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1.
Dis Esophagus ; 33(4)2020 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-31608935

RESUMO

Nutrition and post-operative feeding in oesophageal cancer resections for enhanced recovery remain a controversial subject. Feeding jejunostomy tubes (FJT) have been used post-operatively to address the subject but evidence to support its routine use is contentious. There is currently no data on FJT use in England for oesophageal cancer resections. Knowledge regarding current FJT usage, and rationale for its use may provide a snapshot of the trend and current standing on FJT use by resectional units in England. A standardised survey was sent electronically to all oesophageal resectional units in the United Kingdom (UK) between October 2016 and January 2018. In summary, the questionnaire probes into current FJT use, rationale for its usage, consideration of cessation of its use, and rationale of cessation of its use for units not using FJT. The resectional units were identified using the National Oesophago-Gastric Cancer Audit (NOGCA) progress report 2016 and 1 selected resectional unit from Northern Ireland, Scotland, and Wales, respectively. Performance data of those units were collected from the 2017 NOGCA report. Out of 40 units that were eligible, 32 (80.0%) centres responded. The responses show a heterogeneity of FJT use across the resectional centres. Most centres (56.3%) still place FJT routinely with 2 of 18 (11.1%) were considering stopping its routine use. FJT was considered a mandatory adjunct to chemotherapy in 3 (9.4%) centres. FJT was not routinely used in 9 (28.1%) of centres with 5 of 9 (55.6%) reported previous complications and 4 of 9 (44.4%) cited using other forms of nutrition supplementation as factors for discontinuing FJT use. There were 5 (15.6%) centres with divided practice among its consultants. Of those 2 of 5 (40.0%) were considering stopping FJT use, and hence, a total of 4 of 23 (17.4%) of units are now considering stopping routine FJT use. In conclusion, the wider practice of FJT use in the UK remains heterogenous. More research regarding the optimal post-operative feeding regimen needs to be undertaken.


Assuntos
Nutrição Enteral/estatística & dados numéricos , Neoplasias Esofágicas/cirurgia , Esofagectomia/reabilitação , Jejunostomia/estatística & dados numéricos , Padrões de Prática Médica/estatística & dados numéricos , Recuperação Pós-Cirúrgica Melhorada , Pesquisas sobre Atenção à Saúde , Humanos , Reino Unido
2.
Philos Trans A Math Phys Eng Sci ; 377(2139): 20180018, 2019 Feb 25.
Artigo em Inglês | MEDLINE | ID: mdl-30966932

RESUMO

Volcanism is the surface expression of magma intrusion, crystallization, assimilation and hybridization processes operating throughout the crust over a range of time periods. Many magmas, including those erupted at subduction zones, have complex textures that reflect these processes. Here, we use textural and geochemical characteristics of calcic amphiboles to help identify multiple ingredients of subduction zone magmatism at Mt Lamington volcano, Papua New Guinea. Our approach uses existing trace element partitioning schemes to calculate the compositions of amphibole equilibrium melts (AEMs). The AEM compositions show that Mt Lamington andesites and plutonic enclaves are dominated by fractionation of amphibole + plagioclase + biotite, with assimilation of plagioclase and zircon. Magnesiohastingsite crystals in the andesite and diktytaxitic mafic enclaves reflect multiple episodes of recharge by more primitive, geochemically variable melts. The andesite also contains clots with rounded grains and melt on grain boundaries. These features indicate slow crystallization, and the retention of melt films could significantly enhance the potential for remobilization of crystals by infiltrating melts or during magma mixing. Variations in crystallization conditions could thus significantly affect the mush microstructure. We suggest that this could result in a significant bias of the volcanic record towards the preferential incorporation of more slowly cooled plutonic material from the lower crust or from more thermally mature plumbing systems. This article is part of the Theo Murphy meeting issue 'Magma reservoir architecture and dynamics'.

