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1.
Artigo em Inglês | MEDLINE | ID: mdl-38980775

RESUMO

Marker-based motion capture (mocap) is a conventional method used in biomechanics research to precisely analyze human movement. However, the time-consuming marker placement process and extensive post-processing limit its wider adoption. Therefore, markerless mocap systems that use deep learning to estimate 2D keypoint from images have emerged as a promising alternative, but annotation errors in training datasets used by deep learning models can affect estimation accuracy. To improve the precision of 2D keypoint annotation, we present a method that uses anatomical landmarks based on marker-based mocap. Specifically, we use multiple RGB cameras synchronized and calibrated with a marker-based mocap system to create a high-quality dataset (RRIS40) of images annotated with surface anatomical landmarks. A deep neural network is then trained to estimate these 2D anatomical landmarks and a ray-distance-based triangulation is used to calculate the 3D marker positions. We conducted extensive evaluations on our RRIS40 test set, which consists of 10 subjects performing various movements. Compared against a marker-based system, our method achieves a mean Euclidean error of 13.23 mm in 3D marker position, which is comparable to the precision of marker placement itself. By learning directly to predict anatomical keypoints from images, our method outperforms OpenCap's augmentation of 3D anatomical landmarks from triangulated wild keypoints. This highlights the potential of facilitating wider integration of markerless mocap into biomechanics research. The RRIS40 test set is made publicly available for research purposes at koonyook.github.io/rris40.

2.
Artigo em Inglês | MEDLINE | ID: mdl-38082799

RESUMO

Object tracking during rehabilitation could help a therapist to evaluate a patient's movement and progress. Hence, we present an image-based method for real-time tracking of handheld objects due to its ease of use and availability of color or depth cameras. We use an efficient projective point correspondence method and generalize the use of precomputed spare viewpoint information to allow real-time tracking of a rigid object. The method runs at more than 30 fps on a CPU while achieving submillimeter accuracy on synthetic datasets and robust tracking on a semi-synthetic dataset.Clinical relevance Real-time, accurate, and robust tracking of an object using an image-based method is a promising tool for rehabilitation applications as it is practical for clinical settings.


Assuntos
Movimento , Humanos , Cor
3.
Artigo em Inglês | MEDLINE | ID: mdl-38083090

RESUMO

To complement rehabilitation assessments that involve hand-object interaction with additional information on the grasping parameters, we sensorized an object with a pressure sensor array module that can generate a pressure distribution map. The module can be customized for cylindrical and cuboid objects with up to 1024 sensing elements and it supports the efficient transfer of data wirelessly at more than 30 Hz. Although the module uses inexpensive materials, it is sensitive to changes in pressure distribution. It can also depict the shape of various objects with reasonable details as shown in the small errors for object pose estimation and high accuracy scores for hand grasp classification. The module's modular design and wireless functionality help to simplify integration with existing objects to create a smart sensing surface.Clinical relevance The resulting pressure distribution map allows the therapist to analyze grasping parameters that cannot be determined from visual observations alone.


Assuntos
Força da Mão , Mãos
4.
Adv Med Educ Pract ; 14: 157-166, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36880093

RESUMO

Background: Feedback collated at University College London Medical School (UCLMS) during the COVID pandemic identified how many students felt unprepared for their summative Objective Structured Clinical Examinations (OSCEs) despite attending mock face-to-face OSCEs. The aim of this study was to explore the role of virtual mock OSCES for improving student's sense of preparedness and confidence levels for their summative OSCEs. Methods: All Year 5 students (n=354) were eligible to participate in the virtual mock OSCEs and were sent a pre- and post-survey for completion. Hosted on Zoom in June 2021, each circuit comprised six stations, assessing history taking and communication skills only, in Care of the Older Person, Dermatology, Gynaecology, Paediatrics, Psychiatry and Urology. Results: Two hundred and sixty-six Year 5 students (n=354) participated in the virtual mock OSCEs, with 84 (32%) students completing both surveys. While a statistically significant increase in preparedness was demonstrated, there was no difference in overall confidence levels. In contrast, between specialties, a statistically significant increase in confidence levels was seen in all specialties barring Psychiatry. Despite half of the participants highlighting how the format did not sufficiently represent the summative OSCEs, all expressed interest in having virtual mock OSCEs incorporated into the undergraduate programme. Conclusion: The findings of this study suggest that virtual mock OSCEs have a role in preparing medical students for their summative exams. While this was not reflected in their overall confidence levels, this may be due to a lack of clinical exposure and higher anxiety levels among this cohort of students. Although virtual OSCEs cannot replicate the "in-person" experience, considering the logistical advantages, further research is required on how these sessions can be developed, to support the traditional format of face-to-face mock OSCEs within the undergraduate programme.

