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1.
Eighteen- and 25-month-old human toddlers’ ability to manually solve a puzzle and their ability to anticipate the goal during observation of similar actions were investigated. Results demonstrate that goal anticipation during action observation is dependent on manual ability, both on a group level (only 25-month-olds solved the manual task and anticipated the goal during observation) and individually within the older age group (r xy  = 0.53). These findings suggests a connection between manual ability and the ability to anticipate the goal of others’ actions in toddlers, in accordance with the direct matching hypothesis.  相似文献   

2.
The purpose of this study was to evaluate fitness and health adaptations from a training program riding all-terrain vehicles (ATV) and off-road motorcycles (ORM) as the exercise stimulus. Participants (n = 58) were randomized to a control group (n = 12) or one of four experimental groups; 2 days/week ATV (n = 11), 2 days/week ORM (n = 12), 4 days/week ATV (n = 11), or 4 days/week ORM (n = 12). Aerobic fitness, musculoskeletal fitness, body composition, clinical health, and quality of life (QOL) were compared at baseline and following 6 weeks of training. In all riding groups, there were improvements in blood pressure (SBP = 9.4 ± 10.1, DBP = 5.8 ± 6.2 mmHg), fasting glucose (0.5 ± 0.7 mmol/l), subcutaneous adiposity (0.9 ± 1.1%), body mass (0.7 ± 2.7 kg), waist circumference (1.3 ± 2.5 cm), and isometric leg endurance (26 ± 44 s). All changes were of moderate to large magnitude (Cohen’s d 0.52–0.94) with the exception of a small loss of body mass (Cohen’s d = 0.27). Although changes occurred in the riding groups for aerobic power (2.9 ± 4.6 ml kg−1 min−1), leg power (172 ± 486 w), and curl-ups (13.2 ± 22.7), these changes were not significantly different from the control group. No significant alterations occurred in resting heart rate, trunk flexibility, back endurance, hand grip strength, long jump, pull/push strength, or push-up ability as a result of training. Physical domain QOL increased in all 2 days/week riders but mental domain QOL increased in all ORM, but not ATV riders regardless of volume. Ambient carbon monoxide levels while riding (<30 ppm) were within safe exposure guidelines. Positive adaptations can be gained from a training program using off-road vehicle riding as the exercise stimulus.  相似文献   

3.
To investigate the efficacy of classical massage on stress perception and mood disturbances, 34 women diagnosed with primary breast cancer were randomized into an intervention or control group. For a period of 5 weeks, the intervention group (n = 17) received biweekly 30-min classical massages. The control group (n = 17) received no additional treatment to their routine health care. The Perceived Stress Questionnaire (PSQ) and the Berlin Mood Questionnaire (BSF) were used and the patients’ blood was collected at baseline (T1), at the end of the intervention period (T2), and 6 weeks after T2 (T3). Compared with control group, women in the intervention group reported significantly lower mood disturbances, especially for anger (p = 0.048), anxious depression (p = 0.03) at T2, and tiredness at T3 (p = 0.01). No group differences were found in PSQ scales, cortisol and serotonin concentrations at T2 and T3. However, perceived stress and cortisol serum levels (p = 0.03) were significantly reduced after massage therapy (T2) compared with baseline in the intervention group. Further research is needed to validate our findings.  相似文献   

