Prevalence Of Positive Family History Research Articles

Impact of Pavlik Harness treatment on motor skills acquisition: A case–control study

Purpose: Our purpose was to analyze the impact of Pavlik Harness treatment on children motor skills development, comparing to a control group. Methods: A total of 121 children were included: 55 cases (children with Developmental Dysplasia of the Hip) and 66 healthy controls. Cases were recruited from 2017 to 2021 and followed up to 2022. Controls (healthy children without orthopedic pathology) were recruited from 2020 to 2022. The primary endpoint was the time of achievement of three gross motor milestones (sitting without support, hands-and-knees crawling, and walking independently). Results: The groups had no differences regarding sex distribution, gestational age, birth weight, and rate of twin pregnancy. The prevalence of positive family history of Development Dysplasia of the Hip (20.0% vs 3.0%, p < 0.003), breech presentation (38.2% vs 1.5%, p < 0.001), and C-section delivery (60.0% vs 19.7%, p < 0.001) was significantly higher in Development Dysplasia of the Hip group. Children with Development Dysplasia of the Hip achieved the three gross milestones evaluated 1 month later than healthy controls, although this was not statistically significant (p = 0.133 for sitting, p = 0.670 for crawling, and p = 0.499 for walking). Conclusion: Children with Development Dysplasia of the Hip, treated by Pavlik harness, do not have significant delays in motor skills acquisition.

A national registry-based study of ethnic differences in people with multiple sclerosis in Iran

ObjectiveThe relationship between MS and ethnicity has been understudied in the Middle East compared to the United States and Europe. As Iran as the highest prevalence of MS in the Middle East, we decided to investigate the demographic and clinical differences in people with MS (pwMS) from major ethnicities Iran. MethodsIn a cross-sectional study using data from National Multiple Sclerosis Registry in Iran. PwMS from six provinces were chosen and interviewed for determining their ethnicity. Persians (Fars), Kurds, Lurs, Azeris and Arabs with a clear ethnic background were included. Recorded data from the registry was used to compare the demographic and clinical features. ResultsA total of 4015 pwMS (74.2% female) were included in the study with an average age of 36.76 ± 9.68 years. Persians and Kurds had the highest percentage of pwMS in youngest and oldest age groups, respectively, with 2.9% and 5.7% (p<0.01). The highest average age of onset was seen in Persians (29.47 ± 8.89) and the lowest observed in Mazandaranis (26.82 ± 7.68, p<0.01). Azeris and Kurds had the highest proportions of pwMS diagnosed <18 and >55, at rates of 12% and 1.6%, respectively (p<0.01). There were statistically significant differences in distribution of phenotypes (p<0.01) and time to progression to secondary progressive MS (p<0.01) such that Persians had the highest rate of clinically isolated syndrome (CIS) at 19.3% and Arabs had highest rates of relapsing-remitting MS (86.2%) and secondary progressive MS (16.4%). Lurs, Azeris and Mazandaranis had significantly more patients progressing to secondary-progressive MS <5 years from diagnosis (p<0.01). There was a significant difference in number of relapses between the ethnicities (p<0.01) with Lurs having the highest proportion of participants reporting >4 relapses with 23.0% and Azeris having the highest percentage of pwMS reporting no relapse (53.0%). Kurds had the highest Expanded Disability Status Scale (EDSS) average at 2.93 ± 1.99 and Lurs had the lowest with 1.28 ± 1.25 (p<0.01). The differences in prevalence of positive family history for the whole cohort between ethnicities were significant (P=0.02), ranging from 12.8% in Kurds to 19.6% in Persians. ConclusionWe found Persians to have higher rates of pediatric MS and higher rates of CIS. Kurds and Lurs had higher and lower EDSS scores, respectively. Lurs and Persian had higher annual relapse rates. We also found lower rates of SPMS among Arabs and earlier progression to SPMS in Lurs, Azeris and Mazandaranis. Such differences highlight the importance of the potential role of ethnicities in diagnosis and prognosis of MS, especially considering their observation within the geographical limits of a single country.

