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1.
PLoS Med ; 19(1): e1003878, 2022 01.
Artículo en Inglés | MEDLINE | ID: mdl-34986158

RESUMEN

BACKGROUND: Postpartum contraception prevents unintended pregnancies and short interpregnancy intervals. The Pregnancy Risk Assessment Monitoring System (PRAMS) collects population-based data on postpartum contraception nonuse and reasons for not using postpartum contraception. In addition to quantitative questions, PRAMS collects open-text responses that are typically left unused by secondary quantitative analyses. However, abundant preexisting open-text data can serve as a resource for improving quantitative measurement accuracy and qualitatively uncovering unexpected responses. We used PRAMS survey questions to explore unprompted reasons for not using postpartum contraception and offer insight into the validity of categorical responses. METHODS AND FINDINGS: We used 31,208 categorical 2012 PRAMS survey responses from postpartum women in the US to calculate original prevalences of postpartum contraception use and nonuse and reasons for contraception nonuse. A content analysis of open-text responses systematically recoded data to mitigate survey bias and ensure consistency, resulting in adjusted prevalence calculations and identification of other nonuse themes. Recoded contraception nonuse slightly differed from original reports (21.5% versus 19.4%). Both calculations showed that many respondents reporting nonuse may be at a low risk for pregnancy due to factors like tubal ligation or abstinence. Most frequent nonuse reasons were not wanting to use birth control (27.1%) and side effect concerns (25.0%). Other open-text responses showed common themes of infertility, and breastfeeding as contraception. Comparing quantitative and qualitative responses revealed contradicting information, suggesting respondent misinterpretation and confusion surrounding the term "pregnancy prevention." Though this analysis may be limited by manual coding error and researcher biases, we avoided coding exhaustion via 1-hour coding periods and validated reliability through intercoder kappa scores. CONCLUSIONS: In this study, we observed that respondents reporting contraception nonuse often described other methods of pregnancy prevention and contraception barriers that were not included in categorical response options. Open-text responses shed light on a more comprehensive list of pregnancy prevention methods and nonuse options. Our findings contribute to survey questions that can lead to more accurate depiction of postpartum contraceptive behavior. Additionally, future use of these qualitative methods may be used to improve other health behavior survey development and resulting data.


Asunto(s)
Codificación Clínica/estadística & datos numéricos , Conducta Anticonceptiva/estadística & datos numéricos , Anticoncepción/estadística & datos numéricos , Periodo Posparto , Medición de Riesgo , Femenino , Encuestas Epidemiológicas , Humanos , Embarazo , Estados Unidos , Mujeres
2.
ERJ Open Res ; 6(3)2020 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-32832529

RESUMEN

Respiratory syncytial virus is a common cause of bronchiolitis. Historically, point-of-care tests have involved antigen detection technology with limited sensitivity. The aim of this study was to prospectively evaluate the diagnostic accuracy and model the economic impact of the Roche cobas® Liat® point-of-care influenza A/B and respiratory syncytial virus test. The "DEC-RSV" study was a multi-centre, prospective, observational study in children under 2 years presenting with viral respiratory symptoms. A nasopharyngeal aspirate sample was tested using the point-of-care test and standard laboratory-based procedures. The primary outcome was accuracy of respiratory syncytial virus detection. The cost implications of adopting a point-of-care test were modelled using study data. A total of 186 participants were recruited, with both tests performed on 177 samples. The point-of-care test was invalid for 16 samples (diagnostic yield 91%) leaving 161 available for primary analysis. After resolving discrepancies, the cobas® Liat® respiratory syncytial virus test had 100.00% (95% CI 96.07%-100.00%) sensitivity and 98.53% (95% CI 92.08%-99.96%) specificity. Median time to result was 0.6 h (interquartile range (IQR) 0.5-1) for point-of-care testing and 28.9 h (IQR 26.3-48.1) for standard laboratory testing. Estimated non-diagnostic cost savings for 1000 patients, based on isolation decision-making on point-of-care test result, were £57 010, which would increase to £94 847 when cohort nursing is used. In young children the cobas® Liat® point-of-care respiratory syncytial virus test has high diagnostic accuracy using nasopharyngeal aspirates (currently an off-licence sample type). Time to result is clinically important and was favourable compared to laboratory-based testing. The potential exists for cost savings when adopting the point-of-care test.

