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1.
Sensors (Basel) ; 24(11)2024 May 23.
Article in English | MEDLINE | ID: mdl-38894119

ABSTRACT

Trunk compensatory movements frequently manifest during robotic-assisted arm reaching exercises for upper limb rehabilitation following a stroke, potentially impeding functional recovery. These aberrant movements are prevalent among stroke survivors and can hinder their progress in rehabilitation, making it crucial to address this issue. This study evaluated the efficacy of visual feedback, facilitated by an RGB-D camera, in reducing trunk compensation. In total, 17 able-bodied individuals and 18 stroke survivors performed reaching tasks under unrestricted trunk conditions and visual feedback conditions. In the visual feedback modalities, the target position was synchronized with trunk movement at ratios where the target moved at the same speed, double, and triple the trunk's motion speed, providing real-time feedback to the participants. Notably, trunk compensatory movements were significantly diminished when the target moved at the same speed and double the trunk's motion speed. Furthermore, these conditions exhibited an increase in the task completion time and perceived exertion among stroke survivors. This outcome suggests that visual feedback effectively heightened the task difficulty, thereby discouraging unnecessary trunk motion. The findings underscore the pivotal role of customized visual feedback in correcting aberrant upper limb movements among stroke survivors, potentially contributing to the advancement of robotic-assisted rehabilitation strategies. These insights advocate for the integration of visual feedback into rehabilitation exercises, highlighting its potential to foster more effective recovery pathways for post-stroke individuals by minimizing undesired compensatory motions.


Subject(s)
Arm , Feedback, Sensory , Movement , Robotics , Stroke Rehabilitation , Stroke , Humans , Stroke Rehabilitation/methods , Male , Feedback, Sensory/physiology , Robotics/methods , Female , Middle Aged , Arm/physiopathology , Arm/physiology , Stroke/physiopathology , Movement/physiology , Adult , Exercise Therapy/methods , Torso/physiopathology , Torso/physiology , Aged , Survivors , Upper Extremity/physiopathology
2.
IEEE Int Conf Rehabil Robot ; 2023: 1-6, 2023 09.
Article in English | MEDLINE | ID: mdl-37941193

ABSTRACT

This study investigates the effectiveness of visual feedback in reducing trunk compensation during one-arm reaching exercises using an end-effector robot. Results suggest that visual feedback is more effective than verbal feedback in suppressing trunk compensation, as evidenced by lower trunk movements. Synchronized target position with respect to trunk motion exhibited a suppressive effect on trunk motion, as observed by a reduction in trunk standard deviation, trunk root mean square, and trunk difference between the starting and ending positions. These findings have important implications for developing feedback techniques to address unnatural upper limb reach movements in stroke survivors during rehabilitation programs. However, the study's limitations, such as small sample size, should be considered. Future research should explore feedback techniques in different patient populations and exercise types and evaluate their long-term effects.


Subject(s)
Stroke Rehabilitation , Stroke , Humans , Stroke Rehabilitation/methods , Feedback, Sensory , Upper Extremity , Movement
3.
Seizure ; 111: 165-171, 2023 Oct.
Article in English | MEDLINE | ID: mdl-37639958

ABSTRACT

BACKGROUND: Current guidelines set clinical standards for the management of suspected first seizures and epilepsy. We aimed to assess if these standards are being met across first seizure clinics nationally, to describe variations in care and identify opportunities for service delivery improvement. METHODS: Multicentre audit assessing the care of adults (≥16 years) referred to first seizure clinics from 31st December 2019 going backwards (30 consecutive patients per centre). Patients with pre-existing diagnosis of epilepsy were excluded. Anonymised referral, clinic, and follow-up data are reported with descriptive statistics. RESULTS: Data provided for 727 patients from 25 hospitals in the UK and Ireland (median age 41 years [IQR 26-59], 52% males). Median time to review was 48 days (IQR 26-86), with 13.8% (IQR 3.3%-24.0%) of patients assessed within 2 weeks. Seizure recurrence was seen in 12.7% (IQR 6.6%-17.4%) of patients awaiting first appointment. Documentation for witness accounts and driving advice was evident in 85.0% (IQR 74.0%-100%) and 79.7% (IQR 71.2%-96.4%) of first seizure/epilepsy patients, respectively. At first appointment, discussion of sudden unexpected death in epilepsy was documented in 30.1% (IQR 0%-42.5%) of patients diagnosed with epilepsy. In epilepsy patients, median time to MRI neuroimaging was 37 days [IQR 22-56] and EEG was 30 days [IQR 19-47]. 30.4% ([IQR 0%-59.5%]) of epilepsy patients were referred to epilepsy nurse specialists. CONCLUSIONS: There is variability nationally in the documented care of patients referred to first seizure clinics. Many patients are facing delays to assessment with epilepsy specialists with likely subsequent impact on further management.

