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1.
BMC Cancer ; 24(1): 183, 2024 Feb 07.
Artigo em Inglês | MEDLINE | ID: mdl-38326766

RESUMO

BACKGROUND: Lung cancer (LC) has poor survival outcomes mainly due to diagnosis at late stages. This study explored the anticipated time to seek medical advice for possible LC symptoms and barriers to early presentation in Palestine. METHODS: This cross-sectional study recruited adult participants from hospitals, primary healthcare centers, and public spaces of 11 governorates using convenience sampling. A modified, translated-into-Arabic version of the validated LC awareness measure was used to assess LC symptom awareness, the time needed to seek medical advice and barriers to early presentation. RESULTS: A total of 4762 participants were included. The proportion that would immediately seek medical advice for possible LC symptoms varied according to the symptoms' nature. For respiratory symptoms, this ranged from 15.0% for 'painful cough' to 37.0% for 'coughing up blood'. For non-respiratory symptoms, this ranged from '4.2% for 'unexplained loss of appetite' to 13.8% for 'changes in the shape of fingers or nails'. Participants with good LC symptom awareness were more likely to seek medical advice within a week of recognizing most LC symptoms. About 13.0% would delay their visit to see a doctor after recognizing an LC symptom. The most reported barriers were emotional with 'disliking the visit to healthcare facilities' (59.8%) as the leading barrier. CONCLUSION: LC respiratory symptoms were more likely to prompt early seeking of medical advice. Good LC symptom awareness was associated with a higher likelihood of help-seeking within a week. Educational interventions are needed to promote LC awareness and address the perceived barriers to early presentation in low-resource settings, such as Palestine.


Assuntos
Neoplasias Pulmonares , Humanos , Adulto , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/epidemiologia , Estudos Transversais , Conhecimentos, Atitudes e Prática em Saúde , Projetos de Pesquisa , Emoções , Aceitação pelo Paciente de Cuidados de Saúde/psicologia
2.
Breast Cancer Res ; 24(1): 64, 2022 09 29.
Artigo em Inglês | MEDLINE | ID: mdl-36175970

RESUMO

BACKGROUND: Papillomas of the breast pose challenges for treatment decisions as their risk for transformation to breast cancer is low but not negligible. To spare low-risk patients the burden of substantial treatment side effects, prognostic indicators are needed for cancerous progression. The secreted metastasis mediator Osteopontin (OPN) is a marker for breast cancer aggressiveness, and its variants are prognosticators for transformation in diverse premalignant breast lesions. Here, we test whether the presence of OPN-c or OPN-exon-4 in papillomatous lesions may reflect progression risk. METHODS: By immunohistochemistry, we analyze OPN-c and OPN-exon-4 in papillomas from 114 women as well as correlations between staining and progression. In departure from prior spliced OPN biomarker publications, we utilize novel monoclonal antibodies. RESULTS: Fewer than 5% of OPN-c pathology score 0-1 (intensity) versus almost 18% of score 2-3 experienced cancer in follow-up. Nine of 12 women, who progressed, had pathology scores of 2-3 for OPN-c intensity at the time of initial diagnosis, and none had a score of 0. When developing a combined risk score from intensity plus percent positivity for OPN-c, the progression risk for patients with low score was 3.2%, for intermediate score was 5.7%, and for high score was 18.8%. Papillomas in patients, who were later diagnosed with cancer in the contralateral breast, displayed stronger staining positivity than non-progressors. CONCLUSION: OPN splice variant immunohistochemistry on biopsies of breast papillomas will allow counseling of the patients on their risk to develop breast cancer at a later time.


Assuntos
Neoplasias da Mama , Papiloma , Anticorpos Monoclonais , Neoplasias da Mama/genética , Neoplasias da Mama/patologia , Feminino , Humanos , Osteopontina/genética , Prognóstico
3.
Clin Lab ; 68(1)2022 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-35023678

