Normal Population (normal + population)

Distribution by Scientific Domains
Distribution within Medical Sciences


Selected Abstracts


Age Dependency of Myocardial Structure: A Quantitative Two-Dimensional Echocardiography Study in a Normal Population

ECHOCARDIOGRAPHY, Issue 3 2000
MARIA-AURORA MORALES M.D.
Histological changes of the myocardium occur with aging due to an increase in collagen content, hypertrophy of fibers, and patchy fibrosis. Quantitative analysis of conventional echocardiographic images provides an in vivo assessment of myocardial structure by the evaluation of the gray level distribution; with this technique, a relation between myocardial fibrosis and pathological ultrasonic response has been documented. The aim of this study was to evaluate the relation between ultrason-ically assessed myocardial structure and age in a normal population. Seventy-eight subjects (47 men; mean age, 51 years; age range, 23,87 years) without apparent cardiovascular and systemic disease underwent conventional two-dimensional echocardiographic examinations. Still frames at end-diastole from apical four-chamber view were digitized and converted in matrices of 256 × 256 pixels. First-order statistical analysis was performed to describe a region of interest in the interventricular septum. The following parameters were studied: mean (gray level amplitude), standard deviation (overall contrast), uniformity (tonal organization), and entropy (tendency of gray levels to be spread). Myocardial structure was assessed in 75 of 78 subjects, divided into three groups: I, age 23,40 years; II, age 41,65 years; and III, > 65 years. Significant differences for all the parameters were found between the age groups. Age correlated directly with mean and entropy (r = 0.77 and 0.69, respectively) and inversely with uniformity (r = 0.70). Our results suggest that quantitative echocardiography can reveal age-related changes in myocardial structure that are characterized by a greater echogenicity and loss in tonal organization, possibly due to increased collagen content within the fibers. [source]


Ventricular Asynchrony of Time-to-Peak Systolic Velocity in Structurally Normal Heart by Tissue Doppler Imaging

ECHOCARDIOGRAPHY, Issue 7 2010
Hakimeh Sadeghian M.D.
Background: Echocardiographic measurements of time-to-peak systolic velocities (Ts) are helpful for assessing the degree of cardiac asynchrony. We assessed the degree of ventricular asynchrony in structurally normal heart according to Ts by tissue Doppler imaging. Methods: We performed conventional echocardiography and tissue velocity imaging for 65 healthy adult volunteers to measure the Ts of 12 left ventricular segments in the mid and basal levels delay of Ts and standard deviation (SD) of Ts in all and basal segments. Six frequently used markers of dyssynchrony were measured and were also compared between men and women. Data are presented as median (25th and 75th percentile). Results: Septal-lateral and anteroseptal-posterior delays were 50 (20, 90) and 20 (0, 55) ms. The delay between the longest and the shortest Ts in basal and all segments were 100 (80, 120) and 110 (83, 128) ms, respectively. SD of Ts was 39 (24, 52) ms for basal and 41 (28, 51) ms for all segments. Overall, 76.9% of cases had at least one marker of dyssynchrony. Frequencies of dyssynchrony markers were almost significantly higher in women compared to men. The most frequently observed dyssynchrony marker was SD of Ts of all segments (70.8%) and the lowest was anteroseptal-posterior delay (21.5%). Conclusions: Normal population almost had dyssynchrony by previously described markers and many of these markers were more frequent in women. Conducting more studies on normal population by other tissue Doppler modalities may give better description of cardiac synchronicity. (Echocardiography 2010;27:823-830) [source]


New reference for the age at childhood onset of growth and secular trend in the timing of puberty in Swedish

ACTA PAEDIATRICA, Issue 6 2000
YX Liu
The objectives of the present work were to present a new reference for the age at childhood onset of growth and to investigate the secular trend in the timing of puberty in a community-based normal population in Sweden. A total of 2432 children with longitudinal length/height data from birth to adulthood were used to determine the two measures by visual inspection of the measured attained length/height and the change in growth velocity displayed on a computer-generated infancy-childhood-puberty (ICP) based growth chart. The series represents a sample of normal full-term children born around 1974 in Göteborg, Sweden. We found about 10% of children were delayed (>12 mo of age) in the childhood onset of growth based on the previous reported normal range, i.e. 14% in boys and 8% in girls. Distribution of the age at childhood onset of growth was skewed. The medians were 10 and 9 mo for boys and girls, respectively. After natural logarithmic transformation, the mean and standard deviation (SD) were 2.29 (anti-log 9.9 mo) and 0.226 for boys, 2.23 (anti-log 9.3 mo) and 0.220 for girls, respectively. The 95% normal ranges were 6.3-15.4 and 6.0-14.3 for boys and girls, respectively. The distribution of the timing of PHV was close to the normal distribution. The mean values were 13.5 y for boys and 11.6 y for girls with 1 y SD for both sexes. Conclusion: A downward secular trend in the onset of puberty was clearly shown in the population. The age at childhood onset of growth did not correlate with the timing of puberty (r=,0.01 and 0.05, p > 0.7 and 0.1 in boys and girls, respectively). Normal ranges of the age at childhood onset of growth are in need of revise, as this study indicates. The new reference presented here could be a reliable indicator in further studies. [source]


Sensitive skin: closing in on a physiological cause

CONTACT DERMATITIS, Issue 3 2010
Miranda A. Farage
The phenomenon of ,sensitive skin' is a relatively recent complaint in which certain individuals report more intense and frequent adverse sensory effects than the normal population upon use of cosmetic (personal-care) products. Originally defined as a minority complaint, sensitive skin is now claimed by a majority of women in industrialized countries and nearly half of men. Sensitive skin is self-diagnosed and typically unaccompanied by any obvious physical signs of irritation, and the number of individuals who claim sensitivity has risen steadily with the number of consumer products targeted towards this supposedly uncommon group. Believed by many dermatologists, therefore, to be a ,princess and the pea' phenomenon, the problem of sensitive skin has largely avoided focussed research. Over the last few years, however, the evidence of documentable biophysical changes associated with the largely sensory symptoms of this disorder has accumulated, including some gained by improved methods of identifying subclinical signs of skin irritation. Although the understanding of the aetiology of this phenomenon is as yet incomplete, existing research now supports a biophysical origin for this disorder. Effective methods of diagnosis, intrinsic and extrinsic contributors to exaggerated neural sensitivity, and the specific mechanisms of the discomfort associated with the compliant are required, as are appropriate means of prevention and treatment. [source]


