Vesico-ureteric reflux: using mouse models to understand a common congenital urinary tract defect

Vesico-ureteric reflux (VUR) is a common congenital urinary tract defect in which urine flows retrogradely from the bladder to the kidneys because of an abnormally formed uretero-vesical junction. It is associated with recurrent urinary tract infections, renal hypo/dysplasia, reflux nephropathy, hypertension, and end-stage renal disease. In humans, VUR is genetically and phenotypically heterogeneous, encompassing diverse renal and urinary tract phenotypes. To understand the significance of these phenotypes, we and others have used the mouse as a model organism and this has led to the identification of new candidate genes. Through careful phenotypic analysis of these models, a new understanding of the genetics and biology of VUR is now underway.     

组成型αB晶体蛋白在热休克蛋白核转录因子1敲除小鼠心肌中的表达

目的:了解热休克蛋白核转录因子1(HSF1)对小鼠心肌组成型αB晶体蛋白(αB-Crystallin,αBC)表达的影响.方法:用western blot和免疫组织化学的方法,测定组成型αBC在HSF1基因野生型(hsf1+/+)和HSF1基因敲除型(hsf1-/-)小鼠心肌中的表达.结果:αBC在hsf1-/-和hsf1+/+小鼠心肌表达量分别为68.42±4.16和100.00±7.58(心肌可溶性组分,P＜0.05),20.35±1.01和37.55±1.91(心肌不可溶性组分,P＜0.05);免疫组化显示αBC在hsf1-/-心肌细胞内的表达信号较hsf1+/+明显减弱.结论:HSF1基因是介导组成型αBC基因表达重要的、但不是惟一的因子.     

I-123 iofetamine SPECT scan in systemic lupus erythematosus patients with cognitive and other minor neuropsychiatric symptoms: a pilot study.

Accurate diagnosis of central nervous system (CNS) lupus remains difficult, especially when the manifestations are of subtle cognitive and affective changes. This pilot study reports on the use of I-123 iofetamine single photon emission computerized tomography (SPECT) scans in 18 such patients with documented systemic lupus erythematosus. Eight of the 18 scans were abnormal (44%), four in a diffuse bi-temporo-parietal pattern previously noted only in Alzheimer's disease, and four with large focal deficits. Neither the existence of the abnormal scan nor the particular pattern of abnormality correlated with the results of other diagnostic tests. These preliminary results raise the possibility that SPECT scans may offer an additional valuable diagnostic instrument in CNS lupus, although further studies are necessary to delineate their precise role.     

Reliability of the Otago photoscreener A study of a thousand cases

The Otago photoscreener is a 35 mm single lens reflex camera in which the flash light comes from a narrow ring around the outer margin of its lens. The margin is also the limiting aperture of the optic system and in the centre of the lens is a flickering fixation light. In a colour photograph taken at a distance of 66 cm from the face of the subject who is accurately focusing on and fixing the camera fixation light with both eyes, the fundus reflex in each pupil is very dark red and the corneal light reflexes are symmetrical. If either or both eyes are not appropriately focused or fixing, the fundus reflex is brighter and yellow or white. This article describes a prospective trial of the performance of the Otago photoscreener in a series of 1000 infants with actual or suspected amblyopia, refractive error or strabismus. In this study photoscreening showed a sensitivity of 94% and a specificity of 79%. Photoscreening also identified some cases of esotropia and of refractive error which were missed on clinical examination. In this series photoscreening passed as normal three children with mild to moderately severe amblyopia. This represents les than 1 % of the clinically abnormal children.     

Complex I deficiency is associated with 3243G:C mitochondrial DNA in osteosarcoma cell cybrids

143B.206 rho degrees cells were repopulated with mitochondria from a MELAS patient harbouring a mixture of 3243G:C and 3243A:T mitochondrial DNA. A number of biochemical assays were performed on selected cybrids with various proportions of the two types of mitochondrial DNA. These assays revealed a marked decrease in oxygen consumption with pyruvate, a complex I substrate, in cybrids containing 60% to 90% 3243G:C mitochondrial DNA. Moreover, these cybrids showed decreased synthesis of a number of polypeptides in a mitochondrial in vitro translation assay. A cybrid line with a very high level of 3243G:C mitochondrial DNA (95%) had additional deficiencies in complexes III and IV and there was a marked generalised decrease in mitochondrial translation in this cybrid. The observation of complex I deficiency is consistent with previously reported enzymatic measurements of muscle homogenates from MELAS patients with the 3243G:C mutation.      

Spontaneous intramural haematoma of the oesophagus: Radiologic recognition

Spontaneous intramural haematoma of the oesophagus (SIHO) is an uncommon disorder. It presents usually with acute chest pain followed by dysphagia. This condition may mimic spontaneous rupture of the oesophagus (Boerhaave Syndrome), dissection of the thoracic aorta or acute myocardial infarction. Hence early accurate confirmation of the diagnosis by radiology is vital for the appropriate acute management. The condition is frequently mistaken for acute myocardial infarction which may prompt inappropriate thrombolytic therapy. The appearances on contrast studies of oesophagus and on CT scanning are characteristic. Despite this, the diagnosis may easily be missed, if appropriate careful radiological technique is not used. This paper reports three consecutive cases of SIHO managed in one institution. These cases illustrate that early gastrografin contrast radiology followed by barium contrast radiology and if necessary by thoracic CT is diagnostic in all cases of this condition.     

'Juvenile' myasthenia gravis in early infancy

A previously well infant developed severe muscle weakness and hypotonia at 6 months of age. This was reversed by anticholinesterase medication. However, she had subsequent further weakness and died at 10 months after an acute respiratory arrest. The clinical pattern was that of the 'juvenile' form of myasthenia gravis rather than the 'congenital' forms which have previously been described in early infancy.