RESUMO
Nasal natural killer/T-cell lymphoma (NK/TCL) is a rare form of malignant non-Hodgkin lymphoma (NHL) with a far more rare involvement of orbit. The orbital involvement has a highly variable clinical presentation. Here, we report one such case of a 40-year-old male patient who presented with swelling in the right upper and lower eyelids with the diminution of vision for 12 days. He had a history of blocked nose for two months. Clinical examination and CT scan of the orbit and paranasal sinuses suggested a diagnosis of right orbital cellulitis with pansinusitis. A combination of intravenous antibiotics was started, and functional endoscopic sinus surgery was done. Histopathology was a suggestive of nasal NK/TCLl NHL. After proper staging, the patient was given chemotherapy and radiotherapy. There was a complete resolution of mass with no recurrence over a follow-up of 10 months.
RESUMO
Background: The aim of the study was to evaluate the outcomes of voriconazole in terms of functional recovery and response on imaging in the management of invasive aspergillosis of orbit. Methods: This was a prospective non-comparative interventional study. Diagnosed cases of invasive orbital aspergillosis were studied in a tertiary care hospital. Intravenous voriconazole followed by oral treatment was given. Sinus debridement was done, where needed. The response to treatment was assessed clinically and on radiology. Results: A total of 10 diagnosed cases of invasive orbital aspergillosis were studied. Nine cases (90%) occurred in immunocompetent patients. Predisposing sinus infection was seen in 8 patients (80%). The most common presenting complaint was the protrusion of eye. On voriconazole treatment, there was a statistically significant improvement in vision and extraocular movements from first week onwards (p = 0.01 and p = 0.02, respectively) and reduction in proptosis from second week onwards (p = 0.003). Imaging was done at three months follow-up which revealed a good response to treatment in 90% of patients. All patients tolerated the drug well except one who had transient hepatic dysfunction. The mean follow-up was 5.8 months (range: 3-12 months). There was no recurrence of disease till the last follow-up. Conclusion: Invasive orbital aspergillosis commonly presents as sino-orbital disease, mostly in immunocompetent adult patients. Voriconazole is a safe and effective drug with good short-term clinical outcome.
RESUMO
OBJECTIVES: To study the thickness of levator palpebra superioris-Muller's muscle complex (LMC) on ultrasound biomicroscopy (UBM) and to correlate with the clinical response to botulinum toxin A (BTA) injection in patients with inactive-stage of thyroid-related upper eyelid retraction (UER). We also studied the correlation of clinical parameters, preinjection with postinjection values. METHODS: This was a prospective, interventional study. Patients with thyroid-related UER who underwent subconjunctival injection of BTA were recruited. Demographic data and clinical details were evaluated. UBM (50 MHz) was done to measure the thickness of LMC. Patient's satisfaction was graded at each follow-up. Follow-up was done at 1 week, 1 month, and 3 months' time intervals. RESULTS: A total of 13 patients were recruited and 26 eyes were divided into two groups; group 1 included eyes with UER (n = 17), and group 2 included eyes without UER (n = 9). There was a statistically significant reduction in margin reflex distance 1 (MRD1) after BTA injection at 1-week, 1-month, and 3-months follow-up with maximum reduction at 1 month. The mean LMC thickness of 26 eyes was 0.96 mm which was found to be significantly more than normal controls. On comparison of mean LMC thickness with the amount of UER and reduction in MRD1, we did not find a significant difference. CONCLUSIONS: Patients with TED have significantly thicker LMC on UBM than controls. Further studies are needed with a larger sample size on the correlation of UBM features of levator aponeurosis with response to BTA injection.