5.
Lung Cancer ; 173: 71-74, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-36156323

RESUMO

BRAF inhibitors have been shown in clinical trials to improve patient outcomes in non-small cell lung cancer (NSCLC) patients harbouring selected BRAF driver mutations with a limited side effect profile, and therefore show potential as therapeutics in clinical practice. To utilise BRAF inhibitors effectively, understanding the prevalence of BRAF mutations within the local patient population is crucial, especially since NSCLC driver mutation rates have been observed to vary in different populations around the world. We interrogated a clinical archive of next generation sequencing (NGS) data representative of 7 years of routine UK practice in the National Health Service (NHS) to investigate the frequency of BRAF mutations, the breakdown of mutation classes and co-occurrence of other oncogenic driver mutations. Tissue biopsies from NSCLC cases referred to the Sarah Cannon Molecular Diagnostics Laboratory between January 2015 and February 2022 from multiple centres across UK were included in this study. Somatic mutation hotspots in relevant cancer-associated genes were analysed using amplicon/ion-torrent based NGS assays, and all NSCLC samples which harboured recognised BRAF driver mutations were identified through a combination of automated and manual data retrieval. Data regarding any other detected mutations and basic demographic information were also collected. Over the 7-year period, 5384 NSCLC samples were sequenced, with BRAF mutation identified in 185 (3.44%) of cases. These 185 cases represented a total of 73 Class I BRAF mutations (39.5%), 61 Class II mutations (33.0%) and 51 Class III mutations (27.6%). Of the 73 identified Class I mutations, 69 (69/185, 37.3%) were V600E and four (4/185, 2.16%) were non-V600E mutations. Five V600E cases had co-mutations (5/185, 2.7%). Various other known driver mutations were also identified in these 185 tumour samples, with KRAS (18/185, 9.73%) and PIK3CA (7/185, 3.78%) occurring at the highest frequency. This is the first large cohort-level study in the UK to profile the breakdown of BRAF-positive NSCLC biopsy samples using NGS in routine clinical practice. This study defines the proportion of NSCLC patients that may be expected to benefit from BRAF inhibitors and highlights the utility of using NGS as a diagnostic tool to improve targeted therapy stratification for NSCLC patients.


Assuntos
Carcinoma Pulmonar de Células não Pequenas , Neoplasias Pulmonares , Humanos , Carcinoma Pulmonar de Células não Pequenas/tratamento farmacológico , Carcinoma Pulmonar de Células não Pequenas/epidemiologia , Carcinoma Pulmonar de Células não Pequenas/genética , Proteínas Proto-Oncogênicas B-raf/genética , Neoplasias Pulmonares/tratamento farmacológico , Neoplasias Pulmonares/epidemiologia , Neoplasias Pulmonares/genética , Prevalência , Proteínas Proto-Oncogênicas p21(ras)/genética , Medicina Estatal , Mutação , Classe I de Fosfatidilinositol 3-Quinases/genética , Inibidores de Proteínas Quinases/uso terapêutico , Reino Unido/epidemiologia
6.
BMC Med Inform Decis Mak ; 22(1): 175, 2022 07 03.
Artigo em Inglês | MEDLINE | ID: mdl-35780122

RESUMO

BACKGROUND: Insightful feedback generation for daily home-based stroke rehabilitation is currently unavailable due to the inefficiency of exercise inspection done by therapists. We aim to produce a compact anomaly representation that allows a therapist to pay attention to only a few specific sections in a long exercise session record and boost their efficiency in feedback generation. METHODS: This study proposes a data-driven technique to model a repetitive exercise using unsupervised phase learning on an artificial neural network and statistical learning on principal component analysis (PCA). After a model is built on a set of normal healthy movements, the model can be used to extract a sequence of anomaly scores from a movement of the same prescription. RESULTS: The method not only works on a standard marker-based motion capture system but also performs well on a more compact and affordable motion capture system based-on Kinect V2 and wrist-worn inertial measurement units that can be used at home. An evaluation of four different exercises shows its potential in separating anomalous movements from normal ones with an average area under the curve (AUC) of 0.9872 even on the compact motion capture system. CONCLUSIONS: The proposed processing technique has the potential to help clinicians in providing high-quality feedback for telerehabilitation in a more scalable way.


