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1.
Skin Res Technol ; 29(8): e13422, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37632188

RESUMO

OBJECTIVE: Skin laxity and wrinkling are common signs of the aging process. This physiological condition of the skin is often accompanied by psychological and social concerns, especially for females, entailing considerable expenses for cosmetics and pharmaceuticals to cease or slow down its advancement. The objective of this study was to evaluate the short-term impact of a new non-ablative radiofrequency device available in the skin face cosmetic field. METHODS: A randomized study was run on 62 healthy subjects with normal-age related-grade skin laxity, subdivided into two groups. Group 1 received one treatment with Modula RF device (Wavemed, San Cesareo RM, Italy) over the whole face surface. Group 2 received three monthly treatments. RESULTS: Clinical improvements of the exposed areas were detected by measuring skin parameters, such as total water content, elasticity, and sebum levels at baseline and 1 h after the treatment. Data showed significant effects of Med-RF treatment on skin hydration (p < 0.001), skin elasticity (p < 0.0001), and sebum (p = 0.0009). Moreover, a negative linear correlation was obtained between women's age and hydration. CONCLUSION: In conclusion, the results of this study suggest that radiofrequency significantly improves the subjective and objective judgment of patients and doctors, supported by the positive results obtained on the skin quality parameters evaluated. These results confirm that Med-RF technology represents an important tool to achieve face rejuvenation in the field of non-invasive procedures.


Assuntos
Rejuvenescimento , Pele , Feminino , Humanos , Elasticidade , Face , Voluntários Saudáveis
2.
Graefes Arch Clin Exp Ophthalmol ; 260(10): 3185-3195, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-35511286

RESUMO

PURPOSE: PERSEUS-IT (NCT02289924) was a prospective, observational, 2-year study evaluating the effectiveness and treatment patterns of intravitreal aflibercept (IVT-AFL) in patients with neovascular age-related macular degeneration (nAMD) in routine clinical practice in Italy. METHODS: Treatment-naïve patients with nAMD receiving IVT-AFL per routine clinical practice were enrolled. The primary endpoint was mean change in visual acuity (VA; decimals) from baseline to month (M) 12 and M24. Outcomes were evaluated for the overall study population and independently for the 2 treatment cohorts: regular (3 initial monthly doses, ≥ 7 injections by M12, and ≥ 4 injections between M12 and M24) and irregular (any other pattern). RESULTS: Of 813 patients enrolled, 709 were included in the full analysis set (FAS); VA assessments were available for 342 patients at M12 (FAS1Y, 140 regular and 202 irregular) and 233 patients at M24 (FAS2Y, 37 regular and 196 irregular). In the overall FAS, the mean ± SD change in VA from baseline to M12 and M24 was + 0.09 ± 0.24 and + 0.02 ± 0.25 decimals, and there was a statistically significant difference between the regular and irregular cohorts in both FAS1Y (p = 0.0034) and FAS2Y (p = 0.0222). Ocular treatment-emergent adverse events were reported in 4.1% (n = 33/810 [safety set]) of patients. CONCLUSION: In PERSEUS-IT, clinically relevant functional and anatomic improvements were observed within the first 12 months of IVT-AFL treatment in routine clinical practice in Italy in patients with treatment-naïve nAMD. These gains were generally maintained across the 2-year study. The safety profile of IVT-AFL was consistent with prior studies. TRIAL REGISTRATION NUMBER: ClinicalTrials.gov Identifier: NCT02289924. DATE OF REGISTRATION: November 13, 2014.


Assuntos
Inibidores da Angiogênese , Degeneração Macular , Humanos , Injeções Intravítreas , Degeneração Macular/tratamento farmacológico , Estudos Prospectivos , Ranibizumab , Receptores de Fatores de Crescimento do Endotélio Vascular/uso terapêutico , Proteínas Recombinantes de Fusão/uso terapêutico , Resultado do Tratamento
3.
Lasers Med Sci ; 37(7): 2831-2835, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35435595

