Management of self-inflicted gunshot wounds to the face: retrospective review from a single tertiary care trauma centre.

There are limited published data about the surgical management of self-inflicted facial gunshot wounds. The aim of this retrospective study was to review our management of subjects who initially survive such a wound and were admitted to a tertiary care trauma centre between 2002 and 2012. Only subjects with definitive evidence of a self-inflicted facial gunshot wound and who were admitted alive were included. Data collected included personal and clinical details, characteristics of the gunshot wound, and medical and surgical management. Types of operations and their duration were recorded, and primary reconstruction was divided into early (within the first 48hours after presentation) or delayed (longer than 48hours). Determinants of infection were assessed with univariate analysis. Seventy-six subjects (65 male and 11 female, mean (range) age 44 (18-83) years) were included in the study. Twenty-five patients needed an early surgical airway and five needed emergency intervention to control haemorrhage. Forty-five patients had primary reconstructions (28 early and 17 delayed) and 12 who were treated by delayed repair had a submental entry site to the wound. There were no significant differences in infection rates between those who had early, compared with those who had late, reconstructions. Early primary reconstruction can be successful for patients with self-inflicted facial gunshot wounds, particularly when the entry point of the bullet is in the upper and midface area. Delayed primary reconstruction was more common when the bullet entered the lower face.

The Prevalence of Malformations of Cortical Development in a Pediatric Hereditary Hemorrhagic Telangiectasia Population.

BACKGROUND AND PURPOSE: Brain AVM, cerebral abscess, and ischemic stroke are among the well known neurologic manifestations of hereditary hemorrhagic telangiectasia. However, recently reported data suggest an additional association with malformations of cortical development. The purpose of this study was to determine the prevalence of malformations of cortical development in a population of pediatric patients with hereditary hemorrhagic telangiectasia. MATERIALS AND METHODS: A retrospective review of brain MRIs from 116 pediatric patients was performed. Each patient was referred from our institution's Hereditary Hemorrhagic Telangiectasia Clinic. Each MRI included a 3D sequence, most frequently MPRAGE. The 3D sequence was evaluated by a neuroradiology fellow, with specific attention to the presence or absence of malformations of cortical development. Positive studies were subsequently reviewed by 2 attending neuroradiologists, who rendered a final diagnosis. RESULTS: Fourteen of 116 (12.1%) patients were found to have a malformation of cortical development. Among these 14, there were 12 cases of polymicrogyria and 2 cases of bifrontal periventricular nodular heterotopia. CONCLUSIONS: Pediatric patients with hereditary hemorrhagic telangiectasia have a relatively high prevalence of malformations of cortical development, typically perisylvian polymicrogyria.

Systematic review of high-intensity focused ultrasound ablation in the treatment of breast cancer.

BACKGROUND: A systematic review was undertaken to assess the clinical efficacy of non-invasive high-intensity focused ultrasound (HIFU) ablation in the treatment of breast cancer. METHODS: MEDLINE/PubMed library databases were used to identify all studies published up to December 2013 that evaluated the role of HIFU ablation in the treatment of breast cancer. Studies were eligible if they were performed on patients with breast cancer and objectively recorded at least one clinical outcome measure of response (imaging, histopathological or cosmetic) to HIFU treatment. RESULTS: Nine studies fulfilled the inclusion criteria. The absence of tumour or residual tumour after treatment was reported for 95·8 per cent of patients (160 of 167). No residual tumour was found in 46·2 per cent (55 of 119; range 17-100 per cent), less than 10 per cent residual tumour in 29·4 per cent (35 of 119; range 0-53 per cent), and between 10 and 90 per cent residual tumour in 22·7 per cent (27 of 119; range 0-60 per cent). The most common complication associated with HIFU ablation was pain (40·1 per cent) and less frequently oedema (16·8 per cent), skin burn (4·2 per cent) and pectoralis major injury (3·6 per cent). MRI showed an absence of contrast enhancement after treatment in 82 per cent of patients (31 of 38; range 50-100 per cent), indicative of coagulative necrosis. Correlation of contrast enhancement on pretreatment and post-treatment MRI successfully predicted the presence of residual disease. CONCLUSION: HIFU treatment can induce coagulative necrosis in breast cancers. Complete ablation has not been reported consistently on histopathology and no imaging modality has been able confidently to predict the percentage of complete ablation. Consistent tumour and margin necrosis with reliable follow-up imaging are required before HIFU ablation can be evaluated within large, prospective clinical trials.

