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3.
J Laryngol Otol ; 137(8): 925-929, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-36651334

RESUMO

OBJECTIVE: A standard lateral neck dissection should yield at least 18 lymph nodes. The goal of the present study was to examine what factors might influence the number of lymph nodes retrieved during a neck dissection. METHODS: This was a retrospective cohort study in a tertiary academic referral centre for head and neck oncology. Two hundred and nineteen consecutive neck dissections were examined. Age of the patient and primary site were recorded, along with tumour histology, previous radiotherapy and final nodal count. RESULTS: The mean age was 62.2 ± 13.0 years. The most common primary site was the oral cavity (38.8 per cent). The mean number of lymph nodes was 30.63 ± 13.9. In total, 17.8 per cent had undergone previous radiotherapy. The mean number of lymph nodes was 33.26 ± 13.27 in patients with no previous radiation exposure and 18.47 ± 9.46 in those with previous radiation treatment. CONCLUSION: Lymph node yield from a neck dissection is likely multi-factorial in nature. Previous radiotherapy, the only significant contributor, led to a mean reduction of lymph node yield from 33.3 to 18.5.


Assuntos
Neoplasias de Cabeça e Pescoço , Esvaziamento Cervical , Humanos , Pessoa de Meia-Idade , Idoso , Estudos Retrospectivos , Linfonodos/cirurgia , Linfonodos/patologia , Neoplasias de Cabeça e Pescoço/cirurgia , Neoplasias de Cabeça e Pescoço/patologia , Pescoço/patologia , Estadiamento de Neoplasias
4.
Blood Adv ; 7(7): 1297-1307, 2023 04 11.
Artigo em Inglês | MEDLINE | ID: mdl-36417763

RESUMO

Detection of hallmark genomic aberrations in acute myeloid leukemia (AML) is essential for diagnostic subtyping, prognosis, and patient management. However, cytogenetic/cytogenomic techniques used to identify those aberrations, such as karyotyping, fluorescence in situ hybridization (FISH), or chromosomal microarray analysis (CMA), are limited by the need for skilled personnel as well as significant time, cost, and labor. Optical genome mapping (OGM) provides a single, cost-effective assay with a significantly higher resolution than karyotyping and with a comprehensive genome-wide analysis comparable with CMA and the added unique ability to detect balanced structural variants (SVs). Here, we report in a real-world setting the performance of OGM in a cohort of 100 AML cases that were previously characterized by karyotype alone or karyotype and FISH or CMA. OGM identified all clinically relevant SVs and copy number variants (CNVs) reported by these standard cytogenetic methods when representative clones were present in >5% allelic fraction. Importantly, OGM identified clinically relevant information in 13% of cases that had been missed by the routine methods. Three cases reported with normal karyotypes were shown to have cryptic translocations involving gene fusions. In 4% of cases, OGM findings would have altered recommended clinical management, and in an additional 8% of cases, OGM would have rendered the cases potentially eligible for clinical trials. The results from this multi-institutional study indicate that OGM effectively recovers clinically relevant SVs and CNVs found by standard-of-care methods and reveals additional SVs that are not reported. Furthermore, OGM minimizes the need for labor-intensive multiple cytogenetic tests while concomitantly maximizing diagnostic detection through a standardized workflow.


Assuntos
Aberrações Cromossômicas , Leucemia Mieloide Aguda , Humanos , Hibridização in Situ Fluorescente , Leucemia Mieloide Aguda/diagnóstico , Leucemia Mieloide Aguda/genética , Cariótipo , Mapeamento Cromossômico
5.
Int J Oral Maxillofac Surg ; 50(8): 999-1002, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-33317906

RESUMO

The purpose of this study was to investigate whether the time delay between 'out of house' proprietary virtual surgical planning (OH-VSP) of the mandibular resection for oral cancer and the actual surgery results in compromised margins and oncological disadvantage for the patient. Outcomes of patients who had OH-VSP of their mandibular resection and reconstruction were compared with those of patients who had the same surgery using a conventional non-VSP approach. The groups were similar in patient demographics, tumour stage and size, nodal status, and reconstruction complexity. VSP resulted in a significant reduction in operating time (P<0.01). VSP did not affect bony (P=0.49) or soft tissue (P=0.22) margin status. In summary, VSP reduced the operating theatre time, and despite the time interval between bony resection planning and surgery, there was no compromise to the oncological safety of the operation.


