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1.
Chem Eng J ; 416: 129152, 2021 Jul 15.
Artículo en Inglés | MEDLINE | ID: mdl-33654455

RESUMEN

The emergence of COVID-19 pandemic has severely affected human health and world economies. According to WHO guidelines, continuous use of face mask is mandatory for personal protection for restricting the spread of bacteria and virus. Here, we report a 3-ply cotton-PLA-cotton layered biodegradable face-mask containing encapsulated phytochemicals in the inner-filtration layer. The nano-fibrous PLA filtration layer was fabricated using needleless electrospinning of PLA & phytochemical-based herbal-extracts. This 3-layred face mask exhibits enhanced air permeability with a differential pressure of 35.78 Pa/cm2 and superior bacterial filtration efficiency of 97.9% compared to conventional face masks. Close-packed mesh structure of the nano-fibrous mat results in effective adsorption of particulate matter, aerosol particles, and bacterial targets deep inside the filtration layer. The outer hydrophobic layer of mask exhibited effective blood splash resistance up to a distance of 30 cm, ensuring its utilization for medical practices. Computational analysis of constituent phytochemicals using the LibDock algorithm predicted inhibitory activity of chemicals against the protein structured bacterial sites. The computational analysis projected superior performance of phytochemicals considering the presence of stearic acid, oleic acid, linoleic acid, and Arachidic acid exhibiting structural complementarity to inhibit targeted bacterial interface. Natural cotton fibers and PLA bio-polymer demonstrated promising biodegradable characteristics in the presence of in-house cow-dung based biodegradation slurry. Addition of jaggery to the slurry elevated the biodegradation performance, resulting in increment of change of weight from 07% to 12%. The improved performance was attributed to the increased sucrose content in biodegradation slurry, elevating the bacterial growth in the slurry. An innovative face mask has shown promising results for utilization in day-to-day life and medical frontline workers, considering the post-pandemic environmental impacts.

2.
Stroke ; 48(4): 939-945, 2017 04.
Artículo en Inglés | MEDLINE | ID: mdl-28292870

RESUMEN

BACKGROUND AND PURPOSE: Within different brain regions, we determine the comparative value of multiphase computed tomographic angiography (mCTA) and computed tomographic perfusion (CTP) in predicting follow-up infarction. METHODS: Patients with M1-middle cerebral artery occlusions were prospectively included in this multicenter study. Regional analysis was performed for each patient within Alberta Stroke Program Early CT Score regions M2 to M6. Regional pial vessel filling was assessed on mCTA in 3 ways: (1) Washout of contrast within pial vessels; (2) Extent of maximal pial vessel enhancement compared with contralateral hemisphere; (3) Delay in maximal pial vessel enhancement compared with contralateral hemisphere. Cerebral blood flow, cerebral blood volume, and Tmax data were extracted within these Alberta Stroke Program Early CT Score regions. Twenty-four- to 36-hour magnetic resonance imaging/CT was assessed for infarct in each Alberta Stroke Program Early CT Score region (defined as >20% infarction within that region). Mixed effects logistic regression models were used to compare mCTA and CTP parameters when predicting brain infarction. Area under the receiver operating characteristics was used to assess discriminative value of statistical models. RESULTS: Seventy-seven patients were included. mCTA parameter washout and CTP parameter Tmax were significantly associated with follow-up infarction in all models (P<0.05). The area under the receiver operating characteristic for mCTA models ranged from 92% to 94% and was not different compared with all CTP models (P>0.05). Mean Tmax and cerebral blood volume values were significantly different between each washout score (P<0.01) and each delay score category (P<0.01). Mean Tmax, cerebral blood flow, and cerebral blood volume values were significantly different between each extent score category (P<0.05). CONCLUSIONS: Similar to CTP, multiphase CTA can be used to predict tissue fate regionally in acute ischemic stroke patients.