RESUMO

BACKGROUND: Measurable residual disease (MRD) in plasma cell myeloma is one of the most important determinants for patients' outcome. Several laboratory tests exist to assess for the presence of MRD with variable accuracy. The aim of this study is to examine the sensitivity of immunofixation electrophoresis (IFE), serum free light chain (FLC), bone marrow immunohistochemistry (IHC), and multicolor flow cytometry (FC) and to address potential caveats of each test. METHODS: Forty patients of plasma cell myeloma who were diagnosed with a positive MRD were retrospectively included in this study. The results of IFE and serum FLC at the time of bone marrow biopsy were collected. RESULTS: In all cases, malignant plasma cells constituted less than 5% of bone marrow cells. MRD was detected by FC in 38 cases (95%) and by IHC in 28 cases (70%). In 2 cases, residual malignant plasma cells appeared in the subcortical area which is difficult to aspirate, and thus they were detected by IHC but not by FC. Among the entire cohort, 38 patients (95%) had positive IFE at the time of bone marrow biopsy, while serum FLC abnormality was detected in 19 patients (48%) only. CONCLUSIONS: Both FC and IFE exhibited high sensitivity in detecting MRD in plasma cell myeloma with comparable results. IFE remains less invasive and less expensive than FC. Despite the lower sensitivity of bone marrow IHC staining, its diagnostic role is essential and can be superior to FC in a subset of cases, for which its routine examination is recommended. Serum FLC test provided the least sensitivity among all tests.


Assuntos
Mieloma Múltiplo , Citometria de Fluxo , Humanos , Imunoeletroforese , Cadeias Leves de Imunoglobulina , Mieloma Múltiplo/diagnóstico , Estudos Retrospectivos
4.
Graefes Arch Clin Exp Ophthalmol ; 260(7): 2353-2359, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35099601

RESUMO

PURPOSE: Ascertain the 1-year outcome of patients who sustained open eye injuries from the Beirut Port ammonium nitrate (AN) explosion, one of the most powerful non-nuclear explosions in history. METHODS: Retrospective chart review of the operated eyes in 2 major eye hospitals. RESULTS: Out of 42 patients with open globe injury that was originally sutured, 29 patients (34 eyes) were followed at the 1-year mark. The initial vision in logMAR (mean ± SD) was 2.93 ± 0.87 (hand motion equivalent) and the final vision was 1.80 ± 1.47 (counting finger 2 m equivalent). No light perception (NLP) vision was noted in 12 eyes on presentation and 10 eyes remained so, while 2 eyes reached light perception (LP) vision. Eight eyes had an intraoperative expulsive choroidal hemorrhage (7 NLP and 1 LP both pre- and postoperatively), and 6 of the 8 developed phthisis. All eyes that developed phthisis had NLP preoperatively and postoperatively. Ocular Trauma Score (OTS) correlated inversely with both initial and final vision (p < 0.001). Zone of injury inversely correlated with initial vision (p = 0.02) and positively with final vision (p < 0.001). Final vision was significantly worse in zone 3 vs. zones 1 and 2 (3.2 ± 0.5) vs. 0.9 ± 1.1) (p < 0.001) injuries, as was the initial vision (3.3 ± 0.5 vs. 2.7 ± 0.8; p = 0.002). CONCLUSION: The OTS, which provides prognostic information for serious ocular trauma, also yields valuable prognostic information for AN-associated ocular injuries. Expulsive choroidal hemorrhage and NLP vision at presentation remain very poor prognostic signs.


Assuntos
Hemorragia da Coroide , Ferimentos Oculares Penetrantes , Traumatismos Oculares , Explosões , Traumatismos Oculares/diagnóstico , Traumatismos Oculares/cirurgia , Ferimentos Oculares Penetrantes/diagnóstico , Ferimentos Oculares Penetrantes/cirurgia , Humanos , Nitratos , Prognóstico , Estudos Retrospectivos , Sobreviventes , Acuidade Visual
5.
Graefes Arch Clin Exp Ophthalmol ; 260(10): 3173-3183, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-35467125

RESUMO

PURPOSE: To analyze the recovery course of foveal microstructures in eyes with nonsurgical healing of full-thickness macular hole (FTMH). METHODS: By serial OCT scans, the temporal healing sequences were analyzed in ocular trauma, vitreomacular traction (VMT), cystoid macular edema (CME), and the remaining group. We evaluated correlations between the final best-corrected spectacle visual acuity and reconstruction time of external limiting membrane (ELM), and inner segment/outer segment (IS/OS). RESULTS: The healing (mean±standard deviation in months) most involved fusion at the level of the outer nuclear layer (ONL) (6.3±10.5) followed by restoration of ELM (9.1±13.8), and lastly, by IS/OS regeneration (13.1±19.5). In severe blunt ocular trauma, healing was fast and involved subretinal zipper glue-like reapposition with resulting outer retinal atrophy. Best spectacle-corrected visual acuity correlated with normalization of the clivus (p=0.012), faster ELM (p=0.006), and IS/OS reconstitution (p=0.024). Recurrence of FTMH occurred when the healing was halted (3 eyes) or was aberrant by lamellar hole epiretinal proliferation (LHEP) (3 eyes) or by the persistence of VMT (1 eye). CONCLUSION: Recovery sequences proceeded from the ONL to the deeper layers with BCVA correlating absolutely and temporally with the restoration of outer retinal layer integrity.


