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1.
J Nurses Prof Dev ; 35(5): 255-260, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31318733

RESUMO

The purpose of this descriptive correlational study was to determine if implementing gamification teaching methodologies in nondigital format into nursing orientation has a positive effect on orientees' motivation and knowledge retention. The study included a convenience sample of 152 registered nurses who attended the nursing orientation class at a Midwestern acute care facility. This study found that gamification had a positive effect on the orientees' motivation and knowledge retention.


Assuntos
Jogos Experimentais , Capacitação em Serviço/normas , Motivação , Recursos Humanos de Enfermagem no Hospital/educação , Avaliação de Programas e Projetos de Saúde , Educação Continuada em Enfermagem , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Recursos Humanos de Enfermagem no Hospital/normas
2.
Pediatr Phys Ther ; 31(3): 257-262, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-31225830

RESUMO

PURPOSE: Sitting delays in infants born preterm compound cognitive and language deficits. This retrospective study examines differences in prematurity-related risk and compares developmental outcomes between sitters and nonsitters at 6 months' adjusted age. METHODS: A total of 105 graduates of the neonatal intensive care unit met inclusion criteria. Infant demographic and medical risk profiles and 6-month Bayley Scales of Infant Development-3rd edition (BSID-III) cognitive and language scores were retrieved. Infants who sat with hands free greater than 60 seconds were classified as "sitters." RESULTS: Sixty-nine percent of the sample were nonsitters and were born earlier, had lower birth weights, were chronologically older at follow-up, and spent more days with respiratory support. BSID-III scores were significantly higher in sitters but did not differ by gender, multiple birth, head ultrasound results, payment type, or race/ethnicity. CONCLUSION: Sitting abilities at 6 months' adjusted age are associated with prematurity risk factors. Cognitive and language scores differ significantly between sitters and nonsitters.


Assuntos
Desenvolvimento Infantil/fisiologia , Recém-Nascido Prematuro/fisiologia , Postura Sentada , Cognição/fisiologia , Feminino , Humanos , Lactente , Unidades de Terapia Intensiva Neonatal , Linguagem , Masculino , Estudos Retrospectivos , Fatores de Risco
3.
PLoS One ; 12(9): e0184829, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28926614

RESUMO

Acute and chronic stress have been reported to have differing effects on physical activity in rodents, but no study has examined a chronic stress protocol that incorporates stressors often experienced by rodents throughout a day. To examine this, the effects of the Unpredictable Chronic Mild Stress (UCMS) protocol on voluntary running wheel activity at multiple time points, and/or in response to acute removal of chronic stress was determined. Twenty male Balb/c mice were given access and accustomed to running wheels for 4 weeks, after which they were randomized into 2 groups; exercise (EX, n = 10) and exercise with chronic stress using a modified UCMS protocol for 7 hours/day (8:00 a.m.-3:00p.m.), 5 days/week for 8 weeks (EXS, n = 10). All mice were given access to running wheels from approximately 3:30 p.m. to 7:30 a.m. during the weekday, however during weekends mice had full-time access to running wheels (a time period of no stress for the EXS group). Daily wheel running distance and time were recorded. The average running distance, running time, and work each weekday was significantly lower in EXS compared to EX mice, however, the largest effect was seen during week one. Voluntary wheel running deceased in all mice with increasing age; the pattern of decline appeared to be similar between groups. During the weekend (when no stress was applied), EXS maintained higher distance compared to EX, as well as higher daily distance, time, and work compared to their weekday values. These results indicate that mild chronic stress reduces total spontaneous wheel running in mice during the first week of the daily stress induction and maintains this reduced level for up to 8 consecutive weeks. However, following five days of UCMS, voluntary running wheel activity rebounds within 2-3 days.


Assuntos
Atividade Motora/fisiologia , Estresse Fisiológico , Animais , Peso Corporal , Metabolismo Energético , Masculino , Camundongos , Camundongos Endogâmicos BALB C
4.
Pediatr Nurs ; 42(3): 131-6, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27468515

RESUMO

PURPOSE: To evaluate home safety of children in the Ohio Valley Region. DESIGN AND METHODS: Using a cross-sectional design, data were collected by baccalaureate nursing students enrolled in a pediatric nursing course. A standardized Home Safety Assessment Survey and a Rural or Urban Safety Assessment were used with 95 families. Participants included 15 families who lived in rural areas and 80 families who lived in urban areas. The surveys were conducted in the homes of families that nursing students selected. RESULTS: Families with children under the age of 1 year had lower safe practices, while those with older and more than one child demonstrated higher safe practices. PRACTICE IMPLICATIONS: Based on these findings, interventions could be developed that focus on child injury prevention within home settings. Families presenting with the greatest risk of unintentional injuries can be identified and given extra attention and education.


