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1.
Fetal Pediatr Pathol ; : 1-8, 2024 Sep 08.
Artículo en Inglés | MEDLINE | ID: mdl-39245644

RESUMEN

Introduction: Pediatric orbital tumors encompass a wide spectrum of neoplasms, many of which are malignant small round cell tumors with overlapping histology. Sarcomas with BCOR genetic alterations are undifferentiated round cell sarcomas (URCS) characterized by BCOR rearrangements or internal tandem duplications, having distinct clinical features. Being previously unrecognized in the orbit, they have potential for misdiagnosis. Patients: We describe two cases of orbital sarcomas with BCOR genetic alterations. Results: Both girls, 8 and 16 months of age, respectively, presented with progressive proptosis. Both tumors showed sheets of round to ovoid cells with monomorphic nuclei and frequent mitoses. Delicate branching capillaries and myxoid stroma were absent. Diffuse BCOR, cyclin D1, and SATB2 immunopositivity was present. Conclusion: Orbital sarcomas with BCOR genetic alterations are extremely rare. Pathologists should have high index of suspicion for novel genetically defined entities in the differential diagnosis of pediatric orbital URCS and perform appropriate ancillary tests for accurate diagnosis.

2.
Med J Armed Forces India ; 80(5): 541-546, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39309577

RESUMEN

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.

3.
J Ultrasound Med ; 42(2): 399-408, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-35546328

RESUMEN

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.


Asunto(s)
Toxinas Botulínicas Tipo A , Enfermedades de los Párpados , Humanos , Toxinas Botulínicas Tipo A/uso terapéutico , Glándula Tiroides , Microscopía Acústica , Estudios Prospectivos , Párpados/diagnóstico por imagen , Trastornos de la Visión
4.
Ann Diagn Pathol ; 56: 151846, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-34749048

RESUMEN

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.


Asunto(s)
Biomarcadores de Tumor/metabolismo , Carcinoma Adenoide Quístico/metabolismo , Neoplasias del Ojo/metabolismo , Subunidad alfa del Factor 1 Inducible por Hipoxia/metabolismo , Enfermedades del Aparato Lagrimal/metabolismo , Aparato Lagrimal/metabolismo , Factor A de Crecimiento Endotelial Vascular/metabolismo , Adolescente , Adulto , Anciano , Carcinoma Adenoide Quístico/diagnóstico , Carcinoma Adenoide Quístico/mortalidad , Neoplasias del Ojo/diagnóstico , Neoplasias del Ojo/mortalidad , Femenino , Estudios de Seguimiento , Humanos , Enfermedades del Aparato Lagrimal/diagnóstico , Enfermedades del Aparato Lagrimal/mortalidad , Masculino , Persona de Mediana Edad , Pronóstico , Estudios Retrospectivos , Análisis de Supervivencia , Adulto Joven
5.
Artículo en Inglés | MEDLINE | ID: mdl-35400798

RESUMEN

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.

6.
Cancer Immunol Immunother ; 70(5): 1291-1303, 2021 May.
Artículo en Inglés | MEDLINE | ID: mdl-33136179

RESUMEN

BACKGROUND: To understand how to improve the effect of immune checkpoint inhibitors in uveal melanoma (UM), we need a better understanding of the expression of PD-1 and PD-L1, their relation with the presence of tumor-infiltrating lymphocytes (TILs), and their prognostic relevance in UM patients. MATERIALS AND METHODS: Expression of PD-1 and PD-L1 was assessed in 71 UM tissue samples by immunohistochemistry and quantitative real-time PCR (qRT-PCR), and further validated by western blotting. The effect of interferon gamma (IFN-γ) on PD-1/PD-L1 expression was determined on four UM cell lines. RESULTS: Immunoreactivity of PD-1 was found in 30/71 cases and of PD-L1 in 44/71 UM samples. Tumor-infiltrating lymphocytes were found in 46% of UM tissues. PD-1 was expressed on TILs while tumor cells expressed PD-L1. UM with and without TILs showed expression of PD-1 in 69% and 18% cases, respectively (p = 0.001). Similarly, PD-L1 was found in 75% of UM with TILs and in 50% of cases without TILs, respectively (p = 0.03). DFS rate were lower in patients with TILs with expression of PD-1 and PD-L1, but the rate of DFS was higher with expression of PD-L1 in patients without TILs. After treatment of UM cell lines with IFN-γ, PD-1 expression was induced in all UM cell lines whereas PD-L1 expression was found at a lower level in untreated cells, while expression also increased following treatment with IFN-γ. CONCLUSION: Our study suggests that increased infiltration with TILs promotes the aggressive behavior and suppresses the immune response of UM cells, thereby inhibiting immunotherapy.