Sensory, clinical and physiological factors in sensitive skin: a review

CONTACT DERMATITIS, Issue 1 2006
Miranda A. Farage
Certain individuals experience more intense and frequent adverse sensory effects than the normal population after topical use of personal care products, a phenomenon known in popular usage as sensitive skin. Consumer reports of sensitive skin are self-diagnosed and often not verifiable by objective signs of physical irritation. Companies who manufacture cosmetic and personal care products are challenged to provide safe products to an audience with tremendous differences in skin type, culture and habits. This review examines the still incomplete understanding of this phenomenon with respect to aetiology, diagnosis, appropriate testing methods, possible contributing host factors such as, sex, ethnicity, age, anatomical site, cultural and environmental factors, and the future directions needed for research. [source]


Isokinetic and isometric muscle strength in a healthy population with special reference to age and gender

ACTA PHYSIOLOGICA, Issue 2009
B. Danneskiold-Samsře
Abstract Aim:, Muscle strength is an excellent indicator of general health when based on reliable measurements. Muscle strength data for a healthy population are rare or non-existent. The aim of the present study was to measure a set of normal values for isometric and isokinetic muscle strength for all the major joint movements of the body and, from these data, to create a basis for comparison of the muscle strength of an individual with the expected value in a normal population. Methods:, A randomly selected group, aged 20,80 years, from the Copenhagen City Heart Study were studied. The group was subgrouped according to age and gender. Isometric and isokinetic muscle strength was measured in each subject across the main joints in the body. A statistical model was developed that encompassed the three main muscle groups: upper limbs, trunk and lower limbs. Results:, Muscle strength in healthy men decreases in a linear fashion from the age of 25 years down to between 54% and 89% at the age of 75 years, and seems not highly dependent on any other parameter than age. For women, the muscle strength is dependent on weight and is only related to age from around 40 years of age. The decrease in muscle strength from the age around 40 to 75 years is 48,92%. For most muscle groups, men are 1.5,2 times stronger than women, with the oldest men having strength similar to that observed among the youngest women. Conclusion:, We developed a model to compare the isometric and isokinetic muscle strength of all the major joint movements of an individual with values for a healthy man or woman at any age in the range of 20,80 years. In all age groups, women have lower muscle strength than men. Men's muscle strength declines with age, while women's muscle strength declines from the age of 41 years. [source]


Mood states, sympathetic activity, and in vivo ,-adrenergic receptor function in a normal population

DEPRESSION AND ANXIETY, Issue 7 2008
Bum-Hee Yu M.D. Ph.D.
Abstract The purpose of this study was to examine the relationship between mood states and ,-adrenergic receptor function in a normal population. We also examined if sympathetic nervous system activity is related to mood states or ,-adrenergic receptor function. Sixty-two participants aged 25,50 years were enrolled in this study. Mood states were assessed using the Profile of Mood States (POMS). ,-adrenergic receptor function was determined using the chronotropic 25 dose isoproterenol infusion test. Level of sympathetic nervous system activity was estimated from 24-hr urine norepinephrine excretion. Higher tension-anxiety, depression-dejection, and anger-hostility were related to decreased ,-adrenergic receptor sensitivity (i.e., higher chronotropic 25 dose values), but tension-anxiety was the only remaining independent predictor of ,-adrenergic receptor function after controlling for age, gender, ethnicity, and body mass index (BMI). Urinary norepinephrine excretion was unrelated to either mood states or ,-adrenergic receptor function. These findings replicate previous reports that anxiety is related to decreased (i.e., desensitized) ,-adrenergic receptor sensitivity, even after controlling for age, gender, ethnicity, and body mass index. Depression and Anxiety 0:1,6, 2007. © 2007 Wiley-Liss, Inc. [source]


Pap smear findings in chronic renal failure patients compared with the normal population according to Bethesda 2001

DIAGNOSTIC CYTOPATHOLOGY, Issue 11 2008
Asuman Nihan Haberal M.D.
Abstract Dialysis remains the most common treatment for end-stage renal disease (ESRD). Although the increased risk of cancer after renal transplant is well documented, there is less certainty about the risk of cancer in patients treated only with dialysis. From 1997 to 2002, 262 ESRD patients received a Pap test at Ba,kent University. The smears of 149 patients who had ESRD for more than 9 months were compared with the smears of 150 otherwise healthy patients. All of the Pap smears were re-examined according to Bethesda 2001 criteria. The mean age of the patients was 42.88 years. Regarding micro-organisms, no statistically significant difference between the groups were observed. In 36 Pap smears, a shift in flora suggestive of bacterial vaginosis was detected. There were statistically significant differences between the groups. When age was considered as a marker of atrophy, atrophy in patients younger than 50 years was statistically different between the groups. Also, we determined that the shift in flora suggestive of bacterial vaginosis and atrophy in patients aged younger than 50 years did not depend on the length of hemodialysis. Of 13 patients (4.3%) who had epithelial cell abnormalities there were not statistically significant differences between the groups. In conclusion, according to our study, CRF seems not to be a predictive factor for cervical cancer. Shift in flora suggestive of bacterial vaginosis and atrophy in patients aged younger than 50 years might be the natural effects of uremia, and they appear not to be dependent on the length of the hemodialysis period. Diagn. Cytopathol. 2008;36:776,779. © 2008 Wiley-Liss, Inc. [source]


