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1.
J Surg Res ; 297: 47-55, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38430862

RESUMO

INTRODUCTION: As the older adult population increases, hospitals treat more older adults with injuries. After leaving, these patients suffer from decreased mobility and independence, relying on care from others. Family members often assume this responsibility, mostly informally and unpaid. Caregivers of other older adult populations have increased stress and decreased caregiver-related quality of life (CRQoL). Validated CRQoL measures are essential to capture their unique experiences. Our objective was to review existing CRQoL measures and their validity in caregivers of older adult trauma patients. METHODS: A professional librarian searched published literature from the inception of databases through August 12, 2022 in MEDLINE (via PubMed), Embase (via Elsevier), and CINAHL Complete (via EBSCO). We identified 1063 unique studies of CRQoL in caregivers for adults with injury and performed a systematic review following COnsensus-based Standards for the selection of health Measurement Instruments guidelines for CRQoL measures. RESULTS: From the 66 studies included, we identified 54 health-related quality-of-life measures and 60 domains capturing caregiver-centered concerns. The majority (83%) of measures included six or fewer CRQoL content domains. Six measures were used in caregivers of older adults with single-system injuries. There were no validated CRQoL measures among caregivers of older adult trauma patients with multisystem injuries. CONCLUSIONS: While many measures exist to assess healthcare-related quality of life, few, if any, adequately assess concerns among caregivers of older adult trauma patients. We found that CRQoL domains, including mental health, emotional health, social functioning, and relationships, are most commonly assessed among caregivers. Future measures should focus on reliability and validity in this specific population to guide interventions.


Assuntos
Cuidadores , Qualidade de Vida , Humanos , Idoso , Qualidade de Vida/psicologia , Cuidadores/psicologia , Reprodutibilidade dos Testes , Saúde Mental
2.
Artigo em Inglês | MEDLINE | ID: mdl-38407300

RESUMO

BACKGROUND: The Joint Commission reports at least half of communication breakdowns occur during handovers or transitions of care. There is no consensus on how best to approach the transfer of care within Acute Care Surgery (ACS). We conduct a systematic review and meta-analysis of the current data on handoffs and transitions of care in ACS patients and evaluate the impact of standardization and formalized communication processes. METHODS: Clinically relevant questions regarding handoffs and transitions of care with clearly defined patient Population(s), Intervention(s), Comparison(s), and appropriately selected Outcomes (PICO) were determined. These centered around specific transitions of care within the setting of ACS - specifically perioperative interactions, EMS and trauma team interactions, and intra/inter floor and ICU interactions. A systematic literature review and meta-analysis was conducted utilizing the Grading of Recommendations Assessment, Development and Evaluation (GRADE) methodology. RESULTS: A total of 10 studies were identified for analysis. These included 5,113 patients in the standardized handoff group and 5,293 in the current process group. Standardized handoffs reduced handover errors for perioperative interactions and preventable adverse events for intra/inter floor and ICU interactions. There was insufficient data to evaluate outcomes of clinical complications and medical errors. CONCLUSION: We conditionally recommend a standardized handoff in in the field of ACS, including perioperative interactions, EMS and trauma team interactions, as well as intra-inter floor and ICU interactions. LEVEL OF EVIDENCE: Guideline; Systematic review/meta-analysis, Level III.

3.
Hum Cell ; 37(3): 704-713, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38411836

RESUMO

MYCN (master regulator of cell cycle entry and proliferative metabolism) gene amplification defines a molecular subgroup of spinal cord ependymomas that show high-grade morphology and aggressive behavior. Demonstration of MYCN amplification by DNA methylation or fluorescence-in situ hybridization (FISH) is required for diagnosis. We aimed to (i) assess prevalence and clinicopathological features of MYCN-amplified spinal ependymomas and (ii) evaluate utility of immunohistochemistry (IHC) for MYCN protein as a surrogate for molecular testing. A combined retrospective-prospective study spanning 8 years was designed during which all spinal cord ependymomas with adequate tissue were subjected to MYCN FISH and MYCN IHC. Among 77 spinal cord ependymomas included, MYCN amplification was identified in 4 samples from 3 patients (3/74, 4%) including two (1st and 2nd recurrences) from the same patient. All patients were adults (median age at diagnosis of 32 years) including two females and one male. The index tumors were located in thoracic (n = 2) and lumbar (n = 1) spinal cord. One of the female patients had neurofibromatosis type 2 (NF2). All four tumors showed anaplastic histology. Diffuse expression of MYCN protein was seen in all four MYCN-amplified samples but in none of the non-amplified cases, thus showing 100% concordance with FISH results. On follow-up, the NF2 patient developed widespread spinal dissemination while another developed recurrence proximal to the site of previous excision. To conclude, MYCN-amplified spinal ependymomas are rare tumors, accounting for ~ 4% of spinal cord ependymomas. Within the limitation of small sample size, MYCN IHC showed excellent concordance with MYCN gene amplification.