Preparticipation Screening of Athletes: The Prevalence of Positive Family History

Sudden cardiac death (SCD) is a leading cause of death among athletes, and those with a positive family history (FH) of SCD and/or cardiovascular disease (CVD) may be at increased risk. The primary objective of this study was to assess the prevalence and predictors of positive FH of SCD and CVD in athletes using four widely used preparticipation screening (PPS) systems. The secondary objective was to compare the functionality of the screening systems. In a cohort of 13,876 athletes, 1.28% had a positive FH in at least one PPS system. Multivariate logistic regression analysis identified the maximum heart rate as significantly associated with positive FH (OR = 1.042, 95% CI = 1.027-1.056, p < 0.001). The highest prevalence of positive FH was found using the PPE-4 system (1.20%), followed by FIFA, AHA, and IOC systems (1.11%, 0.89%, and 0.71%, respectively). In conclusion, the prevalence of positive FH for SCD and CVD in Czech athletes was found to be 1.28%. Furthermore, positive FH was associated with a higher maximum heart rate at the peak of the exercise test. The findings of this study revealed significant differences in detection rates between PPS protocols, so further research is needed to determine the optimal method of FH collection.

The Prevalence of Positive Family History of Malignancy Among Patients with Gynecologic Cancers in the Kingdom of Bahrain: A Retrospective Cross-sectional Study

The Prevalence of Positive Family History of Malignancy Among Patients with Gynecologic Cancers in the Kingdom of Bahrain: A Retrospective Cross-sectional Study

MO855PREVALENCE OF SELF-REPORTED KIDNEY DISEASE AMONG THE FIRST DEGREE RELATIVES OF SAUDI PATIENTS ON DIALYSIS AND ITS RELATIONSHIP TO SPECULATIVE VERSUS DEFINITIVE CAUSES OF CKD IN THE INDEX CASE

Abstract Background and Aims CKD is common in Saudi Arabia. This study evaluates and compares the prevalence and clinical characteristics of Saudi dialysis patients with a positive family history of kidney disease to those without such a history and to assess certainty of the CKD diagnosis by their physicians. Method This is a cross-sectional survey-based study on adult Saudi hemodialysis patients in six dialysis centers in four Saudi cities. The first part of the survey recorded the demographic variables and the degree of diagnostic certainty (completed by the physicians) and the second part (completed by the patients) recorded first degree family history of kidney disease. Results A total of 1080 patients were included. The prevalence of positive family history (FH) was 21.5%. The number of relatives affected was 285, (41%) were parents and (57%) were siblings. More relatives of female patients had ESRD than in relatives of male patients (80.2% and 68.9% respectively) (p=0.0001). There were significantly more patients with “unknown” or “hypertensive” diagnostic labels among the patients with FH of kidney disease than in the group without a family history (p=007 and 0.005 respectively). Dialysis vintage was significantly shorter and CKD vintage was significantly longer in positive FH patients (4.9 ±6.4 yrs.) than in patients without FH (5.9 ±5.8yrs) (p=0.03). The duration since the diagnosis of CKD was made was significantly longer in patients with FH of kidney disease (7.5±7.7 yrs.) than in patients without (2.0±4.5) (p=0.0001). Of all the diagnoses given to the patients, more than half (57.8%) were either “unknown” (33%) or only speculative in nature (25.3%). In those with a diagnostic label, the diagnosis was thought to be definitive in only 62.2% of the cases. Conclusion The prevalence of FH of kidney disease was 21.5%, and it was more prevalent with patients with “unknown” or “hypertension” (13%) diagnostic labels.

Breast Cancer Knowledge and Practice among Saudi Arabia Women with and Without Positive Family History: A Cross Sectional Study

Knowledge of association between breast cancer and risk factors of family history can help change the health behaviour. To reduce risk factors associated with breast cancer among young women in Saudi Arabia, it is necessary to understand the degree of risk perception and socio-economic differences. A cross-sectional study of 253 Saudi women aged 25-64 years investigated the awareness of risk factors (positive family history) for breast cancer. Standard self-administered questionnaire, screening practices including breast self-examination (BSE), clinical breast examination (CBE), and mammography were included in the data collection and analysed through PRISM (version 8.4.2.) for individuals with and without a positive family history. Prevalence of positive family history and non-family history was 75/253 (30%), and 178/253 (70%) respectively. The mean age of women with a positive family history (FH+) was 47.1 years and without a positive family history (FH-) was 43.4 years. The results showed that both groups were low in practicing BSE (FH+ 23% and FH- 13%) once a month. The BSE knowledge assessment showed 77% in FH+ women whereas the knowledge of CBE and mammography in FH+ women were 75 % and 76% respectively, and 83% and 56% respectively in FH+ women. Awareness of family history as a risk factor was greater in FH+ women compared to FH- women. The women with lower education and low income have less knowledge about breast cancer screening behaviour and FH+ as a risk factor were identified. The results indicated limited knowledge of risk factors and inadequate breast cancer screening of FH+ women. Poor knowledge and practice of breast screening can contribute to late-stage breast cancer disease. Understanding the strengths and importance of the relationship between breast screening activity and its risk factors is essential to the emerging and more tailored promotion of breast health.

