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1.
Appl Physiol Nutr Metab ; 43(8): 854-856, 2018 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-29499122

RESUMEN

This study assessed the effect of changing daily movement behaviour on C-reactive protein (CRP) measured in saliva. Two groups of women either reduced daily movement or increased physical activity for 10 days. Salivary CRP increased by 31% in the sedentary group (0.378 ± 0.596 to 0.487 ± 0.793 µg·L-1) and decreased by 22% in the active group (0.414 ± 0.640 to 0.259 ± 0.284 µg·L-1). These results suggest short-term changes in daily movement behaviour can affect salivary CRP, a marker of systemic inflammation.


Asunto(s)
Proteína C-Reactiva/metabolismo , Ejercicio Físico , Mediadores de Inflamación/metabolismo , Saliva/metabolismo , Conducta Sedentaria , Adulto , Femenino , Voluntarios Sanos , Humanos , Persona de Mediana Edad , Factores Sexuales , Factores de Tiempo
2.
Transplant Proc ; 50(1): 222-225, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-29407313

RESUMEN

Sofosbuvir plus ledipasvir (SOF-LDV) combination therapy is a promising therapy for post-transplant hepatitis C virus (HCV) reinfection. It is known that gastric pH elevation induces lower absorption of ledipasvir; therefore, the use of proton pump inhibitors (PPIs) should be considered regarding dose reduction after SOF-LDV therapy induction. Here, we report two patients who developed duodenal ulcers due to the discontinuation of PPIs after the induction of SOF-LDV therapy for post-transplant HCV reinfection. The first patient was a 71-year-old man who had undergone living donor liver transplantation due to HCV-related liver cirrhosis. Lansoprazole, 30 mg daily, was discontinued upon SOF-LDV therapy induction. Seven days after SOF-LDV therapy induction, gastrointestinal endoscopy revealed the presence of a duodenal ulcer. The second patient was a 54-year-old man who had undergone living donor liver transplantation due to HCV-related end-stage liver disease. Similar to the first patient, rabeprazole sodium was discontinued upon the induction of SOF-LDV therapy. Eighteen days after SOF-LDV therapy induction, gastrointestinal endoscopy revealed the presence of a duodenal ulcer. In both cases, these duodenal ulcers improved after the resumption of the administration of PPIs, and a sustained virologic response at 12 weeks was achieved by SOF-LDV therapy with PPI use. Thus, PPI use should be continued consistently during SOF-LDV therapy for post-transplant HCV reinfection.


Asunto(s)
Úlcera Duodenal/etiología , Lansoprazol , Complicaciones Posoperatorias/etiología , Inhibidores de la Bomba de Protones , Privación de Tratamiento , Anciano , Antivirales/administración & dosificación , Bencimidazoles/administración & dosificación , Quimioterapia Combinada , Úlcera Duodenal/virología , Enfermedad Hepática en Estado Terminal/cirugía , Enfermedad Hepática en Estado Terminal/virología , Fluorenos/administración & dosificación , Hepatitis C Crónica/tratamiento farmacológico , Humanos , Cirrosis Hepática/tratamiento farmacológico , Cirrosis Hepática/virología , Trasplante de Hígado/efectos adversos , Masculino , Persona de Mediana Edad , Complicaciones Posoperatorias/virología , Sofosbuvir , Uridina Monofosfato/administración & dosificación , Uridina Monofosfato/análogos & derivados
3.
J Phys Act Health ; 14(5): 344-352, 2017 05.
Artículo en Inglés | MEDLINE | ID: mdl-28169574

RESUMEN

BACKGROUND: Providing freely accessible exercise facilities may increase physical activity at a population level. An increasingly popular strategy is outdoor fitness equipment in urban parks. Few studies have evaluated the effectiveness of this intervention in smaller cities. This study examined fitness equipment use, perceived effectiveness, and ways to increase use in a city of 100,000 people in 2015. METHODS: Two parks with fitness equipment and 4 without were directly observed. Interviews with 139 adults in active parks or living nearby were also conducted. RESULTS: Only 2.7% of adult park users used the fitness equipment over 100 hours of observation across 3 seasons. In contrast, 22.3% of adults interviewed reported monthly or more use of the equipment, highlighting the limitations of self-report methods. Adults interviewed perceived the equipment as potentially beneficial and suggested strategies to increase public use, including increased advertising, the introduction of programming to teach and encourage use, improved equipment quality, and improved maintenance of the equipment and surrounding area. CONCLUSIONS: In a low density city, park fitness equipment may not be an effective public health practice without additional efforts to market, introduce programming, and maintain these sites.