Assuntos
Terapia por Exercício , Reabilitação do Acidente Vascular Cerebral , Exercício Físico , Terapia por Exercício/métodos , Humanos , Movimento , Extremidade Superior
7.
ACG Case Rep J ; 9(7): e00824, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35811577

RESUMO

Enteropathy-associated T-cell lymphoma (EATL) is a rare but serious complication of celiac disease. Diagnosis is challenging. Patients can present with weight loss, abdominal pain, and diarrhea or acutely with bowel perforation or obstruction. Patients often present with advanced disease. Malnutrition further limits treatment options. Early diagnosis is important to start aggressive treatment strategies. However, even with prompt diagnosis, prognosis remains poor with a high mortality rate. We report the first documented case of sole tonsillar involvement, a rare extraintestinal and extranodal site of disease, leading to EATL diagnosis. We also highlight some of the challenges in diagnosing EATL.

8.
Mol Psychiatry ; 27(2): 865-872, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34650202

RESUMO

The triple-network model of psychopathology is a framework to explain the functional and structural neuroimaging phenotypes of psychiatric and neurological disorders. It describes the interactions within and between three distributed networks: the salience, default-mode, and central executive networks. These have been associated with brain disorder traits in patients. Homologous networks have been proposed in animal models, but their integration into a triple-network organization has not yet been determined. Using resting-state datasets, we demonstrate conserved spatio-temporal properties between triple-network elements in human, macaque, and mouse. The model predictions were also shown to apply in a mouse model for depression. To validate spatial homologies, we developed a data-driven approach to convert mouse brain maps into human standard coordinates. Finally, using high-resolution viral tracers in the mouse, we refined an anatomical model for these networks and validated this using optogenetics in mice and tractography in humans. Unexpectedly, we find serotonin involvement within the salience rather than the default-mode network. Our results support the existence of a triple-network system in the mouse that shares properties with that of humans along several dimensions, including a disease condition. Finally, we demonstrate a method to humanize mouse brain networks that opens doors to fully data-driven trans-species comparisons.


Assuntos
Imageamento por Ressonância Magnética , Rede Nervosa , Animais , Encéfalo , Mapeamento Encefálico/métodos , Humanos , Imageamento por Ressonância Magnética/métodos , Camundongos , Vias Neurais
9.
Br J Neurosurg ; 36(1): 52-57, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33829953

RESUMO

BACKGROUND: Medical students' perception of neuroanatomy as a challenging topic has implications for referrals and interaction with specialists in the clinical neurosciences. Given plans to introduce a standardised Medical Licensing Assessment by 2023, it is important to understand the current framework of neuroanatomy education. This study aims to describe how neuroanatomy is taught and assessed in the UK and Ireland. METHODS: A structured questionnaire capturing data about the timing, methods, materials, assessment and content of the 2019/2020 neuroanatomy curriculum in the UK and Ireland medical schools. RESULTS: We received 24/34 responses. Lectures (96%) were the most widely used teaching method, followed by prosection (80%), e-learning (75%), tutorials/seminars (67%), problem-based learning (50%), case-based learning (38%), and dissection (30%). The mean amount of core neuroanatomy teaching was 29.3 hours. The most common formats of assessing neuroanatomical knowledge were multiple-choice exams, spot tests, and objective structured clinical exams. Only 37.5% schools required demonstration of core clinical competency relating to neuroanatomy. CONCLUSIONS: Our survey demonstrates variability in how undergraduate neuroanatomy is taught and assessed across the UK and Ireland. There is a role for development and standardisation of national undergraduate neuroanatomy curricula in order to improve confidence and attainment.


