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1.
J Indian Soc Periodontol ; 28(1): 129-131, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38988962

RESUMEN

Second molars are more susceptible to periodontitis when present adjacent to periodontally hopeless third molars. It is crucial to restore the health of the second molar and to prevent a dry socket after third molar extraction. To ensure complete eradication of infection along with regeneration, mere nonsurgical periodontal therapy might be inadequate. Thus, in this case report, high-level laser therapy (HLLT), advanced-platelet-rich fibrin (A-PRF), and low-level laser therapy (photobiomodulation [PBM]) were adapted to obtain a synergistic effect. HLLT was accomplished for decontamination and clot stabilization following the third molar extraction. Further, A-PRF was placed and irradiated with PBM on 3rd, 7th, 15th, and 21st days, postoperatively. There was reduced clinical probing depth and gain in clinical attachment level with a significant radiographic bone fill distal to second molar at 3 months follow-up. This combined use of HLLT, and PBM along with PRF could be a reliable treatment approach for regeneration, particularly in acute infections.

2.
Appl Radiat Isot ; 200: 110944, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-37499461

RESUMEN

CR-39 SSNTD is used to measure the photoneutron spectrum produced by a medical linear accelerator in an intense γ-ray background. The spectroscopic resolution and the neutron detection threshold have been improved by introducing the event selection criteria, based on the track diameter-brightness correlation. The CR-39 detector's efficiency is determined by adapting the 1H(n,el) cross section from the ENDF/B-VIII.0 evaluations. The measured spectrum was reproduced through Talys-1.96 calculations by implementing the Gogny-HFB microscopic level density model.

3.
Antonie Van Leeuwenhoek ; 116(1): 53-65, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-36450879

RESUMEN

The gut microbiota and its impact on health and nutrition in animals, including cattle has been of intense interest in recent times. Cattle, in particular indigenous varieties like Kasaragod Dwarf cow, have not received the due consideration given to other non-native cattle breeds, and the composition of their fecal microbiome is yet to be established. This study applied 16S rRNA high-throughput sequencing of fecal samples and compared the Kasaragod Dwarf with the highly prevalent Holstein crossbred cattle. Variation in their microbial composition was confirmed by marker gene-based taxonomic analysis. Principle Coordinate Analysis (PCoA) showed the distinct microbial architecture of the two cattle types. While the two cattle types possess unique signature taxa, in Kasaragod Dwarf cattle, many of the identified genera, including Anaerovibrio, Succinivibrio, Roseburia, Coprococcus, Paludibacter, Sutterella, Coprobacillus, and Ruminobacter, have previously been shown to be present in higher abundance in animals with higher feed efficiency. This is the first report of Kasaragod Dwarf cattle fecal microbiome profiling. Our findings highlight the predominance of specific taxa potentially associated with different fermentation products and feed efficiency phenotypes in Kasaragod Dwarf cattle compared to Holstein crossbred cattle.


Asunto(s)
Microbioma Gastrointestinal , Microbiota , Femenino , Animales , Bovinos , ARN Ribosómico 16S/genética , Heces , Microbioma Gastrointestinal/genética , Alcaligenes/genética
4.
Indian J Dermatol Venereol Leprol ; 87(5): 682-683, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34379943
5.
Am J Case Rep ; 19: 1004-1009, 2018 Aug 24.
Artículo en Inglés | MEDLINE | ID: mdl-30139931

RESUMEN

BACKGROUND In 2017, in New York City (NYC), 86% of the cases of tuberculosis (TB) occurred in patients who were born outside the United States (US). This case report illustrates the importance of the use of the tuberculin skin test (TST), and other tests for TB infection (TTBI), in screening high-risk groups, the challenges of diagnosing TB in young children, and highlights the importance of preventing a delay in the diagnosis of TB in family members. CASE REPORT Following a routine TST in an asymptomatic 10-year-old girl, a diagnosis of TB was made, which was confirmed on chest X-ray (CXR) and by the presence of acid-fast bacilli (AFB) in the sputum. Her family had emigrated from China to NYC ten years previously. All the family was screened using the TST, which was positive in her 2-year-old sister and her 37-year-old pregnant mother, and pulmonary TB was confirmed on CXR and by AFBs in the sputum. All three family members and the newborn baby were treated according to current guidelines, with a good clinical outcome. CONCLUSIONS This case report raises awareness about the lack of symptoms in childhood TB and the importance of screening high-risk patients in an urban immigrant population. In children under 5 years of age, a diagnosis of TB can indicate a sentinel event, suggesting a potential undiagnosed or untreated source case, which is usually an adult family member. This report highlights the challenges of diagnosing TB in children, who may be asymptomatic with negative laboratory findings.