Review of validation studies of the Edinburgh Postnatal Depression Scale

ACTA PSYCHIATRICA SCANDINAVICA, Issue 4 2001
Malin Eberhard-Gran
Objective: ,To review validation studies of the Edinburgh Postnatal Depression Scale (EPDS). Method: ,A systematic search was performed in Medline and the Science Citation Index Expanded (ISI) from the period 1987,2000. For sensitivity and specificity of the EPDS presented in each study, 95% confidence intervals were estimated. Positive and negative predictive values were estimated assuming prevalences of postpartum depression ranging from 5% to 20%. Results: ,Eighteen validation studies were identified. The study design varied between studies. The sensitivity and specificity estimates also varied: 65,100% and 49,100%, respectively. The confidence intervals were estimated to be wide. Our estimates suggest a lower positive predictive value in a normal population than in the validation study samples. Conclusion: ,Most studies show a high sensitivity of the EPDS. Because of the differences in study design and large confidence intervals, uncertainty remains regarding the comparability between the sensitivity and specificity estimates of the different EPDS versions. [source]


Ventricular Asynchrony of Time-to-Peak Systolic Velocity in Structurally Normal Heart by Tissue Doppler Imaging

ECHOCARDIOGRAPHY, Issue 7 2010
Hakimeh Sadeghian M.D.
Background: Echocardiographic measurements of time-to-peak systolic velocities (Ts) are helpful for assessing the degree of cardiac asynchrony. We assessed the degree of ventricular asynchrony in structurally normal heart according to Ts by tissue Doppler imaging. Methods: We performed conventional echocardiography and tissue velocity imaging for 65 healthy adult volunteers to measure the Ts of 12 left ventricular segments in the mid and basal levels delay of Ts and standard deviation (SD) of Ts in all and basal segments. Six frequently used markers of dyssynchrony were measured and were also compared between men and women. Data are presented as median (25th and 75th percentile). Results: Septal-lateral and anteroseptal-posterior delays were 50 (20, 90) and 20 (0, 55) ms. The delay between the longest and the shortest Ts in basal and all segments were 100 (80, 120) and 110 (83, 128) ms, respectively. SD of Ts was 39 (24, 52) ms for basal and 41 (28, 51) ms for all segments. Overall, 76.9% of cases had at least one marker of dyssynchrony. Frequencies of dyssynchrony markers were almost significantly higher in women compared to men. The most frequently observed dyssynchrony marker was SD of Ts of all segments (70.8%) and the lowest was anteroseptal-posterior delay (21.5%). Conclusions: Normal population almost had dyssynchrony by previously described markers and many of these markers were more frequent in women. Conducting more studies on normal population by other tissue Doppler modalities may give better description of cardiac synchronicity. (Echocardiography 2010;27:823-830) [source]


Age Dependency of Myocardial Structure: A Quantitative Two-Dimensional Echocardiography Study in a Normal Population

ECHOCARDIOGRAPHY, Issue 3 2000
MARIA-AURORA MORALES M.D.
Histological changes of the myocardium occur with aging due to an increase in collagen content, hypertrophy of fibers, and patchy fibrosis. Quantitative analysis of conventional echocardiographic images provides an in vivo assessment of myocardial structure by the evaluation of the gray level distribution; with this technique, a relation between myocardial fibrosis and pathological ultrasonic response has been documented. The aim of this study was to evaluate the relation between ultrason-ically assessed myocardial structure and age in a normal population. Seventy-eight subjects (47 men; mean age, 51 years; age range, 23,87 years) without apparent cardiovascular and systemic disease underwent conventional two-dimensional echocardiographic examinations. Still frames at end-diastole from apical four-chamber view were digitized and converted in matrices of 256 × 256 pixels. First-order statistical analysis was performed to describe a region of interest in the interventricular septum. The following parameters were studied: mean (gray level amplitude), standard deviation (overall contrast), uniformity (tonal organization), and entropy (tendency of gray levels to be spread). Myocardial structure was assessed in 75 of 78 subjects, divided into three groups: I, age 23,40 years; II, age 41,65 years; and III, > 65 years. Significant differences for all the parameters were found between the age groups. Age correlated directly with mean and entropy (r = 0.77 and 0.69, respectively) and inversely with uniformity (r = 0.70). Our results suggest that quantitative echocardiography can reveal age-related changes in myocardial structure that are characterized by a greater echogenicity and loss in tonal organization, possibly due to increased collagen content within the fibers. [source]


Cardiac Autonomic Control in Patients with Refractory Epilepsy before and during Vagus Nerve Stimulation Treatment: A One-Year Follow-up Study

EPILEPSIA, Issue 3 2006
Eija Ronkainen
Summary:,Purpose: To elucidate possible effect of vagus nerve stimulation (VNS) therapy on interictal heart rate (HR) variability in patients with refractory epilepsy before and after 1-year VNS treatment. Methods: A 24-hour electrocardiogram (ECG) was recorded at the baseline and after 12 months of VNS treatment in 14 patients with refractory epilepsy, and once in 28 healthy age- and sex-matched control subjects. Time and frequency domain measures, along with fractal and complexity measures of HR variability, were analyzed from the ECG recordings. Results: The mean value of the RR interval (p = 0.008), standard deviation of N-N intervals (SDNN) (p < 0.001), very-low frequency (VLF) (p < 0.001), low-frequency (LF) (p = 0.001), and high-frequency (HF) (p = 0.002) spectral components of HR variability, and the Poincaré components SD1 (p = 0.005) and SD2 (p < 0.001) of the patients with refractory epilepsy were significantly lower than those of the control subjects before VNS implantation. The nocturnal increase in HR variability usually seen in the normal population was absent in patients with refractory epilepsy. VNS had no significant effects on any of the HR-variability indexes despite a significant reduction in the frequency of seizures. Conclusions: HR variability was reduced, and the nocturnal increase in HR variability was not present in patients with refractory epilepsy. One-year treatment with VNS did not have a marked effect on HR variability, suggesting that impaired cardiovascular autonomic regulation is associated with the epileptic process itself rather than with recurrent seizures. [source]