Assuntos
Retalhos de Tecido Biológico , Reconstrução Mandibular , Neoplasias Bucais , Cirurgia Assistida por Computador , Fíbula , Humanos , Mandíbula/cirurgia , Neoplasias Bucais/cirurgia
6.
Oral Oncol ; 115: 105097, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33229202

RESUMO

BACKGROUND: Tracheal stoma recurrence following oral cavity surgery is exceedingly rare. Although several different mechanisms for this have been described, the pathogenesis still remains uncertain. METHODS: We present the case of a gentleman who presented 6-months following oral cavity SCC resection with a large fungating mass at his previous tracheostomy site, and also review the reported literature on this rare phenomenon. RESULTS: Four weeks after diagnosis of his recurrence he underwent a total laryngectomy, wide-local skin excision and reconstruction with a pectoralis major pedicled flap. He recovered well initially following his operation, however unfortunately contracted nosocomial SARS-Cov2 and succumbed from respiratory complications during his post-operative recovery. CONCLUSION: Stomal recurrence after temporary tracheostomy for oral cavity malignancies are very rare. Previously reported management of these can vary from surgical to palliative treatment. Methods to prevent these include delaying tracheostomy until after surgical resection, packing the pharynx during resection and adjuvant radiotherapy.


Assuntos
Boca/cirurgia , Traqueostomia/métodos , Humanos , Masculino , Pessoa de Meia-Idade , Boca/patologia
8.
Ir J Med Sci ; 186(1): 89-95, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-27083464

RESUMO

BACKGROUND AND OBJECTIVES: Medullary thyroid cancer consists of a spectrum of disease that ranges from extremely indolent tumors to aggressive types associated with a high mortality rate. The objective of our study is to evaluate the prognostic factors and outcomes of patients diagnosed with MTC in a homogenous population, and to examine patients diagnosed with MTC for mutations in the RET proto-oncogene from the same period. METHODS: A retrospective analysis of the National Cancer Registry in Ireland was undertaken, between 1998 and 2007. The Kaplan-Meier method was used to determine overall survival and factors predictive of outcome were determined by univariate and multivariate analysis by cox regression using Stata 13 software. MAIN FINDINGS: Forty-three patients were diagnosed with medullary thyroid cancer, 55.8 % were female and 44.2 % were male. A median age of 52 was found. The overall median survival was 6.32 years and the 1- and 5-year overall survival was 88.37 and 62.79 %, respectively, with 10-year survival calculated at 48.63 %. On univariate analysis age, stage and surgical intervention were statistically significant indicators of prognosis. T stage and age remained statistically significant indicators of prognosis on multivariate analysis. Two patients with no history of MEN syndromes or family history of medullary thyroid cancer had RET proto-onocogene mutations. CONCLUSIONS: Our patient cohort was substantially older and presented at an advanced T status than what is commonly seen in the literature. This may account for poor survival outcomes and the very low pick-up of RET mutations in sporadic medullary thyroid cancer.


Assuntos
Carcinoma Neuroendócrino/patologia , Proteínas Proto-Oncogênicas c-ret/genética , Neoplasias da Glândula Tireoide/patologia , Adolescente , Adulto , Idoso , Carcinoma Neuroendócrino/genética , Feminino , Humanos , Irlanda , Masculino , Pessoa de Meia-Idade , Mutação , Prognóstico , Proto-Oncogene Mas , Sistema de Registros , Estudos Retrospectivos , Neoplasias da Glândula Tireoide/genética , Adulto Jovem
9.
Cancer Genet ; 209(4): 119-29, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26880400

RESUMO

The development of targeted therapies based on specific genomic alterations has altered the treatment and management of lung and colorectal cancers. Chromosomal microarray (CMA) has allowed identification of copy number variations (CNVs) in lung and colorectal cancers in great detail, and next-generation sequencing (NGS) is used extensively to analyze the genome of cancers for molecular subtyping and use of molecularly guided therapies. The main objective of this study was to evaluate the utility of combining CMA and NGS for a comprehensive genomic assessment of lung and colorectal adenocarcinomas, especially for detecting drug targets. We compared the results from NGS and CMA data from 60 lung and 51 colorectal tumors. From CMA analysis, 33% were amplified, 89% showed gains, 75% showed losses and 41% demonstrated loss of heterozygosity; pathogenic variants were identified in 81% of colon and 67% lung specimens through NGS. KRAS mutations commonly occurred with loss in TP53 and there was significant loss of BRCA1 and NF1 among male patients with lung cancer. For clinically actionable targets, 23% had targetable CNVs when no pathogenic variants were detected by NGS. The data thus indicate that combining the two approaches provides significant benefit in a routine clinical setting not available by NGS alone.