4.
BMJ Open ; 13(2): e066339, 2023 02 07.
Article in English | MEDLINE | ID: mdl-36750288

ABSTRACT

INTRODUCTION: Hydrocephalus and myelomeningocele (MMC) place disproportionate burdens of disease on low-income and middle-income countries (LMICs). MMC-associated hydrocephalus and its sequelae result in a spectrum of severely devastating clinical manifestations, for which LMICs are disproportionately unprepared in terms of human, capital and technological resources. This study aims to review and compare the management and outcomes of infant MMC-associated hydrocephalus in LMICs and high-income countries. METHODS AND ANALYSIS: This systematic review and meta-analysis will follow the Preferred Reporting Items for Systematic Reviews and Meta-Analyses 2020 guidelines. The following databases will be searched without restrictions on language, publication date or country of origin: EMBASE, MEDLINE, The Cochrane Library, Global Index Medicus, African Journals Online and SciELO. All peer-reviewed studies of primary data reporting management and outcomes of infant MMC-associated hydrocephalus will be included. Where high-quality homogeneous studies exist, meta-analyses will be conducted to compare the management and outcomes of MMC-associated hydrocephalus across socioeconomic and geographical regions of the world. The primary outcome will be treatment failure of the first-line hydrocephalus treatment, which we defined operationally as the performance of a second intervention for the same reason as the first. Secondary outcomes include time to failure, rates of mortality and postoperative complications. ETHICS AND DISSEMINATION: Ethical approval was not applicable because this study does not involve human participants. Dissemination strategies will include publication in a peer-reviewed journal, oral and poster presentations at conferences and an interactive web application to facilitate interaction with the findings and promote the discussion and sharing of findings on social media. PROSPERO REGISTRATION NUMBER: CRD42021285850.


Subject(s)
Hydrocephalus , Meningomyelocele , Infant , Humans , Developing Countries , Income , Treatment Failure , Research Design , Meta-Analysis as Topic , Systematic Reviews as Topic
5.
Vascular ; : 17085381221124990, 2022 Sep 02.
Article in English | MEDLINE | ID: mdl-36052681

ABSTRACT

OBJECTIVES: Abdominal aortic aneurysms (AAAs) demonstrating hostile neck anatomy (HNA) are associated with increased perioperative risk and mortality. A number of these patients are not suitable for standard endovascular aneurysm repair (EVAR) and are high risk for open surgery. We present our experience with the first implantations in Scotland of a novel conformable aortic stent-graft designed to overcome some of the challenges of HNAs. METHODS: From May 2018 to March 2022, 24 consecutive patients with non-ruptured AAAs demonstrating HNAs (neck length < 15 mm, or angulation > 60°) were treated with GORE Excluder Conformable AAA endoprosthesis (CLEVAR) (CEXC Device, W.L. Gore and Associates, Flagstaff, AZ, USA) at a Scottish vascular centre. We assessed clinical outcomes and technical success of CLEVAR during deployment, primary admission and the post-operative period at 3- and 12-month clinical follow-up alongside CT angiography. RESULTS: Twenty-four patients (20 males, mean age 75.6) were included. Primary technical success of proximal seal zones and CLEVAR deployment (no type 1/3 endoleaks, no conversion to open repair, AAA excluded and patient leaving theatre alive) was achieved in 100% of patients. All patients were alive and clinically stable at 3- and 12-month follow-up. There were five patients requiring re-intervention; at the 3-month follow-up, one patient (4.2%) developed a type 1b endoleak requiring graft limb extension, one patient developed a right common femoral artery dissection requiring open repair and one patient required a limb extension of the right iliac limb due to risk of developing a type 1b endoleak. At the 12-month follow-up, two patients required embolization of type 2 endoleaks and no patients demonstrated type 1 or type 3 endoleaks.Conclusions: In-hospital and post-operative 3- and 12-month clinical and angiographic outcomes demonstrate safety and efficacy with CLEVARs in treating unruptured AAAs with HNA. Further research involving larger heterogenous sample sizes is warranted to determine long-term clinical outcomes.

