Survival of low birthweight infants in central Queensland

The survival of low birthweight infants £2000g born in the central Queensland area during the years 1979 to 1991 was examined. Five hundred and sixty such infants were either delivered at one of the two Rockhampton obstetric units (Rockhampton Base Hospital and the Mater Misericordiae Hospital) or retrieved from outlying central Queensland areas. Both hospitals had intensive care nurseries capable of ventilation and infants were transferred to tertiary centres only for cardiac or surgical treatment. The study involved all liveborn infants', including those with lethal malformations and all deaths up to the time of discharge. Survival rates were as follows: £500 g 0%, 501 £750 g 30%, 751 £1000 g 51%, 1001 ± 1500 g 79%, 1501 £2000g 93%. The survival of Aboriginal infants and outborn infants were found to be essentially the same as the overall group.     

Gene conversion is a likely cause of mutation in PKD1

Approximately 70% of the gene responsible for the most common form of autosomal dominant polycystic kidney disease ( PKD1 ) is replicated in several highly homologous copies located more proximally on chromosome 16. We recently have described a novel technique for mutation detection in the duplicated region of PKD1 that circumvents the difficulties posed by these homologs. We have used this method to identify two patients with a nearly identical cluster of base pair substitutions in exon 23. Since pseudogenes are known to be reservoirs for mutation via gene conversion events for a number of other diseases, we decided to test whether these sequence differences in PKD1 could have arisen as a result of this mechanism. Using changes in restriction digest patterns, we were able to show that these sequence substitutions are also present in N23HA, a rodent-human somatic cell hybrid that contains only the PKD1 homologs. Moreover, these changes were also detected in total DNA from several affected and unaffected individuals that did not harbor this mutation in their PKD1 gene copy. This is the first example of gene conversion in PKD1 , and our findings highlight the importance of using gene-specific reagents in defining PKD1 mutations.      

Dynamic and static phantoms for evaluation of digital subtraction angiographic systems

Two types of phantoms were developed with which to evaluate the overall performance of digital subtraction angiography (DSA) systems. A dynamic phantom, called a "fish bone" phantom, consists of polyethylene tubes that simulate blood vessels with various lesions, such as stenoses, ulcers, and aneurysms. With this phantom, washout curves were obtained representing the relationship between iodine content and time. It will be useful for qualitative assessment of DSA images, evaluation of different image-processing schemes, and studies of blood flow analysis. A static phantom, called a "C-D" phantom, can be used for measurement of quantitative contrast-detail (C-D) diagrams and for daily monitoring of DSA systems. This was constructed of tubes of seven different diameters (2.15-0.28 mm) and 14 different concentrations of contrast medium (100%-1.1% Renografin-76 [meglumine and sodium diatrizoate]). The C-D diagrams were determined from an observer performance study using C-D phantom images obtained at four different DSA settings.     

INTRA-ARTICULAR INCLUSIONS OF ThE CERVICAL SYNOVIAL JOINTS

Two hundred and ten cervical synovial joints from 15 adult vertebralcolumns were studied by dissection to determine the form, dispositionsand prevalence of intra-articular inclusions. Three types ofinclusions were found. Fat pads occurred regularly in the atlanto-occipitaljoints but rarely in the zygapophysial joints. Capsular rimsoccurred occasionally at all levels. Fibro-adipose meniscoidoccurred regularly in the atlanto-axial and zygapophysial joints.The function of fibroadipose meniscoids seems to be to protectthe articular cartilages in gliding joints that subluxate duringnormal movement. Arguments are raised that these structuresmay act as a nidus for intra-articular fibrosis, and that meniscusextrapment may be a mechanism for torticollis. KEY WORDS: Cervical spine, Synovial joints, Meniscoids