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1.

Introduction

Patients with spina bifida in the lumbosacral region usually have various degrees of motor and sensory dysfunctions of the lower extremities and anal sphincter. The aim of our study was to evaluate the distribution and differences in frequencies of affected muscles, number of affected muscles and degree of neurogenic lesion between patients with spina bifida occulta (SBO) and spina bifida aperta (SBA).

Material and methods

In 100 patients with SB, 6 muscles in the lower limbs were separately analysed. Due to the number of affected muscles, we evaluated 5 groups of patients: with 1 affected muscle, 2 affected muscles, 3 affected muscles, 4 affected muscles and 5 affected muscles. Three degrees of neurogenic lesions were assessed: mild, moderate and severe.

Results

The tibialis anterior muscle was most frequently affected in SB patients. The outer anal sphincter was frequently affected in the group of SBA patients. Single muscle affection is frequent in the group of patients with SBO, while in the group of patients with SBA, 4 muscles were significantly frequently affected. The great majority of patients (45.46%) with affected outer anal sphincter (OAS) in the group of SBO were without affection of other muscles, while for the SBA group it was for every third patient. Mild neurogenic lesion was significantly frequent in SBO patients, while severe form was significantly frequent in SBA patients.

Conclusions

Patients with SBO usually present with mild to moderate clinical presentation, while multiple root involvement and severe degree of neurogenic lesion is associated more frequently with SBA.  相似文献   

2.
In man, a malformation that recalls some of the defects associated with T/t mutants in the mouse is sacral agenesis. We report on a family with a high incidence of sacral malformation, ranging from a complete absence of the sacrum (SA), with or without spina bifida aperta, to a spina bifida occulta (SBO) that could only be detected by x-ray. The condition appeared in a man with four children who were all affect, and thereafter, to varying degrees, in 17 of his 28 descendants. Segregation analysis has been performed in this family, using the Elston and Stewart transmission probability model [1971]. The two traits (SA and SBO) were first studied separated and then together. A fully penetrant major dominant gene is show to cause SA. When the phenotypes SA and SBO are considered together, Mendelian transmission is rejected. This could be explained genetically by two alternative hypotheses: genetic heterogeneity or a dominant major gene transmitted in excess by heterozygotes (tau Aa A = 0.896), suggesting a segregation distortion property of an allele at a T-like locus.  相似文献   

3.

Background

While primary care systematically offers conventional cardiovascular risk assessment, genetic tests for coronary heart disease (CHD) are increasingly commercially available to patients. It is unclear how individuals may respond to these new sources of risk information.

Aim

To explore how patients who have had a recent conventional cardiovascular risk assessment, perceive additional information from genetic testing for CHD.

Design and setting

Qualitative interview study in 12 practices in Nottinghamshire from both urban and rural settings.

Method

Interviews were conducted with 29 adults, who consented to genetic testing after having had a conventional cardiovascular risk assessment.

Results

Individuals’ principal motivation for genetic testing was their family history of CHD and a desire to convey the results to their children. After testing, however, there was limited recall of genetic test results and scepticism about the value of informing their children. Participants dealt with conflicting findings from the genetic test, family history, and conventional assessment by either focusing on genetic risk or environmental lifestyle factors. In some participants, genetic test results appeared to reinforce healthy behaviour but others were falsely reassured, despite having an ‘above-average’ conventional cardiovascular risk score.

Conclusion

Although genetic testing was acceptable, participants were unclear how to interpret genetic risk results. To facilitate healthy behaviour, health professionals should explore patients’ understanding of genetic test results in light of their family history and conventional risk assessment.  相似文献   

4.

Objective

To evaluate the changes in Tp-e interval (an interval from the peak to the end of the T wave), QT interval and Tp-e/QT ratio of the body surface ECG in patients with left ventricular hypertrophy (LVH).

Methods

The Tp-e interval and QT interval were measured on body surface ECGs in 42 patients without either hypertension or LVH (control group), 41 patients having hypertension but not LVH (non-LVH group), and 38 patients with both hypertension and LVH (LVH group).