RESUMO

Chronic venous insufficiency has a high impact on the healthcare system due to its high incidence worldwide. We performed a study in 30 women with thigh and leg varices due to major saphenous vein valve incontinence with saphenous trunk reflux causing phlebo-lymphoedema to assess the efficacy of sclerofoam-assisted laser treatment combined with nutraceutical administration. The patients underwent endovascular combination sealing of the saphenous trunk with sclerofoam-assisted laser treatment technique into the major saphenous veins under low-volume tumescent anesthesia followed by intraoperative phlebectomies. Post-operatively, the patients received capsules containing Aesculus Hippocastanum, chondroitin sulphate, proanthocyanidins from Pinus pinaster Aiton, proanthocyanidins from Vitis vinifera L., hydrolysed marine collagen and carcinine dihydrochloride for 3 weeks. We evaluated the extracellular fluid volume of the lower limbs using bioimpedance spectroscopy pre- (T0) and post-surgery (T2) (impedance is a vector which is composed of two components, resistance [RES] and reactance [REA)]). In addition, we evaluated the following parameters pre- and post-surgery: pain, heaviness, paresthesia, itching, swelling, daily urine volume output and leg volume. Limb volume was significantly decreased at T2 compared to T0 (p < 0.01). RES and REA were significantly increased at T2 compared to T0 (p < 0.0001 and p < 0.01, respectively). A significant improvement in heaviness, paresthesia, pain, swelling and itch was also observed (all p < 0.0001) while no changes in terms of diuresis occurred. No adverse effects were observed. The present study shows a promising approach to the treatment of chronic venous insufficiency that warrants further clinical studies in larger cohorts of patients.


Assuntos
Proantocianidinas , Varizes , Insuficiência Venosa , Suplementos Nutricionais , Feminino , Humanos , Dor , Parestesia , Veia Safena/cirurgia , Resultado do Tratamento , Insuficiência Venosa/cirurgia
4.
Medicina (Kaunas) ; 58(9)2022 Aug 30.
Artigo em Inglês | MEDLINE | ID: mdl-36143855

RESUMO

BACKGROUND AND OBJECTIVES: Brolucizumab is a novel anti-vascular endothelial growth factor (VEGF), whose efficacy has been shown in the Hawk and Harrier phase 3 clinical studies. The goal of the present case series is to report initial results of brolucizumab intravitreal injections (IVI) on type 3 neovascularization in neovascular age-related macular degeneration (nAMD), evaluated by optical coherence tomography angiography (OCTA). MATERIALS AND METHODS: This is a bicentric retrospective case series. Patients with newly diagnosed type 3 MNV treated with brolucizumab IVI and at least 6 months follow-up were enrolled. OCTA en face images and B-scans were analyzed for lesions at baseline, 1 month, 3 months, and 6 months. Whenever detectable, lesion area on outer retina and choriocapillaris layers was measured. RESULTS: Twelve eyes of 12 patients were included into the study. The most consistent OCTA sign at baseline was the presence of a vascular tuft in the outer retina (100%). The highest response was achieved at 3 months, with statistically significant decrease in lesion detection in the outer retina, in the choriocapillaris, and outer retinal lesion size. At 6 months, 58% of outer retinal lesions had disappeared. CONCLUSIONS: Brolucizumab IVI shows a good short-term efficacy for the treatment of type 3 neovascularizations. Further studies with greater number of patients and longer follow-up are warranted to confirm these findings.


Assuntos
Tomografia de Coerência Óptica , Fator A de Crescimento do Endotélio Vascular , Anticorpos Monoclonais Humanizados , Fatores de Crescimento Endotelial , Angiofluoresceinografia/métodos , Humanos , Injeções Intravítreas , Neovascularização Patológica , Estudos Retrospectivos , Tomografia de Coerência Óptica/métodos , Acuidade Visual
5.
Int Ophthalmol ; 42(2): 601-610, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-35034223

RESUMO

INTRODUCTION: To evaluate the effects of combined therapy using intravitreal Aflibercept (IVA) and photodynamic therapy (PDT) on polypoidal choroidal vasculopathy related to pachychoroid disease (PPCV). METHODS: Patients with PPCV were treated with PDT combined with 3 IVA injections on a monthly basis, followed by pro re nata criteria. The 12-month follow-up consisted of multiple revaluations of visual acuity and SS-OCT parameters of clinical activity. RESULTS: Nineteen eyes were included in the study; mean age was 65.5 years. Visual acuity improved after 12 months (0.35 ± 0.25 to 0.2 ± 0.20 logMAR, p = 0.005). Percentage of eyes with intraretinal and subretinal fluid reduced from baseline to the 12-month follow-up (from 52.6 to 10.5%, p = 0.12, and from 89.5 to 5.3% p = 0.0009, respectively). Central retinal and mean macular thicknesses reduced (258 ± 39.6 to 204.8 ± 38.8 µm p = 0.04 and 293.8 ± 32.1 to 248.1 ± 29.6 µm p = 0.017, respectively). Central choroidal and mean choroidal thicknesses also displayed a reduction (328.6 ± 54.9 to 289.8 ± 44.6 µm p = 0.001 and 314.5 ± 55.3 to 287.9 ± 47.6 µm p = 0.015, respectively). The mean number of injections was 4.6/year. CONCLUSION: The results support the use of a combined therapy with Aflibercept and PDT in PPCV. This treatment would act in synergy, with anti-VEGF controlling exudation and PDT closing the aneurysmal vessel and reducing choroidal congestion.