Asunto(s)
Isquemia Encefálica/diagnóstico por imagen , Infarto de la Arteria Cerebral Media/diagnóstico por imagen , Evaluación de Resultado en la Atención de Salud , Accidente Cerebrovascular/diagnóstico por imagen , Tomografía Computarizada por Rayos X/métodos , Anciano , Anciano de 80 o más Años , Angiografía Cerebral/métodos , Angiografía por Tomografía Computarizada/métodos , Femenino , Humanos , Masculino , Persona de Mediana Edad , Imagen de Perfusión/métodos , Pronóstico , Estudios Prospectivos
3.
Stroke ; 46(3): 769-74, 2015 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-25677596

RESUMEN

BACKGROUND AND PURPOSE: Minor stroke and transient ischemic attack with an intracranial occlusion are associated with neurological deterioration and disability. Tenecteplase (TNK-tissue-type plasminogen activator) compared with alteplase is easier to administer, has a longer half-life, higher fibrin specificity, possibly a lower rate of intracranial hemorrhage, and may be an ideal thrombolytic agent in this population. METHODS: TNK-Tissue-Type Plasminogen Activator Evaluation for Minor Ischemic Stroke With Proven Occlusion (TEMPO-1) was a multicenter, prospective, uncontrolled, TNK-tissue-type plasminogen activator dose-escalation, safety, and feasibility trial. Patients with a National Institutes of Health Stroke Scale ≤5 within 12 hours of symptom onset, intracranial arterial occlusion on computed tomographic angiography and absence of well-evolved infarction were eligible. Fifty patients were enrolled; 25 patients at a dose of 0.1 mg/kg, and 25 patients at 0.25 mg/kg. Primary outcome was the rate of drug-related serious adverse events. Secondary outcomes included recanalization and 90-day neurological outcome (modified Rankin Scale, 0-1). RESULTS: Median baseline National Institutes of Health Stroke Scale was 2.5 (interquartile range, 1), and median age was 71 (interquartile range, 22) years. There were no drug-related serious adverse events in tier 1. In tier 2, there was 1 symptomatic intracranial hemorrhage (4%; 95% confidence interval, 0.01-20.0). Stroke progression occurred in 6% of cases. Overall, 66% had excellent functional outcome (modified Rankin Scale, 0-1) at 90 days. Recanalization rates were high; 0.1 mg/kg (39% complete and 17% partial), 0.25 mg/kg (52% complete and 9% partial). Complete recanalization was significantly related to excellent functional outcome (modified Rankin Scale, 0-1) at 90 days (relative risk, 1.65; 95% confidence interval, 1.09-2.5; P=0.026). CONCLUSIONS: Administration of TNK-tissue-type plasminogen activator in minor stroke with intracranial occlusion is both feasible and safe. A larger randomized controlled trial is needed to prove that this treatment is efficacious. CLINICAL TRIAL REGISTRATION URL: http://www.clinicaltrials.gov. Unique identifier: NCT01654445.


Asunto(s)
Isquemia Encefálica/tratamiento farmacológico , Fibrinolíticos/uso terapéutico , Ataque Isquémico Transitorio/tratamiento farmacológico , Accidente Cerebrovascular/tratamiento farmacológico , Activador de Tejido Plasminógeno/uso terapéutico , Anciano , Canadá , Progresión de la Enfermedad , Relación Dosis-Respuesta a Droga , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Tenecteplasa , Terapia Trombolítica/métodos , Resultado del Tratamiento
4.
Curr Protein Pept Sci ; 25(3): 226-243, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-37921168

RESUMEN

Bioconjugation techniques have emerged as powerful tools for enhancing the stability and targeting efficiency of protein and peptide therapeutics. This review provides a comprehensive analysis of the various bioconjugation strategies employed in the field. The introduction highlights the significance of bioconjugation techniques in addressing stability and targeting challenges associated with protein and peptide-based drugs. Chemical and enzymatic bioconjugation methods are discussed, along with crosslinking strategies for covalent attachment and site-specific conjugation approaches. The role of bioconjugation in improving stability profiles is explored, showcasing case studies that demonstrate successful stability enhancement. Furthermore, bioconjugation techniques for ligand attachment and targeting are presented, accompanied by examples of targeted protein and peptide therapeutics. The review also covers bioconjugation approaches for prolonging circulation and controlled release, focusing on strategies to extend half-life, reduce clearance, and design-controlled release systems. Analytical characterization techniques for bioconjugates, including the evaluation of conjugation efficiency, stability, and assessment of biological activity and targeting efficiency, are thoroughly examined. In vivo considerations and clinical applications of bioconjugated protein and peptide therapeutics, including pharmacokinetic and pharmacodynamic considerations, as well as preclinical and clinical developments, are discussed. Finally, the review concludes with an overview of future perspectives, emphasizing the potential for novel conjugation methods and advanced targeting strategies to further enhance the stability and targeting efficiency of protein and peptide therapeutics.