Asunto(s)
Antígeno B7-H1/metabolismo , Neoplasias del Ojo/metabolismo , Inmunoterapia/métodos , Linfocitos Infiltrantes de Tumor/inmunología , Melanoma/metabolismo , Receptor de Muerte Celular Programada 1/metabolismo , Neoplasias de la Úvea/metabolismo , Antígeno B7-H1/genética , Línea Celular Tumoral , Movimiento Celular , Neoplasias del Ojo/diagnóstico , Neoplasias del Ojo/mortalidad , Estudios de Seguimiento , Humanos , Inmunohistoquímica , Interferón gamma/metabolismo , Melanoma/diagnóstico , Melanoma/mortalidad , Reacción en Cadena de la Polimerasa , Pronóstico , Receptor de Muerte Celular Programada 1/genética , Análisis de Supervivencia , Neoplasias de la Úvea/diagnóstico , Neoplasias de la Úvea/mortalidad
7.
Ophthalmic Plast Reconstr Surg ; 37(3): e103-e105, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33060514

RESUMEN

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.


Asunto(s)
Policondritis Recurrente , Escleritis , Adulto , Biopsia , Humanos , Masculino , Policondritis Recurrente/complicaciones , Policondritis Recurrente/diagnóstico , Escleritis/diagnóstico , Adulto Joven
8.
Cancer Immunol Immunother ; 69(6): 1087-1099, 2020 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-32100078

RESUMEN

PURPOSE: The goal of this study is to identify the pathological findings and expression of immune checkpoint marker (PD-1, PD-L1, and CTLA-4) in the tumor microenvironment of both primary and chemoreduced retinoblastoma and correlate them with clinicopathological parameters and patient outcome. METHODS: Total of 262 prospective cases was included prospectively in which 144 cases underwent primary enucleation and 118 cases received chemotherapy/radiotherapy before enucleation (chemoreduced retinoblastoma). Immunohistochemistry, qRT-PCR and western blotting were performed to evaluate the expression pattern of immune checkpoint markers in primary and chemoreduced retinoblastoma. RESULTS: Tumor microenvironment were different for both primary and chemoreduced retinoblastoma. Expression of PD-1 was found in 29/144 (20.13%) and 48/118 (40.67%) in primary and chemoreduced retinoblastoma, respectively, whereas PD-L1 was expressed in 46/144 (31.94%) and 22/118 (18.64%) in cases of primary and chemoreduced retinoblastoma, respectively. Expression pattern of CTLA-4 protein was similar in both groups of retinoblastoma. On multivariate analysis, massive choroidal invasion, bilaterality and PD-L1 expression (p = 0.034) were found to be statistically significant factors in primary retinoblastoma, whereas PD-1 expression (p = 0.015) and foamy macrophages were significant factors in chemoreduced retinoblastoma. Overall survival was reduced in cases of PD-L1 (80.76%) expressed primary retinoblastoma, and PD-1 (63.28%) expressed chemoreduced retinoblastoma. CONCLUSIONS: This is the first of its kind study predicting a relevant role of the immune checkpoint markers in both groups of primary and chemoreduced retinoblastoma with prognostic significance. Differential expression of these markers in both group of retinoblastoma is a novel finding and might be an interesting and beneficial target for chemoresistant tumors.


Asunto(s)
Anticuerpos Monoclonales/metabolismo , Anticuerpos Monoclonales/uso terapéutico , Inmunoterapia/métodos , Retinoblastoma/tratamiento farmacológico , Anticuerpos Monoclonales/farmacología , Femenino , Humanos , Masculino , Pronóstico , Estudios Prospectivos , Retinoblastoma/inmunología , Retinoblastoma/mortalidad , Análisis de Supervivencia , Microambiente Tumoral
9.
Ophthalmic Plast Reconstr Surg ; 36(6): e141-e144, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32332692

RESUMEN

The authors report a case of extremely uncommon malignancy of lacrimal gland epithelial-myoepithelial carcinoma. This carcinoma is more commonly encountered in salivary glands and comprises 1% of all salivary gland tumors. Its occurrence in the orbit is very rare with only 6 cases reported in the literature, most of which arose in a pleomorphic adenoma. Epithelial-myoepithelial carcinoma is primarily a tumor of older adults, with a peak incidence in the sixth and seventh decades of life. The present case is the youngest patient reported to date and had no history of preexisting neoplasm in the lacrimal gland. Histological diagnosis of epithelial-myoepithelial carcinoma is challenging because of the similarity with other lacrimal gland epithelial tumors like malignant adenoid cystic carcinoma and benign pleomorphic adenomas.