Assuntos
Fotoquimioterapia , Idoso , Inibidores da Angiogênese/uso terapêutico , Angiofluoresceinografia , Humanos , Injeções Intravítreas , Receptores de Fatores de Crescimento do Endotélio Vascular/uso terapêutico , Proteínas Recombinantes de Fusão , Estudos Retrospectivos , Tomografia de Coerência Óptica , Resultado do Tratamento
6.
Exp Eye Res ; 209: 108641, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34058230

RESUMO

Blindness due to photoreceptor degeneration is observed in both genetic and acquired eye disorders. Long blue light exposure can contribute to increase levels of oxidative compounds within the retinal pigment epithelium (RPE), enhancing risk of retinal damage. In retina, reactive oxygen species contribute to the activation of inflammatory cascade. If chronic, this inflammatory response can result in photoreceptor death. Therefore, we investigated the effects of the endogenous adduct N-retinylidene-N-retinylethanolamine (A2E) on RPE cells, in order to identify the most dysregulated cytokines and their related inflammatory pathways. RPE cells were exposed to A2E and blue light for 3h and 6h. By transcriptome analysis, we identified differentially expressed genes in A2E-treated cells, when compared to untreated ones. Expression values were quantified by the Limma R package. Enrichment analysis was performed according to the "Reactome" and the Gene Ontology databases. Expression of pro-inflammatory cytokines increased after 3h of A2E treatment and pathways related to IL-6 and IL-1 signaling resulted enriched. Also the up-regulation of genes having a protective role against inflammation was observed. Moreover, our results show that ferroptosis could contribute to RPE degeneration induced by A2E and blue light. Dysregulated genes related to retinal degeneration triggered by oxidative damage and inflammatory response activation identified in this study can be considered as potential biomarkers for targeted therapies.


Assuntos
Citocinas/genética , Regulação da Expressão Gênica , Inflamação/genética , Degeneração Retiniana/genética , Epitélio Pigmentado da Retina/metabolismo , Retinoides/genética , Linhagem Celular , Sobrevivência Celular , Doença Crônica , Citocinas/biossíntese , Humanos , Inflamação/metabolismo , Inflamação/patologia , Espécies Reativas de Oxigênio/metabolismo , Degeneração Retiniana/metabolismo , Degeneração Retiniana/patologia , Epitélio Pigmentado da Retina/patologia , Pigmentos da Retina , Retinoides/biossíntese , Transdução de Sinais
7.
Retina ; 41(12): 2540-2548, 2021 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-34851885

RESUMO

PURPOSE: To evaluate the radial peripapillary capillary plexus (RPCP) vessel density (VD) and the retinal nerve fiber layer (RNFL) thickness in eyes successfully treated with pars plana vitrectomy for primary rhegmatogenous retinal detachment. METHODS: In this cross-sectional multicenter clinical study, eyes with a minimum 12-month follow-up were reexamined. The RPCP VD and RNFL thickness in the rhegmatogenous retinal detachment subfields of the affected eye (study group) were compared with the corresponding areas of the healthy fellow eyes (control group). RESULTS: Fifty-three eyes were included in the study. A significantly lower RPCP VD and RNFL thickness were observed in those subfields affected by rhegmatogenous retinal detachment compared with those of the control group (P < 0.001). No statistically significant differences were observed between undetached subfields in the study group and their corresponding images in the control group. In the study group, a significant correlation was found between RPCP VD and RNFL thickness in subfields with detached retina (r = 0.393, P < 0.001) and undetached retina (r = 0.321, P < 0.001). CONCLUSION: Radial peripapillary capillary plexus VD changes were found in the subfields of detached retina successfully treated with pars plana vitrectomy and they correlated with RNFL thinning. These data suggest a coexistence of neuronal and microvascular damage in patients affected by rhegmatogenous retinal detachment.