Asunto(s)
Péptidos , Proteínas , Preparaciones de Acción Retardada , Péptidos/farmacología , Péptidos/uso terapéutico , Proteínas/uso terapéutico
5.
Am J Med Genet A ; 161A(5): 1105-9, 2013 May.
Artículo en Inglés | MEDLINE | ID: mdl-23495138

RESUMEN

We report on a case of apparent germline mosaicism in a family of two sisters carrying a novel 19p13.13 deletion. The 11-year-old proposita was referred for evaluation of macrocephaly, moderate intellectual disability (ID), and episodic ataxia. Array comparative genomic hybridization (CGH) detected a 399 kb microdeletion with breakpoints within genes NFIX and CACNA1A. A similar deletion was also seen in the elder sibling who presented with macrocephaly, ID, and strabismus. The deletions were confirmed to be de novo after the parental aCGH analysis suggesting that this is an example of germinal mosaicism. This study contributes additional information for the newly identified 19p13 deletion syndrome and clarifies the clinical roles of genes in the involved region. This case of apparent germline mosaicism represents the only known family in the cohort of 1,800 patients analyzed by our group.


Asunto(s)
Canales de Calcio/genética , Trastornos de los Cromosomas/genética , Cromosomas Humanos Par 19/genética , Mutación de Línea Germinal , Discapacidad Intelectual/genética , Eliminación de Secuencia/genética , Adolescente , Hibridación Genómica Comparativa , Femenino , Humanos , Recién Nacido , Mosaicismo , Síndrome
6.
Indian Heart J ; 65(4): 491-2, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23993019

RESUMEN

The presence of tendon xanthomas is an almost certain indicator of familial hypercholesterolemia (FH). They also reflect coronary atherosclerotic burden and therefore must be treated aggressively. Tendon xanthomas also occur in two rare conditions, cerebrotendinous xanthomatosis and sitosterolemia, which are not easily confused with FH, can be easily differentiated with clinical history and biochemical tests.


Asunto(s)
Enfermedad Coronaria/diagnóstico , Hiperlipoproteinemia Tipo II/diagnóstico , Xantomatosis/diagnóstico , Angiografía Coronaria , Diagnóstico Diferencial , Prueba de Esfuerzo , Humanos , Hiperlipoproteinemia Tipo II/tratamiento farmacológico , Masculino , Tendones , Adulto Joven
7.
J Ayurveda Integr Med ; 14(6): 100805, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38043433

RESUMEN

Alopecia areata (AA) is a T-cell-mediated autoimmune illness characterized by intermittent, non-scarring hair loss, Alopecia totalis(AT) is a type of AA characterized by total hair loss on the face and scalp. Unfortunately, it is projected that 10-15 % of people with AA will advance to total hair loss on the scalp (AT) or hair loss on the scalp and body Alopecia Universalis (AU) only 10 % of patients with AT/AU recover completely. Treatment for severe AA is often unsatisfactory. The most popular AT/AU therapy techniques were topical steroid application and oral steroid administration. We present a case of Alopecia totalis that was treated with cupping therapy and ayurvedic treatments such as Punarnava Mandoor, manjistadi Kashaya, asanadi gana Kashaya, purnachandrodaya rasa, a churna combo, and Malatyadi and Dhurdhurapatradi taila for external application over scalp. The treatment's effectiveness is due to the synergistic action of all the herbs and the immunostimulant activity of cupping.

