Maximum-likelihood generalized heritability estimate for blood pressure in Nigerian families.
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Elevated blood pressure (BP) is more common in relatives of hypertensives than in relatives of normotensives, indicating familial resemblance of the BP phenotypes. Most published studies have been conducted in westernized societies. To assess the ability to generalize these estimates, we examined familial patterns of BP in a population-based sample of 510 nuclear families, including 1552 individuals (320 fathers, 370 mothers, 475 sons, and 387 daughters) from Ibadan, Nigeria. The prevalence of obesity in this community is low (body mass index: fathers, 21.6; mothers, 23.6; sons, 19.2; and daughters=21.0 kg/m2). The BP phenotype used in all analyses was created from the best regression model by standardizing the age-adjusted systolic blood pressure (SBP) and diastolic blood pressure (DBP) to 0 mean and unit variance. Heritability was estimated by use of the computer program SEGPATH from the most parsimonious model of "no spouse and neither gender nor generation difference" as 45% for SBP and 43% for DBP. The lack of a significant spouse correlation is consistent with little or no influence of the common familial environment. However, the heritability estimate of <50% for both SBP and DBPs reinforces the importance of the nonshared environmental effect. (+info)
Use of the Pediatric Symptom Checklist to screen for psychosocial problems in pediatric primary care: a national feasibility study.
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BACKGROUND: Routine use of a brief psychosocial screening instrument has been proposed as a means of improving recognition, management, and referral of children's psychosocial morbidity in primary care. OBJECTIVE: To assess the feasibility of routine psychosocial screening using the Pediatric Symptom Checklist (PSC) in pediatrics by using a brief version of the checklist in a large sample representative of the full range of pediatric practice settings in the United States and Canada. We evaluated large-scale screening and the performance of the PSC in detecting psychosocial problems by (1) determining whether the prevalence of psychosocial dysfunction identified by the PSC was consistent with findings in previous, smaller samples; (2) assessing whether the prevalence of positive PSC screening scores varied by population subgroups; and (3) determining whether the PSC was completed by a significant proportion of parents from all subgroups and settings. PATIENTS AND METHODS: Twenty-one thousand sixty-five children between the ages of 4 and 15 years were seen in 2 large primary care networks: the Ambulatory Sentinel Practice Network and the Pediatric Research in Office Settings network, involving 395 pediatric and family practice clinicians in 44 states, Puerto Rico, and 4 Canadian provinces. Parents were asked to complete a brief questionnaire that included demographic information, history of mental health services, the 35-item PSC, and the number of pediatric visits within the past 6 months. RESULTS: The overall prevalence rates of psychosocial dysfunction as measured by the PSC in school-aged and preschool-aged pediatric outpatients (13% and 10%, respectively) were nearly identical to the rates that had been reported in several smaller samples (12%-14% among school-aged children and 7%-14% among preschoolers). Consistent with previous findings, children from low-income families were twice as likely to be scored as dysfunctional on the PSC than were children from higher-income families. Similarly, children from single-parent as opposed to those from 2-parent families and children with a past history of mental health services showed an elevated risk of psychosocial impairment. The current study was the first to demonstrate a 50% increase in risk of impairment for male children. The overall rate of completed forms was 97%, well within an acceptable range, and at least 94% of the parents in each sociodemographic subgroup completed the PSC form. CONCLUSIONS: Use of the PSC offers an approach to the recognition of psychosocial dysfunction that is sufficiently consistent across groups and locales to become part of comprehensive pediatric care in virtually all outpatient settings. In addition to its clinical utility, the consistency and widespread acceptability of the PSC make it well suited for the next generation of pediatric mental health services research, which can address whether earlier recognition of and intervention for psychosocial problems in pediatrics will lead to cost-effective outcomes. (+info)
The prevalence and distribution of bruising in babies.