Asunto(s)
Adenoma Pleomórfico , Carcinoma Adenoide Quístico , Carcinoma , Aparato Lagrimal , Neoplasias de las Glándulas Salivales , Adenoma Pleomórfico/diagnóstico , Anciano , Carcinoma Adenoide Quístico/diagnóstico , Humanos , Aparato Lagrimal/diagnóstico por imagen
10.
Exp Mol Pathol ; 111: 104313, 2019 12.
Artículo en Inglés | MEDLINE | ID: mdl-31533021

RESUMEN

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 (p < .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.


Asunto(s)
Núcleo Celular/metabolismo , Inflamación/patología , Melanoma/patología , Subunidad p50 de NF-kappa B/metabolismo , Neoplasias de la Úvea/patología , Adulto , Anciano , Anciano de 80 o más Años , Núcleo Celular/genética , Femenino , Humanos , Inflamación/inmunología , Inflamación/metabolismo , Masculino , Melanoma/inmunología , Melanoma/metabolismo , Persona de Mediana Edad , Subunidad p50 de NF-kappa B/genética , Pronóstico , Estudios Prospectivos , Tasa de Supervivencia , Neoplasias de la Úvea/inmunología , Neoplasias de la Úvea/metabolismo , Adulto Joven
11.
Int Ophthalmol ; 39(6): 1231-1238, 2019 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-29705893

RESUMEN

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.


Asunto(s)
Blefaroptosis/fisiopatología , Párpados/fisiopatología , Músculos Oculomotores/fisiopatología , Adulto , Análisis de Varianza , Blefaroptosis/congénito , Colágeno/análisis , Femenino , Humanos , Inmunohistoquímica , Masculino , Proteínas de Microfilamentos/análisis , Microscopía Electrónica , Fibras Musculares Esqueléticas/patología , Fibras Musculares Esqueléticas/ultraestructura , Polisacáridos/análisis , Estudios Prospectivos
12.
Int Ophthalmol ; 38(5): 2175-2178, 2018 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-28803395

RESUMEN

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.


Asunto(s)
Enfermedades de los Párpados/congénito , Párpados/anomalías , Blefaroplastia/métodos , Enfermedades de los Párpados/diagnóstico , Enfermedades de los Párpados/cirugía , Párpados/diagnóstico por imagen , Humanos , Recién Nacido , Masculino , Enfermedades Raras , Trasplante de Piel
13.
Ophthalmic Plast Reconstr Surg ; 33(2): e45-e47, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-27262144

RESUMEN

The authors report a rare case of ocular surface squamous neoplasia with intraocular involvement that had an initial masquerade presentation of recurrent anterior nodular scleritis. A 35-year-old male patient presented with right eye recurrent anterior nodular scleritis for which a lamellar patch graft was done. Two months later, the patient presented with recurrence of symptoms. Histopathology review revealed the presence of well-differentiated squamous cell malignancy. A high index of suspicion for malignancy is required in such cases when they do not respond to conventional therapy.


Asunto(s)
Carcinoma de Células Escamosas/patología , Neoplasias del Ojo/patología , Escleritis/patología , Adulto , Diagnóstico Diferencial , Humanos , Masculino
14.
Semin Diagn Pathol ; 33(3): 141-7, 2016 May.
Artículo en Inglés | MEDLINE | ID: mdl-26972224

RESUMEN

Uveal melanoma is the most common primary intraocular malignancy in adults. It is associated with a high rate of distant tumor spread and consequent mortality. Unlike retinoblastoma, for which treatment advances over the last few decades have resulted in a dramatic improvement in survival, outcomes for patients with uveal melanoma remain unchanged. Despite improvement in local control of this tumor, roughly 50% of patients develop metastatic disease within 15 years. Delays in diagnosis and marked vascularity of this tumor may underlie that situation. Tumor size, location, histopathologic appearance, cytogenetic abnormalities, and molecular profiling are used in prognostication. The revised 7th edition of the American Joint Committee on Cancer (AJCC) manual has presented new information that may improve that process as well. Herein, we review current knowledge on uveal melanoma.


