Acute shoulder injuries: A clinical review of diagnosis and management in the deployed Naval environment.

Musculoskeletal injuries of the shoulder are a common presentation in primary care. Injuries to this highly mobile region can have a profound impact on the range of movement, resulting in severe functional limitation. The shoulder can also be one of the more complicated regions to examine due to its high mobility, poor localisation of pain and numerous supporting structures. This article aims to review the anatomy of the shoulder, examination technique and the pathology underlying common acute injuries in order to provide guidance to medical personnel deployed with the Royal Navy and Royal Marines.

The acutely swollen knee. Part two--management of traumatic pathology.

The acutely swollen knee is a common presentation of knee pathology in the emergency department and the primary care setting, whether on board ship, in a Regimental Aid Post, or in a Medical Centre. The swollen knee has both traumatic and atraumatic (systemic) causes, all of which can be accurately diagnosed with an understanding of the underlying injury patterns and patho-anatomy. In Part 2 of this paper we consider the traumatic causes and also suggest a combined approach to managing an acutely swollen knee. The taking of a detailed history combined with thorough clinical examination will establish the diagnosis or at least the narrow differential diagnosis in the majority of cases. The use of specialist examination techniques, diagnostic imaging and arthrocentesis can further assist the clinician in confirming the correct diagnosis and thus prescribing the appropriate treatment. This review will endeavour to give a consensus of opinion and structured guidelines in the diagnosis and initial management of patients presenting with acute or recent onset swelling of the knee.

The acutely swollen knee. Part 1: Management of atraumatic pathology.

The acutely swollen knee is a common presentation of knee pathology in the Emergency Department and the primary care setting whether on board ship, a Regimental Aid Post or Medical Centre. The swollen knee has both traumatic and atraumatic (systemic) causes, all of which can be accurately diagnosed with an understanding of the underlying injury patterns and patho-anatomy. In Part One, we will be examining the management of non-traumatic causes, followed by Part Two, looking at traumatic causes, in the next issue of the Journal. A detailed clinical history combined with thorough clinical examination will establish the diagnosis, or at least the narrow differential diagnosis in the majority of cases. The uses of specialist examination techniques, diagnostic imaging and arthrocentesis can further assist the clinician in confirming the correct diagnosis and thus prescribing the appropriate treatment. This review will endeavour to give a consensus of opinion and structured guidelines in the diagnosis and initial management of patients presenting with acute or recent-onset swelling of the knee related to atraumatic pathology.

SU-E-T-533: Evaluating Effective Source Position Corrections during Modeling with Pinnacle Version 9.2 Software for Flattening Free (FFF) Small Field Treatments.

PURPOSE: Advanced treatment delivery techniques require more robust treatment planning system (TPS) models for accurate dose planning and computation. As stereotactic body radiation therapy (SBRT) and volumetric-modulated arc therapy (VMAT) treatments become more prevalent, the ability of the TPS to accurately calculate dose delivered from small fields becomes of greater importance. An additional level of complexity in photon beam modeling is added with the inclusion of flattening filter free (FFF) treatment beams, due to steep in field dose gradients and non uniform penumbra regions. The purpose of this work is to examine the ability of ADAC/Pinnacle TPS to accurately model and calculate dose from small field FFF treatment beams. METHODS: Photon beam data was first modeled using Pinnacle v9.0. Flattened and FFF beam models were generated for 6MV and 10MV energies. Models were fine-tuned using a 5×5 cm2 field as the standard field in order to place more emphasis on the accuracy of the model for the small fields. An upgrade to Pinnacle v9.2 allowed for comparison between version 9.0 and version 9.2. RESULTS: Accurately modeling small fields using Pinnacle v9.0 proved difficult, particularly in the lower penumbra region. An asymmetry appeared in the small field models for both the flattened and FFF models. The Pinnacle v9.2 upgrade eliminated the small field asymmetries, and allowed for more accurate penumbra region calculations. Preliminary results have shown that Pinnacle v9.2 is capable of developing accurate beam models when an emphasis is placed on the small fields. In addition, patient specific dosimetric information for version 9.0 and version 9.2 was also calculated and examined for prostate, head & neck, and lung treatments. CONCLUSIONS: Pinnacle v9.2 showed improved accuracy in small field FFF dose modeling over version 9.0. Comparison of patient dosimetric information reflected the improvement in the small field modeling.

