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3.
Pain Med ; 21(10): 2518-2528, 2020 10 01.
Article in English | MEDLINE | ID: mdl-32556309

ABSTRACT

OBJECTIVE: To determine the effectiveness of platelet-rich plasma (PRP) and bone marrow aspirate concentrate (BMAC) for the treatment of suspected sacroiliac joint complex (SIJC) pain. DESIGN: Systematic review. SUBJECTS: Persons aged ≥18 with suspected SIJC pain. COMPARISON: Sham, placebo procedure, or active standard of care treatment. OUTCOMES: The primary outcome was ≥50% pain improvement, and the secondary outcome was functional improvement of ≥30% at three or more months after the treatment intervention. METHODS: Publications in PubMed, MEDLINE, Embase, Scopus, and Cochrane Databases were reviewed up to April 3, 2019. Randomized or nonrandomized comparative studies and nonrandomized studies without internal controls were included. The Grades of Recommendation, Assessment, Development, and Evaluation system and the joint consensus American Academy of Orthopedic Surgery/National Institutes of Health recommendations were used for quality assessment and reporting standards. RESULTS: Query identified 151 publications; three were appropriate for inclusion. There were no studies of BMAC that met inclusion criteria. There were three eligible PRP studies: one randomized comparative trial (RCT) and two case series. In the single RCT comparing ultrasound-guided PRP with corticosteroid injection for suspected SIJC pain, the PRP group had a significantly increased likelihood of achieving ≥50% improvement of pain at three months (adjusted odds ratio = 37, 95% confidence interval [CI] = 4.65-298.69). Pooled pain outcomes from two studies showed that 28/30, 93% (95% CI = 93-100%), experienced ≥50% pain improvement at three months. CONCLUSIONS: The literature supporting the effectiveness of PRP for SIJC pain is very low-quality according to the GRADE system. Well-designed RCTs and large cohort studies with consistent selection protocols and reporting characteristics are needed to determine the effectiveness of PRP and BMAC for the treatment of SIJC pain.


Subject(s)
Platelet-Rich Plasma , Sacroiliac Joint , Aged , Arthralgia/diagnosis , Arthralgia/therapy , Back Pain , Humans , Pelvic Pain , Sacroiliac Joint/diagnostic imaging
4.
Pain Med ; 21(1): 41-54, 2020 01 01.
Article in English | MEDLINE | ID: mdl-31181148

ABSTRACT

OBJECTIVE: Determine the effectiveness of fluoroscopically guided cervical transforaminal epidural steroid injection (CTFESI) for the treatment of radicular pain. DESIGN: Systematic review and meta-analysis. SUBJECTS: Persons aged ≥18 years with cervical radicular pain due to disc herniation or degenerative spondylosis. COMPARISON: Sham, placebo procedure, or active standard of care treatment, excluding alternative versions of epidural steroid injection. OUTCOMES: The primary outcome measure was patient-reported improvement in pain of at least 50% from baseline, assessed four or more weeks after the treatment intervention. Secondary outcomes included validated functional assessment tools and avoidance of spinal surgery. METHODS: Randomized or nonrandomized comparative studies and nonrandomized studies without internal control were included. Three reviewers independently assessed publications in the Medline, PubMed, and Cochrane databases up to July 2018. The Grades of Recommendation, Assessment, Development and Evaluation (GRADE) system was used to evaluate risk of bias and overall quality of evidence. A meta-analysis was conducted for comparative measures of effect and for within-group response rates if applicable. RESULTS: There were no studies with an internal comparison group (control group) meeting the review's definition of comparison group. Therefore, comparative measures of effect were not calculated. In cohort studies, pooled response rates were 48% (95% confidence interval [CI] = 34-61%) at one month and 55% (95% CI = 45-64%) at three months. CONCLUSIONS: Approximately 50% of patients experience ≥50% pain reduction at short- and intermediate-term follow-up after CTFESI. However, the literature is very low quality according the GRADE criteria, primarily due to a lack of studies with placebo/sham or active standard of care control comparison groups.