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AIM: To obtain a prevalence rate and determine the distribution of accidental bruising in babies. METHODS: 177 babies aged 6-12 months were examined naked to look for bruises. They were seen in health visitor hearing test clinics and child health surveillance clinics. The site, size, shape, and colour of bruises were recorded on a skin map, and the parent's explanation noted. Any other injury was recorded. Data collection included the baby's age, mobility and weight, demographic details, and health visitor concerns. RESULTS: Twenty two babies had bruises, giving a prevalence rate of 12%. There was a total of 32 bruises, 15 babies had one bruise. All bruises were found on the front of the body and were located over bony prominences. Twenty five of the bruises were on the face and head, and seven were on the shin. The babies with bruises on the shin were mobile. There was a highly significant increase in bruises with increase in mobility. CONCLUSIONS: The study has produced a prevalence and distribution of bruising in babies and sets a baseline from which to work when assessing bruises. It also tested out the methodology, which could be used in further research, particularly of younger babies. Clinicians need to assess a baby's level of development when considering whether a bruise is accidental. (+info)
The epidemiology of rheumatoid arthritis in Rochester, Minnesota, 1955-1985.
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OBJECTIVE: To describe trends in the epidemiology of rheumatoid arthritis (RA) over a period of 30 years in a population-based cohort. METHODS: An inception cohort of Rochester, Minnesota residents who were > or =35 years of age and had RA (as defined by the 1987 American College of Rheumatology criteria for RA) first diagnosed between January 1, 1955 and January 1, 1985 was assembled and followed up until January 1, 1995. Incidence rates were age- and sex-adjusted to the 1970 US white population. Prevalence of RA in this cohort was estimated on January 1, 1985. A birth-cohort analysis was performed by calculating and comparing incidence rates in each of 16 birth cohorts. RESULTS: Of the 425 Rochester residents who fulfilled the inclusion criteria, there were 113 men (26.6%) and 312 women (73.4%), with a mean age at diagnosis of 60.2 years. The mean followup time was 15.1 years. The overall age- and sex-adjusted annual incidence of RA among Rochester, Minnesota residents > or =35 years of age (1955-1985) was 75.3 per 100,000 population (95% confidence interval 68.0-82.5). This incidence was approximately double in women compared with that in men and increased steadily with age, until age 85, after which the incidence of RA decreased. Secular trends in the incidence of RA over the entire study period were demonstrated. The overall prevalence of RA on January 1, 1985 was approximately 1%. The birth-cohort analysis showed peak incidence rates in the 1880-1895 birth cohorts. CONCLUSION: The epidemiology of RA is dynamic. The findings in this study lend further support to the hypothesis of a host-environment interaction in the pathogenesis of RA. (+info)
The associations of bone mineral density and bone turnover markers with osteoarthritis of the hand and knee in pre- and perimenopausal women.
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OBJECTIVE: To determine whether Caucasian women ages 28-48 years with newly defined osteoarthritis (OA) would have greater bone mineral density (BMD) and less bone turnover over time than would women without OA. METHODS: Data were derived from the longitudinal Michigan Bone Health Study. Period prevalence and 3-year incidence of OA were based on radiographs of the dominant hand and both knees, scored with the Kellgren/Lawrence (K/L) scale. OA scores were related to BMD, which was measured by dual-energy x-ray absorptiometry, and to serum osteocalcin levels, which were measured by radioimmunoassay. RESULTS: The period prevalence of OA (K/L grade > or =2 in the knees or the dominant hand) was 15.3% (92 of 601), with 8.7% for the knees and 6.7% for the hand. The 3-year incidence of knee OA was 1.9% (9 of 482) and of hand OA was 3.3% (16 of 482). Women with incident knee OA had greater average BMD (z-scores 0.3-0.8 higher for the 3 BMD sites) than women without knee OA (P < 0.04 at the femoral neck). Women with incident knee OA had less change in their average BMD z-scores over the 3-year study period. Average BMD z-scores for women with prevalent knee OA were greater (0.4-0.7 higher) than for women without knee OA (P < 0.002 at all sites). There was no difference in average BMD z-scores or their change in women with and without hand OA. Average serum osteocalcin levels were lower in incident cases of hand OA (>60%; P = 0.02) or knee OA (20%; P not significant). The average change in absolute serum osteocalcin levels was not as great in women with incident hand OA or knee OA as in women without OA (P < 0.02 and P < 0.05, respectively). CONCLUSION: Women with radiographically defined knee OA have greater BMD than do women without knee OA and are less likely to lose that higher level of BMD. There was less bone turnover among women with hand OA and/or knee OA. These findings suggest that bone-forming cells might show a differential response in OA of the hand and knee, and may suggest a different pathogenesis of hand OA and knee OA. (+info)
Gastroesophageal reflux disease: diagnosis and management.