A founder effect in three large Newfoundland families with a novel clinically variable spastic ataxia and supranuclear gaze palsy.

A distinctive slowly progressive neurodegenerative disorder, which falls under a new category of neurological diseases, the hereditary spastic ataxias (HSA), is described in three independently ascertained Newfoundland kindreds. HSA is a heterogeneous group of disorders in which pyramidal tract features overlap cerebellar characteristics. The families are assumed to have the same condition as, although apparently unrelated, all originate in a historically isolated cluster of rural communities and link to the same locus at 12p13, SAX1. Clinically the phenotype is very variable but lower limb hypertonicity and hyperreflexia are early and prominent generally preceded by eye movement abnormality, an impaired vertical downward saccade and a typical involuntary head jerk. These are followed by variable levels of ataxia, dysarthria, and dysphagia. Onset occurs in the first two decades and can be detected in most by early adulthood. Significant mobility problems are present by the fourth decade with a broad based ataxic and spastic gait. MRI scans of brain and spinal cord were normal. Neuropathology showed degeneration of corticospinal tracts and posterior columns and midbrain neuronal loss. The phenotype is striking in its diversity among and within families and the variability of expression can be observed within the same sibship. Pedigree analysis shows no evidence of anticipation or any sex differences in severity. The condition is unusually prevalent in the province of Newfoundland, which is characteristic of a founder effect followed by isolation and large family size. Fine mapping efforts have reduced the critical interval of the SAX1 locus to 1.9Mb. Identification of the SAX1 gene will help to clarify the pathogenesis of this type of HSA.

Handheld ultrasound diagnosis of extremity fractures.

Hand portable ultrasound has been validated in trauma patients using the FAST technique. The machine's light and rugged design make it suitable for military deployment and they have been successfully used on deployments in Kosovo, Afghanistan and Iraq. Ultrasound is widely accepted in the diagnosis of abdominal and thoracic trauma, however, little work exists on its use in extremity trauma. Although the diagnosis of fractures usually relies on X-ray this may not be readily available at Role 1 or 2. We successfully identified long bone fractures in three patients using hand portable ultrasound during Operation Telic. The technique and ultrasound findings are described and the current literature on this technique is reviewed.

[Superoxyde dismutase 1 gene abnormalities in familial amyotrophic lateral sclerosis: phenotype/genotype correlations. The French experience and review of the literature]. / Les anomalies du gène superoxyde dismutase 1 dans la sclérose latérale amyotrophique familiale: corrélations phénotype/génotype et implications pratiques. L'expérience française et revue de la littérature.

About 20 p. cent of cases of amyotrophic lateral sclerosis are familial (FALS). Fifteen percent of FALS cases are associated with an abnormality in the superoxide dismutase 1 (SOD1) gene. To date, more than 100 different genetic abnormalities have been reported, all except two are autosomal dominant. The clinical characteristics of patients presenting with FALS associated with an SOD1 abnormality is homogeneous when there is no doubt about the hereditary aspect of the genetic abnormality: mean age at onset 42 years, limb onset, slow evolution. Except when present in the setting of a clearly inherited disease (FALS) (several patients through several generations), the causality of a given SOD1 mutation often remains an open question. Consequently, search for SOD1 mutation is not warranted when atypical features such as young age at onset or slow progression are present. Conversely, a complete family study is justified to determine the precise role of a given SOD1 mutation because of the large number of potential SOD1 mutations, the variability of the transmission mode, and the non-exceptional absence of proven causality for ALS. Specific cases where a frequent SOD1 mutation with a recognized causal effect is recognized (no more than 15 out of more than 90 mutations) would be an exception.

Association between anatomical features and anterior knee pain in a "fit" service population.

Anterior knee pain and overuse sports type injuries have been associated with anatomical factors. Specific diagnosis in knee pain is difficult, most service patients are grouped together as "Patello-Femoral Stress Syndrome". Knee pain incidence within the service population is unknown, but thought to be greater than those presenting to General Practitioners. 293 active duty service men (100 Army and 193 Royal Navy) were interviewed and examined in relation to their knees. 138 measurements were made on each subject. 118 admitted to knee problems. Six had specific diagnoses, ranging from patellar tendonitis to ACL deficiency (with marked anterior instability). The remaining 112 individuals formed the study group and examination findings were compared with the 175 without Patello-Femoral Stress Syndrome. The results have been analysed to determine normal ranges and predictors of knee pain. Age, years in the military and results of patello-femoral compression tests were consistently significantly different between the groups. This survey provides useful information on normal values at examination. Q angle measurement was a poor predictor of knee pain. There was no clinically detectable anatomical variant that correlated with the Patello-Femoral Stress Syndrome. There was poor correlation between Tegner activity score and the perceived limitation on sport or work, as assessed on a visual analogue scale.