Subject(s)
Adrenal Cortex Hormones/administration & dosage , Injections, Epidural/methods , Neuralgia/drug therapy , Radiculopathy/drug therapy , Radiography, Interventional/methods , Cervical Vertebrae , Fluoroscopy/methods , Humans , Intervertebral Disc Displacement/complications , Neuralgia/etiology , Pain Management/methods , Radiculopathy/etiology , Spondylosis/complications , Treatment Outcome
8.
J Vasc Surg ; 65(1): 162-171.e3, 2017 Jan.
Article in English | MEDLINE | ID: mdl-27751738

ABSTRACT

OBJECTIVE: The objective of this study was the development of AMPREDICT-Mobility, a tool to predict the probability of independence in either basic or advanced (iBASIC or iADVANCED) mobility 1 year after dysvascular major lower extremity amputation. METHODS: Two prospective cohort studies during consecutive 4-year periods (2005-2009 and 2010-2014) were conducted at seven medical centers. Multiple demographic and biopsychosocial predictors were collected in the periamputation period among individuals undergoing their first major amputation because of complications of peripheral arterial disease or diabetes. The primary outcomes were iBASIC and iADVANCED mobility, as measured by the Locomotor Capabilities Index. Combined data from both studies were used for model development and internal validation. Backwards stepwise logistic regression was used to develop the final prediction models. The discrimination and calibration of each model were assessed. Internal validity of each model was assessed with bootstrap sampling. RESULTS: Twelve-month follow-up was reached by 157 of 200 (79%) participants. Among these, 54 (34%) did not achieve iBASIC mobility, 103 (66%) achieved at least iBASIC mobility, and 51 (32%) also achieved iADVANCED mobility. Predictive factors associated with reduced odds of achieving iBASIC mobility were increasing age, chronic obstructive pulmonary disease, dialysis, diabetes, prior history of treatment for depression or anxiety, and very poor to fair self-rated health. Those who were white, were married, and had at least a high-school degree had a higher probability of achieving iBASIC mobility. The odds of achieving iBASIC mobility increased with increasing body mass index up to 30 kg/m2 and decreased with increasing body mass index thereafter. The prediction model of iADVANCED mobility included the same predictors with the exception of diabetes, chronic obstructive pulmonary disease, and education level. Both models showed strong discrimination with C statistics of 0.85 and 0.82, respectively. The mean difference in predicted probabilities for those who did and did not achieve iBASIC and iADVANCED mobility was 33% and 29%, respectively. Tests for calibration and observed vs predicted plots suggested good fit for both models; however, the precision of the estimates of the predicted probabilities was modest. Internal validation through bootstrapping demonstrated some overoptimism of the original model development, with the optimism-adjusted C statistic for iBASIC and iADVANCED mobility being 0.74 and 0.71, respectively, and the discrimination slope 19% and 16%, respectively. CONCLUSIONS: AMPREDICT-Mobility is a user-friendly prediction tool that can inform the patient undergoing a dysvascular amputation and the patient's provider about the probability of independence in either basic or advanced mobility at each major lower extremity amputation level.


Subject(s)
Amputation, Surgical/adverse effects , Decision Support Techniques , Independent Living , Locomotion , Lower Extremity/blood supply , Mobility Limitation , Peripheral Vascular Diseases/surgery , Aged , Chi-Square Distribution , Disability Evaluation , Female , Humans , Logistic Models , Male , Middle Aged , Odds Ratio , Patient Selection , Peripheral Vascular Diseases/diagnosis , Peripheral Vascular Diseases/physiopathology , Predictive Value of Tests , Prospective Studies , Recovery of Function , Reproducibility of Results , Risk Assessment , Risk Factors , Time Factors , Treatment Outcome , United States
9.
Am J Trop Med Hyg ; 85(5): 913-8, 2011 Nov.
Article in English | MEDLINE | ID: mdl-22049049

ABSTRACT

Anemia is a significant health concern worldwide and can be the result of nutritional, environmental, social, and infectious etiologies. We estimated the prevalence of anemia in 336 pre-school children and 132 adults in the rural Central Plateau of Haiti and assessed associations with age, sex, household size, water source, sanitation, and Helicobacter pylori seroreactivity using logistic regression analysis; 80.1% (269/336) of children and 63.6% (84/132) of adults were anemic. Among children, younger age was associated with increased prevalence of anemia (adjusted odds ratio [aOR] = 4.1, 95% confidence interval [CI] = 1.5-11.1 for children 6-11 months compared with children 48-59 months). Among adults, 50.8% were H. pylori-seropositive, and seropositivity was inversely associated with anemia (aOR = 0.4, 95% CI = 0.2-0.9). Anemia prevalence in this region of Haiti is very high and not attributable to sanitary conditions or a high prevalence of H. pylori infection.