Assuntos
Angiografia por Tomografia Computadorizada , Disco Óptico/irrigação sanguínea , Descolamento Retiniano/cirurgia , Vasos Retinianos/fisiopatologia , Tomografia de Coerência Óptica , Vitrectomia , Idoso , Comprimento Axial do Olho , Biometria/métodos , Estudos Transversais , Tamponamento Interno , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fibras Nervosas/patologia , Disco Óptico/diagnóstico por imagem , Descolamento Retiniano/diagnóstico por imagem , Descolamento Retiniano/fisiopatologia , Células Ganglionares da Retina/patologia , Vasos Retinianos/diagnóstico por imagem , Estudos Retrospectivos , Acuidade Visual/fisiologia
8.
Medicina (Kaunas) ; 57(2)2021 Feb 03.
Artigo em Inglês | MEDLINE | ID: mdl-33546152

RESUMO

Background and Objectives: The objective of this paper is to compare the visual outcomes and quality of life (QoL) after bilateral ultrathin Descemet's stripping automated endothelial keratoplasty (UT-DSAEK) with bilateral penetrating keratoplasty (PK) for Fuchs' endothelial dystrophy (FED). Materials and Methods: Retrospective comparative cohort study, including 11 patients with FED who underwent bilateral PK and 13 patients with FED who underwent bilateral UT-DSAEK. All patients were already pseudophakic or had undergone a combined cataract procedure. The main outcomes were corrected distance visual acuity (CDVA) corneal higher-order aberrations (HOAs), contrast sensitivity (CS) and quality of life (QoL). Results: The mean follow-up after the second eye surgery was 32.5 ± 10.2 months in PK and 19.6 ± 8.6 months in UT-DSAEK patients. The CDVA in the UT-DSAEK group was significantly better than in the PK one (0.18 ± 0.07 vs. 0.35 ± 0.16 logMAR, p < 0.0001). The mean anterior corneal total HOAs of the central 5 mm were significantly lower in UT-DSAEK eyes than in PK eyes (0.438 ± 0.078 µ and 1.282 ± 0.330 µ respectively, p < 0.0001), whilst the mean posterior total HOAs did not differ between groups (0.196 ± 0.056 µ and 0.231 ± 0.089 µ, respectively, p = 0.253). The CS was lower at 0.75 and 1.5 cycles/degree in P the K group when compared to the DSAEK one (p = 0.008 and 0.005, respectively). The QoL scores by the NEI RQL-42 test exhibited better values in DSAEK patients in 9 out of 13 scales. Conclusion: Our study confirms that UT-DSAEK provides a better visual function in terms of CDVA and CS, together with lower HOAs, when compared to PK. Hence, the vision-related QoL, binocularly evaluated by the NEI RQL-42 items, indicates a higher satisfaction in UT-DSAEK eyes.


Assuntos
Ceratoplastia Endotelial com Remoção da Lâmina Limitante Posterior , Distrofia Endotelial de Fuchs , Estudos de Coortes , Sensibilidades de Contraste , Distrofia Endotelial de Fuchs/cirurgia , Humanos , Ceratoplastia Penetrante , Qualidade de Vida , Estudos Retrospectivos
9.
J Med Virol ; 92(11): 2429-2439, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32472706

RESUMO

We report a review of all the experimental and clinical studies performed in the last 60 years on the antiviral activity of inactivated Corynebacterium parvum (Cutibacterium acnes). This bacterium has been originally investigated and used for its oncolytic properties linked to immunomodulating activity, but the interest to successfully prevent and treat bacterial, fungal, and viral infections and lethality, uprising the innate immunity barriers produced many experimental models and very few clinical studies. The dramatic defenseless situation due to impending CoViD-19 pandemic claims to exhume and highlight this aspecific strategy in preventive and therapeutic settings; as a matter of fact, no new or mutated virus can potentially escape to this strong innate immune surveillance strengthened by adequate C. parvum protocols.


Assuntos
Imunidade Inata , Fatores Imunológicos/administração & dosagem , Vigilância Imunológica , Propionibacterium acnes/imunologia , Viroses/imunologia , Viroses/terapia , Animais , COVID-19/prevenção & controle , Ensaios Clínicos como Assunto , Humanos , Fatores Imunológicos/uso terapêutico , Viroses/prevenção & controle
10.
Eur Radiol ; 30(4): 2138-2141, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31953667