Refractive error scenario in paediatric age group (7-15 years) in Assam: A hospital based study

Aim: To study the prevalence of various types of Uncorrected Refractive errors in a paediatric age group (7-15 years) attending a tertiary care centre. Materials and Methods: A hospital based cross sectional study was carried out to evaluate proportion of various types of uncorrected refractive errors in age group of 7–15yrs. in a tertiary eye care centre for a period of 3 months. Total of 4000 children were screened for presence of refractive error after taking informed consent from their parents. Children were then grouped into different types of refractive errors based on the results of cycloplegic refraction. Results: Out 4000 children, the most common age with refractive error was 10-12 years followed by 13-15 years and the commonest refractive error was astigmatism (55%) followed by myopia (34%). The most common presenting symptom was headache followed by visual disturbance. Significant family history was noted among group with prevalence of positive family history in 17% of study group. Discussion & amp, Conclusion: Astigmatism & Myopia is the commonest types of refractive error in children that was consistent with other Indian studies. Study suggests the significance of early school based screen to reduce the burden of childhood ocular morbidity because of uncorrected refractive error. Keywords: Uncorrected refractive error, Childhood blindness, Assam, Scenario.

Regional variation of pediatric inflammatory bowel disease in Saudi Arabia: Results from a multicenter study.

BACKGROUNDIncidence and severity variations of inflammatory bowel disease (IBD) have been reported from Western populations between continents and regions of the same countries. However, no data were available from other countries.AIMTo investigate the regional differences in the IBD profiles of pediatric patients from the Kingdom of Saudi Arabia.METHODSData from a national multicenter IBD study were used. The incidence, time trend, and clinical presentation of Crohn’s disease (CD) and ulcerative colitis (UC) in the Central region (CR), Western region (WR), and Eastern region (ER) were analyzed and compared. Statistical analysis included Poisson regression analysis for incidence variation and Chi-square test for demographic and clinical parameters. A P < 0.05 was considered significant.RESULTSThe prevalence of positive family history was lower in children with CD from the ER than the CR or the WR. Consanguinity rate was higher in children with CD and UC from the CR and the ER, respectively. The incidences and time trends of CD and UC were not significantly different between regions. In the ER, a significantly higher percentage of children with CD presented with abdominal pain (P < 0.001), blood in stools (P = 0.048), stricturing or penetrating disease (P = 0.029), higher erythrocyte sedimentation rate (P < 0.001), higher C-reactive protein (P < 0.001), higher anemia (P = 0.017), and lower albumin level (P = 0.014). For children with UC from the ER, a significantly higher percentage presented with anemia (P = 0.006) and a lower percentage with pancolitis (P < 0.001).CONCLUSIONThe most important finding is the identification of significantly more severe presentation of CD in the ER of the Kingdom of Saudi Arabia. Prospective studies are needed to explain such variations.

Awareness of breast cancer risk related to a positive family history and alcohol consumption among women aged 15-44years in United States.

Awareness of the link between breast cancer and risk factors such as family history of breast cancer and alcohol consumption may help modify health behaviors. To reduce risk factors for breast cancer among young women, it is important to understand overall levels of risk awareness and socioeconomic differences in awareness. Data from the National Survey of Family Growth 2011-2015 were used to examine awareness of two risk factors for breast cancer, positive family history and alcohol consumption, among women aged 15-44years (n=10,940) in the United States by presence of risk factors and by socioeconomic characteristics. Prevalence of positive family history, non-binge, and binge drinking was 30%, 29%, and 31%, respectively among women aged 15-44. Awareness of positive family history of breast cancer as a risk factor for breast cancer was 88%, whereas for alcohol consumption it was 25%. Awareness of family history as a risk factor was higher among women with positive family history of breast cancer compared to those without. Current drinkers were more likely to believe that alcohol was not a risk factor for breast cancer compared to those who did not drink. Racial/ethnic minority women and those with lower education and income had lower awareness of family history as a risk factor. Awareness of alcohol consumption as a risk factor for breast cancer was low across all socioeconomic groups. Evidence-based interventions to increase risk awareness and decrease excessive alcohol use among young women are needed to reduce the risk of developing breast cancer.