Assuntos
Neoplasias Colorretais/genética , Neoplasias Pulmonares/genética , Ativação Transcricional/genética , Aberrações Cromossômicas , Estudos de Coortes , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Perda de Heterozigosidade , Masculino , Análise Serial de Tecidos/métodos
10.
Ir J Med Sci ; 185(3): 757-760, 2016 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-26702623

RESUMO

INTRODUCTION: A large proportion of malignancies involving the external nose can be managed with limited resection and local autologous reconstruction or, in some cases, radiotherapy as primary or adjuvant treatment. We highlight a small cohort of patients undergoing total rhinectomy for advanced nasal malignancies. METHODS: A retrospective review of all patients undergoing total rhinectomy in our institution from 2006 to 2014 was undertaken. We reviewed patient demographics, surgical management, adjuvant treatment, histology, reconstruction and outcomes. RESULTS: Nine patients underwent total rhinectomy over an 8-year period, three of whom were being treated for recurrent disease. Eight patients had squamous cell carcinoma (SCC) and a single patient had an angiosarcoma. Two patients completed adjuvant radiotherapy. Seven patients underwent nasal prosthetic rehabilitation. All nine patients are alive and disease free at latest follow-up. CONCLUSION: Total rhinectomy is an uncommon procedure usually undertaken for extensive nasal malignancy. Nasal prosthetic rehabilitation is a viable method of reconstruction.


Assuntos
Carcinoma de Células Escamosas/cirurgia , Neoplasias Nasais/cirurgia , Nariz/cirurgia , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Radioterapia Adjuvante , Estudos Retrospectivos , Rinoplastia/métodos , Resultado do Tratamento
11.
Ir J Med Sci ; 185(1): 183-7, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25673165

RESUMO

AIM: Surfing is increasing in popularity in Ireland. Exostoses of the external auditory canal are a common finding in those who surf in cold water. The aim of this study was to examine the prevalence of external canal exostoses in a population of Irish surfers. METHODS: A cross-sectional study of Irish surfers was carried out. Patients were examined and questioned on their knowledge of exostoses, surfing routine, use of barrier protection and symptoms experienced. RESULTS: 119 surfers were analysed. 66 % of the surfers examined exhibited exostoses and 88 % were unaware of their diagnosis. Those that developed exostoses had surfed for a mean of 5,028 h, those that did not had surfed for a significantly shorter mean of 1,909 h (p = 0.0002). CONCLUSIONS: This is first study of this nature in the UK or Ireland. With a 5- to 6-year lag phase for exostoses to develop, these patients are likely to become an increasing part of Otolaryngologist's workload.


Assuntos
Otopatias/epidemiologia , Exostose/epidemiologia , Esportes , Adolescente , Adulto , Estudos Transversais , Meato Acústico Externo , Feminino , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Irlanda/epidemiologia , Masculino , Pessoa de Meia-Idade , Prevalência , Adulto Jovem
12.
Ir Med J ; 108(6): 182-3, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26182805

RESUMO

We report the first case of an anterior laryngeal web post gunshot wound in the modern literature. A 27 year-old man suffered a close range shotgun injury to his neck. He presented with stridor and a large open neck wound. Emergency tracheostomy was required. A postoperative fibreoptic laryngoscopy revealed anterior glottic web formation. This case report highlights the difficulties in managing acquired anterior laryngeal webs and reviews the only other case in the in the literature from 1915.