RESUMO

BACKGROUND: Lacrimal gland (LG) involvement in patients with Graves ophthalmopathy (GO) has been considered as a potential cause of the associated GO symptoms and different studies demonstrated the LG involvement in patients with GO than healthy controls. The aim of this study was to evaluate LG involvement, through measurement of its herniation, using a magnetic resonance imaging (MRI) index, in patients with different GO activities. METHODS: Thirty-two consecutive Caucasian patients affected by GO were enrolled and grouped in group A (16 with inactive GO, CAS < 3) and B (16 with active GO, CAS ≥ 3) according to their GO activity. All patients underwent clinical-endocrinological assessment, a complete ocular evaluation, and orbital MRI examination. RESULTS: No difference was found between the hormonal parameters, thyroid ultrasound-derived parameters, and thyroid-stimulating hormone (TSH) receptor (TSH-R) antibodies (TRAb) levels in group B and those in group A. The LG herniation (LGH) measurement evaluated by MRI was significantly higher in group B for both right (10.1 (7.3-17) vs. 7 (0-3.4) mm; p = 0.004) and left (8.5 (6.6-13) vs. 5.8 (0-12) mm; p = 0.026) eye than group A. A positive correlation was found between TRAb and LGH herniation (Rho 0.462, p = 0.009). CONCLUSIONS: Measurement of LGH seems to be a good marker of the disease and GO activity. KEY POINTS: • Lacrimal gland herniation is a simple index related to disease activity • Lacrimal gland herniation is correlated to TRAb levels • Lacrimal gland evaluation could be useful to differentiate active from inactive Graves ophthalmopathy in an early stage of disease.


Assuntos
Oftalmopatia de Graves/complicações , Hérnia/diagnóstico , Aparelho Lacrimal/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Adulto , Idoso , Feminino , Oftalmopatia de Graves/diagnóstico , Hérnia/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Índice de Gravidade de Doença
11.
Int J Clin Pract ; 74(11): e13612, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32668490

RESUMO

AIM OF THE STUDY: We designed a retrospective, monocentric, observational study to assess the efficacy and short-term side effect profile of desmopressin, a synthetic analogue of antidiuretic hormone, in 42 elderly patients affected by nocturnal polyuria (NP), a subset of nocturia (nocturnal overproduction of urine at night), which is characterised by nocturnal urine volume (NVU) exceeding 33% of the 24-hours total urine output. METHODS USED TO CONDUCT THE STUDY: The subjects had NP and included 25 males, which had benign prostatic hyperplasia (12 out of 25 had been surgically or endoscopically operated) and 15 females that had increased urinary frequency, night-time voiding, loss of bladder control and recurrent bladder infections, due to perineal wall weakness and vaginal or bladder prolapse. Patients recorded the number of voids during waking hours using a digital continuous urine meter. The quality of life (QoL) and efficacy of desmopressin were assessed at baseline and 12 weeks after treatment using the International Consultation on Incontinence Questionnaire Nocturia Quality of Life Module (ICIQ-Nqol) and International Prostate Symptom Score questionnaire (IPPS-Q8). The dosage of desmopressin acetate varied according to the discretion of the physician, usually beginning with one tablet before going to bed at night for 3 months. The dose was increased at 1-week intervals if a reduction in the NVU or night-time frequency was not achieved. RESULTS OF THE STUDY: We found that desmopressin treatment reduced the nocturnal voided volume (P < .0001), ICIQ-Nqol (P < .0001) and IPPS-Q8 (P < .0001). No significant serum sodium alterations or modifications in serum creatine, potassium, or body weight were observed in all the patients. No adverse effects were observed. CONCLUSIONS DRAWN FROM THE STUDY AND CLINICAL IMPLICATIONS: Our findings show efficacy of desmopressin in the elderly for NP treatment supporting further clinical trials in larger cohorts of patients.


Assuntos
Desamino Arginina Vasopressina , Noctúria , Idoso , Antidiuréticos/uso terapêutico , Desamino Arginina Vasopressina/uso terapêutico , Feminino , Humanos , Masculino , Noctúria/tratamento farmacológico , Poliúria/tratamento farmacológico , Qualidade de Vida , Estudos Retrospectivos
12.
J Wound Care ; 29(7): 408-418, 2020 Jul 02.
Artigo em Inglês | MEDLINE | ID: mdl-32654604

RESUMO

Wound healing is the sum of physiological sequential steps, leading to skin restoration. However, in some conditions, such as diabetes, pressure ulcers (PU) and venous legs ulcers (VLU), healing is a major challenge and requires multiple strategies. In this context, some electromedical devices may accelerate and/or support wound healing, modulating the inflammatory, proliferation (granulation) and tissue-remodelling phases. This review describes some helpful electromedical devices including: ultrasonic-assisted wound debridement; electrotherapy; combined ultrasound and electric field stimulation; low-frequency pulsed electromagnetic fields; phototherapy (for example, laser therapy and light-emitting diode (LED) therapy); biophotonic therapies, and pressure therapies (for example, negative pressure wound therapy, and high pressure and intermittent pneumatic compression) The review focuses on the evidence-based medicine and adequate clinical trial design in relation to these devices.