3.
PLoS One ; 15(1): e0228142, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-31971983

RESUMEN

OBJECTIVE: To explore the role of clinical providers and mothers on young women's ability to have confidential, candid reproductive health conversations with their providers. METHODS: We conducted 14 focus groups with 48 women aged 15-28 years (n = 9), and 32 reproductive healthcare workers (n = 5). Focus groups were audio recorded and transcribed. Data were analyzed using inductive coding and thematic analyses. We examined findings through the lens of paternalism, a theory that illustrates adults' role in children's autonomy and wellbeing. RESULTS: Mothers have a substantial impact on young women's health values, knowledge, and empowerment. Young women reported bringing information from their mothers into patient-provider health discussions. Clinical best practices included intermingled components of office policies, state laws, and clinical guidelines, which supported health workers' actions to have confidential conversations. There were variations in how health workers engaged young women in a confidential conversation within the exam room. CONCLUSIONS: Both young women and health workers benefit from situations in which health workers firmly ask the parent to leave the exam room for a private conversation with the patient. Young women reported this improves their comfort in asking the questions they need to make the best decision for themselves. Clinic leadership needs to ensure that confidentiality surrounding young women's reproductive health is uniform throughout their practice and integrated into patient flow.


Asunto(s)
Personal de Salud/estadística & datos numéricos , Madres , Salud Reproductiva/estadística & datos numéricos , Salud de la Mujer/estadística & datos numéricos , Adolescente , Adulto , Comunicación , Confidencialidad , Femenino , Personal de Salud/legislación & jurisprudencia , Humanos , Privacidad , Salud Reproductiva/legislación & jurisprudencia , Salud de la Mujer/legislación & jurisprudencia , Adulto Joven
4.
Nano Lett ; 19(11): 7623-7631, 2019 11 13.
Artículo en Inglés | MEDLINE | ID: mdl-31317745

RESUMEN

Extracellular vesicles (EVs) are of considerable interest as tumor biomarkers because tumor-derived EVs contain a broad array of information about tumor pathophysiology. However, current EV assays cannot distinguish between EV biomarker differences resulting from altered abundance of a target EV population with stable biomarker expression, altered biomarker expression in a stable target EV population, or effects arising from changes in both parameters. We now describe a rapid nanoparticle- and dye-based fluorescent immunoassay that can distinguish among these possibilities by normalizing EV biomarker levels to EV abundance. In this approach, EVs are captured from complex samples (e.g., serum), stained with a lipophilic dye, and hybridized with antibody-conjugated quantum dot probes for specific EV surface biomarkers. EV dye signal is used to quantify EV abundance and normalize EV surface biomarker expression levels. EVs from malignant and nonmalignant pancreatic cell lines exhibited similar staining, and probe-to-dye ratios did not change with EV abundance, allowing direct analysis of normalized EV biomarker expression without a separate EV quantification step. This EV biomarker normalization approach markedly improved the ability of serum levels of two pancreatic cancer biomarkers, EV EpCAM and EV EphA2, to discriminate pancreatic cancer patients from nonmalignant control subjects. The streamlined workflow and robust results of this assay are suitable for rapid translation to clinical applications and its modular design permits it to be rapidly adapted to quantitate other EV biomarkers by the simple expedient of swapping the antibody-conjugated quantum dot probes for those that recognize a different disease-specific EV biomarker.


Asunto(s)
Vesículas Extracelulares/patología , Colorantes Fluorescentes/química , Lípidos/química , Neoplasias Pancreáticas/diagnóstico , Puntos Cuánticos/química , Biomarcadores de Tumor/análisis , Línea Celular Tumoral , Molécula de Adhesión Celular Epitelial/análisis , Humanos , Inmunoensayo , Receptor EphA2/análisis
6.
Sex Health ; 14(6): 558-565, 2017 11.
Artículo en Inglés | MEDLINE | ID: mdl-28641707

