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1.
Eur Spine J ; 30(9): 2670-2679, 2021 09.
Artículo en Inglés | MEDLINE | ID: mdl-34251572

RESUMEN

PURPOSE: Oswestry Disability Index (ODI) was established by Fairbank in 1989 to assess functional disabilities in low back pain (LBP). It was last updated in 2019 as ODI version 2.1b (ODI AU_2.1b). ODI was first translated into Simplified Chinese Oswestry Disability Index (CODI) in 2008 by Lue. The construct validity, internal consistency, level of agreement and the floor and ceiling effects of CODI were found unclear by Yao in 2016. This study will verify how well the adapted Cantonese-Hong Kong Oswestry Disability Index version 2.1b (HKCODI) aligns with ODI AU_2.1b in the Southern Chinese population. METHODS: The translation of ODI AU_2.1b was performed according to guidelines from MAPI Research Trust and American Association of Orthopaedic Surgeons. Psychometric properties of HKCODI were tested statistically by Pearson's correlation, Cronbach's Alpha and Intraclass  Correlation  Coefficient (ICC). RESULTS: A total of 200 subjects (109 males, 91 females) aged from 15 to 85 (mean age = 58.91) with LBP scored from 3/10 to 10/10 in the Visual Analogue Scale (VAS) were recruited in the Occupational Therapy Department of a tertiary referral center. HKCODI demonstrated strong construct validity in comparing with Hong Kong Roland-Morris Disability Questionnaire (HKRMDQ) (r = 0.666, p = 0.000), Short Form Health Survey (SF-36)  Physical Composite Summary (- 0.700, p = 0.000) and VAS (0.487, p = 0.000). Excellent internal consistency and test-retest reliability were confirmed with Cronbach's Alpha of 0.997 and ICC of 0.993 at 95% confidence level. CONCLUSION: Cross-cultural adaptation of ODI AU_2.1b has been translated and validated as   HKCODI and Item-8 (Sex Life) was suggested to skip for patient older than 60. HKCODI is a fully self-administered and highly reliable tool in assessing the functional disability of patients with LBP in the Southern Chinese population.


Asunto(s)
Comparación Transcultural , Evaluación de la Discapacidad , Femenino , Hong Kong , Humanos , Masculino , Persona de Mediana Edad , Reproducibilidad de los Resultados , Encuestas y Cuestionarios
2.
Clin Otolaryngol ; 43(1): 39-46, 2018 02.
Artículo en Inglés | MEDLINE | ID: mdl-28485064

RESUMEN

OBJECTIVE: To investigate emergency room (ER) revisits and hospital readmissions following adenotonsillectomy (T&A) in children with sleep-disordered breathing (SDB), and correlations between SDB severity and ER revisits. DESIGN: Retrospective chart review study. SETTING: Tertiary referral centre. PARTICIPANT: 610 consecutive children underwent T&A for treating SDB. MAIN OUTCOME MEASURES: Sleep-disordered breathing severity was defined according to the apnoea-hypopnoea index (AHI) (primary snoring = AHI < 1; mild = AHI 1-5; moderate = AHI 5-10; and severe = AHI > 10). Revisit and readmission patterns within 30 days of the surgery were extracted and analysed. RESULTS: Of these children (mean age = 7.2 years; males = 72%), 49 (8.0%) had first ER revisit, nine (1.5%) had second ER revisits, and one (0.2%) had third ER revisits. Reasons for ER revisits were bleeding related (46%) or non-bleeding related (54%). The timing for revisits was 6.9±1.9 postoperative days for bleeding-related revisits and 9.3±10.0 days for non-bleeding-related revisits. Treatment strategies during these revisits were treat and release in 44 children (74.6%), admission for observation in eight children (13.5%), and admission for surgery in seven children (11.9%). The incidence of ER revisit and hospital readmission was similar among children with all levels of SDB severity. Multivariable logistic regression analysis showed that young children (<3 years) experienced an increased risk of non-bleeding-related revisits (odds ratio [OR] = 4.1). CONCLUSIONS: Children with severe SDB do not experience increased risks of revisit or readmission; however, young children are at increased risk of non-bleeding-related revisits.