Assuntos
Tratamento de Ferimentos com Pressão Negativa/instrumentação , Úlcera por Pressão/terapia , Humanos , Cicatrização
13.
Int J Mol Sci ; 21(20)2020 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-33076433

RESUMO

Diseases associated with acquired or genetic defects in members of the chaperoning system (CS) are increasingly found and have been collectively termed chaperonopathies. Illustrative instances of genetic chaperonopathies involve the genes for chaperonins of Groups I (e.g., Heat shock protein 60, Hsp60) and II (e.g., Chaperonin Containing T-Complex polypeptide 1, CCT). Examples of the former are hypomyelinating leukodystrophy 4 (HLD4 or MitCHAP60) and hereditary spastic paraplegia (SPG13). A distal sensory mutilating neuropathy has been linked to a mutation [p.(His147Arg)] in subunit 5 of the CCT5 gene. Here, we describe a new possibly pathogenic variant [p.(Leu224Val)] of the same subunit but with a different phenotype. This yet undescribed disease affects a girl with early onset demyelinating neuropathy and a severe motor disability. By whole exome sequencing (WES), we identified a homozygous CCT5 c.670C>G p.(Leu224Val) variant in the CCT5 gene. In silico 3D-structure analysis and bioinformatics indicated that this variant could undergo abnormal conformation and could be pathogenic. We compared the patient's clinical, neurophysiological and laboratory data with those from patients carrying p.(His147Arg) in the equatorial domain. Our patient presented signs and symptoms absent in the p.(His147Arg) cases. Molecular dynamics simulation and modelling showed that the Leu224Val mutation that occurs in the CCT5 intermediate domain near the apical domain induces a conformational change in the latter. Noteworthy is the striking difference between the phenotypes putatively linked to mutations in the same CCT subunit but located in different structural domains, offering a unique opportunity for elucidating their distinctive roles in health and disease.


Assuntos
Chaperonina com TCP-1/genética , Neuropatia Hereditária Motora e Sensorial/genética , Mutação de Sentido Incorreto , Idade de Início , Chaperonina com TCP-1/química , Feminino , Neuropatia Hereditária Motora e Sensorial/patologia , Humanos , Recém-Nascido , Simulação de Dinâmica Molecular , Bainha de Mielina/metabolismo , Fenótipo
14.
Medicina (Kaunas) ; 56(1)2020 Jan 20.
Artigo em Inglês | MEDLINE | ID: mdl-31968622

RESUMO

Background and Objectives: To compare the long-term toxicity of infracyanine green (IFCG) to brilliant blue G (BBG) in inverted internal limiting membrane flap surgery (I-ILMFS) for large, full-thickness macular holes (FTMHs). Materials and Methods: Prospective randomized study including 39 eyes with ≥ 400 µm idiopathic FTMH who underwent I-ILMFS with either IFCG or BBG. Postoperative 6- and 12-month corrected distance visual acuity (CDVA), closure rate, and swept-source optical coherence tomography parameters, including ellipsoid zone (EZ) and external limiting membrane (ELM) mean defect length, central foveal thicknesses (CFT), parafoveal macular thickness (MT), ganglion cells and inner plexiform layer (GCL++) thickness, and peripapillary nerve fiber layer (pRNFL) thickness, were compared. Results: Nineteen eyes were included in the IFCG group and 20 eyes in the BBG group. In all cases a FTMH closure was found. CDVA improved at 6 and 12 months in both groups (p < 0.0005); the increase at 12 months was greater in the BBG group (p = 0.036). EZ and ELM defects did not differ between groups at either follow-up time. CFT at 12 months was greater in the BBG group (p = 0.041). A 12-months compared to 6-months MT decrease was present in both groups (p < 0.01). The GCL++ superior inner sector was thicker in the BBG group at 12 months (p = 0.036), as were the superior outer sector (p = 0.039 and p = 0.027 at 6 and 12 months, respectively) and inferior outer sector (p = 0.011 and p = 0.009 at 6 and 12 months, respectively). Conclusion: In our study BBG in I-ILMFS exhibits better long-term CDVA and retinal thickness than does IFCG, suggesting a lesser toxicity from BBG. These findings support the use of BBG over IFCG in I-ILMFS.