Assuntos
Serviços de Assistência Domiciliar/normas , Segurança do Paciente , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Lactente , Kentucky , Masculino
5.
J Rural Health ; 30(3): 259-64, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24330261

RESUMO

PURPOSE: To determine if population density (rural vs urban) in a child's home community influenced the decision of eligibility for early intervention (EI) services. METHODS: The sample included 356 infants with a gestational age of <31 weeks referred from a statewide child find program for an evaluation for EI services. A binary logistic regression analysis was completed to determine which variables predicted acceptance into EI services. FINDINGS: Infants less than 31 weeks gestation residing in rural areas were more likely to be eligible for EI services than premature infants (ie, <31 weeks gestation) with similar birth characteristics from urban areas. A binary logistic regression analysis revealed an odds ratio for eligibility for EI services among children living in rural areas compared to those living in urban areas was 3.007 (95% CI, 1.497 to 6.040). Additionally, the odds ratio for eligibility for males as compared to females was 1.908 (95% CI, 1.017 to 3.578). Participants who lived in a rural area and were male were more likely to be eligible for EI services than those who lived in urban locations and were female. CONCLUSIONS: Factors such as community support, experience with high-risk populations, and differences in interpreting eligibility criteria may influence the differences found between the rural and urban populations. Analysis of intervention cost versus effectiveness will be needed to determine whether the system as adopted in the rural versus urban environment is more appropriate for the provision of EI services.


Assuntos
Avaliação da Deficiência , Doenças do Recém-Nascido/terapia , Unidades de Terapia Intensiva Neonatal , Densidade Demográfica , Encaminhamento e Consulta/estatística & dados numéricos , Feminino , Acesso aos Serviços de Saúde , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Masculino , Nebraska , Medição de Risco , Fatores de Risco , População Rural , Inquéritos e Questionários , População Urbana
7.
Nurs Clin North Am ; 48(4): 661-9, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-24295193

RESUMO

Rapid advances in knowledge and technology related to genomics cross health care disciplines and touch almost every aspect of patient care. The ability to sequence a genome holds the promise that health care can be personalized. Health care professionals are faced with a gap in the ability to use the rapidly expanding technology and knowledge related to genomics in practice. Yet, nurses are key to bridging the gap between genomic discoveries and the human experience of illness. This article presents a case study documenting the experience of five nursing schools/colleges of nursing as they work to integrate genetics and genomics into their curricula.


Assuntos
Bacharelado em Enfermagem/organização & administração , Educação em Enfermagem/métodos , Genética Médica/educação , Genômica/educação , Papel do Profissional de Enfermagem , Estudantes de Enfermagem , Adulto , Competência Clínica , Currículo , Feminino , Humanos , Masculino , Pesquisa em Educação de Enfermagem , Avaliação de Programas e Projetos de Saúde , Adulto Jovem
8.
J Pediatr Surg ; 48(10): 1995-2004, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-24094947

RESUMO

PURPOSE: To determine developmental outcomes and associated factors in patients with congenital diaphragmatic hernia (CDH) at 2 years of age. METHODS: This is a multicenter prospective study of a CDH birth cohort. Clinical and socioeconomic data were collected. Bayley Scales of Infant Development (BSID-III) and Vineland Adaptive Behavior Scales (VABS-II) were performed at 2 years of age. RESULTS: BSID-III and VABS-II assessments were completed on 48 and 49 children, respectively. The BSID-III mean cognitive, language, and motor scores were significantly below the norm mean with average scores of 93 ± 15, 95 ± 16, and 95 ± 11. Ten percent (5/47) scored more than 2 standard deviations below the norm on one or more domains. VABS-II scores were similar to BSID-III scores with mean communication, daily living skills, social, motor, adaptive behavior scores of 97 ± 14, 94 ± 16, 93 ± 13, 97 ± 10, and 94 ± 14. For the BSID-III, supplemental oxygen at 28 days, a prenatal diagnosis, need for extracorporeal membrane oxygenation (ECMO) and exclusive tube feeds at time of discharge were associated with lower scores. At 2 years of age, history of hospital readmission and need for tube feeds were associated with lower scores. Lower socioeconomic status correlated with lower developmental scores when adjusted for significant health factors. CONCLUSION: CDH patients on average have lower developmental scores at 2 years of age compared to the norm. A need for ECMO, oxygen at 28 days of life, ongoing health issues and lower socioeconomic status are factors associated with developmental delays.