Asunto(s)
Ejercicio Físico/fisiología , Actividad Motora/fisiología , Instalaciones Públicas/estadística & datos numéricos , Salud Pública/métodos , Recreación , Equipo Deportivo/estadística & datos numéricos , Adolescente , Adulto , Canadá , Ciudades , Recolección de Datos , Planificación Ambiental , Femenino , Humanos , Masculino , Persona de Mediana Edad , Percepción , Salud Pública/instrumentación , Características de la Residencia , Adulto Joven
4.
Transplant Proc ; 49(1): 175-177, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28104130

RESUMEN

Hepatitis B virus (HBV) and hepatitis delta virus (HDV) co-infections progress rapidly and lead to cirrhosis. In Japan, the prevalence of HBV and HDV co-infected patients is low. Therefore, there are few reports of patients with HBV and HDV co-infection having undergone liver transplantation. Herein, we report a rare case of recurrence of HBV and HDV in a 41-year-old man who underwent living donor liver transplantation 4 years prior.


Asunto(s)
Antivirales/uso terapéutico , Guanina/análogos & derivados , Vacunas contra Hepatitis B/uso terapéutico , Hepatitis B Crónica/prevención & control , Hepatitis D Crónica , Inmunoglobulinas/uso terapéutico , Trasplante de Hígado , Complicaciones Posoperatorias/prevención & control , Adulto , Coinfección , Guanina/uso terapéutico , Antígenos de Superficie de la Hepatitis B/sangre , Virus de la Hepatitis B , Virus de la Hepatitis Delta , Humanos , Japón , Cirrosis Hepática/cirugía , Masculino , Prevalencia , ARN Viral/sangre , Recurrencia , Activación Viral
5.
Hernia ; 20(3): 479-82, 2016 06.
Artículo en Inglés | MEDLINE | ID: mdl-26552669

RESUMEN

PURPOSE: To compare the feasibilities and efficacies of the total extraperitoneal (TEP) technique and laparotomy for incarcerated obturator hernia repair. METHODS: All study subjects were diagnosed with incarcerated obturator hernia, preoperatively and TEP was performed as for TEP groin hernia repair. The incarcerated intestine was retracted into the peritoneal cavity with the hernia sac. The obturator foramen was then covered with a rectangular mesh (9 × 13 cm), which also covered the internal inguinal ring, Hesselbach's triangle, and the femoral ring. Non-ischemia of the incarcerated bowel was confirmed laparoscopically. In patients undergoing laparotomy, the obturator foramen was closed by continuous sutures, and no prosthesis was used. We recorded the length of hospital stay, operative time, amount of intraoperative bleeding, and postoperative complications. RESULTS: Twenty-two patients underwent obturator hernia repair in our hospital between January 2000 and December 2012, of whom 10 were treated with laparotomy and the remaining 12 via TEP. Three patients undergoing TEP were converted to laparotomy. The operation time was significantly longer in the conversion group compared with either the laparotomy or the TEP groups. There was no difference between the laparotomy and TEP groups regarding intraoperative bleeding. Patients who underwent TEP without conversion had a significantly shorter hospital stay than those who underwent laparotomy or required conversion. CONCLUSIONS: TEP provides a suitable approach for incarcerated obturator hernia repair, with favorable results regarding hospital stay. TEP is a feasible, minimally invasive technique for the repair of incarcerated obturator hernias.