3.
Diabet Med ; 36(1): 70-79, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30156335

RESUMO

AIMS: Attendance at structured diabetes education has been recommended internationally for all people with Type 2 diabetes. However, attendance rates are consistently low. This qualitative study aimed to explore experiences of attending and delivering Type 2 diabetes structured education programmes in Ireland and barriers and facilitators to attendance. METHODS: People with Type 2 diabetes who had attended one of the three programmes delivered in Ireland and educators from the three programmes took part in semi-structured telephone interviews. Interviews were audio-taped, transcribed and analysed using inductive thematic analysis. RESULTS: Twelve attendees and 14 educators were interviewed. Two themes were identified in relation to experiences of programme attendance and delivery: 'Structured education: addressing an unmet need' and 'The problem of non-attendance'. The third theme 'Barriers to attendance: can't go, won't go, don't know and poor system flow' outlined how practicalities of attending, lack of knowledge of the existence and benefits, and limited resources and support for education within the diabetes care pathway impacts on attendance. The final theme 'Supporting attendance: healthcare professionals and the diabetes care pathway' describes facilitators to participants' attendance and the strategies educators perceived to be important in increasing attendance. CONCLUSIONS: Healthcare professionals have an important role in improving attendance at structured diabetes education programmes. Improving attendance may require promotion by healthcare professionals and for education to be better embedded and supported within the diabetes care pathway.


Assuntos
Diabetes Mellitus Tipo 2/terapia , Conhecimentos, Atitudes e Prática em Saúde , Aceitação pelo Paciente de Cuidados de Saúde/estatística & dados numéricos , Educação de Pacientes como Assunto/métodos , Autocuidado/métodos , Idoso , Feminino , Humanos , Irlanda/epidemiologia , Masculino , Pessoa de Meia-Idade , Avaliação de Processos e Resultados em Cuidados de Saúde , Pesquisa Qualitativa
4.
Opt Express ; 26(20): 25805-25813, 2018 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-30469676

RESUMO

Terahertz (THz) imaging has been demonstrated in numerous applications from medical to non-destructive evaluation (NDE), but current systems require expensive components, provide slow frame-rates and low resolutions. THz holography offers a potentially low-cost, high-performance alternative. Here we demonstrate the first full video-rate THz digital holography system at 2.52 THz (118.8 µm) using low-cost optical components. 2D digital reconstructions of samples are performed at frame-rates of 50 Hz - an order of magnitude higher than previous systems, whilst imaging of samples concealed in common packaging types demonstrates suitability for NDE applications. A lateral resolution of 250 µm was determined using a 1951 USAF target.

5.
Obes Surg ; 28(2): 293-302, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-28840525

RESUMO

BACKGROUND: There are very few randomised, blinded trials comparing laparoscopic sleeve gastrectomy (LSG) versus laparoscopic Roux-en-Y gastric bypass (LRYGB) in achieving remission of type 2 diabetes (T2D), particularly silastic ring (SR)-LRYGB. We compared the effectiveness of (LSG) versus SR-LRYGB among patients with T2D and morbid obesity. METHODS: Prospective, randomised, parallel, 2-arm, blinded clinical trial conducted in a single Auckland (New Zealand) centre. Eligible patients aged 20-55 years, T2D of at least 6 months duration and BMI 35-65 kg/m2 were randomised 1:1 to LSG (n = 58) or SR-LRYGB (n = 56) using random number codes disclosed after anaesthesia induction. Primary outcome was T2D remission defined by different HbA1c thresholds at 1 year. Secondary outcomes included weight loss, quality of life, anxiety and depressive symptoms, post-operative complications and mortality. RESULTS: Mean ± standard deviation (SD) pre-operative BMI was 42.5 ± 6.2 kg/m2, HbA1c 63 ± 16 mmol/mol (30% insulin-treated, 28% had diabetes duration over 10 years). Proportions achieving HbA1c ≤ 38 mmol/mol, < 42 mmol/mol, < 48 mmol/mol and < 53 mmol/mol without diabetes medication at 1 year in SR-LRYGB vs LSG were 38 vs 43% (p = 0.56), 52 vs 49% (p = 0.85), 75 vs 72% (p = 0.83) and 80 vs 77% (p = 0.82), respectively. Mean ± SD % total weight loss at 1 year was greater after SR-LRYGB than LSG: 32.2 ± 7.7 vs 27.1 ± 7.5%, respectively (p < 0.001). Gastrointestinal complications were more frequent after SR-LRYGB (including 3 ulcers, 1 anastomotic leak, 1 abdominal bleeding). Quality of life and depression symptoms improved significantly in both groups. CONCLUSION: Despite significantly greater weight loss after SR-LRYGB, there was similar T2D remission and psychosocial improvement after LSG and SR-LRYGB at 1 year. TRIAL REGISTRATION: Prospectively registered at Australia and New Zealand Clinical Trials Register (ACTRN 12611000751976) and retrospectively registered at Clinical Trials (NCT1486680).


