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Articles 211 - 240 of 266
Full-Text Articles in Medicine and Health Sciences
The Cost Of Treating Pressure Ulcers Following Implementation Of A Research-Based Skin Care Protocol In A Long-Term Care Facility, Rita Frantz, S. Bergquist, Janet Specht
The Cost Of Treating Pressure Ulcers Following Implementation Of A Research-Based Skin Care Protocol In A Long-Term Care Facility, Rita Frantz, S. Bergquist, Janet Specht
Rita A. Frantz
Although concern for the costs associated with pressure ulcer treatments persists, studies that precisely quantify costs are limited. A retrospective research design was used to describe the costs incurred by an 830-bed, long-term care facility to treat 81 pressure ulcers over a one-year period following implementation of a research-based, skin care protocol. The total cost for the study period was $30,079 with 73% of these expenditures attributable to nursing care. Mean cost of treatment was $3.74/pressure ulcer/day, which was a reduction from the $5.35/pressure ulcer/day cost prior to implementation of the skin care protocol. These findings suggest that implementing a …
Communication, Encouragement, And Cancer Screening In Families With And Without Mutations For Hereditary Nonpolyposis Colorectal Cancer: A Pilot Study, Anne Ersig, Janet Williams, D. Hadley, L. Koehly
Communication, Encouragement, And Cancer Screening In Families With And Without Mutations For Hereditary Nonpolyposis Colorectal Cancer: A Pilot Study, Anne Ersig, Janet Williams, D. Hadley, L. Koehly
Anne L. Ersig
PURPOSE: Known and suspected mutation carriers for hereditary nonpolyposis colorectal cancer are advised to have colonoscopies every 1 to 2 years to detect colorectal cancer. Little is known about colonoscopy completion in families suspected of having hereditary nonpolyposis colorectal cancer but without identified mutations. METHODS: This study examined the effect of communication and encouragement on colonoscopy in families with and without known mutations. Twenty-three respondents from 11 families with indeterminate genetic test results were matched with 23 respondents from 11 families with mutation-positive results. Hierarchical modeling examined the effects of relational characteristics on time since last colonoscopy in index cases …
Explanations Of Risk In Families Without Identified Mutations For Hereditary Nonpolyposis Colorectal Cancer, Anne Ersig, Lioness Ayres, D. Hadley, L. Koehly
Explanations Of Risk In Families Without Identified Mutations For Hereditary Nonpolyposis Colorectal Cancer, Anne Ersig, Lioness Ayres, D. Hadley, L. Koehly
Anne L. Ersig
Purpose: Genetic testing for hereditary forms of cancer does not always identify a causative mutation. Little is known about personal or family response to these indeterminate results when a hereditary form of cancer is suspected. This study explored thoughts about and responses to risk for hereditary nonpolyposis colorectal cancer (HNPCC) when a family member has received indeterminate genetic test results. Design: In this qualitative study, data were gathered from index cases who received indeterminate genetic test results through a longitudinal study offering genetic counseling and testing for HNPCC. First-degree relatives of these indeterminate index cases were also invited to participate …
Risk For Acute Confusion In Sensory-Impaired, Rural, Long-Term-Care Elders, P. Cacchione, Kennith Culp, M. Dyck, J. Laing
Risk For Acute Confusion In Sensory-Impaired, Rural, Long-Term-Care Elders, P. Cacchione, Kennith Culp, M. Dyck, J. Laing
Kennith R. Culp
Acute confusion is a common geriatric syndrome in long-term care (LTC) elders with prevalence rates of 10% to 39%. Sensory impairment, specifically vision and hearing impairment, is even more common in LTC, with prevalence rates of 40% to 90%. The purpose of this study was to investigate the risk relationship between sensory impairment and the development of acute confusion in LTC elders. Each resident (N = 114) underwent sensory screening and then was followed for 28 days to monitor for the onset of acute confusion. Twenty residents (17.5%) developed acute confusion, 60 residents (52.6%) were found to be visually impaired, …
Hydration And Acute Confusion In Long-Term Care Residents... Including Commentary By Lindgren Cl And Mills Em With Author Response, Kennith Culp, J. Mentes, B. Wakefield
Hydration And Acute Confusion In Long-Term Care Residents... Including Commentary By Lindgren Cl And Mills Em With Author Response, Kennith Culp, J. Mentes, B. Wakefield
Kennith R. Culp