6.
Epileptic Disord ; 24(2): 302-314, 2022 Apr 01.
Article in English | MEDLINE | ID: mdl-34874273

ABSTRACT

OBJECTIVE: Stroke is the commonest cause of epileptic seizures in older adults. Risk factors for post-stroke seizure (PSS) are well known, however, predicting PSS risk is clinically challenging. This study aimed to evaluate the predictive accuracy of PSS risk prediction models developed to date. METHODS: We performed a systematic review and meta-analysis of studies using MEDLINE and EMBASE from database inception to 28th December 2020. The search criteria included all peer-reviewed research articles, in which PSS risk prediction models were developed or validated for ischaemic and/or haemorrhagic stroke. Random-effects meta-analysis was used to generate summary statistics of model performance and receiver operating characteristic curves. Quality appraisal of studies was conducted using PROBAST. RESULTS: Thirteen original studies involving 182,673 stroke patients (mean age: 38-74.9 years; 29.4-60.9% males), reporting 15 PSS risk prediction models were included. The incidence of early PSS (occurring ≤one week from stroke onset) and late PSS (occurring >one week from stroke onset) was 4.5% and 2.1%, respectively. Cortical involvement, functional deficits, increasing lesion size, early seizures, younger age, and haemorrhage were the commonest predictors across the models. SeLECT demonstrated greatest predictive accuracy (AUC 0.77 [95% CI: 0.71-0.82]) for late PSS following ischaemic stroke, and CAVE for predicting late PSS following haemorrhagic stroke (AUC 0.81 [0.76-0.86]). Fourteen of 15 studies demonstrated a high risk of bias, with lack of model validation and reporting of performance measures on calibration and discrimination being the commonest reasons. SIGNIFICANCE: Although risk factors for PSS are widely documented, this review identified few multivariate models with low risk of bias, synthetising single variables into an individual prediction of seizure risk. Such models may help personalise clinical management and serve as useful research tools by identifying stroke patients at high risk of developing PSS for recruitment into studies of anti-epileptic drug prophylaxis.


Subject(s)
Brain Ischemia , Hemorrhagic Stroke , Stroke , Adult , Aged , Brain Ischemia/complications , Female , Humans , Male , Middle Aged , Prognosis , Seizures/drug therapy , Seizures/etiology , Stroke/complications
7.
J Pharmacopuncture ; 25(4): 396-403, 2022 Dec 31.
Article in English | MEDLINE | ID: mdl-36628347

ABSTRACT

Objectives: Gout is an inflammatory arthritis of the joints and soft tissues occurring due to deposition of monosodium urate (MSU) crystals, which are caused by persistent hyperuricemia. Soyeom pharmacopuncture is one treatment method that has been traditionally used for pain management in Oriental medicine. However, studies on its effect in reducing gout pain have been insufficient. Therefore, we selected Soyeom pharmacopuncture among natural products used in Korea as the new target of our study. Methods: The effects of Soyeom pharmacopuncture were examined in mouse models of acute gout induced by injection of MSU crystals into footpads. IL-1ß, IL-6, and TNF-α production were examined by immunoblotting and enzyme-linked immunosorbent assay as hallmarks of NLRP3 inflammasome and cytokine activation. Results: Soyeom pharmacopuncture reduced foot edema in gout-induced mice, as well as IL-1ß, nitrite, IL-6, and TNF-α production. Moreover, Soyeom pharmacopuncture also reduced MSU-induced gout inflammatory gene expressions, specifically those in the NF-kB pathway. Conclusion: Pharmacopuncture may serve as a new solution for other inflammatory diseases as well. Through active follow-up studies, we could thoroughly understand the clinical value of Soyeom pharmacopuncture.