Asunto(s)
Hernia Obturadora/cirugía , Herniorrafia/métodos , Anciano , Anciano de 80 o más Años , Estudios de Factibilidad , Femenino , Hernia Obturadora/complicaciones , Humanos , Obstrucción Intestinal/etiología , Obstrucción Intestinal/cirugía , Laparoscopía/métodos , Masculino , Resultado del Tratamiento
6.
J Sports Sci ; 34(13): 1207-14, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-26514645

RESUMEN

The purpose of this study was to determine the effectiveness of a 4-week running sprint interval training protocol to improve both aerobic and anaerobic fitness in middle-aged adults (40-50 years) as well as compare the adaptations to younger adults (20-30 years). Twenty-eight inactive participants - 14 young 20-30-year-olds (n = 7 males) and 14 middle-aged 40-50-year-olds (n = 5 males) - completed 4 weeks of running sprint interval training (4 to 6, 30-s "all-out" sprints on a curved, self-propelled treadmill separated by 4 min active recovery performed 3 times per week). Before and after training, all participants were assessed for maximal oxygen consumption (VO2max), 2000 m time trial performance, and anaerobic performance on a single 30-s sprint. There were no interactions between group and time for any tested variable, although training improved relative VO2max (young = 3.9, middle-aged = 5.2%; P < 0.04), time trial performance (young = 5.9, middle-aged = 8.2%; P < 0.001), peak sprint speed (young = 9.3, middle-aged = 2.2%; P < 0.001), and average sprint speed (young = 6.8, middle-aged = 11.6%; P < 0.001) in both young and middle-aged groups from pre- to post-training on the 30-s sprint test. The current study demonstrates that a 4-week running sprint interval training programme is equally effective at improving aerobic and anaerobic fitness in younger and middle-aged adults.


Asunto(s)
Entrenamiento de Intervalos de Alta Intensidad , Carrera/fisiología , Adaptación Fisiológica , Adulto , Capacidad Cardiovascular , Prueba de Esfuerzo , Femenino , Humanos , Masculino , Persona de Mediana Edad , Consumo de Oxígeno , Adulto Joven
7.
Transplant Proc ; 47(10): 2916-9, 2015 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-26707313

RESUMEN

INTRODUCTION: Recently, several studies have shown that specific single nucleotide polymorphisms (SNPs) affect liver fibrosis progression in patients with hepatitis C virus (HCV) infection. In this study, we examined the impact of donor and recipient SNPs on the progression of fibrosis after liver transplantation for HCV infection. METHODS: This cohort study enrolled 43 patients with HCV infection who underwent liver transplantation at our hospital. We evaluated 5 genotypes (rs4374383, rs2629751, rs9380516, rs8099917, and rs738409) that have been reported to be significant predictors of fibrosis in HCV infection using a Taqman assay. RESULTS: Liver fibrosis (stage ≥ F1, New Inuyama classification) was detected at 1 year after liver transplantation in 30 cases (70%). The rs2629751 non-AA-genotype was found to be significantly associated with fibrosis progression at 1 year after liver transplantation (AA:GG or GA = 46%:88%, P < .05). The primary outcome was stage ≥F2 (portoportal septa) or liver-related mortality in 22 patients. The time to stage ≥F2 fibrosis or liver-related mortality was significantly different only in terms of the donor rs2629751 genotype (AA:GG or GA = 5.5 ± 0.6 years:3.6 ± 0.7 years, P = .025). CONCLUSIONS: The rs2629751 genotype may be an important predictor of posttransplant outcome in HCV-infected patients. This result might be useful in donor selection for liver transplantation in HCV-infected patients and may guide therapeutic decisions regarding early antiviral treatment.