Although it is generally appropriate for a healthy adult to consume 2000 to 2500 ml per day, the literature does not address evaluating any standard. The objective here was to develop a weight-based hydration management intervention and evaluate the impact of this on the incidence of acute confusion (AC) using an N = 98. The intervention consisted of a fluid intake goal based on 100 ml per kg for the first 10 kg, 50 ml/kg for the next 10 kg, and 15 ml for the remaining body weight. The treatment group received instruction and assistance on the fluid goal and …
Geriatric Hemodialysis Patients: A Comparative Study Of Vascular Access... Including Commentary By Courts Nf And Mathers T, Kennith Culp, L. Taylor, P. Hulme
Geriatric Hemodialysis Patients: A Comparative Study Of Vascular Access... Including Commentary By Courts Nf And Mathers T, Kennith Culp, L. Taylor, P. Hulme
Kennith R. Culp
OBJECTIVES: To compare vascular access in hemodialysis patients >/= 65 years of age with those /= 65 years). DESIGN: A descriptive, longitudinal study with a 1-year follow-up period. METHODS: Following the placement of a permanent vascular access, information was collected by the dialysis nursing staff about the configuration of the access, needle gauge used for cannulation, dialysis prescriptions, diabetic status, and other comorbid disease conditions. Odds ratios (OR) for vascular access thrombosis (VAT) risk were calculate between the two age groups. RESULTS: Comparisons between the two age groups suggest a higher frequency of polytetrafluorethylene (PTFE) grafts in the >/= 65-year-old …
Using The Quetelet Body Mass Index As A Mortality Indicator For Patients Starting Renal Replacement Therapy... Including Commentary By Parker Kp With Author Response, Kennith Culp, M. Flanigan, J. Dudley, L. Taylor, T. Bissen, S. Garrison
Using The Quetelet Body Mass Index As A Mortality Indicator For Patients Starting Renal Replacement Therapy... Including Commentary By Parker Kp With Author Response, Kennith Culp, M. Flanigan, J. Dudley, L. Taylor, T. Bissen, S. Garrison
Kennith R. Culp
OBJECTIVE: The prupose of this study was to compare clinical profiles and mortality risk of patients starting renal replacement therapy (RRT) across three Quetelet body mass index (BMI) classifications: lean, normal, and obese. SAMPLE/SETTING: All patients applying for dialysis services using Health Care Financing Administration (HCRA) form 2728-U4 were sampled during the period of April 1, 1995 through June 30, 1995 in two end-stage renal disease (ESRD) Networks. These two ESRD networks encompassed 7 states and provided 846 patients for this analysis. DESIGN: A descriptive survival study was used with a follow-up period of 18 months. METHODS: The Quetelet BMI …
Risk Factors And Outcomes Associated With Hospital Admission For Dehydration, B. Wakefield, J. Mentes, J. Holman, Kennith Culp
Risk Factors And Outcomes Associated With Hospital Admission For Dehydration, B. Wakefield, J. Mentes, J. Holman, Kennith Culp
Kennith R. Culp
The hospital admission rate for dehydration is one of the Agency for Healthcare Research and Quality Prevention's Quality Indicators, which are considered screening tools for potential quality issues. Thus, admission for dehydration may reflect the quality of care provided in community settings. Using a case-control design, this study estimated the incidence, risk factors, and outcomes of dehydration in adults admitted to the hospital. The overall prevalence rate for three International Classification of Diseases codes for dehydration at admission was 0.55%. Cases and controls differed significantly on a number of clinical variables at admission, including weight, body mass index, pulse, blood …
Traumatic Injury Rates In Meatpacking Plant Workers, Kennith Culp, M. Brooks, Kerri Rupe, C. Zwerling
Traumatic Injury Rates In Meatpacking Plant Workers, Kennith Culp, M. Brooks, Kerri Rupe, C. Zwerling
Kennith R. Culp
This was a 3-year retrospective cohort study of traumatic injuries in a midwestern pork meatpacking plant. Based on n = 5410 workers, this was a diverse workforce: Caucasian (56.6%), Hispanic (38.9%), African American (2.7%), Asian (1.1%) and Native American (0.8%). There were n = 1655 employees with traumatic injuries during this period. At 6 months of employment, the probability of injury was 33% in the harvest workers who were responsible for slaughter operations. The overall incidence injury rate was 22.76 per 100 full-time employees per year. Women experienced a higher incidence for injury than men. The risk ratio (RR) for …
Civic Engagement As A Retirement Role For Aging Americans, B. Kaskie, S. Imhof, J. Cavanaugh, Kennith Culp
Civic Engagement As A Retirement Role For Aging Americans, B. Kaskie, S. Imhof, J. Cavanaugh, Kennith Culp
Kennith R. Culp
No abstract provided.
