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Diagnosis of Rett syndrome: can a radiograph help? 总被引:1,自引:0,他引:1
E J. Glasson BPsych BSc C. Bower MB BS MSc PhD FAFPHM M K. Thomson MB BS FRCR DMKD S. Fyfe BSc BF.d BAppSc S. Leonard BSc Honours student J. Christodoulou MB BS PhD FRACP CGHGSA C. Fllaway MB BS H. Leonard MB ChB MPH E. Rousham BA PhD Lecturer 《Developmental medicine and child neurology》1998,40(11):737-742
Rett syndrome (RS), a neurodevelopmental disorder almost exclusively affecting girls, is associated with severe intellectual and motor disability. In the absence of biological markers, diagnosis is determined by a set of clinical criteria. In a previous study in Scotland, shortening of the fourth metatarsal was reported clinically in 20% of classical RS cases aged 5 years or older. The Australian Rett Syndrome Study database has facilitated a population-based radiological study of the hands and feet of girls with RS. Straight radiographs of hands and feet were available from 94 cases, representing 70.1% of the known RS population in Australia. Control radiographs were matched for age, sex, and laterality. Relative shortening of the fourth metacarpal/metatarsal was assessed using the sign method. A short ulna (negative ulna variance) was defined as the distal articular surface of the ulna being at least 5mm proximal to the distal articular surface of the radius. A positive metacarpal sign was twice as common in verified cases of RS than in controls in the right but not the left hand. A short ulna was more common in subjects with RS than in controls. A short fourth metatarsal was also more common among subjects with RS. More than half (56.6%) the girls with RS over the age of 4 years had a negative ulnar variance in either wrist or a metatarsal sign in either foot. These findings will assist with the diagnosis of RS and may help direct research towards the location of the molecular defect. 相似文献
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BACKGROUND AND PURPOSE:Arrested sphenoid pneumatization is an incidental radiologic finding on CT and MR imaging that may be confused with more aggressive pathologic conditions. No definite etiology for arrested sphenoid pneumatization has been established, though changes in regional blood flow during childhood, as is seen with sickle cell disease, have been proposed. The purpose of our study was to compare the prevalence of arrested pneumatization of the sphenoid sinus in patients with and without sickle cell disease.MATERIALS AND METHODS:We retrospectively identified 146 patients with sickle cell disease who had undergone CT scans of the skull base between January 1990 and May 2015. We identified 292 control patients without sickle cell disease matched for age and sex in a 1:2 ratio. We tabulated the prevalence of arrested pneumatization as well as the location and size of the lesions. We used the Fisher exact test to correlate sickle cell disease with arrested pneumatization of the sphenoid sinus and the t test to correlate sickle cell disease with lesion size.RESULTS:Of the 146 patients with sickle cell disease, 14 (9.6%) had arrested pneumatization of the sphenoid sinus. In the 292 control patients, 6 (2.1%) had arrested pneumatization. Patients with sickle cell disease had a statistically significant higher rate of arrested pneumatization compared with patients without sickle cell disease (P < .001). There was no statistically significant correlation between lesion size and diagnosis of sickle cell disease.CONCLUSIONS:Patients with sickle cell disease have a greater prevalence of arrested pneumatization of the sphenoid sinus than patients without sickle cell disease. This supports the theory that either regional blood flow anomalies or increased serum erythropoietin causes arrested sinus pneumatization.The normal development of the sphenoid sinus is preceded by a phase of fatty transformation and fat involution in the bone marrow, followed by aeration of the marrow that then results in full pneumatization.1,2 This process begins at 4 months of age and usually ends at 10–14 years of age.3,4 This process may be interrupted, leaving atypical fatty marrow that persists into adulthood.Change in regional blood flow has been suggested as a potential stimulus for fatty marrow conversion.5 If this theory is correct, then diseases that produce aberrant regional blood flow might predispose a person to arrested sinus pneumatization. Sickle cell disease (SCD) is an example of a disorder that produces regional blood flow changes in childhood, but no study has investigated the correlation between arrested sphenoid pneumatization and SCD.We hypothesized that there is an increased prevalence of arrested pneumatization of the sphenoid sinus in patients with SCD compared with those without SCD. 相似文献
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Chronic mercury exposure at different concentrations produces opposed vascular responses in rat aorta
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BF Azevedo MR Simões J Fiorim T Botelho JK Angeli JVA Vieira MJ Alonso M Salaices L dos Santos DV Vassallo 《Clinical and experimental pharmacology & physiology》2016,43(7):712-719
Mercury chloride exposure for 30 days decreases NO bioavailability and increases oxidative stress. However, the mechanisms underlying the effects of mercury on the cardiovascular system are not completely understood, and it is not known if they are dose‐dependent or if some concentrations have no harmful effects. Thus, we investigated the effects of chronic exposure to doses low (half) and high (2.5‐fold higher) than that needed to obtain 29 nmol/L of HgCl2 on the vascular function. Three‐month‐old male Wistar rats received intramuscular (i.m.) HgCl2 for 30 days and were divided in three groups: lower (Low Hg); higher (High Hg); and saline was used as the control. High Hg exposure increased the contractile response to phenylephrine (PHE) in aortic rings, but Low Hg reduced it. The hyporesponsiveness in the Low Hg rats was blunted by endothelial denudation and NOS inhibition with l ‐NAME (100 μmol/L). The phosphorylated‐eNOS/eNOS protein ratio increased in the aortas of Low Hg rats. In the High Hg group, endothelial denudation increased the PHE‐induced contractions, while l ‐NAME had no effects and indomethacin (10 μmol/L), losartan (10 μmol/L) and apocynin (30 μmol/L) reduced this response. In the High Hg group, protein levels of the NADPH oxidase subunit gp91phox and cyclooxygenase‐2 increased. Our results support previous suggestions that High Hg increases oxidative stress that might activate an inflammatory cascade and the renin‐angiotensin system. However, very low Hg concentrations below the level considered safe still reduced vascular reactivity, suggesting the need for special attention to continuous exposure as a putative cause of increased cardiovascular risk. 相似文献
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Effect of stretch on passive transport in toad urinary bladder 总被引:1,自引:0,他引:1