Assuntos
Educação de Graduação em Medicina , Neuroanatomia , Currículo , Educação de Graduação em Medicina/métodos , Humanos , Irlanda , Neuroanatomia/educação , Inquéritos e Questionários , Ensino , Reino Unido
10.
Am J Trop Med Hyg ; 105(3): 777-782, 2021 07 12.
Artigo em Inglês | MEDLINE | ID: mdl-34255740

RESUMO

Foodborne outbreaks of hepatitis A virus (HAV) are most commonly associated with fresh and frozen produce and with various types of shellfish. Alcoholic beverage-borne outbreaks of hepatitis A are extremely rare. Here, we report an outbreak of hepatitis A associated with the consumption of a traditional wine at a funeral ceremony in the Sabah state of Malaysian Borneo. Confirmed cases were determined by serum anti-HAV immunoglobulin M and/or for fecal HAV by reverse transcription polymerase chain reaction (RT-PCR). The amplicons of RT-PCR were subjected to nucleotide sequencing followed by phylogenetic analysis. We conducted a 1:2 case-control study to identify the possible exposure that led to the outbreak. Sixteen patients met the case definition, they were 18 to 58 years old and 90% of them were males. The case-control study showed that the consumption of nipa palm wine during the ceremony was significantly associated (P = 0.0017) with hepatitis A infection (odds ratio, 5.44; 95% CI, 1.80-16.43). Untreated river water was used to dilute the traditional wine, which was assumed to be the source of the infection. Phylogenetically, these viruses belonged to genotype IA and formed an independent cluster with strains from Taiwan, Japan, and the Philippines. This strain might be an emerging HAV in Asian countries. Environmental assessments were performed and environmental samples were negative for HAV. The incidence of hepatitis A in Sabah was also determined and it was 0.795/100,000 population. Strict monitoring of traditional wine production should be implemented by the local authority to prevent future outbreaks.


Assuntos
Comportamento Ritualístico , Rituais Fúnebres , Hepatite A/epidemiologia , Rios/virologia , Vinho/virologia , Adolescente , Adulto , Arecaceae , Surtos de Doenças , Feminino , Hepatite A/etiologia , Humanos , Malásia/epidemiologia , Masculino , Pessoa de Meia-Idade , Proteínas Estruturais Virais/genética , Adulto Jovem
11.
Perspect Med Educ ; 10(2): 130-134, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33415681

RESUMO

Major racial disparities continue to exist in our healthcare education, from the underrepresentation of ethnic minorities when teaching about clinical signs to health management in primary and secondary care. A multi-centre group of students discuss what needs to change in medical education to cultivate physicians who are better prepared to care for patients of all backgrounds. We argue that the accurate portrayal of race in medical education is a vital step towards educating medical students to consider alternative explanations to biology when considering health inequities.


Assuntos
Percepção , Racismo/psicologia , Estudantes de Medicina/psicologia , Atitude do Pessoal de Saúde , Educação Médica/métodos , Educação Médica/normas , Humanos , Racismo/estatística & dados numéricos , Estudantes de Medicina/estatística & dados numéricos
12.
Ann Med Surg (Lond) ; 62: 84-87, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33505677

RESUMO

INTRODUCTION AND IMPORTANCE: The differential diagnosis of a paediatric abdominal mass can be extensive, as it potentially involves multiple organs including gastrointestinal, genitourinary, endocrine, and gynaecological systems. Hence, a systematic approach to history taking and physical examination is needed to clinch the diagnosis. Specifically, the approach for assessing, investigating, and managing a ballotable left hypochondrial mass in a child can be challenging. CASE PRESENTATION: We report a 10-year-old Dusun girl presenting with left hypochondrial pain and noted a left hypochondrial mass on examination. This report highlights the role of clinical imaging during the pre-operative and post-operative phases. CLINICAL DISCUSSION: Ultrasound and CT imaging was useful in determining that the tumor originated from the tail of the pancreas. The presence of a definite capsule with internal solid-cystic components helped narrowed the differential diagnosis to solid pseudopapillary neoplasm (SPN) of the pancreas. MR liver was useful to rule out liver metastasis in this child. INTERVENTION AND OUTCOME: The patient was scheduled for laparotomy and tumour excision at a regional paediatric centre. Successful excision of the tumor en-mass was performed and the child's subsequent recovery was uneventful. CONCLUSION: Clinical imaging plays a critical role in the diagnosis and management of paediatric solid organ tumours. Other than renal origin, suspicion of pancreatic tail origin should be considered by clinicians when encountering a ballotable left abdominal mass.