Subject(s)
Anemia/epidemiology , Anemia/etiology , Helicobacter Infections/blood , Helicobacter Infections/complications , Helicobacter pylori , Adolescent , Adult , Aged , Antibodies, Bacterial/blood , Child, Preschool , Cross-Sectional Studies , Female , Haiti/epidemiology , Helicobacter Infections/epidemiology , Helicobacter pylori/immunology , Humans , Infant , Male , Middle Aged , Odds Ratio , Prevalence , Rural Population , Young Adult
10.
Ann Hum Biol ; 36(3): 261-80, 2009.
Article in English | MEDLINE | ID: mdl-19381985

ABSTRACT

BACKGROUND: The causes of ethnic and caste-based disparities in mental health are poorly understood. AIM: The study aimed to identify mediators underlying caste-based disparities in mental health in Nepal. SUBJECTS AND METHODS: A mixed methods ethnographic and epidemiological study of 307 adults (Dalit/Nepali, n=75; high caste Brahman and Chhetri, n=232) was assessed with Nepali versions of Beck Depression (BDI) and Anxiety (BAI) Inventories. RESULTS: One-third (33.7%) of participants were classified as depressed: Dalit/Nepali 50.0%, high caste 28.4%. One quarter (27.7%) of participants were classified as anxious: Dalit/Nepali 50.7%, high caste 20.3%. Ethnographic research identified four potential mediators: Stressful life events, owning few livestock, no household income, and lack of social support. The direct effect of caste was 1.08 (95% CI -1.10-3.27) on depression score and 4.76 (95% CI 2.33-7.19) on anxiety score. All four variables had significant indirect (mediation) effects on anxiety, and all but social support had significant indirect effects on depression. CONCLUSION: Caste-based disparities in mental health in rural Nepal are statistically mediated by poverty, lack of social support, and stressful life events. Interventions should target these areas to alleviate the excess mental health burden born by Dalit/Nepali women and men.


Subject(s)
Anthropology, Cultural/methods , Anxiety/epidemiology , Depression/epidemiology , Models, Psychological , Social Class , Adult , Age Factors , Animal Husbandry , Anxiety/psychology , Confounding Factors, Epidemiologic , Cross-Sectional Studies , Depression/psychology , Female , Humans , Life Change Events , Male , Marriage , Nepal/epidemiology , Personality Inventory , Poverty , Psychological Tests , Risk Factors , Sex Factors , Social Support , Socioeconomic Factors , Stress, Psychological/epidemiology , Stress, Psychological/psychology
11.
Semin Dial ; 21(5): 483-9, 2008.
Article in English | MEDLINE | ID: mdl-18764794

ABSTRACT

The arteriovenous fistula (AVF) is the recommended form of dialysis vascular access, however, limited studies suggest that AVF creation may result in increased cardiovascular stress and remodeling. To explore the contribution of vascular access type to cardiovascular-related (CV) mortality, we analyzed USRDS Clinical Performance Measures data comprising 4854 patients that initiated dialysis between October 1, 1999-December 31, 2004. CV mortality included death from acute myocardial infarction, atherosclerotic heart disease, cardiomyopathy, arrhythmia, cardiac arrest or stroke. Risk of cardiovascular mortality during a 4-year observation was analyzed by Cox-regression methods with adjustments for demographic and co-morbid conditions. AVF use was strongly associated with lower all-cause and CV mortality. After adjustment for covariates, AVF use 90 days after dialysis initiation remained significantly associated with lower cardiovascular mortality [hazard ratio (HR) 0.69, p = 0.0004] compared with catheter use. These findings suggest that vascular access type influences cause-specific mortality beyond that of infection, and support existing guidelines recommending the use of an AVF early in the course of chronic end-stage renal disease therapy.