Assuntos
Transtornos do Comportamento Infantil/etiologia , Deficiências do Desenvolvimento/etiologia , Hérnias Diafragmáticas Congênitas , Transtornos do Comportamento Infantil/diagnóstico , Pré-Escolar , Deficiências do Desenvolvimento/diagnóstico , Oxigenação por Membrana Extracorpórea , Feminino , Seguimentos , Nível de Saúde , Hérnia Diafragmática/complicações , Hérnia Diafragmática/cirurgia , Hérnia Diafragmática/terapia , Humanos , Recém-Nascido , Modelos Lineares , Masculino , Oxigenoterapia , Estudos Prospectivos , Testes Psicológicos , Fatores de Risco , Fatores Socioeconômicos
9.
Curr Urol ; 6(4): 199-204, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24917743

RESUMO

BACKGROUND: Inositol Hexaphosphate (IP6) is a naturally occurring polyphosphorylated carbohydrate that is found in food sources high in fiber content. We hypothesized that IP6 would inhibit the cell growth rate of bladder cancer in vitro. METHODS: T24 and TCCSUP bladder cancer cell lines were treated with titrating doses of IP6 (0.3, 0.6 and 0.9 mM/well). Cell viability and vascular endothelial growth factor levels were measured. RESULTS: Significant reductions (p < 0.001) in cellular growth were noted in both cell lines at all doses and time points tested, with the exception of 0.3 mM IP6 at 24 hours in the T24 cell line. The percent inhibition of vascular endothelial growth factor was significantly higher than that observed in the TCCSUP cell line at 48 and 72 hours with 0.3 mM IP6 (p < 0.001). The T24 cells exhibited the same level of inhibition at 24 and 48 hours with 0.6 mM dose of IP6 and at 72 hours with the 0.3 mM dose (p < 0.001). CONCLUSIONS: In vitro treatment of bladder cancer with the common dietary polyphosphorylated carbohydrate IP6 significantly decreased cellular growth by anti-angiogenic mechanisms. We feel that this data warrants further investigation and consideration for initiation of clinical trials to evaluate the safety and clinical utility of this agent.

10.
Can J Urol ; 19(5): 6480-4, 2012 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23040633

RESUMO

Sacral neuromodulation (SNM) has become a standard treatment option for patients suffering from urinary urge incontinence, urgency-frequency, and/or nonobstructive urinary retention refractory to conservative and pharmacologic treatment. Since its initial development, the manufacturer of InterStim therapy (Medtronic, Inc., Minneapolis, MN, USA), has introduced technical modifications, while surgeons and researchers have adapted and published various innovations and alterations of the implantation technique. In this article, we feature our SNM technique including patient selection, comprehensive dialogue/evaluation, procedure details, and appropriate follow up. Although there is often great variability in patients with lower urinary tract dysfunction, we maintain that great success can be achieved with a systematic and methodical approach to SNM.


Assuntos
Terapia por Estimulação Elétrica/métodos , Plexo Lombossacral , Transtornos Urinários/terapia , Humanos , Seleção de Pacientes , Uretra/inervação , Bexiga Urinária/inervação
11.
W V Med J ; 108(3): 42-7, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22792655

RESUMO

Exercise and physical activity have been linked to the prevention of certain types of cancer such as colon and breast. As prostate cancer is the most common malignancy diagnosed in the male population, there is obvious interest in determining a possible effect of exercise on disease prevention and improvement of disease-related outcomes. Thus far, data has been conflicting and there has been no clear determination of prostate cancer prevention through exercise. However, as prostate cancer treatment carries many side effects which may be bothersome and health-threatening, researchers have examined the effects of exercise training on reducing treatment-related complications and improving outcomes and quality of life (QOL). In this review, we discuss the impact of exercise on reducing side effects of prostate cancer treatment and improving cancer-specific and overall survival outcomes, as well as improving QOL in prostate cancer patients.