Asunto(s)
Adenoidectomía/métodos , Servicio de Urgencia en Hospital/estadística & datos numéricos , Complicaciones Posoperatorias/epidemiología , Síndromes de la Apnea del Sueño/cirugía , Tonsilectomía/métodos , Adolescente , Niño , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Incidencia , Lactante , Masculino , Readmisión del Paciente/tendencias , Polisomnografía , Complicaciones Posoperatorias/diagnóstico , Estudios Retrospectivos , Índice de Severidad de la Enfermedad , Síndromes de la Apnea del Sueño/diagnóstico , Taiwán/epidemiología
3.
Genomics ; 103(2-3): 169-76, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-24603341

RESUMEN

Exome and whole-genome analyses powered by next-generation sequencing (NGS) have become invaluable tools in identifying causal mutations responsible for Mendelian disorders. Given that individual exomes contain several thousand single nucleotide variants and insertions/deletions, it remains a challenge to analyze large numbers of variants from multiple exomes to identify causal alleles associated with inherited conditions. To this end, we have developed user-friendly software that analyzes variant calls from multiple individuals to facilitate identification of causal mutations. The software, termed exomeSuite, filters for putative causative variants of monogenic diseases inherited in one of three forms: dominant, recessive caused by a homozygous variant, or recessive caused by two compound heterozygous variants. In addition, exomeSuite can perform homozygosity mapping and analyze the variant data of multiple unrelated individuals. Here we demonstrate that filtering of variants with exomeSuite reduces datasets to a fraction of a percent of their original size. To the best of our knowledge this is the first freely available software developed to analyze variant data from multiple individuals that rapidly assimilates and filters large data sets based on pattern of inheritance.


Asunto(s)
Conjuntos de Datos como Asunto , Exoma , Enfermedades Genéticas Congénitas/genética , Mutación INDEL , Polimorfismo de Nucleótido Simple , Programas Informáticos , Alelos , Análisis Mutacional de ADN/métodos , Femenino , Estudio de Asociación del Genoma Completo/métodos , Heterocigoto , Homocigoto , Humanos , Masculino , Linaje
4.
Int J Obes (Lond) ; 38(1): 27-31, 2014 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-24048143

RESUMEN

OBJECTIVES: In contrast to obstructive sleep apnea (OSA), central sleep apnea (CSA) in obese children has received lesser attention. As pediatric CSA is more prevalent than expected and adversely impacts health, this study aims to elucidate the major factors associated with central apnea index (CAI) and compare CSA between obese and non-obese children. METHODS: Retrospective analysis was performed in a tertiary referral medical center. Children with sleep-disordered breathing (SDB) ranging from 2-18 years old were enrolled. All participants completed history taking, otolaryngological examination and overnight polysomnography. CSA was defined as having CAI exceeding 1 h(-1). CAI and the prevalence of CSA were analyzed in children of different age groups, weight statuses and adenotonsillar sizes. RESULTS: A total of 487 cases were included. The prevalence of CSA was 13.3% (65/487). CAI was negatively correlated with age (r=-0.32, P<0.001). Obese children had a significantly lower CAI than that of non-obese ones (0.20 ± 0.36 vs 0.48 ± 0.82 h(-1), P<0.001). Multiple linear regression analysis demonstrated a relationship between CAI, age and obesity as 'CAI=0.883-0.055 × Age -0.22 × (Obesity)'. CONCLUSIONS: In children with SDB, younger ones have a significantly higher CAI than older ones. Additionally, obese children had a lower CAI than non-obese ones.


Asunto(s)
Tonsila Faríngea/patología , Tonsila Palatina/patología , Obesidad Infantil/fisiopatología , Síndromes de la Apnea del Sueño/complicaciones , Apnea Central del Sueño/fisiopatología , Adolescente , Análisis de Varianza , Niño , Preescolar , Femenino , Humanos , Masculino , Obesidad Infantil/complicaciones , Obesidad Infantil/prevención & control , Polisomnografía , Prevalencia , Estudios Retrospectivos , Apnea Central del Sueño/diagnóstico , Apnea Central del Sueño/etiología , Tonsilectomía
5.
Scand J Psychol ; 55(2): 136-41, 2014 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-24646046

RESUMEN

Subjective memory complaints (SMC) is a possible symptom of mild cognitive impairment which may progress to dementia. The present study examines the relationship of physical activity (PA), cognitive activity (CA), social activity (SA), and perceived health status (HS) with SMC for middle age and older adults. Participants were from the MIDUS II study (Midlife in the United States) recruited in 2004-2006 (Mean age = 55.99; N = 3030). Hierarchical multiple regression was performed with SMC as the dependent variable, along with PA, CA, SA, and HS as the independent variables. The study revealed that SMC was strongly related to PA, CA, and HS, while controlling covariates. Further, HS had the strongest link with SMC among these predictors while interaction effects (PA × HS, CA × HS, and SA × HS) were insignificant. In addition, different results were achieved in younger versus older groups. Participants with more CA, PA and perception of better health had lower frequency of memory complaints.