13.
Annu Int Conf IEEE Eng Med Biol Soc ; 2020: 5789-5793, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-33019290

RESUMO

Current clinical practice of measuring hand joint range of motion relies on a goniometer as it is inexpensive, portable, and easy to use, but it can only measure the static angle of a single joint at a time. To measure dynamic hand motion, a camera-based system that can perform markerless hand pose estimation is attractive, as the system is ubiquitous, low-cost, and non-contact. However, camera-based systems require line-of-sight, and tracking accuracy degrades when the joint is occluded from the camera view. Thus, we propose a multi-view setup using a readily available color camera from a single mobile phone, and plane mirrors to create multiple views of the hand. This setup eliminates the complexity of synchronizing multiple cameras and reduce the issue of occlusion. Experimental results show that the multi-view setup could help to reduce the error in measuring the flexion angle of finger joints. Dynamic hand pose estimation with object interaction is also demonstrated.


Assuntos
Articulações dos Dedos , Mãos , Movimento (Física) , Amplitude de Movimento Articular
14.
Future Healthc J ; 7(2): 131-136, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32550280

RESUMO

BACKGROUND: International medical graduates (IMGs) contribute significantly towards the NHS care provision. No standardised clinical orientation programme (COP) for IMGs new to the NHS exists. OBJECTIVE: Our objective was to describe recruitment and retention strategies for junior doctors (JDs) in general medicine and develop a framework to anticipate outcomes of these interventions using the realist evaluation methodology. METHODS: We performed quality improvement interventions of recruitment and COP for new entrant IMGs in our organisation employed between December 2017 and April 2019. RESULTS: Twenty-three IMGs were recruited, 96% successfully completed the COP with a mean contract duration of 13±5 months. From the academic year 2017/18 to 2018/19, mean JD post occupancy increased from 54±3 to 73±4 JDs (p<0.001) and JD locum spend fell by £1.9 million. CONCLUSION: Our structured COP provides a stable, trained and financially sustainable JD workforce. Application in broader NHS settings is recommended.

15.
Annu Int Conf IEEE Eng Med Biol Soc ; 2019: 2082-2086, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31946311

RESUMO

Semantic segmentation is an important step for hand and object tracking as subsequent tracking algorithms depend heavily on the accuracy of the segmented hand and object. However, current methods for hand and object segmentation are limited in the number of semantic labels, and lack of a large scale annotated dataset to train an end-to-end deep neural network for semantic segmentation. Thus, in this work, we present a framework for generating a publicly available synthetic dataset, that is targeted for upper limb rehabilitation involving hand-object interaction and uses it to train our proposed deep neural network. Experimental results show that even though the network is trained on synthetic depth images, it is able to achieve a mean intersection over union (mIoU) of 70.4% when tested on real depth images. Furthermore, the inference time of the proposed network takes around 6 ms on a GPU, thus making it suitable for real-time applications.


Assuntos
Mãos , Processamento de Imagem Assistida por Computador , Redes Neurais de Computação , Algoritmos , Fenômenos Biomecânicos , Humanos , Movimento , Semântica
16.
Annu Int Conf IEEE Eng Med Biol Soc ; 2019: 4615-4618, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31946892

RESUMO

Synchronous forelimb-hindlimb gait pattern is important to facilitate natural walking behavior of an injured rat with total transection. Since our ultimate research goal is to build a rehabilitation robotic system to simulate the natural walking pattern for spinalized rats, this research aims to address an immediate goal of automating the inference of the rat's hindlimb trajectory from its own forelimb movement. Our proposed method uses unsupervised learning to extract independent forelimb and hinblimb phases. From the phase information, a relationship between forelimb and hindlimb trajectory can then be calculated. Results show that the proposed method has the potential to be used in a rehabilitation robotic system.


Assuntos
Membro Anterior , Marcha , Robótica , Animais , Automação , Membro Posterior , Locomoção , Ratos , Extremidade Superior , Caminhada
17.
BJR Case Rep ; 4(3): 20170114, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31489214

RESUMO

Herpes simplex encephalitis is the most common sporadic viral encephalitis in the western world, HSV-1 (herpes simplex virus) being the mostly commonly implicated serotype. The disease is usually monophasic, although patients may relapse weeks, months or years after initial infection. This chronic granulomatous inflammatory process is almost exclusively described in children and rarely forms discrete enhancing parenchymal nodules. We present the clinical and radiological features of an unusual case of chronic nodular granulomatous herpes encephalitis with enhancing "mass-like" nodules in an adult. To the author's knowledge, this is the first reported case of macroscopic "mass-like" nodular granuloma formation in an adult.