The ruptured PIP breast implant.

Public concern erupted about the safety of Poly Implant Prothèse (PIP) breast implants when it was revealed in 2011 that they contained an inferior, unlicensed industrial-grade silicone associated with a high rate of rupture. There followed national guidance for UK clinicians, which led to a considerable increase in referrals of asymptomatic women for breast implant assessment. In this review we discuss possible approaches to screening the PIP cohort and the salient characteristics of a ruptured implant.

Plain abdominal radiographs in patients with Crohn's disease: radiological findings and diagnostic value.

AIM: To determine the diagnostic yield and clinical value of plain film of the abdomen (PFA) in Crohn's disease (CD) patients and to determine whether performance of PFA yields definitive diagnostic information or whether additional imaging examinations are required. MATERIALS AND METHODS: One hundred and seventy-seven CD patients underwent 643 PFAs during the period September 1992 to August 2008. Two radiologists blinded to the clinical details independently evaluated individual PFAs and/or their reports for abnormal findings using the following criteria: normal, small bowel (SB) findings; colonic findings, acute CD complications, extra-colonic findings; global assessment/impression. The results of additional imaging studies performed within 5 days of PFA were recorded and findings were analysed. RESULTS: A mean of 3.6 (range 1-22) PFAs was performed per patient during the study period. Almost 70% of films were normal (n = 449). SB abnormalities were detected in 21.8% (n = 140) PFAs; most commonly dilated loops (18.8%, n = 121) and mucosal oedema (5%, n = 32). Colonic abnormalities were present in 11.4% (n = 73); most commonly mucosal oedema (7.5%, n = 48) and dilated loops (5%, n = 32). Four cases of pneumoperitoneum were detected. There was no case of toxic megacolon. There was one case in which intra-abdominal abscess/collection was suspected and two cases of obstruction/ileus. Extracolonic findings (renal calculi, sacro-iliitis, etc.) were identified in 7.5% (n = 48). PFAs were followed by additional abdominal imaging within 5 days of PFA in 273/643 (42.5%) of cases. CONCLUSION: Despite the high rates of utilization of PFA in CD patients, there is a low incidence of abnormal findings (32.5%). Many of the findings are non-specific and clinically irrelevant and PFA is frequently followed by additional abdominal imaging examinations.

The imaging features of MACROLANE™ in breast augmentation.

Macrolane™ is an injectable, biocompatible, soft-tissue filler that has been available in the UK since 2008 and is promoted for use in breast augmentation. There are few data available on the long-term effects of this relatively new product and concerns have been raised about the implications for breast imaging, in particular breast screening. In this context we present a spectrum of imaging appearances and complications encountered to date.

Minimization of radiation exposure due to computed tomography in inflammatory bowel disease.

Exposure to ionising radiation as a result of diagnostic imaging is increasing among patients with inflammatory bowel disease (IBD), primarily due to the more widespread use of computed tomography (CT). The potentially harmful effects of ionising radiation are a major cause for concern and radiologists, technologists and referring physicians who have a responsibility to the patient to ensure judicious use of those imaging modalities which result in exposure to ionising radiation and, when imaging is necessary, to ensure that a diagnostic quality imaging examination is acquired with lowest possible radiation exposure. This can be achieved by limiting the use of those imaging studies which involve ionising radiation to clinical situations where they are likely to change management, by implementing advances in low-dose CT technology, and, where feasible, by using alternative imaging modalities, such as ultrasonography or magnetic resonance imaging, which avoid radiation exposure.