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Gastroesophageal reflux disease (GERD) is a chronic, relapsing condition with associated morbidity and an adverse impact on quality of life. The disease is common, with an estimated lifetime prevalence of 25 to 35 percent in the U.S. population. GERD can usually be diagnosed based on the clinical presentation alone. In some patients, however, the diagnosis may require endoscopy and, rarely, ambulatory pH monitoring. Management includes lifestyle modifications and pharmacologic therapy; refractory disease requires surgery. The therapeutic goals are to control symptoms, heal esophagitis and maintain remission so that morbidity is decreased and quality of life is improved. (+info)
The prevalence of common BRCA1 and BRCA2 mutations among Ashkenazi Jews.
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Three founder mutations in the cancer-associated genes BRCA1 and BRCA2 occur frequently enough among Ashkenazi Jews to warrant consideration of genetic testing outside the setting of high-risk families with multiple cases of breast or ovarian cancer. We estimated the prevalence of these founder mutations in BRCA1 and BRCA2 in the general population of Ashkenazi Jews according to age at testing, personal cancer history, and family cancer history. We compared the results of anonymous genetic testing of blood samples obtained in a survey of >5,000 Jewish participants from the Washington, DC, area with personal and family cancer histories obtained from questionnaires completed by the participants. In all subgroups defined by age and cancer history, fewer mutations were found in this community sample than in clinical series studied to date. For example, 11 (10%) of 109 Jewish women who had been given a diagnosis of breast cancer in their forties carried one of the mutations. The most important predictor of mutation status was a previous diagnosis of breast or ovarian cancer. In men and in women never given a diagnosis of cancer, family history of breast cancer before age 50 years was the strongest predictor. As interest in genetic testing for BRCA1 and BRCA2 in the Jewish community broadens, community-based estimates such as these help guide those seeking and those offering such testing. Even with accurate estimates of the likelihood of carrying a mutation and the likelihood of developing cancer if a mutation is detected, the most vexing clinical problems remain. (+info)
Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease.
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Creutzfeldt-Jakob disease (CJD) belongs to a group of prion diseases that may be infectious, sporadic, or hereditary. The 200K point mutation in the PRNP gene is the most frequent cause of hereditary CJD, accounting for >70% of families with CJD worldwide. Prevalence of the 200K variant of familial CJD is especially high in Slovakia, Chile, and Italy, and among populations of Libyan and Tunisian Jews. To study ancestral origins of the 200K mutation-associated chromosomes, we selected microsatellite markers flanking the PRNP gene on chromosome 20p12-pter and an intragenic single-nucleotide polymorphism at the PRNP codon 129. Haplotypes were constructed for 62 CJD families originating from 11 world populations. The results show that Libyan, Tunisian, Italian, Chilean, and Spanish families share a major haplotype, suggesting that the 200K mutation may have originated from a single mutational event, perhaps in Spain, and spread to all these populations with Sephardic migrants expelled from Spain in the Middle Ages. Slovakian families and a family of Polish origin show another unique haplotype. The haplotypes in families from Germany, Sicily, Austria, and Japan are different from the Mediterranean or eastern European haplotypes. On the basis of this study, we conclude that founder effect and independent mutational events are responsible for the current geographic distribution of hereditary CJD associated with the 200K mutation. (+info)