Asunto(s)
Prueba de Tuberculina , Tuberculosis/diagnóstico , Adulto , Infecciones Asintomáticas , Niño , Preescolar , China/etnología , Femenino , Humanos , Recién Nacido , Tamizaje Masivo , Madres , Ciudad de Nueva York , Embarazo , Radiografía Torácica , Hermanos , Esputo/microbiología , Tuberculosis/diagnóstico por imagen , Tuberculosis/microbiología , Tuberculosis/terapia , Población Urbana
6.
Ophthalmology ; 124(9): 1377-1382, 2017 09.
Artículo en Inglés | MEDLINE | ID: mdl-28461017

RESUMEN

PURPOSE: Transvitreal and transscleral needle biopsy can result in complications including vitreous hemorrhage and retinal detachment. This study evaluated a technique using 25-gauge vitrectomy as an adjunct to needle biopsy immediately before brachytherapy to minimize these complications and preserve good visual acuity. DESIGN: Retrospective, observational case series. PARTICIPANTS: Fifty-seven consecutive eyes of 57 patients with treatment-naïve medium choroidal melanomas without extraocular extension from July 2012 through September 2015. METHODS: Fifty-seven consecutive eyes of 57 patients with a clinically diagnosed choroidal melanoma underwent complete 25-gauge posterior vitrectomy followed by transvitrector port fine-needle aspiration biopsy of the tumor immediately before implantation of a radioactive iodine 125 plaque as treatment for the tumor. Cytopathologic analysis was not performed on the tumor aspirates in this study. MAIN OUTCOME MEASURES: Best-corrected postoperative visual acuity, postoperative complications of the reported technique, implantation tumor development, local tumor recurrence, presence of metastatic disease after surgery, and sufficiency of the tumor aspirates obtained by the reported technique for successful gene expression profile testing and prognostic classification. RESULTS: Mean preoperative and postoperative visual acuities were similar (20/60 vs. 20/80, respectively). Mean tumor thickness was 5.0 mm (range, 2.5-10 mm) and mean tumor basal diameter was 13.1 mm (range, 7-22 mm). Only 1 of 57 eyes (1.8%) showed a transient vitreous hemorrhage, biopsy yield was 100% for genetic analysis, and no patients showed recurrence or implantation tumor at the vitrector site. CONCLUSIONS: Combined 25-gauge posterior vitrectomy and 25-gauge trans-vitrector port needle aspiration biopsy immediately before brachytherapy is excellent for obtaining tumor aspirate for gene expression profiling while controlling for hemostasis, resulting in few complications.


Asunto(s)
Biomarcadores de Tumor/genética , Braquiterapia , Neoplasias de la Coroides/diagnóstico , Perfilación de la Expresión Génica , Melanoma/diagnóstico , Proteínas de Neoplasias/genética , Vitrectomía/métodos , Adulto , Anciano , Biopsia con Aguja Fina/métodos , Neoplasias de la Coroides/genética , Neoplasias de la Coroides/radioterapia , Neoplasias de la Coroides/cirugía , Femenino , Genes Relacionados con las Neoplasias/genética , Humanos , Hibridación Fluorescente in Situ , Radioisótopos de Yodo/uso terapéutico , Masculino , Melanoma/genética , Melanoma/radioterapia , Melanoma/cirugía , Análisis por Micromatrices , Persona de Mediana Edad , Estudios Retrospectivos , Agudeza Visual
7.
Ophthalmol Retina ; 1(6): 555-558, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-31047451

RESUMEN

PURPOSE: To evaluate the outcomes of choroidal melanoma 25-gauge vitrectomy needle biopsy and iodine 125 (125I) brachytherapy performed by supervised fellows compared with experienced faculty. DESIGN: Retrospective, observational case series. PARTICIPANTS: Sixty-three consecutive eyes of 63 patients with treatment-naïve medium choroidal melanomas without extraocular extension. METHODS: Sixty-three consecutive eyes of 63 patients undergoing simultaneous 125I brachytherapy and 25-gauge vitrectomy melanoma biopsy for choroidal melanoma. One attending surgeon performed 31 surgeries and 2 fellows performed 32 surgeries. All cases treated by fellows were under direct supervision of the attending physician. MAIN OUTCOME MEASURES: Percentage of adequate biopsy sample, tumor regression, and postoperative complications. RESULTS: There were no baseline differences between the groups. The biopsy yield for gene expression profile and the melanoma regression rate were equal in both groups (63/63 [100%]; P = 1.0). Complications occurred in 1 of 31 faculty surgery patients (transient vitreous hemorrhage) and in 0 of 32 fellow surgery patients (P = 1.0). CONCLUSIONS: With proper supervision, fellows can achieve equally high biopsy yield and melanoma regression rate with few complications compared with experienced faculty.