8.
Abdom Radiol (NY) ; 48(11): 3373-3381, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37620709

RESUMEN

PURPOSE: The study aims to determine the role of Sound Touch Elastography [STE] technique in staging liver fibrosis and predicting clinically significant gastro-esophageal varices among patients with chronic liver disease [CLD] keeping aspartate aminotransferase to platelet ratio index [APRI] as the reference standard. METHODS: A prospective short-term study including 60 eligible patients with CLD were staged as non-significant fibrosis [NSF], significant fibrosis [SF] and cirrhosis [C] based on APRI values. STE was performed on each patient obtaining multiple readings as per pre-defined standards. The intra-observer reliability between each measurement and its association with APRI staging was evaluated using relevant statistical variables. Further, Youden's index was used to define the optimum cut-off values on STE in differentiating the stages of fibrosis and in predicting clinically significant gastro-esophageal varices. RESULTS: Based on APRI cut-off values, 41.7% [n = 25] of the study population had cirrhosis, while 45% [n = 27] had significant fibrosis and 13.3% [n = 8] had NSF. The STE values in kPa showed a positive correlation with APRI values [(rs) = 0.837, p < 0.001]. The intra-class correlation estimates based on a mean rating [k = 5] was found to be 0.97 [0.95-0.99], implying an excellent agreement between the measurements. Optimum cut-off values in staging SF and C were 7.26 kPa [J = 0.73, sensitivity-85.19%, specificity-87.5%; 95% CI] and 13.79 kPa [J = 0.84, sensitivity-96.0%, specificity-88.89%; 95% CI]. The AUROC for each of these stages were 0.926 [0.785-0.987] and 0.976 [0.890-0.999], respectively. 23.3% [n = 14] of the study population had clinically significant gastro-esophageal varices with a value above 18.84 kPa [J = 0.88] showing a sensitivity of 92.85% and a specificity of 95.65% in predicting the same. CONCLUSION: The novel STE technique shows good accuracy in staging liver fibrosis as determined by APRI values and in prediction of clinically significant gastro-esophageal varices with excellent reliability. It shows promising prospects and can be integrated widely in clinical practice for assessment and staging of fibrosis in CLD.

9.
Cureus ; 15(3): e36322, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-37077611

RESUMEN

Background This study aims to provide a better knowledge of COVID-19 that will aid in the formulation of future health policy by detailing the pathophysiology, case detection, and treatment, as well as management and prevention activities. Methodology A cross-sectional, prospective study was conducted at the Department of Radio-Diagnosis and Imaging, Shri B.M. Patil Medical College, Vijayapura. A total of 90 patients who presented with clinical features of COVID-19 and patients above the age of 18 years suspected of COVID-19 who were referred to the Department of Radio-Diagnosis and Imaging were included in the study. Results The classical findings which are observed on CT imaging in patients with COVID-19 include the presence of ground-glass opacities which are bilateral in distribution predominantly affecting the lower lobes with a posterior predilection. Overall, more than 33% of the patients who recovered from severe COVID-19 had lung abnormalities resembling fibrosis on follow-up imaging performed within two weeks of the commencement of the disease. These individuals were older and had more severe sicknesses during the acute period. Conclusions Chest CT can detect COVID-19 progression or secondary cardiopulmonary problems such as acute respiratory distress syndrome, pulmonary embolism, superimposed pneumonia, or heart failure. Future research into the prognostic value of chest CT in COVID-19 is required.

10.
Am J Med Genet A ; 158A(11): 2767-74, 2012 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-23023937

RESUMEN

As the resolution of molecular cytogenetic methods continues to improve, it has become increasingly possible to refine genotype-phenotype correlations based upon gene involvement. We report three new patients with nonrecurrent deletions involving subbands of 2q24. These patients were referred for evaluation of developmental delay, but were found to have unique, nonoverlapping clinical features. Patient 1 presented with infantile seizures, microcephaly, and brain anomalies, along with facial dysmorphism, growth retardation, neuromuscular scoliosis, and later with developmental regression. Array comparative genomic hybridization (aCGH) detected an 8 Mb interstitial deletion encompassing the neuronal sodium channel (SCN) gene cluster. Patient 2 presented with growth retardation, congenital heart defect, and hypotonia. Patient 3 presented with developmental delay and behavioral problems. Patients 2 and 3 had no history of seizures, microcephaly, or brain anomalies and were found to have deletions of 2q24, ∼8 Mb and <500 kb respectively, centromeric to and outside the SCN cluster. It has been demonstrated that mutations and copy number variants (CNVs) affecting the SCN gene cluster result in severe, early-onset seizures. It is however, less clear whether haploinsufficiency of regions outside the SCN cluster may result in phenotypically recognizable and clinically significant features. We discuss additional dosage sensitive genes that may exist outside the SCN cluster. Our and published data indicate that 2q24 deletions not involving the SCN cluster are associated with fewer neurobehavioral problems, but may predispose to congenital malformations.