18.
J Occup Environ Hyg ; 11(5): 326-37, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24219404

RESUMO

This article reviews the present indicators, trends, and recent solutions and strategies to tackle major global and country problems in safety and health at work. The article is based on the Yant Award Lecture of the American Industrial Hygiene Association (AIHA) at its 2013 Congress. We reviewed employment figures, mortality rates, occupational burden of disease and injuries, reported accidents, surveys on self-reported occupational illnesses and injuries, attributable fractions, national economic cost estimates of work-related injuries and ill health, and the most recent information on the problems from published papers, documents, and electronic data sources of international and regional organizations, in particular the International Labor Organization (ILO), World Health Organization (WHO), and European Union (EU), institutions, agencies, and public websites. We identified and analyzed successful solutions, programs, and strategies to reduce the work-related negative outcomes at various levels. Work-related illnesses that have a long latency period and are linked to ageing are clearly on the increase, while the number of occupational injuries has gone down in industrialized countries thanks to both better prevention and structural changes. We have estimated that globally there are 2.3 million deaths annually for reasons attributed to work. The biggest component is linked to work-related diseases, 2.0 million, and 0.3 million linked to occupational injuries. However, the division of these two factors varies depending on the level of development. In industrialized countries the share of deaths caused by occupational injuries and work-related communicable diseases is very low while non-communicable diseases are the overwhelming causes in those countries. Economic costs of work-related injury and illness vary between 1.8 and 6.0% of GDP in country estimates, the average being 4% according to the ILO. Singapore's economic costs were estimated to be equivalent to 3.2% of GDP based on a preliminary study. If economic losses would take into account involuntary early retirement then costs may be considerably higher, for example, in Finland up to 15% of GDP, while this estimate covers various disorders where work and working conditions may be just one factor of many or where work may aggravate the disease, injury, or disorders, such as traffic injuries, mental disorders, alcoholism, and genetically induced problems. Workplace health promotion, services, and safety and health management, however, may have a major preventive impact on those as well. Leadership and management at all levels, and engagement of workers are key issues in changing the workplace culture. Vision Zero is a useful concept and philosophy in gradually eliminating any harm at work. Legal and enforcement measures that themselves support companies and organizations need to be supplemented with economic justification and convincing arguments to reduce corner-cutting in risk management, and to avoid short- and long-term disabilities, premature retirement, and corporate closures due to mismanagement and poor and unsustainable work life. We consider that a new paradigm is needed where good work is not just considered a daily activity. We need to foster stable conditions and circumstances and sustainable work life where the objective is to maintain your health and work ability beyond the legal retirement age. We need safe and healthy work, for life.


Assuntos
Acidentes de Trabalho/prevenção & controle , Acidentes de Trabalho/estatística & dados numéricos , Doenças Profissionais/economia , Doenças Profissionais/prevenção & controle , Acidentes de Trabalho/tendências , Efeitos Psicossociais da Doença , Humanos , Mortalidade/tendências , Local de Trabalho
19.
BMC Genomics ; 6: 38, 2005 Mar 17.
Artigo em Inglês | MEDLINE | ID: mdl-15774015

RESUMO

BACKGROUND: Germline mutations or large-scale deletions in the coding region and splice sites of STK11/LKB1 do not account for all cases of Peutz-Jeghers syndrome (PJS). It is conceivable that, on the basis of data from other diseases, inherited variation in promoter elements of STK11/LKB1 may cause PJS. RESULTS: Phylogenetic foot printing and transcription factor binding site prediction of sequence 5' to the coding sequence of STK11/LKB1 was performed to identify non-coding sequences of DNA indicative of regulatory elements. A series of 33 PJS cases in whom no mutation in STK11/LKB1 could be identified were screened for sequence changes in the putative promoter defined by nucleotides -1090 to -1472. Two novel sequence changes were identified, but were found to be present in healthy individuals. CONCLUSION: These findings indicate that promoter sequence changes are unlikely to contribute to PJS.


Assuntos
Síndrome de Peutz-Jeghers/genética , Regiões Promotoras Genéticas , Proteínas Serina-Treonina Quinases/genética , Quinases Proteína-Quinases Ativadas por AMP , Adolescente , Sequência de Bases , Sítios de Ligação , Biologia Computacional/métodos , Sequência Conservada , DNA/genética , Análise Mutacional de DNA , Deleção de Genes , Mutação em Linhagem Germinativa , Humanos , Modelos Genéticos , Dados de Sequência Molecular , Mutação , Filogenia , Ligação Proteica , Análise de Sequência de DNA
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