P6427Positive family history of cardiovascular disease and long-term outcomes after coronary artery bypass grafting in younger patients: a genetic paradox?

Abstract Background Parental cardiovascular disease (CVD) is a known risk factor for premature CVD in both men and women. It is unknown whether a positive family history (PFH) of premature CVD also affects long-term outcomes after coronary artery bypass grafting (CABG). Purpose We estimated the prevalence of PFH of premature CVD in a large population of CABG patients younger than 60 years of age. We evaluated whether PFH is an independent predictor of survival and freedom from major adverse cardiac and cerebrovascular events (MACCEs) following CABG. Methods Data come from a prospective longitudinal study of first, non-emergent, CABG patients consecutively recruited at the Innsbruck Medical University between August 2001 and February 2018 (n=5389). Patients were followed up for a median of 8 years. From this study, 2553 patients with premature CAD undergoing CABG under the age of 60 years were identified. Self-reported PFH data was available for 99.3% of patients; n=2535 patients were eligible for these analyses. In line with the Framingham offspring study, a premature PFH of CVD was defined when a patient's father and/or mother experienced their first CV event at &lt;55 (father) and &lt;65 (mother) years of age, respectively. Adjusted multivariable Cox proportional hazards regression was used to assess the effect of PFH on overall and MACCE-free survival. Results Premature PFH was found in 54.2% of patients (n=1375). Within these patients, 66.1% had a father who experienced a premature CV event (n=909), 27.8% a mother (n=382) and 6.1% both a mother and a father (n=84). In the majority of cases the patient's parent had experienced a premature cardiac event (85.9%, n=1181), 14.1% of patients with PFH reported their parent(s) had a premature stroke (n=194). Patients with a PFH had lower rates of smoking, diabetes and renal disease but were more likely to be hypertensive. Following CABG, PFH was associated with improved long-term survival (adjusted HR, 0.66; 95% CI, 0.50–0.91; p=0.011) and MACCE-free survival (adjusted HR, 0.73; 95% CI, 0.68–0.89; p=0.01). Among the covariates adjusted for, age, diabetes, renal insufficiency, peripheral arterial disease, impaired left ventricular function, previous cerebrovascular events and previous mediastinal radiation were associated with poorer outcomes. In contrast, multiple arterial grafting by bilateral internal thoracic arteries improved both survival (adjusted HR, 0.52; 95% CI, 0.36–0.74; p&lt;0.001), and MACCE-free survival (adjusted HR, 0.41; 95% CI, 0.31–0.54; p&lt;0.001). Conclusion In this cohort of high-risk patients undergoing CABG under 60 years of age, PFH was highly prevalent. Whilst it is evident that a PFH increases the risk of requiring CABG at younger ages, this study shows that PFH is also, paradoxically, protective regarding long-term outcomes; PFH is associated with both improved overall and MACCE-free survival following CABG.

Change in Prevalence of Family History During Long-term Follow-up of Patients With Pediatric-onset Inflammatory Bowel Disease.

The aim of the study was to prospectively study changes in prevalence of positive family history (FH+) in pediatric-onset inflammatory bowel disease (IBD) in contrast to previously published cross-sectional data. An observational cohort study was performed using a prospective pediatric-onset IBD database including 485 patients with disease duration ≥10 years as of December 2016. Proband characteristics and FH+ were obtained at diagnosis and subsequently from the database, medical records, and follow-up telephone interviews in 2006 and 2016. Updated 2016 information was obtained from 322 (66%) patients and included in analysis with median follow-up of 18 years (interquartile range 14, 26). Prevalence of FH+ increased from 13.7% at diagnosis to 26.6% at 20 years for first-degree relatives and from 38.5% to 52.2% for all relatives. At 20-year follow-up, an additional 10.0% of probands had a sibling, 6.1% had a parent, 1.9% had a grandparent, and 4.5% had a cousin diagnosed with IBD. FH+ at diagnosis was associated with greater risk for additional FH+ at 20 years (43% vs 22%, P < 0.001). Non-Jewish Caucasians had significantly lower risk of a FH+ compared to Jewish Caucasians (P = 0.002), but similar risk to African Americans (P = 0.55). FH+ at diagnosis was not associated with disease type (P = 0.33) or age at diagnosis (P = 0.24). This prospective study documents changes in family history of IBD in pediatric-onset IBD patients over time. Prevalence of FH+ increased for first-degree and all relatives at 20 years by 12.9% and 13.7%, respectively. FH+ at diagnosis was associated with a 2-fold greater likelihood of subsequent FH+ at 20 years.