RESUMEN

Background Baseline genotyping is part of standard-of-care treatment. It reveals that transmitted drug resistance (TDR) continues to be important for the management of HIV infection. Attention is typically focused on determining whether resistance to the protease inhibitors (PI) and reverse transcriptase inhibitors (RTI) occurs. However, the increasing use of integrase inhibitors (INIs) raises a concern that TDR to this class of antiretroviral drug may also occur. METHODS: PI and RTI drug resistance genotyping was performed on blood samples collected between 2005 and 2015 from 772 treatment-naïve Victorian patients infected with HIV within the previous 12 months. Integrase genotyping was performed on 461 of the 485 patient samples collected between 2010 and 2015. RESULTS: In the period 2005-10, 39 of 343 patients (11.4%) had at least one PI- or RTI-associated mutation, compared with 34 of 429 (7.9%) during the period 2011-15. Compared with 2005-10, during 2011-15 there was a significant decline in the prevalence of the non-nucleoside-associated mutation K103N and the nucleoside-associated mutations at codons M41 and T215. One patient was detected with a major INI resistance mutation, namely G118R. However, this mutation is rare and its effect on susceptibility is unclear. A small number of patients (n=12) was infected with HIV containing accessory resistance mutations in the integrase gene. CONCLUSIONS: The lack of transmitted resistance to INIs is consistent with a low level of resistance to this class of drugs in the treated population. However, continued surveillance in the newly infected population is warranted as the use of INIs increases.


Asunto(s)
Farmacorresistencia Viral/genética , Infecciones por VIH/tratamiento farmacológico , Inhibidores de Integrasa/farmacología , Inhibidores de Proteasas/farmacología , Inhibidores de la Transcriptasa Inversa/farmacología , Adulto , Femenino , Genotipo , Infecciones por VIH/epidemiología , Humanos , Masculino , Mutación , Reacción en Cadena de la Polimerasa , Victoria/epidemiología
7.
Am J Hosp Palliat Care ; 32(3): 341-9, 2015 May.
Artículo en Inglés | MEDLINE | ID: mdl-24576832

RESUMEN

In response to a 2011 finding that approximately 27% of Medicare-certified hospices do not provide a single day of general inpatient care (GIP), the authors explored the extent to which hospices have contracts with hospitals for GIP. Using the 2007 National Home and Hospice Care Survey, we estimated that 1119 (32%) agencies had no contract with any hospitals in 2007 and half of those with no contract did not have a contract with a skilled nursing facility (SNF) either. As a result, these hospices were unable to provide GIP referrals for those in need of inpatient care for acute pain and symptom management. More importantly, not having a contract with a hospital was just one of the factors influencing GIP provision. In the multivariate logistic model, after controlling for contract status with a hospital and other hospice characteristics, agencies in the second quartile of hospice patient census (12-29 vs 73 or more, adjusted odds ratio = 14.10; 95% confidence interval 4.26-46.62) were independently related to providing only routine home care. These hospices are more likely to rely solely on scatter beds for GIP provision. Given that a significant portion of hospices do not have a contract with a hospital, policy makers need to understand barriers to contracts with a hospital/SNF for GIP and consider a hospice's contract status as one of the standards for hospice certification. In addition, further research is necessary to understand why hospices that do have a contract with a hospital do not make GIP referral.


Asunto(s)
Contratos/estadística & datos numéricos , Hospitales para Enfermos Terminales/organización & administración , Hospitales para Enfermos Terminales/estadística & datos numéricos , Hospitales/estadística & datos numéricos , Servicios de Atención de Salud a Domicilio/estadística & datos numéricos , Humanos , Medicare/estadística & datos numéricos , Derivación y Consulta/estadística & datos numéricos , Estados Unidos
8.
Carcinogenesis ; 35(11): 2602-10, 2014 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-25233932

RESUMEN

Although the etiology of squamous cell carcinomas of the oral mucosa is well understood, the cellular origin and the exact molecular mechanisms leading to their formation are not. Previously, we observed the coordinated loss of E-cadherin (CDH1) and transforming growth factor beta receptor II (TGFBR2) in esophageal squamous tumors. To investigate if the coordinated loss of Cdh1 and Tgfbr2 is sufficient to induce tumorigenesis in vivo, we developed two mouse models targeting ablation of both genes constitutively or inducibly in the oral-esophageal epithelium. We show that the loss of both Cdh1 and Tgfbr2 in both models is sufficient to induce squamous cell carcinomas with animals succumbing to the invasive disease by 18 months of age. Advanced tumors have the ability to invade regional lymph nodes and to establish distant pulmonary metastasis. The mouse tumors showed molecular characteristics of human tumors such as overexpression of Cyclin D1. We addressed the question whether TGFß signaling may target known stem cell markers and thereby influence tumorigenesis. From our mouse and human models, we conclude that TGFß signaling regulates key aspects of stemness and quiescence in vitro and in vivo. This provides a new explanation for the importance of TGFß in mucosal homeostasis.


