Objective: Rett syndrome is a rare neurodevelopmental disorder that is usually associated with a mutation on the X-linked MECP2 gene. Hand function is particularly affected and we discuss theoretical and practical perspectives for optimising hand function in Rett syndrome.
Methods: We reviewed the literature pertaining to hand function and stereotypies in Rett syndrome and developed a toolkit for their assessment and treatment.
Results: There is little published information on management of hand function in Rett syndrome. We suggest assessment and treatment strategies based on available literature, clinical experience and grounded in theories of motor control and motor learning.
Conclusion: Additional studies are needed to determine the best treatments for hand function in Rett syndrome. Meanwhile, clinical needs can be addressed by supplementing the evidence base with an understanding of the complexities of Rett syndrome, clinical experience, environmental enrichment animal studies and theories of motor control and motor learning. 相似文献
Previous studies on the association of ankylosing spondylitis and
abnormalities of the lung parenchyma have been based largely on plain
radiography and pulmonary function testing. This study, although
uncontrolled, is the first to use high-resolution computed tomography to
examine the entire lung parenchyma in ankylosing spondylitis patients, and
to correlate the findings with clinical assessment, plain radiography and
pulmonary function testing. The study population comprised 26 patients
meeting the New York criteria for idiopathic ankylosing spondylitis who
attended the out-patient department at our institution. High-resolution
computed tomography examination revealed abnormalities in 19 patients
(70%): these included interstitial lung disease (n = 4), bronchiectasis (n
= 6), emphysema (n = 4), apical fibrosis (n = 2), mycetoma (n = 1) and
non-specific interstitial lung disease (n = 12). Plain radiography was
abnormal in only four patients and failed to identify any patient with
interstitial lung disease. All patients with interstitial lung disease on
high-resolution computed tomography had respiratory symptoms and three of
the four had evidence of a restrictive process on pulmonary function
testing. This study raises, for the first time, the possible association
between interstitial lung disease and ankylosing spondylitis, and
highlights the use of high-resolution computed tomography in detecting such
disease in ankylosing spondylitis patients.
相似文献
BACKGROUND: Cellular blood components are irradiated to prevent graft- versus-host disease in transfusion recipients at risk for this syndrome. Because gamma radiation can result in the production of reactive oxygen species, the role of reactive oxygen species was investigated in radiation-induced red cell damage. STUDY DESIGN AND METHODS: Whole blood from normal donors was exposed to various doses of t-butyl hydroperoxide (0-1 mM) and/or to gamma-radiation (0-50 Gy). Oxidative damage was assessed by the extent of lipid peroxidation (measured by thiobarbituric acid-reactive substances [TBARS]) and hemoglobin oxidation. Fresh blood was divided into three parts-one initially irradiated and stored, another stored with portions irradiated weekly, and a third stored without irradiation. TBARS and hemoglobin oxidation were measured weekly. RESULTS: As expected, t- butyl hydroperoxide induced TBARS formation and hemoglobin oxidation in a dose-dependent fashion. The gamma-radiation not only increased hemoglobin oxidation and TBARS formation, but also enhanced the t-butyl hydroperoxide effect on red cells. Red cell storage increased TBARS generation and hemoglobin oxidation in a time-dependent fashion. When radiation was administered either initially or after weekly storage, TBARS production and hemoglobin oxidation were increased over that measured in unirradiated paired controls. CONCLUSION: Gamma radiation at clinically used doses increases lipid peroxidation and hemoglobin oxidation in human red cells. The effect of gamma-radiation is accentuated by blood storage and induces damage independent of time of storage. 相似文献
A group of unique Epstein-Barr virus-containing cell lines was derived from the bone marrow of three patients with X-linked agammaglobulinemia. Efforts to obtain cell lines from the peripheral blood of these patients were uniformly unsuccessful. Immunofluorescence analyses as well as biosynthetic studies with [(35)S]methionine indicated unusual patterns of Ig synthesis in many of these bone marrow derived lines. Seven of the lines were of particular interest in that two produced no Ig of any type; two others showed no Ig by fluorescence but small amounts by [(35)S]methionine labeling; one expressed only cytoplasmic μ chains without any evidence of light chain synthesis, and two produced primarily μ chains with only slight amounts of light chains. One of the lines without membrane or cytoplasmic Ig studied in detail grew like a typical lymphoid line and was carried in intermittent culture over a period of 2 yr without Ig expression. One line grew quite differently and resembled the round cell type described previously, which has been obtained from a variety of sources. The cell line with cytoplasmic μ chains and no light-chain expression had the characteristic properties of pre-B cells. Three normal type Ig-producing cell lines also were obtained from the patients. The accumulated evidence obtained in the present study indicates that these unusual cell lines represent normal precursor cells of the B-cell lineage; these grew out in these cases because of the virtual absence of mature B cells that ordinarily overgrow the culture system. However, the possibility that in certain instances they reflect abnormal Ig synthesis characteristic of the disease has not been ruled out. 相似文献
The management of patients with in‐stent restenosis (ISR) is still a major clinical challenge even in the era of drug‐eluting stents (DES). Recent studies have demonstrated acceptable clinical outcomes for the everolimus‐eluting bioresorbable vascular scaffold (BVS) ABSORB? in patients with stable coronary artery disease but data are scarce on its use in patients with ISR. We report the long‐term results of our preliminary experience with this novel approach at our institution.
Methods and Results
We investigated the safety and efficacy of BVS implantation to treat ISR. 34 consecutive patients (37 lesions) underwent PCI for ISR with BVS implantation between May 2013 and June 2015 at our institution and were included in the current analysis. Follow‐up was available in 91.9% of the patients. Mean follow‐up period was 801.9 ± 179 days. One patient had definite scaffold thrombosis (ScT) 2 months after stent implantation which was treated with DES. Five patients (six lesions) experienced target lesion revascularization (TLR). The composite endpoint rate of TLR, ScT, myocardial infarction, and death occured in 6/37 lesions at follow‐up (16.2%).
Conclusions
These real‐world data using BVS in patients with ISR demonstrates that ISR treatment with ABSORB? BVS is feasible but could have slightly higher target lesion failure rates as compared to DES. This proof of concept could be hypothesis‐generating for larger randomized controlled studies. 相似文献
Despite extensive research, the five-year survival rate of oral squamous cell carcinoma (OSCC) patients has not improved.
Effective treatment of OSCC requires the identification of molecular targets and signaling pathways to design appropriate
therapeutic strategies. Several genes from the mTOR signaling pathway are known to be dysregulated in a wide spectrum of cancers.
However, not much is known about the involvement of this pathway in tumorigenesis of OSCC. We therefore investigated the role
of the tumor suppressor genes, TSC1 and TSC2, and other members of this pathway in tumorigenesis of OSCC. 相似文献