Asunto(s)
Envejecimiento/psicología , Disfunción Cognitiva/psicología , Trastornos de la Memoria/psicología , Actividad Motora , Autoimagen , Adulto , Anciano , Femenino , Estudios de Seguimiento , Estado de Salud , Encuestas Epidemiológicas , Humanos , Masculino , Memoria , Persona de Mediana Edad
6.
Int J Obes (Lond) ; 37(4): 527-31, 2013 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-23183325

RESUMEN

OBJECTIVE: To investigate the impacts of body weight status on surgical outcomes and shifts of body weight status after adenotonsillectomy(T&A) in children with obstructive sleep apnea (OSA). METHODS: From 2009 to 2011, 161 children (mean age, 7.0 ± 3.4 years; 78% boys) were included. All the children had clinical symptoms and preoperative polysomnographic evaluations diagnosis of OSA. Children were divided into four weight status groups (underweight, normal weight, overweight and obese), based on age and gender corrected body mass index (BMI). RESULTS: Following T&A, the four different weight status groups significantly improved in apnea/hypopnea index (AHI) and minimum oxygen saturation. However, 49.1% of the children (79/161) had residual OSA (AHI ≥ 1). The incidence of residual OSA (AHI ≥ 1) in the obese group was 75%, which was significantly higher than the other three groups (P<0.01). Weight status changes after T&A were documented, and 54% (13/24) of the underweight children shifted to normal weight status within 6 months after surgery. CONCLUSION: Although sleep parameters improved in all weight statuses, obese children had a higher incidence of residual OSA postoperatively. About half of the underweight children shifted to normal weight status after T&A.


Asunto(s)
Adenoidectomía , Índice de Masa Corporal , Sobrepeso/complicaciones , Polisomnografía , Apnea Obstructiva del Sueño/cirugía , Tonsilectomía , Peso Corporal , Niño , Preescolar , Femenino , Humanos , Masculino , Sobrepeso/epidemiología , Polisomnografía/métodos , Periodo Posoperatorio , Periodo Preoperatorio , Prevención Secundaria , Apnea Obstructiva del Sueño/epidemiología , Apnea Obstructiva del Sueño/prevención & control , Taiwán/epidemiología , Delgadez , Resultado del Tratamiento
7.
Int J Obes (Lond) ; 36(7): 920-4, 2012 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-22270381

RESUMEN

OBJECTIVE: The relationship between weight status, adenotonsillar hypertrophy and obstructive sleep apnea (OSA) in children has not yet been well studied. As the sleep parameters may show a disparity in different weight statuses, this study examined the relationship between the data of over-night polysomnography and different weight statuses, as well as the impact of adenotonsillar hypertrophy on children with OSA. METHODS: Children with sleep disturbances were recruited from our clinics. Standard physical examinations, history taking, lateral neck roentgenography, and full-night polysomnography were obtained. Children were divided into four groups based on the age- and gender-corrected body mass index (BMI): underweight, normal weight, overweight and obese. An adenoidal/nasopharyngeal ratio of more than 0.67 was considered adenoidal hypertrophy. Tonsillar hypertrophy was defined as having Grade III tonsils or above. RESULTS: From July 2006 to January 2009, 197 children were included in this study. Obese children had a significantly higher apnea-hypopnea index (AHI), obstructive apnea index and lower minimum oxygen saturation (MinSaO(2)) than those of the other groups. Underweight children had the second highest AHI. A negative correlation was also found between BMI z scores and MinSaO(2) (r = -0.194; P = 0.007). Children with tonsillar hypertrophy (P = 0.001) were associated with a higher risk of having OSA. The risk of having OSA was significantly higher in obese children (P = 0.001) and underweight children (P = 0.043) than in those with a normal weight. CONCLUSION: Obesity, underweight status and tonsillar hypertrophy are associated with children having OSA, and obese children have a significantly higher risk than children with underweight status.


Asunto(s)
Tonsila Faríngea/patología , Sobrepeso/epidemiología , Tonsila Palatina/patología , Apnea Obstructiva del Sueño/epidemiología , Delgadez/epidemiología , Adolescente , Factores de Edad , Índice de Masa Corporal , Peso Corporal , Niño , Preescolar , Femenino , Humanos , Hipertrofia , Masculino , Sobrepeso/complicaciones , Polisomnografía , Factores de Riesgo , Apnea Obstructiva del Sueño/etiología , Apnea Obstructiva del Sueño/patología , Taiwán/epidemiología , Delgadez/complicaciones
8.
AJNR Am J Neuroradiol ; 42(8): 1444-1451, 2021 08.
Artículo en Inglés | MEDLINE | ID: mdl-34045303