Experience with concomitant ultrasound-guided foam sclerotherapy and endovenous laser treatment in chronic venous disorder and its influence on Health Related Quality of Life: interim analysis of more than 1000 consecutive procedures.

AIM: The aim of this paper was to evaluate the efficacy of the concomitant use of endovenous laser treatment (ELT) and ultrasound-guided foam sclerotherapy (USGFS) in the management of chronic venous disorder and to objectively analyze the influence of the combination therapy on the Health Related Quality of Life (HRQL) of the treated patients. METHODS: In this prospective series, 1 114 varicose veins in 924 consecutive subjects were treated either with a 980 nm (7-15W) or a 1320 nm (3-10W) endovenous laser. INCLUSION CRITERIA: informed consent, clinical, etiologic, anatomical, and pathophysiological (CEAP) clinical class >or=2, and an accessible vein. EXCLUSION CRITERIA: coagulation disorder, pregnancy, lactation, current thrombosis, systemic disease, poor general health, or allergy to sodium tetradecyl sulfate (STS). ELT was performed on refluxing saphenous truncal and non-saphenous veins, including incompetent perforators. USGFS was utilized to treat selective refluxing, symptomatic varicose tributaries that were not amenable to ELT alone. The Venous Dysfunction Score (VDS) and Health Related Quality of Life (HRQL) were assessed. All of the patients were strictly monitored and had Duplex ultrasound scanning to evaluate for deep vein thrombosis (DVT) at 24-72 hours. Thorough Duplex scanning was done at 1 week, 1 month, 3 months, 6 months, 12 months, and 24 months. RESULTS: At 1 month, there was continued reflux (> 0.5 seconds) in 26 SFJs (3.0%, N=824) and 4 SPJ s (2.5%, N=155) and at 3 months in 15 SFJs (1.8%), 5 SPJ s (3.7%). At 6 months, reflux was present in 10 SFJs (1.2%) and 4 SPJs (2.5%). At a mean of 12+/-10 months of post-treatment follow-up, 4 SFJ (1.9%, N=207) and 1 SPJ (1.9%, N=52) had reflux. Overall, there was elimination of reflux in 98% of junctions. The posterior accessory saphenous veins (PAV: N=117) had 100 % elimination of reflux at 1 month, a result that remained unchanged for more than a year (P<0.001). Similarly, anterior accessory saphenous veins (AAV: N=56), cranial, caudal, or thigh, extensions of the small saphenous vein (CESSV: N=31), and non-saphenous veins and incompetent perforators (NSV, IP: N=31) all had sustained and statistically significant response (P<0.001). Sequentially assessed VDS showed significant improvement (P<0.001). The Aberdeen Varicose Vein Questionnaire (AVVQ) revealed significant improvement in HRQL at 1-2 year (P<0.001). Failed ELT attempts occurred in six cases due to vein spasm (N=4, 0.36%) or fiber/laser machine malfunction (N=2, 0.18%). These veins were successfully treated with ultrasound-guided foam sclerotherapy. Thirty-two patients (2.9%) complained of a small area of numbness at one month. There was complete resolution in 6 (18.8%) of the patients by 6 months. There were four cases of a localized cellulitis at laser venous access sites. These resolved uneventfully with oral antibiotics. There were also two skin reactions, with localized urticaria, due to dressing tape. These required no additional treatment. There were two cases of superficial phlebitis that resolved with continued compression and NSAIDs. There was one asymptomatic popliteal DVT and one uncomplicated superficial skin burn that both resolved uneventfully with no treatment other than observation. No pulmonary embolism (PE), thrombophlebitis, or visual disturbance occurred. CONCLUSIONS: Ultrasound-guided foam sclerotherapy given concomitantly with ELT is safe and highly efficacious in the management of GSV, SSV reflux and in their tributaries or in non-saphenous veins. CVD patients treated with combination therapy given in this manner demonstrated significant improvement in their HRQL.