Assuntos
Perfurações Retinianas , Fóvea Central , Humanos , Perfurações Retinianas/diagnóstico , Perfurações Retinianas/cirurgia , Estudos Retrospectivos , Tomografia de Coerência Óptica , Transtornos da Visão , Acuidade Visual , Vitrectomia
6.
BMC Pulm Med ; 22(1): 135, 2022 Apr 08.
Artigo em Inglês | MEDLINE | ID: mdl-35395762

RESUMO

BACKGROUND: The majority of lung cancer (LC) cases are diagnosed at an advanced stage. Poor awareness of LC symptoms is a contributor to late diagnosis. This study aimed to assess the awareness of LC symptoms among Palestinians, and to examine the factors associated with displaying good awareness. METHODS: Participants were recruited from hospitals, primary healthcare centers and public spaces using convenience sampling. A translated-into-Arabic version of the validated LC awareness measure was used to assess recognition of 14 LC symptoms. One point was given for each recognized symptom. The total score was calculated and categorized based on the number of symptoms recognized: poor (0-4), fair (5-9), and good (10-14). Multivariable logistic regression was used to examine the association between participant characteristics and having good awareness. The multivariable analysis adjusted for age-group, gender, education, monthly income, occupation, residence, marital status, any chronic disease, knowing someone with cancer, smoking history, and site of data collection. RESULTS: Of 5174 potential participants approached, 4817 completed the questionnaire (response rate = 93.1%) and 4762 were included in the final analysis. Of these, 2742 (56.9%) were from the West Bank and Jerusalem (WBJ) and 2020 (43.1%) were from the Gaza Strip. Participants from the WBJ were older, had higher monthly income but lower education, and suffered from more chronic diseases. The most recognized respiratory LC symptom was 'worsening in an existing cough'(n = 3884, 81.6%) while the least recognized was 'a cough that does not go away for two or three weeks'(n = 2951, 62.0%). The most recognized non-respiratory LC symptom was 'persistent tiredness or lack of energy'(n = 3205, 67.3%) while the least recognized was 'persistent shoulder pain'(n = 1170, 24.6%). A total of 2466 participants (51.8%) displayed good awareness of LC symptoms. Participants from both the Gaza Strip and the WBJ had similar likelihoods to have good awareness levels. Factors associated with a higher likelihood to display good awareness included female gender, having post-secondary education, being employed, knowing someone with cancer, and visiting hospitals and primary healthcare centers. CONCLUSION: About half of the study participants displayed a good level of awareness of LC symptoms. Further improvement in public awareness of LC symptoms by educational interventions might reduce LC mortality by promoting early diagnosis.


Assuntos
Árabes , Neoplasias Pulmonares , Tosse , Estudos Transversais , Feminino , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/epidemiologia , Inquéritos e Questionários
7.
Int J Psychiatry Clin Pract ; 26(3): 234-243, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34709105

RESUMO

OBJECTIVE: This meta-analysis aims to estimate the pooled prevalence of mental disorders among COVID-19 survivors. METHODS: The databases Pubmed, Google Scholar, ScienceDirect, and medRxiv have been searched up to 1 August 2021 using COVID-19, survivors, mental disorders, and their related MeSH terms. The included studies were either cross-sectional, cohort, or case-control in design. Those studies included COVID-19 survivors after 14 or more days from their COVID-19 recovery and used validated questionnaires to assess their mental health outcomes. The random-effects model was used to pool the data from the incorporated studies. The heterogeneity was assessed using Cochran's Q heterogeneity test and I2 statistic. RESULTS: Twenty-seven studies were included in the data synthesis with a total sample size of 9605 COVID-19 survivors. The prevalence rates for Post-Traumatic Stress Disorder (PTSD), anxiety, psychological distress, depression, and sleeping disorders were 20% (95% CI = 16-24%), 22% (95% CI = 18-27%), 36% (95% CI = 22-51%), 21% (95% CI = 16-28%), and 35% (95% CI = 29-41%), respectively. CONCLUSIONS: Although we found high heterogeneity across the included studies, our meta-analysis provides evidence that there are psychological sequelae in COVID-19 survivors that require medical assiduity as well as further research on the matter.KEY POINTSIncreased prevalence of psychological sequelae among COVID-19 survivors.The prevalence of PTSD was 20% (95% CI = 16-24%) and of anxiety was 22% (95% CI = 18-27%) among COVID-19 survivors.The prevalence of psychological distress was 36% (95% CI = 22-51%), of depression was 21% (95% CI = 16-28%), and of sleep disorders was 35% (95% CI = 29-41%) among COVID-19 survivors.Future researches are recommended to search for effective and safe methods to mitigate the psychological sequelae in COVID-19 patients.