A locus for autosomal dominant hereditary spastic ataxia, SAX1, maps to chromosome 12p13.

The hereditary spastic ataxias (HSA) are a group of clinically heterogeneous neurodegenerative disorders characterized by lower-limb spasticity and generalized ataxia. HSA was diagnosed in three unrelated autosomal dominant families from Newfoundland, who presented mainly with severe leg spasticity, dysarthria, dysphagia, and ocular-movement abnormalities. A genomewide scan was performed on one family, and linkage to a novel locus for HSA on chromosome 12p13, which contains the as-yet-unidentified gene locus SAX1, was identified. Fine mapping confirmed linkage in the two large families, and the third, smaller family showed LOD scores suggestive of linkage. Haplotype construction by use of 13 polymorphic markers revealed that all three families share a disease haplotype, which key recombinants and overlapping haplotypes refine to about 5 cM, flanked by markers D12S93 and GATA151H05. SAX1 is the first locus mapped for autosomal dominant HSA.

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2.

Amyotrophic lateral sclerosis 2 (ALS2) is an autosomal recessive form of juvenile ALS and has been mapped to human chromosome 2q33. Here we report the identification of two independent deletion mutations linked to ALS2 in the coding exons of the new gene ALS2. These deletion mutations result in frameshifts that generate premature stop codons. ALS2 is expressed in various tissues and cells, including neurons throughout the brain and spinal cord, and encodes a protein containing multiple domains that have homology to RanGEF as well as RhoGEF. Deletion mutations are predicted to cause a loss of protein function, providing strong evidence that ALS2 is the causative gene underlying this form of ALS.

Fluorescent gramicidin derivatives for single-molecule fluorescence and ion channel measurements.

Single-molecule spectroscopies in combination with single-channel patch-clamp measurements have the potential for providing new information on ion channel gating processes. Fluorescent gramicidin derivatives could provide a means for calibrating such experiments since the structure of the open channel is known and the mechanism of gating (peptide dimerization) is generally agreed. We describe here the synthesis and characterization of two pairs of gramicidin derivatives that should prove useful for such studies. They contain robust fluorophores, undergo resonance energy transfer (FRET) when they dimerize, and have single-channel properties close to those of the wild-type channel.

Classification models of child molesters utilizing the Abel Assessment for sexual interest.

OBJECTIVE: The aims of this study are to demonstrate 1) the criterion validity of the Abel Assessment for sexual interest (AASI) based on its ability to discriminate between non child molesters and admitting child molesters, and 2) its resistance to falsification based on its ability to discriminate between liar-denier child molesters and non child molesters. METHOD: A group of 747 participants matched by age, race, and income was used to develop three logistic regression equations. The models compare a group of non child molesting patients under evaluation for other paraphilias to three groups: 1) a group of admitting molesters of girls under 14 years of age, 2) a group of admitting molesters of boys under 14 years of age, and 3) a group believed to be concealing or denying having molested. RESULTS: Both of the equations designed to discriminate between admitting child molesters and non child molesters were statistically significant. The equation contrasting child molesters attempting to conceal or deny their behavior and non child molesting patients was also statistically significant. CONCLUSIONS: The models classifying admitting child molesters versus non child molesters demonstrate criterion validity, while the third model provides evidence of the AASI's resistance to falsification and its utility as a tool in the detection of child molesters who deny the behavior. Results of the equations are reported and suggestions for their use are discussed.

A founder mutation in French-Canadian families with X-linked hereditary neuropathy.

