor structure of each scale and the reliability of the emerged dimensions. Moreover analyses have shown the importance of the new items to investigate specific dimension related to the nurse organizational context. DISCUSSION: The present study showed that the MOHQ has good psychometric properties of validity and reliability and can be used to study organizational health in nursing population.


Assuntos
Enfermagem , Saúde Ocupacional , Inquéritos e Questionários/normas , Adulto , Humanos , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Adulto Jovem
19.
Prof Inferm ; 62(1): 32-40, 2009.
Artigo em Italiano | MEDLINE | ID: mdl-19356327

RESUMO

Introduction. The evolution of nursing profession in Italy and the modification of university currilula have stimulated the adoption of new didactic methods according to the new educational needs. In the present study the developement of tools and methods for evaluating and measuring clinical competences of undergraduate nursing students at Tor Vergata University of Rome are presented. These methods and tools have been developed by all professionals involved in nursing education.Methods. The new didactic methods have been implemented from the Academic Year 2006/2007. The developed methods and tools have been: the educational web site, the objectives and plans of clinical training for each year of course, the coordinators of clinical activities, the training diary and task, and the in-progress and final evaluation per each year.Results and Discussion. After the two-year experimentation, the distributed training diaries have been 185; all the training tasks with a positive outcome have been 637; students who passed the exam with the new methods and tools have been 294. Conclusion. The preliminary results of the present study do not allow yet to demonstrate all the competencies acquired by the students (this will be possible after November 2009), but show that they more adhere to the clinical education. In addition, the new educational methods and tools implemented in this study demonstrate as the students progress in nursing education.


Assuntos
Competência Clínica , Bacharelado em Enfermagem/métodos , Estudantes de Enfermagem , Ensino/métodos , Certificação , Currículo , Avaliação Educacional , Humanos , Internet , Relações Enfermeiro-Paciente , Diagnóstico de Enfermagem , Cidade de Roma , Programas de Autoavaliação
20.
Ig Sanita Pubbl ; 65(3): 241-52, 2009.
Artigo em Italiano | MEDLINE | ID: mdl-19629150

RESUMO

The aim of this study was to map existing ambulatory care nursing sites in Italy, compare operational and organizational methodologies used, and evaluate visibility of the sites in health institutions and the community. Nurses' level of satisfaction with this work experience was also evaluated. The American Academy of Ambulatory Care Nursing and American Nurses Association definition of ambulatory care nursing (1997) was used to select sites for the study. Two hundred fifty ambulatory care sites meeting this definition were listed, most of which provide clinical and educational services to oncology and cardiology patients. Surgical sites provide treatment of surgical wounds and stomas. Results of the study show that ambulatory care nursing sites are not uniformly distributed across Italy and a greater concentration of sites can be found in northern Italy with respect to central and southern Italy. Nurses report having greater professional autonomy and an excellent level of satisfaction. All interviewed nurses attend specific training and continuing education courses. Ambulatory care sites are managed by nurses; medical consultations are requested when necessary and home assistance is assured through coordination with general practitioners.


Assuntos
Assistência Ambulatorial , Cuidados de Enfermagem , Assistência Ambulatorial/organização & administração , Medicina de Família e Comunidade , Instalações de Saúde , Humanos , Entrevistas como Assunto , Itália , Satisfação no Emprego , Cuidados de Enfermagem/organização & administração , Relações Médico-Enfermeiro , Projetos Piloto , Autonomia Profissional , Inquéritos e Questionários
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