Assuntos
Toxinas Botulínicas Tipo A , Doenças Palpebrais , Humanos , Toxinas Botulínicas Tipo A/uso terapêutico , Glândula Tireoide , Microscopia Acústica , Estudos Prospectivos , Pálpebras/diagnóstico por imagem , Transtornos da VisãoRESUMO
PURPOSE: VEGF and HIF-1α are important regulators of angiogenesis, overexpressed in various tumors. Lacrimal gland Adenoid cystic carcinoma (ACC) is a malignant tumor whose angiogenic properties remain unexplored. This study was designed to evaluate the expression of HIF-1α and VEGF in lacrimal gland ACC. METHODS: VEGF and HIF-1α immunoexpression was undertaken in 30 lacrimal gland ACC cases. mRNA expression of VEGF and HIF-1α was analysed in 17 cases by quantitative real time PCR. The results obtained were correlated with clinicopathological features and survival of the patients to determine the prognostic significance. RESULTS: Immunoexpression of HIF-1α and VEGF was seen in 36.6% and 46.6% ACC cases. HIF-1α expression showed significant association with advanced T-stage (P = 0.001) and VEGF with intracranial extension (P = 0.014) and solid histological pattern (P = 0.045). HIF-1α mRNA expression was seen in 29.4% cases and showed significant association with perineural invasion (P = 0.027). Recurrence occurred in 60%, distant metastasis in 20% and death in 20% cases. Survival analysis revealed that patients with HIF-1α, VEGF immunoexpression, solid histological pattern, perineural invasion, bone erosion, intracranial extension, metastasis, advanced T-stage, and exenteration had poor survival. On multivariate analysis VEGF immunoexpression (hazard ratio, 16.785; 95% confidence interval, 1.872-150.495; P = 0.012) was the most significant poor prognostic factor. CONCLUSIONS: This study demonstrates that VEGF is a potential predictor for poor clinical outcome in lacrimal gland Adenoid cystic carcinoma.
Assuntos
Biomarcadores Tumorais/metabolismo , Carcinoma Adenoide Cístico/metabolismo , Neoplasias Oculares/metabolismo , Subunidade alfa do Fator 1 Induzível por Hipóxia/metabolismo , Doenças do Aparelho Lacrimal/metabolismo , Aparelho Lacrimal/metabolismo , Fator A de Crescimento do Endotélio Vascular/metabolismo , Adolescente , Adulto , Idoso , Carcinoma Adenoide Cístico/diagnóstico , Carcinoma Adenoide Cístico/mortalidade , Neoplasias Oculares/diagnóstico , Neoplasias Oculares/mortalidade , Feminino , Seguimentos , Humanos , Doenças do Aparelho Lacrimal/diagnóstico , Doenças do Aparelho Lacrimal/mortalidade , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Análise de Sobrevida , Adulto JovemRESUMO
Background: To highlight the clinical presentations and management outcomes of rhino-orbital mucormycosis during first wave of COVID-19 pandemic in North India. Methods: A retrospective observational study. 15 patients with mucormycosis (orbital disease) who presented during short span of 3 months (October-December 2020) in a tertiary-care referral institution were analysed. Results: At presentation, 13 of 15 patients had uncontrolled diabetes. Four had history of COVID-19 infection. All patients had advanced orbital disease with sinusitis; cavernous sinus involvement was in nine and intracranial spread in three patients. Liposomal amphotericin-B was started and prompt orbital exenteration with sinus surgery was performed in 12 patients. All 12 patients survived with an average follow-up of 4.8 months. Conclusion: In the present series, cases with orbital spread of mucormycosis were mostly found in non-COVID uncontrolled diabetics. Exenteration was done in 80% of cases with advanced orbital disease. Prevention and early detection of infection at the stage of sino-nasal involvement might help to prevent spread and/or halt the orbital disease.
RESUMO
Herein, the authors report a case of relapsing polychondritis (RP) presenting as isolated bilateral nodular episcleritis. A 23-year-old male presented to us with bilateral large ocular surface masses for which he had received antitubercular medications. A workup was performed to rule out infective, neoplastic, and immune etiologies, after which the patient was then treated empirically with systemic steroids. No response to steroids was noted, so the lesions were removed surgically. On follow up, he developed redness of both ears sparing the lobules. A biopsy from ear lesions supported the diagnosis of RP. At a follow up of 2 years, the patient is free of any ocular or systemic manifestation. To the best of the authors' knowledge, this is the first reported case of RP presenting with bilateral giant nodular episcleritis and treated successfully with surgery. A multidisciplinary approach is essential for the management of such cases. A long-term close follow up is vital for early detection of associated malignancies like multiple myeloma.