Crohn's disease: factors associated with exposure to high levels of diagnostic radiation.

AIMS: Exposure to diagnostic radiation may be associated with increased risk of malignancy. The aims of this study were to (1) examine patterns of use of imaging in Crohn's disease; (2) quantify the cumulative effective dose (CED) of diagnostic radiation received by patients; and (3) identify patients at greatest risk of exposure to high levels of diagnostic radiation. METHODS: 409 patients with Crohn's disease were identified at a tertiary centre. CED was calculated retrospectively from imaging performed between July 1992 and June 2007. High exposure was defined as CED>75 mSv, an exposure level which has been reported to increase cancer mortality by 7.3%. Complete data were available for 399 patients. 45 were excluded (20 attended outside the study period, 25 were primarily managed at other centres). RESULTS: Use of computed tomography increased significantly and accounted for 77.2% of diagnostic radiation. Mean CED was 36.1 mSv and exceeded 75 mSv in 15.5% of patients. Factors associated with high cumulative exposure were: age <17 years at diagnosis (hazard ratio 2.1, confidence interval (CI) 1.1 to 4.1), upper gastrointestinal tract disease (odds ratio (OR) 2.4, CI 1.2 to 4.9), penetrating disease (OR 2.0, CI 1.0 to 3.9) and requirement for intravenous steroids (OR 3.7, CI 2.0 to 6.6); infliximab (OR 2.3, CI 1.2 to 4.4); or multiple (>1) surgeries (OR 2.7, CI 1.4 to 5.4). CONCLUSIONS: Identifiable subsets of patients with Crohn's disease are at risk of exposure to significant amounts of diagnostic radiation. Given the background risk of neoplasia and exposure to potentially synergistic agents such as purine analogues and other immune modulators, specialist centres should develop low-radiation imaging protocols.

Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia.

Malignant hyperthermia (MH) is an autosomal dominant disorder that predisposes susceptible individuals to a potentially life-threatening crisis when exposed to commonly used anesthetics. Mutations in the skeletal muscle calcium release channel, ryanodine receptor (RYR1) are associated with MH in over 50% of affected families. Linkage analysis of the RYR1 gene region at 19q13 was performed in a large Brazilian family and a distinct disease co-segregating haplotype was revealed in the majority of members with diagnosis of MH. Subsequent sequencing of RYR1 mutational hot spots revealed a nucleotide substitution of C to T at position 7062, causing a novel amino acid change from Arg2355 to Cys associated with MH in the family. Haplotype analysis of the RYR1 gene area at 19q13 in the family with multiple MH members is an important tool in identification of genetic cause underlying this disease.

Uncovering BRCA1-regulated signalling pathways by microarray-based expression profiling.

The introduction of microarray technology to the scientific and medical communities has dramatically changed the way in which we now address basic biomedical questions. Expression profiling using microarrays facilitates an experimental approach where alterations in the transcript level of entire transcriptomes can be simultaneously assayed in response to defined stimuli. We have used microarray analysis to identify downstream transcriptional targets of the BRCA1 (Breast Cancer 1) tumour-suppressor gene as a means of defining its function. BRCA1 has been implicated in the predisposition to early onset breast and ovarian cancer and while its exact function remains to be defined, roles in DNA repair, cell-cycle control and transcriptional regulation have been implied. In the current study we have generated cell lines with tetracycline-regulated, inducible expression of BRCA1 as a tool to identify genes, which might represent important effectors of BRCA1 function. Oligonucleotide array-based expression profiling identified a number of genes that were upregulated at various times following inducible expression of BRCA1 including the DNA damage-responsive gene GADD45 (Growth Arrest after DNA Damage). Identified targets were confirmed by Northern blot analysis and their functional significance as BRCA1 targets examined.

BRCA1 and GADD45 mediated G2/M cell cycle arrest in response to antimicrotubule agents.