4.
Remodeling of vaginal extracellular matrix and smooth muscle likely plays a critical role in reducing the risk of maternal injury during vaginal delivery by altering the mechanical properties to increase distension and reduce stress. Long-Evans rats were divided into five groups to examine the passive mechanical and active contractile properties throughout pregnancy and postpartum: virgin (n = 17), mid-pregnant (Day 14–16, n = 12), late-pregnant (Day 20–22, n = 14), immediate postpartum (0–2 h after delivery, n = 14), and 4 week postpartum (n = 15). Longitudinal sections of vaginal tissue were loaded to failure uniaxially for passive mechanical or active contractile properties were examined. For passive mechanics, the tangent modulus decreased 45% by mid-pregnancy and immediately postpartum (p < 0.001). The ultimate strain continuously increased up to 43% higher than virgin animals (p = 0.007) in the immediate postpartum group. For active mechanics, the maximal contractile force was 36–56% lower through immediate postpartum animals, and was significantly more sensitive to K+ throughout pregnancy and postpartum (p = 0.003). The changes observed in the passive and active properties of the rat vagina are consistent with what would be expected from a tissue that is remodeling to maximize its ability to distend at the time of vaginal delivery to facilitate passage of the fetus with minimal injury.  相似文献   

5.
Introduction. Existing eye-tracking literature has shown that both adults and children with autism spectrum disorders (ASD) show fewer and slower fixations on faces. Despite this reduced saliency and processing of other faces, recognition of their own face is reported to be more “typical” in nature. This study uses eye-tracking to explore the typicality of gaze patterns when children with ASD attend their own faces compared to other familiar and unfamiliar faces.

Methods. Eye-tracking methodology was used to explore fixation duration and time taken to fixate on the Eye and Mouth regions of familiar, unfamiliar and Self Faces. Twenty-one children with ASD (9–16 years) were compared to typically developing matched groups.

Results. There were no significant differences between children with ASD and typically matched groups for fixation patterns to the Eye and Mouth areas of all face types (familiar, unfamiliar and self). Correlational analyses showed that attention to the Eye area of unfamiliar and Self Faces was related to socio-communicative ability in children with ASD.

Conclusions. Levels of socio-communicative ability in children with ASD were related to gaze patterns on unfamiliar and Self Faces, but not familiar faces. This lack of relationship between ability and attention to familiar faces may indicate that children across the autism spectrum are able to fixate these faces in a similar way. The implications for these findings are discussed.  相似文献   

6.
《Explore (New York, N.Y.)》2023,19(4):594-599
ContextAutism spectrum disorder (ASD) is the most common neurodevelopmental disorder and is increasingly reported among school-age children in India. Many children with ASD attend special schools which extend support for learning basic functional and academic skills. Problem behaviors and lack of social responsiveness are frequently associated with children with ASD in a school environment. Many evidence-based studies have explored various interventions in mitigating the lack of social responsiveness and problem behaviors in children. Few studies have examined the impact of yoga on social responsiveness and problem behaviors in special schools.ObjectiveThe objective of the study was to highlight the effect of school-based yoga on the social responsiveness and problem behaviors of children with ASD in special schools. Forty-three children with ASD from four special schools participated in the study.DesignA randomized controlled trial (RCT) design was employed for the study. Children with ASD (n = 43) from four special schools were assessed by their teachers for social responsiveness and problem behaviors with the Social Responsiveness Scale-2 (SRS-2) and Aberrant Behavior Checklist-2 (ABC-2) at the baseline and after the yoga intervention.InterventionStructured yoga of 45 min for 12 weeks was conducted across four special schools with simple yoga practices conducive to children with ASD.ResultsSignificant changes were observed post-intervention in the mean scores of the social communication aspect in social responsiveness (p = .021), irritability (p = .041), and social withdrawal (p = .047) aspects of problem behaviors.  相似文献   