Assuntos
Doenças da Laringe/etiologia , Laringe/lesões , Laringe/patologia , Ferimentos por Arma de Fogo/patologia , Adulto , Disfonia/etiologia , Humanos , Doenças da Laringe/patologia , Laringe/cirurgia , Masculino , Ferimentos por Arma de Fogo/cirurgia
13.
Ir J Med Sci ; 184(3): 583-90, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25894281

RESUMO

BACKGROUND: Adenoid cystic carcinoma is a malignant tumour of major and minor salivary glands. Distant metastasis and poor survival are persistent in the literature, with recent publications aimed at understanding molecular pathogenesis and development of pharmaceutical therapeutic options. AIM: Provide an update of recent studies in the management of adenoid cystic carcinoma of the head and neck. METHODS: Literature search using Medline, Scopus, Google Scholar, the Cochrane Database of Systematic Reviews and the Cochrane central register of controlled trials for articles on adenoid cystic carcinoma from January 2005 to January 2015. CONCLUSION: Adenoid cystic carcinoma is characterized by a slow growing mass, with distant metastasis independent of local or regional control. Primary tumour resection remains the preferred option with radiotherapy having an adjuvant role. Recent advances have been made with novel targeted therapies however, limited to clinical trials and advanced disease.


Assuntos
Carcinoma Adenoide Cístico/terapia , Neoplasias de Cabeça e Pescoço/terapia , Neoplasias de Cabeça e Pescoço/patologia , Humanos , Radioterapia Adjuvante
14.
Clin Microbiol Infect ; 20(7): O450-2, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-24329850

RESUMO

Metronidazole may be of use in the treatment of infectious mononucleosis (IM). Our aim is to show that metronidazole shortens hospital stay for patients with severe IM. A single-centre randomized controlled trial was undertaken in patients admitted with severe IM, who were with a similar group treated by the standard care. Patients were blinded to which treatment arm they were in. Forty-two of these patients were enrolled in the trial. The primary endpoint was the difference in length of stay. This was significantly less in the metronidazole group (3.67 days v 4.67) (p 0.032). This study demonstrates that metronidazole has a role to play in severe infectious mononucleosis.


Assuntos
Anti-Infecciosos/uso terapêutico , Mononucleose Infecciosa/tratamento farmacológico , Metronidazol/uso terapêutico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Tempo de Internação , Masculino , Pessoa de Meia-Idade , Método Simples-Cego , Resultado do Tratamento , Adulto Jovem
15.
Ir J Med Sci ; 182(4): 609-14, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23526234

RESUMO

BACKGROUND: Diseases of the Ear, Nose and Throat (ENT) make up a considerable proportion of the everyday workload of general practitioners (GPs). It is recognized that ENT makes up a very small part of the undergraduate curriculum, but some post-graduate training schemes are now offering placements in Otolaryngology. AIM: The aim of the study was to examine a perceived knowledge 'gap' of GPs in the area of Otolaryngology. METHOD: A postal questionnaire was sent to 1,000 GPs distributed evenly throughout the country. RESULTS: There was a 47.3 % response rate; 72 % of GPs felt that they would see at least three or more children with a relevant ENT problem each day. Almost 70 % of GPs had less than a month exposure to ENT in medical school and 84 % of GPs felt that further emphasis was required at the undergraduate level. Twenty-one per cent of GPs surveyed had spent some time in Postgraduate ENT training. Ninety-one per cent of GPs agreed that further emphasis on ENT training was required at the Postgraduate level. CONCLUSION: General Practitioners feel that increased importance should be placed on the study of Otolaryngology at both undergraduate and Postgraduate level.


Assuntos
Atitude do Pessoal de Saúde , Medicina de Família e Comunidade/educação , Clínicos Gerais/educação , Conhecimentos, Atitudes e Prática em Saúde , Otolaringologia/educação , Currículo , Educação de Pós-Graduação em Medicina , Educação de Graduação em Medicina , Clínicos Gerais/psicologia , Humanos , Inquéritos e Questionários , Carga de Trabalho
16.
J Laryngol Otol ; 127(2): 187-91, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23290450

RESUMO

INTRODUCTION: Anecdotally, infectious mononucleosis is considered a more severe infection than bacterial tonsillitis, requiring a longer hospital stay. However, there is little in the literature comparing the epidemiology of the two conditions. This study aimed to compare the epidemiology of bacterial tonsillitis and infectious mononucleosis, in particular any differences in the length of in-patient stay. METHODOLOGY: The hospital in-patient enquiry system was used to analyse patients admitted with bacterial tonsillitis and infectious mononucleosis between 1990 and 2009 inclusive. RESULTS: There was a total of 3435 cases over the 20 years: 3064 with bacterial tonsillitis and 371 with infectious mononucleosis. The mean length of stay was 3.22 days for bacterial tonsillitis and 4.37 days for infectious mononucleosis. The median length of stay for each condition was compared using the Mann-Whitney U non-parametric test, and a significant difference detected (p < 0.001). CONCLUSION: Patients with infectious mononucleosis have a significantly longer stay in hospital than those with bacterial tonsillitis.