Agricultural-Related Injury And Illness In The Gambia: A Descriptive Survey Of A Rural Nursing Service And Area Farmers, Kennith Culp, R. Kuye, K. Donham, R. Rautiainen, M. Umbarger-Mackey, S. Marquez
Agricultural-Related Injury And Illness In The Gambia: A Descriptive Survey Of A Rural Nursing Service And Area Farmers, Kennith Culp, R. Kuye, K. Donham, R. Rautiainen, M. Umbarger-Mackey, S. Marquez
Kennith R. Culp
This is an exploratory, descriptive study based on a convenience sample from a rural nursing service and in-country area farmers from The Gambia. The purpose of the study was to provide descriptive information about agricultural-related injury and illness from area farmers and to obtain data from rural nurses about the time they spent caring for and treating farmers. Employees of the nursing service could read and write English fluently and thus completed a written questionnaire; the area farmers were unable to read and write English so they were interviewed by farm extension workers in their own tribal language. The most …
Pesticide Handling And Exposures Among Cotton Farmers In The Gambia, R. Kuye, K. Donham, S. Marquez, W. Sanderson, L. Fuortes, R. Rautiainen, M. Jones, Kennith Culp
Pesticide Handling And Exposures Among Cotton Farmers In The Gambia, R. Kuye, K. Donham, S. Marquez, W. Sanderson, L. Fuortes, R. Rautiainen, M. Jones, Kennith Culp
Kennith R. Culp
Objectives: There are substantial health hazards to farmers and the environment associated with pesticide use in developing countries. Based on observations by the authors and previous reports, most previous studies in Africa are descriptive in nature. The aim of this study was to investigate how cotton farmers are exposed to pesticides in The Gambia and quantify their pesticide exposures and provide information for the formulation of a policy on pesticide safety for the country. Methods: A representative sample of 20 cotton farmers in the Central and Upper River Divisions (CRD and URD) of The Gambia were surveyed by questionnaires. Dermal …
Comparing The Geriatric Depression Scale, Minimum Data Set, And Primary Care Provider Diagnosis For Depression In Rural Nursing Home Residents, C. Kerber, M. Dyck, Kennith Culp, Kathleen Buckwalter
Comparing The Geriatric Depression Scale, Minimum Data Set, And Primary Care Provider Diagnosis For Depression In Rural Nursing Home Residents, C. Kerber, M. Dyck, Kennith Culp, Kathleen Buckwalter
Kennith R. Culp
BACKGROUND: Depression has a substantial negative impact on quality of life. Underdiagnosis and undertreatment of depression are major problems in nursing home residents. OBJECTIVES: This study sought to determine the prevalence of depression among older adults in nursing homes in rural Iowa using the Geriatric Depression Scale (GDS), Minimum Data Set (MDS), and primary care provider (PCP) depression diagnosis. DESIGN: This is a secondary analysis of data collected from 279 randomly selected residents of nursing homes in rural Iowa. RESULTS: The prevalence of depression based on the GDS (score of 6 or greater) was 37.3%, the MDS was 21.3%, and …
Reducing Hydration-Linked Events In Nursing Home Residents... Including Commentary By Godkin D, J. Mentes, Kennith Culp
Reducing Hydration-Linked Events In Nursing Home Residents... Including Commentary By Godkin D, J. Mentes, Kennith Culp
Kennith R. Culp
The authors used a quasi-experimental treatment and control group design with 49 participants from four nursing homes to test the effectiveness of an 8-week hydration intervention in reducing hydration-linked events (HLEs). A Kaplan Meier survival curve with log rank test was calculated to determine incidence and time to occurrence of a HLE. Incidence of and time to a HLE did not differ between the treatment and control groups over an 8-week period (p > .05). However, treatment group participants were found to be more frail, more cognitively impaired and more at risk for acute confusion than the control group participants. Although …
Renal Osteodystrophy In Older Adults With End-Stage Renal Disease, C. Roth, Kennith Culp
Renal Osteodystrophy In Older Adults With End-Stage Renal Disease, C. Roth, Kennith Culp
Kennith R. Culp
No abstract provided.