Assuntos
Exercício , Neoplasias da Próstata/prevenção & controle , Neoplasias da Próstata/terapia , Antagonistas de Androgênios/efeitos adversos , Humanos , Masculino , Radioterapia/efeitos adversos
12.
J Pediatr Surg ; 47(1): 125-9, 2012 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-22244404

RESUMO

PURPOSE: We evaluated 2-year neurodevelopmental outcomes in children with gastroschisis. METHODS: We reviewed the records of children with gastroschisis treated between August 2001 and July 2008. Children discharged from the neonatal intensive care unit were referred to the state-sponsored Developmental Tracking Infant Progress Statewide (TIPS) program. We reviewed TIPS assessments performed before age 2 years. School districts evaluated children referred by TIPS and determined their eligibility for early intervention services. Poor outcomes were defined as scores of "failure" or "moderate/high risk" on the screening assessment or enrollment in early intervention services by 2 years. Children with gastroschisis were compared with case-matched nonsurgical, nonsyndromic children of similar gestational age and birth weight. RESULTS: One hundred five children were born with gastroschisis, and 46 were followed up with TIPS. There was no statistically significant difference in performance on screening assessments or in the rate of enrollment in early intervention services between the gastroschisis children and controls. CONCLUSIONS: Children born with gastroschisis have similar 2-year neurodevelopmental outcomes as nonsurgical, nonsyndromic neonatal intensive care unit children of similar gestational age and birth weight. Both groups of children have a higher rate of enrollment in early intervention than their healthy peers. These data suggest that neurodevelopmental outcomes in gastroschisis children are delayed secondary to prematurity rather than the presence of the surgical disease.


Assuntos
Deficiências do Desenvolvimento/etiologia , Gastrosquise/complicações , Doenças do Sistema Nervoso/etiologia , Estudos de Casos e Controles , Estudos de Coortes , Feminino , Gastrosquise/cirurgia , Humanos , Lactente , Masculino , Estudos Retrospectivos , Fatores de Tempo
13.
Pediatr Phys Ther ; 24(1): 58-62, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22207470

RESUMO

PURPOSE: To identify the efficacy of the Bayley Scales of Infant and Toddler Development, Third Edition (BSID-III), Screening Test-Gross Motor Subtest (GMS) in identifying infants who are accepted for early intervention services. METHODS: This retrospective study included 93 infants with a neonatal intensive care experience who participated in a 6-month developmental assessment follow-up visit. All infants were examined using the BSID-III Screening Test-GMS and the Alberta Infant Motor Scale. A binary logical regression analysis was used to determine the best predictors of acceptance status in this sample. RESULTS: The BSID-III Screening Test-GMS accounted for a significant portion of the variance in acceptance status. CONCLUSION: The results suggest that the BSID-III Screening Test-GMS has great applicability for transdisciplinary/interdisciplinary teams as it effectively identified children who were eligible for early intervention.


Assuntos
Desenvolvimento Infantil/fisiologia , Avaliação da Deficiência , Necessidades e Demandas de Serviços de Saúde , Bem-Estar do Lactente , Destreza Motora , Triagem Neonatal/métodos , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Unidades de Terapia Intensiva Neonatal , Modelos Logísticos , Masculino , Testes Neuropsicológicos , Pediatria/instrumentação , Pediatria/métodos , Valor Preditivo dos Testes , Estudos Retrospectivos , Fatores de Risco
14.
Genome Res ; 21(8): 1223-38, 2011 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-21734011

RESUMO

Genetic reference populations in model organisms are critical resources for systems genetic analysis of disease related phenotypes. The breeding history of these inbred panels may influence detectable allelic and phenotypic diversity. The existing panel of common inbred strains reflects historical selection biases, and existing recombinant inbred panels have low allelic diversity. All such populations may be subject to consequences of inbreeding depression. The Collaborative Cross (CC) is a mouse reference population with high allelic diversity that is being constructed using a randomized breeding design that systematically outcrosses eight founder strains, followed by inbreeding to obtain new recombinant inbred strains. Five of the eight founders are common laboratory strains, and three are wild-derived. Since its inception, the partially inbred CC has been characterized for physiological, morphological, and behavioral traits. The construction of this population provided a unique opportunity to observe phenotypic variation as new allelic combinations arose through intercrossing and inbreeding to create new stable genetic combinations. Processes including inbreeding depression and its impact on allelic and phenotypic diversity were assessed. Phenotypic variation in the CC breeding population exceeds that of existing mouse genetic reference populations due to both high founder genetic diversity and novel epistatic combinations. However, some focal evidence of allele purging was detected including a suggestive QTL for litter size in a location of changing allele frequency. Despite these inescapable pressures, high diversity and precision for genetic mapping remain. These results demonstrate the potential of the CC population once completed and highlight implications for development of related populations.