Asunto(s)
Anomalías Múltiples/diagnóstico , Anomalías Múltiples/genética , Deleción Cromosómica , Familia de Multigenes , Canales de Sodio/genética , Niño , Preescolar , Cromosomas Humanos Par 2 , Hibridación Genómica Comparativa , Facies , Femenino , Estudios de Asociación Genética , Humanos , Hibridación Fluorescente in Situ , Lactante , Recién Nacido , Masculino
11.
Am J Med Genet A ; 155A(2): 418-23, 2011 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-21271665

RESUMEN

Microdeletions of the long arm of chromosome 17 are being reported with increasing frequency. Deletions of 17q22q23.2 may represent a genetically recognizable phenotype although its spectrum of genomic abnormalities, clinical manifestations, and critical regions are not fully delineated. Isolated reports and small case series suggest that deletions of 17q22q23.2 result in haploinsufficiency of dosage sensitive genes NOG, TBX2, and TBX4, which may be responsible for many aspects of the phenotype. Shared clinical features in this group of patients include microcephaly, prenatal onset growth restriction, heart defects, tracheoesophageal fistula, and esophageal atresia (TEF/EA), skeletal anomalies, and moderate to severe global developmental delay. We describe a female patient who presented with severe congenital microcephaly, thyroglossal duct cyst, sensorineural hearing loss, mild tracheomalacia, abnormal auricles, pulmonary hypertension, developmental delay, and postnatal onset growth delay. She had no TEF/EA or heart defects. Using a high density oligonucleotide microarray, we identified a microdeletion at 17q22q23.2, resulting in the heterozygous loss of several genes, including TBX2 and TBX4 but not NOG. The breakpoints did not lie within known segmental duplications. This case helps to further delineate the critical region for TEF/EA, which is likely confined to the chromosomal region proximal to 17q23.1, and suggests that genes in 17q23.1q23.2 may be associated with thyroglossal duct cysts. The role of TBX2 and TBX4 in pulmonary hypertension warrants investigation.


Asunto(s)
Anomalías Múltiples/patología , Fenotipo , Proteínas de Dominio T Box/genética , Anomalías Múltiples/genética , Preescolar , Deleción Cromosómica , Cromosomas Humanos Par 17/genética , Hibridación Genómica Comparativa , Femenino , Pérdida Auditiva Sensorineural/patología , Humanos , Hipertensión Pulmonar/patología , Microcefalia/patología , Síndrome de Smith-Magenis , Glándula Tiroides/patología
12.
Am J Med Genet A ; 155A(9): 2224-8, 2011 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-21815251

RESUMEN

Larger imbalances on chromosome 4p in the form of deletions associated with Wolf-Hirschhorn syndrome (WHS) and duplications of chromosome 4p have a defined clinical phenotype. The critical region for both these clinical disorders has been narrowed based on the genotype-phenotype correlations. However, cryptic rearrangements in this region have been reported infrequently. We report on a male patient with a microduplication of chromosome 4p, who presents with findings of macrocephaly, irregular iris pigmentation-heterochromia, and preserved linear growth in addition to overlapping features of trisomy 4p such as seizures, delayed psychomotor development, and dysmorphic features including prominent glabella, low-set ears, and short neck. Using a high-density oligonucleotide microarray, we have identified a novel submicroscopic duplication involving dosage sensitive genes TACC3, FGFR3, and LETM1. The microduplication did not involve WHSC1 and WHSC2 which are considered in the critical region for WHS and trisomy 4p. This patient's presentation and genomic findings help further delineate clinical significance of re-arrangements in the 4p16 region without the involvement of WHS critical region.


Asunto(s)
Anomalías Múltiples/genética , Duplicación Cromosómica , Cromosomas Humanos Par 4/genética , Aberraciones Cromosómicas , Estudios de Asociación Genética , Genotipo , N-Metiltransferasa de Histona-Lisina/genética , Humanos , Lactante , Enfermedades del Iris/genética , Masculino , Megalencefalia/genética , Análisis de Secuencia por Matrices de Oligonucleótidos , Fenotipo , Trastornos de la Pigmentación/genética , Proteínas Represoras/genética , Factores de Elongación Transcripcional/genética , Síndrome de Wolf-Hirschhorn/genética
13.
Front Robot AI ; 7: 113, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33501279