Assuntos
Meios de Contraste , Verde de Indocianina/análogos & derivados , Perfurações Retinianas/cirurgia , Corantes de Rosanilina , Tomografia de Coerência Óptica/métodos , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Retina/diagnóstico por imagem , Retina/cirurgia , Perfurações Retinianas/diagnóstico por imagem , Retalhos Cirúrgicos/cirurgia , Resultado do Tratamento
15.
Int Ophthalmol ; 40(10): 2569-2576, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32507951

RESUMO

PURPOSE: To assess the usefulness of a dedicated questionnaire for patients with inflammatory bowel diseases (IBD) treated with biological drugs for the detection of ocular extraintestinal manifestations (EIMs). IBD can cause extraintestinal symptoms including ocular complaints which are frequently ignored and may be associated with significant morbidity, including blindness. METHODS: We developed a questionnaire, named Ocular Manifestations in IBD Screening (OMIS) questionnaire, after agreement between gastroenterologists and ophthalmologists. The questionnaire was administered by a non-ophthalmologist physician to 96 IBD patients treated with biological drugs. RESULTS: 35 patients (36.5%) were selected for the ophthalmologic examination on the basis of a positive screening test. Ocular EIMs were detected in 29 of 35 patients (83%). CONCLUSION: A specific questionnaire can be useful for non-ophthalmologist physicians in a real world setting in order to select patients to be addressed to an ophthalmological visit, creating an integrated multidisciplinary clinical team, to improve management of IBD in order to prevent disability and guarantee quality of life.


Assuntos
Doenças Inflamatórias Intestinais , Oftalmologistas , Humanos , Doenças Inflamatórias Intestinais/complicações , Doenças Inflamatórias Intestinais/diagnóstico , Projetos Piloto , Qualidade de Vida , Inquéritos e Questionários
16.
Hum Mutat ; 40(8): 1145-1155, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31058429

RESUMO

Achromatopsia (ACHM) is a hereditary cone photoreceptor disorder characterized by the inability to discriminate colors, nystagmus, photophobia, and low-visual acuity. Six genes have been associated with this rare autosomal recessively inherited disease, including the GNAT2 gene encoding the catalytic α-subunit of the G-protein transducin which is expressed in the cone photoreceptor outer segment. Out of a cohort of 1,116 independent families diagnosed with a primary clinical diagnosis of ACHM, we identified 23 patients with ACHM from 19 independent families with likely causative mutations in GNAT2, representing 1.7% of our large ACHM cohort. In total 22 different potentially disease-causing variants, of which 12 are novel, were identified. The mutation spectrum also includes a novel copy number variation, a heterozygous duplication of exon 4, of which the breakpoint matches exactly that of the previously reported exon 4 deletion. Two patients carry just a single heterozygous variant. In addition to our previous study on GNAT2-ACHM, we also present detailed clinical data of these patients.


Assuntos
Defeitos da Visão Cromática/genética , Proteínas Heterotriméricas de Ligação ao GTP/genética , Mutação , Análise de Sequência de DNA/métodos , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Variações do Número de Cópias de DNA , Éxons , Feminino , Predisposição Genética para Doença , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Linhagem , Adulto Jovem
18.
Graefes Arch Clin Exp Ophthalmol ; 257(8): 1687-1698, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31147842

RESUMO

PURPOSE: Retinal and choroidal microvascular changes can be related to renal impairment in hypertension and chronic kidney disease (CKD). The study examines the association between retinochoroidal parameters and renal impairment in hypertensive, non-diabetic patients. METHODS: This is a cross-sectional study on Caucasian patients with systemic arterial hypertension with different levels of renal function. All subjects were studied by blood chemistry, urine examination, microalbuminuria and blood pressure. Complete eye examination was completed with swept source optical coherence tomography (SS-OCT) and optical coherence tomography angiography (OCTA) scans of macular region. Patients were divided in groups: LowGFR and HighGFR and CKD- and CKD+, according to the value of glomerular filtrate (GFR) and albuminuria. LowGFR and CKD+ groups included patients with clinical kidney impairment. RESULTS: One hundred and twenty eyes of 120 hypertensive patients were evaluated. The mean retinal thickness was thinner in CKD+ versus CKD- group (p < 0.009). LowGFR and CKD+ groups showed thinner choroidal values than HighGFR (p < 0.02) and CKD- (p < 0.001) groups. OCTA showed lower density in LowGFR than in HighGFR group (p < 0.001) and in CKD+ versus CKD- group (p < 0.001). Albuminuria was inversely related to choroidal and retinal thickness measures (p < 0.001) and to the indices of superficial parafoveal (p < 0.05) and foveal (p < 0.05) vascular densities. CONCLUSIONS: CKD is associated with retinal thinning, eGFR and decreasing renal function with progressive reduction of choroidal and retinal vascular density. SS-OCT and OCTA documented close association between CKD and reduction of both choroidal thickness and paracentral retinal vascular density in hypertensive patients.