Assuntos
Cruzamentos Genéticos , Endogamia , Locos de Características Quantitativas , Animais , Feminino , Variação Genética , Genótipo , Tamanho da Ninhada de Vivíparos/genética , Masculino , Camundongos , Camundongos Endogâmicos , Fenótipo , Polimorfismo de Nucleotídeo Único
15.
J Pediatr Nurs ; 26(1): 3-12, 2011 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-21256407

RESUMO

The purpose of this study was to compare upper arm and calf automatic blood pressures (BPs) in a convenience sample of 221 children, ages 1 to 8 years, admitted to a pediatric intensive care unit of a 180-bed teaching hospital in the Mid-Atlantic region of the United States. Subjects were positioned in bed, with the head of bed elevated 30° and extremities resting on the bed. BP cuff size was based on arm and calf circumferences. BPs were measured simultaneously using bedside and portable Spacelabs monitors. Calf BPs were greater than arm BPs in approximately 73% of the sample. Paired t tests show statistically significant differences for systolic BPs and mean arterial pressures. Influence of demographics, agitation levels, medical diagnoses, and current medications was explored. Calf and arm BPs were not interchangeable in acutely ill children, ages 1 to 8 years.


Assuntos
Braço , Pressão Sanguínea , Cuidados Críticos/métodos , Perna (Membro) , Enfermagem Pediátrica/métodos , Criança , Pré-Escolar , Sedação Consciente , Feminino , Humanos , Lactente , Masculino , Medição da Dor , Posicionamento do Paciente , Análise de Regressão
16.
Am J Med Sci ; 339(1): 95-7, 2010 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-20057281

RESUMO

Chronic mesenteric ischemia classically presents as "intestinal angina" with generalized postprandial abdominal pain lasting up to 3 hours. Over time, these episodes can become much more intense and ultimately lead to sitophobia with significant weight loss. Symptoms are not specific and often mistakenly attributed to other gastrointestinal etiologies such as peptic ulcer disease. Gastric ulcerations as a direct result of mesenteric ischemia have been reported but are relatively rare because of the rich collateral blood supply to the stomach. Therefore, a diagnosis of ischemic gastropathy is seldom entertained in patients presenting with abdominal pain and gastric ulcers.


Assuntos
Dor Abdominal/diagnóstico , Mucosa Gástrica/irrigação sanguínea , Isquemia/diagnóstico , Úlcera Gástrica/diagnóstico , Dor Abdominal/etiologia , Dor Abdominal/cirurgia , Idoso , Mucosa Gástrica/cirurgia , Humanos , Isquemia/complicações , Isquemia/cirurgia , Masculino , Úlcera Gástrica/complicações , Úlcera Gástrica/cirurgia
17.
W V Med J ; 104(6): 18-21, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-19006899

RESUMO

PURPOSE: The degree of sexual dysfunction in patients with Painful Bladder Syndrome (PBS) has not been documented previously. The Female Sexual Function Index (FSFI) was used to measure the degree of female sexual dysfunction (FSD) in these patients. MATERIALS AND METHODS: The FSFI was administered on-line to female patients with self-reported PBS. This 19-item questionnaire evaluated FSD in six domains: desire, arousal, lubrication, orgasm, satisfaction, and pain. RESULTS: The data was analyzed on an item-for-item basis and by the six domains of sexual dysfunction for 100 patients and compared to a control group of 131 healthy volunteers and a second group consisting of 128 patients with Female Sexual Arousal Disorder (FSAD). When compared with the controls, PBS patients self-report sexual dysfunction in all domains evaluated by the FSFI. CONCLUSIONS: The degree of FSD in PBS patients is significantly higher in all domains when compared to the control group.