RESUMEN

BACKGROUND AND PURPOSE: The shortcomings of synucleinopathy-based Parkinson disease staging highlight the need for systematic clinicopathologic elucidation and biomarkers. In this study, we investigated associations of proteinopathy and inflammation markers with changes in gray matter volume that accompany Parkinson disease progression. MATERIALS AND METHODS: We prospectively enrolled 42 patients with idiopathic Parkinson disease, subdivided into early-/late-stage groups and 27 healthy controls. Parkinson disease severity and participants' functional and cognitive performance were evaluated. Peripheral plasma α-synuclein, ß-amyloid42, and tau were quantified with immunomagnetic reduction assays, and nuclear DNA by polymerase chain reaction, and regional gray matter volumes were determined by MR imaging. Statistical tests identified stage-specific biomarkers and gray matter volume patterns in the early-stage Parkinson disease, late-stage Parkinson disease, and control groups. Correlations between gray matter volume atrophy, plasma biomarkers, Parkinson disease severity, and cognitive performance were analyzed. RESULTS: Patients with Parkinson disease had significantly elevated α-synuclein, tau, and ß-amyloid42 levels compared with controls; nuclear DNA levels were similar in early-stage Parkinson disease and controls, but higher in late-stage Parkinson disease (all P < .01). We identified 3 stage-specific gray matter volume atrophy patterns: 1) control > early-stage Parkinson disease = late-stage Parkinson disease: right midfrontal, left lingual, and fusiform gyri, left hippocampus, and cerebellum; 2) control > early-stage Parkinson disease > late-stage Parkinson disease: precentral, postcentral, parahippocampal, left superior-temporal, right temporal, right superior-frontal, and left cingulate gyri, occipital lobe, and bilateral parts of the cerebellum; 3) control = early-stage Parkinson disease > late-stage Parkinson disease: left midfrontal, superior-frontal and temporal, amygdala, and posterior cingulate gyri, caudate nucleus, and putamen. We discovered stage-specific correlations among proteinopathy, inflammation makers, topographic gray matter volume patterns, and cognitive performance that accompanied Parkinson disease progression. CONCLUSIONS: Identifying associations linking peripheral plasma biomarkers, gray matter volume, and clinical status in Parkinson disease may facilitate earlier diagnosis and improve prognostic accuracy.


Asunto(s)
Enfermedad de Parkinson , Atrofia/patología , Biomarcadores , Encéfalo/patología , Sustancia Gris/diagnóstico por imagen , Sustancia Gris/patología , Humanos , Imagen por Resonancia Magnética , Enfermedad de Parkinson/diagnóstico por imagen , Enfermedad de Parkinson/patología
9.
Eur Respir J ; 35(2): 373-80, 2010 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-19643936

RESUMEN

Repetitive inspiratory effort against an obstructed airway and intermittent hypoxia may be deleterious to the inspiratory muscles in patients with obstructive sleep apnoea (OSA). We investigated muscular dysfunction by comparing the strength, endurance and fatigability of inspiratory muscles and knee extensors in patients with newly diagnosed severe OSA compared with matched controls. The measurements included strength and endurance tests of both muscles, and a fatigue trial with simultaneous surface electromyography of the diaphragm and the vastus lateralis during voluntary contractions and in response to magnetic stimulation. To our knowledge, this is the first investigation to assess peripheral muscle performance in severe OSA patients versus controls. Patients in the OSA group exhibited significantly lower strength and endurance in both muscles than the control group. The fatigue index decreased significantly exclusively in the inspiratory muscles of OSA patients. Magnetic stimulation-evoked compound muscle action potential latencies increased and the amplitudes decreased significantly in the diaphragm, but not in the vastus lateralis after a fatigue test in the OSA group. In conclusion, a significantly lower functional performance was shown for both inspiratory muscles and knee extensors in the OSA group. However, higher fatigability was only seen in the inspiratory muscles of patients with severe OSA.


Asunto(s)
Inhalación/fisiología , Músculos Respiratorios/patología , Apnea Obstructiva del Sueño/fisiopatología , Adulto , Anciano , Electromiografía/métodos , Humanos , Hipoxia , Rodilla/fisiopatología , Magnetismo , Masculino , Persona de Mediana Edad , Conducción Nerviosa , Polisomnografía/métodos , Apnea Obstructiva del Sueño/diagnóstico
10.
Blood Cells Mol Dis ; 44(1): 16-21, 2010 Jan 15.
Artículo en Inglés | MEDLINE | ID: mdl-19818657

RESUMEN

Male subjects with iron deficiency from the general population were examined for polymorphisms or sporadic mutations in TMPRSS6 to identify genetic risk factors for iron deficiency anemia. Three uncommon non-synonymous polymorphisms were identified, G228D, R446W, and V795I (allele frequencies 0.0074, 0.023 and 0.0074 respectively), of which the R446W polymorphism appeared to be overrepresented in the anemic population. In addition, three children with iron refractory iron deficiency anemia, and one sibling with iron responsive iron deficiency anemia were also examined for polymorphisms or sporadic mutations in TMPRSS6. Two children (family 1) were compound heterozygotes for a L674F mutation and a previously described splicing defect predicted to cause skipping of exon 13 (IVS13+1 G>A). One child from the second family was homozygous for a deletion (497T) causing a frameshift (L166X+36) and premature termination. The sibling and mother from the second family were compound heterozygotes for the L166X mutation and the uncommon R446W polymorphism. Although in vitro expression studies demonstrated that the R446W isoform was biologically similar to wildtype Tmprss6, clinical data indicate that the R446W produces a milder disease when carried in trans with severe mutation in Tmprss6. The four children carrying mutations in TMPRSS6 all exhibited inappropriately high urinary hepcidin levels for the degree of iron deficiency.