Asunto(s)
Hepacivirus , Hepatitis C/genética , Lipasa/genética , Cirrosis Hepática/genética , Trasplante de Hígado/mortalidad , Donadores Vivos , Proteínas de la Membrana/genética , Polimorfismo de Nucleótido Simple , Estudios de Cohortes , Progresión de la Enfermedad , Femenino , Genotipo , Hepatitis C/cirugía , Humanos , Cirrosis Hepática/cirugía , Trasplante de Hígado/métodos , Masculino , Persona de Mediana Edad , Selección de Paciente
8.
Eur J Surg Oncol ; 41(2): 257-64, 2015 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-25447030

RESUMEN

BACKGROUND: To improve the diagnostic accuracy for hepatic tumors on the liver surface, we investigated the usefulness of an indocyanine green-photodynamic eye (ICG-PDE) system by comparison with Sonazoid intraoperative ultrasonography (IOUS) in 117 patients. Hepatic segmentation by ICG-PDE was also evaluated. METHODS: ICG was administered preoperatively for functional testing and images of the tumor were observed during hepatectomy using a PDE camera. ICG was injected into portal veins to determine hepatic segmentation. RESULTS: Accurate diagnosis of liver tumors was achieved with ICG-PDE in 75% of patients, lower than with IOUS (94%). False-positive and false-negative diagnosis rates for ICG-PDE were 24% and 9%, respectively. New small HCCs were detected in 3 patients. The ICG fluorescent pattern in tumors was strong staining in 41%, weak staining in 13%, rim staining in 20% and no staining in 26%. Hepatocellular carcinoma predominantly showed strong staining (61%), while rim staining predominated in cholangiocellular carcinoma (60%) and liver metastasis (55%). Hepatic segmental staining was performed in 28 patients, proving successful in 89%. CONCLUSION: ICG-PDE is a useful tool for detecting the precise tumor location at the liver surface, identifying new small tumors, and determining liver segmentation for liver resection.


Asunto(s)
Neoplasias de los Conductos Biliares/diagnóstico , Conductos Biliares Intrahepáticos , Carcinoma Hepatocelular/diagnóstico , Colangiocarcinoma/diagnóstico , Neoplasias Colorrectales/patología , Colorantes Fluorescentes , Neoplasias de la Vesícula Biliar/patología , Verde de Indocianina , Neoplasias Hepáticas/diagnóstico , Tumores Neuroendocrinos/patología , Adulto , Anciano , Anciano de 80 o más Años , Neoplasias de los Conductos Biliares/patología , Neoplasias de los Conductos Biliares/cirugía , Carcinoma Hepatocelular/cirugía , Colangiocarcinoma/secundario , Colangiocarcinoma/cirugía , Medios de Contraste , Reacciones Falso Negativas , Reacciones Falso Positivas , Estudios de Factibilidad , Femenino , Compuestos Férricos , Hepatectomía/métodos , Humanos , Cuidados Intraoperatorios , Hierro , Neoplasias Hepáticas/secundario , Neoplasias Hepáticas/cirugía , Masculino , Persona de Mediana Edad , Óxidos , Ultrasonografía
9.
Transplant Proc ; 46(10): 3515-22, 2014 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-25498083

RESUMEN

BACKGROUND: Following improvements in patient and graft survival after liver transplantation (LT), the recipients' quality of life has become an important focus of patient care. Sleep is closely related to physical and mental health; however, sleep disturbances in LT patients have not yet been evaluated. METHODS: We assessed 59 LT patients (aged ≥18 years) between September 2011 and September 2012. The patients completed the restless legs syndrome (RLS), 36-item short-form health survey (SF-36), Pittsburgh Sleep Quality Index (PSQI), and Epworth Sleepiness Scale (ESS) questionnaires. In addition, laboratory data were obtained and neuropsychological tests (NPT) were performed during study entry. RESULTS: Thirty-eight patients (64%) were included in the poor sleep group (PSQI ≥6 or ESS ≥10). The SF-36 scores were lower in the poor sleep group than in the good sleep group. Eleven patients (18%) had RLS. An NPT score ≥3 indicated minimal hepatic encephalopathy (MHE3). The MHE3 group consisted of 22 patients (43%). The time after LT was shorter; serum albumin, branched chain amino acid/tyrosine molar ratio (BTR), and role limitations due to poor physical health were lower; and serum ammonia levels were higher in the MHE3 group than in the MHE0-2 group. When the poor sleep group was divided into subgroups (control, MHE, RLS, and unknown), MHE patients had high model for end-stage liver disease scores, high ammonia levels, and low BTR, whereas RLS patients showed a short time after LT. CONCLUSION: Sixty-four percent of recipients were classified as poor sleepers. SF-36 scores were lower for poor sleepers than good sleepers. RLS and MHE are major diseases that cause sleep disturbances in patients after LT.