Subject(s)
Arteriovenous Shunt, Surgical/adverse effects , Cardiovascular Diseases/mortality , Catheterization, Central Venous/adverse effects , Kidney Failure, Chronic/therapy , Renal Dialysis , Aged , Catheters, Indwelling , Cohort Studies , Female , Humans , Kidney Failure, Chronic/complications , Kidney Failure, Chronic/mortality , Male , Middle Aged , Retrospective Studies , Risk Factors
12.
JAMA ; 300(6): 691-702, 2008 Aug 13.
Article in English | MEDLINE | ID: mdl-18698067

ABSTRACT

CONTEXT: Former child soldiers are considered in need of special mental health interventions. However, there is a lack of studies investigating the mental health of child soldiers compared with civilian children in armed conflicts. OBJECTIVE: To compare the mental health status of former child soldiers with that of children who have never been conscripts of armed groups. DESIGN, SETTING, AND PARTICIPANTS: Cross-sectional cohort study conducted in March and April 2007 in Nepal comparing the mental health of 141 former child soldiers and 141 never-conscripted children matched on age, sex, education, and ethnicity. MAIN OUTCOME MEASURES: Depression symptoms were assessed via the Depression Self Rating Scale, anxiety symptoms via the Screen for Child Anxiety Related Emotional Disorders, symptoms of posttraumatic stress disorder (PTSD) via the Child PTSD Symptom Scale, general psychological difficulties via the Strength and Difficulties Questionnaire, daily functioning via the Function Impairment tool, and exposure to traumatic events via the PTSD Traumatic Event Checklist of the Kiddie Schedule of Affective Disorders and Schizophrenia. RESULTS: Participants were a mean of 15.75 years old at the time of this study, and former child soldiers ranged in age from 5 to 16 years at the time of conscription. All participants experienced at least 1 type of trauma. The numbers of former child soldiers meeting symptom cutoff scores were 75 (53.2%) for depression, 65 (46.1%) for anxiety, 78 (55.3%) for PTSD, 55 (39.0%) for psychological difficulties, and 88 (62.4%) for function impairment. After adjusting for traumatic exposures and other covariates, former soldier status was significantly associated with depression (odds ratio [OR], 2.41; 95% confidence interval [CI], 1.31-4.44) and PTSD among girls (OR, 6.80; 95% CI, 2.16-21.58), and PTSD among boys (OR, 3.81; 95% CI, 1.06-13.73) but was not associated with general psychological difficulties (OR, 2.08; 95% CI, 0.86-5.02), anxiety (OR, 1.63; 95% CI, 0.77-3.45), or function impairment (OR, 1.34; 95% CI, 0.84-2.14). CONCLUSION: In Nepal, former child soldiers display greater severity of mental health problems compared with children never conscripted by armed groups, and this difference remains for depression and PTSD (the latter especially among girls) even after controlling for trauma exposure.


Subject(s)
Health Status , Mental Health , Military Personnel/psychology , Stress Disorders, Post-Traumatic/epidemiology , Warfare , Adolescent , Child , Child Welfare , Cohort Studies , Combat Disorders/epidemiology , Cross-Sectional Studies , Female , Humans , Male , Nepal/epidemiology , Psychiatric Status Rating Scales , Veterans/psychology
13.
Semin Dial ; 21(4): 346-51, 2008.
Article in English | MEDLINE | ID: mdl-18564968

ABSTRACT

Central venous catheter (CVC) use at hemodialysis (HD) initiation remains high, despite reports of CVC-associated morbidity and mortality, and efforts at early arteriovenous fistula placement. In order to determine predictors of CVC use at the start of HD, data from the end-stage renal disease (ESRD) Clinical Performance Measures (CPM) Project was linked to the Centers for Medicare & Medicaid Services Medical Evidence (2728) Form. Of the 4071 incident hemodialysis patients in study years 1999-2003, 71.6% used a CVC at dialysis initiation. After controlling for demographic and co-morbid variables, patients with a CVC were 24% more likely to be female (p = 0.006), and 38% more likely to have ischemic heart disease (p = 0.002), while those with obesity (BMI > or = 30) were 24% less likely to start dialysis with a CVC (p = 0.006). Pre-ESRD hypoalbuminemia (< 3.5 g/dl) was associated with a twofold higher risk of CVC use (p = < 0.001), while patients with pre-ESRD anemia (hgb < 11 g/dl) were 29% more likely to use a CVC at dialysis initiation (p = 0.006) compared to those with hemoglobin > or = 11 g/dl. Patients receiving predialysis erythropoietin had a 41% lower odds of CVC use at dialysis initiation (p = < 0.001). Finally, dialysis year was predictive of CVC use; in 2002, 76% of patients initiated dialysis with a CVC compared with 66% in 1998 (p < 0.001). Overall, female gender, ischemic heart disease, lack of obesity, factors suggesting poor pre-ESRD care, and successive year of dialysis initiation were predictive of CVC use at hemodialysis initiation.