Asunto(s)
Anemia Ferropénica/genética , Anemia Refractaria/genética , Proteínas de la Membrana/genética , Mutación , Polimorfismo Genético , Serina Endopeptidasas/genética , Anciano , Sustitución de Aminoácidos/genética , Péptidos Catiónicos Antimicrobianos/sangre , Péptidos Catiónicos Antimicrobianos/orina , Niño , Estudios de Cohortes , Análisis Mutacional de ADN , Femenino , Frecuencia de los Genes , Células Hep G2 , Hepcidinas , Humanos , Lactante , Masculino , Proteínas de la Membrana/metabolismo , Persona de Mediana Edad , Linaje , Serina Endopeptidasas/metabolismo , Población Blanca
11.
Science ; 245(4913): 57-60, 1989 Jul 07.
Artículo en Inglés | MEDLINE | ID: mdl-2544996

RESUMEN

Basic fibroblast growth factor (bFGF) participates in many processes including early developmental events, angiogenesis, wound healing, and maintenance of neuronal cell viability. A 130-kilodalton protein was isolated on the basis of its ability to specifically bind to bFGF. A complementary DNA clone was isolated with an oligonucleotide probe corresponding to determined amino acid sequences of tryptic peptide fragments of the purified protein. The putative bFGF receptor encoded by this complementary DNA is a transmembrane protein that contains three extracellular immunoglobulin-like domains, an unusual acidic region, and an intracellular tyrosine kinase domain. These domains are arranged in a pattern that is different from that of any growth factor receptor described.


Asunto(s)
Clonación Molecular , ADN/genética , Factores de Crecimiento de Fibroblastos/genética , Receptores de Superficie Celular/genética , Secuencia de Aminoácidos , Animales , Secuencia de Bases , Células Cultivadas , Embrión de Pollo , Cinética , Ratones , Datos de Secuencia Molecular , Fragmentos de Péptidos/análisis , Receptores de Superficie Celular/metabolismo , Receptores de Factores de Crecimiento de Fibroblastos , Proteínas Recombinantes/metabolismo
12.
Clin Genet ; 74(1): 88-92, 2008 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-18492090

RESUMEN

An African American male of West Indies descent was diagnosed to have elevated transferrin saturation, hyperferritinemia, severe iron deposition in hepatocytes, and hepatic cirrhosis at age 4. He was treated with serial phlebotomy to maintain a normal serum ferritin concentration thereafter. We evaluated him at age 23 and confirmed that he had normal serum ferritin levels, severe iron deposition in hepatocytes, hepatic cirrhosis, and portal hypertension. He did not have endocrinopathy, cardiomyopathy, or arthropathy. He was homozygous for the novel hemojuvelin (HJV) premature stop-codon mutation R54X (exon 3; c.160A-->T). He did not have either HFE C282Y, H63D, or S65C, or deleterious coding region mutations of SLC40A1, TFR2, or HAMP. His erythrocyte measures and hemoglobin electrophoresis were consistent with alpha-thalassemia trait. We conclude that homozygosity for HJV R54X accounts for his severe, early age-of-onset hemochromatosis; his phenotype was probably modified by serial phlebotomy therapy.


Asunto(s)
Hemocromatosis/genética , Sobrecarga de Hierro/genética , Proteínas de la Membrana/genética , Adulto , Negro o Afroamericano/genética , Edad de Inicio , Ferritinas/sangre , Proteínas Ligadas a GPI , Proteína de la Hemocromatosis , Humanos , Hipertensión Portal , Cirrosis Hepática , Masculino , Fenotipo , Flebotomía , Indias Occidentales/etnología
13.
J Clin Invest ; 100(8): 1907-18, 1997 Oct 15.
Artículo en Inglés | MEDLINE | ID: mdl-9329953

RESUMEN

The predominant genetic defect causing p47-phox-deficient chronic granulomatous disease (A47 degrees CGD) is a GT deletion (DeltaGT) at the beginning of exon 2. No explanation exists to account for the high incidence of this single mutation causing a rare disease in an unrelated, racially diverse population. In each of 34 consecutive unrelated normal individuals, both the normal and mutant DeltaGT sequences were present in genomic DNA, suggesting that a p47-phox related sequence carrying DeltaGT exists in the normal population. Screening of genomic bacteriophage and YAC libraries identified 13 p47-phox bacteriophage and 19 YAC clones. The GT deletion was found in 11 bacteriophage and 15 YAC clones. Only 5 exonic and 33 intronic differences distinguished all DeltaGT clones from all wild-type clones. The most striking differences were a 30-bp deletion in intron 1 and a 20-bp duplication in intron 2. These results provide good evidence for the existence of at least one highly homologous p47-phox pseudogene containing the DeltaGT mutation. The p47-phox gene and pseudogene(s) colocalize to chromosome 7q11.23. This close linkage, together with the presence within each gene of multiple recombination hot spots, suggests that the predominance of the DeltaGT mutation in A47 degrees CGD is caused by recombination events between the wild-type gene and the pseudogene(s).