BRCA1 is a tumour suppressor gene implicated in the predisposition to early onset breast and ovarian cancer. We have generated cell lines with inducible expression of BRCA1 to evaluate its role in mediating the cellular response to various chemotherapeutic drugs commonly used in the treatment of breast and ovarian cancer. Induction of BRCA1 in the presence of Taxol and Vincristine resulted in a dramatic increase in cell death; an effect that was preceded by an acute arrest at the G2/M phase of the cell cycle and which correlated with BRCA1 mediated induction of GADD45. A proportion of the arrested cells were blocked in mitosis suggesting activation of both a G2 and a mitotic spindle checkpoint. In contrast, no specific interaction was observed between BRCA1 induction and treatment of cells with a range of DNA damaging agents including Cisplatin and Adriamycin. Inducible expression of GADD45 in the presence of Taxol induced both G2 and mitotic arrest in these cells consistent with a role for GADD45 in contributing to these effects. Our results support a role for both BRCA1 and GADD45 in selectively regulating a G2/M checkpoint in response to antimicrotubule agents and raise the possibility that their expression levels in cells may contribute to the toxicity observed with these compounds.

Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype.

Malignant hyperthermia (MH) is an anesthetic-drug-induced, life-threatening hypermetabolic syndrome caused by abnormal calcium regulation in skeletal muscle. Often inherited as an autosomal dominant trait, MH has linkage to 30 different mutations in the RYR1 gene, which encodes a calcium-release-channel protein found in the sarcoplasmic reticulum membrane in skeletal muscle. All published RYR1 mutations exclusively represent single-nucleotide changes. The present report documents, in exon 44 of RYR1 in two unrelated, MH-susceptible families, a 3-bp deletion that results in deletion of a conserved glutamic acid at position 2347. This is the first deletion, in RYR1, found to be associated with MH susceptibility. MH susceptibility was confirmed among some family members by in vitro diagnostic pharmacological contracture testing of biopsied skeletal muscle. Although a single-amino-acid deletion appears to be a subtle change in the protein, the deletion of Glu2347 from RYR1 produces an unusually large electrically evoked contraction tension in MH-positive individuals, suggesting that this deletion produces an alteration in skeletal-muscle calcium regulation, even in the absence of pharmacological agents.

Posturographic performance in patients with the potential for secondary gain.

OBJECTIVES: To determine the incidence of nonorganic sway patterns on computerized dynamic posturography (CDP) among patients with potential secondary gain compared with patients without any obvious secondary gain. METHODS: A retrospective chart review of 100 patients who underwent clinical evaluation, audiometry, electronystagmography, and CDP was undertaken. Group 1 consisted of 50 patients who were randomly selected from a group who had pending lawsuits, worker's compensation claims, or disability claims. Group 2 consisted of 50 randomly selected patients who had no pending legal status, worker's compensation claims, or disability claims. Previously published criteria for nonorganic sway patterns were then applied to each group. Statistical analysis was performed. RESULTS: The average age of group 1 patients was 43.8 years compared with 63.2 years for group 2 patients (P < 0.0001). Among group 1 patients 50% had normal audiovestibular evaluations compared with only 4% of group 2 patients (P < 0.0001). Nonorganic sway patterns were found in 76% of group 1 patients, but only in 8% of group 2 patients (P < 0.0001). CONCLUSION: Patients who have the potential for secondary gain are generally younger and have a much higher prevalence of normal audiovestibular evaluations and a much higher prevalence of nonorganic sway patterns on CDP. A high degree of clinical suspicion should be maintained when evaluating the dizzy patient who has a pending lawsuit, worker's compensation claim, or disability claim.

Risk factors for hearing loss from meningitis in children: the Children's Hospital experience.