Subject(s)
Catheterization, Central Venous/instrumentation , Catheters, Indwelling/statistics & numerical data , Kidney Failure, Chronic/therapy , Renal Dialysis/methods , Aged , Female , Follow-Up Studies , Humans , Male , Middle Aged , Retrospective Studies , Treatment Outcome
14.
J Am Soc Nephrol ; 18(4): 1344-52, 2007 Apr.
Article in English | MEDLINE | ID: mdl-17344425

ABSTRACT

This report describes the prevalence and characteristics of people with a family history of ESRD in a first-degree relative (FH-ESRD). This is a cross-sectional study of individuals in the Reasons for Geographic and Racial Differences in Stroke (REGARDS) cohort, a population-based sample of US residents who are 45 yr and older. FH-ESRD was ascertained at baseline among 12,030 participants of the cohort, and multivariate logistic regression was used to identify characteristics that were independently associated with FH-ESRD. FH-ESRD was reported by 9.5% of participants. Individual characteristics that were independently associated with FH-ESRD included black race (odds ratio [OR] 2.14; 95% confidence interval [CI] 1.82 to 2.53); female gender (OR 1.28; 95% CI 1.08 to 1.51); a history of diabetes (OR 1.22; 95% CI 1.02 to 1.47); a 1-SD change in the log of the C-reactive protein level (OR 1.10; 95% CI 1.01 to 1.19); and World Health Organization body mass index weight categories normal (OR 2.11; 95% CI 0.66 to 6.79), overweight (OR 2.64; 95% CI 0.82 to 8.42), and obese (OR 3.48; 95% CI 1.09 to 11.1) compared with underweight. Black but not white individuals with FH-ESRD were more likely to have an estimated GFR <60 ml/min per 1.73 m(2). There is a high prevalence of FH-ESRD among US adults, and the prevalence of FH-ESRD was higher among lack individuals. Individuals with a positive family history were more likely to have diabetes and to be obese. If confirmed, then these findings suggest that individuals with FH-ESRD may benefit from interventions to improve the detection and treatment of chronic kidney disease risk factors such as diabetes and obesity.


Subject(s)
Kidney Failure, Chronic/genetics , Stroke/epidemiology , Aged , Aged, 80 and over , Body Mass Index , C-Reactive Protein/analysis , Cohort Studies , Cross-Sectional Studies , Family , Female , Glomerular Filtration Rate , Hemoglobins/analysis , Humans , Kidney Failure, Chronic/blood , Kidney Failure, Chronic/epidemiology , Male , Middle Aged , Prevalence , Serum Albumin/analysis , Stroke/ethnology , United States/epidemiology
15.
Am J Kidney Dis ; 49(2): 276-83, 2007 Feb.
Article in English | MEDLINE | ID: mdl-17261430

ABSTRACT

BACKGROUND: Early arteriovenous fistula (AVF) creation is necessary to curb the use of central venous catheters (CVCs) and reduce their complications. We sought to examine patient characteristics that may influence persistent CVC use 90 days after dialysis therapy initiation among patients using a CVC. METHODS: Data from the 1999 to 2003 Clinical Performance Measures Project was linked to the Centers for Medicare & Medicaid Services Medical Evidence (2728) form. RESULTS: Most patients (59.4%) starting dialysis with a CVC failed to transition to permanent access within 90 days, whereas 25.4% received a graft and only 15.2% received an AVF. Older patients (>75 years) were more than 2-fold more likely to remain CVC dependent at 90 days (P = 0.0.001) compared with those younger than 50 years. In addition, race and sex were highly predictive of CVC dependence at 90 days; black females, white females, and black males were 75% (P < 0.001), 61% (P < 0.001), and 35% (P = 0.023) more likely than white males to maintain CVC use, whereas patients with ischemic heart disease and peripheral vascular disease were 35% (P = 0.023) and 39% (P = 0.007) more likely to remain CVC dependent at 90 days, respectively. CONCLUSION: Prolonged CVC dependence is more likely to occur among patients of older age, females, blacks, and those with cardiovascular comorbidity, suggesting inadequate or late access referral or greater primary access failure. Our findings suggest possible missed opportunities for early conversion of patients to permanent vascular access that may vary by race and sex.