Results

The mean corrected QT (QTc) interval, and mean corrected Tp-e[T(p-e)c] interval were significantly longer in the LVH group (0.430±0.021s vs. 0.409±0.019s, p < 0.01; 0.098±0.013s vs. 0.088±0.011s, respectively) than those in the control group. The Tp-e/QT ratio was also amplified in LVH group (0.232±0.028 vs.0.218±0.027) (p < 0.05).

Conclusion

LVH increased the QT interval, Tp-e interval and Tp-e/QT ratio of the body surface ECG.  相似文献   

5.

Study Objectives:

Reports on the association of polymorphisms in the gene encoding apolipoprotein E (APOE)—a vital macromolecule in cholesterol metabolism—with obstructive sleep apnea (OSA) have provided conflicting results. Our objective was to meta-analytically synthesize the existing evidence for the association of the APOE ε4 allele with the risk of OSA.

Design:

Random effects meta-analysis and meta-regression

Setting:

Genetic epidemiological studies reporting the association of APOE ε4 allele with OSA susceptibility.

Patients or Participants:

Synthesis of APOE ε4 allele data from 6,508 subjects including 1,901 cases of OSA and 4,607 controls.

Interventions:

None

Measurements and Results:

Eight studies were included in the random effects meta-analysis; the summary effect size measured as odds ratio (OR) for association of the APOE ε4 allele with the risk of OSA was found to be 1.13 (95% confidence interval 0.86–1.47). There was a statistically significant heterogeneity (I2 = 72%, P = 0.001) across study results that was not explained by the mean age, proportion of males, or the proportion possessing the APOE ε4 allele or when grouped based on the geographic location of the study.

Conclusions:

The hypothesis that the APOE ε4 allele may be causally associated with OSA cannot be supported on the basis of published literature.

Citation:

Thakre TP; Mamtani MR; Kulkarni H. Lack of association of the APOE ε4 allele with the risk of obstructive sleep apnea: meta-analysis and meta-regression. SLEEP 2009;32(11):1507-1511.  相似文献   

6.

Background

Chronic kidney disease (CKD) is highly prevalent in patients with diabetes or hypertension in primary care. A shared care model could improve quality of care in these patients

Aim

To assess the effect of a shared care model in managing patients with CKD who also have diabetes or hypertension.

Design and setting

A cluster randomised controlled trial in nine general practices in The Netherlands.

Method

Five practices were allocated to the shared care model and four practices to usual care for 1 year. Primary outcome was the achievement of blood pressure targets (130/80 mmHg) and lowering of blood pressure in patients with diabetes mellitus or hypertension and an estimated glomerular filtration rate (eGFR)<60ml/min/1.73m2.

Results

Data of 90 intervention and 74 control patients could be analysed. Blood pressure in the intervention group decreased with 8.1 (95% CI = 4.8 to 11.3)/1.1 (95% CI = −1.0 to 3.2) compared to −0.2 (95% CI = −3.8 to 3.3)/−0.5 (95% CI = −2.9 to 1.8) in the control group. Use of lipid-lowering drugs, angiotensin-system inhibitors and vitamin D was higher in the intervention group than in the control group (73% versus 51%, 81% versus 64%, and 15% versus 1%, respectively, [P = 0.004, P = 0.01, and P = 0.002]).

Conclusion

A shared care model between GP, nurse practitioner and nephrologist is beneficial in reducing systolic blood pressure in patients with CKD in primary care.  相似文献   

7.
Spina bifida occulta of the sacrum is the most common type of spinal deformity. Many authors have published data on the frequency of spina bifida occulta, with varying results. Some possible reasons for this variability could include the differing methods used to gather data and differing ways of classifying the condition. This study attempts to develop an X-ray method to study sacral spina bifida occulta in a standardized fashion, using an angulated antero-posterior technique. This technique is then used to estimate the frequency of sacral spina bifida occulta in an Australian sample. The sacra of 53 cadavers were X-rayed and the level of closure of the sacral spinal canal recorded. The X-ray technique was validated by open dissection of six of the cadavers studied and was shown to be accurate to half a sacral segment. No sacra with a completely open sacral canal were found, two sacra (4%) were open from S2 down to S5 and ten sacra (19%) were open from S3 down to S5. The most common condition (43%) recorded was where S4 and S5 only were open. Eighteen cadavers (34%) showed only S5 open, and interestingly, no sacra were recorded as having the dorsal sacral arch completely closed. A study of a larger sample will follow using the validated X-ray technique.  相似文献   

8.