7.
In this study, 51 piglets originating from five different sows were included in the investigations. The animal source of all sows had a history of Clostridium perfringens type A (β2) infection. The piglets of three sows (n = 31) were experimentally infected with Isospora suis within the first 4 h after birth and were randomly assigned to the treatment group or the sham-dosing group. The piglets of the two remaining sows (n = 20) served as I. suis-uninfected controls. Twelve hours post-infection, the animals in the treatment group (n = 15) were treated with toltrazuril (20 mg/kg BW, Baycox? 5% suspension). During an observation period of 14 days faecal consistency, faecal oocyst counts, faecal germ counts, mortality, body weight development and clinical status were recorded. One piglet per study group and litter was necropsied, and intestinal tissue samples were taken for histopathological investigations and in situ hybridisation on study days (SDs) 3 and 14. I. suis-infected but untreated piglets showed clinical disease resulting in liquefaction of faeces and decreased body weight development. In 59.2% of the observations, I. suis-infected but untreated piglets showed abnormal faecal consistencies whereas only 12.0% or respectively 4.4% of the faecal samples had a pasty consistency in the I. suis-infected–treated or in the control animals. The mean body weight at the end of the study was 3.37 kg in the I. suis-infected but untreated piglets while the average body weight in the I. suis-infected–treated animals was calculated as 4.42 kg and the control animal’s mean body weight was 4.45 kg. Moreover, mortality, occurring between SDs 8 and 14, in this study group was 38.5% (n = 5), with 30.8% (n = 4) died from necrotic enteritis. In contrast, no piglets died in the I. suis-uninfected control group or in the toltrazuril-treated study group. The results of this study corroborate the hypothesis that simultaneous infection with I. suis and C. perfringens type A soon after birth leads to distinct interactions between the two pathogens and result in an increase in clinical disease, mortality and metabolically active C. perfringens type A.  相似文献   

8.
This study analysed the reliability and validity of two intermittent running tests (the Yo–Yo IR1 test and the Andersen test) as tools for estimating VO2max in children under the age of 10. Two groups, aged 6–7 years (grade 0, n = 18) and 8–9 years (grade 2, n = 16), carried out two repetitions of a modified Yo–Yo IR1 test (2 × 16 m) and the Andersen test, as well as an incremental treadmill test, to directly determine the VO2max. No significant differences were observed in test–retest performance of the Yo–Yo IR1 test [693 ± 418 (±SD) and 670 ± 328 m, r 2 = 0.79, CV = 19%, p > 0.05, n = 32) and the Andersen test (988 ± 77 and 989 ± 87 m, r 2 = 0.86, CV = 3%, p > 0.05, n = 31). The Yo–Yo IR1 (r 2 = 0.47, n = 31, p < 0.002) and Andersen test performance (r 2 = 0.53, n = 32, p < 0.001) correlated with the VO2max. Yo–Yo IR1 performance correlated with Andersen test performance (r 2 = 0.74, n = 32, p < 0.0001). In conclusion, the Yo–Yo IR1 and the Andersen tests are reproducible and can be used as an indicator of aerobic fitness for 6- to 9-year-old children.  相似文献   

9.
In esophageal neoplasms, the histopathologic differentiation between Barrett’s esophagus with or without intraepithelial neoplasia and adenocarcinoma is often challenging. Immunohistochemistry might help to differentiate between these lesions. The expression of CDX2, LI-cadherin, mucin 2 (MUC2), blood group 8 (BG8, Lewisy), claudin-2, and villin was investigated in normal gastroesophageal (n = 23) and in Barrett’s (n = 17) mucosa, in low-grade (n = 12) and high-grade (n = 9) intraepithelial neoplasia (IEN) as well as in esophageal adenocarcinoma (n = 16), using immunohistochemistry. For CDX2 and LI-cadherin, the immunoreactivity score was highest in IEN while for MUC2, BG8, and villin, it dropped gradually from Barrett’s via IEN to adenocarcinoma, and expression of Claudin-2 was only weak and focal in all lesions. The expression of MUC2 and LI-cadherin differed significantly between all examined lesions except between low-grade and high-grade IEN. MUC2 and LI-cadherin are useful immunohistochemical markers for the differentiation between normal glandular mucosa, Barrett’s mucosa, IEN, and invasive carcinoma of the esophagus; however, none of the examined markers was helpful for the differentiation between low-grade and high-grade IEN.  相似文献   