Asunto(s)
Cadherinas/genética , Carcinoma de Células Escamosas/genética , Neoplasias de la Boca/genética , Proteínas Serina-Treonina Quinasas/genética , Receptores de Factores de Crecimiento Transformadores beta/genética , Animales , Antígenos CD , Cadherinas/metabolismo , Carcinogénesis/genética , Proliferación Celular/genética , Ciclina D1/biosíntesis , Ciclina D1/genética , Células Epiteliales/metabolismo , Homeostasis , Humanos , Ratones , Neoplasias de la Boca/patología , Proteínas Serina-Treonina Quinasas/metabolismo , Receptor Tipo II de Factor de Crecimiento Transformador beta , Receptores de Factores de Crecimiento Transformadores beta/metabolismo , Transducción de Señal , Tamoxifeno/administración & dosificación
9.
Med Sci Monit ; 18(7): CR425-31, 2012 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-22739732

RESUMEN

BACKGROUND: Toxic metal exposure (e.g. Hg, Pb, As) exposure is known to induce significant adverse effects on human brain function. The aim this study was to assess toxic metal body-burden in relation to potential brain dysfunction in patients diagnosed with neurological disorders (NDs). MATERIAL/METHODS: The Liberty Institutional Review Board (Deland, FL) approved the present study. Quantitative, fractionated, random urinary porphyrin testing (µg/L) from the Clinical Laboratory Improvement Act/Amendment (CLIA)-approved Laboratory Corporation of America (LabCorp) and cortical perfusion index (CPi) values from single-photon-emission-computed-tomography (SPECT) brain scans were employed to evaluate a prospective cohort of qualifying patients with diagnosed NDs (n=52) presenting for medical care at an endocrinology practice in the Cincinnati, OH area. RESULTS: Patients with more severe in comparison to mild brain dysfunction had significant increases in the mean urinary concentration of uroporphyrins (uP), coproporphyrins I (cP I), and total cP (cP I + III), as well as a trend towards significantly increased mean urinary concentration of pentacarboxyporphyins (5cxP) and cP III. A significant positive correlation between Hg body-burden associated porphyrins (5cxP + cP I + cP III) and increased brain dysfunction was observed. CONCLUSIONS: The present study associated brain dysfunction with Hg body-burden in a cohort of patients diagnosed with NDs, but the contributions of other heavy metals or genetic factors cannot be ruled-out. Additional studies should be conducted to evaluate the consistency of the present findings with examinations of other populations.


Asunto(s)
Carga Corporal (Radioterapia) , Encéfalo/fisiopatología , Metales Pesados/efectos adversos , Enfermedades del Sistema Nervioso/fisiopatología , Anciano , Anciano de 80 o más Años , Encéfalo/efectos de los fármacos , Coproporfirinas/orina , Demografía , Femenino , Hemo/biosíntesis , Humanos , Masculino , Persona de Mediana Edad , Enfermedades del Sistema Nervioso/diagnóstico , Enfermedades del Sistema Nervioso/orina
10.
Environ Sci Technol ; 46(19): 10447-54, 2012 Oct 02.
Artículo en Inglés | MEDLINE | ID: mdl-22506935

RESUMEN

Nitrate and halide ions coexist in a number of environmental systems, including sea salt particles, the Arctic snowpack, and alkaline dry lakes. However, little is known about potential synergisms between halide and nitrate ions. The effect of sea salt on NO(3)(-) photochemistry at 311 nm was investigated at 298 K using thin films of deliquesced NaNO(3)-synthetic sea salt mixtures. Gas phase NO(2), NO, and halogen products were measured as a function of photolysis time using NO(y) chemiluminescence and atmospheric pressure ionization mass spectrometry (API-MS). The production of NO(2) increases with the halide-to-nitrate ratio, and is similar to that for mixtures of NaCl with NaNO(3). Gas phase halogen production also increased with the halide-to-nitrate ratio, consistent with NO(3)(-) photolysis yielding OH which oxidizes halide ions in the film. Yields of gas phase halogens and NO were strongly dependent on the acidity of the solution, while that of NO(2) was not. An additional halogen formation mechanism in the dark involving molecular HNO(3) is proposed that may be important in other systems such as reactions on surfaces. These studies show that the yield of Br(2) relative to NO(2) during photolysis of halide-nitrate mixtures could be as high as 35% under some atmospheric conditions.