OBJECTIVE:

The pathophysiology of coronary slow flow has not been clearly defined, although multiple abnormalities including arteritis, endothelial dysfunction, and atherothrombosis, have been reported. It is known that eosinophils play an important role in inflammation, endothelial dysfunction, and thrombosis. We aimed to compare the eosinophil counts of coronary slow flow patients versus healthy controls.

METHODS:

This study included 50 coronary slow flow patients (19 males, mean age 65.6±13.7 years) and 30 healthy controls (10 males, mean age 57.86±11.6 years). These participants were evaluated using concurrent routine biochemical tests as well as neutrophil, lymphocyte, and eosinophil counts and mean platelet volume (MPV), which were obtained from the whole blood count. These parameters were compared between groups.

RESULTS:

The baseline characteristics of the study groups were comparable. The coronary slow flow patients had a higher mean platelet volume and eosinophil count than the control group (8.38±0.86 vs 6.28±1.6 fL and 0.31±0.42 vs 0.09±0.05; p<0.001 and 0.008, respectively).

CONCLUSION:

Our study demonstrated a relationship between eosinophil count and MPV in patients with coronary slow flow.  相似文献   

9.

Context:

Many models have been employed to replicate skeletal muscle injury associated with trauma; however, most are restricted to 1 level of severity.

Objective:

To create and validate an injury-producing device that could generate multiple levels of injury severity.

Design:

Validation study.

Patients or Other Participants:

Twenty-six male Wistar rats, 3 to 4 months old.

Intervention(s):

A contusion device was developed and its ability to deliver consistent impacts was validated alone and in the presence of an experimental animal. A free-falling mass (267 g) was adjusted to the desired height (40, 50, 60, or 70 cm) and then dropped.

Main Outcome Measure(s):

Peak load, peak displacement, impulse, energy, and velocity peak were measured. Injury severity was determined using magnetic resonance imaging.

Results:

Outcome measures observed from the device alone were different by height (F18,136  =  21.807, P < .001, 1−β  =  1.0). Outcomes using the experimental animals were also dependent on height (F14,102  =  68.679, P < .001, 1−β  =  1.0). Linear regression analyses indicated that height accounted for 17% to 89% of the variance.

Conclusions:

Mild to moderate and moderate to severe injuries can be replicated with this device, which will be useful in evaluating clinical treatments on acute muscle injury.  相似文献   

10.

Purpose

We investigated the association between the tryptohan hydroxylase 1 (TPH1) gene and aggression in schizophrenia in a Korean population.

Materials and Methods

The sample included 61 aggressive patients as well as 104 non-aggressive patients from psychiatric hospitals and 335 healthy volunteers in Korea. Blood samples were collected from all participants for TPH1 A218C genotyping. The patients were administered standard psychiatric interviews as well as a self-report questionnaire for anger-related traits.

Results

In the case-control phenotypic comparisons, there was no significant association between the aggressive patients and the TPH1 A218C polymorphism. There was no significant effect of the TPH1 genotype on the anger-related traits, or no significant interaction between the genotype and group (aggressive and non-aggressive patients).

Conclusion

These findings suggest that TPH1 does not play a major role in aggressive behavior via anger in schizophrenic patients.  相似文献   

11.
12.

Purpose

We aimed to discover clinical and angiographic predictors of microvascular dysfunction using the index of microcirculatory resistance (IMR) in patients with ST-segment elevation myocardial infarction (STEMI).

Materials and Methods

We enrolled 113 patients with STEMI (age, 56±11 years; 95 men) who underwent primary percutaneous coronary intervention (PCI). The IMR was measured with a pressure sensor/thermistor-tipped guidewire after primary PCI. The patients were divided into three groups based on IMR values: Low IMR [<18 U (12.9±2.6 U), n=38], Mid IMR [18-31 U (23.9±4.0 U), n=38], and High IMR [>31 U (48.1±17.1 U), n=37].