Asunto(s)
Enfermedad Granulomatosa Crónica/genética , Mutación , Fosfoproteínas/genética , Seudogenes , Bacteriófagos/genética , Mapeo Cromosómico , Cromosomas Artificiales de Levadura/genética , Cromosomas Humanos Par 7 , Exones , Dosificación de Gen , Variación Genética , Biblioteca Genómica , Enfermedad Granulomatosa Crónica/etiología , Humanos , Intrones , NADPH Deshidrogenasa , NADPH Oxidasas , Neutrófilos/enzimología , Fosfoproteínas/deficiencia , Reacción en Cadena de la Polimerasa , Recombinación Genética , Secuencias Repetitivas de Ácidos Nucleicos , Análisis de Secuencia de ADN , Eliminación de Secuencia
14.
Mol Cell Biol ; 10(9): 4728-36, 1990 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-2167437

RESUMEN

We recently reported the isolation of a chicken cDNA clone encoding a basic fibroblast growth factor (FGF) receptor that has three immunoglobulinlike domains in the extracellular region. We have now identified four unique human cDNA clones encoding previously unknown FGF receptor variants which contain only two immunoglobulinlike domains. Two of the human clones encode membrane-spanning receptors, and two encode putative secreted forms. Both the three- and two-immunoglobulinlike-domain forms mediate biological responsiveness to acidic and basic FGF. Thus, the first immunoglobulinlike domain of the three-domain form may have a function other than binding of acidic and basic FGF.


Asunto(s)
ADN/genética , Factores de Crecimiento de Fibroblastos/metabolismo , Receptores de Superficie Celular/genética , Secuencia de Aminoácidos , Animales , Secuencia de Bases , Calcio/metabolismo , Línea Celular , Pollos , Factores de Crecimiento de Fibroblastos/farmacología , Genes , Humanos , Datos de Secuencia Molecular , Sondas de Oligonucleótidos , Oocitos/efectos de los fármacos , Oocitos/metabolismo , Reacción en Cadena de la Polimerasa , Receptores de Superficie Celular/metabolismo , Receptores de Factores de Crecimiento de Fibroblastos , Proteínas Recombinantes/metabolismo , Mapeo Restrictivo , Homología de Secuencia de Ácido Nucleico , Transcripción Genética , Xenopus
15.
Arch Oral Biol ; 52(6): 579-84, 2007 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-17125729

RESUMEN

Our previous studies demonstrated that mutations in type IX and type XI collagens in mice caused osteoarthritis (OA)-like changes in knee and temporomandibular (TM) joints. We also found that the overexpression of matrix metalloproteinase 13 (Mmp-13) was probably due to the up-regulation of a collagen receptor, discoidin domain receptor 2 (Ddr2), which was responsible for knee cartilage degeneration in mutant mice. The objective of our study was to determine whether the expression of Mmp-3, Mmp-13 and Ddr2 was increased in OA-like TM joints in mutant mice using immunohistochemistry. We found that the staining for Ddr2, Mmp-13 and Mmp-derived type II collagen fragments in tissue sections from 6-month-old mice was increased in TM joints of the mutant mice. In contrast, we found no difference in the staining for Mmp-3 amongst the two mutant mice and their wild-type littermates. We conclude that, similar to previous observations in knee joints, the overexpression of Ddr2 and Mmp-13 may be responsible for the OA-like change in TM joints in mutant mice.


Asunto(s)
Envejecimiento/patología , Cartílago Articular/patología , Colágeno Tipo IX/deficiencia , Colágeno Tipo XI/deficiencia , Metaloproteinasa 13 de la Matriz/análisis , Osteoartritis/patología , Proteínas Tirosina Quinasas Receptoras/análisis , Receptores Mitogénicos/análisis , Trastornos de la Articulación Temporomandibular/patología , Animales , Cartílago Articular/enzimología , Colágeno Tipo II/análisis , Colágeno Tipo IX/genética , Colágeno Tipo XI/genética , Receptores con Dominio Discoidina , Modelos Animales de Enfermedad , Genotipo , Heterocigoto , Inmunohistoquímica , Metaloproteinasa 3 de la Matriz/análisis , Ratones , Ratones Mutantes , Mutación/genética , Osteoartritis/enzimología , Osteocondrodisplasias/genética , Trastornos de la Articulación Temporomandibular/enzimología
16.
Physiol Res ; 66(3): 449-457, 2017 07 18.
Artículo en Inglés | MEDLINE | ID: mdl-28248541