Asunto(s)
Halógenos/química , Nitratos/química , Dióxido de Nitrógeno/química , Fotoquímica/métodos , Agua de Mar/química , Atmósfera , Presión Atmosférica , Bromuros/química , Cloruros/química , Oxidación-Reducción , Fotólisis , Cloruro de Sodio/química , Temperatura , Agua/química
11.
PLoS One ; 6(11): e27063, 2011.
Artículo en Inglés | MEDLINE | ID: mdl-22069487

RESUMEN

E-cadherin is frequently lost during epithelial-mesenchymal transition and the progression of epithelial tumorigenesis. We found a marker of epithelial-mesenchymal transition, CD44, upregulated in response to functional loss of E-cadherin in esophageal cell lines and cancer. Loss of E-cadherin expression correlates with increased expression of CD44 standard isoform. Using an organotypic reconstruct model, we show increased CD44 expression in areas of cell invasion is associated with MMP-9 at the leading edge. Moreover, Activin A increases cell invasion through CD44 upregulation after E-cadherin loss. Taken together, our results provide functional evidence of CD44 upregulation in esophageal cancer invasion.


Asunto(s)
Cadherinas/metabolismo , Movimiento Celular , Neoplasias Esofágicas/metabolismo , Neoplasias Esofágicas/patología , Esófago/metabolismo , Receptores de Hialuranos/metabolismo , Metaloproteinasa 9 de la Matriz/metabolismo , Western Blotting , Adhesión Celular , Línea Celular , Proliferación Celular , Células Epiteliales/metabolismo , Técnica del Anticuerpo Fluorescente , Regulación Neoplásica de la Expresión Génica , Humanos , Técnicas para Inmunoenzimas , Invasividad Neoplásica , Regulación hacia Arriba
12.
J Phys Chem A ; 115(23): 5810-21, 2011 Jun 16.
Artículo en Inglés | MEDLINE | ID: mdl-21291193

RESUMEN

Nitrate ions commonly coexist with halide ions in aged sea salt particles, as well as in the Arctic snowpack, where NO(3)(-) photochemistry is believed to be an important source of NO(y) (NO + NO(2) + HONO + ...). The effects of bromide ions on nitrate ion photochemistry were investigated at 298 ± 2 K in air using 311 nm photolysis lamps. Reactions were carried out using NaBr/NaNO(3) and KBr/KNO(3) deposited on the walls of a Teflon chamber. Gas phase halogen products and NO(2) were measured as a function of photolysis time using long path FTIR, NO(y) chemiluminescence and atmospheric pressure ionization mass spectrometry (API-MS). Irradiated NaBr/NaNO(3) mixtures show an enhancement in the rates of production of NO(2) and Br(2) as the bromide mole fraction (χ(NaBr)) increased. However, this was not the case for KBr/KNO(3) mixtures where the rates of production of NO(2) and Br(2) remained constant over all values of χ(KBr). Molecular dynamics (MD) simulations show that the presence of bromide in the NaBr solutions pulls sodium toward the solution surface, which in turn attracts nitrate to the interfacial region, allowing for more efficient escape of NO(2) than in the absence of halides. However, in the case of KBr/KNO(3), bromide ions do not appreciably affect the distribution of nitrate ions at the interface. Clustering of Br(-) with NO(3)(-) and H(2)O predicted by MD simulations for sodium salts may facilitate a direct intermolecular reaction, which could also contribute to higher rates of NO(2) production. Enhanced photochemistry in the presence of halide ions may be important for oxides of nitrogen production in field studies such as in polar snowpacks where the use of quantum yields from laboratory studies in the absence of halide ions would lead to a significant underestimate of the photolysis rates of nitrate ions.