Results

The age of the Low IMR group was significantly lower than that of the Mid and High IMR groups. The door-to-balloon time was <90 minutes in all patients, and it was not significantly different between groups. Meanwhile, the symptom-onset-to-balloon time was significantly longer in the High IMR group, compared to the Mid and Low IMR groups (p<0.001). In the high IMR group, the culprit lesion was found in a proximal location significantly more often than in a non-proximal location (p=0.008). In multivariate regression analysis, age and symptom-onset-to-balloon time were independent determinants of a high IMR (p=0.013 and p=0.003, respectively).

Conclusion

Our data suggest that age and symptom-onset-to-balloon time might be the major predictors of microvascular dysfunction in STEMI patients with a door-to-balloon time of <90 minutes.  相似文献   

13.

Study Objectives:

To evaluate endothelium-dependent flow-mediated dilation (FMD) and endothelium–independent nitroglycerin (NTG)-induced dilation of the brachial artery with Doppler ultrasound in patients with obstructive sleep apnea (OSA) and impact of six months of continuous positive airway pressure (CPAP) treatment.

Design:

A prospective, controlled, observational study.

Setting:

Single-site, clinic-based.

Patients:

Twenty-nine normotensive men with OSA (apnea-hypopnea index [AHI], mean ± SD, 60.4 ± 22.1-h), and 17 men without OSA (AHI 2.5 ± 0.6-h).

Interventions:

Six months of CPAP therapy in OSA patients.

Measurements and Results:

FMD was lower in patients with OSA compared with in controls (7.19 ± 1.78 % vs 10.93 ± 2.59 %; P < 0.001) while NTG-induced vasodilation was similar in both groups (13.75 ± 1.01 % vs 14.25 ± 1.83 %; n.s.). An inverse relationship was found between FMD and AHI adjusted for age and body mass index (BMI) (β = − 0.05, P < 0.001). Following 6 months of CPAP treatment in the OSA group, FMD was increased from 7.38 ± 2.06 % to 10.45 ± 1.68; P = 0.001) in 20 patients compliant with the device whereas the corresponding values did not change in the non-user group (7.08 ± 1.50% vs 7.26 ± 1.01%). No significant changes were observed regarding the NTG–induced vasodilation after CPAP compared with the baseline values.

Conclusion:

Our results confirm the previous reports suggesting impaired endothelium-dependent FMD in OSA, and additionally document the sustained improvement in endothelial function after 6 months of CPAP treatment in complaint patients.

Citation:

Bayram NA; Ciftci B; Keles T; Durmaz T; Turhan S; Bozkurt E; Peker Y. Endothelial function in normotensive men with obstructive sleep apnea before and 6 months after CPAP treatment. SLEEP 2009;32(10):1257-1263.  相似文献   

14.

Background

Breast cancer is the commonest malignancy of women in Nigeria. Change in serum levels of some biochemical parameters could assist diagnosis and follow-up of breast cancer.

Objective

To determine serum levels of calcium, inorganic phosphates, alkaline phosphatase (ALP) and acid phosphatase (ACP) activities in patients with breast cancer, and change in the serum levels over time.

Methods

Total serum calcium and inorganic phosphates, and serum ALP and ACP activities were determined in 25 women with breast cancer and 25 age-matched controls using colorimetric and enzymatic methods, over 6 months with bimonthly analysis.

Results

The serum calcium level, ALP and ACP activities were significantly higher (p<0.05) in the study group than in the control group. No significant difference was seen in the inorganic phosphate levels of both groups. There were significant increases in serum calcium levels, ALP and ACP activities in the study group with time (p<0.05), whereas no significant increase was observed in the control group.

Conclusion

Breast cancer patients have higher calcium levels and higher ALP and ACP activities. The increase in the levelsof these parameters with time shows that they could be of importance in monitoring treatment and disease progress in a resource-poor setting.Key words: Breast cancer, serum calcium, inorganic phosphate, alkaline phosphatase, acid phosphatase, tumor markers  相似文献   

15.

Study Objectives:

To examine the joint effect of insomnia and objective short sleep duration on neuropsychological performance.

Design:

Representative cross-sectional study.

Setting:

Sleep laboratory.

Participants:

1,741 men and women randomly selected from central Pennsylvania.

Interventions:

None.