An exploration of anger phenomenology in multiple sclerosis

EUROPEAN JOURNAL OF NEUROLOGY, Issue 12 2009
U. Nocentini
Background and purpose:, Multiple sclerosis (MS) patients are often emotionally disturbed. We investigated anger in these patients in relation to demographic, clinical, and mood characteristics. Patients and methods:, About 195 cognitively unimpaired MS patients (150 relapsing,remitting and 45 progressive) were evaluated with the State Trait Anger Expression Inventory, the Chicago Multiscale Depression Inventory, and the State Trait Anxiety Inventory. The patients' anger score distribution was compared with that of the normal Italian population. Correlation coefficients among scale scores were calculated and mean anger scores were compared across different groups of patients by analysis of variance. Results:, Of the five different aspects of anger, levels of withheld and controlled Anger were respectively higher and lower than what is expected in the normal population. Although anger was correlated with anxiety and depression, it was largely independent from these mood conditions. Mean anger severity scores were not strongly influenced by individual demographic characteristics and were not higher in more severe patients. Conclusions:, The presence of an altered pattern of anger, unrelated to the clinical severity of MS, suggests that anger is not an emotional reaction to disease stress. An alteration of anger mechanisms might be a direct consequence of the demyelination of the connections among the amygdale, the basal ganglia and the medial prefrontal cortex. [source]


Characterization of sequence variations in human histone H1.2 and H1.4 subtypes

FEBS JOURNAL, Issue 14 2005
Bettina Sarg
In humans, eight types of histone H1 exist (H1.1,H1.5, H1°, H1t and H1oo), all consisting of a highly conserved globular domain and less conserved N- and C-terminal tails. Although the precise functions of these isoforms are not yet understood, and H1 subtypes have been found to be dispensable for mammalian development, it is now clear that specific functions may be assigned to certain individual H1 subtypes. Moreover, microsequence variations within the isoforms, such as polymorphisms or mutations, may have biological significance because of the high degree of sequence conservation of these proteins. This study used a hydrophilic interaction liquid chromatographic method to detect sequence variants within the subtypes. Two deviations from wild-type H1 sequences were found. In K562 erythroleukemic cells, alanine at position 17 in H1.2 was replaced by valine, and, in Raji B lymphoblastoid cells, lysine at position 173 in H1.4 was replaced by arginine. We confirmed these findings by DNA sequencing of the corresponding gene segments. In K562 cells, a homozygous GCC,GTC shift was found at codon 18, giving rise to H1.2 Ala17Val because the initial methionine is removed in H1 histones. Raji cells showed a heterozygous AAA,AGA codon change at position 174 in H1.4, corresponding to the Lys173Arg substitution. The allele frequency of these sequence variants in a normal Swedish population was found to be 6.8% for the H1.2 GCC,GTC shift, indicating that this is a relatively frequent polymorphism. The AAA,AGA codon change in H1.4 was detected only in Raji cells and was not present in a normal population or in six other cell lines derived from individuals suffering from Burkitt's lymphoma. The significance of these sequence variants is unclear, but increasing evidence indicates that minor sequence variations in linker histones may change their binding characteristics, influence chromatin remodeling, and specifically affect important cellular functions. [source]


Proposal of a standard approach to dental extraction in haemophilia patients.

HAEMOPHILIA, Issue 5 2000
A case-control study with good results
We found no case,control studies on dental extraction in haemophilia patients in the literature even though the use of antifibrinolytic agents following a single infusion of factor VIII or IX has been accompanied by a lower number of bleeding complications in dental extractions. In this study we verified the incidence of bleeding complications after dental extraction in a group of 77 haemophilia patients. One hundred and eighty-four male patients requiring dental extraction represented the control group. All haemophilia patients received 20 mg kg,1 of tranexamic acid and a single infusion of factor VIII or IX to achieve a peak level about 30% of factor VIII or IX in vivo prior to dental extraction. Forty-five of 98 (45.9%) dental extractions in haemophilia patients and 110 of 239 (46%) dental extractions in the control group were surgical ones. We registered two bleeding complications in the group of haemophilia patients (one late bleeding and one haematoma in the site of the anaesthetic injection) and one (a late bleeding) in the control group. The difference of bleeding complications in the two groups of patients were not statistically significant (P=0.2; OR 0.2; CI 0.01,2.22). The protocol proposed in this study, characterized by the feasibility and the number of haemorrhagic complications not different from normal population, make dental extractions in haemophilia patients possible on an out-patient basis with a cost reduction for the community and minor discomfort for the patients. [source]


Prevalence rate of Cryptosporidium infection in hemodialysis patients in Iran

HEMODIALYSIS INTERNATIONAL, Issue 4 2006
Shiva SEYRAFIAN
Abstract Cryptosporidium is one of the most common causes of diarrhea in the world, which can be severe and prolonged in immunocompromised patients. We compared the prevalence rate of Cryptosporidium infection in hemodialysis patients and 2 control groups (i.e., their healthy family members and normal population). Stool specimens of 104 adult outpatient chronic hemodialysis patients, their 91 healthy family members, and 140 healthy individuals were examined for the presence of Cryptosporidium oocysts by using a modified acid-fast staining method. Twelve (11.5%) dialysis patients were infected with Cryptosporidium. This was significantly higher than 4 (4.4%), and 5 (3.6%) cases in the 2 control groups, respectively (p<0.05). There was no significant difference between the 2 control groups. The prevalence rate of Cryptosporidium infection did not correlate with patients' sex, age, duration of dialysis, history of kidney transplantation, or history of taking immunosuppressive drugs. However, it was significantly higher in diabetics vs. nondiabetics (19.4% vs. 8.3%, respectively, p<0.05). Our results indicate that the prevalence rate of Cryptosporidium infection is considerably higher in dialysis patients than in the general population. Moreover, dialyzed diabetic patients had the highest rate of infection. As hemodialysis patients are candidates for renal transplantation, general preventive measures against acquiring Cryptosporidium infection must be considered. [source]


m.6267G>A: a recurrent mutation in the human mitochondrial DNA that reduces cytochrome c oxidase activity and is associated with tumors,