Assuntos
Diabetes Mellitus Tipo 2/cirurgia , Gastrectomia/métodos , Derivação Gástrica/métodos , Obesidade Mórbida/cirurgia , Adulto , Fístula Anastomótica/epidemiologia , Fístula Anastomótica/etiologia , Diabetes Mellitus Tipo 2/epidemiologia , Método Duplo-Cego , Feminino , Gastrectomia/efeitos adversos , Derivação Gástrica/efeitos adversos , Humanos , Laparoscopia/efeitos adversos , Laparoscopia/métodos , Masculino , Pessoa de Meia-Idade , Nova Zelândia , Obesidade Mórbida/epidemiologia , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Qualidade de Vida , Resultado do Tratamento , Redução de Peso , Adulto Jovem
6.
Hernia ; 20(3): 399-404, 2016 06.
Artigo em Inglês | MEDLINE | ID: mdl-26874507

RESUMO

PURPOSE: Studies comparing laparoscopic (LIHR) vs. open inguinal hernia repair (OIHR) have shown similar recurrence rates but have disagreed on perioperative outcomes and costs. The aim of this study is to compare laparoscopic vs. open outcomes and costs. METHODS: The National Surgical Quality Improvement Program (NSQIP) was used to compare durations of surgery, anesthesia time, and length of stay (LOS). The University HealthSystem Consortium (UHC) was used to review the cost and complications between approaches. Patients were matched on demographics, year of procedure and surgical approach between datasets for statistical analysis. RESULTS: A sample of 5468 patients undergoing OIHR (N = 4,693) or LIHR (N = 775) was selected from UHC from 2008-2011. An identical number of patients from NSQIP were matched to those from UHC resulting in a total of 10,936 records. LIHR patients had shorter duration of wait from admission to operation (p < 0.05). Conversely, LIHR patients had longer operating time (p < 0.05), duration of anesthesia (p < 0.05), and time in the operating room (p < 0.05).Overall complication rate was higher in open (3.1 vs. 1.8 %, p < 0.05). Cost favored open over LIHR ($4360 vs $5105). The cost discrepancy mainly stemmed from LIHR supplies ($1448 vs. $340; p < 0.05) and OR services ($1380 vs. $1080; p < 0.05). CONCLUSION: This study demonstrates the LOS and perioperative outcomes were superior in the LIHR group; however, the overall cost was higher due to the supplies. Advancement in technology, surgeons' skill level and preference of supplies are all factors in decreasing the overall cost of LIHR.


Assuntos
Hérnia Inguinal/cirurgia , Herniorrafia/economia , Herniorrafia/métodos , Laparoscopia/economia , Laparoscopia/métodos , Idoso , Anestesia , Redução de Custos , Análise Custo-Benefício , Feminino , Humanos , Tempo de Internação , Masculino , Pessoa de Meia-Idade , Duração da Cirurgia , Recidiva , Fatores de Tempo , Resultado do Tratamento
9.
Minerva Urol Nefrol ; 66(1): 25-35, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24721938

RESUMO

This article reviews the development of laparo-endoscopic single-site surgery (LESS), minilaparoscopy (MiniLap), and natural orifice transluminal endoscopic surgery (NOTES) with a particular focus on the applications in urologic surgery. We also provide the reader with a focused summary of the relevant nomenclature, history, and comparative outcomes. A literature search was conducted on LESS, MiniLap, needlescopy, microlaparoscopy and NOTES procedures in urology which is current through January 2013. The most relevant contemporary publications were selected and the pertinent findings were reviewed. Over the last few decades, we note that many innovative surgeons have performed a myriad of urologic procedures using LESS, MiniLap and NOTES techniques. These techniques are beginning to garner interest throughout the world; however, the enthusiasm for said techniques, while high, has not yet been met with high level scientific data clearly demonstrating the advantages of these approaches over conventional laparoscopy. In this review, we outline the history and clinical implementation of these techniques while also reviewing the comparative data where it exists. We attempt to provide the reader with a balanced overview of these techniques, their origins and lay the groundwork for future research and development.