Asunto(s)
Melanoma/patología , Úvea/patología , Neoplasias de la Úvea/patología , Humanos , Melanoma/terapia , Pronóstico , Neoplasias de la Úvea/terapia
15.
Int Ophthalmol ; 35(6): 793-9, 2015 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-25673519

RESUMEN

The purpose of this study was to study anatomical, functional, and cosmetic outcomes of a novel technique, 'Lateral Eyelid Rotation Flap' for reconstruction of full thickness eyelid defect. In this prospective interventional study, 10 patients with full thickness eyelid defect measuring 1/2-2/3rd of eyelid width were included. Eyelid reconstruction was performed by single surgeon, using lateral eyelid rotation flap. Anatomic outcome was assessed by analyzing horizontal and vertical palpebral apertures (HPA and VPA), eyelid contour, and lateral canthus. Functional outcome was assessed by measuring tear film break-up time (TBUT) and Schirmer's test in both the eyes. Cosmetic outcome was evaluated by patients. Median age of patients was 56 years. Nine cases had full thickness defect following the excision of eyelid malignancy. The mean horizontal defect size was 17 ± 4.2 mm. HPA did not change significantly after surgery. VPA was statistically comparable to contralateral eye at 1-month follow-up. Lateral canthus angle recovered by 3rd month after surgery. TBUT and Schirmer's tests were comparable to contralateral eye. Eight patients graded cosmetic outcome as good to excellent. This is a new, single-stage technique for reconstruction of full thickness eyelid defects, with full thickness eyelid tissue including margin.


Asunto(s)
Enfermedades de los Párpados/cirugía , Párpados/anomalías , Párpados/cirugía , Procedimientos de Cirugía Plástica/métodos , Colgajos Quirúrgicos , Adolescente , Adulto , Anciano , Niño , Estética , Femenino , Humanos , Masculino , Persona de Mediana Edad , Complicaciones Posoperatorias/etiología , Estudios Prospectivos , Adulto Joven
16.
Int Ophthalmol ; 35(4): 481-6, 2015 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-25052540

RESUMEN

The aim of the study was to study the clinical, radiological and histopathological characteristics of orbital schwannomas. It is a retrospective study conducted at a tertiary eye care hospital. A review of histopathological records of the orbital tumors operated between 1993 and 2011 was done. The clinical, imaging and histopathological details of cases of orbital schwannoma were analyzed. Forty-nine cases of orbital schwannomas identified. The age ranged from 8 to 65 years with a female preponderance. The median duration of symptoms was 3 years. Computed tomography findings varied from a hypodense to hyperdense lesion with nil to marked contrast enhancement. USG demonstrated a defined lesion with variable internal reflectivity. Varied proportions of Antoni A and Antoni B areas were found on histopathology of the masses. Hypodense or cystic areas on imaging significantly correlated with Antoni B areas on histopathology. Orbital schwannoma is a rare tumor. The incidence of schwannoma in our institution is 6.5 %. Variable imaging features were found. The definite diagnosis can be established on the basis of histopathological and immunohistochemical studies.


Asunto(s)
Neurilemoma/patología , Neoplasias Orbitales/patología , Adolescente , Adulto , Anciano , Niño , Quistes/diagnóstico por imagen , Quistes/patología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Neurilemoma/diagnóstico por imagen , Neoplasias Orbitales/diagnóstico por imagen , Estudios Retrospectivos , Tomografía Computarizada por Rayos X , Adulto Joven
17.
Indian J Ophthalmol ; 72(7): 1012-1016, 2024 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-38454873