Asunto(s)
Trasplante de Hígado/efectos adversos , Donadores Vivos/psicología , Calidad de Vida , Trastornos del Sueño-Vigilia/epidemiología , Sueño/fisiología , Femenino , Humanos , Incidencia , Japón/epidemiología , Masculino , Persona de Mediana Edad , Pruebas Neuropsicológicas , Índice de Severidad de la Enfermedad , Trastornos del Sueño-Vigilia/etiología , Trastornos del Sueño-Vigilia/psicología
11.
Invest Ophthalmol Vis Sci ; 50(5): 2024-32, 2009 May.
Artículo en Inglés | MEDLINE | ID: mdl-19151385

RESUMEN

PURPOSE: Genomewide linkage scans were performed in Caucasian (CAUC) and Old Order Amish (OOA) families to identify genomic regions containing genes responsible for refractive error control. We also performed a meta-analysis by combining these results with our previous linkage results from Ashkenazi Jewish (ASHK) and African American (AFRAM) families. METHODS: Two hundred seventy-one CAUC and 411 OOA participants (36 and 61 families, respectively) were recruited to participate in the Myopia Family Study. Recruitment criteria were designed to enrich the sample for multiplex myopic families. Genomewide, model-free, multipoint linkage analyses were performed separately for each population by using >370 microsatellite markers. Empirical significance levels were determined via gene-dropping simulations. A meta-analysis was performed by combining linkage results from the CAUC, OOA, AFRAM, and ASHK samples, and results were compared to previously reported loci for myopia and refraction. RESULTS: Suggestive evidence of linkage was found at 12q24 (LOD = 4.583, P = 0.00037) and 4q21 (LOD = 2.72, P = 0.0028) in the CAUC sample and at 5qter (LOD = 3.271, P = 0.0014) in the OOA. Meta-analysis linkage results were largely driven by population-specific signals from ASHK and AFRAM families. The meta-analysis showed suggestive evidence of linkage to 4q21-22 (meta-P = 0.00214) adjacent to the previously reported MYP9 and MYP11 loci. CONCLUSIONS: The results showed suggestive evidence of linkage of ocular refraction to 12q24 and 4q21 in CAUC and to 5qter in OOA families. The meta-analysis supports the view that several genes play a role in refractive development across populations. In MFS families, four broad genomic regions (on 1p, 4q, 7p, and 12q) most likely contain genes that influence ocular refraction.


Asunto(s)
Mapeo Cromosómico , Cromosomas Humanos Par 12/genética , Cromosomas Humanos Par 4/genética , Ligamiento Genético , Miopía/genética , Refracción Ocular/genética , Adulto , Población Negra/genética , Femenino , Genoma Humano , Genotipo , Humanos , Judíos/genética , Escala de Lod , Masculino , Sitios de Carácter Cuantitativo , Población Blanca/genética
12.
Am J Ophthalmol ; 147(3): 512-517.e2, 2009 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-19026404