RESUMEN

This study extends our previous work by examining the effects of alpha2-adrenoceptors under cold stimulation involving the increase of myogenic vascular oscillations as increases of very-low-frequency and low-frequency of the blood pressure variability. Forty-eight adult male Sprague-Dawley rats were randomly divided into four groups: vehicle; yohimbine; hexamethonium+yohimbine; guanethidine+yohimbine. Systolic blood pressure, heart rate, power spectral analysis of spontaneous blood pressure and heart rate variability and spectral coherence at very-low-frequency (0.02 to 0.2 Hz), low-frequency (0.2 to 0.6 Hz), and high-frequency (0.6 to 3.0 Hz) regions were monitored using telemetry. Key findings are as follows: 1) Cooling-induced pressor response was attenuated by yohimbine and further attenuated by hexamethonium+yohimbine and guanethidine+yohimbine, 2) Cooling-induced tachycardia response of yohimbine was attenuated by hexamethonium+yohimbine and guanethidine+yohimbine, 3) Different patterns of power spectrum reaction and coherence value compared hexamethonium+yohimbine and guanethidine+yohimbine to yohimbine alone under cold stimulation. The results suggest that sympathetic activation of the postsynaptic alpha2-adrenoceptors causes vasoconstriction and heightening myogenic vascular oscillations, in turn, may increase blood flow to prevent tissue damage under stressful cooling challenge.


Asunto(s)
Presión Sanguínea/fisiología , Frío/efectos adversos , Frecuencia Cardíaca/fisiología , Hemodinámica/fisiología , Receptores Adrenérgicos alfa 2/fisiología , Vasoconstricción/fisiología , Antagonistas de Receptores Adrenérgicos alfa 2/farmacología , Animales , Presión Sanguínea/efectos de los fármacos , Frecuencia Cardíaca/efectos de los fármacos , Hemodinámica/efectos de los fármacos , Masculino , Distribución Aleatoria , Ratas , Ratas Sprague-Dawley , Telemetría/métodos , Vasoconstricción/efectos de los fármacos , Yohimbina/farmacología
17.
Health Phys ; 91(2 Suppl): S32-4, 2006 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-16823269

RESUMEN

The Saltstone Facility was designed at the Savannah River Site (SRS) to treat and dispose of certain low-level liquid radioactive wastes. The final product of Saltstone is several large concrete vaults. As part of the performance assessment for Saltstone, reduction of dose to receptors downwind of the vaults have been estimated for treating the vaults as an area atmospheric source as opposed to a point source. The CAP88 model has the ability to handle area sources, but the methods are not appropriate for receptors close to the source such as those modeled at 100 m. Use of the area source as opposed to the point source can reduce the dose by as much as a factor of 5 depending on vault size. A method for quickly assessing the dose from an area source for near-in exposures is demonstrated here.


Asunto(s)
Contaminantes Radiactivos del Aire/análisis , Modelos Teóricos , Monitoreo de Radiación/métodos , Residuos Radiactivos/análisis , Residuos Radiactivos/prevención & control , Eliminación de Residuos , Medición de Riesgo/métodos , Movimientos del Aire , Simulación por Computador , Georgia , Dosis de Radiación , Factores de Riesgo , Ríos
18.
Oncogene ; 7(11): 2303-13, 1992 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-1437152

RESUMEN

Fibroblast growth factor receptor (FGFR-1) is expressed as a single 3.5-kb mRNA transcript in normal human melanocytes and in malignant melanomas as determined upon Northern hybridization to a cDNA clone encoding the membrane-spanning form of the human FGFR-1. Polyclonal antisera directed against the chicken FGFR recognized a 145-kDa protein in primary and metastatic melanomas. Antisense oligodeoxynucleotides targeted against the translation start site and a splice donor-acceptor site of human FGFR-1, in addition to inhibiting the proliferation of normal human melanocytes and malignant melanomas, caused extensive dendrite formation and severe disruption of cell-cell contact--morphological changes that were not observed upon inhibition of the genes encoding basic fibroblast growth factor (bFGF) and retinoic acid-alpha receptor. Thus, unlike in the case of the ligand bFGF, expression of the FGFR-1 may represent a requisite to prevent human melanocytes and malignant melanomas from undergoing (terminal) differentiation.