Assuntos
Laparoscopia/métodos , Cirurgia Endoscópica por Orifício Natural , Doenças Urológicas/cirurgia , Procedimentos Cirúrgicos Urológicos/métodos , Humanos
11.
Rev. chil. cir ; 62(6): 576-581, dic. 2010. ilus
Artigo em Espanhol | LILACS | ID: lil-577303

RESUMO

Background: The transumbilical route can be used to perform sleeve gastrectomies. Aim: To report the experience with transumbilical sleeve gastrectomy. Material and Methods: A prospective protocol of transumbilical sleeve gastrectomy was applied among patients with a body mass index of 36 kg/m² or less, and a distance between the xiphoid process and the umbilicus of less than 22 cm. Results: Six female patients, with a body mass index between 32.5 and 35.3 kg/m² have been operated. The operative time ranged from 90 to 170 min. An additional 5 mm trochar was required in the first two patients. The postoperative barium swallow showed a good distal passage and the absence of stenosis, residual fundus or nitrations in all patients. No patient had complications. Conclusions: Transumbilical sleeve gastrectomy is feasible among patients with a body mass index of less than 36 kg/m².


Introducción: La cirugía laparoscópica ha estado orientada los últimos años a buscar otras alternativas mínimamente invasivas de acceso abdominal. La transumbilical es una vía que ha comenzado a ser aplicada clínicamente, con o sin dispositivos de acceso único. Hemos comenzado a realizar la gastrectomía vertical laparoscópica (GVL) por vía transumbilical, en ciertos casos seleccionados. Objetivo: Evaluar la factibilidad de realizar la GVL por vía transumbilical, utilizando un dispositivo de acceso único y el resto del instrumental laparoscópico tradicional. Método: Protocolo prospectivo aplicado a pacientes que cumplan con criterios de inclusión como: ser candidato a GVL, tener IMC igual o menor a 36 kg/m², distancia entre apéndice xifoides y ombligo menor a 22 cm. El peso promedio de las pacientes operadas fue de 90,5 kg, (82,5-98), IMC promedio de 33,8 kg/m² (32,5-35,3). Se describe la técnica de inserción del dispositivo, de la gastrectomía y del manejo postoperatorio. Resultados: Se logró realizar GVL en las 6 pacientes en las que se intentó. El tiempo operatorio promedio fue de 127 min (90 a 170 min), en las dos primeras pacientes se requirió el uso de un trocar adicional de 5 mm. En todas las pacientes, la radiografía baritada de esófago, estómago y duodeno mostró buen paso a distal y ausencia de estenosis, fondo residual o filtraciones. No hubo morbilidad en este grupo. Conclusiones: La GVL es factible de realizar en pacientes portadores de obesidad menor a 36 kg/ m²de superficie corporal, usando un dispositivo de acceso único e instrumental laparoscópico tradicional.


Assuntos
Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Gastrectomia/métodos , Laparoscopia/métodos , Obesidade/cirurgia , Índice de Massa Corporal , Estudos de Viabilidade , Umbigo/cirurgia , Estudos Prospectivos
12.
Theor Appl Genet ; 121(8): 1405-17, 2010 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-20617301

RESUMO

Water-soluble carbohydrates (WSC) are an important factor determining the nutritional value of grass forage and development of genetic markers for selection of WSC traits in perennial ryegrass would benefit future breeding programmes. Quantitative trait loci (QTLs) for WSC have been published for an F(2) ryegrass mapping family. Markers showing significant associations with these QTLs were used to design narrow-based populations with homozygosity for target QTLs. Founders were selected from within the mapping family. The divergent populations produced were analysed for WSC content in the glasshouse and the field. There was evidence of complex interactions between WSC content and other factors and traits, including the scale of assessment, time/degree of sward establishment and other forage quality parameters. Differences between the divergent pairs of the various populations were small. However, differences observed between the founder selection groups were maintained and the roles of the QTL regions in regulating forage WSC content were confirmed. In general, the individual divergent populations exploited only a limited extent of the large phenotypic variation available within the mapping family. However, this study sets the scene for exploring the opportunities for marker-assisted breeding strategies for complex traits in obligate out-breeding species, and the challenges of doing this are discussed.