8.
Clin Linguist Phon ; 31(4): 313-329, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-27936963

RESUMEN

The present study investigated the effect of certain unique morphophonemic features of Kannada words on the rate of stutters in a group of 22 adolescent and adult persons who stuttered in an oral reading task. A linear regression analysis showed that word length ranging from 1 to 8 syllables was a potent variable in the occurrence of stutters accounting for 25.3% of stutters. A composite index of morphophonemic complexity with points assigned for sandhi, geminates, consonant clusters, and number of morphemes accounted for a small 7.5% variability in observed stutter rates. Sandhi words and the hybrid content-function words were no more effective than other words in determining stutter rates. Results are discussed in relation to past findings for other languages and current neurolinguistic models of speech production.


Asunto(s)
Lenguaje , Lectura , Medición de la Producción del Habla , Tartamudeo/fisiopatología , Humanos , Masculino , Multilingüismo , Adulto Joven
9.
Indian J Dent Res ; 26(3): 276-9, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26275195

RESUMEN

AIM: The aim of the study was to compare the fracture resistance of roots obturated with mineral trioxide aggregate (MTA) obturation with post, MTA apical plug with Resilon obturation, MTA apical plug with gutta percha (GP) obturation, complete MTA obturation in teeth with wide open apex. MATERIALS AND METHODS: Fifty freshly extracted human maxillary central incisors were selected. Teeth were divided into four experimental groups (n = 10) and one control group (n = 10). Fifty teeth were separated, and roots of each tooth were standardized to a length of 12 mm. Access opening was done and instrumented with ProTaper F2 passed beyond the apex. The canals were then irrigated with 17% ethylenediaminetetraacetic acid and 3% sodium hypochlorite. Calcium hydroxide was placed in the canals for 7 days. The specimens were then divided into five groups. Group I: Apical plug MTA with metal post, Group II: Apical plug MTA with Resilon, Group III Apical plug MTA with GP, Group IV: Complete MTA obturation, and Group V: Control group. Fracture strength was measured using Instron testing machine at a speed of 5 mm/min, and the data were statistically analyzed using ANOVA and t-test. RESULTS: The roots reinforced with metallic post and MTA (Group 1) has the higher fracture strength when compared with other groups (P < 0.05). CONCLUSION: This Ferro-concrete reinforcement technique of MTA with the metallic post can be used in cases with wide open apex to increase the fracture resistance of tooth.


Asunto(s)
Endodoncia , Ápice del Diente/crecimiento & desarrollo , Compuestos de Aluminio , Compuestos de Calcio , Combinación de Medicamentos , Humanos , Óxidos , Materiales de Obturación del Conducto Radicular , Obturación del Conducto Radicular/métodos , Silicatos , Fracturas de los Dientes
10.
Int J Audiol ; 53(2): 94-100, 2014 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-24237041

RESUMEN

OBJECTIVE: The present study assesses the effect of companding on speech perception in quiet and noise for listeners with auditory neuropathy spectrum disorder (ANSD). DESIGN: Speech perception was assessed using speech reception threshold in noise (SRTn) for sentences and consonant identification in quiet and at different signal-to-noise ratios (15, 10, 5, and 0 dB SNR). STUDY SAMPLE: Ten ANSD listeners and normal-hearing listeners participated in the study. RESULTS: ANSD listeners required significantly higher SRTn when compared to the normal-hearing listeners. Companding reduced SRTn more significantly in listeners with ANSD, but for normal-hearing listeners there was only a marginal reduction. In the consonant identification task, ANSD listeners performed poorer than normal-hearing listeners in quiet and noise. Companding improved consonant identification in quiet and at 15 dB SNR for listeners with ANSD, whereas no improvement was observed in normal-hearing listeners. CONCLUSION: Results of the present study demonstrate that companding improved speech perception in quiet and noise for ANSD listeners. The amount of improvement is higher at higher SNRs. In normal-hearing listeners, companding showed marginal improvement in both quiet and noise. The findings are discussed for rehabilitation of ANSD listeners by hearing aids which incorporate the companding strategy.