Asunto(s)
Melanocitos/citología , Melanoma/patología , Receptores de Factores de Crecimiento de Fibroblastos/genética , Secuencia de Bases , Comunicación Celular , Diferenciación Celular , División Celular , Expresión Génica , Humanos , Datos de Secuencia Molecular , Oligonucleótidos Antisentido/farmacología , ARN Mensajero/análisis , Receptores de Factores de Crecimiento de Fibroblastos/análisis
19.
AIDS ; 14(18): 2841-9, 2000 Dec 22.
Artículo en Inglés | MEDLINE | ID: mdl-11153665

RESUMEN

OBJECTIVE: To specify the type and severity of cellular damage in the central nervous system soon after infection and at later stages of disease in the SIV-macaque model of AIDS. DESIGN AND METHODS: Adjacent samples of frontal cortical gray matter were taken from three groups of macaques: uninfected controls (n = 4), acute (14 days post-infection; n = 4), and chronic (mean 2 years post-infection; n = 7). In vitro high resolution magnetic resonance spectroscopy of snap frozen intact tissue and quantitative neuropathology measurements of synaptophysin, calbindin, and glial fibrillary acidic protein (GFAP) in formalin-fixed tissue were performed. RESULTS: Losses in n-acetylaspartate and calbindin (indicating neuronal injury and/or death) and decreases in synaptophysin immunoreactivity (indicating synaptodendritic injury) were detected along with increases in GFAP (indicating reactive gliosis). Cellular injury worsened progressively with increased time after infection. CONCLUSIONS: These results are the first direct evidence that neuronal injury occurs soon after infection. The exacerbation of injury with time suggests a connection between the early response of the central nervous system and dementia, which occurs late in the course of infection. This connection may have broad implications for the study of and the development of therapies for damage of the central nervous system by HIV.


Asunto(s)
Complejo SIDA Demencia/patología , Encéfalo/patología , Modelos Animales de Enfermedad , Síndrome de Inmunodeficiencia Adquirida del Simio/patología , Complejo SIDA Demencia/fisiopatología , Síndrome de Inmunodeficiencia Adquirida/patología , Síndrome de Inmunodeficiencia Adquirida/fisiopatología , Animales , Encéfalo/metabolismo , VIH-1/patogenicidad , Humanos , Macaca mulatta , Espectroscopía de Resonancia Magnética , Proteínas del Tejido Nervioso/metabolismo , Síndrome de Inmunodeficiencia Adquirida del Simio/fisiopatología
20.
Atherosclerosis ; 154(1): 185-93, 2001 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-11137099

RESUMEN

B-mode ultrasound has gained popularity as a non-invasive method for direct visualization of superficial vessels. With B-mode ultrasound, arterial stiffness can be directly measured since image acquisition of the arterial wall thickness and vessel diameter can be obtained simultaneously in a dynamic fashion throughout the cardiac cycle. Recently, a method was developed to measure carotid arterial diameter and intima-media thickness (IMT) from B-mode images that utilizes computerized edge tracking-multiframe image processing that automatically measures arterial diameter and IMT in multiple sequential frames spanning several cardiac cycles. To evaluate this method, replicate B-mode common carotid artery ultrasound examinations and blood pressure measurements were obtained in 24 subjects 1-2 weeks apart. Approximately 80 sequential frames spanning two cardiac cycles were analyzed from each ultrasound examination to obtain maximum arterial diameter (D(max)), minimum arterial diameter (D(min)), and IMT using a computerized edge detection method. The intraclass correlations of D(max), D(min), and IMT were 0.97-0.99 and the mean absolute difference for these measurements were 0.03-0.11 mm. The coefficient of variation for D(max) and D(min) were 1.28 and 1.18%, respectively. The intraclass correlation for several standard arterial stiffness indices, Peterson's elastic modulus, Young's modulus, arterial distensibility, compliance, and the beta stiffness index ranged between 0.84 and 0.89. Additionally, it was determined that averaging IMT over five frames centered at D(min) reduced single frame IMT measurement variability by 27% (P=0.005) compared with IMT measured from a single frame corresponding to D(min). Comparison of the phasic relationship of D(max) and D(min) measured from the B-mode ultrasound image with the simultaneously recorded electrocardiogram (ECG) signal in the 24 subjects, provided a more accurate method of frame selection for arterial diameter extrema independent of the ECG signal. The method of computerized edge detection-sequential multiframe image processing presented in this paper represents a technological advance for image analysis of B-mode ultrasound images of common carotid arterial dimensions that is highly reproducible and directly applicable to noninvasive imaging of atherosclerosis.


Asunto(s)
Arterias Carótidas/diagnóstico por imagen , Arterias Carótidas/fisiopatología , Procesamiento de Imagen Asistido por Computador , Túnica Íntima/diagnóstico por imagen , Túnica Media/diagnóstico por imagen , Anciano , Elasticidad , Electrocardiografía , Femenino , Humanos , Masculino , Persona de Mediana Edad , Reproducibilidad de los Resultados , Ultrasonografía
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