Acute Confusion Indicators: Risk Factors And Prevalence Using Mds Data, J. Mentes, Kennith Culp, Meridean Maas, M. Rantz
Acute Confusion Indicators: Risk Factors And Prevalence Using Mds Data, J. Mentes, Kennith Culp, Meridean Maas, M. Rantz
Kennith R. Culp
OBJECTIVE: The purpose of this study was to use Minimum Data Set (MDS) data from LTC (long-term care) in one Midwestern state to test whether risk variables derived from a conceptual model developed from findings in acute care predicted acute confusion in long-term care residents. DESIGN: Cross-sectional. SETTING: MDS nursing home records. POPULATION: The sample was composed predominantly of women (n = 1,775). INTERVENTIONS: The 1995 MIS annual reviews of nursing home residents from a Midwestern state provided the data for analysis; however missing data, on the average about 10% for the acute confusion/delirium indicators, reduced the sample to 2,318. …
Use Of A Urine Color Chart To Monitor Hydration Status In Nursing Home Residents, J. Mentes, B. Wakefield, Kennith Culp
Use Of A Urine Color Chart To Monitor Hydration Status In Nursing Home Residents, J. Mentes, B. Wakefield, Kennith Culp
Kennith R. Culp
To determine whether urine color, as measured by a color chart, might be a valid indicator of hydration status in frail nursing home residents, this study tested the associations between urine color and urine specific gravity. This is a descriptive correlational study set in seven nursing homes in eastern Iowa. Ninety-eight nursing home residents > or =65 years of age participated. Exclusion criteria for the study included: unstable congestive heart failure or diabetes, documented renal disease, hyponatremia (serum sodium or =50 ml/min) had significant associations between average urine color and average Usg. Females with mild renal impairment (CrCl between 30 and …
Screening For Acute Confusion In Elderly Long-Term Care Residents, Kennith Culp, Toni Tripp-Reimer, K. Wadle, B. Wakefield, J. Akins, Paula Mobily, M. Kundradt
Screening For Acute Confusion In Elderly Long-Term Care Residents, Kennith Culp, Toni Tripp-Reimer, K. Wadle, B. Wakefield, J. Akins, Paula Mobily, M. Kundradt
Kennith R. Culp
While acute confusion (AC) is frequently studied in the hospitalized elderly population, this phenomena has been largely ignored in elders who are residents in long-term care (LTC) facilities. The purpose of this study was to estimate the prevalence of AC in older LTC residents, the antecedent conditions present at the time of the AC event and the recognition rate of AC when assessed by staff nurses in two LTC facilities. This is a descriptive, longitudinal study with a 14 day follow-up period which incorporates a screening algorithm using AC instruments with established psychometric properties. A behavioral symptom instrument was also …
Antidepressant Treatment Of Depression In Rural Nursing Home Residents, C. Kerber, M. Dyck, Kennith Culp, Kathleen Buckwalter
Antidepressant Treatment Of Depression In Rural Nursing Home Residents, C. Kerber, M. Dyck, Kennith Culp, Kathleen Buckwalter
Kennith R. Culp
Under-diagnosis and under-treatment of depression are major problems in nursing home residents. The purpose of this study was to determine antidepressant use among nursing home residents who were diagnosed with depression using three different methods: (1) the Geriatric Depression Scale, (2) Minimum Data Set, and (3) primary care provider assessments. As one would expect, the odds of being treated with an antidepressant were about eight times higher for those diagnosed as depressed by the primary care provider compared to the Geriatric Depression Scale or the Minimum Data Set. Men were less likely to be diagnosed and treated with antidepressants by …
Modeling Mortality Risk In Hemodialysis Patients Using Laboratory Values As Time-Dependent Covariates, Kennith Culp, M. Flanigan, E. Lowrie, N. Lew, B. Zimmerman