RESUMEN

Automatic fingerprint identification systems (AFIS) make use of global fingerprint information like ridge flow, ridge frequency, and delta or core points for fingerprint alignment, before performing matching. In latent fingerprints, the ridges will be smudged and delta or core points may not be available. It becomes difficult to pre-align fingerprints with such partial fingerprint information. Further, global features are not robust against fingerprint deformations; rotation, scale, and fingerprint matching using global features pose more challenges. We have developed a local minutia-based convolution neural network (CNN) matching model called "Combination of Nearest Neighbor Arrangement Indexing (CNNAI)." This model makes use of a set of "n" local nearest minutiae neighbor features and generates rotation-scale invariant feature vectors. Our proposed system doesn't depend upon any fingerprint alignment information. In large fingerprint databases, it becomes very difficult to query every fingerprint against every other fingerprint in the database. To address this issue, we make use of hash indexing to reduce the number of retrievals. We have used a residual learning-based CNN model to enhance and extract the minutiae features. Matching was done on FVC2004 and NIST SD27 latent fingerprint databases against 640 and 3,758 gallery fingerprint images, respectively. We obtained a Rank-1 identification rate of 80% for FVC2004 fingerprints and 84.5% for NIST SD27 latent fingerprint databases. The experimental results show improvement in the Rank-1 identification rate compared to the state-of-art algorithms, and the results reveal that the system is robust against rotation and scale.

14.
Front Robot AI ; 7: 594412, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33501354

RESUMEN

Automatic Latent Fingerprint Identification Systems (AFIS) are most widely used by forensic experts in law enforcement and criminal investigations. One of the critical steps used in automatic latent fingerprint matching is to automatically extract reliable minutiae from fingerprint images. Hence, minutiae extraction is considered to be a very important step in AFIS. The performance of such systems relies heavily on the quality of the input fingerprint images. Most of the state-of-the-art AFIS failed to produce good matching results due to poor ridge patterns and the presence of background noise. To ensure the robustness of fingerprint matching against low quality latent fingerprint images, it is essential to include a good fingerprint enhancement algorithm before minutiae extraction and matching. In this paper, we have proposed an end-to-end fingerprint matching system to automatically enhance, extract minutiae, and produce matching results. To achieve this, we have proposed a method to automatically enhance the poor-quality fingerprint images using the "Automated Deep Convolutional Neural Network (DCNN)" and "Fast Fourier Transform (FFT)" filters. The Deep Convolutional Neural Network (DCNN) produces a frequency enhanced map from fingerprint domain knowledge. We propose an "FFT Enhancement" algorithm to enhance and extract the ridges from the frequency enhanced map. Minutiae from the enhanced ridges are automatically extracted using a proposed "Automated Latent Minutiae Extractor (ALME)". Based on the extracted minutiae, the fingerprints are automatically aligned, and a matching score is calculated using a proposed "Frequency Enhanced Minutiae Matcher (FEMM)" algorithm. Experiments are conducted on FVC2002, FVC2004, and NIST SD27 latent fingerprint databases. The minutiae extraction results show significant improvement in precision, recall, and F1 scores. We obtained the highest Rank-1 identification rate of 100% for FVC2002/2004 and 84.5% for NIST SD27 fingerprint databases. The matching results reveal that the proposed system outperforms state-of-the-art systems.

15.
J Speech Lang Hear Res ; 52(5): 1157-74, 2009 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-19797137

RESUMEN

PURPOSE: The aims of this study were (a) to locate the breakpoints of a balanced translocation (7;13) within a mother (B) and daughter (T); (b) to describe the language and cognitive skills of B and T; and (c) to compare this profile with affected family members of the KE family who have a mutation within FOXP2. METHOD: The breakpoint locations for T and B were identified by use of fluorescent in situ hybridization analysis followed by DNA sequencing using long-range polymer chain reaction amplification methods. The cognitive and language characteristics were obtained via the use of standardized tests of intelligence, receptive and expressive vocabulary and sentence use, and a spontaneous language sample. RESULTS: The translocation breakpoints in T and B were found in FOXP2 on chromosome 7 and in RFC3 on chromosome 13. T and B's pattern of relative strengths and weaknesses across their cognitive and language performance was found to be similar to descriptions of the affected KE family members. CONCLUSIONS: Prior reports of individuals with chromosomal rearrangements of FOXP2 have emphasized their speech impairment. This study provides additional evidence that language-in particular, grammar-is likely to be influenced by abnormalities of FOXP2 function.


