RESUMO
The corneal limbus is a privileged region on the border between two quite different microenvironments, where corneal epithelial stem cells, numerous melanocytes, and antigen-presenting cells are all concentrated within a richly vascularized and innervated stroma. This situation within the ocular surface confers on it the key functions of barrier, epithelial renewal and defense of the cornea. As an immunological crossroads and since the corneoscleral limbus is directly exposed to external insults such as caustic agents, ultraviolet radiation, microbial agents, and allergens, it is the potential site of many tumoral, degenerative or inflammatory pathologies and may progress under certain conditions to limbal stem cell deficiency.
Assuntos
Doenças da Córnea/patologia , Limbo da Córnea/anatomia & histologia , Limbo da Córnea/patologia , Córnea/anatomia & histologia , Córnea/diagnóstico por imagem , Córnea/patologia , Doenças da Córnea/diagnóstico , Doenças da Córnea/epidemiologia , Epitélio Corneano/anatomia & histologia , Epitélio Corneano/diagnóstico por imagem , Epitélio Corneano/patologia , Infecções Oculares/diagnóstico , Infecções Oculares/patologia , Neoplasias Oculares/diagnóstico , Neoplasias Oculares/patologia , Humanos , Doenças do Sistema Imunitário/diagnóstico , Doenças do Sistema Imunitário/patologia , Limbo da Córnea/diagnóstico por imagem , Células-Tronco/patologiaRESUMO
The corneal limbus is a privileged region on the border between two quite different microenvironments, where corneal epithelial stem cells, numerous melanocytes, and antigen-presenting cells are all concentrated within a richly vascularized and innervated stroma. This situation within the ocular surface confers on it the key functions of barrier, epithelial renewal and defense of the cornea. As an immunological crossroads and since the corneoscleral limbus is directly exposed to external insults such as caustic agents, ultraviolet radiation, microbial agents, and allergens, it is the potential site of many tumoral, degenerative or inflammatory pathologies and may progress under certain conditions to limbal stem cell deficiency.
Assuntos
Limbo da Córnea/anatomia & histologia , Limbo da Córnea/patologia , Carcinogênese/patologia , Túnica Conjuntiva/diagnóstico por imagem , Túnica Conjuntiva/patologia , Córnea/anatomia & histologia , Córnea/patologia , Doenças da Córnea/diagnóstico , Doenças da Córnea/patologia , Epitélio Corneano/anatomia & histologia , Epitélio Corneano/diagnóstico por imagem , Epitélio Corneano/patologia , Neoplasias Oculares/diagnóstico , Neoplasias Oculares/patologia , Humanos , Limbo da Córnea/diagnóstico por imagem , Células-Tronco/citologia , Células-Tronco/patologiaRESUMO
Epigenetics refers to all the changes in phenotype and gene expression which are not due to alterations in the DNA sequence. These mechanisms have a pivotal role not only in the development but also in the maintenance during adulthood of a physiological phenotype of the heart. Because of the crucial role of epigenetic modifications, their alteration can lead to the arise of pathological conditions. Heart failure affects an estimated 23 million people worldwide and leads to substantial numbers of hospitalizations and health care costs: ischemic heart disease, hypertension, rheumatic fever and other valve diseases, cardiomyopathy, cardiopulmonary disease, congenital heart disease and other factors may all lead to heart failure, either alone or in concert with other risk factors. Epigenetic alterations have recently been included among these risk factors as they can affect gene expression in response to external stimuli. In this review, we provide an overview of all the major classes of chromatin remodellers, providing examples of how their disregulation in the adult heart alters specific gene programs with subsequent development of major cardiomyopathies. Understanding the functional significance of the different epigenetic marks as points of genetic control may be useful for developing promising future therapeutic tools.
RESUMO
BACKGROUND: To report the use of intrastromal voriconazole injections combined with corneal debridement to treat deep recalcitrant fungal keratitis. HISTORY AND SIGNS: Three patients (2 female and 1 male) with culture proven fungal keratitis (1 Fusarium, 1 Candida, 1 Pseudallescheria boydii) were included in this study. The patients were treated with repeated intrastromal voriconazole (100 mg/1 ml) in combination with corneal debridement. THERAPY AND OUTCOME: The mean age of the patients was 65 years. The mean number of injections was 5. The patients were injected every 2-3 days. This technique required repeated corneal debridement to achieve complete resolution in these three cases. CONCLUSIONS: Repeated intrastromal injection of voriconazole in combination with corneal debridement appears to be an effective and safe way to treat recalcitrant fungal keratitis, even in Fusarium keratitis.