BACKGROUND: The aim of the present study was to identify the mutations in the connexin 32 gene in French-Canadian families with X-linked Charcot-Marie-Tooth disease (CMTX). METHODS: Molecular analysis was performed by nonisotopic single strand conformation polymorphism (SSCP) analysis and sequencing. Clinical evaluation was carried out according to the scale defined by the European Hereditary Motor and Sensory Neuropathy Consortium. RESULTS: In one family, the mutation Arg142Trp was located in the transmembrane domain III whereas, in four other families we identified a novel mutation (Ser26Trp) located in the transmembrane domain I of the connexin 32 gene. Haplotype analysis revealed that these four families are related and suggests a founder mutation. Sixteen patients from these four families were studied. As expected, all the affected males were more clinically affected than the females and all affected patients exhibited some electrophysiological characteristics of demyelination. CONCLUSION: Our study suggests that the Ser26Trp mutation may cause a primary demyelinating neuropathy that is not associated with a specific clinical phenotype. We also find evidence that the majority of kindreds share a common ancestor.

Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family.

We describe a French amyotrophic lateral sclerosis (ALS) family with two distinct mutations in the Cu/Zn superoxide dismutase (SOD1) gene. The D90A mutation has been well described and clearly shown to cause recessive ALS. In this family, affected individuals are heterozygous for the D90A mutation and also carry a single copy of a novel SOD1 mutation, D96N. We propose that in this family both mutations are required for the development of disease.

Three year review following bone anchor repair of acute biceps tendon insertion rupture.

Three patients with acute biceps brachii tendon insertion ruptures were treated (less than 7 days post injury) using bone anchor anatomical repair. Dynamometer assessment of strength in both limbs was performed after completion of rehabilitation and again at 3.3 years after surgery. All patients were male, age 34, 35 and 53 years. Early isokinetic assessment was performed at 6, 7 and 12 months post surgery and medium assessment at 3.3 years post surgery. A full range of movement was achieved at early assessment and maintained into medium term assessment. All patients returned to their full premorbid occupation and sporting activity. Dynamometer strength of a repaired dominant limb equated to two thirds of a normal non dominant limb at early assessment, equal power was found at medium term assessment and a measurable increase in strength in both affected and unaffected arms was seen.

Grounding policy development within an educational setting: an exploration.

OBJECTIVE: To explore an approach for informing the development of regional policy by eliciting the considered views of GP participants at an educational event. In particular we discuss the reaction of GP participants to this approach. (In this instance our GP participants were trainers and the evolving policy under discussion was that of 'clinical governance'.) METHOD: An educational event was planned to facilitate discussion and the recording of the considered views of GP trainer participants. The acceptability of this approach to the participants was evaluated via observation and through feedback forms. RESULTS: While observation suggested that the participants were involved in many lively and constructive discussions, the feedback generated showed that many participants felt uncomfortable about the use of an educational event to inform development. DISCUSSION: We recognize the need to inform and facilitate change through the involvement of those who will be participants in the change process. The rapid timescales imposed by change and the 'burden' of additional research involvement on practitioners are issues. Approaches based on action research and participatory research principles may have potential and can throw light on the difficulties we experienced. CONCLUSION: We need to identify approaches which will allow us to ground development within the views of those to be affected by change. Our own attempt demonstrated difficulties. We would welcome further debate over methods and approaches applicable in this border territory between research, development and education.

Measuring satisfaction with hospital training: why we need a standardized national questionnaire.

Trusts, deaneries and Royal colleges use different questionnaires to measure satisfaction with hospital training. A case is made for a standardized national questionnaire. This could be the first step towards a more coordinated system of training evaluation and approval.

Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping.

Congenital hereditary endothelial dystrophy (CHED) is a corneal disorder that presents with diffuse bilateral corneal clouding. Vision may be severely impaired, and many patients require corneal transplantation. Both autosomal dominant (AD) and autosomal recessive (AR) forms of the disorder have been described. The gene responsible for AD CHED (HGMW-approved symbol CHED1) has been mapped to the pericentromeric region of chromosome 20. Investigating a large, consanguineous Irish pedigree with autosomal recessive CHED, we have previously excluded linkage to this AD CHED locus. We now describe a genome-wide search using homozygosity mapping and DNA pooling. Evidence of linkage to chromosome 20p was demonstrated with a maximum lod score of 9.30 at a recombination fraction of 0.0 using microsatellite marker D20S482. A region of homozygosity in all affected individuals was identified, narrowing the disease gene locus to an 8-cM region flanked by markers D20S113 and D20S882. This AR CHED (HGMW-approved symbol CHED2) disease gene locus is physically and genetically distinct from the AD CHED locus.