Asunto(s)
Corrección de Deficiencia Auditiva/métodos , Pérdida Auditiva Central/rehabilitación , Ruido/efectos adversos , Enmascaramiento Perceptual , Personas con Deficiencia Auditiva/rehabilitación , Reconocimiento en Psicología , Percepción del Habla , Estimulación Acústica , Adolescente , Adulto , Umbral Auditivo , Estudios de Casos y Controles , Femenino , Pérdida Auditiva Central/diagnóstico , Pérdida Auditiva Central/psicología , Humanos , Masculino , Personas con Deficiencia Auditiva/psicología , Valor Predictivo de las Pruebas , Psicoacústica , Acústica del Lenguaje , Inteligibilidad del Habla , Prueba del Umbral de Recepción del Habla , Factores de Tiempo , Adulto Joven
11.
Percept Mot Skills ; 117(1): 1235-42, 2013 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-24422348

RESUMEN

When persons who stutter (PWS) read a text repeatedly, there is a progressive reduction in stutter frequency over the course of three to five readings. Recently, this phenomenon has been attributed by some researchers to motor learning-the acquisition of relatively permanent motor skills that facilitate fluency through practice in producing words. The current study tested this explanation. 23 PWS read prose passages five times in succession. The number of 'new' and 'old' stutters during repeated readings (words stuttered in the current reading but spoken fluently in the previous reading and words stuttered also in the previous reading) were analyzed. If motor learning facilitated fluency during repeated readings in PWS, words read fluently in a reading should not be stuttered in a later reading in significant numbers. Contrary to this prediction, there was no statistical difference in the number of new words stuttered across five readings. A plausible alternative explanation, which requires further study to verify, is offered.


Asunto(s)
Destreza Motora , Práctica Psicológica , Lectura , Inteligibilidad del Habla , Tartamudeo/psicología , Conducta Verbal , Adolescente , Adulto , Femenino , Humanos , Masculino , Medición de la Producción del Habla , Adulto Joven
12.
Br J Ophthalmol ; 96(11): 1395-8, 2012 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-22923456

RESUMEN

AIM: To describe the long-term outcomes of lens-sparing vitrectomy (LSV) for retinopathy of prematurity (ROP). METHODS: Single-centre retrospective case series of eyes that underwent LSV for ROP between 1998 and 2005 and had a follow-up of at least 5 years. The primary outcome was the mean visual acuity, and secondary outcomes were the proportion of eyes without functional vision, proportion of eyes with anatomic success, proportion of Stage 4A eyes with vision better than 20/400, proportion of Stage 4B eyes with vision better than 20/800. RESULTS: Thirty-seven eyes of 30 patients (mean age at last follow-up: 7.1 years) were included in the study, while an additional 23 patients had been lost to follow-up and were not included in the study. Of eyes that underwent LSV for Stage 4A or 4B: 63% had measurable visual acuity (mean logMAR 0.92 for Stage 4A, 1.63 for Stage 4B), 19% had form vision, but neurological comorbidities precluded visual acuity measurement, and the remaining 18% had light perception or no light perception. CONCLUSIONS: While most eyes that underwent LSV for Stage 4A or 4B ROP maintain useful vision with long-term follow-up, approximately one-fifth of eyes had no functional vision, and in a further fifth, vision could not be measured due to severe neurological impairment.


Asunto(s)
Cristalino/cirugía , Retinopatía de la Prematuridad/cirugía , Agudeza Visual , Vitrectomía/métodos , Niño , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Cristalino/fisiopatología , Masculino , Retinopatía de la Prematuridad/fisiopatología , Estudios Retrospectivos , Factores de Tiempo , Resultado del Tratamiento
13.
J Gastrointest Surg ; 13(11): 1963-74; discussion 1974-5, 2009 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-19760307