Assuntos
Carboidratos/genética , Lolium/genética , Locos de Características Quantitativas/genética , Seleção Genética , Água/química , Alelos , Análise de Variância , Carboidratos/análise , Mapeamento Cromossômico , Cruzamentos Genéticos , Meio Ambiente , Marcadores Genéticos , Variação Genética , Genética Populacional , Alemanha , Lolium/crescimento & desenvolvimento , Países Baixos , Solubilidade , Reino Unido
13.
J Laryngol Otol ; 124(8): 823-7, 2010 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-20519037

RESUMO

INTRODUCTION: Recent advances in electronic nose technology, and successful clinical applications, are facilitating the development of new methods for rapid, bedside diagnosis of disease. There is a real clinical need for such new diagnostic tools in otolaryngology. MATERIALS AND METHODS: We present a critical review of recent advances in electronic nose technology and current applications in otolaryngology. RESULTS: The literature reports evidence of accurate diagnosis of common otolaryngological conditions such as sinusitis (acute and chronic), chronic suppurative otitis media, otitis externa and nasal vestibulitis. A significant recent development is the successful identification of biofilm-producing versus non-biofilm-producing pseudomonas and staphylococcus species. CONCLUSION: Electronic nose technology holds significant potential for enabling rapid, non-invasive, bedside diagnosis of otolaryngological disease.


Assuntos
Biofilmes , Diagnóstico Precoce , Eletrônica Médica/instrumentação , Otolaringologia/tendências , Sistemas Automatizados de Assistência Junto ao Leito/tendências , Técnicas Biossensoriais/instrumentação , Eletrônica Médica/tendências , Humanos , Odorantes/análise , Percepção Olfatória , Otite Média Supurativa/diagnóstico , Otite Média Supurativa/microbiologia , Sinusite/diagnóstico , Sinusite/microbiologia , Olfato
14.
Med Oncol ; 27(3): 760-2, 2010 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-19657750

RESUMO

Atypical chronic myeloid leukaemia (aCML) belongs to the myeloproliferative/myelodysplastic category of haematological disease. Main characteristics are marked dysgranulopoiesis, bone marrow dysfunction and the failure to demonstrate the presence of the Philadelphia chromosome or BCR/ABL fusion gene normally associated with CML t(9;22)(q34;q11). It carries a poor prognosis with limited therapeutic options available. Most cases of aCML have one or more karyotypic abnormalities. We highlight a clinical presentation of aCML associated with an acquired reciprocal whole-arm translocation (WAT), t(X;12)(p10;p10), which to our knowledge has not yet been described. We also discuss how such a translocation might lead to tumorigenesis.


Assuntos
Cromossomos Humanos Par 12/ultraestrutura , Cromossomos Humanos X/ultraestrutura , Leucemia Mieloide Crônica Atípica BCR-ABL Negativa/genética , Translocação Genética , Idoso , Transformação Celular Neoplásica , Cromossomos Humanos Par 12/genética , Cromossomos Humanos X/genética , Células Clonais/ultraestrutura , Terapia Combinada , Irradiação Craniana , Feminino , Humanos , Hipofisectomia , Achados Incidentais , Cariotipagem , Leucemia Mieloide Crônica Atípica BCR-ABL Negativa/patologia , Segunda Neoplasia Primária/genética , Células-Tronco Neoplásicas/ultraestrutura , Octreotida/uso terapêutico , Neoplasias Hipofisárias/radioterapia , Neoplasias Hipofisárias/cirurgia , Radioterapia Adjuvante
15.
J Clin Pathol ; 62(8): 757-9, 2009 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-19638550

RESUMO

This report describes a case of aleukaemic myeloid sarcoma of the small intestine in a 50-year-old woman presenting with small bowel obstruction. Fluorescence in situ hybridisation analysis of interphase nuclei revealed a split CBFbeta signal, consistent with an underlying inversion of chromosome 16, inv(16)(p13q22). The resultant type A CBFbeta/MYH11 transcript was detected by reverse transcriptase PCR. Immunohistochemistry with the AH107 antibody to the CBFbeta-SMMHC chimeric protein showed strong nuclear staining of the tumour cell nuclei. This represents the first use of this antibody in the diagnosis of this subtype of myeloid sarcoma in the small intestine.