Assuntos
Policondrite Recidivante , Esclerite , Adulto , Biópsia , Humanos , Masculino , Policondrite Recidivante/complicações , Policondrite Recidivante/diagnóstico , Esclerite/diagnóstico , Adulto JovemRESUMO
BACKGROUND: Our aim is to detect the association of BAP1 with ATM protein with AJCC tumor category and its prognostic significance. METHODS: Based on AJCC tumor category, 69 patients samples were categorized into group A (LBD > 15 mm & tumor thickness ≥ 8 mm) and group B (LBD ≤ 15 mm & tumor thickness < 8 mm) subjected to immunohistochemistry to assess the nuclear expression of ATM and BAP1 proteins. Mutational analysis of BAP1 was performed on five samples from each group. RESULTS: Group A tumors showed insertion mutation of BAP1 gene while there was no mutation seen in group B tumor. At translational level loss of ATM and BAP1 was found in 65% and 66% of cases respectively. Loss of ATM with BAP1 was seen in 55% of cases which was more frequent in group A which was statically significant with metastasis (p = 0.006), advanced tumor staging (p = 0.021) and reduced metastasis-free survival (p = 0.048). On multivariate analysis loss of ATM along with BAP1 came out to be an independent prognostic marker (p = 0.035). CONCLUSION: Our data suggest that loss of BAP1 along with ATM might serve as a potential prognostic indicator in patients with an advanced AJCC tumor category, which leads to an increased risk of metastasis.
Assuntos
Proteínas Mutadas de Ataxia Telangiectasia/biossíntese , Biomarcadores Tumorais/genética , Melanoma/genética , Melanoma/patologia , Proteínas Supressoras de Tumor/biossíntese , Ubiquitina Tiolesterase/biossíntese , Neoplasias Uveais/genética , Neoplasias Uveais/patologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Proteínas Mutadas de Ataxia Telangiectasia/genética , Análise Mutacional de DNA , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Proteínas Supressoras de Tumor/genética , Ubiquitina Tiolesterase/genética , Adulto JovemRESUMO
PURPOSE: To analyze the activation of NFκB1/p50 in the inflammatory and non-inflammatory environment of uveal melanoma and its association with clinicopathological factors and patient outcome. METHODS: Activation of NFκB1/p50 was evaluated in 75 cases of uveal melanoma by immunohistochemistry. mRNA expression in 58 fresh UM specimen was measured by quantitative reverse-transcriptase PCR (qRT-PCR). Western blotting was performed to validate the immunohistochemistry results in representative cases. RESULTS: Forty-five cases showed both cytoplasmic and nuclear immunoreactivity of NFκB1/p50. Increased level of NFκB1/p50 activation was more frequent in the inflammatory environment group as compared to non-inflammatory environment group at both transcriptional and translational level. In multivariate analysis, infiltrating macrophages and nuclear immunoreactivity of NFκB1/p50 (pâ¯<â¯.05) in tumor cells were found to be an independent prognostic factor for poor survival. CONCLUSION: Our results suggest that nuclear immunoreactivity NFκB1/p50 may serve as a useful marker in assessing the prognosis of uveal melanoma patients.
Assuntos
Núcleo Celular/metabolismo , Inflamação/patologia , Melanoma/patologia , Subunidade p50 de NF-kappa B/metabolismo , Neoplasias Uveais/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Núcleo Celular/genética , Feminino , Humanos , Inflamação/imunologia , Inflamação/metabolismo , Masculino , Melanoma/imunologia , Melanoma/metabolismo , Pessoa de Meia-Idade , Subunidade p50 de NF-kappa B/genética , Prognóstico , Estudos Prospectivos , Taxa de Sobrevida , Neoplasias Uveais/imunologia , Neoplasias Uveais/metabolismo , Adulto JovemRESUMO
PURPOSE: Uveal melanoma (UM) is an intraocular malignancy commonly arising from choroid which can cause visual loss or metastasis. Ataxia-telangiectasia mutated (ATM) protein is an activator of DNA damage response and its role in uveal melanoma (UM) is still unexplored. Therefore, the study aims to detect the expression and localization of ATM protein and its association with clinicopathological parameters METHODS: Expression of nuclear ATM (nATM) was investigated on 69 formalin fixed paraffin embedded choroidal melanoma samples by immunohistochemistry and validated by western blotting. Results were then correlated with clinical and histopathological parameters. Prognostic significance was determined by the Kaplan-Meier analysis and the multivariate analysis by Cox's hazard proportional method. RESULTS: Loss of nATM was observed in 65% of cases, which was statistically significant with the reduced disease-free survival (p = 0.042). This loss was more frequently found in cases with high-risk histopathological factors like epithelioid cell type, tumor infiltrating lymphocytes and high pigmentation which might help in the progression of melanoma. On multivariate analysis, extraocular spread and loss of nATM were found to be independent prognostic factors (p < 0.05). CONCLUSION: Our data suggest that loss of nATM protein might serve as a poor prognostic marker in the pathogenesis of uveal melanoma which may lead to increased risk of metastasis.