Asunto(s)
Cromosomas Humanos Par 7 , Factores de Transcripción Forkhead/genética , Desarrollo del Lenguaje , Trastornos del Lenguaje/genética , Translocación Genética , Secuencia de Bases , Salud de la Familia , Femenino , Humanos , Hibridación Fluorescente in Situ , Pruebas de Inteligencia , Persona de Mediana Edad , Datos de Secuencia Molecular , Madres , Núcleo Familiar , Vocabulario , Adulto Joven
16.
Artículo en Inglés | MEDLINE | ID: mdl-19165360

RESUMEN

Heart is one of the most frequently affected organs in electrocution. Electrical injury can cause life-threatening cardiac complications such as asystole, ventricular fibrillation, and myocardial rupture. In this case report, we describe a 22-yr-old male patient who sustained electric burn injury and presented with electrocardiogram showing transient Brugada type pattern.

17.
J Cardiol Cases ; 20(5): 180-182, 2019 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-31719940

RESUMEN

A dual left anterior descending (LAD) coronary artery is a rare, and benign congenital anomaly. In this anomaly, there is the presence of two LADs in the anterior inter ventricular sulcus (AIVS). One of the LADs is a short one that ends high in the AIVS. The other longer one enters the distal AIVS and feeds the apex. To date, 9 types of dual LAD variants, and one novel type X has been reported. Herein, we report a case of type X dual LAD with a literature review. .

18.
Int J Oncol ; 33(2): 239-44, 2008 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-18636143

RESUMEN

The Cancer and Leukemia Group B has performed central review of karyotypes submitted by institutional cytogenetics laboratories from patients with acute myeloid (AML) and acute lymphoblastic (ALL) leukemia since 1986. We assessed the role of central karyotype review in maintaining accurate, high quality cytogenetic data for clinical and translational studies using two criteria: the proportion of karyotypes rejected (i.e. inadequate), and, among accepted (i.e. adequate) cases, the proportion of karyotypes whose interpretation was changed on central karyotype review. We compared the first four years during which central karyotype review was performed with a recent 4-year period and found that the proportion of rejected samples decreased significantly for both AML and ALL. However, during the latter period, central karyotype reviews still found 8% of AML and 16% of ALL karyotypes inadequate. Among adequate cases, the karyotype was revised in 26% of both AML and ALL samples. Some revisions resulted in changing the patients' assignment to particular World Health Organization diagnostic categories and/or moving patients from one prognostic group to another. Overall, when both data on rejection rates and data on karyotype revisions made in accepted cases were considered together, 32% of AML and 38% of ALL samples submitted were either rejected or revised on central karyotype review during the recent 4-year period. These data underscore the necessity of continued central karyotype review in multi-institutional cooperative group studies.


Asunto(s)
Citogenética/normas , Cariotipificación , Leucemia Mieloide Aguda/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Adulto , Humanos , Leucemia Mieloide Aguda/diagnóstico , Leucemia-Linfoma Linfoblástico de Células Precursoras/diagnóstico
20.
Interv Med Appl Sci ; 10(4): 186-190, 2018 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-30792910

RESUMEN

OBJECTIVES: Although rare, incidents of broken/dislodged fragment of various angioplasty hardwares, including catheters, guidewires, angioplasty balloons, and stents, are being increasingly reported in recent years. Since these broken fragments may cause life-threatening consequences for a patient, it is vital for an interventional cardiologist to be acquainted with different retrieval techniques. Here, we are reporting our observations of several incidents of device dislodgement/fracture during cardiac interventions and their retrieval using simple balloon method. METHODS: We present a study of eight patients in whom we attempted to retrieve dislodged/fractured cath-lab hardwares during cardiac interventions, using simple balloon method. These cases include two cases of balloon, three cases of stent, and three cases of guidewire dislodgement/fracture. RESULTS: Fractured/dislodged cath-lab hardwares were successfully retrieved using a simple balloon method in six out of eight cases (75%), without any need of other retrieval hardwares. We observed no major complications in any patient. CONCLUSIONS: The balloon-assisted retrieval method is a simple, safe, and cost-effective way to avoid complications of endothelial injury, myocardial infarction, emergency coronary artery bypass graft, and sudden cardiac death. This study, particularly the context of retrieval technique used in each case, will offer valuable information to fellow interventional cardiologists.

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