Assuntos
Ependimoma , Neoplasias da Medula Espinal , Adulto , Humanos , Masculino , Feminino , Proteína Proto-Oncogênica N-Myc/genética , Estudos Retrospectivos , Imuno-Histoquímica , Estudos Prospectivos , Ependimoma/diagnóstico , Ependimoma/genética , Ependimoma/patologia , Neoplasias da Medula Espinal/diagnóstico , Neoplasias da Medula Espinal/genética , Neoplasias da Medula Espinal/patologia , Biomarcadores
4.
Head Neck Pathol ; 17(4): 889-898, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37735287

RESUMO

BACKGROUND: High-risk (HR) Human papillomavirus (HPV) has been implicated in pathogenesis of squamous cell carcinomas (SCC) at several sites with mucocutaneous junctions, including the head and neck. SCC is the second most common eyelid malignancy. However, its association with transcriptionally active HR-HPV has not been adequately studied. METHODS: Two index cases of eyelid HPV-associated SCC are described in detail. A retrospective cohort of eyelid SCC was examined for p16 immunoexpression. Cases demonstrating p16 positivity or equivocal staining were subjected to high-risk HPV mRNA in situ hybridization (ISH). Quantitative real-time PCR (qPCR) was performed in mRNA ISH-positive cases for HPV genotyping. RESULTS: The two index patients were older adult females, with upper eyelid tumours. On histology, both tumours were non-keratinizing SCC with trabecular and nested architecture reminiscent of oropharyngeal HPV-associated non-keratinizing SCC, prompting p16 immunohistochemistry, which was positive. HR-HPV mRNA ISH was positive, and qPCR detected HPV16 in both cases. Three of 20 (15%) archival cases showed p16 immunopositivity and two (10%) showed equivocal staining. However, mRNA ISH was negative. All cases showing p16 immunostaining and lacking HR-HPV were keratinizing SCCs. Thus, 9% of all eyelid SCC examined demonstrated HR-HPV. CONCLUSION: The prevalence of HR-HPV in eyelid SCC is low in Indian patients. HPV-associated SCC may mimic commoner eyelid carcinomas as it lacks overt keratinization. In basaloid-appearing eyelid carcinomas, p16 immunopositivity should be followed by reflex HR-HPV mRNA ISH, as p16 immunohistochemistry alone has low specificity. The prognostic role, if any, of HPV association needs further evaluation.


Assuntos
Carcinoma de Células Escamosas , Neoplasias Palpebrais , Infecções por Papillomavirus , Feminino , Humanos , Idoso , Imuno-Histoquímica , Neoplasias Palpebrais/diagnóstico , Neoplasias Palpebrais/complicações , RNA Mensageiro , Infecções por Papillomavirus/diagnóstico , Estudos Retrospectivos , Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas/patologia , Hibridização In Situ , Pálpebras/química , Pálpebras/patologia , Inibidor p16 de Quinase Dependente de Ciclina/análise , Papillomaviridae/genética , Biomarcadores Tumorais/análise
5.
BMJ Case Rep ; 16(8)2023 Aug 04.
Artigo em Inglês | MEDLINE | ID: mdl-37541697

RESUMO

SummaryA man in 30s had complaints of glabellar and upper nasal swelling for 8 years. It was insidious in onset and gradually progressive causing epiphora and restriction of nasal visual field. Fine-needle aspiration cytology and biopsy revealed features which were suggestive of Kimura's disease (KD). CT scans showed a well-defined subcutaneous swelling in the naso-orbito-ethmoid (NOE) region. KD presents as lymphoglandular swelling; however, NOE region is an uncommon site of occurrence. A thyroid-shaped tumour was excised by H-shaped incision approach to the NOE region.