RESUMEN

PURPOSE: Retinoblastoma (RB) is the most common intraocular tumor in pediatric age group. The role of genetics has been explored in predicting survival prognosis, but its role in predicting globe salvage remains largely unexplored. We hereby aim to isolate cell-free DNA (cfDNA) from aqueous humor (AH) in RB eyes and validate its use for genetic studies. METHODS: AH was obtained from 26 eyes undergoing enucleation (arm A) or intravitreal chemotherapy (arm B). Isolation of cfDNA was done using QIAamp ® Circulating Nucleic Acid kit, and the cfDNA was utilized for targeted sequencing of RB1 gene. RESULTS: We could isolate cfDNA in all eyes (72% unilateral and 28% bilateral) with a distribution peak between 140 and 160 bp and a mean concentration of 27.75 ng/µl for arm A and 14 ng/µl for arm B. Targeted sequencing done on four samples showed RB1 gene mutations, namely, inframe deletion (c. 78-80del, p.Pro29del), start-loss mutation (c.1A>T, p.Met1?), nonsense mutations (c.2236G>T, p.Glu746Ter), (c.1659T>A, p.Cys553Ter), and (c.2065C>T, p.Gln689Ter), and novel missense mutations (c.672C>A, p.Asp224Glu) and c.692C>T (p.Pro231Leu). Genetic profile of cfDNA extracted from AH and genomic DNA from the tumor tissue was comparable. CONCLUSION: Our study supports the previous reports that AH may be used as a source of tumor-derived cfDNA. This is the first report from South Asia on isolation and genetic analysis of cfDNA from AH of RB eyes and, therefore, a big step forward in paving the role of tumor genetics in RB. Further studies are required to elucidate concordance between the tumor and AH genetic profile.


Asunto(s)
Humor Acuoso , Neoplasias de la Retina , Retinoblastoma , Humanos , Retinoblastoma/genética , Retinoblastoma/diagnóstico , Neoplasias de la Retina/genética , Neoplasias de la Retina/diagnóstico , Humor Acuoso/metabolismo , Masculino , Femenino , Preescolar , Lactante , ADN de Neoplasias/genética , ADN de Neoplasias/análisis , Mutación , Enucleación del Ojo , Niño , Biomarcadores de Tumor/genética , India/epidemiología , Proteínas de Unión a Retinoblastoma/genética , Sur de Asia , Ubiquitina-Proteína Ligasas
18.
J Pediatr Ophthalmol Strabismus ; 61(2): 98-105, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-37615419

RESUMEN

PURPOSE: To describe a staging system for optic nerve invasion using magnetic resonance imaging (MRI) and report any correlation with survival outcome. METHODS: This was a ambispective study. Twenty-one patients with retinoblastoma who had optic nerve involvement on MRI were staged at baseline based on contrast enhancement and/or thickening and length of involvement. Response to neoadjuvant chemotherapy (NACT) was noted according to proposed response evaluation criteria and results were correlated with survival outcome. RESULTS: Baseline MRI staging was able to predict event-free survival (EFS) (P = .0015) using the log-rank test for trends. Patients with optic nerve enhancement alone showed 100% survival prognosis. Optic nerve thickening cases with complete or partial response to NACT showed better EFS (P > .90) than those with stable disease according to response evaluation criteria. CONCLUSIONS: The modified staging system for optic nerve invasion used in the current study significantly predicted EFS. The study also showed that response to NACT may be affected by baseline staging. The authors recommend that cases with optic nerve enhancement only, irrespective of the length of involvement (stage 0), may be treated with upfront enucleation. Cases with optic nerve thickening may be staged to evaluate the correlation with survival outcome in a larger cohort in future studies. [J Pediatr Ophthalmol Strabismus. 2024;61(2):98-105.].


Asunto(s)
Neoplasias del Nervio Óptico , Neoplasias de la Retina , Retinoblastoma , Humanos , Retinoblastoma/tratamiento farmacológico , Neoplasias de la Retina/tratamiento farmacológico , Terapia Neoadyuvante , Neoplasias del Nervio Óptico/diagnóstico , Nervio Óptico/diagnóstico por imagen , Nervio Óptico/patología , Pronóstico , Imagen por Resonancia Magnética/métodos , Estudios Retrospectivos , Invasividad Neoplásica/patología
19.
Hum Cell ; 37(1): 297-309, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37914903

