Zespół zrostowy kręgosłupa, nadgarstka i śródstopia (rzadko rozpoznawany, nierzadko występujący)

Spondylocarpotarsal synostosis syndrome - a rarely recognised entity - is characterised by malsegmentation of the spine and carpal/tarsal fusions (1,2,5-9). The main reason for the rarity of its diagnosis is that radiographs of the hands and feet are not routinely performed in children with scoliosis and/or kyphoscoliosis, and fusion of the carpal/tarsal bones may not be evident in preschool children. We report four patients with spondylocarpotarsal synostosis syndrome; the diagnosis in three of these was not made until radiographs of the hands were performed. The amount of scoliosis was much less evident in two of these patients (sibs) than in the others

Epidemiology of melanoma in rural southern Queensland

Objective: The objective of this study is to define the epidemiology of melanoma in rural communities in southern Queensland. Design: The design used was a 6‐year clinical record audit of melanoma cases identified by billing records and electronic clinical records, confirmed and typed with histology. Setting and Participants: This study was based on seven agricultural communities on the Darling Downs with patients presenting to local primary care clinics. Main outcome measures: Outcomes measured were confirmed type, depth and anatomic distribution of melanoma identified at these practices during the study period. Results: The results from 317 cases of melanoma found anatomic distribution was significantly different (χ2 = 9.6, P < 0.05) to that reported previously from the Queensland Cancer Registry. A high proportion (87%) of melanoma diagnosed by these general practitioners were 1 mm or less when treated. Conclusions: Conclusions drawn from these findings are that melanoma risk is not so much lesser in rural, inland communities compared with coastal and metropolitan regions, but different. Differences may relate to comprehensive data capture available in rural community studies and to different sun exposure and protection behaviours. The higher proportion of melanoma identified at early stages suggests rural primary care is an effective method of secondary prevention

Asphyxiating thoracic dysplasia

Background: Asphyxiating Thoracic Dysplasia is the most frequent form of Small Thorax - Short Rib Syndromes. Case report: Asphyxiating Thoracic Dysplasia in two patients with different clinical course is reported. Conclusions: Radiographic examination is the only method to diagnose Asphyxiating Thoracic Dysplasia with certainty. The correct diagnosis is important for prognostication and genetic counseling. It also excludes the necessity of further, often expensive investigations

DNA addition or deletion is associated with a major karyotype polymorphism in the fungal phytopathogen Colletotrichum gloeosporioides

A 1.2 Mb minichromosome resolved by pulsed-field electrophoresis was present in two independent race 3 isolates of Colletotrichum gloeosporioides causing Type B anthracnose specifically on Stylosanthes guianensis cv. Graham in Australia. This chromosome was absent in duplicate isolates representing races 1, 2 and 4 which infect other S. guianensis cultivars. A gene library was prepared specifically from the 1.2 Mb mini-chromosome and ten independent DNA clones unique to this chromosome were identified by differential hybridisation to whole chromosome probes. All of the ten selected probes hybridised only to the 1.2 Mb minichromosome unique to the race 3 isolates but not to any chromosome in isolates of the other races. These ten probes also hybridised only to restriction-digested DNA of race 3 and were thus both chromosome- and strain-specific for Type B C. gloeosporioides. Hybridisation analysis of NotI fragments of the 1.2 Mb minichromosome with these sequences indicated that they were not tightly clustered on the chromosome. These data demonstrate that the variation in the occurrence of the 1.2 Mb minichromosome did not arise by rearrangement of the genome of a progenitor strain but involved either large scale deletion or addition of DNA. The 1.2 Mb minichromosome did not contain a cloned high-copy-number repeat sequence present on all other mini- and maxichromosomes, suggesting addition from a genetically distinct strain. All ten chromosome-specific DNA probes hybridised to a 2.0 Mb chromosome in all races of C. gloeosporioides causing Type A anthracnose on Stylosanthes spp. including S. guianensis. Restriction fragment length polymorphism analysis demonstrated that only 15% of the hybridising restriction fragments of the Type A 2.0 Mb chromosome and the 1.2 Mb Type B race 3 minichromosome were identical. This indicated that it is unlikely that the 1.2 Mb minichromosome of the race 3 Type B pathogen was recently introgressed from-the Type A pathogen

Mini-chromosomes of Colletotrichum spp. infecting several host species in various countries

Pulsed-field gel electrophoresis was used to screen 52 isolates of Colletotrichum spp. for the presence of mini-chromosomes in the size range 200–1200 kb. Mini-chromosomes were observed in all isolates of C. gloeosporioides, and in Australian isolates of C. crassipes, C. dematium and C. truncatum, but not in C. musae, C. lindemuthianum and C. trifolii. The mini-chromosome complements of 36 isolates of C. gloeosporioides from the host genus Stylosanthes were investigated. These isolates were obtained in eight countries from Africa, South East Asia and South America and were from six species of Stylosanthes. Two classes of C. gloeosporioides were discerned on the basis of mini-chromosome content, the first class (Mtype 1) had less than six mini-chromosomes and the other class, (Mtype 2) had greater than six mini-chromosomes including one of 600 kb in size. There was no correlation between Mtype and disease symptom produced, pathogen biotype and the host species and country of origin. These results contrast previous correlations of Mtype with disease symptom, pathogen biotype and host range reported for isolates from Stylosanthes in Australia and suggest that a greater genetic diversity exists in pathogen populations outside Australia

Coexistent orbital and cerebellar venous anomalies in linear sebaceous naevus syndrome

Background: Orbital venous anomalies can result in significant morbidity and have been reported in association with other venous anomalies, some with the potential for serious complication. Methods/results: We present a case of an orbital venous anomaly coexistent with a large cerebellar venous angioma and a linear sebaceous naevus. Clinical features, associations, complications .and management principles are presented. Conclusion: Upon clinical recognition of an orbital venous anomaly, brain imaging and appropriate clinical assessment should be considered in light of the possibility of coexistence of potentially life-threatening lesions