Assuntos
Doença de Kimura , Fraturas Orbitárias , Fraturas Cranianas , Neoplasias da Glândula Tireoide , Masculino , Humanos , Fraturas Cranianas/cirurgia , Osso Nasal , Nariz/cirurgia
6.
Cancer Cytopathol ; 131(7): 442-453, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-36973972

RESUMO

BACKGROUND: Fine-needle aspiration cytology (FNAC) is the first-line diagnostic procedure for salivary gland masses. Secretory carcinoma (SC) is characterized by ETV6 and RET rearrangements detected by fluorescence in situ hybridization (FISH) or reverse transcriptase-polymerase chain reaction optimized for paraffin-embedded and fresh-frozen tissue, respectively. The authors performed FISH on cytological material to assess its role in the diagnosis of SC. METHODS: FNACs with SC as a diagnostic consideration and cases diagnosed as SC on histology with a corresponding FNAC with any diagnosis were evaluated for ETV6 rearrangement by FISH. If acinic cell carcinoma (ACC) was a differential diagnosis and ETV6 rearrangement was absent, NR4A3 FISH was performed. FISH results were compared with those on histological specimens, where available. RESULTS: Fifteen cases were included. FISH initially performed on three cell blocks did not yield good results, was then performed on direct smears, and was interpretable in 14 cases (93.3%). An ETV6 rearrangement was identified in seven cases (50%), and an NR4A3 rearrangement was identified in three cases (21.4%), providing a confirmatory diagnosis in 10 of 15 cases (66.7%). The Milan System for Reporting Salivary Gland Cytopathology category was altered in two cases (6.7%). Complete correlation (100%) was seen with FISH on corresponding histological specimens. CONCLUSIONS: With minor modifications, the FISH procedure can be optimized for FNAC smears with results comparable to those on histological specimens. ETV6 FISH testing on cytological smears in cases suspected as SC improves the diagnostic accuracy of FNAC and can help lower the proportion of the Milan categories salivary gland neoplasm of uncertain malignant potential and suspicious for malignancy, maximizing diagnostic information from less invasive samples and aiding in patient management.


Assuntos
Carcinoma , Neoplasias das Glândulas Salivares , Humanos , Hibridização in Situ Fluorescente/métodos , Glândulas Salivares/patologia , Neoplasias das Glândulas Salivares/diagnóstico , Neoplasias das Glândulas Salivares/genética , Neoplasias das Glândulas Salivares/patologia , Carcinoma/diagnóstico , Rearranjo Gênico
7.
Diagn Cytopathol ; 51(4): E129-E136, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-36680532

RESUMO

Inactivating mutations of SMARCA4 and accompanying loss of BRG1 immunoexpression were recently identified in majority of sinonasal teratocarcinosarcomas (TCS). These rare and aggressive neoplasms have potential for nodal metastasis, presenting opportunities for diagnosis on fine needle aspiration cytology (FNAC). However, their cytological features have not been described till date. A 22-year-old male was diagnosed to have SMARCA4-deficient TCS on a nasal mass biopsy, and was started on neoadjuvant chemotherapy. Four months later, FNAC from cervical lymph nodes showed predominantly discohesive tumor cells with moderate to abundant cytoplasm and enlarged vesicular nuclei with prominent nucleoli. Occasional cohesive fragments showed ovoid to spindled tumor cells attached to fibrovascular cores. Few loosely cohesive cells with scant cytoplasm and nuclei having stippled chromatin, and rhabdoid cells were also seen. Frequent mitoses, apoptosis and nuclear streaking were evident. Overt squamous or glandular differentiation was absent. Tumor cells showed loss of BRG1 immunostaining and ß-catenin immunopositivity on a cell block, consistent with metastatic SMARCA4-deficient TCS. The diversity of cell types in SMARCA4-deficient TCS can result in a broad spectrum of cytological features that overlap with that of other regional metastatic tumors including neuroendocrine carcinoma, olfactory neuroblastoma and melanoma. Further, all components of TCS as seen in the primary tumor may not be present in nodal metastases. Thus, SMARCA4-deficient TCS should be considered in the differential diagnosis of metastatic poorly/undifferentiated malignancies in cervical lymph node aspirates, and appropriate ancillary tests viz. BRG1 immunostaining employed for accurate diagnosis.