HUMAN MUTATION, Issue 6 2006
M. Esther Gallardo
Abstract Complete sequencing of the mitochondrial genome of 13 cell lines derived from a variety of human cancers revealed nine novel mitochondrial DNA (mtDNA) variations. One of them, m.6267G>A, is a recurrent mutation that introduces the Ala122Thr substitution in the mitochondrially encoded cytochrome c oxidase I (MT-CO1): p.MT-CO1: Ala122Thr (GenBank: NP_536845.1). Biochemical analysis of the original cell lines and the transmitochondrial cybrids generated by transferring mitochondrial DNAs to a common nuclear background, indicate that cytochrome c oxidase (COX) activity, respiration, and growth in galactose are impaired by the m.6267G>A mutation. This mutation, found twice in the cancer cell lines included in this study, has been also encountered in one out of 63 breast cancer samples, one out of 64 colon cancer samples, one out of 260 prostate cancer samples, and in one out of 15 pancreatic cancer cell lines. In all instances the m.6267G>A mutation was associated to different mtDNA haplogroups. These findings, contrast with the extremely low frequency of the m.6267G>A mutation in the normal population (1:2264) and its apparent absence in other pathologies, strongly suggesting that the m.6267G>A missense mutation is a recurrent mutation specifically associated with cancer. Hum Mutat 27(6), 575,582, 2006. © 2006 Wiley-Liss, Inc. [source]


Contribution of the LRP5 Gene to Normal Variation in Peak BMD in Women,

JOURNAL OF BONE AND MINERAL RESEARCH, Issue 1 2005
Daniel L Koller
Abstract The role of the LRP5 gene in rare BMD-related traits has recently been shown. We tested whether variation in this gene might play a role in normal variation in peak BMD. Association between SNPs in LRP5 and hip and spine BMD was measured in 1301 premenopausal women. Only a small proportion of the BMD variation was attributable to LRP5 in our sample. Introduction: Mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene have been implicated as the cause of multiple distinct BMD-related rare Mendelian phenotypes. We sought to examine whether the LRP5 gene contributes to the observed variation in peak BMD in the normal population. Materials and Methods: We genotyped 12 single nucleotide polymorphisms (SNPs) in LRP5 using allele-specific PCR and mass spectrometry methods. Linkage disequilibrium between the genotyped LRP5 SNPs was measured. We tested for association between these SNPs and both hip and spine BMD (adjusted for age and body weight) in 1301 healthy premenopausal women who took part in a sibling pair study aimed at identifying the genes underlying peak bone mass. Our study used both population-based (ANOVA) and family-based (quantitative transmission disequilibrium test) association methodology. Results and Conclusions: The linkage disequilibrium pattern and haplotype block structure within the LRP5 gene were consistent with that observed in other studies. Although significant evidence of association was found between LRP5 SNPs and both hip and spine BMD, only a small proportion of the total variation in these phenotypes was accounted for. The genotyped SNPs accounted for ,0.8% of the variation in femoral neck BMD and 1.1% of the variation in spine BMD. Results from our sample suggest that natural variation in and around LRP5 is not a major contributor to the observed variability in peak BMD at either the femoral neck or lumbar spine in white women. [source]


Development of a Novel Immunoradiometric Assay Exclusively for Biologically Active Whole Parathyroid Hormone 1,84: Implications for Improvement of Accurate Assessment of Parathyroid Function

JOURNAL OF BONE AND MINERAL RESEARCH, Issue 4 2001
Ping Gao
Abstract We developed a novel immunoradiometric assay (IRMA; whole parathyroid hormone [PTH] IRMA) for PTH, which specifically measures biologically active whole PTH(1,84). The assay is based on a solid phase coated with anti-PTH(39,84) antibody, a tracer of125I-labeled antibody with a unique specificity to the first N-terminal amino acid of PTH(1,84), and calibrators of diluted synthetic PTH(1,84). In contrast to the Nichols intact PTH IRMA, this new assay does not detect PTH(7,84) fragments and only detects one immunoreactive peak in chromatographically fractionated patient samples. The assay was shown to have an analytical sensitivity of 1.0 pg/ml with a linear measurement range up to 2300 pg/ml. With this assay, we further identified that the previously described non-(1,84)PTH fragments are aminoterminally truncated with similar hydrophobicity as PTH(7,84), and these PTH fragments are present not only in patients with secondary hyperparathyroidism (2° -HPT) of uremia, but also in patients with primary hyperparathyroidism (1° -HPT) and normal persons. The plasma normal range of the whole PTH(1,84) was 7,36 pg/ml (mean ± SD: 22.7 ± 7.2 pg/ml, n = 135), whereas over 93.9% (155/165) of patients with 1° -HPT had whole PTH(1,84) values above the normal cut-off. The percentage of biologically active whole PTH(1,84) (pB%) in the pool of total immunoreactive "intact" PTH is higher in the normal population (median: 67.3%; SD: 15.8%; n = 56) than in uremic patients (median:53.8%; SD: 15.5%; n = 318; p < 0.001), although the whole PTH(1,84) values from uremic patients displayed a more significant heterogeneous distribution when compared with that of 1° -HPT patients and normals. Moreover, the pB% displayed a nearly Gaussian distribution pattern from 20% to over 90% in patients with either 1° -HPT or uremia. The specificity of this newly developed whole PTH(1,84) IRMA is the assurance, for the first time, of being able to measure only the biologically active whole PTH(1,84) without cross-reaction to the high concentrations of the aminoterminally truncated PTH fragments found in both normal subjects and patients. Because of the significant variations of pB% in patients, it is necessary to use the whole PTH assay to determine biologically active PTH levels clinically and, thus, to avoid overestimating the concentration of the true biologically active hormone. This new assay could provide a more meaningful standardization of future PTH measurements with improved accuracy in the clinical assessment of parathyroid function. [source]


Pagetoid dyskeratosis of the prepuce.