Assuntos
Inversão Cromossômica , Cromossomos Humanos Par 16/genética , Neoplasias do Íleo/genética , Proteínas de Fusão Oncogênica/metabolismo , Sarcoma Mieloide/genética , Feminino , Humanos , Neoplasias do Íleo/metabolismo , Neoplasias do Íleo/patologia , Hibridização in Situ Fluorescente/métodos , Pessoa de Meia-Idade , Proteínas de Neoplasias/metabolismo , Reação em Cadeia da Polimerase Via Transcriptase Reversa/métodos , Sarcoma Mieloide/metabolismo , Sarcoma Mieloide/patologia
16.
J Laryngol Otol ; 123(1): 85-90, 2009 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-18405405

RESUMO

OBJECTIVES: A variety of topical preparations are used for symptomatic relief following nasal surgery. The aim of this study was to compare the effect of two commonly used products on patient symptom scores following nasal surgery. DESIGN: Randomised, single-blinded, comparative clinical trial. SETTING: A single, secondary otorhinolaryngology centre. PARTICIPANTS: One hundred and twenty patients undergoing septoplasty or functional endoscopic sinus surgery as an isolated procedure between November 2003 and January 2006. Patients undergoing additional nasal procedures were excluded, as were those requiring additional post-operative medications other than standardised analgesia. METHODS: Following nasal surgery, patients were randomised to receive either xylometazoline hydrochloride 0.1 per cent nasal spray or a sterile physiological saline aerosol. MAIN OUTCOME MEASURES: Visual analogue scale symptom scores for nasal obstruction, rhinorrhoea, pain, loss of sense of smell and bleeding were assessed at day 10 post-operatively. RESULTS: Post-operative symptom scores were compared between treatment groups. Overall, median pain scores were significantly higher in the xylometazoline group (p = 0.03, chi-square test). When analysed by procedure, median pain scores were significantly higher in septoplasty patients using xylometazoline (p = 0.019, chi-square test). CONCLUSION: There is no evidence to support the use of xylometazoline hydrochloride 0.1 per cent nasal spray over aerosolised physiological saline alone, following nasal surgery. Furthermore, there may be more pain associated with the post-operative use of xylometazoline.


Assuntos
Imidazóis/administração & dosagem , Descongestionantes Nasais/administração & dosagem , Doenças Nasais/cirurgia , Complicações Pós-Operatórias/prevenção & controle , Cloreto de Sódio/administração & dosagem , Administração Intranasal , Adolescente , Adulto , Idoso , Distribuição de Qui-Quadrado , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Procedimentos Cirúrgicos Otorrinolaringológicos/métodos , Medição da Dor , Seios Paranasais/cirurgia , Cuidados Pós-Operatórios/métodos , Método Simples-Cego , Resultado do Tratamento , Adulto Jovem
17.
Hematology ; 13(3): 133-6, 2008 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-18702869

RESUMO

Advanced age is an indicator of poor prognosis in chronic myeloid leukaemia (CML). Since obtaining its UK licence in 2001, the tyrosine kinase inhibitor imatinib mesylate has effected a paradigm shift in the treatment of CML. We compared survival and molecular response rates in elderly patients to younger patients presenting with CML since the introduction of imatinib. Twenty-five patients aged >60 years were identified. No significant survival difference was found when this group was compared with younger patients. In the elderly group, 53% of those with molecular data (36% of all elderly patients) had a major molecular response as assessed by real time quantitative PCR (RT-PCR). The advent of imatinib therapy appears to have ameliorated much of the negative impact of advancing age on survival in patients with CML.


Assuntos
Antineoplásicos/uso terapêutico , Leucemia Mielogênica Crônica BCR-ABL Positiva/tratamento farmacológico , Piperazinas/uso terapêutico , Pirimidinas/uso terapêutico , Adulto , Idoso , Benzamidas , Ensaios Clínicos Fase I como Assunto , Humanos , Mesilato de Imatinib , Leucemia Mielogênica Crônica BCR-ABL Positiva/mortalidade , Irlanda do Norte , Prognóstico , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Análise de Sobrevida
18.
J Clin Pathol ; 61(8): 903-8, 2008 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-18474541