Assuntos
Carcinossarcoma , Neoplasias Nasais , Teratoma , Humanos , Masculino , Adulto Jovem , Biomarcadores Tumorais/genética , Biópsia por Agulha Fina , Carcinossarcoma/diagnóstico , Carcinossarcoma/genética , DNA Helicases/genética , Neoplasias Nasais/patologia , Proteínas Nucleares/genética , Fatores de Transcrição/genética
8.
Diagn Cytopathol ; 51(2): 146-152, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36369994

RESUMO

BACKGROUND: Olfactory neuroblastoma (ONB) is a rare neuroectodermal tumor with a propensity for lymph node and distant metastases in a proportion of cases, presenting opportunities for cytological diagnosis. Insulinoma-associated protein 1 (INSM1) is a recently identified marker of neuroendocrine differentiation with higher sensitivity and specificity than traditional neuroendocrine immunostains used in diagnosis of ONB. METHODS: Archival aspirates diagnosed as metastatic ONB were retrieved and reviewed for described characteristics of ONB. Spare direct smears with sufficient cellular material from each case were selected, if available, and immunocytochemistry for INSM1 was performed on the destained alcohol-fixed smears. INSM1 was also performed on non-neuroendocrine malignant round cell tumors (MRCT). RESULTS: Seven fine needle aspirates (FNA) from five patients were identified, all of which showed a small round cell tumor with fine to coarse granular chromatin. Most cases had moderate to high cellularity, comprised of loosely cohesive clusters and dispersed cells. While two-cell pattern, nuclear streaking and moulding were frequent, background neuropil, fibrillary cytoplasm, and rosettes were uncommon. INSM1 immunostaining performed on spare direct smears showed strong positivity in 30%-100% of tumor cells (mean: 62%) in all aspirates tested (100%). In comparison with other immunostains, INSM1 showed more robust staining, and was easier to interpret. All non-neuroendocrine MRCTs were negative for INSM1. CONCLUSION: Metatstatic ONB can resemble other small round cell tumors, as all the diagnostic features of ONB may not be readily evident. INSM1 immunocytochemistry has high sensitivity and specificity and can reliably be used as a single marker to support the cytomorphology for a confirmatory diagnosis of ONB, even on direct smears if a cell block is not available.


Assuntos
Estesioneuroblastoma Olfatório , Insulinoma , Neoplasias Nasais , Neoplasias Pancreáticas , Humanos , Estesioneuroblastoma Olfatório/diagnóstico , Estesioneuroblastoma Olfatório/patologia , Insulinoma/patologia , Imuno-Histoquímica , Neoplasias Nasais/diagnóstico , Neoplasias Nasais/patologia , Neoplasias Pancreáticas/diagnóstico , Neoplasias Pancreáticas/patologia , Cavidade Nasal/patologia , Biomarcadores Tumorais/metabolismo , Proteínas Repressoras/genética , Proteínas Repressoras/metabolismo
9.
Diagn Cytopathol ; 51(1): E28-E37, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36148935