Association between Family History and Keratoconus Severity

ABSTRACTPurpose: The high prevalence of positive family history of keratoconus (KC) in KC patients is well-known. However, the results regarding the association between family history of KC and disease severity are controversial. The aim of this study was to evaluate the possible association between family history and severity of KC.Method: Clinical data of 1496 KC patients were evaluated. All participants were asked if they had had a family member with KC. Topographic and keratometric measurements of KC patients, including central corneal thickness (CCT), thinnest corneal thickness (TCT), mean, flat, and steep keratometry values (K) by the use of Pentacam, best-spectacle corrected visual acuity (BCVA), spherical equivalent (SE), and astigmatism were recorded and compared according to patients with and without a family history of KC, first- or second-degree family members, and the number of family members with KC. Severity of KC was classified according to the Amsler–Krumeich classification.Results: Family history of KC was present in 292 (19.5%) patients. Of those 292 patients who had a family history of KC, 159 (54.5%) had one family member with KC and 133 (45.5%) had two or more family members with KC. There was not a significant difference between corneal pachymetry and K values of the patients with and without a family history of KC (p > 0.05). However, those with a positive family history of KC had more severe disease, according to the Amsler–Krumeich classification (p < 0.05). KC patients who had more family members with KC had significantly lower TCT and significantly higher steep K and astigmatism (p < 0.05), and had more severe disease, according to the Amsler–Krumeich classification (p < 0.05).Conclusion: We suggest that patients with more family members with KC should be subject to screening to identify early disease.

Evaluation of lipid and glucose metabolism and cortisol and thyroid hormone levels in obese appropriate for gestational age (AGA) born and non-obese small for gestational age (SGA) born prepubertal Slovak children

Obesity is the major determinant of metabolic syndrome. Being born small for gestational age (SGA) may be co-responsible. We aimed at evaluating the association between 1. obesity and 2. being born SGA and the presence of endocrine-metabolic abnormalities in prepubertal Slovak children. The study included 98 children, aged 3-10.9 years: 36 AGA-born obese children (OB), 31 SGA-born children (SGA) and 31 appropriate for gestational age born non-obese children (AGA). Fasting serum levels of glucose, total cholesterol, LDL, HDL, triglycerides, fT4, TSH, cortisol and insulin were determined. HOMA-IR was calculated. Personal data about birth weight and length and family history were collected. Actual anthropometric measurement was done. In every group, high prevalence of positive family history of metabolic disorder was found. In comparison with AGA children, OB children were taller (p<0.01) with higher body mass index (BMI) (p<0.001), and had increased insulin levels and homeostasis model assessment for insulin resistance (HOMA-IR) (p<0.001), decreased high-density lipoprotein (HDL) (p<0.001), and a trend to higher cortisol levels (p=0.069) was noted. SGA-born children were shorter (p<0.001), with BMI comparable to the AGA group. They had higher glucose levels (p<0.001), a trend to decreased HDL levels (p=0.085) and increased fT4 levels (p<0.001). A three-fold higher occurrence of metabolic abnormalities was present in obese children and twice more metabolic abnormalities were present in SGA-born children in comparison with AGA-born children. SGA-born children are more prone to developing endocrine-metabolic abnormalities than non-obese children born AGA, but they are at less risk than obese AGA-born children. We should provide specialized care for obese children already in prepubertal age and pay attention to SGA-born children.

The prevalence of obesity is increased in patients with late compared with early onset psoriasis

PurposeWe compared the clinical and epidemiologic characteristics of early and late onset psoriasis with an emphasis on potential differences in the comorbidities associated with each subtype. MethodsAn observational, multicenter study was performed, and associations between the age at the time of diagnosis and binary comorbidity outcomes were evaluated using multiple logistic regression analysis adjusted for age and other relevant confounders. ResultsAn increased prevalence of positive family history, psoriatic arthritis, and depression was observed in patients with early onset psoriasis. On the other hand, late onset psoriasis was more frequently associated with obesity and elevated waist circumference compared with early onset form. Elderly psoriatic patients (at the age of 75 years) with late onset psoriasis are at an especially high risk for obesity compared with individuals at the same age with an early onset disease. ConclusionsThe increased frequency of psoriasis in the family of early onset patients may suggest that manifestation of psoriasis at younger age is driven by strong genetic influence. However, such a remarkable association of abdominal obesity with late onset psoriasis may suggest that obesity can be one of the acquired factors that may predispose for the development of psoriasis in the elderly.