Assuntos
COVID-19 , Transtornos de Estresse Pós-Traumáticos , Humanos , COVID-19/epidemiologia , Estudos Transversais , Sobreviventes/psicologia , Transtornos de Estresse Pós-Traumáticos/epidemiologia , Transtornos de Estresse Pós-Traumáticos/psicologia , Ansiedade/epidemiologia , Prevalência , Depressão/epidemiologia
8.
Rheumatol Int ; 41(12): 2157-2166, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34661710

RESUMO

Temporal artery biopsy (TAB) is one of the diagnostic tools to confirm the diagnosis of giant cell arteritis (GCA). We aim to evaluate the clinical and technical determinants of a positive biopsy. Demographics, clinical, technical, and laboratory data of all TAB's performed between 2007 and 2019 at a single academic medical center. 107 biopsies performed for 103 patients were included; 72.9% were female, and 27.1% were male. The mean age at the time of biopsy was 67.1 ± 9.3 years. One biopsy was excluded for lack of arterial tissue content. Of the remaining 106, 19.6% were positive. The length of the biopsy and the number of arterial cross-sections were not significantly associated with its result. A positive biopsy was seen more in patients with low albumin (p = 0.010) and hypothyroidism (p = 0.017) but less in those with prior glucocorticoids treatment (p = 0.028). Predictors of a positive biopsy included male gender [OR 4.029, 95% CI (1.330-12.209), p = 0.014]; elevated ESR [OR 3.998, 95% CI (1.908-6.787), p = 0.023]; polymyalgia rheumatica (PMR) symptoms [OR 5.121, 95% CI (2.094-9.872), p = 0.001]; and advancing in age (6.5% per every additional year), [OR 1.065, 95% CI (1.005-1.130), p = 0.033]. 53.7% of the patients were eventually diagnosed with GCA; 39.2% of them were based on positive biopsy. In conclusion, old age, male gender, elevated ESR, and PMR symptoms increase the odds of positive TAB. Technical factors, such as biopsy length and the number of cross-sections, did not influence eventual biopsy results, highlighting the pivotal role of the clinical presentation of the patients in selecting patients for TAB.


Assuntos
Arterite de Células Gigantes/diagnóstico , Artérias Temporais/patologia , Idoso , Biópsia/métodos , Feminino , Arterite de Células Gigantes/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos
9.
Ann Diagn Pathol ; 55: 151810, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34482217

RESUMO

The diagnosis of myelodysplastic syndrome (MDS) relies primarily on identifying peripheral blood cytopenia and morphologic dysplasia as well as detecting cytogenetic aberrations in a subset of patients. Accumulating data points to the importance of examining certain immunophenotypic changes characteristic of MDS, most of which are tested by flow cytometry. The role of immunohistochemistry in the diagnostic workup of MDS is less known. In this study, we used immunohistochemistry to survey the expression patterns of CD177, P53, CD105 and c- kit in a cohort of MDS bone marrow specimens (n = 57) and compared the results with a control group of patients who had cytopenia for other benign conditions (n = 49). MDS cases showed significant higher rates of: CD177-loss (13/57, 23% vs 1/49, 2%; P = .0016), P53 overexpression (8/57, 14% vs none; P = .005) and the presence of clusters of CD105-positive cells (6/57, 11% vs none; P = .021). Increased c-kit-positive cells was more common in MDS patients, but not statistically significant (17/57, 30% vs 8/49, 16%; P = .102). On multivariate analysis, only loss of CD177 expression was significantly higher in MDS group (P = .014). These findings suggest that a panel of immunohistochemical stains could serve as an adjunct tool in investigating unexplained cytopenias and warrant further comparative studies with flow cytometry.