RESUMO

Distant metastasis from salivary gland secretory carcinoma (SC) is rare, with lung and pleura being the most frequent site. While cytological features of SC on fine needle aspirates are well documented, its morphology in serous effusions has not been described. We describe the cytomorphological features on effusion cytology of two patients with ETV6::NTRK3 fusion-positive SC, who subsequently developed pleural metastases. Cytospin preparations of pleural fluid showed tightly cohesive, irregularly shaped and ball-like clusters of large tumor cells with scant to abundant uni- and multi-vacuolated cytoplasm. Nuclei were eccentrically placed, round to oval, vesicular, with finely granular chromatin, irregular nuclear membranes and conspicuous to prominent nucleoli. With these features, the tumors resembled an adenocarcinoma, indistinguishable from a lung primary. Cell blocks from both cases showed tumor fragments, some of which had the hollow appearance of transversely sectioned cell spheres as seen in lung and breast adenocarcinomas. Immunohistochemistry on cell blocks revealed nuclear pan-TRK positivity in both cases. Case 1 also showed focal mammaglobin staining, and TTF1 negativity. Pleural metastases from SC may mimic other adenocarcinomas. As targeted therapy, that is, selective TRK inhibitors are available for treatment of metastatic disease, NTRK3 fusion status is not only diagnostic, but also required to plan treatment. Pan-TRK immunohistochemistry serves as a viable cost-effective, easy to apply surrogate marker for NTRK3 fusion, particularly in diagnostic laboratories lacking easy access to molecular testing on cytological material.


Assuntos
Carcinoma , Humanos , Imuno-Histoquímica
10.
Neurol India ; 70(4): 1468-1474, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36076645

RESUMO

Background: Intraventricular pilocytic astrocytomas are a rare occurrence, accounting for approximately 4% -15.6% of all pilocytic astrocytomas .The aim of the study was to describe the radiology, surgical management and outcome in 15 patients with histopathologically proven intraventricular pilocytic astrocytoma(IVPA). Objective: To study the clinical presentation radiology and operative challenges in rare intra ventricular pilocytic astrocytomas. Materials and Methods: Between January 2010 and August 2018, 15 patients with histopathologically proven IVPA were identified. The radiological images were obtained from PACS. Patient and surgical details were obtained from the computerized discharge summary, OT records and operative notes, whereas follow up was obtained from the record section. Results: Headache with progressive loss of vision was the most common presentation. Duration of symptoms varied from 4 months to 2 years (mean 9. 88 months). Except one patient, all patients with preoperative CT scan revealed calcifications in the lesion, with extensive calcification in 3 patients. All the tumors were predominantly hypointense on T1WI and iso to hyperintense on T2WI. Lesion in all patients showed heterogenous contrast enhancement on post gadolinium images. Mean blood loss in the series was 1969 ml (range 250 ml- 4500 ml).There was one death in this series due to meningitis and septic shock. Conclusion: IVPAs are rare tumors and are difficult to diagnose in the preoperative period based on the radiologic profile alone. These tumors can be extremely vascular with potential for massive blood loss. These tumors can be associated with extensive calcification and the calcified tumors have less bleeding as expected.


Assuntos
Astrocitoma , Neoplasias Encefálicas , Calcinose , Astrocitoma/diagnóstico por imagem , Astrocitoma/cirurgia , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/cirurgia , Gadolínio , Humanos , Tomografia Computadorizada por Raios X
11.
Appl Immunohistochem Mol Morphol ; 30(6): 410-417, 2022 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-35708480

RESUMO

IDH wild-type (wt) grade 2/3 astrocytomas are a heterogenous group of tumors with disparate clinical and molecular profiles. cIMPACT-NOW recommendations incorporated in the new 2021 World Health Organization (WHO) Classification of Central Nervous System (CNS) Tumors urge minimal molecular criteria to identify a subset that has an aggressive clinical course similar to IDH -wt glioblastomas (GBMs). This paper describes the use of a panel of molecular markers to reclassify IDH -wt grade 2/3 diffuse astrocytic gliomas (DAGs) and study median overall survival concerning for to IDH -wt GBMs in the Indian cohort. IDH -wt astrocytic gliomas (grades 2, 3, and 4) confirmed by IDHR132H immunohistochemistry and IDH1/2 gene sequencing, 1p/19q non-codeleted with no H3F3A mutations were included. TERT promoter mutation by Sanger sequencing, epidermal growth factor receptor amplification, and whole chromosome 7 gain and chromosome 10 loss by fluorescence in situ hybridization was assessed and findings correlated with clinical and demographic profiles. The molecular profile of 53 IDH -wt DAGs (grade 2: 31, grade 3: 22) was analyzed. Eleven cases (grade 2: 8, grade 3: 3) (20.75%) were reclassified as IDH -wt GBMs, WHO grade 4 ( TERT promoter mutation in 17%, epidermal growth factor receptor amplification in 5.5%, and whole chromosome 7 gain and chromosome 10 loss in 2%). Molecular GBMs were predominantly frontal (54.5%) with a mean age of 36 years and median overall survival equivalent to IDH -wt GBMs (18 vs. 19 mo; P =0.235). Among grade 2/3 DAGs not harboring these alterations, significantly better survival was observed for grade 2 versus grade 3 DAGs (25 vs. 16 mo; P =0.002). Through the incorporation of a panel of molecular markers, a subset of IDH -wt grade 2 DAGs can be stratified into molecular grade 4 tumors with prognostic and therapeutic implications. However, IDH -wt grade 3 DAGs behave like GBMs irrespective of molecular profile.