Characteristics of 244 patients with keratoconus seen in an optometric contact lens practice

BackgroundThe purpose of this study was to describe the characteristics of keratoconic patients seen in a specialised contact lens practice from a general population with a high prevalence of the disease.MethodsPatients attending a contact lens practice for management of keratoconus were asked to complete a questionnaire. Data were collected on demographic characteristics, general health, family history, eye rubbing, allergy, asthma, eczema, education level, history of keratoplasty and smoking.ResultsTwo hundred and forty‐four patients completed the questionnaire. There was a male bias (54.5 per cent). The majority of the patients (78.7 per cent) wore contact lenses, of whom 67.7 per cent wore hard, 13 per cent soft and 4.2 per cent scleral contact lenses. Some of the patients (21.3 per cent) had undergone corneal graft surgery. Eighteen per cent had an associated systemic disease, the most common of which was type 2 diabetes, although this disease was less prevalent, but not significantly, in the keratoconic sample than in the general population (p = 0.19). The prevalence of eye rubbing (65.6 per cent) was similar to other studies. Compared to the general population, asthma (13.2 per cent) was slightly, but not significantly, less prevalent (p = 0.17), eczema (6.6 per cent) was significantly less (p < 0.001) and allergy (34.4 per cent) was more prevalent (p < 0.001). A high proportion of patients reported a family history of the disease (27.9 per cent) and most were better educated than the general population.ConclusionThe results of this survey concur with those of other studies with regard to most known characteristics of keratoconus; however, the proportion of asthma and eczema tended to be less than in other surveys and may be linked to the environmental influence of a hot and sunny country. The high prevalence of positive family history of the disease in this cohort suggests a genetic influence.

History of upper gastrointestinal cancers in relatives: a community-based estimate.

The present study aimed to evaluate the prevalence of positive family history of these cancers in a large population-based sample of Tehran province, capital of Iran. Upper gastrointestinal (UGI) cancers (gastric and esophagus cancer) constitute a major health problem worldwide. A family history of cancer can increase the risk for developing cancer and recognized as one of the most important risk factors in predicting personal cancer risk. This study designed as a cross-sectional survey in general population (2006-2007) of Tehran province. Totally 7,300 persons (age > = 20 years) sampled by random sampling on the basis of the list of postal, of whom 6,700 persons agreed to participate (response rate 92%). Respondents were asked if any first-degree (FDR) or second-degree (SDR) relatives had gastric or esophageal cancer. Totally, 6,453 respondents (48% male) entered to the study. The mean age of responders with positive FH was significantly higher than those with negative FH (P < 0.05). In total, 341 respondents (5.3%) reporting a history of UGI cancers in their relatives, 134(2.1%) in FDRs, and 207(3.2%) in SDRs. Our findings showed that the reported prevalence of FH of UGI cancers was relatively low and varied by specific respondent characteristics such as age and sex. However, the estimates of prevalence presented here are likely to be conservative compared with actual prevalence because of self-reported data gathering.

Familial aggregation in Progressive Supranuclear Palsy and Corticobasal Syndrome

Studies on familial aggregation might be of help to evaluate whether the genetic background has a key role in Progressive Supranuclar Palsy (PSP) and Corticobasal Syndrome (CBS). Only a few studies are available. To evaluate the prevalence of positive family history (FH) in PSP and CBS in a large sample of patients. Two hundred and thirty patients and 110 controls entered the study. Patients underwent an extensive clinical, neurological and neuropsychological assessment as well as a structural brain imaging study. A clinical follow-up further confirmed the diagnosis. Familial aggregation was carefully recorded by a standardised questionnaire. One hundred and twenty-nine PSP (age at onset = 66.6 +/- 7.3, female = 46.1%) and 101 CBS (age at onset = 62.8 +/- 8.9, female = 41.6%) were consecutively enrolled. Positive FH was found in 31.8% of PSP (n = 41) and in 31.7% of CBS (n = 32). Familial aggregation was lower in the age-matched control group compared to patient group (21.8%, P = 0.05). Patients with PSP had higher positive FH for Parkinsonism (63.4%) when compared to FH for dementia (36.6%). In CBS, FH was equally distributed between Parkinsonism (53.1%) and dementia (46.9%). In addition, FH was not associated with age at disease onset in PSP (FH+ versus FH-, 67.0 +/- 7.3 vs. 66.7 +/- 7.1, P = 0.788) and in CBS (62.6 +/- 7.9 vs. 62.9 +/- 9.5, P= 0.877). These results argue for familial aggregation in PSP and CBS, further underlying the importance of genetic background in these disorders. Further studies on possible genetic modulators or genetic epistasis contributing to PSP and CBS development are warranted.