10.
This experiment addressed the often-posed theory that age-related declines in manual dexterity result from diminished tactile function. We measured the time ’young’ subjects (n=33; mean=45 years) and ’old’ subjects (n=33; mean=74 years) needed to grip (thumb and index finger), lift, and transport a small metal sphere when vision was permitted and when blindfolded. Subjects began each trial by reaching for the sphere and were instructed to complete the entire task quickly. In the absence of visual information, placement of the finger and thumb for a secure grip and lift cannot be performed efficiently without tactile information. If age-related tactile changes are functionally significant for this task, then without visual information the ’old’ group should show a disproportionate increase in the duration of the grip and lift phase of the task compared to the ’young’ group. Perceptual thresholds for tactile pressure stimuli (Semmes-Weinstein filaments) confirmed well-known age-related changes. Age and vision effects were manifest mainly during the grip-lift phase (time from object contact to lift-off from its support surface), with the expected finding that the ’old’ group required more time than ’young’ group, regardless of visual condition. The main finding was that the ’grip-lift’ duration in the ’no-vision’ condition was about twice the duration observed in the ’vision’ condition for both age groups (ratios of 2.1 and 2.3 for ’young’ and ’old’, respectively). This similar relative slowing for the two groups fails to support the hypothesis that old adults’ ability to grip and lift the object was limited by changes in the availability or use of tactile information. Received: 30 September 1997 / Accepted: 26 January 1998  相似文献   

11.
The dopaminergic neurotransmitter system of the brain is involved in working memory and other cognitive functions. Studies suggest an important role for dopamine synthesis and uptake in modulation of human cognitive processes. We studied the association between polymorphisms in the catechol-o-methyl transferase (COMT) and dopamine receptor D2 (DRD2) genes and general cognitive ability in a secondary analysis of 2091 men and women, aged 55–80 years living in Scotland. General cognitive ability ‘g’ was derived from five cognitive tests of different domains. COMT was not associated with cognitive ability in this population. The DRD2 C:C genotype of rs6277 was associated with decreased general cognitive ability ‘g’ (p = 0.003), and DRD2 rs1800497 heterozygotes had lowest mean general cognitive ability ‘g’ (p = 0.007). There was an indication of a potential interaction between the DRD2 SNPs.  相似文献   

12.
Children with autism spectrum disorder (ASD) routinely undergo genetic testing (GT) to identify the causative genetic etiology of their ASD. As there are questions about the impact of GT beyond clinical diagnosis, we conducted a mixed methods study to assess the perceived benefits of GT by exploring factors that lead parents to pursue these tests and the benefits experienced. Respondents were part of a pretest or posttest group. The pretest group (N = 22) expressed intent to pursue GT and the posttest group (N = 32) had undergone GT and received results at least 3 months prior to completing the survey. Responses were compared between and within groups. Free text responses were coded for themes and selection questions were analyzed using Fisher's exact tests. Our results demonstrate significant differences between the groups with participants in the pretest group more likely to choose “increased access to therapies” (p = 0.026) and “improved healthcare” (p < 0.000) as reasons to pursue testing. Benefits were also significantly different with “improved healthcare” (p = 0.009), “improved access to services” (p = 0.012), and “improved access to therapies” (p = 0.003) more frequently anticipated by the pretest group than reported by the posttest group. A relationship between GT and clinical management changes was reported by 34.4–50.0% of the posttest group. Among that group, genetic result type (positive, negative, or variant of uncertain significance) was associated with differing perceived benefits of testing. Thematic analysis revealed increased knowledge and coping as reported benefits in both groups. Our findings indicate a discrepancy between parental expectations and experiences of GT. Comprehensive pretest and posttest genetic counseling are necessary to improve information retention, address potential outcomes, and set expectations of GT for parents of children with ASD.  相似文献   