Assuntos
Antifúngicos/administração & dosagem , Córnea/cirurgia , Desbridamento/métodos , Infecções Oculares Fúngicas/terapia , Ceratite/terapia , Voriconazol/administração & dosagem , Idoso , Terapia Combinada , Esquema de Medicação , Infecções Oculares Fúngicas/diagnóstico , Feminino , Humanos , Injeções Intraoculares , Ceratite/diagnóstico , Masculino , Pessoa de Meia-Idade , Resultado do TratamentoRESUMO
OBJECTIVE: The aim of this study was to evaluate the metabolic effects of fatty pancreas (nonalcoholic fatty pancreas disease - NAFPD) in a group of obese paediatric patients with nonalcoholic fatty liver disease (NAFLD). METHODS: We included 121 consecutive children with echographic evidence of hepatic steatosis. All patients underwent to abdominal ultrasound to evaluate pancreatic echogenic pattern. We divided the patients into two groups on the basis of the presence of fatty pancreas. In all patients liver function tests, lipid and gluco-insulinemic profile were evaluated. A selected subset of patients (67) underwent to liver biopsy. RESULTS: Of these 121 patients, 58 showed NAFPD and 63 patients exhibited a normal pancreatic echogenic pattern. No differences were found in age, transaminases serum levels, lipid profile and pancreatic enzymes between the two groups. The patients with NAFPD had a significantly higher z-BMI, fasting insulin, insulin resistance (HOMA-IR) and lower ISI respect to the group without fatty pancreas. The patients with fatty pancreas showed a more advanced form of liver disease, with higher values of fibrosis, ballooning and NAS score with respect to the group without NAFPD. CONCLUSIONS: Our study demonstrated that NAFPD is a frequent condition in obese paediatric patients affected by NAFLD. Our data suggest that pancreatic fat should not be considered an inert accumulation of fat, but as an additional factor able to affect glucose metabolism and severity of liver disease, increasing the risk of develop metabolic syndrome.
Assuntos
Hepatopatia Gordurosa não Alcoólica/epidemiologia , Pancreatopatias/epidemiologia , Adiposidade , Adolescente , Antropometria , Biópsia , Citocinas/sangue , Feminino , Humanos , Itália/epidemiologia , Fígado/patologia , Masculino , Síndrome Metabólica/complicações , Hepatopatia Gordurosa não Alcoólica/sangue , Hepatopatia Gordurosa não Alcoólica/complicações , Hepatopatia Gordurosa não Alcoólica/diagnóstico , Pancreatopatias/sangue , Pancreatopatias/diagnóstico , Pancreatopatias/etiologiaRESUMO
We report a case of a 2,5 years old female, referred to our center for pancreatitis. Medical investigation revealed history of acute recurrent pancreatitis (ARP) since 1 year of age. Family history was negative for pancreatitis. Abdominal ultrasonography and magnetic resonance excluded both biliary tract stenosis and anatomic abnormalities. Calcium metabolic disorders, viral and bacterial infections were ruled out. Molecular sequencing of CFTR revealed heterozygosis for the mutation S1235R, a CFTR-related disorders associated mutation. Fecal elastase-1 (E1) was 529 µg/gr feces (normal value 200-500 µg/gr feces). No mutation of PRSS1 gene was detected but heterozygosity for p.Lys41Asn (c.123G>C), a new mutation of SPINK1 gene, was revealed. We speculate that the association of both SPINK1 and CFTR gene mutations may be responsible of ARP in our patient. Further studies need to better elucidate the role of genetic factors in ARP, as well as the influence of environmental factors.