Assuntos
Imuno-Histoquímica , Síndromes Mielodisplásicas , Biomarcadores Tumorais/análise , Biomarcadores Tumorais/metabolismo , Medula Óssea/metabolismo , Medula Óssea/patologia , Aberrações Cromossômicas , Estudos de Coortes , Citodiagnóstico , Endoglina/análise , Endoglina/metabolismo , Proteínas Ligadas por GPI/análise , Proteínas Ligadas por GPI/metabolismo , Imunofenotipagem , Isoantígenos/análise , Isoantígenos/metabolismo , Síndromes Mielodisplásicas/diagnóstico , Síndromes Mielodisplásicas/metabolismo , Proteínas Proto-Oncogênicas c-kit/análise , Proteínas Proto-Oncogênicas c-kit/metabolismo , Receptores de Superfície Celular/análise , Receptores de Superfície Celular/metabolismo , Trombocitopenia/metabolismo , Proteína Supressora de Tumor p53/análise , Proteína Supressora de Tumor p53/metabolismo
10.
Retina ; 39(6): 1133-1141, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29505440

RESUMO

PURPOSE: There is no established therapy for exudative-hemorrhagic complications in primary retinal arteriolar macroaneurysm (RAM). METHODS: Retrospective multicenter interventional study of anti-vascular endothelial growth factor in symptomatic RAMs. Central macular thickness in µm and best-corrected visual acuity in logMar were correlated with the RAM size and distance to the macula. Statistical analyses were performed using paired comparisons and Pearson correlation. RESULTS: Thirty-two eyes (32 patients) were treated with a mean of 2.7 injections over a mean follow-up of 16.6 months. Initial best-corrected visual acuity correlated with the RAM size and distance to the macula (P = 0.02). Central macular thickness decreased by 131,180, and 211 µm at 1, 2, and 3 months after the first injection (P < 0.001). Best-corrected visual acuity improved by 0.47 and 0.38 Early Treatment Diabetic Retinopathy Study lines at 2 and 3 months (P = 0.005). Anti-vascular endothelial growth factor response correlated with the RAM size (P = 0.04) and the distance to the macula (P = 0.009). CONCLUSION: Symptomatic RAMs can be treated successfully with anti-vascular endothelial growth factor injections, leading to a decrease in macular edema.


Assuntos
Bevacizumab/administração & dosagem , Macula Lutea/patologia , Ranibizumab/administração & dosagem , Receptores de Fatores de Crescimento do Endotélio Vascular/administração & dosagem , Proteínas Recombinantes de Fusão/administração & dosagem , Macroaneurisma Arterial Retiniano/tratamento farmacológico , Acuidade Visual , Inibidores da Angiogênese/administração & dosagem , Quimioterapia Combinada , Exsudatos e Transudatos , Angiofluoresceinografia , Seguimentos , Fundo de Olho , Humanos , Injeções Intravítreas , Receptores de Fatores de Crescimento do Endotélio Vascular/antagonistas & inibidores , Macroaneurisma Arterial Retiniano/diagnóstico , Estudos Retrospectivos , Tomografia de Coerência Óptica , Resultado do Tratamento
11.
Ann Diagn Pathol ; 40: 72-76, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31075666

RESUMO

Primary mediastinal large B-cell lymphoma (PMBL) and classic Hodgkin lymphoma (CHL) are the most common large cell lymphomas arising in the mediastinum and are thought to be closely related histogenetically. Although the distinction between PMBL and CHL is usually straightforward, in some cases it is challenging and rarely these neoplasms have intermediate features and qualify for the diagnosis of mediastinal gray zone lymphoma (GZL). CD83 and fascin are markers of CHL and CD23 is a marker of PMBL. In this study we assess the utility of this combination of these immunohistochemical markers to distinguish CHL from PMBL. We retrospectively collected cases of PMBL, CHL and GZL from three centers. Tissue sections were stained with CD83, fascin and CD23. CD83 was expressed in the neoplastic cells of 100% of CHL (22/22), 93% of GZL (16/18) and 41% of PMBL (9/22). Similarly, fascin was positive in the neoplastic cells of 100% of CHL (22/22), 86% of GZL (18/21) and 32% of PMBL (7/22). CD23 was positive in 95% of PMBL (21/22), 67% of GZL (12/18) and 9% of CHL (2/22). CD83 and fascin are sensitive markers for CHL but not specific whereas CD23 is sensitive for PMBL and uncommon in CHL. The GZL cases in this study had an intermediate immunophenotype, but the results were closer to CHL than PMBL. A large panel of immunohistochemical studies is recommended to distinguish CHL from PMBL entities and we suggest that CD83, fascin and CD23 add value to panels designed for this differential diagnosis.