8.
Neurol Clin Pract ; 11(1): 57-63, 2021 Feb.
Article in English | MEDLINE | ID: mdl-33968473

ABSTRACT

OBJECTIVE: To determine the interrater variability for TIA diagnostic agreement among expert clinicians (neurologists/stroke physicians), administrative data, and nonspecialists. METHODS: We performed a meta-analysis of studies from January 1984 to January 2019 using MEDLINE, EMBASE, and PubMed. Two reviewers independently screened for eligible studies and extracted interrater variability measurements using Cohen's kappa scores to assess diagnostic agreement. RESULTS: Nineteen original studies consisting of 19,421 patients were included. Expert clinicians demonstrate good agreement for TIA diagnosis (κ = 0.71, 95% confidence interval [CI] = 0.62-0.81). Interrater variability between clinicians' TIA diagnosis and administrative data also demonstrated good agreement (κ = 0.68, 95% CI = 0.62-0.74). There was moderate agreement (κ = 0.41, 95% CI = 0.22-0.61) between referring clinicians and clinicians at TIA clinics receiving the referrals. Sixty percent of 748 patient referrals to TIA clinics were TIA mimics. CONCLUSIONS: Overall agreement between expert clinicians was good for TIA diagnosis, although variation still existed for a sizeable proportion of cases. Diagnostic agreement for TIA decreased among nonspecialists. The substantial number of patients being referred to TIA clinics with other (often neurologic) diagnoses was large, suggesting that clinicians, who are proficient in managing TIAs and their mimics, should run TIA clinics.

9.
Ulster Med J ; 89(2): 95-100, 2020 Sep.
Article in English | MEDLINE | ID: mdl-33093694

ABSTRACT

The Queen's University Belfast Brain Society was set up in September 2018 to promote interest in the human brain. There were three main goals: firstly to provide opportunities for medical students to learn from neurologists and neurosurgeons outside their formal curriculum; secondly the Brain Society aimed to organise events that included students from other disciplines and to members of the general public who were interested in learning about aspects of neuroscience; thirdly to tackle neurophobia. In the last two years, there have been 14 events, ranging from formal lectures, to practical sessions and to patient-focused information evenings. We have sold over 1,600 tickets. This article covers how the Brain Society was set up, to inform students in other universities about the Belfast experience.


Subject(s)
Education, Medical, Undergraduate , Neurology/education , Societies, Medical , Humans , Northern Ireland , Students, Medical
10.
J Mass Spectrom ; 51(12): 1152-1156, 2016 Dec.
Article in English | MEDLINE | ID: mdl-27628951

ABSTRACT

In profiling of a specimen by matrix-assisted laser desorption ionization (MALDI) using a solid matrix, the solvent of the matrix solution extracts an analyte(s). A quantitative profiling cannot be achieved if the solvent evaporates before the complete extraction of the analyte. The extraction can become more quantitative when a liquid matrix dissolved in a solvent is used, which remains a liquid even after the evaporation of the solvent. To check this, radii of an analyte circle (rA ), a matrix solution drop (rD ) and a liquid matrix (rM ) remaining after the solvent evaporation were controlled. Three types of samples were prepared, case A (rA , rD < rM ), case B (rD ≤ rM < rA ) and case C (rM < rD < rA ). In case A, the analyte amount in the matrix layer determined by MALDI was the same as the prepared amount inside the analyte circle. In case B, the analyte amount was the same as the amount inside the matrix circle. Only the analytes in contact with the liquid matrix layer, not more and not less, are transferred to the matrix layer. In case C, the analyte amount was greater than the amount inside the matrix circle, presumably because some of the analyte outside the matrix circle was dissolved by the solvent of the matrix solution. Copyright © 2016 John Wiley & Sons, Ltd.

11.
J Am Soc Mass Spectrom ; 27(11): 1887-1890, 2016 11.
Article in English | MEDLINE | ID: mdl-27644944

ABSTRACT

The utility of sodium ion adducts produced by matrix-assisted laser desorption ionization for the quantification of analytes with multiple oxygen atoms was evaluated. Uses of homogeneous solid samples and temperature control allowed the acquisition of reproducible spectra. The method resulted in a direct proportionality between the ion abundance ratio I([A + Na]+)/I([M + Na]+) and the analyte concentration, which could be used as a calibration curve. This was demonstrated for carbohydrates, glycans, and polyether diols with dynamic range exceeding three orders of magnitude. Graphical Abstract ᅟ.