JOURNAL OF CUTANEOUS PATHOLOGY, Issue 8 2000
An incidental histologic finding resembling extramammary Paget's disease
Background: Pale cells resembling those of paget's disease have been seen as an incidental finding within the epidermis in a variety of benign papules most commonly located in intertriginous areas. This lesion, called pagetoid dyskeratosis, is considered a reactive process in which a small part of the normal population of keratinocytes is induced to proliferate. Among the inductors friction is suspected. As far as we know, these cells have not been reported in the penis. Methods: Here we describe the location of the lesion in the foreskin and the incidence of this lesion in a group of 281 unselected patiets surgically treated for phimosis. In selected cases histochemical staining and immunohistochemical studies were performed. Results: Pagetoid dyskeratosis was found in 105 cases (37.4%) but only in 5 cases (1.8%) the lesion was conspicuous. The cells of pagetoid dyskeratosis show an immunohistochemical profile different from the surrounding keratinocytes characterized by premature keratinization. Pagetoid dyskeratosis cells must be distinguished from the artefactual clear cells of the epidermis, from reactive melanocytes, and from pale-cell acanthosis. In cases in which pagetoid dyskeratosis shows a florid expression there is a hazard of overdiagnosis to the patient. The main differential diagnosis includes extramammary Paget's disease, pagetoid squamous cell carcinoma in situ, epidermotropic metastasis, superficial spreading malignant melanoma, clear cell papulosis, and penile koilocytoses. Conclusions: The pathologist should be familiar with the histologic features of pagetoid dyskeratosis in the foreskin in order to avoid misdiagnosis and unnecessary treatment. Routine histologic study is usually sufficient to identify the lesion. [source]


Evaluation of low PAI-1 activity as a risk factor for hemorrhagic diathesis

JOURNAL OF THROMBOSIS AND HAEMOSTASIS, Issue 1 2006
A. ĹGREN
Summary.,Background: Prospective studies of the epidemiology and clinical significance of low plasminogen activator inhibitor type 1 (PAI-1) activity are lacking. Objective: To evaluate the prevalence of low PAI-1 activity in patients with a bleeding tendency in comparison with a normal population. Methods: In 586 consecutive patients, referred because of bleeding symptoms, we added analyses of PAI-1 activity and tissue plasminogen activator complex with PAI-1 (t-PA,PAI-1) to the routine investigation, consisting of platelet count, bleeding time, prothrombin time, activated partial thromboplastin time, fibrinogen, factor VIII, von Willebrand factor activity, and antigen. Controls were 100 blood donors and 100 age- and sex-matched healthy individuals. The latter were also evaluated regarding the previous bleeding episodes. The bleeding history was classified as clinically significant or not, and the criteria were fulfilled in 75% of the patients and 18% of the healthy controls. Results: The routine laboratory investigation of the patients was negative in 57%. Low PAI-1 activity, defined as <1.0 U mL,1, was found in 23% of the patients and in 13% and 10% of the blood donors and healthy controls, respectively (odds ratio and 95% CI, 2.04; 1.11,3.77 and 2.75; 1.39,5.42, respectively). The difference remained statistically significant after the adjustment for body mass index, use of estrogens, sex and age (odds ratio for patients vs. healthy controls 3.23; 95% CI, 1.22,8.56, P = 0.019). The distribution of the 4G/5G genotypes in the patients was not different from that of two control populations. No specific symptom predicted for low PAI-1, which did not aggravate the clinical picture in association with the other hemostatic defects. Low tPA,PAI-1 was not associated with the increased bleeding tendency. Conclusion: Low PAI-1 activity is common in patients with a bleeding diathesis, but it is a risk factor of minor clinical importance and not associated with specific bleeding manifestations. [source]


Quality of life after liver transplantation for alcoholic liver disease

LIVER TRANSPLANTATION, Issue 6 2000
Stephen P. Pereira
There are few data on predictive factors for alcohol relapse or long-term functional outcome after liver transplantation for alcoholic liver disease (ALD). In all 56 surviving UK patients (47 men, 9 women; mean age: 51 years; range: 33 to 69 years) who underwent transplantation for ALD at King's College Hospital over a 10-year period, alcohol relapse and outcome were assessed by outpatient and case-note review and by postal questionnaire containing (1) the Nottingham Health Profile (NHP), (2) the Short-Form-36 (SF-36) Health Survey, and (3) a drug and alcohol questionnaire. At a median of 2.5 years (range: 0.5 to 10 years), 13 of the 47 respondents (28%) and 2 of the 9 nonrespondents (22%) had evidence of potentially harmful drinking (>3 units daily) at some time posttransplantation. An additional 13 patients admitted to drinking some alcohol at least once, corresponding to an overall relapse rate of 50%. The patients with harmful drinking (1) had started drinking regularly at a younger age (18 v 25 years; P = .01), (2) began drinking heavily at a younger age (30 v 40 years; P = .01), (3) had shorter pretransplantation abstinence periods (10 v 23 months; P = .02), and (4) had a longer time since transplantation (median, 5.7 v 1.5 years; P = .0004) than those with no or mild alcohol relapse. They were also more likely to report sleep disturbance (NHP sleep problem score, 45 v 16; P = .01) and use benzodiazepines regularly (7 of 13 v 3 of 34 patients; P = .002). Despite these differences, health dimension scores in the SF-36 and NHP posttransplantation were similar between the groups and to those of UK community controls. In the long term, at least 50% of the patients will drink again at some time posttransplantation, although at lower levels of alcohol intake than previously. Those patients with multiple predictive factors for alcohol relapse may be at greatest risk for harmful drinking and be the group that would benefit most from professional counseling. Overall, the quality of life after liver transplantation for ALD is high and broadly similar to the levels expected in the normal population. [source]