Clinicopathological features of colorectal cancer in patients under 40 years of age

The aim was to identify the clinical factors and tumour characteristics that predict survival in patients younger than 40 years with colorectal adenocarcinoma. Fifty-nine patients with colorectal cancer aged under 40 years were identified from a computer database, and their clinical variables were analysed. The factors predicting long-term survival were compared by both univariate and multivariate analysis. The prevalence of positive family history of cancer was 27%, and predisposing factors were present in 31% of the patients. All patients underwent resective surgery, 76% radical and 24% palliative resection, and their 5-year survival was 59% and mean survival +/-75 months. The recurrence rate after radical resection was 38% being 14%, 30%, 78% and 100% in Dukes classes A, B, C and D. The cumulative 5-year survival of men, 45%, was significantly worse than that of women, 73%, and this phenomenon was closely related to more distended lymphatic and venous invasion of cancer in men. Kaplan-Meier estimates showed that gender, Dukes staging, grade of tumour, lymphatic invasion, the number of lymph nodes with metastases, venous invasion and size of tumour were significant predictors of survival, but in Cox regression model, only venous invasion was the independent prognostic factor of survival. Young men with colorectal cancer in Northern Finland have poorer prognosis than women. Venous invasion is an independent predictor of survival.

Solitary and multiple uterine leiomyomas among Caucasian women: two different disorders?

To investigate whether polymorphism in CYP17A1 gene is associated with uterine leiomyomas (ULM) and to evaluate differences in epidemiologic and genetic factors among solitary and multiple leiomyomas. Prospective case control study. Tertiary gynecology department. One hundred eighty-one women with clinically and surgically diagnosed ULM, 41 healthy control subjects, and 92 population control subjects. Completing the questionnaires, peripheral venous puncture. Polymerase chain reaction and restriction-fragment-length polymorphism analyses were performed to genotype women regarding the CYP17A1 -34 A/G (rs743572) gene polymorphisms. Epidemiologic data was collected by questionnaire and compared between women with ULM and healthy control subjects. Women with multiple ULM had higher prevalence of positive family history, lower age at menarche, lower parity, higher percentage of smoking, younger age at first sexual intercourse, lower prevalence of CYP17A1 AA genotype and lower CYP17A1 A allele frequency than healthy control subjects. These trends were not apparent among women with solitary ULM. Carriage of CYP17A1 AA is protective for developing ULM in our population. Women with solitary ULM mostly resembled healthy control subjects, whereas women with multiple ULM differed in CYP17A1 AA genotype and external stimuli.

Effect of family history on the risk of varicose veins is affected by differential misclassification

Objective We assessed differential misclassification in self-reported family history of varicose veins by comparing consistency of subject's own varicose vein status and the consistency of information on varicose veins in family members. Study Design and Setting A population-based cohort study of 4,903 middle-aged residents of the city of Tampere, Finland. A questionnaire was used at entry and at the end of the 5-year follow-up. Results The estimated prevalence of positive family history of varicose veins varied depending on subject's own varicose veins from odds ratio (OR) 0.14 (95% confidence interval [CI] = 0.01–0.58), in those with varicose veins reported in the first but not the second survey to OR 6.0 (95% CI = 2.0–47.8), in those with varicose veins reported in the second survey but not in the first. The incidence of varicose veins varied from 0.4 (95% CI = 0.1–1.4) to 4.1 (95% CI = 2.1–7.1) (per 100 person-years) depending how the proband memorized the family history. Conclusion Results on the effect of family history on varicose veins are subject to bias, which reduces the credibility of the reports proposing a strong hereditary component of varicose veins.