12.
Rapid Commun Mass Spectrom ; 30(3): 386-92, 2016 Feb 15.
Article in English | MEDLINE | ID: mdl-26754131

ABSTRACT

RATIONALE: In analyte profiling by matrix-assisted laser desorption/ionization (MALDI), drawing a quantitative profile map is an outstanding problem. Recently, we developed a method to quantify an analyte by MALDI, which is needed to solve the problem. Another requirement for quantitative profiling is the quantitative sample-to-matrix analyte transfer, which is investigated in this work. METHODS: MALDI-time-of-flight (TOF) spectra were acquired for samples produced by two methods. In one, a sample solution containing a matrix and an analyte was loaded with a pipet and dried. In the other, a sample was prepared by a consecutive process, i.e., loading-drying of an analyte solution followed by that of a matrix solution. Two different micro-spotters were used in the second method. Various mixtures of organic solvents with water were used to prepare matrix solutions. RESULTS: The organic solvent, matrix, and analyte used in the study did not affect the analyte transfer efficiency, whereas it improved as the water content in the solvent increased. It also improved as the liquid droplet emitted by a micro-spotter got larger. Use of a more polar solvent or a larger droplet increases the contact time between a solution droplet and the sample surface, which seems to be responsible for the improvement in the transfer efficiency. CONCLUSIONS: Sample-to-matrix analyte transfer occurred efficiently when polar solvents and/or large liquid droplets were used to produce solid samples for MALDI profiling with a micro-spotter. A long contact time between the sample surface and a matrix solution droplet is one of the requirements for quantitative profiling. Copyright © 2015 John Wiley & Sons, Ltd.


Subject(s)
Solvents/chemistry , Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization/instrumentation , Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization/methods
13.
Rapid Commun Mass Spectrom ; 29(8): 745-52, 2015 Apr 30.
Article in English | MEDLINE | ID: mdl-26406489

ABSTRACT

RATIONALE: In our previous analysis of the matrix-assisted laser desorption/ionization (MALDI) spectra of peptides, we treated their depth profiles in solid samples as homogeneous. Here, we wanted to determine if the reproducible MALDI spectra and linear calibration curves reported previously would be obtained even when the depth profiles were inhomogeneous. METHODS: We derived a formula relating shot-number-dependent ion abundance data in temperature-controlled MALDI with the analyte depth profile in a solid sample. We prepared samples containing peptides, amino acids, and serotonin in α-cyano-4-hydroxycinnamic acid matrix by vacuum-drying and micro-spotting methods, recorded their MALDI spectra, and analyzed them with the aforementioned formula. RESULTS: For the samples prepared by vacuum-drying, the analyte depth profiles were inhomogeneous and maximized at the sample surface. Although the MALDI spectra changed as the shot continued, their sum over the entire set of spectra acquired from a spot was reproducible. Similarly, a high-quality calibration curve could be obtained with the spectral data summed over the entire set. Depth profiles were homogeneous for samples prepared by micro-spotting. CONCLUSIONS: A method has been developed to obtain a reproducible MALDI spectrum and a linear calibration curve for an analyte with an inhomogeneous depth profile in a solid sample.


Subject(s)
Amino Acids/analysis , Peptides/analysis , Serotonin/analysis , Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization/methods , Coumaric Acids/chemistry , Reproducibility of Results
14.
J Am Soc Mass Spectrom ; 26(10): 1657-64, 2015 Oct.
Article in English | MEDLINE | ID: mdl-26122519

ABSTRACT

Sample inhomogeneity is one of the obstacles preventing the generation of reproducible mass spectra by MALDI and to their use for the purpose of analyte quantification. As a potential solution to this problem, we investigated MALDI with some liquid matrixes prepared by nonstoichiometric mixing of acids and bases. Out of 27 combinations of acids and bases, liquid matrixes could be produced from seven. When the overall spectral features were considered, two liquid matrixes using α-cyano-4-hydroxycinnamic acid as the acid and 3-aminoquinoline and N,N-diethylaniline as bases were the best choices. In our previous study of MALDI with solid matrixes, we found that three requirements had to be met for the generation of reproducible spectra and for analyte quantification: (1) controlling the temperature by fixing the total ion count, (2) plotting the analyte-to-matrix ion ratio versus the analyte concentration as the calibration curve, and (3) keeping the matrix suppression below a critical value. We found that the same requirements had to be met in MALDI with liquid matrixes as well. In particular, although the liquid matrixes tested here were homogeneous, they failed to display spot-to-spot spectral reproducibility unless the first requirement above was met. We also found that analyte-derived ions could not be produced efficiently by MALDI with the above liquid matrixes unless the analyte was sufficiently basic. In this sense, MALDI processes with solid and liquid matrixes should be regarded as complementary techniques rather than as competing ones.