Assuntos
Astrocitoma , Neoplasias Encefálicas , Glioblastoma , Telomerase , Adulto , Astrocitoma/genética , Neoplasias Encefálicas/patologia , Deleção Cromossômica , Receptores ErbB/genética , Glioblastoma/patologia , Humanos , Hibridização in Situ Fluorescente , Isocitrato Desidrogenase/genética , Isocitrato Desidrogenase/metabolismo , Mutação , Telomerase/metabolismo
12.
Int J Rheum Dis ; 25(6): 705-713, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35535671

RESUMO

Progressive multifocal leukoencephalopathy (PML) is a rare demyelinating central nervous system illness encountered in the setting of immunosuppressive conditions like human immunodeficiency virus / acquired immunodeficiency syndrome, autoimmune diseases and hematologic malignancies. We had a 54-year-old woman with systemic lupus erythematosus and coexisting autoimmune hepatitis who presented with progressive cognitive decline, right hemiparesis and ataxia who was found to have PML. She had severe CD4 lymphopenia. She was managed with low-dose prednisolone and plasma exchange after which she showed significant clinical improvement. This case highlights the diagnostic and therapeutic challenges encountered in managing a case of PML in the setting of autoimmune conditions with profound lymphopenia.


Assuntos
Hepatite Autoimune , Leucoencefalopatia Multifocal Progressiva , Lúpus Eritematoso Sistêmico , Linfopenia , Feminino , Hepatite Autoimune/complicações , Hepatite Autoimune/diagnóstico , Hepatite Autoimune/tratamento farmacológico , Humanos , Imunossupressores/uso terapêutico , Leucoencefalopatia Multifocal Progressiva/diagnóstico , Leucoencefalopatia Multifocal Progressiva/tratamento farmacológico , Leucoencefalopatia Multifocal Progressiva/etiologia , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/diagnóstico , Lúpus Eritematoso Sistêmico/tratamento farmacológico , Pessoa de Meia-Idade
13.
Head Neck Pathol ; 16(1): 331-337, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-34184156

RESUMO

Endocrine mucin-producing sweat gland carcinoma (EMPSCG) is a rare, low-grade cutaneous adnexal neoplasm with evidence of neuroendocrine differentiation, predominantly involving the eyelids of elderly. It has a striking resemblance to solid papillary carcinoma of breast which similarly displays neuroendocrine features. EMPSGC is considered a precursor of cutaneous mucinous carcinoma, and the term "mucinous carcinoma" is also recommended for hybrid lesions which reveal an invasive mucinous component associated with EMPSGC. While local recurrences are well- documented in EMPSGC, metastases had not been encountered until very recently; two reports in the past year have described metastases from eyelid EMPSGC to the parotid gland after a prolonged interval from the primary presentation. We report the case of a 78-year-old male with eyelid EMPSGC metastatic to the parotid gland nine years after excision of the primary tumor, which had initially been diagnosed as a poorly differentiated carcinoma. Development of metastasis after a prolonged interval is similar to both the previously described cases, and emphasizes the need to reevaluate the stated indolent nature of this neoplasm. It also aims to draw attention of pathologists to this uncommon tumor of the eyelid which is often misdiagnosed on primary presentation.