SCA2 may present as levodopa-responsive parkinsonism

MOVEMENT DISORDERS, Issue 4 2003
Haydeh Payami PhD
Abstract Some kindreds with familial parkinsonism exhibit genetic anticipation, suggesting possible involvement of trinucleotide repeat expansion. Recent reports have shown trinucleotide repeat expansions in the spinocerebellar ataxia 2 (SCA2) gene in patients with levodopa-responsive parkinsonism. We tested 136 unrelated patients with familial parkinsonism for SCA2 mutations. Two probands had borderline mutations; the rest were normal. (,31 repeats is normal, 32,35 is borderline, ,36 is pathogenic). The expanded allele segregated with neurological signs in one kindred. The absence of borderline mutations in the normal population, and the co-segregation of the expanded allele with neurological signs in one kindred suggest that SCA2 mutations may be responsible for a subset of familial parkinsonism. © 2002 Movement Disorder Society [source]


Quantitative measurement of muscle fiber composition in a normal population

MUSCLE AND NERVE, Issue 1 2003
Ingrid Toft MD
Abstract To obtain normative muscle morphology data on a healthy population recruited from a population survey, we examined vastus lateralis biopsies from 58 men and 33 women, aged 26,67 years. Biopsies were measured with automated, computer-aided techniques. Data were analyzed according to gender and age, and the influence of blood pressure, body mass index (BMI), and smoking habits was also examined. Men had larger muscle fibers (fiber area ,5,400 ,m2) than women (,4,000 ,m2, P = 0.003). No gender differences were seen in fiber composition, fiber roundness, percentage of connective tissue, or capillary density. Blood pressure did not influence fiber size or composition, but was correlated with fiber roundness in men. BMI was associated with fiber area in men, but not in women. Variations in age, smoking habits, and physical activity did not influence muscle morphology data substantially. Thus, in a normal population, men have larger muscle fibers than women, but similar fiber composition. Variation in gender, BMI, blood pressure, and physical activity may influence morphological features to a minor degree. Muscle Nerve 28: 101,108, 2003 [source]


Effectiveness of two conservative modes of physical therapy in women with urinary stress incontinence

NEUROUROLOGY AND URODYNAMICS, Issue 5 2001
Tiina Arvonen
Abstract Stress incontinence is the most prevalent form of female urinary incontinence and it affects approximately 5% of younger women to nearly 50% of elderly women. Women have traditionally been treated with pelvic floor muscle exercises alone or with the use of vaginal cones. A new treatment mode, vaginal balls, has been developed. The aim of this study was to compare pelvic floor muscle training with and without vaginal balls and to collect information on women's subjective feelings about the two training modes. The study was carried out as a prospective randomized clinical trial. Thirty-seven women aged 25,65 were assigned either to a pelvic floor muscle training program or to a training program using weighted vaginal balls for 4 months. Treatment outcomes were assessed by a pad-test with a standardized bladder volume, vaginal palpation, and by women's self-reported perceptions. The sense of coherence score was compared with the score for a normal population. Ninety-three percent of the women completed the study. Both training modes were effective in reducing urinary leakage: with vaginal balls (P,<,0.0001) and without (P,<,0.019); and increasing pelvic floor muscle strength: with vaginal balls (P,<,0.0039) and without (P,<,0.0002). However, the reduction of urinary leakage after four months of exercise in the training group with vaginal balls was significantly better (P,<,0.03) than the results in the group training with pelvic floor muscle exercises alone. The study found the weighted vaginal balls to be a good alternative for training pelvic floor muscles in women with stress urinary incontinence. Neurourol. Urodynam. 20:591,599, 2001. © 2001 Wiley-Liss, Inc. [source]


Comparison of the IOPen® and iCare® rebound tonometers with the Goldmann tonometer in a normal population

OPHTHALMIC AND PHYSIOLOGICAL OPTICS, Issue 1 2010
J. Jorge
Abstract This study proposes to evaluate the level of accuracy of intraocular pressure (IOP) measurements of a second generation rebound tonometer (IOPen®), taking as references the Goldmann Applanation Tonometer (GAT) and the iCare® rebound tonometer. The right eyes of 101 consecutive clinical patients were assessed with the three tonometers. The IOPen® and iCare® measurements were taken by two different optometrists and the GAT by an ophthalmologist. In this study, statistically significant differences were found when comparing the IOPen® tonometer with the other two tonometers (p < 0.001). The IOPen® underestimated the IOP value when compared to the GAT and the iCare® (mean differences were 2.94 ± 4.65 mmHg and 3.20 ± 4.72 mmHg (mean ± S.D.), respectively). The frequency distribution of differences demonstrated that in more than 55% of measurements the IOP readings differed by more than 3 mmHg between the IOPen® and the GAT. Based on the present population study, these results suggest that IOPen® measurements should be interpreted with caution. [source]