Measurements:

Insomnia (n = 116) was defined by a complaint of insomnia with a duration ≥ 1 year and the absence of sleep disordered breathing (SDB), while normal sleep (n = 562) was defined as the absence of insomnia, excessive daytime sleepiness, and SDB. Both groups were split according to polysomnographic sleep duration into 2 categories: ≥ 6 h of sleep (“normal sleep duration”) and < 6 h of sleep (“short sleep duration”). We compared the groups'' performance on a comprehensive neuropsychological battery that measured processing speed, attention, visual memory, and verbal fluency, while controlling for age, race, gender, education, body mass index, and physical and mental health.

Results:

No significant differences were detected between insomniacs and controls. However, the insomnia with short sleep duration group compared to the control with normal or short sleep duration groups showed poorer neuropsychological performance in variables such as processing speed, set-switching attention, and number of visual memory errors and omissions. In contrast, the insomnia with normal sleep duration group showed no significant deficits.

Conclusions:

Insomnia with objective short sleep duration is associated with deficits in set-switching attentional abilities, a key component of the “executive control of attention.” These findings suggest that objective sleep duration may predict the severity of chronic insomnia, including its effect on neurocognitive function.

Citation:

Fernandez-Mendoza J; Calhoun S; Bixler EO; Pejovic S; Karataraki M; Liao D; Vela-Bueno A; Ramos-Platon MJ; Sauder KA; Vgontzas AN. Insomnia with objective short sleep duration is associated with deficits in neuropsychological performance: a general population study. SLEEP 2010;33(4):459-465.  相似文献   

16.

Context:

Psychological variables have been shown to be related to athletic injury and time missed from participation in sport. We are unaware of any empirical examination of the influence of psychological variables on time to onset of injury.

Objective:

To examine the influence of orthopaedic and psychosocial variables on time to injury in college athletes.

Patients or Other Participants:

One hundred seventy-seven (men  =  116, women  =  61; age  =  19.45 ± 1.39 years) National Collegiate Athletic Association Division II athletes.

Main Outcome Measure(s):

Hurdle regression analysis (HRA) was used to determine the influence of predictor variables on days to first injury.

Results:

Worry (z  =  2.98, P  =  .003), concentration disruption (z  =  −3.95, P < .001), and negative life-event stress (z  =  5.02, P < .001) were robust predictors of days to injury. Orthopaedic risk score was not a predictor (z  =  1.28, P  =  .20).

Conclusions:

These findings support previous research on the stress-injury relationship, and our group is the first to use HRA in athletic injury data. These data support the addition of psychological screening as part of preseason health examinations for collegiate athletes.  相似文献   

17.

Context:

Anterior instability and impingement are common in overhead athletes and have been associated with decreases in internal rotation (IR) and increases in external rotation (ER) motion. However, the chronology and the effect of different female sports on these conditions have yet to be determined.

Objective:

To measure glenohumeral IR and ER rotation, total range of motion, and scapular position in female overhead athletes over a single competitive season.

Design:

Multiple group pretest-posttest study.

Setting:

High school.

Patients or Other Participants:

Thirty-six female overhead athletes (age  =  15.29 ± 1.18 years, height  =  164.16 ± 7.14 cm, mass  =  58.24 ± 9.54 kg) with no history of shoulder or elbow surgery participating in high school swimming, volleyball, or tennis.

Intervention(s):

Participants were measured for all dependent variables at preseason and postseason.

Main Outcome Measure(s):

Participants were measured for glenohumeral IR and ER with the scapula stabilized. Total glenohumeral range of motion was calculated as the sum of IR and ER. Scapular upward rotation was measured at 0°, 60°, 90°, and 120° of glenohumeral abduction in the scapular plane, and scapular protraction was measured at 0°, 45° (hands on hips), and 90° of glenohumeral abduction.

Results:

Internal rotation decreased from preseason to postseason (P  =  .012). Swimmers had less IR than both volleyball and tennis players (P  =  .001). External rotation also decreased in the swimmers (P  =  .001). Overall, preseason to postseason total motion decreased for athletes participating in swimming (P  =  .001) and tennis (P  =  .019). For all participants, preseason to postseason scapular protraction at 45° glenohumeral abduction decreased (P  =  .007).