Assuntos
Adenocarcinoma de Células Claras , Adenocarcinoma Mucinoso , Neoplasias Císticas, Mucinosas e Serosas , Tumores Neuroendócrinos , Neoplasias das Glândulas Sudoríparas , Adenocarcinoma Mucinoso/patologia , Idoso , Humanos , Masculino , Mucinas , Tumores Neuroendócrinos/patologia , Glândula Parótida/patologia , Neoplasias das Glândulas Sudoríparas/patologia , Glândulas Sudoríparas/patologia
14.
Neurooncol Pract ; 8(6): 652-661, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34777834

RESUMO

In recent years, it has been established that molecular biology of pediatric low-grade gliomas (PLGGs) is entirely distinct from adults. The majority of the circumscribed pediatric gliomas are driven by mitogen-activated protein kinase (MAPK) pathway, which has yielded important diagnostic, prognostic, and therapeutic biomarkers. Further, the Consortium to Inform Molecular and Practical Approaches to CNS Tumor Taxonomy (cIMPACT) Steering Committee in their fourth meeting, suggested including a panel of molecular markers for integrated diagnosis in "pediatric-type" diffuse gliomas. However, a designated set of platforms for the evaluation of these alterations has yet not been mentioned for easier implementation in routine molecular diagnostics. Herein, we have reviewed the relevance of analyzing these markers and discussed the strategies and platforms best apposite for clinical laboratories.

15.
Neurol India ; 69(5): 1176-1183, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34747781

RESUMO

BACKGROUND: IgG4-related disease (IgG4RD) is a multisystemic progressive fibroinflammatory and lymphoproliferative autoimmune disorder of unknown etiopathogenesis; and its occurrence in intradural extramedullary (IDEM) location is extremely rare. AIM AND OBJECTIVE: The aim of this study was to review all IDEM IgG4RD cases described in English literature and to signify the role of surgery in its management at this rare location along with the surgical technique and intraoperative findings. METHODS: An Internet-based search (PubMed) for the published reports describing spinal cases of IgG4RD with IDEM involvement was done using the keyword: spinal IgG4-related disease. An illustration of a case of cranial IgG4-related disease in a young man who developed metachronous cervical involvement in intradural extramedullary (IDEM) location is also presented. RESULTS: Amongst 45 spinal IgG4RD cases reported in English Literature, only 3 cases were IDEM IgG4RD. In the illustrated case, portion of the cervical lesion causing cervical cord encasement was intradural but extraarachnoidal- located between arachnoid and dura, without any pial involvement. All these 4 cases improved following surgery. CONCLUSION: Timely meticulous resection of mass lesion in situations of medical treatment failure or progressive neurological decline can lead to reversibility of mass effect-associated neurological manifestations of IgG4RD.


Assuntos
Doenças Autoimunes , Doença Relacionada a Imunoglobulina G4 , Dura-Máter , Humanos , Masculino
17.
Neurol Sci ; 42(3): 925-934, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32666407

RESUMO

PURPOSE: H3K27M mutant diffuse midline gliomas (DMGs) are considered grade IV irrespective of histological features and have dismal prognosis. We evaluated clinico-pathologic, radiological, and molecular characteristics of DMGs across all ages. METHODS: One twenty-six DMGs were identified over 10 years. Immunohistochemistry was done for H3K27M, ATRX, IDH1, and p53, and Sanger sequencing performed for IDH1 and H3K27M mutation. Patient demographics and clinico-radiologic characteristics were reviewed and survival analysis performed. RESULTS: DMGs comprised 5.3% of all gliomas with 49.2% H3K27M mutant and 50.8% wild types. Majority (75.68%) of pediatric and 38.20% of adults were H3K27M mutant (p = 0.0001). Amongst H3K27M mutants, brainstem (46.43%) was the commonest location in pediatric and thalamus (61.76%) in adults. H3K27M mutation was mutually exclusive with IDH mutation in 93.55%, while p53, ATRX mutation were seen in 56.4% and 30.6% cases respectively. Software-based immunohistochemistry evaluation (H-scoring) showed 99.2% concordance with sequencing for H3K27M mutation. Radiologically, no significant difference in contrast enhancement was seen between mutant and wild types (p = 0.05). The difference in overall survival (OS) was not significant in mutant versus wild types, with age or location. Tumor resection independently and on correlation with H3K27M did not influence OS (p = 0.51 and p = 0.47). Adjuvant therapy impacted survival significantly in adults (p = 0.0009), however, not in pediatric cases (p = 0.06). CONCLUSIONS: The study highlights the differences in frequency and location of pediatric and adult DMGs. IHC (H-scoring) for H3K27M mutation is an excellent surrogate for sequencing. Prognosis remains dismal irrespective of age, location, and H3K27M status. Potential therapeutic targets need to be explored.