Depressive symptoms amongst asthmatic children's caregivers

PEDIATRIC ALLERGY AND IMMUNOLOGY, Issue 4p2 2010
Alexandra Szabó
Szabó A, Mezei G, K,vári É, Cserháti E. Depressive symptoms amongst asthmatic children's caregivers. Pediatr Allergy Immunol 2010: 21: e667,e673. © 2009 John Wiley & Sons A/S We wanted to find out, whether the number of depressive symptoms is higher amongst asthmatic children's caregivers, compared to international data, to the Hungarian population average, and to parents of children with chronic renal disease. Are these depressive symptoms connected to the children's psychological status, asthma severity or current asthma symptoms? One-hundred and eight, 7- to 17-yr-old asthmatic children were enrolled, who have been treated at the Semmelweis University, First Department of Pediatrics. Children were suffering from asthma for at least 1 yr, with a median of 8 yr (1,16 yr), they started to develop asthmatic symptoms between the age of 0.5,14 yr (median: 3 yr). We also identified 27 children with chronic renal diseases and their caregivers, who functioned as a control group. Children were asked to complete the Hungarian-validated versions of the Child Depression Inventory, the Spielberger State Anxiety Inventory for Children and the Juniper Pediatric Asthma Quality of Life Questionnaire. Asthma severity and current symptoms were also documented, 56% had no symptoms on the preceding week. Caregivers were asked to complete the Hungarian versions of the Beck Depression Inventory (BDI) short form, the Spielberger Anxiety Inventory and the Juniper Pediatric Asthma Caregivers' Quality of Life Questionnaire. Caregivers of asthmatic children had significantly more depressive symptoms (7.73 ± 6.69 s.d.) than the age-specific normal population (p < 0.01). Caregivers of renal patients also experience more depressive symptoms (9.61 ± 7.43 s.d.) than their healthy peers, but difference between the two chronic diseases' group did not prove to be significant. Asthmatic children's caregivers who scored more points on the BDI than the population average suffer from more anxiety symptoms, but their quality of life is not worse than the caregivers' with less depressive points. Depressive symptoms were neither connected to the children's psychological and asthmatic symptoms nor quality of life. Amongst caregivers of asthmatic children, at least mild depressive symptoms were represented amongst 39% of men and 33% of women. Gender difference was not significant, despite observations in the normal Hungarian population. Amongst caregivers of renal patients, depressive symptoms were represented in 14% of men and 50% of women. Gender difference was significant. (p = 0.05). Significant difference was observed between male asthmatic and renal caregivers, albeit difference was not significant between the female groups. No difference was found in depressive symptoms according to caregivers' level of education. Caregivers of children with asthma have more depressive symptoms than the average Hungarian population, but their results do not differ from caregivers taking care of children with chronic renal diseases. Caregivers of asthmatic children having at least mild depressive symptoms tend to have higher anxiety symptoms as well. Up to date, childhood chronic disease management and long-term care should also focus on parental psychology, mainly on depression and anxiety, as prevalence is higher than in the average population. [source]


The effectiveness of a peer support camp for siblings of children with cancer,

PEDIATRIC BLOOD & CANCER, Issue 5 2006
Ranita Sidhu BSc OT
Abstract Background Siblings of children with cancer have higher levels of psychological stress and adaptational difficulties compared to siblings of healthy children and children with other chronic illness. This is the first study to report on the mental health of Australian siblings of children with cancer and examines the effects of a therapeutic peer support camp,Camp Onwards, as an intervention. Procedure A protocol, designed to reduce levels of distress, improve social competence, and improve knowledge about the impact of cancer and its treatment was developed. Siblings (n,=,26) 8,13 years were assessed using standardised self-report measures pre and post intervention and at ,8 weeks follow-up with: the Behaviour Assessment for Children (BASC) (Reynolds & Kamphaus, 1992), Self Perception Profile for Children (SPP-C) (Harter, 1985), Sibling Perception Questionnaire (SPQ) (Carpenter & Sahler, 1991). Results Change was measured using paired t tests. At pre-test, 40% of the sample demonstrated increased levels of emotional distress when compared to the normal population. Post intervention, siblings reported lower levels of distress demonstrated by decreased anxiety (P,=,0.01) and positive changes in the Self Report of Personality [BASC] (P,=,0.00). Improved social competence was noted in the interpersonal domain of the SPQ (P,=,0.01) and also greater social acceptance scores on the SPP-C (P,=,0.01). Improved knowledge about the impact of cancer and its treatment was evidenced by significant reductions in the fear of disease domain on the SPQ (P,=,0.01). Conclusions Siblings who attended Camp Onwards demonstrated improved mental health outcomes that were sustained at follow-up, demonstrating its effectiveness as an intervention strategy in supporting sibling adjustment. Pediatr Blood Cancer 2006; 47:580,588. © 2005 Wiley-Liss, Inc. [source]


Thyroid function abnormalities among first-degree relatives of Iranian congenital hypothyroidism neonates

PEDIATRICS INTERNATIONAL, Issue 3 2010
Mahin Hashemipour
Abstract Background:, Congenital hypothyroidism (CH) is a relatively common metabolic disease in neonates. Until recent years the disorder was usually regarded as occurring in a sporadic manner. Over the past few years, however, a considerable proportion of familial cases have been identified, and possible roles of autoimmune factors suggested. The aim of the present study was to evaluate abnormality of thyroid function tests in first-degree relatives of CH neonates and compared this to the normal population. Methods:, From 2002 until 2007 thyroid function tests (T4 and thyroid-stimulating hormone [TSH]) were done in randomly selected CH and normal neonates (n= 194 and n= 350, respectively) and their first-degree relatives. Most mothers of the CH neonates and control groups were also evaluated for thyroid peroxidase antibody (TPOAb). Results:, Thyroid function test in first-degree relative of neonates with CH (361 parents, 136 siblings) were compared with those in control groups (665 parents, 478 siblings). Abnormal thyroid function tests were found in 85 patients in the CH group versus 96 patients in the control group; hypothyroidism was found in 75 (15.1%) and 57 subjects (5%) person in the CH and control groups, respectively (P < 0.05). Positive TPO antibody was found in 22 mothers (17.3%) of CH neonates in comparison with 65 mothers (32.5%) of control groups (P < 0.05). Frequency of hyperthyroidism in parents of control group had trend to be higher than parents of CH neonates (P= 0.05) Conclusion:, Familial and genetic components play a role in inheritance of CH, but maternal thyroid autoimmunity may not play an important role in the development of CH in Iran. [source]


Severe ,0 thalassemia/hemoglobin E disease caused by de novo 22-base pair duplication in the paternal allele of , globin gene

AMERICAN JOURNAL OF HEMATOLOGY, Issue 7 2007
Ponlapat Rojnuckarin
Abstract , Thalassemia is a major public health concern in Southeast Asia. A prevention program has been implemented in Thailand comprising mass carrier screening and genetic testing. In this study, a Thai girl with severe , thalassemia/hemoglobin (Hb) E disease was born from the mother with Hb E trait and the genotypically normal father. DNA sequencing revealed novel 22-bp tandem duplication in the paternal allele of , globin gene, producing a severely truncated product. A short recurring nucleotide at the insertion site suggested a predisposition to this mutation. Therefore, spontaneous , globin mutations occasionally occur in normal population. Its clinical significance is noteworthy in countries with high prevalence of , thalassemia. Am. J. Hematol 2007. © 2006 Wiley-Liss, Inc. [source]