RESUMEN

PURPOSE: To identify myopia susceptibility genes influencing common myopia in 94 African-American and 36 White families. DESIGN: A prospective study of families with myopia consisting of a minimum of two individuals affected with myopia. METHODS: Extended families consisting of at least two siblings affected with myopia were ascertained. A genome-wide linkage scan using 387 markers was conducted by the Center for Inherited Disease Research. Linkage analyses were conducted with parametric and nonparametric methods. Model-free linkage analysis was performed maximizing over penetrance and over dominance (that is, fitting a wide range of both dominant and recessive models). RESULTS: Under the model-free analysis, the maximum two point heterogeneity logarithm of the odds score (MALOD) was 2.87 at D6S1009 in the White cohort and the maximum multipoint MALOD was 2.42 at D12S373-D12S1042 in the same cohort. The nonparametric linkage (NPL) maximum multipoint at D6S1035 had a P value of .005. An overall multipoint NPL score was obtained by combining NPL scores from both populations. The highest combined NPL score was observed at D20S478 with a significant P value of .008. Suggestive evidence of linkage in the White cohort mapped to a previously mapped locus on chromosome 11 at D11S1981 (NPL = 2.14; P = .02). CONCLUSIONS: Suggestive evidence of linkage to myopia in both African Americans and Whites was seen on chromosome 20 and became more significant when the scores were combined for both groups. The locus on chromosome 11 independently confirms a report by Hammond and associates mapping a myopia quantitative trait locus to this region.


Asunto(s)
Negro o Afroamericano/genética , Ligamiento Genético , Predisposición Genética a la Enfermedad , Genoma Humano , Miopía/genética , Población Blanca/genética , Adulto , Cromosomas Humanos Par 20/genética , Femenino , Humanos , Masculino , Reacción en Cadena de la Polimerasa , Estudios Prospectivos , Sitios de Carácter Cuantitativo
13.
BMC Genomics ; 9: 516, 2008 Oct 31.
Artículo en Inglés | MEDLINE | ID: mdl-18976480

RESUMEN

BACKGROUND: By assaying hundreds of thousands of single nucleotide polymorphisms, genome wide association studies (GWAS) allow for a powerful, unbiased review of the entire genome to localize common genetic variants that influence health and disease. Although it is widely recognized that some correction for multiple testing is necessary, in order to control the family-wide Type 1 Error in genetic association studies, it is not clear which method to utilize. One simple approach is to perform a Bonferroni correction using all n single nucleotide polymorphisms (SNPs) across the genome; however this approach is highly conservative and would "overcorrect" for SNPs that are not truly independent. Many SNPs fall within regions of strong linkage disequilibrium (LD) ("blocks") and should not be considered "independent". RESULTS: We proposed to approximate the number of "independent" SNPs by counting 1 SNP per LD block, plus all SNPs outside of blocks (interblock SNPs). We examined the effective number of independent SNPs for Genome Wide Association Study (GWAS) panels. In the CEPH Utah (CEU) population, by considering the interdependence of SNPs, we could reduce the total number of effective tests within the Affymetrix and Illumina SNP panels from 500,000 and 317,000 to 67,000 and 82,000 "independent" SNPs, respectively. For the Affymetrix 500 K and Illumina 317 K GWAS SNP panels we recommend using 10(-5), 10(-7) and 10(-8) and for the Phase II HapMap CEPH Utah and Yoruba populations we recommend using 10(-6), 10(-7) and 10(-9) as "suggestive", "significant" and "highly significant" p-value thresholds to properly control the family-wide Type 1 error. CONCLUSION: By approximating the effective number of independent SNPs across the genome we are able to 'correct' for a more accurate number of tests and therefore develop 'LD adjusted' Bonferroni corrected p-value thresholds that account for the interdepdendence of SNPs on well-utilized commercially available SNP "chips". These thresholds will serve as guides to researchers trying to decide which regions of the genome should be studied further.


Asunto(s)
Genoma Humano , Estudio de Asociación del Genoma Completo/normas , Polimorfismo de Nucleótido Simple , Algoritmos , Humanos , Desequilibrio de Ligamiento
14.
Mol Vis ; 12: 1499-505, 2006 Dec 04.
Artículo en Inglés | MEDLINE | ID: mdl-17167407