RESUMEN

OBJECTIVE: The objective of this study was to use a population-based dataset to evaluate the number of readmissions and reasons for readmission in Medicare patients undergoing pancreatectomy for pancreatic cancer. METHODS: We used Surveillance, Epidemiology, and End Results-Medicare linked data (1992-2003) to evaluate the initial hospitalization, readmission rates within 30 days (early), and between 30 days and 1 year (late) after initial discharge and reasons for readmission in patients 66 years and older undergoing pancreatectomy. RESULTS: We identified 1,730 subjects who underwent pancreatectomy for pancreatic cancer. The in-hospital mortality was 7.5%. The overall Kaplan-Meier readmission rate was 16% at 30 days and 53% at 1 year, accounting for 15,409 additional hospital days. Early readmissions were clearly related to operative complications in 80% of cases and unrelated diagnoses in 20% of cases. Late readmissions were related to recurrence in 48%, operative complications in 25%, and unrelated diagnoses in 27% of cases. In a multivariate analysis, only distal pancreatic resection (P = 0.02) and initial postoperative length of stay > or =10 days (P = 0.03) predicted early readmission. When compared to patients not readmitted, patients readmitted early had worse median survival (11.8 vs.16.5 months, P = 0.04), but the 5-year survival was identical (18%). Late readmission was associated with worse median and 5-year survival (19.4 vs. 12.1 months, 12% vs. 21%, P < 0.0001). CONCLUSIONS: Our study demonstrates overall 30-day and 1-year readmission rates of 16% and 53%. The majority of early readmissions were related to postoperative complications but not related to patient and tumor characteristics. Complications causing early readmission are a cause of early mortality and are potentially preventable. Conversely, late readmissions are related to disease progression and are a marker of early mortality and not the cause.


Asunto(s)
Adenocarcinoma/cirugía , Pancreatectomía/estadística & datos numéricos , Neoplasias Pancreáticas/cirugía , Readmisión del Paciente/estadística & datos numéricos , Adenocarcinoma/mortalidad , Anciano , Progresión de la Enfermedad , Femenino , Mortalidad Hospitalaria , Humanos , Estimación de Kaplan-Meier , Masculino , Medicare/estadística & datos numéricos , Pancreatectomía/mortalidad , Neoplasias Pancreáticas/mortalidad , Modelos de Riesgos Proporcionales , Programa de VERF , Estados Unidos/epidemiología
14.
Ann Surg ; 248(3): 459-67, 2008 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-18791366

RESUMEN

OBJECTIVE: To use a large population-based cohort to determine age-dependent short-term outcomes after pancreatic resection. METHODS: We identified all pancreatic resections in Texas from 1999 to 2005. Patients were stratified into 4 age groups (<60, 60-69, 70-79, and 80+ years). Bivariate and multivariate analyses were performed to determine the effect of age on mortality, discharge to home versus requiring inpatient nursing care, and length of stay. RESULTS: Three thousand seven hundred and thirty-six patients underwent pancreatic resection. Unadjusted in-hospital mortality increased with each increasing age group from 2.4% in patients <60 to 11.4% in patients 80 years and older (P < 0.0001). Likewise, postoperative lengths of stay increased with each increasing age group (P = 0.02). Age group independently predicted the need for discharge to an inpatient nursing unit rather than home (P < 0.0001), with the odds ration (OR) increasing with each increasing age group. With each increasing age group, patients were less likely to be resected at high-volume (H-V) hospitals (>10 pancreatic resections/y). Whereas low-volume (L-V) hospitals (< or =10 pancreatic resections/y) had higher mortality rates (3.2% versus 7.3%, P < 0.0001), the difference in mortality between H- and L-V hospitals was more striking in older patients. With increasing age group, mortality increased from 3.0% to 9.5% to 11.4% to 14.7% at L-V hospitals. It increased from 2.0% to 3.5% to 4.5% to 8.7% at H-V hospitals (P < 0.0001). In the multivariate model controlling for gender, race, hospital volume, year of surgery, diagnosis, risk of mortality, severity of illness, admission status, and procedure type, older age group independently predicted increased mortality. The OR for patients 60-69 years was 2.5 (P = 0.0003), the OR for patients 70-79 years was 1.8 (P = 0.02), and the OR for patients 80+ years was 4.4 (P < 0.0001) when compared with patients <60 years. CONCLUSIONS: In contrast to some previous single-institution studies, we found that increased age is an independent risk factor for mortality after pancreatic resection. For all ages, mortality rates were higher at L-V hospitals, but the difference worsened significantly with increasing age. Older patients had longer lengths of stay, were less likely to be discharged home, and more likely to require care at an inpatient nursing or acute care facility at the time of discharge.