13.
This work analyses surfers’ postural control and their use of visual information in static (stable) and dynamic (unstable) postures according to their level of competition. Two groups of healthy surfers were investigated: a group of local level surfers (LOC) (n = 8) and a group of national/international level surfers (NIN) (n = 9). Posture was assessed by measuring the centre of foot pressure with a force platform for 50 s with stable support and for 25 s with unstable support (sagittal or frontal plane). The tests were completed with the eyes open (the subjects looked at a fixed level target at a distance of 2 m) and closed (they kept their gaze in a straight-ahead direction). Results showed that the contribution of vision in postural maintenance, with unstable support was less important in the NIN surfers than in the LOC surfers and that the NIN surfers had better postural control than the LOC surfers. Firstly, the results suggest that expert surfers could shift the sensorimotor dominance from vision to proprioception for postural maintenance. Secondly, there is a relationship between the postural ability and the competition level of surfers. These observations are likely to induce new prospects of training for surfers.  相似文献   

14.
Sputum induction by the inhalation of hypertonic saline may increase the yield of microbiological diagnosis of pulmonary tuberculosis (TB). This is particularly relevant in paucibacillary TB, such as in children or human immunodeficiency virus (HIV)-infected patients. Sputum induction must be shown to be safe and tolerable in community settings where invasive diagnostic methods are unavailable. The objective of this study was to describe the changes in physiological parameters and adverse events occurring during sputum induction in ambulatory adult and adolescent TB suspects recruited in community clinics. Sputum induction was performed in HIV-infected (n = 35) and HIV-uninfected (n = 67) TB suspects (n = 102). Oxygen saturation (%), blood pressure (mm Hg), heart rate (/minute), respiratory rate (/minute), and adverse events were monitored at baseline, continuously during the salbutamol pre-treatment and saline nebulization phases, and for 30 min afterwards. During nebulization, there was a statistically significant increase in oxygen saturation (1%, p < 0.0001), systolic BP (7 mm Hg, p < 0.0001), and diastolic BP (2 mm Hg, p = 0.008). Post-nebulization decrease in the systolic BP occurred (4 mm Hg, p = 0.016). These changes were not considered to be clinically significant. Eight minor, transitory, self-resolving adverse events occurred (labored breathing, n = 2; chest pain, n = 2; paroxysmal coughing, n = 1; elevated heart rate, n = 1; vomiting, n = 1; hypotension, n = 1), leading to procedure termination in four participants. No serious adverse events occurred. Induced sputum is safe, tolerable, and feasible in adult and adolescent TB suspects in a community healthcare setting.  相似文献   

15.
Zebrafish is an emerging model system for cardiac conduction and regeneration. Zebrafish heart regenerates after 20% ventricular resection within 60 days. Whether cardiac conduction phenotype correlated with cardiomyocyte regeneration remained undefined. Longitudinal monitoring of the adult zebrafish heart (n = 12) was performed in terms of atrial contraction (PR intervals), ventricular depolarization (QRS complex) and repolarization (heart rated corrected QTc interval). Baseline electrocardiogram (ECG) signals were recorded one day prior to resection and twice per week over 59 days. Immunostaining for gap junctions with anti-Connexin-43 antibody was compared between the sham (n = 5) and ventricular resection at 60 days post-resection (dpr) (n = 7). Heart rate variability, QTc prolongation and J-point depression developed in the resected group but not in the sham. Despite a trend toward heart rate variability in response to ventricular resection, the differences between the resected and sham fish were, by and large, statistically insignificant. At 10 dpr, J-point depression was statistically significant (sham: −0.179 ± 0.061 mV vs. ventricular resection: −0.353 ± 0.105 mV, p < 0.01, n = 7). At 60 days, histology revealed either cardiomyocyte regeneration (n = 4) or scar tissues (n = 3). J-point depression was no longer statistically significant at 59 dpr (sham: −0.114 ± 0.085 mV; scar tissue: −0.268 ± 0.178 mV, p > 0.05, n = 3; regeneration: −0.209 ± 0.119 mV, p > 0.05, n = 4). Despite positive Connexin-43 staining in the regeneration group, QTc intervals remained prolonged (sham: 325 ± 42 ms, n = 5; scar tissues: 534 ± 51 ms, p < 0.01, n = 3; regeneration: 496 ± 31 ms, p < 0.01, n = 4). Thus, we observed delayed electric repolarization in either the regenerated hearts or scar tissues. Moreover, early regenerated cardiomyocytes lacked the conduction phenotypes of the sham fish.  相似文献   