Assuntos
Neoplasias Encefálicas , Glioma , Adulto , Neoplasias Encefálicas/genética , Criança , Glioma/genética , Histonas/genética , Humanos , Isocitrato Desidrogenase/genética , Mutação , Prognóstico
18.
Cardiol Rev ; 29(1): 26-32, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-32769626

RESUMO

The term "Wake-Up Stroke" is applied to a patient who displays no symptoms before sleep, but wakes with neurologic deficits suggestive of stroke. The current guidelines for acute ischemic stroke limit intravenous tissue plasminogen activator use to stroke patients in whom symptom onset or last known well is less than 4.5 hours. Approximately one-third of acute ischemic stroke patients present with unknown time of symptom onset and are often not eligible for intravenous reperfusion therapy in clinical practice. This review provides an overview of several earlier trials that used advanced neuroimaging to determine eligibility for reperfusion therapy in patients with unknown stroke onset. The reassuring results of these earlier trials that led to recent thrombolysis trials specifically targeted at "wake-up stroke" patients are discussed in this review. Ongoing studies aim to expand our knowledge regarding the safety and efficacy of thrombolysis in these patients.


Assuntos
Isquemia Encefálica , AVC Isquêmico , Acidente Vascular Cerebral , Isquemia Encefálica/tratamento farmacológico , Fibrinolíticos/uso terapêutico , Humanos , Acidente Vascular Cerebral/tratamento farmacológico , Terapia Trombolítica , Ativador de Plasminogênio Tecidual/uso terapêutico
19.
Cardiol Rev ; 29(1): 20-25, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-32732490

RESUMO

Spontaneous nontraumatic intracerebral hemorrhage is associated with high morbidity and mortality. Given the risk of rapid neurological deterioration, early identification with rapid neuroimaging is vital. Predictors of outcome, such as spot sign and intracerebral hemorrhage score, can help guide management goals. Management should be aimed at prevention of hematoma expansion, treatment of increased intracranial pressure, and prevention of secondary brain injury and medical complications.


Assuntos
Hemorragia Cerebral , Tomografia Computadorizada por Raios X , Angiografia Cerebral , Hemorragia Cerebral/diagnóstico , Progressão da Doença , Hematoma/diagnóstico por imagem , Humanos
20.
Cardiol Rev ; 29(1): 33-38, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33278119

RESUMO

Unruptured intracranial aneurysms measuring <7 mm in diameter have become increasingly prevalent due to advances in diagnostic imaging. The most feared complication is aneurysm rupture leading to a subarachnoid hemorrhage. Based on the current literature, the 3 main treatments for an unruptured intracranial aneurysm are conservative management with follow-up imaging, endovascular coiling, or surgical clipping. However, there remains no consensus on the best treatment approach. The natural history of the aneurysm and risk factors for aneurysm rupture must be considered to individualize treatment. Models including population, hypertension, age, size of aneurysm, earlier subarachnoid hemorrhage from a prior aneurysm, site of aneurysm score, Unruptured Intracranial Aneurysm Treatment Score, and advanced neuroimaging can assist physicians in assessing the risk of aneurysm rupture. Macrophages and other inflammatory modulators have been elucidated as playing a role in intracranial aneurysm progression and eventual rupture. Further studies need to be conducted to explore the effects of therapeutic drugs targeting inflammatory modulators.


Assuntos
Aneurisma Roto , Hipertensão , Aneurisma Intracraniano , Hemorragia Subaracnóidea , Aneurisma Roto/epidemiologia , Humanos , Aneurisma Intracraniano/diagnóstico , Aneurisma Intracraniano/epidemiologia , Aneurisma Intracraniano/terapia , Fatores de Risco , Hemorragia Subaracnóidea/epidemiologia , Hemorragia Subaracnóidea/terapia
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