Assuntos
Corioide/irrigação sanguínea , Angiofluoresceinografia/métodos , Insuficiência Renal Crônica/complicações , Doenças Retinianas/diagnóstico , Vasos Retinianos/patologia , Tomografia de Coerência Óptica/métodos , Adolescente , Adulto , Idoso , Estudos Transversais , Progressão da Doença , Feminino , Fundo de Olho , Humanos , Hipertensão/complicações , Hipertensão/diagnóstico , Masculino , Pessoa de Meia-Idade , Insuficiência Renal Crônica/diagnóstico , Doenças Retinianas/etiologia , Estudos Retrospectivos , Adulto Jovem
19.
J Wound Care ; 28(10): 683-693, 2019 Oct 02.
Artigo em Inglês | MEDLINE | ID: mdl-31600106

RESUMO

Nutrition can be outlined in terms of epigenetic signals influencing each of the wound healing steps (haemostasis, inflammatory, proliferative and remodelling phase). Specific nutrients, such as amino acids, minerals, vitamins, natural compounds and herbal extracts, target DNA-regulating transcription factors, cytokines, extracellular matrix proteins and glycosaminoglycan, and are specifically involved in the wound healing process. This review focuses on experimental in vivo and clinical evidence of dietary supplements administration in pressure ulcers. A good nutritional status is, for example, fundamental to the haemostasis phase of skin wounds. In the inflammatory phase, vitamin A enhances cytokine release, bromelain and amino acids prevent prolonged inflammatory events, while vitamin C enhances neutrophil migration and lymphocyte activation. In the proliferative phase, vitamin C and Centella asiatica are required for collagen synthesis. Glucosamine enhances hyaluronic acid production, vitamin A promotes epithelial cell differentiation, zinc is required for DNA and protein synthesis and cell division, and Aloe vera supports granulation tissue generation. Finally, in the remodelling phase, amino acids and proteins play a key role in wound scar stabilisation.


Assuntos
Suplementos Nutricionais , Estado Nutricional , Úlcera por Pressão , Cicatrização , Humanos
20.
Isr Med Assoc J ; 19(2): 79-84, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28457055

RESUMO

BACKGROUND: Cannabidiol (CBD)-based treatments for several diseases, including Tourette's syndrome, multiple sclerosis, epilepsy, movement disorders and glaucoma, are proving to be beneficial and the scientific clinical background of the drug is continuously evolving. OBJECTIVES: To investigate the short-term effect of CBD-enriched hemp oil for relieving symptoms and improving the life quality (QOL) in young girls with adverse drug effects (ADRs) following human papillomavirus (HPV) vaccine. METHODS: In this anecdotal, retrospective, "compassionate-use", observational, open-label study, 12 females (age 12-24 years) with severe somatoform and dysautonomic syndrome following HPV vaccination were given sublingual CBD-rich hemp oil drops, 25 mg/kg per day supplemented by 2-5 mg/ml CBD once a week until a maximum dose of 150 mg/ml CBD per day was reached over a 3 month period. Patients' quality of life was evaluated using the medical outcome short-form health survey questionnaire (SF-36). RESULTS: Two patients dropped out due to iatrogenic adverse events and another two patients stopped the treatment early due to lack of any improvement. SF-36 showed significant benefits in the physical component score (P < 0.02), vitality (P < 0.03) and social role functioning (P < 0.02) after the treatment. The administration of hemp oil also significantly reduced body pain according to the SF-36 assessment. No significant differences from the start of treatment to several months post-treatment were detected in role limitations due to emotional reactions (P = 0.02). CONCLUSIONS: This study demonstrated the safety and tolerability of CBD-rich hemp oil and the primary efficacy endpoint. Randomized controlled trials are warranted to characterize the safety profile and efficacy of this compound.


Assuntos
Canabidiol/administração & dosagem , Vacinas contra Papillomavirus/efeitos adversos , Disautonomias Primárias , Qualidade de Vida , Transtornos Somatoformes , Administração Sublingual , Adolescente , Sistema Nervoso Autônomo , Canabidiol/efeitos adversos , Agonistas de Receptores de Canabinoides/administração & dosagem , Agonistas de Receptores de Canabinoides/efeitos adversos , Cannabis , Relação Dose-Resposta a Droga , Esquema de Medicação , Monitoramento de Medicamentos , Feminino , Humanos , Itália , Vacinas contra Papillomavirus/administração & dosagem , Óleos de Plantas/administração & dosagem , Disautonomias Primárias/diagnóstico , Disautonomias Primárias/etiologia , Disautonomias Primárias/psicologia , Disautonomias Primárias/terapia , Estudos Retrospectivos , Transtornos Somatoformes/diagnóstico , Transtornos Somatoformes/etiologia , Transtornos Somatoformes/psicologia , Transtornos Somatoformes/terapia , Resultado do Tratamento , Adulto Jovem
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