16.
The impact of resistance training has not been thoroughly examined in overweight older adults undergoing weight loss. Subjects (n = 27) were overweight and obese (BMI 31.7 ± 3.6 kg/m2) older (age 67 ± 4 years) adults and were randomized into either a 10-week Dietary Approaches to Stop Hypertension for weight loss diet (DASH, n = 12) or DASH plus moderate intensity resistance training (DASH-RT, n = 15). Outcomes included weight loss, total body and mid-thigh composition, muscle and physical function. There were no significant weight loss differences between the DASH-RT and DASH groups (−3.6 ± 0.8 vs. −2.0 ± 0.9%, p = 0.137). The DASH-RT group had a greater reduction in body fat than the DASH group (−4.1 ± 0.9 vs. −0.2 ± 1.0 kg, p = 0.005). The DASH-RT group had greater changes in lean mass (+0.8 ± 0.4 vs. −1.4 ± 0.4 kg, p = 0.002) and strength (+60 ± 18 vs. −5 ± 9 N, p = 0.008) than the DASH group. There were favorable changes in mid-thigh composition variables in the DASH-RT group that were different than the lack of changes observed in the DASH group, except for intermuscular adipose tissue. Both groups experienced decreases in 400-m walk times showed (DASH −36 ± 11 s, DASH-RT −40 ± 7 s) with no differences between groups. Moderate intensity resistance training during weight loss appears to improve fat mass and thigh composition, but weight loss only does not. However, global measures of physical functioning may improve with a weight loss-only program.  相似文献   

17.
In Germany, an increase of notified giardiasis was observed between 2002 (n = 3,101) and 2007 (n = 3,651) with 62% of cases acquired in Germany. The highest incidence was reported in 1- to 5-year-olds (2001–2007, 11.5/100,000 on average) and Berlin is one of the most affected states (17.5/100,000). We performed a cross-sectional study in five Berlin kindergartens differing in socioeconomic status and migrant proportion in order to estimate the prevalence and investigate routes of transmission among children under 6 years of age. Stool samples were screened for Giardia lamblia and Cryptosporidium parvum using microscopical and antigen detection. Giardia-positive samples underwent PCR and subtyping. Two hundred two children participated (mean age 3.4 years). We found three girls (1.5%) who tested positive for G. lamblia genotype-A3, all clustering in one kindergarten (prevalence 5.5%). No common source was identified. Two children were symptomatic. Possible dog-to-child transmission was established for one of the symptomatic cases. All contact-tracing results were negative. Other microscopically detected parasites (Blastocystis hominis, Endolimax nana cysts, Entamoeba coli cysts and Iodamoeba bütschlii cysts) were found in 4% of children. In summary, a substantial level of Giardiasis may be prevalent in some of Berlin’s kindergartens, despite standard hygienic measures being followed. The relatively high prevalence in one kindergarten indicates the need for further studies to identify risk factors for children, which may help to guide possible interventions and strategies. Giardiasis should be considered as a differential diagnosis in children with unclear gastrointestinal symptoms. Additional education and training on proper toilet and food hygiene may further reduce the possibility of child-to-child transmission.  相似文献   