Assuntos
Mononucleose Infecciosa/epidemiologia , Tempo de Internação/estatística & dados numéricos , Tonsilite/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Incidência , Irlanda/epidemiologia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Tonsilite/microbiologia , Adulto Jovem
17.
Ir Med J ; 105(3): 78-80, 2012 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-22558813

RESUMO

We present a review of patients from Eastern Europe who have recently immigrated to Ireland with complicated otological disease. We carried out a retrospective chart review of these patients. These are a complicated cohort of 7 patients, 5 (71.4%) of whom had previous ear surgery, none had old notes and there was often a need for interpreters (3 or 42.8%) and challenging surgery. Follow up was also problematic with many of the patients. In summary this is a case series to highlight a relatively new group of patients to emphasize the need for pre-operative CT scans, facial nerve monitoring and the difficult nature of revision surgery with no old notes.


Assuntos
Otopatias/cirurgia , Emigração e Imigração , Processo Mastoide/cirurgia , Adulto , Comunicação , Otopatias/diagnóstico por imagem , Otopatias/etnologia , Europa Oriental/etnologia , Feminino , Humanos , Irlanda , Idioma , Masculino , Processo Mastoide/diagnóstico por imagem , Radiografia , Reoperação , Estudos Retrospectivos
19.
J Assoc Genet Technol ; 37(2): 76-9, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21654070

RESUMO

Mucosa-associated lymphoid tissue (MALT) lymphoma is a type of B-cell non-Hodgkin lymphoma that can originate in the gastrointestinal (GI) tract, thyroid, breasts, lungs, and skin. The most common genetic abnormality occurring in MALT lymphomas involves t(11;18)(q21;q21) in the gene MALT1. This translocation results in a chimeric fusion product between the genes ATI2 and MALT1, which generates a survival advantage in the lymphoma cells. The MALT1 disruption is more common in some MALT lymphomas, distinguished by site, than others. If identified, this variation in frequency could affect treatment courses and outcomes for each type of MALT lymphoma. The study included 109 MALT lymphoma sample specimens. The sample paraffin-embedded slides were pretreated, hybridized for FISH using a MALT1 break-apart probe, post-washed, and viewed using a fluorescent microscope. On each slide, 100 individual cells were counted by two independent readers, totaling 200 cells per case, and the percentage of cells containing a translocation within each sample was recorded. A conservative threshold of 8% was used to make a positive call. There were a total of 18 positive results in the 109 samples tested. The tissue specimens tested that yielded positive results include the colon (62.5%), lung (57.14%), skin (25%), eyelid/lacrimal gland (16.67%), stomach (6.45%), kidney (50%), and thyroid (100%). The sites that yielded only negative results (0%) include the breast, salivary gland, salivary gland/parotid, soft tissue/skin, conjunctiva/orbital, small intestine, nasal, and epidural mass. As hypothesized, a variation in the MALT1 disruption was found. This is the first study to examine MALT1 disruption in the soft tissue, nasal, and epidural mass. The positive results of this study, specifically the results for the colon and lung, and the negative breast and salivary gland results are consistent with previous studies examining the genetic aberrations in MALT lymphomas. These results indicate that MALT lymphoma at different locations differentially display MALT1 disruption, and these disruptions may be responsible for the variance in patient response to therapy. Surgery, radiation therapy, and/or administration of cladribine (2CdA) result in the best outcomes in treating MALT lymphomas with MALT1 disruption.

20.
J Assoc Genet Technol ; 37(2): 80-3, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21654071

RESUMO

The University of Texas M.D. Anderson Cancer Center (UTMDACC), Department of Pathology and Laboratory Medicine is committed to the endless pursuit of innovative research, education, training and administration for the prevention, diagnosis and clinical management of cancer and associated diseases. The molecular genetic technology professional development model promotes personal development, recognizes increased competencies, and sets high standards for all skills and services provided. There are four competency levels that comprise our Professional Development Model (PDM): Discovery, Application, Maturation, and Expert. The skill, knowledge, education, and certification requirements for each level are defined based on the business needs of each lab. When a genetic technologist successfully completes all skills, knowledge, proficiency, education and certification requirements within the appropriate time frame for a particular competency level, his/her salary would be adjusted to the entry point for the competency level he/she has completed.

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