Modeling Mortality Risk In Hemodialysis Patients Using Laboratory Values As Time-Dependent Covariates, Kennith Culp, M. Flanigan, E. Lowrie, N. Lew, B. Zimmerman
Kennith R. Culp
Proportional hazards analyses assume that the magnitude of mortality risk for a predictor variable remains proportional over time. In a time-dependent model, the explanatory variable violates this assumption, and repeat observations are required to accommodate the change in risk that occurs over time. Using a retrospective cohort design, we tested the following laboratory values for a time-by-covariate interaction: hematocrit (HCT), serum albumin (ALB), and serum creatinine (CR). A random sample of 4,083 hemodialysis patients whose specimens were analyzed in a central laboratory over a 3-year period served as the study group. Using the baseline observation, we discovered significant probability values …
Postadmission Dehydration: Risk Factors, Indicators, And Outcomes, B. Wakefield, J. Mentes, J. Holman, Kennith Culp
Postadmission Dehydration: Risk Factors, Indicators, And Outcomes, B. Wakefield, J. Mentes, J. Holman, Kennith Culp
Kennith R. Culp
Detecting and treating dehydration in hospitalized patients is critical because of the adverse outcomes associated with this condition. Using a case-control design, this study estimated the incidence, risk factors, and outcomes of dehydration in hospitalized adults. The overall incidence rate for developing one of three ICD-9 codes for dehydration during a hospital stay was 3.5%. Cases and controls differed significantly on a number of clinical variables on admission; a large percentage of patients may have had dehydration on admission to the hospital. Mortality rates at 30 and 180 days postdischarge were significantly higher when dehydration was present. Patients may be …
Clinical Profile Of Acute Confusion In The Long-Term Care Setting, P. Cacchione, Kennith Culp, J. Laing, Toni Tripp-Reimer
Clinical Profile Of Acute Confusion In The Long-Term Care Setting, P. Cacchione, Kennith Culp, J. Laing, Toni Tripp-Reimer
Kennith R. Culp
Aspects of acute confusion (AC) including risk factors, behavior patterns, and outcomes are not well documented in long-term care (LTC) residents. The purpose of this prospective study was to describe the clinical profile of AC in LTC including risk factors, behavior patterns, etiologies, and 3-month outcomes. Seventy-four elderly LTC residents were assessed for AC, depression, and global cognitive impairment. Risk factors associated with AC included hearing deficits, depression, pulmonary disorders, and abnormal serum sodium or potassium levels. Behavior patterns of acutely confused residents included hyperactive (n = 9, 31%), hypoactive (n = 8, 28%), and mixed (n = 7, 24%). …
Monitoring Hydration Status In Elderly Veterans, B. Wakefield, J. Mentes, L. Diggelmann, Kennith Culp
Monitoring Hydration Status In Elderly Veterans, B. Wakefield, J. Mentes, L. Diggelmann, Kennith Culp
Kennith R. Culp
Dehydration is a common water and electrolyte disorder in long-term care residents. Practical methods to detect and monitor dehydration are needed. This study determined whether urine color measured by a urine color chart reflects hydration status. The study employed a repeated measures design with two observations during a 10-hour period. Urine color was compared to the criterion standard of urine specific gravity and osmolality. The sample included 89 participants from two Veterans' Affairs facilities. Urine color was graded on an eight-level color chart. Urine specific gravity and osmolality, serum sodium and osmolality, hematocrit, blood urea nitrogen (BUN), and creatinine were …
An Epidemiologic Analysis Of Pain In The Elderly: The Iowa 65+ Rural Health Study, Paula Mobily, Keela Herr, M. Clark, R. Wallace
An Epidemiologic Analysis Of Pain In The Elderly: The Iowa 65+ Rural Health Study, Paula Mobily, Keela Herr, M. Clark, R. Wallace
M. Kathleen Clark
No abstract provided.