Assuntos
Biomarcadores Tumorais/metabolismo , Doença de Hodgkin/diagnóstico , Linfoma Difuso de Grandes Células B/diagnóstico , Neoplasias do Mediastino/diagnóstico , Antígenos CD/metabolismo , Proteínas de Transporte/metabolismo , Diagnóstico Diferencial , Doença de Hodgkin/metabolismo , Doença de Hodgkin/patologia , Humanos , Imunoglobulinas/metabolismo , Imuno-Histoquímica , Imunofenotipagem , Linfoma Difuso de Grandes Células B/metabolismo , Linfoma Difuso de Grandes Células B/patologia , Neoplasias do Mediastino/metabolismo , Neoplasias do Mediastino/patologia , Glicoproteínas de Membrana/metabolismo , Proteínas dos Microfilamentos/metabolismo , Receptores de IgE/metabolismo , Estudos Retrospectivos , Antígeno CD83
12.
Retina ; 38(2): 416-423, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28221257

RESUMO

PURPOSE: To report the clinical outcome after intravitreal dexamethasone implant in patients with retinitis pigmentosa and cystoid macular edema. METHODS: Multicenter retrospective case series of eyes with retinitis pigmentosa and cystoid macular edema that underwent intravitreal dexamethasone implant. Primary outcome measures were best-corrected visual acuity in LogMAR and central macular thickness. Statistical analyses used two-tailed comparison with Wilcoxon signed-rank test. RESULTS: There were a total of 45 eyes from 34 patients with a mean age of 32.7 years (range 16-57) and mean follow-up of 15.5 ± 13.0 months. At Month 3 after the first injection, mean initial best-corrected visual acuity improved from 0.61 ± 0.38 (20/81) to 0.37 ± 0.16 (20/47) (P = 0.012), whereas mean central macular thickness (µm) decreased from 506 ± 288 µm to 311.7 ± 71.6 µm (P < 0.001) and mean intraocular pressure increased from 15.7 ± 2.3 mmHg to 19.8 ± 11.0 mmHg (P = 0.01). Fourteen eyes had multiple injections (1-7 reinjections) at a mean interval of 6 months. Treatment effect was durable with multiple injections, but with seven eyes developing visually significant cataracts. CONCLUSION: Best-corrected visual acuity improved up to 4 months in around half of the eyes. Eyes that benefited the most were pseudophakic, steroid nonresponsive, with large initial central macular thickness, and profuse fluorescein dye leakage.


Assuntos
Dexametasona/administração & dosagem , Macula Lutea/patologia , Edema Macular/tratamento farmacológico , Retinose Pigmentar/complicações , Acuidade Visual , Adolescente , Adulto , Relação Dose-Resposta a Droga , Implantes de Medicamento , Feminino , Seguimentos , Glucocorticoides/administração & dosagem , Humanos , Injeções Intravítreas , Macula Lutea/efeitos dos fármacos , Edema Macular/diagnóstico , Edema Macular/etiologia , Masculino , Pessoa de Meia-Idade , Retinose Pigmentar/diagnóstico , Retinose Pigmentar/tratamento farmacológico , Estudos Retrospectivos , Fatores de Tempo , Tomografia de Coerência Óptica , Resultado do Tratamento , Adulto Jovem
13.
Am J Hum Genet ; 94(5): 755-9, 2014 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-24768550

RESUMO

We have previously described a syndrome characterized by facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs (FDLAB, or Traboulsi syndrome). In view of the consanguineous nature of the affected families and the likely autosomal-recessive inheritance pattern of this syndrome, we undertook autozygosity mapping and whole-exome sequencing to identify ASPH as the disease locus, in which we identified two homozygous mutations. ASPH encodes aspartyl/asparaginyl ß-hydroxylase (ASPH), which has been found to hydroxylate aspartic acid and asparagine residues on epidermal growth factor (EGF)-domain-containing proteins. The truncating and missense mutations we identified are predicted to severely impair the enzymatic function of ASPH, which suggests a possible link to other forms of ectopia lentis given that many of the genes implicated in this phenotype encode proteins that harbor EGF domains. Developmental analysis of Asph revealed an expression pattern consistent with the proposed link to the human syndrome. Indeed, Asph-knockout mice had a foreshortened snout, which corresponds to the facial abnormalities in individuals with Traboulsi syndrome. These data support a genetic basis for a syndromic form of ectopia lentis and the role of aspartyl hydroxylation in human development.