Assuntos
Proteínas Mutadas de Ataxia Telangiectasia/metabolismo , Biomarcadores Tumorais/metabolismo , Melanoma/mortalidade , Melanoma/patologia , Neoplasias Uveais/mortalidade , Neoplasias Uveais/patologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Progressão da Doença , Intervalo Livre de Doença , Feminino , Humanos , Imuno-Histoquímica , Estimativa de Kaplan-Meier , Linfócitos do Interstício Tumoral/patologia , Masculino , Melanoma/metabolismo , Melanoma/cirurgia , Pessoa de Meia-Idade , Prognóstico , Estudos Prospectivos , Neoplasias Uveais/metabolismo , Neoplasias Uveais/cirurgia , Adulto JovemRESUMO
PURPOSE: To study microscopic and ultrastructural changes of levator palpebrae superioris (LPS) muscle in congenital ptosis. METHODS: In this prospective observational study, LPS muscle was studied in 77 eyelids with congenital ptosis; 35-simple congenital ptosis (SCP), 12-Marcus Gunn jaw winking phenomenon (MGJWP), and 30-blepharophimosis epicanthus inversus syndrome (BPES). Light microscopy, enzyme histochemistry, immunohistochemistry and electron microscopy were performed, and results were analyzed. RESULTS: Muscle fibers were detected in 83.33% of MGJWP, 22.86% of SCP and 16.67% of BPES eyelids. Fibers were detected significantly more in individuals with moderate ptosis, LPS action > 4 mm, present eyelid crease and eyelid fold. Severe endomysial and perimysial fibrosis was seen significantly more in individuals with MGJWP. Fat infiltration and nuclei internalization were seen in all three groups. The absence of degenerating or regenerating fibers and inflammatory cells, normal staining pattern on immunohistochemistry and absence of accumulation of any abnormal substance were found in all three groups. Abnormal mitochondrial staining pattern was seen occasionally in three groups. On electron microscopy, muscle was detected in 1 SCP eyelid and 8 MGJWP eyelids out of which 4 had myofibrillary disruption. All other eyelids where muscle fibers were not detected had only fibrocollagenous tissue. CONCLUSION: Fibrocollagenous tissue predominated in all the cases, and muscle fibers detected correlated inversely with the severity of ptosis. The absence of degenerating, regenerating fibers and inflammatory cells supported the theory of dysgenesis of muscle. However, internalization of nucleus seen in all the subtypes is a feature favoring dystrophy.
Assuntos
Blefaroptose/fisiopatologia , Pálpebras/fisiopatologia , Músculos Oculomotores/fisiopatologia , Adulto , Análise de Variância , Blefaroptose/congênito , Colágeno/análise , Feminino , Humanos , Imuno-Histoquímica , Masculino , Proteínas dos Microfilamentos/análise , Microscopia Eletrônica , Fibras Musculares Esqueléticas/patologia , Fibras Musculares Esqueléticas/ultraestrutura , Polissacarídeos/análise , Estudos ProspectivosRESUMO
PURPOSE: To report a rare case of isolated severe microblepharon in a neonate. METHODS: A 27 days old male child was brought by parents with redness, photophobia and discharge for two weeks. Thorough ophthalmological and systemic examination was performed. RESULTS: The diagnosis of isolated severe microblepharon with infectious keratitis was made. After the appropriate management of infectious keratitis and achieving complete resolution, the child was subjected to bilateral lid reconstruction was done in the form of upper lid skin grafting and tarsorrhaphy and the patient is being followed up. CONCLUSION: A rare case of bilateral isolated severe microblepharon affecting all four eyelids is being reported. Urgent surgical intervention is recommended in such cases in order to achieve good corneal coverage which results in faster healing of infective keratitis and a good visual outcome.