Asunto(s)
Bromuros/química , Membranas Artificiales , Nitratos/química , Agua/química , Presión Atmosférica , Iones/química , Espectrometría de Masas , Simulación de Dinámica Molecular , Fotólisis
13.
Bone ; 41(6): 965-72, 2007 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-17920346

RESUMEN

INTRODUCTION: Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterized by exocrine pancreatic insufficiency and bone marrow dysfunction. These result in malabsorption and hematological abnormalities. A skeletal dysplasia is also an integral feature of SDS. The present study assessed prevalence and determinants of osteopenia and osteoporosis in patients with SDS and disease-causing mutations in the SBDS gene. MATERIALS AND METHODS: Eleven patients (8 males) aged from 5 to 37 years (median 16.7 years) with a genetically confirmed diagnosis of SDS were assessed for fracture history, bone mineral content (BMC), lean tissue mass (LTM) and bone mineral density (BMD) (Hologic Discovery A), osteoporotic vertebral changes, and for blood biochemistry and hematological parameters. Iliac crest bone biopsies were obtained from four patients for histology and histomorphometry. RESULTS: The main findings were: (1) markedly reduced BMD Z-scores at the lumbar spine (median -2.1, range -4.4 to -0.8), proximal femur (median -1.3, range -2.2 to -0.7) and, whole body (median -1.0, range -2.8 to +0.6), and reduced Z-scores for height-adjusted BMC/LTM ratio (median -0.9, range -3.6 to +1.1); (2) vertebral compression fractures in three patients; and (3) blood biochemistry suggestive of mild vitamin D and vitamin K deficiency. Bone biopsies in four patients showed significant low-turnover osteoporosis with reduced trabecular bone volume, low numbers of osteoclasts and osteoblasts, and reduced amount of osteoid. CONCLUSIONS: The results suggest that in addition to the skeletal dysplasia, SDS is associated with a more generalized bone disease characterized by low bone mass, low bone turnover and by vertebral fragility fractures. Osteoporosis may result from a primary defect in bone metabolism, and could be related to the bone marrow dysfunction and neutropenia.


Asunto(s)
Huesos/metabolismo , Osteoporosis/complicaciones , Osteoporosis/metabolismo , Adolescente , Adulto , Biopsia , Densidad Ósea , Huesos/patología , Niño , Preescolar , Femenino , Humanos , Masculino , Osteoporosis/diagnóstico por imagen , Osteoporosis/genética , Radiografía , Síndrome
14.
Chem Phys Lett ; 447(4-6): 335-339, 2007 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-20648229

RESUMEN

Surface enhanced Raman scattering (SERS) has been conducted on tryptophan (W), proline (P) and tyrosine (Y) containing peptides that include W-P-Y, Y-P-W, W-P-P-P-Y, Y-P-P-P-W, W-P-P-P-P-P-Y, and Y-P-P-P-P-P-W to gain insight into molecular binding behavior on a metal substrate to eventually apply in protein SERS detection. The peptides are shown to bind through the molecule's carboxylic end, but the strong affinity of the tryptophan residue to the substrate surface, in conjunction with its large polarizability, dominates each molecule's SERS signal with the strong presence of its ring modes in all samples. These results are important for understanding SERS of protein molecules.

15.
Gastroenterol Nurs ; 28(3): 221-6, 2005.
Artículo en Inglés | MEDLINE | ID: mdl-15976565

RESUMEN

Comparing the quality of life of persons who have experienced amputations and persons who have had bowel resections illustrates the impact of chronic disease upon all aspects of a patient's life. Because the purpose of nursing research is to bring about knowledge to better direct patient care, understanding the impact of chronic illness contributes to an improvement in the quality of life of these patients. By appreciating the patient's perspective concerning the illness, the nurse can better educate the patient in all aspects of the disease process. Based on Jean Watson's Theory of Human Caring, this study acknowledged the need for evidence-based nursing practice to care for the well-being of the patient in a holistic manner. Our hypothesis was adult patients after Crohn disease-related bowel resection experience a better quality of life than do adult patients with peripheral vascular disease related amputation. This descriptive comparative study had a sample of patients with Crohn disease and resection (n = 28) and patients with peripheral vascular amputation (n = 16). The instrument used to measure quality of life was the RAND-36 Item Health Survey 1.0. Results revealed significant differences between the patients with bowel resection and those with peripheral vascular amputation with regard to physical functioning, general health, and role limitations related to physical health. No significant differences existed between the two groups in terms of energy/fatigue, emotional well-being, social functioning, role limitations related to emotional problems, and pain. Results from the data may indicate that the incorporation of more education regarding social, emotional, physiological, and psychological aspects of postoperative life may be of importance to evidence based nursing practice. This addition may also lead to better adjustment to postoperative life for patients and improve overall quality of life.