Subject(s)
Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization/methods , Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization/standards , Aminoquinolines , Aniline Compounds , Calibration , Coumaric Acids , Models, Chemical , Reproducibility of Results
15.
J Mass Spectrom ; 50(3): 596-602, 2015 Mar.
Article in English | MEDLINE | ID: mdl-25800197

ABSTRACT

Previously, we reported that the matrix-assisted laser desorption ionization spectrum of a peptide became reproducible when an effective temperature was held constant. Using a calibration curve drawn by plotting the peptide-to-matrix ion abundance ratio versus the peptide concentration in a solid sample, a peptide could be quantified without the use of any internal standard. In this work, we quantified proteins by quantifying their tryptic peptides with the aforementioned method. We modified the digestion process; e.g. disulfide bonds were not cleaved, so that hardly any reagent other than trypsin remained after the digestion process. This allowed the preparation of a sample by the direct mixing of a digestion mixture with a matrix solution. We also observed that the efficiency of the matrix-to-peptide proton transfer, as measured by its reaction quotient, was similar for peptides with arginine at the C-terminus. With the reaction quotient averaged over many such peptides, we could rapidly quantify proteins. Most importantly, no peptide standard, not to mention its isotopically labeled analog, was needed in this method.


Subject(s)
Peptide Fragments/analysis , Proteins/analysis , Animals , Cattle , Humans , Peptide Fragments/chemistry , Peptide Fragments/metabolism , Proteins/chemistry , Proteins/metabolism , Sequence Analysis, Protein , Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization/methods , Trypsin/metabolism
16.
Technol Health Care ; 22(3): 387-94, 2014.
Article in English | MEDLINE | ID: mdl-24704651

ABSTRACT

Recently, the interest toward human longevity free from diseases is being converged as one system frame along with the development of mobile computing environment, diversification of remote medical system and aging society. Such converged system enables implementation of a bioinformatics system created as various supplementary information services by sensing and gathering health conditions and various bio-information of mobile users to set up medical information. The existing bio-information system performs static and identical process without changes after the bio-information process defined at the initial system configuration executes the system. However, such static process indicates ineffective execution in the application of mobile bio-information system performing mobile computing. Especially, an inconvenient duty of having to perform initialization of new definition and execution is accompanied during the process configuration of bio-information system and change of method. This study proposes a dynamic process design and execution method to overcome such ineffective process.


Subject(s)
Monitoring, Physiologic/instrumentation , Monitoring, Physiologic/methods , Telemedicine/instrumentation , Telemedicine/methods , Humans , Systems Integration , Telecommunications , User-Computer Interface
17.
Dev Dyn ; 238(7): 1701-8, 2009 Jul.
Article in English | MEDLINE | ID: mdl-19504460

ABSTRACT

Previously, we have successfully produced nine cloned piglets using Duroc donor cells. Among these clones, one showed distinct depigmentation of the skin and hair color during puberty. In this study, we selected a clone with depigmentation to investigate the etiology of the anomaly in somatic cell nuclear transfer. We hypothesized that genes related to Waardenburg syndrome (Mitf, Pax-3, Sox-10, Slug, and Kit) are closely associated with the depigmentation of pig, which was derived from somatic cell nuclear transfer (scNT). Total RNA was extracted from the ear tissue of affected and unaffected scNT-derived pigs, and the transcripts encoding Mitf, Pax-3, Sox-10, and Slug, together with the Kit gene, were amplified by reverse transcription-polymerase chain reaction, sequenced, and analyzed. The cDNA sequences from the scNT pig that showed progressive depigmentation did not reveal a mutation in these genes. Although we did not find any mutations in these genes, expression of the genes implicated in Waardenburg syndrome was severely down-regulated in the affected scNT pig when compared with unaffected scNT pigs. This down-regulation of gene expression may result in a previously undescribed phenotype that shows melanocyte instability, leading to progressive loss of pigmentation.


Subject(s)
Cloning, Organism/methods , Hair Color , Hypopigmentation/veterinary , Nuclear Transfer Techniques , Skin Pigmentation , Swine , Animals , Base Sequence , Cells, Cultured , Cloning, Molecular , DNA Methylation/physiology , Female , Gene Dosage/physiology , Genes/physiology , Hair Color/genetics , Hair Color/physiology , Hypopigmentation/genetics , Molecular Sequence Data , Polymorphism, Genetic , Pregnancy , Promoter Regions, Genetic , Proto-Oncogene Proteins c-kit/genetics , Proto-Oncogene Proteins c-kit/metabolism , Skin Pigmentation/genetics , Skin Pigmentation/physiology , Swine/embryology , Swine/genetics , Waardenburg Syndrome/genetics
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