Traumatic atlantoaxial rotatory subluxation in an adolescent: a case report

Atlantoaxial rotatory subluxation is rarely caused by trauma in adults. Usually, the treatment of choice is traction using Halo/Gardner-Wells fixation devices for up to six weeks. CASE PRESENTATION: We present the case of a 19-year-old Caucasian woman with traumatic atlantoaxial subluxation. Early reduction three hours after trauma and immobilization using only a soft collar were performed and yielded very good clinical results. CONCLUSION: In the adult population, atlantoaxial subluxation is a rare condition but is severe if untreated. Early treatment implies a non-surgical approach and a good outcome. Conservative treatment is the recommended first step for this condition

Grisel’s syndrome, a rare cause of anomalous head posture in children: a case report

BACKGROUND: Anomalous head posture (AHP) or torticollis is a relatively common condition in children. Torticollis is not a diagnosis, but it is a sign of underlying disease. Grisel’s syndrome (GS) is a rare condition of uncertain etiology characterized by a nontraumatic atlanto-axial subluxation (AAS), secondary to an infection in the head and neck region. It has not been considered, in ophthalmological papers, as a possible cause of AHP. CASE PRESENTATION: A case of AAS secondary to an otitis media is studied. The children showed neck pain, head tilt, and reduction in neck mobility. The patient had complete remission with antibiotic and anti-inflammatory therapy and muscle relaxants. Signs of GS should always be taken into account during ophthalmological examination (recent history of upper airway infections and/or head and neck surgeries associated to a new onset of sudden, painful AHP with normal ocular exam). In such cases it is necessary to require quick execution of radiological examinations (computer tomography and/or nuclear magnetic resonance), which are essential to confirm the diagnosis. CONCLUSION: GS is a multidisciplinary disease. We underline the importance of an accurate orthoptic and ophthalmological examination. Indeed, early detection and diagnosis are fundamental to achieve proper management, avoid neurological complications and lead to a good prognosis

Molecular Mechanism of a Green-Shifted, pH-Dependent Red Fluorescent Protein mKate Variant

Fluorescent proteins that can switch between distinct colors have contributed significantly to modern biomedical imaging technologies and molecular cell biology. Here we report the identification and biochemical analysis of a green-shifted red fluorescent protein variant GmKate, produced by the introduction of two mutations into mKate. Although the mutations decrease the overall brightness of the protein, GmKate is subject to pH-dependent, reversible green-to-red color conversion. At physiological pH, GmKate absorbs blue light (445 nm) and emits green fluorescence (525 nm). At pH above 9.0, GmKate absorbs 598 nm light and emits 646 nm, far-red fluorescence, similar to its sequence homolog mNeptune. Based on optical spectra and crystal structures of GmKate in its green and red states, the reversible color transition is attributed to the different protonation states of the cis-chromophore, an interpretation that was confirmed by quantum chemical calculations. Crystal structures reveal potential hydrogen bond networks around the chromophore that may facilitate the protonation switch, and indicate a molecular basis for the unusual bathochromic shift observed at high pH. This study provides mechanistic insights into the color tuning of mKate variants, which may aid the development of green-to-red color-convertible fluorescent sensors, and suggests GmKate as a prototype of genetically encoded pH sensors for biological studies

Expression of genes for bone morphogenetic proteins BMP-2, BMP-4 and BMP-6 in various parts of the human skeleton

BACKGROUND: Differences in duration of bone healing in various parts of the human skeleton are common experience for orthopaedic surgeons. The reason for these differences is not obvious and not clear.METHODS: In this paper we decided to measure by the use of real-time RT-PCR technique the level of expression of genes for some isoforms of bone morphogenetic proteins (BMPs), whose role is proven in bone formation, bone induction and bone turnover. Seven bone samples recovered from various parts of skeletons from six cadavers of young healthy men who died in traffic accidents were collected. Activity of genes for BMP-2, -4 and -6 was measured by the use of fluorescent SYBR Green I.RESULTS: It was found that expression of m-RNA for BMP-2 and BMP-4 is higher in trabecular bone in epiphyses of long bones, cranial flat bones and corpus mandibulae then in the compact bone of diaphyses of long bones. In all samples examined the expression of m-RNA for BMP-4 was higher than for BMP-2.CONCLUSION: It was shown that m-RNA for BMP-6 is not expressed in the collected samples at all. It is postulated that differences in the level of activation of genes for BMPs is one of the important factors which determine the differences in duration of bone healing of various parts of the human skeleton.Author has checked copyrightDG 16/11/1

Investigating the Epigenetic Effects of a Prototype Smoke-Derived Carcinogen in Human Cells

Global loss of DNA methylation and locus/gene-specific gain of DNA methylation are two distinct hallmarks of carcinogenesis. Aberrant DNA methylation is implicated in smoking-related lung cancer. In this study, we have comprehensively investigated the modulation of DNA methylation consequent to chronic exposure to a prototype smoke-derived carcinogen, benzo[a]pyrene diol epoxide (B[a]PDE), in genomic regions of significance in lung cancer, in normal human cells. We have used a pulldown assay for enrichment of the CpG methylated fraction of cellular DNA combined with microarray platforms, followed by extensive validation through conventional bisulfite-based analysis. Here, we demonstrate strikingly similar patterns of DNA methylation in non-transformed B[a]PDE-treated cells vs control using high-throughput microarray-based DNA methylation profiling confirmed by conventional bisulfite-based DNA methylation analysis. The absence of aberrant DNA methylation in our model system within a timeframe that precedes cellular transformation suggests that following carcinogen exposure, other as yet unknown factors (secondary to carcinogen treatment) may help initiate global loss of DNA methylation and region-specific gain of DNA methylation, which can, in turn, contribute to lung cancer development. Unveiling the initiating events that cause aberrant DNA methylation in lung cancer has tremendous public health relevance, as it can help define future strategies for early detection and prevention of this highly lethal disease