Asunto(s)
Pancreatectomía/mortalidad , Enfermedades Pancreáticas/cirugía , Factores de Edad , Anciano , Anciano de 80 o más Años , Femenino , Hospitalización , Humanos , Tiempo de Internación , Masculino , Persona de Mediana Edad , Factores de Tiempo , Resultado del Tratamiento
15.
J Asthma ; 44(3): 177-81, 2007 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-17454334

RESUMEN

The present study was conducted to determine whether older adults can learn and retain information on asthma and play a role as community health workers to teach children about asthma. A total of 36 older adults and 28 students in grades K-6 participated. Pre-tests and post-tests were administered to participants. Improvement in older adult scores after training was significant (p = .001), and improvement persisted through the conclusion of teaching sessions (p = 0.001). The increase in lower student scores was significant (p = 0.050). Results suggest that older adults can learn and retain asthma information and schoolchildren can learn asthma-related information taught by older adults.


Asunto(s)
Asma/terapia , Educación en Salud , Promoción de la Salud/métodos , Garantía de la Calidad de Atención de Salud , Voluntarios/educación , Anciano , Baltimore , Niño , Evaluación Educacional , Femenino , Humanos , Aprendizaje , Estudiantes/psicología , Voluntarios/psicología
16.
Plant Cell Rep ; 26(1): 21-8, 2007 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-16902798

RESUMEN

Unfertilized ovaries isolated from immature female flowers of coconut (Cocos nucifera L.) were tested as a source of explants for callogenesis and somatic embryogenesis. The correct developmental stage of ovary explants and suitable in vitro culture conditions for consistent callus production were identified. The concentration of 2,4-dichlorophenoxyacetic acid (2,4-D) and activated charcoal was found to be critical for callogenesis. When cultured in a medium containing 100 microM 2,4-D and 0.1% activated charcoal, ovary explants gave rise to 41% callusing. Embryogenic calli were sub-cultured into somatic embryogenesis induction medium containing 5 microM abscisic acid, followed by plant regeneration medium (with 5 microM 6-benzylaminopurine). Many of the somatic embryos formed were complete with shoot and root poles and upon germination they gave rise to normal shoots. However, some abnormal developments were also observed. Flow cytometric analysis revealed that all the calli tested were diploid. Through histological studies, it was possible to study the sequence of the events that take place during somatic embryogenesis including orientation, polarization and elongation of the embryos.


Asunto(s)
Cocos/embriología , Flores/embriología , Núcleo Celular/metabolismo , Cocos/citología , Cocos/fisiología , Citometría de Flujo , Flores/fisiología , Meristema/citología , Meristema/fisiología , Brotes de la Planta/citología , Brotes de la Planta/fisiología , Regeneración , Técnicas de Cultivo de Tejidos
17.
Am J Hum Genet ; 73(6): 1282-92, 2003 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-14610718

RESUMEN

Crohn disease (CD) and ulcerative colitis (UC) are overlapping chronic inflammatory bowel diseases (IBDs). Suggestive evidence for linkage at chromosome 7q has been reported for both CD and UC. Contained within this region is the gene for MDR1 (multidrug resistance), a membrane transport protein for which human polymorphisms have been reported in Ala893Ser/Thr and C3435T that alter pharmacokinetic profiles for a variety of drugs. Because mdr1 knockout mice spontaneously develop colitis, exonic regions were resequenced and tested for IBD association in a large, multicenter North American cohort. Two missense mutations, Asn21Asp and Ala893Ser/Thr, as well as the expression-associated polymorphism C3435T, described elsewhere, were genotyped in the entire cohort. Significant association of Ala893 with IBD was observed by both case-control analysis (P=.002) and the pedigree disequilibrium test (PDT [P=.00020-.00030]) but not for the Asn21Asp or C3435T polymorphisms. Significant association by PDT was observed within the subset with CD (P=.0014-.00090), with similar, nonsignificant trends in a smaller subset with UC. The Ala893Ser/Thr variant is triallelic, and the associated, common allele is Ala893, with undertransmission of the 893Ser (common) and the 893Thr (rare) variants. The Ala893 variant has decreased activity compared with the 893Ser variant; therefore, the association with human IBD is consistent with the murine model of mdr1 deficiency. Taken together, these data support the association of the common Ala893 polymorphism with IBD specifically and, more broadly, provides additional support for its contribution to interindividual pharmacogenetic variation.


Asunto(s)
Cromosomas Humanos Par 7/genética , Genes MDR/genética , Predisposición Genética a la Enfermedad , Enfermedades Inflamatorias del Intestino/genética , Alanina/genética , Cartilla de ADN , Frecuencia de los Genes , Humanos , Mutación Missense/genética , América del Norte , Linaje , Farmacogenética , Polimorfismo de Nucleótido Simple , Análisis de Secuencia de ADN
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