RESUMEN

PURPOSE: A genome-wide scan was previously reported for myopia in Ashkenazi Jews. In order to confirm the previous linkage peaks, a collection of DNA samples from 19 new Ashkenazi Jewish families were tested for linkage in a genome wide scan. METHODS: Families were ascertained from an Orthodox Ashkenazi Jewish community through mailings. Myopia was defined as equal to or greater than -1 diopter in both meridians in both eyes. The genome wide scan used markers from a modified Cooperative Human Linkage Center version 9 (402 markers). Parametric two-point linkage was calculated with FASTLINK while multipoint linkage was calculated with GENEHUNTER. RESULTS: The results for the 19 families demonstrated several regions of suggestive linkage on chromosomes 7, 1, 17, and 22. A combined analysis of the 19 families and 44 previously reported families demonstrated an increase in the LOD score to 4.73 for the chromosome 22 locus. CONCLUSIONS: Multiple chromosomal regions have exhibited some evidence of linkage to a myopia susceptibility gene in this Ashkenazi Jewish population. The strongest evidence of linkage to such a susceptibility gene in these data is on chromosome 22.


Asunto(s)
Mapeo Cromosómico , Cromosomas Humanos Par 22 , Ligamiento Genético , Predisposición Genética a la Enfermedad , Genoma Humano , Judíos/genética , Miopía/genética , Adolescente , Adulto , Niño , Cromosomas Humanos Par 1 , Cromosomas Humanos Par 17 , Cromosomas Humanos Par 7 , Femenino , Humanos , Escala de Lod , Masculino , Persona de Mediana Edad
15.
Scand J Rheumatol ; 35(1): 69-71, 2006.
Artículo en Inglés | MEDLINE | ID: mdl-16467047

RESUMEN

A 52-year-old male was admitted with autoimmune pancreatitis (AIP), showing mononuclear cell infiltration in both the pancreas and salivary glands with both normal sialography and anti-SS-A/SS-B antibodies. Although the AIP improved with glucocorticoid treatment, subsequent abdominal computed tomography (CT) revealed a nodular shadow in the bilateral kidneys, which was confirmed as interstitial nephritis by renal biopsy. The patient's serum immunoglobulin G4 (IgG4) level was 10 times higher than the upper limit of the normal range. IgG4-positive mononuclear cell infiltration was detected in the salivary gland, pancreas, and kidney. A new entity proposed as 'IgG4-related autoimmune disease' was considered.


Asunto(s)
Enfermedades Autoinmunes/inmunología , Inmunoglobulina G/sangre , Insuficiencia Multiorgánica/inmunología , Enfermedades Autoinmunes/sangre , Enfermedades Autoinmunes/diagnóstico , Humanos , Inmunoglobulina G/análisis , Riñón/inmunología , Masculino , Persona de Mediana Edad , Insuficiencia Multiorgánica/sangre , Páncreas/inmunología , Pancreatitis/sangre , Pancreatitis/inmunología , Valores de Referencia , Glándulas Salivales/inmunología
16.
Am J Med Genet A ; 123A(2): 140-7, 2003 Dec 01.
Artículo en Inglés | MEDLINE | ID: mdl-14598337

RESUMEN

Non-syndromic cleft lip with/without cleft palate (CL/P) is a common, usually non-fatal birth defect of complex etiology. Several segregation analyses have demonstrated that genetic factors are important in the pathogenesis of CL/P, most likely through the interaction of several genes of modest effects. The aim of this study was to perform a genome-wide linkage analysis to identify/search for candidate gene loci for CL/P. We conducted a genome-wide search in two large, relatively isolated Syrian families, each one with a large number of cases with CL/P (18 in family 1 and 4 in family 2). A locus with a multipoint LOD score of 2.80 and a 2-point non-parametric MLS LOD of 3.0 was detected on 17p13.1. Other chromosomal regions with multipoint LOD scores > or = 1.2 (P < or = 0.01) included 3p21.2, 4q32.1, and 7q34. These data indicate the possible presence of several susceptibility loci for CL/P and identify a strong candidate locus for this common birth defect on chromosome 17p13.


Asunto(s)
Cromosomas Humanos Par 17/genética , Labio Leporino/genética , Fisura del Paladar/genética , Predisposición Genética a la Enfermedad , Herencia Multifactorial/genética , Mapeo Cromosómico , Genotipo , Humanos , Funciones de Verosimilitud , Escala de Lod , Siria , Secuencias Repetidas en Tándem
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