Assuntos
Proteínas de Transporte/genética , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Mutação , Pancreatite/genética , Doença Aguda , Pré-Escolar , Feminino , Humanos , Recidiva , Inibidor da Tripsina Pancreática de KazalRESUMO
BACKGROUND: To evaluate outcomes after optimized laser in situ keratomileusis (LASIK) for astigmatism correction with flap created by a mechanical microkeratome or a femtosecond laser. PATIENTS AND METHODS: In this retrospective study, a total of 102 eyes of 71 consecutive patients were enrolled undergoing optimized LASIK treatments using the Allegretto laser system (WaveLight Laser Technologie AG, Erlangen, Germany). A mechanical microkeratome for flap creation was used (One Use, Moria®) in 46 eyes (31 patients, spherical equivalent [SE] -4.44 D ± 2.4) and a femtosecond laser was used (LDV, Ziemer®) in 56 eyes (40 patients, spherical equivalent [SE] -3.07 D ± 3.3). The two groups were matched for inclusion criteria and were operated under similar conditions by the same surgeon. RESULTS: Overall, the preoperative spherical equivalent was -9.5 diopters (D) to +3.37 D; the preoperative manifest astigmatism was between -1.5 D and -3.5 D. At 6 months postoperatively, the mean postoperative uncorrected distance visual acuity (UDVA) was 0.93 ± 0.17 (range 0.4 to 1.2) in the Moria group and 1.0 ± 0.21 (range 0.6 to 1.6) in the Femto group, which was statistically significant (p = 0.003). Comparing the cylinder power there was a statistical difference between the two groups (p = 0.0015). CONCLUSIONS: This study shows that the method of flap creation has a significant impact on postoperative astigmatism with a significantly better postoperative UDVA in the Femto group. These findings suggest that the femtosecond laser provides a better platform for LASIK treatment of astigmatism than the commonly used microkeratome.
Assuntos
Astigmatismo/epidemiologia , Astigmatismo/cirurgia , Retalhos de Tecido Biológico/estatística & dados numéricos , Ceratomileuse Assistida por Excimer Laser In Situ/estatística & dados numéricos , Microcirurgia/estatística & dados numéricos , Adulto , Astigmatismo/diagnóstico , Feminino , Humanos , Masculino , Prevalência , Estudos Retrospectivos , Medição de Risco , Suíça/epidemiologia , Resultado do TratamentoRESUMO
BACKGROUND: To evaluate the long-term efficacy of multilayer amniotic membrane transplantation for reconstruction of epithelium and stroma in non-traumatic corneal perforations (less than 2 mm) or deep ulcers with descemetocele. DESIGN: Retrospective, non-comparative, interventional case series. PATIENTS AND METHODS: Eleven consecutive patients with non-traumatic corneal perforations or deep corneal ulcers with descemetocele refractory to conventional treatments: herpetic or zoster keratitis (n = 4), Sjögren's syndrome (n = 2), rosacea (n = 1), hydrops (n = 1), mucous membrane pemphigoid (n = 1), bacterial keratitis (n = 1) and perforation after protontherapy for melanoma (n = 1). Intervention was: multilayer amniotic membrane transplantation with cryopreserved amniotic membrane. Complication rate and clinical outcome were evaluated in this long-term follow-up. RESULTS: Mean follow-up was 32 months (12 to 60). Integration of the multilayer amniotic membrane was obtained in 10 cases after one year. Corneal epithelium healed above the membrane in 10 cases within 3 weeks and remained stable after 32 months in 9 cases. Thickness of the stroma was increased and remained stable during the follow-up in 9 cases. In one case herpetic keratitis recurred with a corneal perforation. The clearing of the amniotic membrane was gradually obtained over a period of 11 months. Complications occurred in 15% of the eyes during the long-term follow-up. CONCLUSION: Multilayer amniotic membrane transplantation is a safe and efficient technique for a long restoration of the corneal integrity after non-traumatic corneal perforations or deep corneal ulcers with descemetocele. Long-term prognosis of these eyes depends of the gravity of the initial disease.
Assuntos
Âmnio/transplante , Curativos Biológicos , Perfuração da Córnea/diagnóstico , Perfuração da Córnea/cirurgia , Úlcera da Córnea/diagnóstico , Úlcera da Córnea/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Traumatismos Oculares/diagnóstico , Traumatismos Oculares/cirurgia , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Resultado do TratamentoRESUMO
Mucous membrane pemphigoid (MMP) is a progressive inflammatory disease of autoimmune etiology. We performed a retrospective analysis of clinical signs and treatment on 16 patients. Conjunctival biopsies were performed in all patients and showed typical immuno-deposits at the basement membrane zone. The mean age at presentation was 69 years, 60 % were female.12 patients demonstrated ocular involvement (11 bilaterally). At the time of referral to our hospital, 92 % had reached an advanced stage III or IV. All patients presented conjunctival fibrosis with resultant fornix foreshortening. Trichiasis and symblepharon were found in 11 patients. Keratitis was found in 11 patients resulting in ulceration in 5 cases. Complications required surgical interventions included: entropion surgery (n = 2), tarsorrhaphy (n = 1), amniotic membrane transplantation (n = 2), keratoplasty (n = 1). Systemic immunomodulatory therapy is the treatment of choice. Dapsone (n = 8), steroids (n = 8), azathioprine (n = 5), cyclophosphamide (n = 2), mycophenolate mofetil (n = 4) and methotrexate (n = 1) were used concomitantly or consecutively. Early diagnosis can prevent ocular complications. Immunomodulatory therapy has provided an avenue for preserving vision. The management of MMP requires a multidisciplinary approach.