Conclusions:

Female overhead athletes demonstrated decreases in IR after only one competitive season. Clinically, our results indicate that overhead athletes should be monitored for motion changes throughout their competitive seasons.  相似文献   

18.

Context:

As health care providers, certified athletic trainers (ATs) should be role models for healthy behaviors.

Objective:

To analyze the self-reported health and fitness habits of ATs.

Design:

A cross-sectional, cluster random sample.

Setting:

Online questionnaire.

Patients or Other Participants:

Of a sampling frame of 1000 potential participants, 275 ATs completed the questionnaire.

Main Outcome Measure(s):

Health habits and activity were based on a typical 7-day week.

Results:

A total of 41% of the participants met the exercise recommendations of the American College of Sports Medicine; 7% reported being sedentary. Differences were noted between the sexes for fitness habits (P < .035) and composite health score (P < .001). None of the ATs reported meeting the Daily Reference Intake for all 5 food groups. Seven percent of female ATs consumed more alcohol than recommended, compared with 2% of males. However, 80% of males and 93% of females reported consuming 5 or fewer drinks per week. Only 0.8% reported currently smoking.

Conclusions:

This sample of ATs had better health and fitness habits than the general population but did not meet professional recommendations set forth by the American College of Sports Medicine or the United States Department of Agriculture. Thus, these ATs were not ideal role models in demonstrating healthy behaviors.  相似文献   

19.

Introduction

Breast cancer and acquired immunodeficiency syndrome (AIDS) are key issues for modern medicine. The aim of the current study was to present how cytokines, in the example of IL-6 and its polymorphism, can affect these two conditions.

Material and methods

Thirty-one women with benign breast tumours, 42 breast cancer patients and 40 HIV-infected females were enrolled in the study. Serum IL-6 levels were determined by ELISA. The IL-6 polymorphism was genotyped by PCR-RFLP.

Results

Serum IL-6 in patients with benign breast tumours was significantly lower than in females with breast cancer (p = 0.017) and HIV-infected women (p = 0.032). We did not find statistically significant differences in serum IL-6 level between females with breast cancer and HIV-infected women (p = 0.749). Comparing the distribution of genotypes and frequency of the IL-6 (–174) C/G polymorphism between the three study groups – breast cancer patients, patients with benign breast tumours, and HIV-infected patients – we did not find any statistically significant differences.

Conclusions

IL-6 can play an important role in pathogenesis of breast cancer and HIV infection and its level is higher than in the control group irrespective of distribution of genotypes and frequency of the IL-6 (–174) C/G polymorphism.  相似文献   

20.

Background

In many UK general practices, nurses have been used to deliver results against the indicators of the Quality and Outcomes Framework (QOF), a ‘pay for performance’ scheme.

Aim

To determine the association between the level of nurse staffing in general practice and the quality of clinical care as measured by the QOF.

Design of the study

Cross-sectional analysis of routine data.

Setting

English general practice in 2005/2006.

Method

QOF data from 7456 general practices were linked with a database of practice characteristics, nurse staffing data, and census-derived data on population characteristics and measures of population density. Multi-level modelling explored the relationship between QOF performance and the number of patients per full-time equivalent nurse. The outcome measures were achievement of quality of care for eight clinical domains as rated by the QOF, and reported achievement of 10 clinical outcome indicators derived from it.

Results

A high level of nurse staffing (fewer patients per full-time equivalent practice-employed nurse) was significantly associated with better performance in 4/8 clinical domains of the QOF (chronic obstructive pulmonary disease, coronary heart disease, diabetes, and hypertension, P = 0.004 to P<0.001) and in 4/10 clinical outcome indicators (diabetes: glycosylated haemoglobin [HbA1C] ≤7.4%, HbA1C ≤10% and total cholesterol ≤193 mg/dl; and stroke: total cholesterol ≤5 mmol/L, P = 0.0057 to P<0.001).

Conclusion

Practices that employ more nurses perform better in a number of clinical domains measured by the QOF. This improved performance includes better intermediate clinical outcomes, suggesting real patient benefit may be associated with using nurses to deliver care to meet QOF targets.  相似文献   

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