Linkage disequilibrium mapping of the Nova Scotia variant of Niemann–Pick disease

Niemann-Pick type D (NPD) disease is a severe degenerative disorder of the nervous system characterized by the accumulation of tissue cholesterol and sphingomyelin. Because of a founder effect, it is unusually common in southwestern Nova Scotia, Canada. We have confirmed that almost all patients from 20 affected sibships descended on both sides from a small group of Acadians who settled in this region in about the year 1767. Previously using classic linkage analysis of this large kindred, we defined the critical gene region to a 13-cM chromosome segment between D18S869 and D18S66. Seven ESTs have been positioned within this interval. Carstea et al. (Niemann Pick C disease gene: homology to mediators of cholesterol homeostasis. Science 1997: 277: 232-235) recently demonstrated that one of these ESTs is the Niemann-Pick type C (NPCI) gene, the gene disrupted in most patients with NPC disease, and we have shown that a G3097-->T mutation in the NPC1 gene is also responsible for NPD. Here we report the development of five new polymorphic microsatellite markers and the testing for complete linkage disequilibrium in our single large NPD kindred that allowed us to reduce the NPD critical region to a 1-cM (1.3-1.6 Mb) interval between D18S1398 and D18S1108. In contrast, Carstea et al., using classic linkage analysis, required more than 18 unrelated NPC families to reduce the NPC1 critical region to a 5-cM interval. Our work supports the finding that NPD is an allelic variant of NPC1, and illustrates the power of large kindreds, which are common in Atlantic Canada and other relatively isolated areas, for gene mapping and identification.     

Acoustic neuromas: Gd-DTPA enhancement in MR imaging

Magnetic resonance (MR) imaging examinations were performed in ten patients with 12 acoustic neuromas before and after intravenous administration of 0.1 mmol/kg body weight gadolinium-diethylenetriamine pentaacetic acid (Gd-DTPA). The degree of enhancement was greatest with the inversion recovery sequence 1,500/500/44 (repetition time [TR]/inversion time/echo delay time [TE]), followed by spin-echo (SE) 544/44 (TR/TE) sequences, then by SE 1,500/44 and SE 1,500/80 sequences. After enhancement there was a 50% reduction for measured T1 values, 33% for T2, and no significant change for proton density. There were no toxic effects on patients. Enhanced CT scans failed to demonstrate lesions in six of 12 cases. Air-CT technique improved sensitivity in four of five cases. Enhanced MR imaging added significant clinical information in two small intracanalicular tumors and in one recurrent tumor.     

Gold-195m first-pass radionuclide ventriculography, thallium-201 single- photon emission CT, and 12-lead ECG stress testing as a combined procedure

Graded, sequential, rest/exercise, gold-195m (Au-195m) (T1/2 = 30 seconds), first-pass ventriculography and thallium-201 (T1-201) single-photon emission computed tomography (SPECT) were performed simultaneously during a single, electrocardiograph-monitored, bicycle stress test in 24 individuals. The technical aspects and logistics involved in performing this combined radionuclide study are stressed in this preliminary report. Fourteen healthy volunteers each had a normal left ventricular ejection fraction and wall-motion response, along with normal Tl-201 perfusion and washout, as determined by both visual and quantitative analysis of the tomographic sections. Each of ten patients with coronary artery disease had at least one abnormality of these parameters. We suggest that it is technically feasible to evaluate both cardiac function and myocardial perfusion simultaneously by combining Au-195m ventriculography and T1-201 SPECT imaging into a single, noninvasive, diagnostic package.     

萘甲异喹的降压作用

五十年代后期就有粉防己碱(Tet)降压作用的报道,近年研究表明它有钙拮抗作用。但由于其来源困难,又难以合成,临床应用受到限制。萘甲异喹(naphthylmethyl isoquinoline NI)系Tet改构后的化合物,本文研究了NI对正常和高血压动物的降压作用并对其降压机理作了初步探讨。     

PBP profiles of Haemophilus influenzae, H. aegyptius, and the H. influenzae biogroup aegyptius associated with Brazilian Purpuric Fever

We questioned if PBP analysis could differentiate strains of Haemophilus influenzae, H. aegyptius, and H. influenzae biogroup aegyptius associated with Brazilian Purpuric Fever. A relatively homogeneous PBP pattern was observed for all strains. The amount of penicillin bound to PBP 5 appeared to separate H. influenzae and H. aegyptius isolates, whereas PBP 5 of those strains associated with Brazilian Purpuric Fever bound an intermediate amount. We conclude that based on PBP profiles, the strains tested appear to be difficult to separate taxonomically and may represent a common species.     

Portal circulation aneurysms: Two case reviews

Venous aneurysms of the superior mesenteric vein and portal vein are an uncommon occurrence and often an incidental finding. They can also be associated with hepatocellular disease and portal hypertension. We present CT and ultrasound findings of these entities. The management of venous aneurysms is generally conservative with serial imaging.     

Imaging of painful solitary lesions of the sacrum

In patients with sacral pain, the painful symptoms may be caused by a variety of bony and soft tissue lesions. Benign lesions include giant cell tumour, neurogenic tumour, insufficiency fracture, infection and giant bone island. Malignant lesions include primary bone tumours, Ewing sarcoma, plasmacytoma, lymphoma and chordoma. Soft tissue tumours adjacent to or involving the sacrum may cause painful symptoms. A multimodality approach to imaging is required for full assessment of these lesions. This pictorial essay describes a range of common solitary sacral lesions that may cause pain, with emphasis on imaging features.