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1.
Nat Genet ; 22(1): 27-36, 1999 May.
Artigo em Inglês | MEDLINE | ID: mdl-10319858

RESUMO

A whole-genome radiation hybrid (RH) panel was used to construct a high-resolution map of the rat genome based on microsatellite and gene markers. These include 3,019 new microsatellite markers described here for the first time and 1,714 microsatellite markers with known genetic locations, allowing comparison and integration of maps from different sources. A robust RH framework map containing 1,030 positions ordered with odds of at least 1,000:1 has been defined as a tool for mapping these markers, and for future RH mapping in the rat. More than 500 genes which have been mapped in mouse and/or human were localized with respect to the rat RH framework, allowing the construction of detailed rat-mouse and rat-human comparative maps and illustrating the power of the RH approach for comparative mapping.


Assuntos
Marcadores Genéticos/genética , Genoma , Ratos/genética , Animais , Mapeamento Cromossômico , Cromossomos/genética , Genes/genética , Humanos , Células Híbridas , Camundongos , Dados de Sequência Molecular
2.
Science ; 282(5389): 744-6, 1998 Oct 23.
Artigo em Inglês | MEDLINE | ID: mdl-9784132

RESUMO

A map of 30,181 human gene-based markers was assembled and integrated with the current genetic map by radiation hybrid mapping. The new gene map contains nearly twice as many genes as the previous release, includes most genes that encode proteins of known function, and is twofold to threefold more accurate than the previous version. A redesigned, more informative and functional World Wide Web site (www.ncbi.nlm.nih.gov/genemap) provides the mapping information and associated data and annotations. This resource constitutes an important infrastructure and tool for the study of complex genetic traits, the positional cloning of disease genes, the cross-referencing of mammalian genomes, and validated human transcribed sequences for large-scale studies of gene expression.


Assuntos
Cromossomos Humanos/genética , Genoma Humano , Mapeamento Físico do Cromossomo , Animais , Etiquetas de Sequências Expressas , Expressão Gênica , Marcadores Genéticos , Projeto Genoma Humano , Humanos , Internet , Ratos , Sitios de Sequências Rotuladas
3.
Postgrad Med J ; 85(999): 3-8, 2009 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-19240281

RESUMO

Warthin tumour is the second most common benign neoplasm of the parotid gland. It has a low rate of growth and exhibits malignant transformation in 0.3% of cases. Although its aggressiveness has not been a concern, surgical resection remains the most common treatment modality. This entails the risk of a general anaesthetic and those pertaining to the procedure itself, most notably permanent facial nerve damage. This has led some authors to use conservative management, albeit rarely. There are those who condemn such a policy despite the encouraging results reported thus far. To understand the rationale underpinning non-operative management, it is imperative that one has a comprehensive understanding of the pathogenesis, clinical presentation and diagnosis of Warthin tumour. The aim of this review therefore is to detail these elements and clarify the current controversies in managing this lesion.


Assuntos
Adenolinfoma/terapia , Neoplasias Parotídeas/terapia , Adenolinfoma/diagnóstico , Biópsia por Agulha Fina , Diagnóstico por Imagem , Humanos , Neoplasias Parotídeas/diagnóstico
4.
Bone Joint J ; 100-B(3): 271-284, 2018 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-29589505

RESUMO

Aims: The success of anterior cruciate ligament reconstruction (ACLR) depends on osseointegration at the graft-tunnel interface and intra-articular ligamentization. Our aim was to conduct a systematic review of clinical and preclinical studies that evaluated biological augmentation of graft healing in ACLR. Materials and Methods: In all, 1879 studies were identified across three databases. Following assessment against strict criteria, 112 studies were included (20 clinical studies; 92 animal studies). Results: Seven categories of biological interventions were identified: growth factors, biomaterials, stem cells, gene therapy, autologous tissue, biophysical/environmental, and pharmaceuticals. The methodological quality of animal studies was moderate in 97%, but only 10% used clinically relevant outcome measures. The most interventions in clinical trials target the graft-tunnel interface and are applied intraoperatively. Platelet-rich plasma is the most studied intervention, but the clinical outcomes are mixed, and the methodological quality of studies was suboptimal. Other biological therapies investigated in clinical trials include: remnant-augmented ACLR; bone substitutes; calcium phosphate-hybridized grafts; extracorporeal shockwave therapy; and adult autologus non-cultivated stem cells. Conclusion: There is extensive preclinical research supporting the use of biological therapies to augment ACLR. Further clinical studies that meet the minimum standards of reporting are required to determine whether emerging biological strategies will provide tangible benefits in patients undergoing ACLR. Cite this article: Bone Joint J 2018;100-B:271-84.