Assuntos
Doenças Palpebrais/congênito , Pálpebras/anormalidades , Blefaroplastia/métodos , Doenças Palpebrais/diagnóstico , Doenças Palpebrais/cirurgia , Pálpebras/diagnóstico por imagem , Humanos , Recém-Nascido , Masculino , Doenças Raras , Transplante de PeleRESUMO
BACKGROUND: Delayed presentation of orbital trauma as an acute subperiosteal hematoma. CASE REPORT: A 12-year-boy developed sudden painful abaxial proptosis of the left eyeball 15 days after blunt trauma over the forehead. On contrast-enhanced computed tomography, a heterogeneous, hypodense, non-enhancing mass with biconvex contour was seen adjacent to the orbital roof. Direct needle drainage was performed and about 10 mL dark blood was aspirated. Proptosis reduced immediately and resolved completely at 2 weeks follow-up. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Sudden proptosis with no immediate history of trauma can be alarming for the emergency physician. Familiarity with this clinical entity and early drainage can decrease morbidity.
Assuntos
Hematoma/terapia , Agulhas , Paracentese/métodos , Córtex Pré-Frontal/lesões , Criança , Traumatismos Craniocerebrais/complicações , Serviço Hospitalar de Emergência/organização & administração , Exoftalmia/etiologia , Hematoma/complicações , Humanos , Masculino , Ultrassonografia/métodosRESUMO
BACKGROUND: A case of orbital emphysema associated with elevated intraorbital pressure, presenting as a complication of a paranasal sinus "blow-out" fracture after trauma to the orbit and globe is presented. CASE REPORT: A 45-year-old man developed left globe rupture with orbital emphysema after blunt trauma. A large air pocket in the superior orbit with medial wall fracture and globe tenting was identified on noncontrast computed tomography. Direct needle drainage was performed using a 23-gauge needle attached to a saline-filled syringe with the plunger removed. Rapid release of air bubbles with prompt alleviation of pressure symptoms was observed. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Early diagnosis and management of orbital emphysema can salvage useful function of the globe. The knowledge of this clinical entity and its management can prevent delay and unnecessary referral.
Assuntos
Descompressão Cirúrgica/métodos , Enfisema/cirurgia , Hipertensão Ocular/cirurgia , Doenças Orbitárias/cirurgia , Tratamento de Emergência/métodos , Traumatismos Oculares/complicações , Humanos , Masculino , Pessoa de Meia-Idade , Fraturas Orbitárias/complicações , Resultado do Tratamento , Ferimentos não Penetrantes/complicaçõesRESUMO
PURPOSE: To evaluate the adjuvant role of amniotic membrane transplantation (AMT) in cases of acute ocular Stevens-Johnson syndrome (SJS). DESIGN: Prospective randomized controlled clinical trial. PARTICIPANTS: Twenty-five patients (50 eyes) with acute ocular SJS who presented within 4 weeks of onset of symptoms were recruited. METHODS: The eyes were randomized into 2 groups that underwent either AMT with medical therapy (MT; n = 25) or standard MT alone (n = 25). The patients were evaluated at presentation and during follow-up at 1 week and 1, 3, and 6 months. The parameters evaluated were the best-corrected visual acuity (BCVA), Schirmer test, tear film breakup time (TBUT), conjunctival congestion, corneal haze, vascularization, conjunctivalization, and limbal stem cell involvement. Lid edema, symblepharon, ankyloblepharon, ectropion, entropion, trichiasis, and metaplastic lashes also were analyzed. MAIN OUTCOME MEASURES: Maintenance of BCVA and stable ocular surface. RESULTS: At the end of 6 months, the mean BCVA