Asunto(s)
Amputación Quirúrgica/rehabilitación , Enfermedad de Crohn/cirugía , Procedimientos Quirúrgicos del Sistema Digestivo/rehabilitación , Enfermedades Vasculares Periféricas/cirugía , Calidad de Vida , Actividades Cotidianas , Adaptación Psicológica , Adulto , Anciano , Amputación Quirúrgica/psicología , Procedimientos Quirúrgicos del Sistema Digestivo/psicología , Femenino , Salud Holística , Humanos , Masculino , Persona de Mediana Edad , Estadísticas no Paramétricas
16.
Nat Genet ; 33(1): 97-101, 2003 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-12496757

RESUMEN

Shwachman-Diamond syndrome (SDS; OMIM 260400) is an autosomal recessive disorder with clinical features that include pancreatic exocrine insufficiency, hematological dysfunction and skeletal abnormalities. Here, we report identification of disease-associated mutations in an uncharacterized gene, SBDS, in the interval of 1.9 cM at 7q11 previously shown to be associated with the disease. We report that SBDS has a 1.6-kb transcript and encodes a predicted protein of 250 amino acids. A pseudogene copy (SBDSP) with 97% nucleotide sequence identity resides in a locally duplicated genomic segment of 305 kb. We found recurring mutations resulting from gene conversion in 89% of unrelated individuals with SDS (141 of 158), with 60% (95 of 158) carrying two converted alleles. Converted segments consistently included at least one of two pseudogene-like sequence changes that result in protein truncation. SDBS is a member of a highly conserved protein family of unknown function with putative orthologs in diverse species including archaea and eukaryotes. Archaeal orthologs are located within highly conserved operons that include homologs of RNA-processing genes, suggesting that SDS may be caused by a deficiency in an aspect of RNA metabolism that is essential for development of the exocrine pancreas, hematopoiesis and chrondrogenesis.


Asunto(s)
Insuficiencia Pancreática Exocrina/genética , Enfermedades Hematológicas/genética , Anomalías Musculoesqueléticas/genética , Proteínas/genética , Alelos , Secuencia de Bases , Cromosomas Humanos Par 7/genética , Secuencia Conservada , Análisis Mutacional de ADN , Femenino , Conversión Génica , Perfilación de la Expresión Génica , Humanos , Escala de Lod , Masculino , Datos de Secuencia Molecular , Mutación , Seudogenes/genética , ARN Mensajero/genética , ARN Mensajero/metabolismo , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Síndrome
17.
Eur J Hum Genet ; 10(4): 250-8, 2002 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-12032733

RESUMEN

Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterised by exocrine pancreatic dysfunction, haematological and skeletal abnormalities. We have previously defined the SDS locus as a 2.7 cM interval spanning the centromere of chromosome 7. To facilitate additional analysis of this complex and poorly characterised region, a framework of ordered genetic markers at 7p11-q11, including six newly identified, has been constructed using somatic cell, radiation hybrid and STS-content mapping. We have identified shared disease haplotypes, that recur in unrelated families of common ethnic origin, and extend across the SDS locus. Detection of ancestral and intrafamilial recombination events in patients refined the SDS locus to a 1.9 cM interval at 7q11, which contains the tyrosylprotein sulfotransferase 1 (TPST1) gene. Patients with SDS were screened for mutations in TPST1 by sequencing of exons and intron-exon junctions. Two single nucleotide polymorphisms, but no disease-causing mutations, were identified. In addition, Southern blot analysis yielded no evidence of large-scale mutations, and RT-PCR analysis failed to detect alterations in expression. These results exclude TPST1 as the causative gene for SDS. The established map of the refined SDS locus will assist in the identification and characterisation of other candidate genes for SDS.


Asunto(s)
Cromosomas Humanos Par 7/genética , Insuficiencia Pancreática Exocrina/genética , Enfermedades Hematológicas/genética , Anomalías Musculoesqueléticas/genética , Mapeo Físico de Cromosoma , Sulfotransferasas/genética , Análisis Mutacional de ADN , Femenino , Haplotipos , Humanos , Desequilibrio de Ligamiento , Masculino , Linaje , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Sulfotransferasas/metabolismo , Síndrome
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