Assuntos
Reconstrução do Ligamento Cruzado Anterior/métodos , Cicatrização/fisiologia , Animais , Materiais Biocompatíveis/farmacologia , Substitutos Ósseos/farmacologia , Fosfatos de Cálcio/farmacologia , Tratamento por Ondas de Choque Extracorpóreas , Terapia Genética , Humanos , Peptídeos e Proteínas de Sinalização Intercelular/farmacologia , Plasma Rico em Plaquetas , Transplante de Células-Tronco , Transplante Autólogo , Cicatrização/efeitos dos fármacos
5.
Bone Joint J ; 96-B(11): 1525-9, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25371468

RESUMO

We report our experience with glenohumeral arthrodesis as a salvage procedure for epilepsy-related recurrent shoulder instability. A total of six patients with epilepsy underwent shoulder fusion for recurrent instability and were followed up for a mean of 39 months (12 to 79). The mean age at the time of surgery was 31 years (22 to 38). Arthrodesis was performed after a mean of four previous stabilisation attempts (0 to 11) in all but one patient in whom the procedure was used as a primary treatment. All patients achieved bony union, with a mean time to fusion of 2.8 months (2 to 7). There were no cases of re-dislocation. One revision was undertaken for loosening of the metalwork, and then healed satisfactorily. An increase was noted in the mean subjective shoulder value, which improved from 37 (5 to 50) pre-operatively to 42 (20 to 70) post-operatively although it decreased in two patients. The mean Oxford shoulder instability score improved from 13 pre-operatively (7 to 21) to 24 post-operatively (13 to 36). In our series, glenohumeral arthrodesis eliminated recurrent instability and improved functional outcome. Fusion surgery should therefore be considered in this patient population. However, since the majority of patients are young and active, they should be comprehensively counselled pre-operatively given the functional deficit that results from the procedure.


Assuntos
Artrodese/métodos , Epilepsia/cirurgia , Instabilidade Articular/cirurgia , Articulação do Ombro/cirurgia , Adulto , Feminino , Seguimentos , Humanos , Instabilidade Articular/diagnóstico por imagem , Instabilidade Articular/etiologia , Masculino , Radiografia , Estudos Retrospectivos , Articulação do Ombro/diagnóstico por imagem , Fatores de Tempo , Resultado do Tratamento , Adulto Jovem
6.
Int J Surg ; 8(1): 18-24, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-19900595

RESUMO

Acute gastric volvulus is a life-threatening condition, but its intermittent nature and vague symptoms may make diagnosis difficult. Imaging is usually only diagnostic if carried out when patients are symptomatic. The population affected ranges from paediatric age group to elderly with multiple co-morbidities. Laparoscopic repair is advisable once a diagnosis is reached. This review on gastric volvulus focuses on the diagnostic and management challenges encountered, together with strategies for dealing with them. Lessons have emerged which may assist in dealing with such a rare presentation in future.


Assuntos
Volvo Gástrico/diagnóstico , Volvo Gástrico/cirurgia , Doença Aguda , Diagnóstico Diferencial , Humanos , Laparoscopia , Fatores de Risco , Volvo Gástrico/etiologia , Volvo Gástrico/fisiopatologia
7.
Open Orthop J ; 3: 56-60, 2009 Jul 22.
Artigo em Inglês | MEDLINE | ID: mdl-19657462

RESUMO

BACKGROUND: Ankle fracture fixation is one of the most commonly performed orthopaedic procedures. Although the results are generally favourable, complications are not uncommon, particularly in the case of surgical site infections. These have considerable impact on both postoperative morbidity and healthcare costs. Paradoxically, there is a paucity of literature studying patients who sustain them and therefore little is known about ways such occurrences can be minimised. The purpose of this study was to determine the infection rate following ankle fracture fixation and elucidate variables in their causation. METHODS: We retrospectively reviewed 50 consecutive patients who underwent open reduction and internal fixation of an ankle fracture. The study group consisted of 26 females and 24 males with an average age of 43 (Range 16-82) years. RESULTS: Problems with superficial infections were noted in seven patients and deep infections in five. Of the latter, four patients underwent further surgery including two that had their metal work removed. With use of the Fisher's exact test we determined that only smoking and a bimalleolar fracture pattern were significant variables, having p-values of 0.02 and 0.04 respectively. CONCLUSION: We recommend that patients with ankle fractures who either have a history of smoking and/or bimalleolar injury be counselled about the potential risk of infection and its implications on their functional recovery. The ability to identify patients at risk of such problems highlights the need for caution during the perioperative period so that care strategies may be altered to facilitate recovery.

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