Assuntos
Segmento Anterior do Olho/anormalidades , Proteínas de Ligação ao Cálcio/genética , Anormalidades Craniofaciais/genética , Ectopia do Cristalino/genética , Iris/anormalidades , Proteínas de Membrana/genética , Oxigenases de Função Mista/genética , Proteínas Musculares/genética , Sequência de Aminoácidos , Animais , Segmento Anterior do Olho/enzimologia , Anormalidades Craniofaciais/enzimologia , Análise Mutacional de DNA , Ectopia do Cristalino/enzimologia , Fator de Crescimento Epidérmico/química , Exoma/genética , Feminino , Humanos , Iris/enzimologia , Camundongos , Camundongos Knockout , Dados de Sequência Molecular , Linhagem , Estrutura Terciária de Proteína/genética , Síndrome , Adulto Jovem
16.
Retina ; 35(12): 2489-97, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26110597

RESUMO

PURPOSE: To report clinical characteristics and treatment outcomes from the largest case series of choroidal neovascularization secondary to central serous chorioretinopathy. METHODS: Retrospective analysis of 46 eyes of 43 consecutive subjects. Collected data included demographic details, history of presenting illness, clinical examination details including visual acuity at presentation and follow-up with imaging and treatment details. Main outcome measures were the proportion of eyes that had improved (3 or more lines), stable (within ±1 line), or decreased (3 or more lines) vision at the final visit as compared with baseline examination. Secondary efficacy outcomes included change in visual acuity at final follow-up, number of injections, treatment-free interval, and adverse events. RESULTS: Mean age was 57.56 years (range 29-79 years). Mean follow-up duration was 38.3 months ± 58.9 months. More than 3 lines of improvement in 12 eyes (26%), vision was stable (within ±1 line) in 19 eyes (41.3%), and >3 lines of loss was noted in 6 eyes (13%). Mean change in the number of lines was 1.16 ± 3.74. Mean number of anti-vascular endothelial growth factor injections during the follow-up was 4.45 ± 4.1. The longest treatment-free interval was 8.9 months ± 7.5 months. There were no adverse events noted. CONCLUSION: Anti-vascular endothelial growth factor therapy as a primary therapy for choroidal neovascularization secondary to central serous chorioretinopathy is safe and efficacious, without any serious adverse events.


Assuntos
Inibidores da Angiogênese/administração & dosagem , Bevacizumab/administração & dosagem , Coriorretinopatia Serosa Central/complicações , Neovascularização de Coroide/tratamento farmacológico , Ranibizumab/administração & dosagem , Adulto , Idoso , Anticorpos Monoclonais Humanizados/administração & dosagem , Coriorretinopatia Serosa Central/tratamento farmacológico , Neovascularização de Coroide/etiologia , Feminino , Humanos , Injeções Intravítreas , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Tomografia de Coerência Óptica , Fator A de Crescimento do Endotélio Vascular/antagonistas & inibidores , Acuidade Visual
17.
Ophthalmology ; 121(10): 1925-32, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-24950591

RESUMO

PURPOSE: Paraproteinemia relates to monoclonal gammopathy-producing pathologic antibodies with serous macular detachment being an uncommon ocular manifestation. We ascertained the clinical course of maculopathy in paraproteinemia and investigated the effect of various therapeutic methods on the resolution of subretinal deposits. DESIGN: Multicenter, retrospective, observational case series. PARTICIPANTS: The records of patients with paraproteinemia with optical coherence tomography (OCT) documentation of serous macular detachment were reviewed. METHODS: Data collection included coexisting morbidity, rheology data (immunoglobulin level, hematocrit, and blood viscosity), clinical examination results, and OCT findings. MAIN OUTCOME MEASURES: Best-corrected visual acuity (BCVA), height and basal area of the serous macular detachment, and systemic versus local therapies. RESULTS: A total of 33 cases were collected: 10 new and 23 previously reported in the literature. Diabetes was present in 7 patients, systemic hypertension in 9 patients, and anemia in 18. Mean initial immunoglobulin level was 6497 mg/dl, and mean serum viscosity was 5.5 centipoise (cP). Mean logarithm of the minimum angle of resolution initial vs. final BCVA was 0.55 (Snellen equivalent, 20/71) vs. 0.45 (20/56) in the right eye and 0.38 (20/48) vs. 0.50 (20/63) in the left eye. After mean follow-up of 7 months (range, 0-51 months). Systemic therapies included plasmapheresis (18), chemotherapy (30), blood transfusions (2), transplantation of progenitor hematopoietic cells (2), and oral rituximab (10). Immunoglobulin levels normalized in 8 patients and were unchanged in 1 after plasmapheresis, chemotherapy, or both. Ocular therapy in 8 patients included vitrectomy (1), laser photocoagulation (4), intravitreal bevacizumab (5), intravitreal triamcinolone (2), intravitreal dexamethasone implant (1), intravitreal rituximab (1), and sub-Tenon corticosteroid (1). The maculopathy resolved partially or completely in 17 patients and worsened or remained unchanged in 14 patients over median follow-up of 7 months. Maculopathy was unilateral in 9 cases and occurred at a lower initial immunoglobulin level in diabetics. There was a positive correlation between area of the detachment and serum viscosity. CONCLUSIONS: Paraproteinemic maculopathy can be unilateral. Decreasing the blood immunoglobulin level is the primary goal of therapy for paraproteinemic maculopathy, and this can be achieved by a systemic route. Coexisting diabetes facilitates leakage of immunoglobulins at lower levels than in nondiabetics.