Prevalence And Nonrandom Distribution Of Exonic Mutations In Interferon Regulatory Factor 6 In 307 Families With Van Der Woude Syndrome And 37 Families With Popliteal Pterygium Syndrome, R. De Lima, S. Hoper, M. Ghassibe, M. Cooper, N. Rorick, S. Kondo, L. Katz, M. Marazita, J. Compton, S. Bale, U. Hehr, M. Dixon, Sandra Daack-Hirsch, O. Boute, B. Bayet, N. Revencu, C. Verellen-Dumoulin, M. Vikkula, A. Richieri-Costa, D. Moretti-Ferreira, J. Murray, B. Schutte
Prevalence And Nonrandom Distribution Of Exonic Mutations In Interferon Regulatory Factor 6 In 307 Families With Van Der Woude Syndrome And 37 Families With Popliteal Pterygium Syndrome, R. De Lima, S. Hoper, M. Ghassibe, M. Cooper, N. Rorick, S. Kondo, L. Katz, M. Marazita, J. Compton, S. Bale, U. Hehr, M. Dixon, Sandra Daack-Hirsch, O. Boute, B. Bayet, N. Revencu, C. Verellen-Dumoulin, M. Vikkula, A. Richieri-Costa, D. Moretti-Ferreira, J. Murray, B. Schutte
Sandra Daack-Hirsch
PURPOSE: Interferon regulatory factor 6 encodes a member of the IRF family of transcription factors. Mutations in interferon regulatory factor 6 cause Van der Woude and popliteal pterygium syndrome, two related orofacial clefting disorders. Here, we compared and contrasted the frequency and distribution of exonic mutations in interferon regulatory factor 6 between two large geographically distinct collections of families with Van der Woude and between one collection of families with popliteal pterygium syndrome. METHODS: We performed direct sequence analysis of interferon regulatory factor 6 exons on samples from three collections, two with Van der Woude and one with popliteal pterygium …
Targeted Scan Of Fifteen Regions For Nonsyndromic Cleft Lip And Palate In Filipino Families, R. Schultz, M. Cooper, Sandra Daack-Hirsch, M. Shi, B. Nepomucena, K. Graf, E. O'Brien, S. O'Brien, M. Marazita, J. Murray
Targeted Scan Of Fifteen Regions For Nonsyndromic Cleft Lip And Palate In Filipino Families, R. Schultz, M. Cooper, Sandra Daack-Hirsch, M. Shi, B. Nepomucena, K. Graf, E. O'Brien, S. O'Brien, M. Marazita, J. Murray
Sandra Daack-Hirsch
Cleft lip with or without cleft palate (CL/P) is a congenital anomaly with variable birth prevalence based on geographic origins, with the highest rates commonly found in Asian populations. About 70% of cases are nonsyndromic (NS), in which the affected individual has no other abnormalities. NS CL/P is a complex disorder with genetic and environmental effects and no specific genetic loci yet confirmed. Fifteen candidate regions were examined for linkage to NS CL/P. Regions were chosen based on previous suggestive linkage and/or association in human families, or suggestive animal model data. Polymorphic markers in these regions were genotyped for analysis …
Exclusion Of The Branchio-Oto-Renal Syndrome Locus (Eya1) From Patients With Branchio-Oculo-Facial Syndrome, A. Lin, E. Semina, Sandra Daack-Hirsch, E. Roeder, C. Curry, K. Rosenbaum, D. Weaver, J. Murray
Exclusion Of The Branchio-Oto-Renal Syndrome Locus (Eya1) From Patients With Branchio-Oculo-Facial Syndrome, A. Lin, E. Semina, Sandra Daack-Hirsch, E. Roeder, C. Curry, K. Rosenbaum, D. Weaver, J. Murray
Sandra Daack-Hirsch
In addition to craniofacial, auricular, ophthalmologic, and oral anomalies, the distinctive phenotype of the branchio-oculo-facial (BOF) syndrome (MIM 113620) includes skin defects in the neck or infra/supra-auricular region. These unusual areas of thin, erythematous wrinkled skin differ from the discrete cervical pits, cysts, and fistulas of the branchio-oto-renal (BOR) syndrome (MIM 113650). Although the BOF and BOR syndromes are sufficiently distinctive that they should not be confused, both can be associated with nasolacrimal duct stenosis, deafness, prehelical pits, malformed pinna, and renal anomalies. Furthermore, a reported father and son [Legius et al., 1990, Clin Genet 37:347-500] had features of both …