Subject(s)
Catheterization, Central Venous , Catheters, Indwelling , Kidney Failure, Chronic/epidemiology , Kidney Failure, Chronic/therapy , Aged , Female , Humans , Male , Middle Aged , Predictive Value of Tests , Retrospective Studies , Time Factors
16.
Am J Kidney Dis ; 48(1): 50-8, 2006 Jul.
Article in English | MEDLINE | ID: mdl-16797386

ABSTRACT

BACKGROUND: Obesity is an established risk factor for chronic kidney disease and aggregates in families. The objective of this study is to examine the relationship between obesity and family history of end-stage renal disease (ESRD). METHODS: Data were collected from 25,883 incident patients with ESRD in US ESRD Network 6 (Georgia, North Carolina, and South Carolina) dialysis clinics between 1995 and 2003. Family history is defined as a first- or second-degree relative with ESRD. Body mass index (BMI) at dialysis therapy initiation was classified as underweight (BMI < 18.5 kg/m2), normal (BMI, 18.5 to <25 kg/m2), overweight (BMI, 25 to < 30 kg/m2), obese (BMI, 30 to <35 kg/m2), or morbidly obese (BMI > or = 35 kg/m2). RESULTS: Twenty-three percent of patients reported a family history of ESRD. Of patients reporting a family history of ESRD, 5.5% were underweight, 32.5% had normal BMI, 28.0% were overweight, 17.3% were obese, and 16.7% were morbidly obese. After controlling for age, race, sex, primary cause of ESRD, history of diabetes, history of hypertension, and estimated glomerular filtration rate at dialysis therapy initiation, reported family history of ESRD was associated with being overweight (odds ratio [OR], 1.17; 95% confidence interval [CI], 1.08 to 1.26), obese (OR, 1.25; 95% CI, 1.14 to 1.37), and morbidly obese (OR, 1.40; 95% CI, 1.27 to 1.55). CONCLUSION: Obesity at dialysis therapy initiation was associated independently with reported family history of ESRD. This finding suggests that behavioral factors, adiposity-related genes, and gene-by-BMI interaction may contribute to familial risk for ESRD. This finding also suggests that management of obesity may be even more important for patients with a family history of ESRD than for the general population.


Subject(s)
Kidney Failure, Chronic/etiology , Kidney Failure, Chronic/genetics , Obesity/complications , Adult , Aged , Body Mass Index , Cross-Sectional Studies , Female , Genetic Predisposition to Disease , Humans , Kidney Failure, Chronic/therapy , Male , Middle Aged , Pedigree , Renal Dialysis , Risk Factors
17.
Diabetes Care ; 27(9): 2198-203, 2004 Sep.
Article in English | MEDLINE | ID: mdl-15333484

ABSTRACT

OBJECTIVE: End-stage renal disease (ESRD) patients, especially those with diabetes, have an increased risk of nontraumatic lower-extremity amputation (LEA). The present study aims to examine the association of demographic and clinical variables with the risk of hospitalization for LEA among incident hemodialysis patients. RESEARCH DESIGN AND METHODS: The study population consisted of incident hemodialysis patients from the study years 1996-1999 of the ESRD Core Indicator/Clinical Performance Measures (CPM) Project. Cox proportional hazard modeling was used to identify factors associated with LEA. RESULTS: Four percent (116 of 3,272) of noncensored incident patients had an LEA during the 12-month follow-up period. Factors associated with LEA included diabetes as the cause of ESRD or preexisting comorbidity (hazard ratio 6.4, 95% CI 3.4-12.0), cardiovascular comorbidity (1.8, 1.2-2.8), hemodialysis inadequacy (urea reduction ratio [URR] <58.5% (1.9, 1.1-3.3), and lower serum albumin level (1.6, 1.1-2.3). Among patients with diabetes, hemodialysis inadequacy and cardiovascular comorbidity were risk factors for LEA (2.6, 1.4-4.8, and 1.7, 1.1-2.6, respectively). CONCLUSIONS: These data suggest that diabetes is a potent risk factor for LEA in new hemodialysis patients. In ESRD patients with diabetes, a multipronged approach may reduce the rate of LEA. Potentially beneficial strategies include adherence to hemodialysis adequacy guidelines, aggressive treatment of cardiovascular comorbidities, and the utilization of LEA prevention strategies recommended for the general population of patients with diabetes.