RESUMO

AIMS: To screen for genomic imbalances in patients with acute leukaemia using conventional (G-banding) and molecular (comparative genomic hybridisation (CGH) and fluorescence in situ hybridisation (FISH)) methods to determine whether an integrative screening approach increases abnormality detection rate. METHODS: G-banded analysis was performed on unstimulated bone marrow (BM) or peripheral blood (PB) cells after short-term (24-hour) culture. CGH was performed on reference (control) and neoplastic (test patient) genomic DNA extracted from BM or PB samples. Interphase FISH (i-FISH) was selectively carried out at disease diagnosis on patients with acute lymphoblastic leukaemia and acute myeloid leukaemia using conventional methods. RESULTS: Genomic rearrangements were detected in 4, 7 and 6 patients using G-banding, CGH and i-FISH respectively. Discordance in results between G-banding, CGH and/or i-FISH was found in 7 of the 12 patients screened. G-banding and CGH, when used individually, detected a genomic imbalance/rearrangement in 33.3% and 58.3%, respectively, of the patients screened. However, when both screening methods were integrated, the abnormality detection rate increased to 66.7%. This detection rate increased further to 75.0% with the use of i-FISH screening. CONCLUSIONS: The advantages and disadvantages of using G-banding, CGH and i-FISH as either stand-alone or integrated screening methods for the detection and characterisation of genomic imbalances in acute leukaemia are clearly demonstrated. Abnormality detection rate significantly increased when an integrated screening approach was employed which could potentially provide valuable information for risk stratification in patients with acute leukaemia.


Assuntos
Aberrações Cromossômicas , Leucemia/genética , Doença Aguda , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Bandeamento Cromossômico/métodos , DNA de Neoplasias/genética , Feminino , Rearranjo Gênico , Humanos , Hibridização in Situ Fluorescente/métodos , Interfase , Cariotipagem , Masculino , Pessoa de Meia-Idade , Hibridização de Ácido Nucleico/métodos
19.
New Phytol ; 179(3): 765-775, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18507776

RESUMO

* The role of fructan in growth and drought-stress responses of perennial ryegrass (Lolium perenne) was investigated in an F(2) mapping family that segregates for carbohydrate metabolism. * A quantitative trait locus approach was used to compare the genetic control of traits. * Growth and drought-stress traits were extremely variable within the family. Most traits had high broad-sense heritability. Quantitative trait loci (QTL) were identified for most traits; the maximum number of QTL per trait was four. Between 11% and 75% of total phenotypic variation was explained. Few growth-trait QTL coincided with previously identified fructan QTL. A cluster of drought-trait QTL was close to two previously identified regions of the genome with tiller base fructan QTL in repulsion. * The high sugar parent contributed few alleles that increased 'reserve-driven' growth or performance during drought-stress. Correlation of growth and drought-stress traits with fructan content was low and increasing fructan content per se would not appear to improve drought resistance. Complex patterns of carbohydrate partitioning and metabolism within the cell may explain contradictory relationships between carbohydrate content and growth/stress-resistance traits.


Assuntos
Frutanos/metabolismo , Lolium/crescimento & desenvolvimento , Locos de Características Quantitativas , Mapeamento Cromossômico , Cromossomos de Plantas , Ligação Genética , Genoma de Planta , Lolium/genética , Lolium/metabolismo , Fenótipo , Água/metabolismo
20.
New Phytol ; 178(3): 559-71, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18346108

RESUMO

Mutational load and resource allocation factors and their effects on limiting seed set were investigated in ryegrass by comparative mapping genomics and quantitative trait loci (QTL) analysis in two perennial ryegrass (Lolium perenne) mapping families sharing common genetic markers. Quantitative trait loci for seed-set were identified on chromosome (LG) 7 in both families and on LG4 of the F2/WSC family. On LG7, seed-set and heading date QTLs colocalized in both families and cannot be unequivocally resolved. Comparative genomics suggests that the LG7 region is syntenous to a region of rice LG6 which contains both fertility (S5(n)) and heading date (Hd1, Hd3a) candidate genes. The LG4 region is syntenous to a region of rice LG3 which contains a fertility (S33) candidate gene. QTL maxima for seed-set and heading date on LG4 in the F2/WSC family are separated by c. 8 cm, indicating distinct genetic control. Low seed set is under the control of recessive genes at both LG4 and LG7 locations. The identification of QTLs associated with seed set, a major component of seed yield in perennial ryegrass, indicates that mutational load associated with these genomic regions can be mitigated through marker-assisted selection.


Assuntos
Cruzamentos Genéticos , Regulação da Expressão Gênica de Plantas/fisiologia , Lolium/genética , Locos de Características Quantitativas/genética , Mapeamento Cromossômico , Cromossomos de Plantas , Genes de Plantas , Marcadores Genéticos , Variação Genética , Lolium/fisiologia , Mutação , Folhas de Planta/anatomia & histologia , Folhas de Planta/genética , Reprodução/genética
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