Assuntos
Degeneração Macular/etiologia , Paraproteinemias/complicações , Descolamento Retiniano/etiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Degeneração Macular/patologia , Masculino , Pessoa de Meia-Idade , Descolamento Retiniano/patologia , Estudos Retrospectivos , Tomografia de Coerência Óptica , Acuidade Visual
18.
Retina ; 34(10): 2044-52, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-24978669

RESUMO

PURPOSE: To evaluate safety and clinical results of intravitreal antiangiogenic agents for choroidal neovascularization in pediatric patients. METHODS: Retrospective, multicenter, interventional case series. A total of 45 eyes of 39 pediatric patients with choroidal neovascularization of various etiologies were treated with intravitreal injection of antiangiogenic agents (1.25 mg per 0.05 mL of bevacizumab or 0.5 mg per 0.05 mL of ranibizumab). RESULTS: There were 24 girls and 15 boys with group median age of 13 years (range, 3-17 years). Mean follow-up period was 12.8 months (range, 3-60 months). Median visual acuity in terms of logarithm of the minimum angle of resolution at presentation and last follow-up was 0.87 and 0.7, respectively (P = 0.0003). Mean and median number of injections received over the follow-up period was 2.2 and 1, respectively. At the last follow-up, 22 eyes (48%) gained more than 3 lines of vision and 27 eyes (60%) had final visual acuity 20/50 or better. Nine eyes (20%) did not improve and had severe vision loss (20/200 or worse). CONCLUSION: Intravitreal antiangiogenic therapy for choroidal neovascularization in pediatric patients seems temporarily safe and effective in majority of affected eyes. Because of the rarity and character of this condition, it is unlikely that any clinical trials will soon take place to study this or other treatment option.


Assuntos
Inibidores da Angiogênese/uso terapêutico , Neovascularização de Coroide/tratamento farmacológico , Adolescente , Anticorpos Monoclonais Humanizados/uso terapêutico , Bevacizumab , Criança , Pré-Escolar , Neovascularização de Coroide/diagnóstico , Neovascularização de Coroide/fisiopatologia , Feminino , Seguimentos , Humanos , Injeções Intravítreas , Masculino , Ranibizumab , Estudos Retrospectivos , Tomografia de Coerência Óptica , Resultado do Tratamento , Fator A de Crescimento do Endotélio Vascular/antagonistas & inibidores , Acuidade Visual/fisiologia
20.
Case Rep Ophthalmol ; 15(1): 284-291, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38566820

RESUMO

Introduction: Nanophthalmos is characterized by a short axial length, a thick choroid, and a thick sclera. Unilateral symptomatic disc swelling in nanophthalmos presents both a diagnostic and a therapeutic challenge. Case Presentation: A healthy 59-year-old man reported a two-week-long abrupt vision reduction in his right eye. 20/100 best spectacle (+17.25 diopter) corrected visual acuity, unilateral widespread disc enlargement, central scotoma, and a slight color vision disruption without an afferent pupillary defect were among the positive findings in the right eye. Workup for neuro-ophthalmology was negative. Numerous consultations did not suggest any form of treatment for the patient. Review of the optical coherence tomography (OCT) indicated a small, crowded optic nerve head and substantial diffuse choroidal thickening with dome-shaped temporal peripapillary area with choroidal expansion. In addition to circumferential anterior four-quadrant 95%-deep sclerectomy from recti insertion to the vortices, radial nasal posterior sclerotomy reaching the optic nerve sheath was performed on the patient. After the procedure, 2 weeks later, the patient's vision returned, and it persisted until the 6-month follow-up. By OCT, the two eyes were comparable as far as disc contour and nerve fiber layer thickness. Conclusion: This form of sclerectomy, which aims at decompressing the oncotic choroidal pressure, is an effective treatment for compressive optic neuropathy in the context of nanophthalmos. Could sclerectomy assist in treating other optic neuropathies associated with peripapillary pachychoroid?

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