was significantly better in the AMT group (0.068±0.10 logMAR units) compared with the MT group (0.522±0.52 logMAR units; P = 0.042). The mean TBUT in the AMT and MT groups was 9.92±4.1 and 6.96±4.5 seconds, respectively (P = 0.015). The mean Schirmer test results in the AMT and MT groups were 15.4±6.3 and 8.64±5.4 mm, respectively (P < 0.001). Conjunctival congestion persisted in 44% (11/25) in the MT group compared with 4% (1/25) in the AMT group (P = 0.03) at the end of the 6-month follow-up. No case in the AMT group demonstrated corneal haze, limbal stem cell deficiency, symblepharon, ankyloblepharon, or lid-related complications. Among eyes in the MT group, corneal haze occurred in 44% (11/25; P = 0.001), corneal vascularization and conjunctivalization in 24% (6/25; P = 0.03), symblepharon in 16% (4/25; P = 0.12), ankyloblepharon in 4% (1/25; P = 1.00), ectropion and entropion in 8% (2/25; P = 0.47), and trichiasis and metaplastic lashes in 24% (6/25; P = 0.03) eyes. CONCLUSIONS: Amniotic membrane transplantation is a useful adjunct to conventional MT in maintaining BCVA and a stable ocular surface in cases of acute ocular SJS. Furthermore, the adjunctive use of AMT also helps to prevent intermediate-term ocular cicatricial sequelae.
Assuntos
Âmnio/transplante , Conjuntivite/cirurgia , Doenças da Córnea/cirurgia , Síndrome de Stevens-Johnson/cirurgia , Doença Aguda , Administração Tópica , Adulto , Idoso , Antibacterianos/uso terapêutico , Cloranfenicol/uso terapêutico , Conjuntivite/tratamento farmacológico , Conjuntivite/fisiopatologia , Doenças da Córnea/tratamento farmacológico , Doenças da Córnea/fisiopatologia , Combinação de Medicamentos , Feminino , Glucocorticoides/uso terapêutico , Humanos , Masculino , Pessoa de Meia-Idade , Soluções Oftálmicas , Polimixina B/uso terapêutico , Prednisolona/uso terapêutico , Estudos Prospectivos , Síndrome de Stevens-Johnson/tratamento farmacológico , Síndrome de Stevens-Johnson/fisiopatologia , Acuidade Visual/fisiologia , Adulto JovemRESUMO
CHLAMYDIA AND OCULAR ADNEXAL LYMPHOMAS: AN INDIAN EXPERIENCE: Ocular adnexal lymphomas (OALs) are a heterogeneous group of malignancies, majority being extranodal mucosa-associated lymphoid tissue (MALT) type. Different geographical regions have reported association of Chlamydia with OALs (MALT type). In India, role of Chlamydia in OALs remains unexplored. The aim of this study was to detect Chlamydia and to correlate with clinicopathological features of OALs in India. The clinicopathological features of 41 OAL cases were studied prospectively. Chlamydia DNA was detected by genus specific PCR amplifying major outer membrane protein (MOMP) gene followed by DNA sequencing. Chlamydia immunoexpression was evaluated by immunofluorescence and immunohistochemistry. The results were correlated with clinicopathological features including follow-up and survival. Chlamydia genome was detected in 3/41 (7.3%) OAL cases by PCR. Direct sequencing revealed C. trachomatis in 3 positive cases. Immunofluorescence and immunohistochemistry showed Chlamydia antigen in 5/41 and 1/41 cases respectively. Immunofluorescence demonstrated higher sensitivity than immunohistochemistry. A significant association was observed between Chlamydia positivity and orbital location (P=0.05). Follow-up revealed relapse in 2 Chlamydia positive cases (P=0.056). Our results demonstrate for the first time presence of C. trachomatis genome in 7.3% OAL cases in India. As no other reports are documented, more detailed studies from different regions within India are needed to explore status of Chlamydia in OALs.