Assuntos
Túnica Conjuntiva/patologia , Ceratite/complicações , Ceratite/patologia , Penfigoide Mucomembranoso Benigno/complicações , Penfigoide Mucomembranoso Benigno/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Indústrias , Masculino , Pessoa de Meia-IdadeAssuntos
Hemangioma/etiologia , Neoplasias da Íris/etiologia , Miopia/complicações , Miopia/reabilitação , Lentes Intraoculares Fácicas/efeitos adversos , Uveíte/etiologia , Anti-Inflamatórios/uso terapêutico , Dexametasona/uso terapêutico , Feminino , Hemangioma/tratamento farmacológico , Humanos , Neoplasias da Íris/tratamento farmacológico , Pessoa de Meia-Idade , Resultado do Tratamento , Uveíte/tratamento farmacológicoRESUMO
INTRODUCTION: In this study we describe and discuss the way we daily act in remote telematic tracking of CF outpatients, a procedure which has been improved through our daily experience in telehomecare. MATERIALS AND METHODS: Currently, there are almost 30 patients involved in our telehomecare project. We describe and discuss intervention parameters and the way we manage a register of performances in spreadsheet format. We also describe the training program for the patients and their and the procedures through which we maintain contacts with patients and Vivisol assistance and the periodical satisfaction surveys. RESULTS: (from 15 of february 2010 to 24 of may 2011). Total transmissions 882, Spirometry 1317, SaO2 291, Compliance (transmissions/patient days) 8,91%, Hospital controls 19, Total contacts 722, Phone calls 494. DISCUSSION: We analyze the 2010 - 2011 data. We discuss the compliance of patients toward Telehomecare, the efficacy of cell phone in establishing contact with patients and the relevancy of symptoms' rescue in diagnosing the pulmonary relapse episodes. We discuss medico-legal aspects of telemedicine activity, in the light of standards and legislation, including issues related to the processing of privacy and security data. We discuss the professional team needs and requirements, dedicated to the activities of telemedicine and procedures related to clinical risk management. We conclude by underlying how telemedicine represents a promising new tool for patients and health professionals, and that under certain conditions it can improve the assistance, working conditions and also to reduce costs. However, its usage has to be followed by precise studies about its efficacy, and also by paying particular attention to the partly new issues that derive from it.
Assuntos
Fibrose Cística/fisiopatologia , Monitorização Ambulatorial/métodos , Oximetria/métodos , Espirometria/métodos , Telemedicina/métodos , Segurança Computacional/legislação & jurisprudência , Fibrose Cística/sangue , Registros Eletrônicos de Saúde/legislação & jurisprudência , Volume Expiratório Forçado , Serviços de Assistência Domiciliar , Humanos , Itália , Monitorização Ambulatorial/instrumentação , Oximetria/instrumentação , Oxigênio/sangue , Equipe de Assistência ao Paciente , Educação de Pacientes como Assunto , Satisfação do Paciente , Espirometria/instrumentação , Telemedicina/instrumentação , TelefoneAssuntos
Carcinoma Mucoepidermoide/patologia , Neoplasias da Túnica Conjuntiva/patologia , Granuloma/patologia , Idoso , Diagnóstico Diferencial , Humanos , Ceratite/complicações , Ceratite/patologia , Masculino , Doenças da Esclera/complicações , Doenças da Esclera/patologia , Uveíte/complicações , Uveíte/patologiaRESUMO
BACKGROUND: Infectious keratitis after PRK remains a rare but potentially devastating complication. HISTORY AND SIGNS: Medical records of 3 male patients with infectious keratitis after uneventful PRK for myopia and astigmatism were reviewed retrospectively. PRK was performed using the Wavelight Allegretto excimer laser. Postoperative care included a bandage contact lens (BCL) for 5 days, topical antibiotics, ketorolac, and artificial tears. THERAPY AND OUTCOME: Keratitis presented 2 - 4 days postoperatively. In one case, each culture was negative (case 1), and was positive for Streptococcus pneumoniae (case 2) and Staphylococcus aureus (case 3). Final BSCVA (best spectacle corrected visual acuity) after intensive antibiotic treatment and removal of BCL were 1.0 (case 1), 0.9 (case 2) and 0.3 correctable to 0.8 with pinhole (case 3). CONCLUSIONS: Postoperative broad-spectrum antibiotics are mandatory after PRK to prevent infectious keratitis. However, resistant organisms are more and more common. The presence of a bandage soft contact lens after surgery is an unfavourable element that may increase risk of infection. Based on our case series, we suggest limiting soft contact lens wear during the two postoperative days even if the corneal ulceration is not healed.
