Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations.

Craniosynostosis, the premature fusion of one or more cranial sutures, affects 1 in 2,500 live births. Isolated single-suture fusion is most prevalent, with sagittal synostosis occurring in 1/5,000 live births. The etiology of isolated (nonsyndromic) single-suture craniosynostosis is largely unknown.

Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay.

Duplications of 17(p11.2p11.2) have been associated with various behavioral manifestations including attention deficits, obsessive-compulsive symptoms, autistic traits, and language delay.

Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.

Purpose: Isobutyryl-CoA dehydrogenase deficiency is a defect in valine metabolism and was first reported in a child with cardiomyopathy, anemia, and secondary carnitine deficiency. We identified 13 isobutyryl-CoA dehydrogenase-deficient patients through newborn screening due to an elevation of C4-acylcarnitine in dried blood spots. Because C4-acylcarnitine represents both isobutyryl- and butyrylcarnitine, elevations are not specific for isobutyryl-CoA dehydrogenase deficiency but are also observed in short-chain acyl-CoA dehydrogenase deficiency.

Raising the benchmark for the 21st century--the 1000 cataract operations audit and survey: outcomes, consultant-supervised training and sourcing NHS choice.

Purpose: Clinical outcomes for phacoemulsification surgery are still compared with the almost 10-year-old benchmark of the 1997-98 National Cataract Surgery Survey (NCSS) published in this journal. Extraneous to the peer-reviewed research literature, more recent databases suggest much better results may be being obtained. This offered the rare opportunity to perform an audit as research investigating if this was indeed the case and a new benchmark is needed, with the additional standard of rigorous study peer review by independent senior ophthalmologists.

Origin of the relaxor state in Pb(B{x}B{1-x}{'})O(3) perovskites.

Molecular dynamics simulations of first-principles-based effective Hamiltonians for Pb(Sc{1/2}Nb{1/2})O(3) under hydrostatic pressure and for Pb(Mg{1/3}Nb{2/3})O(3) at ambient pressure show clear evidence of a relaxor state in both systems. The Burns temperature is identified as the temperature below which dynamic nanoscale polar clusters form, pinned to regions of quenched chemical short-range order. The effect of pressure in Pb(Sc{1/2}Nb{1/2})O(3) demonstrates that the stability of the relaxor state depends on a delicate balance between the energetics that stabilize normal ferroelectricity and the average strength of random local fields which promote the relaxor state.

An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism.

Background: During a genetic study of autism, a female child who met diagnostic criteria for autism spectrum disorder, but also exhibited the cognitive-behavioural profile (CBP) associated with Williams-Beuren syndrome (WBS) was examined. The WBS CBP includes impaired visuospatial ability, an overly friendly personality, excessive non-social anxiety and language delay.

Methods: Using array-based comparative genomic hybridisation (aCGH), a deletion corresponding to BAC RP11-89A20 in the distal end of the WBS deletion interval was detected.

Analgesic addiction and pseudoaddiction in painful chronic illness.

Objectives: Research is needed to enable more effective assessment and treatment of analgesic addiction among patients with painful chronic illnesses and to improve our understanding of the staff-patient interactions that give rise to pseudoaddiction. This study tested predictions that certain drug-use behaviors and pain-coping strategies were associated with analgesic addiction, and that certain were associated with risk of pseudoaddiction.

Methods: Analgesic addiction and risk of pseudoaddiction among patients with sickle cell disease were measured by symptom counts, using an interview method for classifying symptoms as pain-related (pseudoaddiction) or non-pain-related (analgesic addiction).

Adaptation of single photon responses in photoreceptors of the housefly, Musca domestica: a novel spectral analysis.

The absorption of a photon by a photoreceptor triggers a small voltage fluctuation termed the 'bump'. Here, in the housefly, I introduce the bispectrum of photoreceptor noise to characterise the bump under dim light. The bispectrum provides explicit phase information and is not contaminated by Gaussian background noise.

Remodeling protein complexes: insights from the AAA+ unfoldase ClpX and Mu transposase.

Multiprotein complexes in the cell are dynamic entities that are constantly undergoing changes in subunit composition and conformation to carry out their functions. The protein-DNA complex that promotes recombination of the bacteriophage Mu is a prime example of a complex that must undergo specific changes to carry out its function. The Clp/Hsp100 family of AAA+ ATPases plays a critical role in mediating such changes.