Assuntos
Cistite Intersticial/complicações , Disfunções Sexuais Fisiológicas/complicações , Feminino , Humanos
18.
Mamm Genome ; 19(6): 382-9, 2008 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-18716833

RESUMO

Complex traits and disease comorbidity in humans and in model organisms are the result of naturally occurring polymorphisms that interact with each other and with the environment. To ensure the availability of resources needed to investigate biomolecular networks and systems-level phenotypes underlying complex traits, we have initiated breeding of a new genetic reference population of mice, the Collaborative Cross. This population has been designed to optimally support systems genetics analysis. Its novel and important features include a high level of genetic diversity, a large population size to ensure sufficient power in high-dimensional studies, and high mapping precision through accumulation of independent recombination events. Implementation of the Collaborative Cross has been ongoing at the Oak Ridge National Laboratory (ORNL) since May 2005. Production has been systematically managed using a software-assisted breeding program with fully traceable lineages, performed in a controlled environment. Currently, there are 650 lines in production, and close to 200 lines are now beyond their seventh generation of inbreeding. Retired breeders enter a high-throughput phenotyping protocol and DNA samples are banked for analyses of recombination history, allele drift and loss, and population structure. Herein we present a progress report of the Collaborative Cross breeding program at ORNL and a description of the kinds of investigations that this resource will support.


Assuntos
Bancos de Espécimes Biológicos , Cruzamentos Genéticos , Laboratórios , Camundongos Endogâmicos/genética , Desenvolvimento de Programas , Animais , Cruzamento , Feminino , Genótipo , Padrões de Herança , Tamanho da Ninhada de Vivíparos , Masculino , Camundongos , Fenótipo , Tennessee
19.
Can J Urol ; 15(4): 4158-62, 2008 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-18706142

RESUMO

INTRODUCTION/OBJECTIVE: The degree of sexual dysfunction in patients with painful bladder syndrome (PBS) across their lifespan has not been previously documented. MATERIAL AND METHODS: The Female Sexual Function Index (FSFI) is a research tool to measure the degree of clinical female sexual dysfunction (FSD). This 19-item questionnaire evaluates FSD in six domains: desire, arousal, lubrication, orgasm, satisfaction, and pain. This study used the FSFI with the additional variables of age, geographical location, and current medications. The participants were not blinded to the fact that this study was examining the link between PBS and FSD. Each question in the survey was targeted to a specific variable of FSD and the answers were rated on a Lickert scale. RESULTS: When compared with controls, PBS patients self-report significant sexual dysfunction in all domains evaluated by the FSFI (p < 0.001). Age-specific results were observed in regards to the domains of arousal, lubrication, and pain (p < 0.01). CONCLUSIONS: PBS patients report significant FSD in all domains when compared to controls (p < 0.001). Significant differences in the domains of arousal, lubrication, and pain exist between respondents < 30 years old and in those > 50 years of age. The extent of sexual dysfunction is worse in the areas of pain in each age group evaluated. Pain is the most significant finding in patients with FSD and PBS.


Assuntos
Cistite Intersticial/complicações , Disfunções Sexuais Fisiológicas/epidemiologia , Sexualidade/fisiologia , Adulto , Fatores Etários , Cistite Intersticial/fisiopatologia , Progressão da Doença , Feminino , Seguimentos , Humanos , Incidência , Pessoa de Meia-Idade , Qualidade de Vida , Fatores de Risco , Índice de Gravidade de Doença , Disfunções Sexuais Fisiológicas/etiologia , Disfunções Sexuais Fisiológicas/fisiopatologia , Inquéritos e Questionários
20.
Am J Med Genet A ; 146A(5): 601-9, 2008 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-18241066

RESUMO

Microdeletion and microduplication genetic syndromes are known to be a significant cause of developmental delay and dysmorphology. Utilizing high-resolution chromosome analysis, array CGH and SNP technologies we identified a novel genomic syndrome comprising of an interstitial duplication of approximately 1.61 Mb at the distal end of chromosome 3 band q29. The imbalance was present in five individuals in a three generation family with clinical features including mild to moderate mental retardation and microcephaly. The duplicated segment overlaps with and is the genomic counterpart of the recently described microdeletion of 3q29. Both syndromes are proposed to occur by non-allelic homologous recombination between regions of low copy repeats present around the breakpoints.


Assuntos
Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/genética , Cromossomos Humanos Par 3 , Deficiência Intelectual/genética , Adulto , Família , Feminino , Duplicação Gênica , Humanos , Hibridização in Situ Fluorescente , Lactente , Masculino , Microcefalia/genética , Pessoa de Meia-Idade , Linhagem , Polimorfismo de Nucleotídeo Único , Síndrome
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