Subject(s)
Amputation, Surgical/statistics & numerical data , Diabetes Mellitus/epidemiology , Diabetic Foot/surgery , Diabetic Nephropathies/epidemiology , Kidney Failure, Chronic/epidemiology , Leg/surgery , Adolescent , Adult , Aged , Diabetic Foot/epidemiology , Female , Humans , Incidence , Male , Middle Aged , Renal Dialysis , Risk Factors , Time Factors
18.
Hum Genet ; 112(1): 34-41, 2003 Jan.
Article in English | MEDLINE | ID: mdl-12483297

ABSTRACT

Chromosome 17q25 harbors a susceptibility locus for psoriasis ( PSORS2). This locus may overlap with loci for atopic dermatitis and rheumatoid arthritis. To further refine the location of PSORS2, we genotyped 242 primarily nuclear families for 15 polymorphic microsatellites mapping to chromosome 17q23-q25. Non-parametric linkage analysis revealed a linkage peak lying close to a novel cluster of genes from the immunoglobulin (Ig) superfamily. This cluster spans >250 kb and harbors five CMRF35-like genes and a sixth inhibitory receptor ( CMRF35H) with three ITIM motifs that is transcribed in the opposite direction from the rest. The Ig domains encoded by these genes are most similar to those of the TREM (triggering receptor expressed selectively in myeloid cells) molecules, NKp44 and the polymeric immunoglobulin receptor. CMRF35-like genes are only expressed in sub-populations of cells of the myeloid lineage. In order to investigate the association of this region with psoriasis, we genotyped the families for 13 novel microsatellites and 19 SNPs from the region of linkage. A maximum NPL of 1.6 ( P=0.05) was obtained within the interval. Two SNP-based haplotypes revealed some evidence for association with psoriasis. One spanned CMRF35H and includes a non-synonymous polymorphism within CMRF35H (R111Q) (TDT P=0.03). The second was a three-locus haplotype lying within the first intron of CMRF35A2 ( TREM5) (TDT P=0.04). The novel markers described here will facilitate additional linkage and association studies between the CMRF35 family and disease.


Subject(s)
Chromosomes, Human, Pair 17/genetics , Genes, Immunoglobulin , Genetic Predisposition to Disease , Multigene Family/genetics , Psoriasis/genetics , Adult , Amino Acid Sequence , Cohort Studies , Female , Genetic Linkage , Haplotypes , Humans , Lod Score , Male , Microsatellite Repeats , Molecular Sequence Data , Multigene Family/immunology , Polymorphism, Single Nucleotide , Psoriasis/diagnosis , Sequence Alignment
19.
Am J Med ; 112(7): 549-55, 2002 May.
Article in English | MEDLINE | ID: mdl-12015247

ABSTRACT

Mutations in different domains of the LMNA (lamin A/C) gene encoding nuclear envelope proteins lamin A and lamin C cause familial partial lipodystrophy (Dunnigan variety), dilated cardiomyopathy, and autosomal dominant forms of Emery-Dreifuss and limb-girdle muscular dystrophies. The objective of this study was to evaluate LMNA variants in two families with familial partial lipodystrophy (Dunnigan variety) who also had cardiac conduction system defects and other manifestations related to cardiomyopathy. We performed mutational analysis of the lamin A/C gene in affected and unaffected subjects by deoxyribonucleic acid sequencing of the exons. Two novel missense mutations were identified in exon 1 of the lamin A/C gene. One mutation, R28W (CGG-->TGG), affected the amino-terminal head domain, and the other, R62G (CGC-->GGC), affected the alpha-helical rod domain. Affected subjects from both families had an increased prevalence of cardiac manifestations, such as atrioventricular conduction defects, atrial fibrillation, and heart failure due to ventricular dilatation, as well as pacemaker implantation. The proband from one of the families also had proximal muscle weakness. Novel genetic defects in the LMNA gene in two families with the Dunnigan variety of familial partial lipodystrophy, cardiac conduction system defects, and other manifestations related to cardiomyopathy suggest the occurrence of a multisystem dystrophy syndrome due to LMNA mutations.


Subject(s)
Arrhythmias, Cardiac/genetics , Cardiomyopathies/genetics , Lipodystrophy/genetics , Mutation, Missense , Nuclear Proteins/genetics , Adult , Aged , Arrhythmias, Cardiac/epidemiology , Cardiomyopathies/epidemiology , Child , Chromosomes, Human, Pair 1/genetics , Female , Humans , Lamin Type A , Lamins , Lipodystrophy/epidemiology , Male , Middle Aged , Muscular Dystrophies/genetics , Pedigree , Prevalence , Statistics, Nonparametric , Syndrome , United States/epidemiology
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