Dermatoglyphic Pattern Types In Subjects With Nonsyndromic Cleft Lip With Or Without Cleft Palate (Cl/P) And Their Unaffected Relatives In The Philippines, N. Scott, S. Weinberg, K. Neiswanger, Sandra Daack-Hirsch, S. O'Brien, J. Murray, M. Marazita
Dermatoglyphic Pattern Types In Subjects With Nonsyndromic Cleft Lip With Or Without Cleft Palate (Cl/P) And Their Unaffected Relatives In The Philippines, N. Scott, S. Weinberg, K. Neiswanger, Sandra Daack-Hirsch, S. O'Brien, J. Murray, M. Marazita
Sandra Daack-Hirsch
OBJECTIVE: To investigate dermatoglyphic patterns in 95 nonsyndromic Filipino subjects with nonsyndromic cleft lip with or without cleft palate (CL/P) and 90 of their unaffected relatives. DESIGN: Retrospective study of dermatoglyphic pattern types. SETTING: Negros Occidental and Cavite in the Philippines. PARTICIPANTS: Nonsyndromic subjects with CL/P and their unaffected relatives. METHODS: Dermatoglyphic patterns were categorized as arch, ulnar loop, radial loop, whorl, or other by three independent raters. Pattern data from the subjects, the unaffected relatives, and an unaffected control population (from the literature) were compared using chi-square tests. As a measure of asymmetry, dissimilarity between pattern types on homologous …
Genetic Determinants Of Facial Clefting: Analysis Of 357 Candidate Genes Using Two National Cleft Studies From Scandinavia, A. Jugessur, M. Shi, H. K. Gjessing, R. T. Lie, A. J. Wilcox, C. R. Weinberg, K. Christensen, A. L. Boyles, Sandra Daack-Hirsch, T. N. Trung, C. Bille, A. C. Lidral, J. C. Murray
Genetic Determinants Of Facial Clefting: Analysis Of 357 Candidate Genes Using Two National Cleft Studies From Scandinavia, A. Jugessur, M. Shi, H. K. Gjessing, R. T. Lie, A. J. Wilcox, C. R. Weinberg, K. Christensen, A. L. Boyles, Sandra Daack-Hirsch, T. N. Trung, C. Bille, A. C. Lidral, J. C. Murray
Sandra Daack-Hirsch
BACKGROUND: Facial clefts are common birth defects with a strong genetic component. To identify fetal genetic risk factors for clefting, 1536 SNPs in 357 candidate genes were genotyped in two population-based samples from Scandinavia (Norway: 562 case-parent and 592 control-parent triads; Denmark: 235 case-parent triads). METHODOLOGY/PRINCIPAL FINDINGS: We used two complementary statistical methods, TRIMM and HAPLIN, to look for associations across these two national samples. TRIMM tests for association in each gene by using multi-SNP genotypes from case-parent triads directly without the need to infer haplotypes. HAPLIN on the other hand estimates the full haplotype distribution over a set of …
Impaired Fgf Signaling Contributes To Cleft Lip And Palate, B. Riley, M. Mansilla, J. Ma, Sandra Daack-Hirsch, B. Maher, L. Raffensperger, E. Russo, A. Vieira, C. Dode, M. Mohammadi, M. Marazita, J. Murray
Impaired Fgf Signaling Contributes To Cleft Lip And Palate, B. Riley, M. Mansilla, J. Ma, Sandra Daack-Hirsch, B. Maher, L. Raffensperger, E. Russo, A. Vieira, C. Dode, M. Mohammadi, M. Marazita, J. Murray
Sandra Daack-Hirsch
Nonsyndromic cleft lip and palate (NS CLP) is a complex birth defect resulting from a combination of genetic and environmental factors. Several members of the FGF and FGFR families are expressed during craniofacial development and can rarely harbor mutations that result in human clefting syndromes. We hypothesized that disruptions in this pathway might also contribute to NS CLP. We sequenced the coding regions and performed association testing on 12 genes (FGFR1, FGFR2, FGFR3, FGF2, FGF3, FGF4, FGF7, FGF8, FGF9, FGF10, FGF18, and NUDT6) and used protein structure analyses to predict the function of amino acid variants. Seven likely disease-causing mutations …