CCL3L1 copy number, CCR5 genotype and susceptibility to tuberculosis

Background

22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion syndrome, which occurs in approximately 1:4000 births. Familial autosomal dominant recurrence of the syndrome is detected in about 8-28% of the cases. Aim of this study is to evaluate the intergenerational and intrafamilial phenotypic variability in a cohort of familial cases carrying a 22q11.2 deletion.

Methods

Thirty-two 22q11.2DS subjects among 26 families were enrolled.

Results

Second generation subjects showed a significantly higher number of features than their transmitting parents (212 vs 129, P?=?0.0015). Congenital heart defect, calcium-phosphorus metabolism abnormalities, developmental and speech delay were more represented in the second generation (P?<?0.05). Ocular disorders were more frequent in the parent group. No significant difference was observed for the other clinical variables. Intrafamilial phenotypic heterogeneity was identified in the pedigrees. In 23/32 families, a higher number of features were found in individuals from the second generation and a more severe phenotype was observed in almost all of them, indicating the worsening of the phenotype over generations. Both genetic and epigenetic mechanisms may be involved in the phenotypic variability.

Conclusions

Second generation subjects showed a more complex phenotype in comparison to those from the first generation. Both ascertainment bias related to patient selection or to the low rate of reproductive fitness of adults with a more severe phenotype, and several not well defined molecular mechanism, could explain intergenerational and intrafamilial phenotypic variability in this syndrome.     

Isolated brachial artery aneurysm: a rare presentation of paediatric Behçet’s disease

Behçet’s disease is a rare disease characterised by recurrent oral ulcers, with systemic manifestations including genital ulcers, ocular disease, skin lesions, gastrointestinal disease, neurologic disease, vascular disease and arthritis. Most clinical manifestations of Behçet’s disease are believed to be due to vasculitis. The heterogeneous clinical spectrum is influenced by sex, ethnicity and country of residence. Vascular manifestation in the form of isolated large brachial artery aneurysm is rare in children. Treatment involves aneurysmorrhaphy to avoid rupture or ischaemic sequelae in addition to lifelong medical management to control vasculitis.     

Accuracy assessment of three‐dimensional surface reconstructions of teeth from Cone Beam Computed Tomography scans

Summary The use of three‐dimensional (3D) models of the dentition obtained from cone beam computed tomography (CBCT) is becoming increasingly more popular in dentistry. A recent trend is to replace the traditional dental casts with digital CBCT models for diagnosis, treatment planning and simulation. The accuracy of these models was previously assessed through comparing linear physical and radiographical measurements. However, this assessment technique is both observer and landmark dependent. The accuracy of 3D CBCT teeth reconstructions is yet to be reliably measured. To assess the accuracy of 3D CBCT reconstructions of the teeth using a semi‐automated and observer‐independent method and to assess the influence of field of view (FoV) selection on reconstruction accuracy. Fully dentate upper and lower dry human jaws, placed in a plastic box and immersed in water, were scanned using CBCT with small, medium and large FoV. The teeth were then scanned separately using MicroCT. Cone beam computed tomography and MicroCT 3D teeth models were compared, and mean surface difference was calculated per tooth for each FoV. Mean and (maximum) differences between MicroCT and CBCT were 120 ± 40 (max. 679) μm, 157 ± 39 (max. 824) μ and 207 ± 80 (max. 862) μm for the small, medium and large FoV, respectively. Cone beam computed tomography models were larger than MicroCT because of larger voxel size. Our results indicate that CBCT may provide accurate 3D reconstructions of the teeth that can be useful for some clinical applications.     

Length polymorphism of heterochromatic segment of the Y chromosome in boys with acute leukemia

The extent of length polymorphisms of the heterochromatic and euchromatic segment of the human Y chromosome were investigated in 15 boys with acute leukemia and were compared with 15 normal controls. A greater value of the Yh/F index in relation to controls was established (P < 0.05). The length of the euchromatic segment was also shorter in the patients than the controls (P < 0.05).