18.
It is a common practice in Northern countries that children aged about 2 weeks to 2 years take their daytime sleep outdoors in prams in winter. The aim was to evaluate the thermal insulation of clothing of infants sleeping outdoors in winter. Clothing data of infants aged 3.5 months was collected, and sleep duration, skin and microclimate temperatures, humidity inside middle wear, air temperature and velocity of the outdoor environment were recorded during sleep taken outdoors (n = 34) and indoors (n = 33) in families’ homes. The insulation of clothing ensembles was measured by using a baby-size thermal manikin, and the values were used for defining clothing insulation of the observed infants. Required clothing insulation for each condition was estimated according to ISO 11079. Clothing insulation did not correlate with ambient air temperature. The observed and required insulation of the study group was equal at about −5°C, but overdressing existed in warmer and deficiency in thermal insulation in colder temperatures (r s 0.739, p < 0.001). However, even at −5°C a slow cooling (ca. 0.012°C/min) of mean skin temperature (T sk) was observed. When the difference between observed and required insulation increased, the cooling rate of T sk increased linearly (r s 0.605, p < 0.001) and the infants slept for a shorter period (r s 0.524, p = 0.001). The results of this study show the difficulty of adjusting systematically the optimal thermal insulation for outdoor sleeping infants during northern winter. Therefore, the necessity for guidelines is obvious. The study provides information for adequate cold protection of infants sleeping in cold conditions.  相似文献   

19.
Transcranial direct current stimulation (tDCS) induces cortical excitability changes in animals and humans that can last beyond the duration of stimulation. Preliminary evidence suggests that tDCS may have an analgesic effect; however, the timing of these effects, especially when associated with consecutive sessions of stimulation in a controlled animal experiment setting, has yet to be fully explored. To evaluate the effects of tDCS in inflammatory chronic pain origin immediately and 24 h after the last treatment session, complete Freund’s adjuvant (CFA) was injected (100 μl) in the right footpad to induce inflammation. On the 15th day after CFA injection, rats were divided into two groups: tDCS (n = 9) and sham (n = 9). The tDCS was applied for 8 days. The hot plate and Von Frey tests were applied immediately and 24 h after the last tDCS session. Eight 20-min sessions of 500 μA anodal tDCS resulted in antinociceptive effects as assessed by the hot plate test immediately (P = 0.04) and 24 h after the last tDCS session (P = 0.006), for the active tDCS group only. There was increased withdrawal latency in the Von Frey test at 24 h after the last session (P = 0.01). Our findings confirm the hypothesis that tDCS induces significant, long-lasting, neuroplastic effects and expands these findings to a chronic pain model of peripheral inflammation, thus supporting the exploration of this technique in conditions associated with chronic pain and peripheral inflammation, such as osteoarthritis.  相似文献   

20.
Background  WiskottAldrich syndrome (WAS) is a rare primary immunodeficiency disease, with an incidence of 4/1,000,000 live male births. In China, an estimated number of 35 babies with WAS are born each year, but likely many remain undiagnosed. Objectives  The objectives of study were to review the clinical and molecular characteristics of a cohort of Chinese children with WAS and to describe the long-term outcome of those who underwent hematopoietic stem cell transplant (HSCT). Materials and Method  Records of 35 patients diagnosed with WAS during 1991–2008 were reviewed. Genetic diagnosis was established by direct gene sequencing. Results  All patients had classical WAS phenotype. WASP mutations were identified in 33 patients from 29 families. Nine patients underwent HSCT at a mean age of 22.1 months (match-unrelated donor, n = 5; mismatched related donor, n = 2; matched-sibling donor, n = 2). Post-transplant immune hemolytic anemia and thrombocytopenia occurred in three patients with complete resolution. All patients survived without significant long-term complications and had full platelet, T and B lymphocyte recovery within 2 years post-transplant. Conclusion  In the past decade, there has been significant improvement in clinical and genetic diagnosis of WAS in Chinese. We demonstrated excellent long-term survival in patients who underwent HSCT. Early workup for transplant should be advocated for children with classical WAS before they suffer from major disease complications and morbidities. PPW Lee and TX Chen were co-first authors and had equal contributions to the study.  相似文献   

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