This study describes a new molecular condition in the alpha(2)-globin gene (HBA2) found in six unrelated families from Southern Italy (Campania and Sicily). This new double mutant form of haemoglobin is called Hb Southern Italy and originated from the coexistence of two known mutations occurring in the same globin gene, HBA2 26 G-->A (Hb Caserta) and HBA2 130 G-->C (Hb Sun Prairie). Hb Sun Prairie was originally observed in Indian patients in either the homozygous state, with severe hemolytic anemia, and in the heterozygous state with microcytosis, or in asymptomatic cases as an alpha-thalassemia carrier phenotype. Hb Caserta was observed for the first time in a Casertian family (South Italy) that displayed a slowmigrating haemoglobin upon investigation. We report the clinical phenotype and molecular study of this new double mutant form of haemoglobin in heterozygous and homozygous subjects, as well as in association with alpha degrees delectional thalassemia. 相似文献
Purpose: The purpose of this study is to evaluate the influence of the crutch setup on standing, in post total hip replacement (THR) surgery patients.Materials and methods: Thirty patients after THR were randomly assigned to walking with the elbow flexed (EF) or elbow straight (ES) crutch setup. Subjects were asked to stand on a force platform in a comfortable position with the crutch positioned on the unaffected side, facing forward for 10?seconds. Centre of pressure total path and maximal excursion were evaluated in both medio-lateral and anterior–posterior planes. Difference in the asymmetry of left/right acromial height, measured with and without the crutch, was calculated (ACdiff). Percentage of body weight borne by the crutch (Fcr), symmetry (SIload) between operated and healthy limbs loading during the trial, together with shoulder forces and moments were measured.Results: No significant differences between the two groups (p?>?.05) were found for stability parameters. ACdiff, Fcr and shoulder load increased significantly (p?.05) in EF group compared to ES group. In addition leg loading symmetry was significantly reduced in the EF group.Conclusions: The present study showed that the ES setup reduced the force borne by the crutch, the load on the shoulder joint and it minimized postural and loading asymmetries when compared to EF setup. Conversely, postural stability was not influenced by the crutch setup.
Implications for Rehabilitation
Static posture and weight-bearing parameters are influenced by crutch setup during quiet standing.
Crutch setup does not influence postural stability.
Adjusting the crutch according to the elbow straight setup reduces the force borne by the crutch and the asymmetry in lower limbs loading.
Forces and moments at the shoulder joint were reduced for the elbow straight setup group.
Nonunion treatment has a high rate of success, although recalcitrant nonunion may determine the need for amputation. Therefore, new treatment options are continuously investigated in order to further reduce the risk of nonunion recurrence. This study aimed to (a) develop a new large animal model for bone atrophic nonunion and (b) compare the efficacy of demineralized bone matrix (DBM) and DBM in combination with mesenchymal stem cells (MSC) in the new nonunion model. The new model consists of a noncritical, full‐thickness segmental defect created in the sheep tibia, stabilized by an intramedullary nail, and involves the creation of a locally impaired blood supply achieved through periosteum excision and electrocauterization of the stump ends. Six weeks after defect creation, lack of hard tissue callus and established nonunion was observed in all operated tibiae both by radiographic and clinical evaluation. Nonunion was treated with allogeneic DBM or autologous MSC cultivated on DBM particles (DBM + MSC) for 1 day before implantation. Twelve weeks after treatment, radiographic, microtomographic, histologic, and histomorphometric analysis showed the formation of bone callus in DBM group, whereas the fracture healing appeared at an early stage in DBM + MSC group. Torsional strength and stiffness of the DBM group appeared higher than those of DBM + MSC group, although the differences were not statistically significant. In conclusion, a new sheep bone nonunion model resembling the complexity of the clinical condition was developed. DBM is an effective option for nonunion treatment, whereas MSC do not improve the healing process when cultivated on DBM particles before implantation. 相似文献
The objective of our study was to systematically review the evidence about synchronous colorectal cancer diagnosed with or without computed tomography colonography (CTC).
Materials and methods
Two systematic searches were performed (PubMed and EMBASE) for studies reporting the prevalence of synchronous colorectal cancer (CRC): one considering patients who underwent CTC and the another one considering patients who did not undergo CTC. A three-level analysis was performed to determine the prevalence of patients with synchronous CRC in both groups of studies. Heterogeneity was explored for multiple variables. Pooled prevalence and 95% confidence interval (CI) were calculated. A quality assessment (STROBE) was done for the studies.
Results
For CTC studies, among 2645 articles initially found, 21 including 1673 patients, published from 1997 to 2018, met the inclusion criteria. For non-CTC studies, among 6192 articles initially found, 27 including 111,873 patients published from 1974 to 2015 met the inclusion criteria. The pooled synchronous CRC prevalence was 5.7% (95% CI 4.7%–7.1%) for CTC studies, and 3.9% (95% CI 3.3%–4.4%) for non-CTC studies, with a significant difference (p = 0.004). A low heterogeneity was found for the CTC group (I2 = 10.3%), whereas a high heterogeneity was found in the non-CTC group of studies (I2 = 93.5%), and no significant explanatory variables were found. Of the 22 STROBE items, a mean of 18 (82%) was fulfilled by CTC studies, and a mean of 16 (73%) by non-CTC studies.
Conclusions
The prevalence of synchronous CRC was about 4–6%. The introduction of CTC is associated with a significant increase of the prevalence of synchronous CRCs.
Purpose: The purpose of this study is to quantitatively assess the effect of 6 months of supervised adapted physical activity (APA i.e. physical activity designed for people with special needs) on spatio-temporal and kinematic parameters of gait in persons with Multiple Sclerosis (pwMS).Methods: Twenty-two pwMS with Expanded Disability Status Scale scores ranging from 1.5 to 5.5 were randomly assigned either to the intervention group (APA, n?=?11) or the control group (CG, n?=?11). The former underwent 6 months of APA consisting of 3 weekly 60-min sessions of aerobic and strength training, while CG participants were engaged in no structured PA program. Gait patterns were analyzed before and after the training using three-dimensional gait analysis by calculating spatio-temporal parameters and concise indexes of gait kinematics (Gait Profile Score – GPS and Gait Variable Score – GVS) as well as dynamic Range of Motion (ROM) of hip, knee, and ankle joints.Results: The training originated significant improvements in stride length, gait speed and cadence in the APA group, while GPS and GVS scores remained practically unchanged. A trend of improvement was also observed as regard the dynamic ROM of hip, knee, and ankle joints. No significant changes were observed in the CG for any of the parameters considered.Conclusions: The quantitative analysis of gait supplied mixed evidence about the actual impact of 6 months of APA on pwMS. Although some improvements have been observed, the substantial constancy of kinematic patterns of gait suggests that the full transferability of the administered training on the ambulation function may require more specific exercises.
Implications for rehabilitation
Adapted Physical Activity (APA) is effective in improving spatio-temporal parameters of gait, but not kinematics, in people with multiple sclerosis.
Dynamic range of motion during gait is increased after APA.
The full transferability of APA on the ambulation function may require specific exercises rather than generic lower limbs strength/flexibility training.