RESUMEN

Receptor tyrosine kinases (RTKs) serve as molecular targets for the development of novel personalized therapies in many malignancies. In the present study, expression pattern of receptor tyrosine kinases and its clinical significance in orbital RMS has been explored. Eighteen patients with histopathologically confirmed orbital RMS formed part of this study. Comprehensive q-PCR gene expression profiles of 19 RTKs were generated in the cases and controls. The patients were followed up for 59.53 ± 20.93 years. Clustering and statistical analysis tools were applied to identify the significant combination of RTKs associated with orbital rhabdomyosarcoma patients. mRNA overexpression of RTKs which included MET, AXL, EGFR was seen in 60-80% of cases; EGFR3, IGFR2, FGFR1, RET, PDGFR1, VEGFR2, PDGFR2 in 30-60% of cases; and EGFR4, FGFR3,VEGFR3 and ROS,IGFR1, EGFR1, FGFR2, VEGFR1 in 10-30% of cases. Immunoexpression of MET was seen in 89% of cases. A significant association was seen between MET mRNA and its protein expression. In all the cases MET gene expression was associated with worst overall survival (P = 0.03).There was a significant correlation of MET mRNA expression with RET, ROS, AXL, FGFR1, FGFR3, PDGFR1, IGFR1, VEGFR2, and EGFR3 genes. Association between MET gene and collective expression of RTKs was further evaluated by semi-supervised gene cluster analysis and Principal component analysis, which showed well-separated tumor clusters. MET gene overexpression could be a useful biomarker for identifying high risk orbital rhabdomyosarcoma patients. Well-separated tumor clusters confirmed the association between MET gene and collective expression of RTK genes. Therefore, the therapeutic potential of multi-kinase inhibitors targeting MET and the 9 other significant RTKs needs to be explored.


Asunto(s)
Biomarcadores de Tumor , Regulación Neoplásica de la Expresión Génica , Proteínas Proto-Oncogénicas c-met , Proteínas Tirosina Quinasas Receptoras , Rabdomiosarcoma Alveolar , Humanos , Proteínas Tirosina Quinasas Receptoras/genética , Proteínas Tirosina Quinasas Receptoras/metabolismo , Rabdomiosarcoma Alveolar/diagnóstico , Rabdomiosarcoma Alveolar/enzimología , Rabdomiosarcoma Alveolar/patología , Proteínas Proto-Oncogénicas c-met/genética , Biomarcadores de Tumor/genética , Sistemas de Liberación de Medicamentos , Análisis de Supervivencia , Masculino , Femenino , Lactante , Preescolar , Niño , Adolescente , Familia de Multigenes/genética , Análisis de Componente Principal , Perfilación de la Expresión Génica
20.
Indian J Ophthalmol ; 72(10): 1442-1447, 2024 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-39331434

RESUMEN

PURPOSE: The coronavirus disease 2019 (COVID-19) pandemic led to overall interrupted medical care, resulting in disease progression and morbidity. The study aimed to evaluate clinicopathological presentations and severity of eyelid malignancy during the COVID era, comparing the results with patients presented during pre-COVID era and evaluating the reasons for delayed presentation in patients with advanced eyelid malignancy in the COVID-era. METHODS: This was a comparative, ambispective observational study. Data regarding demographic, clinical, histopathology, and treatment modalities of confirmed cases of eyelid malignancy admitted during the period from March 2020 to September 2022 (defined as COVID era group) were collected and compared with retrospectively collected data from March 2017 to March 2020 (defined as pre-COVID era group). COVID era patients were further categorized as localized and advanced disease. Patients with advanced eyelid malignancy during COVID era were further subjected to a questionnaire to evaluate the reasons for delayed presentation. RESULTS: In total, 115 patients of eyelid malignancy were studied [COVID era group 40 (35%) and pre-COVID era group 75 (65%)]. A statistically significant increase in the duration of disease (P = 0.0001) and advanced tumor T-stage (P = 0.03) was noticed in the COVID era group. Demographic, histopathology, and ocular morbidity details were similar in both groups. The common reasons that led to delay in presentation and treatment in advanced T-stage patients during the COVID era were fear of acquiring COVID, lockdown, and lack of medical facilities. CONCLUSION: During the COVID-19 pandemic, both hospital- and patient-related factors contributed to delay in presentation, leading to advanced-stage disease indicating need of triaging of eyelid malignancy in the event of such pandemics in future.


Asunto(s)
COVID-19 , Neoplasias de los Párpados , SARS-CoV-2 , Humanos , COVID-19/epidemiología , Masculino , Femenino , Neoplasias de los Párpados/epidemiología , Neoplasias de los Párpados/patología , Neoplasias de los Párpados/terapia , Neoplasias de los Párpados/diagnóstico , Persona de Mediana Edad , Estudios Retrospectivos , Anciano , Pandemias , Adulto , Párpados/patología , India/epidemiología , Anciano de 80 o más Años
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