Assuntos
Infecções por Chlamydia/microbiologia , Infecções por Chlamydia/patologia , Neoplasias Oculares/microbiologia , Neoplasias Oculares/patologia , Linfoma/microbiologia , Linfoma/patologia , Infecções por Chlamydia/complicações , DNA Bacteriano/genética , DNA Bacteriano/isolamento & purificação , Neoplasias Oculares/complicações , Feminino , Imunofluorescência , Seguimentos , Geografia , Humanos , Imuno-Histoquímica , Imunofenotipagem , Índia , Estimativa de Kaplan-Meier , Linfoma/complicações , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Valor Preditivo dos Testes , Análise de Sequência de DNA , Resultado do TratamentoRESUMO
BACKGROUND: Reactive oxygen species (ROS) have been shown to enhance the proliferation of cancer cells. NADPH oxidases (NOX4) are a major intracellular source of ROS and are found to be associated with cancer and tumor cell invasion. Therefore, the purpose of this study is to evaluate the expression of NOX4 protein in human retinoblastoma. METHODS: Immunohistochemical expression of NOX4 protein was analyzed in 109 specimens from prospective cases of retinoblastoma and then correlated with clinicopathological parameters and patient survival. Western blotting confirmed and validated the immunoreactivity of NOX4 protein. RESULTS: In our study we found a male preponderance (55.9 %), and 25/109 (22.9 %) were bilateral. Massive choroidal invasion was the histopathological high-risk factor (HRF) most frequently observed, in 42.2 % of the cases. NOX4 protein was expressed in 67.88 % (74/109) of primary retinoblastoma cases and was confirmed by Western blotting. NOX4 was statistically significant with massive choroidal invasion and pathological TNM staging. There was a statistically significant difference in overall survival in patients with NOX4 expression (p = 0.0461). CONCLUSION: This is the first study to show the expression of NOX4 protein in retinoblastoma tumors. Hence, a retinoblastoma tumor may exhibit greater ROS stress. This protein may prove to be useful as a future therapeutic target for improving the management of retinoblastoma.
Assuntos
Biomarcadores Tumorais/análise , NADPH Oxidases/análise , Neoplasias da Retina/enzimologia , Neoplasias da Retina/patologia , Retinoblastoma/enzimologia , Retinoblastoma/patologia , Pré-Escolar , Corioide/patologia , Feminino , Humanos , Lactente , Masculino , NADPH Oxidase 4 , Invasividade Neoplásica , Estadiamento de Neoplasias , Estresse Oxidativo , Prognóstico , Estudos Prospectivos , Espécies Reativas de Oxigênio , Taxa de SobrevidaRESUMO
BACKGROUND: Regulation of apoptosis is a complex process that involves a number of genes, including Bcl-2, Bcl-x, Bax and other Bcl-2 family members. The aim of the present study is to assess the expression of Bcl- 2 and Bax in retinoblastoma, and correlate them with clinical and histopathological parameters. METHODS: The expression of Bcl-2 and Bax proteins were examined using immunohistochemistry, Western blotting and reverse transcriptase-polymerase chain reaction in a series of 60 prospective cases of primary retinoblastoma tissues. RESULTS: Immunohistochemistry showed expression of Bcl-2 in 40/60 (66.6%), whereas Bax expression was found only in 18/60 (30%) cases, and these correlated with mRNA expression. The Western blotting results also correlated well with the immunohistochemical expression of Bcl-2 (25 kDa) and Bax (21 kDa) proteins. Bcl-2 was expressed in 96% (24/25) of invasive tumours and in 45.7% (16/35) of non-invasive tumours. Expression of Bcl-2 significantly correlated with tumour invasiveness (P = 0.0274) and poor differentiation (P = 0.0163), whereas loss of Bax correlated with massive choroidal invasion and Pathological Tumor-Node-Metastasis (pTNM) (P = 0.0341). However, no correlation was found between Bax and Bcl-2 expression. CONCLUSIONS: Our findings suggest that these apoptotic regulatory proteins may serve as poor prognostic markers and can be used as a therapeutic target for the treatment of invasive retinoblastoma. Further functional studies are required to explore the role of Bax and Bcl-2 in retinoblastoma.