Assuntos
Ceratite/etiologia , Ceratite/terapia , Ceratectomia Fotorrefrativa/efeitos adversos , Adulto , Humanos , Ceratite/diagnóstico , MasculinoRESUMO
We investigated a new procedure for gene transfer into the stroma of pig cornea for the delivery of therapeutic factors. A delimited space was created at 110 mum depth with a LDV femtosecond laser in pig corneas, and a HIV1-derived lentiviral vector expressing green fluorescent protein (GFP) (LV-CMV-GFP) was injected into the pocket. Corneas were subsequently dissected and kept in culture as explants. After 5 days, histological analysis of the explants revealed that the corneal pockets had closed and that the gene transfer procedure was efficient over the whole pocket area. Almost all the keratocytes were transduced in this area. Vector diffusion at right angles to the pocket's plane encompasses four (endothelium side) to 10 (epithelium side) layers of keratocytes. After 21 days, the level of transduction was similar to the results obtained after 5 days. The femtosecond laser technique allows a reliable injection and diffusion of lentiviral vectors to efficiently transduce stromal cells in a delimited area. Showing the efficacy of this procedure in vivo could represent an important step toward treatment or prevention of recurrent angiogenesis of the corneal stroma.
Assuntos
Substância Própria/citologia , Cirurgia da Córnea a Laser/métodos , Vetores Genéticos/administração & dosagem , Lentivirus/genética , Transdução Genética/métodos , Animais , Neovascularização da Córnea/terapia , Substância Própria/metabolismo , Proteínas de Fluorescência Verde/metabolismo , Humanos , Injeções Intraoculares , SuínosRESUMO
Treatment of corneal epithelial diseases induced by limbal stem cell deficiency is an important challenge in ocular surface reconstruction. Since the 1990s, corneal stem cells have been localized in the limbus. This new concept completely changed the way we consider ocular surface reconstruction, with new diseases now found to be isolated in the ocular surface. Limbus insufficiency syndromes are specific depending on their origin (congenital or acquired), their expression (unilateral or bilateral, partial or total), their progression (acute or chronic), and the mechanism involved (burn, infection, chronic inflammation, etc.). Some of these diseases are local diseases and others are systemic diseases. Clinically, limbus insufficiency is a switch of the normal corneal epithelial phenotype (expression of a specific keratin, avascularity, and transparency of the corneal matrix) in an opaque and fibrovascularized cornea. In terms of cellular biology, a phenotype is a terminal expression of a cell differentiation process. This process is the outcome of the interaction between the genome of a cell or a group of cells with their microenvironment. In limbus insufficiency, epithelial cells and corneal matrix are destroyed, and it is the destruction of these two components that leads to limbus insufficiency syndrome.
Assuntos
Doenças da Córnea/etiologia , Epitélio Corneano , Limbo da Córnea/citologia , Células-Tronco , Diferenciação Celular , Humanos , Limbo da Córnea/patologiaRESUMO
Epithelial, stromal or endothelial diseases can generate corneal opacity. A lake of corneal epithelial cells leads to corneal opacity and low visual acuity. In these cases, corneal epithelial stem cells from the limbus of the healthy eye or from relatives or other people must be grafted to regenerate corneal epithelium. It is also possible to cultivate corneal stem cells harvested from the sick eye, the healthy eye (autologous culture) or from relatives (allotypic culture). Renewing epithelial cells is not always sufficient to restore corneal transparency. It can also be necessary to replace a part or the entire corneal stroma. We can use today surgical lamellar graft technics to replace only stromal corneal layers involved in the disease we cure.