Abusive head trauma in court: a multi-center study on criminal proceedings in Germany

International Journal of Legal Medicine - The shaken baby syndrome (SBS) is a common variant of abusive head trauma (AHT) in infants and toddlers. Data on the legal outcome of such cases are still...     

Dilution of candidates: the case of iron-related genes in restless legs syndrome

Restless legs syndrome (RLS) is a common multifactorial disease. Some genetic risk factors have been identified. RLS susceptibility also has been related to iron. We therefore asked whether known iron-related genes are candidates for association with RLS and, vice versa, whether known RLS-associated loci influence iron parameters in serum. RLS/control samples (n=954/1814 in the discovery step, 735/736 in replication 1, and 736/735 in replication 2) were tested for association with SNPs located within 4 Mb intervals surrounding each gene from a list of 111 iron-related genes using a discovery threshold of P=5 × 10⁻⁴. Two population cohorts (KORA F3 and F4 with together n=3447) were tested for association of six known RLS loci with iron, ferritin, transferrin, transferrin-saturation, and soluble transferrin receptor. Results were negative. None of the candidate SNPs at the iron-related gene loci was confirmed significantly. An intronic SNP, rs2576036, of KATNAL2 at 18q21.1 was significant in the first (P=0.00085) but not in the second replication step (joint nominal P-value=0.044). Especially, rs1800652 (C282Y) in the HFE gene did not associate with RLS. Moreover, SNPs at the known RLS loci did not significantly affect serum iron parameters in the KORA cohorts. In conclusion, the correlation between RLS and iron parameters in serum may be weaker than assumed. Moreover, in a general power analysis, we show that genetic effects are diluted if they are transmitted via an intermediate trait to an end-phenotype. Sample size formulas are provided for small effect sizes.     

Kohlschütter–Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity

Kohlschütter–Tönz syndrome (KTS) is a rare autosomal recessive disorder characterized by amelogenesis imperfecta, psychomotor delay or regression and seizures starting early in childhood. KTS was established as a distinct clinical entity after the first report by Kohlschütter in 1974, and to date, only a total of 20 pedigrees have been reported. The genetic etiology of KTS remained elusive until recently when mutations in ROGDI were independently identified in three unrelated families and in five likely related Druze families. Herein, we report a clinical and genetic study of 10 KTS families. By using a combination of whole exome sequencing, linkage analysis, and Sanger sequencing, we identify novel homozygous or compound heterozygous ROGDI mutations in five families, all presenting with a typical KTS phenotype. The other families, mostly presenting with additional atypical features, were negative for ROGDI mutations, suggesting genetic heterogeneity of atypical forms of the disease.     

Encapsulation of In Situ Nanoprecipitated Inorganic Materials in Confined Geometries Into a Polymer Shell Using Inverse Miniemulsion

Highly insoluble inorganic nanoparticles can be prepared in situ by precipitation inside of aqueous nanodroplets of cosonicated inverse miniemulsions containing salts, which are readily soluble in water. If the different salt droplets are fused, a hardly soluble salt is formed in the dispersed phase with a size considerably smaller than the size of the droplets. Subsequent encapsulation of the nanoparticles into a polymer shell is achieved by an interfacial polyaddition reaction between a polyol present in the aqueous phase and a (second) monomer (2,4‐toluene diisocyanate (TDI)) in the continuous phase. The materials are studied by transmission electron microscopy, X‐ray diffraction, dynamic light scattering (DLS), and TGA.     

Magnetic Polymer/Nickel Hybrid Nanoparticles Via Miniemulsion Polymerization

This work shows a method to synthesize and encapsulate magnetic nickel nanocrystals into polymeric colloidal particles through miniemulsion polymerization. The nickel nanoparticles are produced by a thermal decomposition method in the presence of oleylamine and triphenylphosphine, which results in a hydrophobic surface. However, being compatible with the monomer does not ensure a successful encapsulation by miniemulsion polymerization, as the nickel nanoparticles are expelled from the polymer particles with increasing styrene conversion due to the poor adhesion interaction between the organic shells of the nickel nanoparticles and the polystyrene. Changing the hydrophobic polystyrene to a polymer with higher polarity such as poly(methyl methacrylate) proves to be efficient for encapsulation of nickel nanoparticles when employing a hydrophilic initiator. After encapsulation, these nanoparticles show magnetic response.

     

High frequency of MYC gene amplification is a common feature of radiation‐induced sarcomas. Further results from EORTC STBSG TL 01/01

Irradiation is a major causative factor among the small subgroup of sarcomas with a known etiology. The prognosis of radiation‐induced sarcomas (RIS) is significantly worse than that of their spontaneous counterparts. The most frequent histological subtypes include undifferentiated pleomorphic sarcomas, angiosarcomas, and leiomyosarcomas. A high frequency of MYC amplifications in radiation‐induced angiosarcomas, but not in primary angiosarcomas, has recently been described. To investigate whether MYC amplifications are also frequent in RIS other than angiosarcomas, we analyzed the MYC amplification status of 83 RIS and 192 sporadic sarcomas by fluorescence in situ hybridization. We found significantly higher numbers of MYC amplifications in RIS than in sporadic sarcomas (P < 0.0001), especially in angiosarcomas, undifferentiated pleomorphic sarcomas, and leiomyosarcomas. Angiosarcomas were special in that MYC amplifications were particularly frequent and always high level, while other RIS showed low‐level amplifications. We conclude that MYC amplifications are a frequent feature of RIS as a group and may contribute to the biology of these tumors. © 2012 Wiley Periodicals, Inc.     

Treatment outcomes after uncomplicated and complicated crown fractures in permanent teeth

Clinical Oral Investigations - The objectives of this retrospective clinical study were to describe characteristics of crown fractures in permanent teeth and to investigate the survival of pulp...     

The impact of intraoperative frozen section analysis on final resection margin status,recurrence, and patient outcome with oral squamous cell carcinoma

Clinical Oral Investigations - The objective of this study was to evaluate the diagnostic value of intraoperative frozen section analysis (IFSA) of tumor bed margins in patients with oral squamous...