Assuntos
Apoptose , Biomarcadores Tumorais/metabolismo , Proteínas Proto-Oncogênicas c-bcl-2/metabolismo , Neoplasias da Retina/metabolismo , Retinoblastoma/metabolismo , Proteína X Associada a bcl-2/metabolismo , Biomarcadores Tumorais/genética , Western Blotting , Pré-Escolar , Feminino , Expressão Gênica/fisiologia , Genes Neoplásicos/fisiologia , Humanos , Imuno-Histoquímica , Masculino , Proteínas de Neoplasias/genética , Proteínas Proto-Oncogênicas c-bcl-2/genética , RNA Mensageiro/genética , Neoplasias da Retina/genética , Neoplasias da Retina/patologia , Retinoblastoma/genética , Retinoblastoma/patologia , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Proteína X Associada a bcl-2/genéticaRESUMO
BACKGROUND: Retinoblastoma is evolving, but it is still a therapeutic challenge for pediatric oncologists. Polo-like kinases (PLKs) plays an important role in cell cycle events. They play a crucial role in cell proliferation which may lead to tumour formation. The objective of this study is to investigate the role of PLK1 and PLK3 proteins in human retinoblastoma tissues. DESIGN: Non-randomized, prospective study was performed in the Dr R. P. Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India. PARTICIPANTS: This study included 74 primary enucleated retinoblastoma tissues. METHODS: Expression of PLK1 and PLK3 protein were assessed in primary enucleated retinoblastoma tissues by immunohistochemistry and western blotting. MAIN OUTCOME MEASURES: Expression of PLK1 and PLK3 protein were correlated with clinical and histopathological parameters, tumour staging and overall survival of patients. RESULTS: Immunohistochemical results revealed expression of PLK1 in 47/74 (63.51%) cases and PLK3 in 31/74 (41.89%) cases. Western blotting confirmed the immunoreactivity results. Expression of PLK1 showed correlation with poor differentiation and tumour invasion. In addition, PLK1 was statistically significant with massive choroidal invasion, whereas PLK3 did not correlate with any of the clinical or histopathological parameters. There was no statistical correlation in the overall survival of patients with PLK1 and PLK3 expression. CONCLUSIONS: PLK1 expression was associated with poor tumour differentiation and histopathological high-risk factors. These proteins may be involved in tumorigenesis and progression of disease. These results suggest that PLK1 may act as a potential therapeutic target and a promising marker for developing potent small molecule inhibitors of PLK isoforms in retinoblastoma.
Assuntos
Proteínas de Ciclo Celular/metabolismo , Proteínas Serina-Treonina Quinases/metabolismo , Proteínas Proto-Oncogênicas/metabolismo , Neoplasias da Retina/enzimologia , Retinoblastoma/enzimologia , Western Blotting , Criança , Pré-Escolar , Enucleação Ocular , Feminino , Humanos , Técnicas Imunoenzimáticas , Lactente , Masculino , Prognóstico , Estudos Prospectivos , Neoplasias da Retina/patologia , Retinoblastoma/patologia , Proteínas Supressoras de Tumor , Quinase 1 Polo-LikeRESUMO
To conduct a study on ptotic eyelids with Marcus Gunn jaw-winking ptosis operated via a technique of modified levator plication, prospective interventional case series. Ten ptotic eyelids with Marcus Gunn jaw-winking phenomenon (MGJWP) underwent modified levator plication surgery. Postoperatively, all cases were followed up for at least 6 months. Outcome parameters included amount of ptosis correction, amount of MGJWP correction, palpebral aperture height, lid lag, and lagophthalmos. The mean amount of ptosis was 4.25 ± 0.79 mm (range of 3-6 mm), mean amount of MGJWP was 5.10 ± 2.27 mm (range 2-9 mm), and the mean levator function was 8.3 ± 2.27 mm (range of 4-12 mm). At 6 months follow-up, good correction of ptosis was seen in nine out of ten patients. Resolution of MGJWP (≤1 mm of excursion of upper eyelid with synkinetic mouth movement) was seen in three patients. Improvement in MGJWP (>1 mm of excursion of upper eyelid with synkinetic mouth movement) was seen in seven patients. The mean post-operative lagophthalmos was 0.80 ± 0.88 mm. The modified levator plication technique was effective in the treatment of MGJWP. This modified technique of levator plication is anatomically less destructive and hence more acceptable, with the added advantages of less post-operative lagophthalmos and no lid contour defects.