OBJECTIVES: To identify statistically significant risk factors for hearing loss in children with meningitis, determine the overall incidence of hearing loss in a large group of children with confirmed meningitis, and quantify the percentage of children with progressive or fluctuating hearing loss after meningitis. DESIGN: Retrospective analysis. PATIENTS AND OTHER PARTICIPANTS: Four hundred thirty-two children admitted to the Children's Hospital, Birmingham, Ala, from January 1, 1985, to December 31, 1995, with the diagnosis of meningitis. RESULTS: Of 432 children with meningitis, 59 (13.7%) had the development of hearing loss. Of these 59 children, 46 (78.0%) had stable sensorineural hearing loss and 13 (22.0%) had either progressive or fluctuating hearing loss. Of the variables examined using multiple logistic regression backward-elimination modeling, only 5 appeared to be significantly associated with the development of hearing loss: computed tomographic scan evidence of increased intracranial pressure (estimated odds ratio [OR] = 2.3), male sex (OR= 1.9), the common logarithm of glucose levels in the cerebrospinal fluid (OR = 0.58), Streptococcus pneumoniae as the causative organism (OR= 2.1), and the presence of nuchal rigidity (OR = 1.9). In the children with progressive hearing loss, the time for progression varied from 3 months to 4 years before hearing stabilized. CONCLUSIONS: In this study of children diagnosed as having meningitis, hearing loss developed in 59 (13.7%). Forty-six (78.0%) of these children with hearing loss had stable auditory thresholds over time, and 13 (22.0%) exhibited deterioration or fluctuation of acuity over time. Evidence of increased intracranial pressure by computed tomographic scan, male sex, low glucose levels in the patients' cerebrospinal fluid, S pneumoniae as the causative organism, and the presence of nuchal rigidity appear to be significant predictors for future hearing loss.

Comparison of responses to rat and human adrenomedullin in the hindlimb vascular bed of the cat.

Responses to rat (r) adrenomedullin (ADM) and human (h) ADM were compared in the hindlimb vascular bed of the cat under conditions of controlled blood flow. Intra-arterial injections of rADM and hADM in doses of 0.03-1 nmol caused dose-related decreases in hindlimb perfusion pressure. In terms of relative vasodilator activity, rADM was similar to hADM. The time course of the vasodilator response and the recovery half times (T1/2) for the vasodilator response to rADM and hADM were not significantly different. Decreases in hindlimb perfusion pressure in response to rADM and hADM were not altered by the calcitonin gene-related peptide receptor antagonist, rCGRP(8-37), at the same time, vasodilator responses to calcitonin gene-related peptide (CGRP) were significantly reduced. The T1/2 of the vasodilator response to rADM and hADM were significantly greater after administration of the cAMP-selective, type IV phosphodiesterase inhibitor, rolipram. These data demonstrate that decreases in hindlimb perfusion pressure in response to rADM and hADM are similar and that vasodilator responses to rADM are not dependent on the activation of CGRP receptors in the hindlimb vascular bed of the cat. These data further suggest that decreases in hindlimb perfusion pressure in response to rADM are mediated by smooth muscle increases in cAMP levels.

Histological and electron microprobe studies of mineralisation in aluminium-related osteomalacia.

AIMS: To determine a possible mechanism to explain the presence of aluminium lines within fully calcified bone in aluminium-related osteomalacia. METHODS: Fifty five bone cases shown by bone biopsy to be aluminium-related osteomalacia were studied. In 38 specimens aluminium lines were identified within calcified bone by means of the Aluminon stain and a characteristic form of patchy mineralisation was seen within thickened osteoid seams. Five representative examples were analysed quantitatively by histomorphometry and electronprobe X-ray microanalysis and compared with five cases of vitamin D deficiency-related osteomalacia which also had patchy mineralisation. RESULTS: The patchy calcification occupied 40 +/- 8% (mean +/- SEM) of the osteoid and consisted of small focal deposits (less than 40 microns diameter), often (52%) around osteoid osteocytes (probably an underestimate of the association), and larger areas that extended to the aluminium lines at the underlying mineralisation front. Small and large mineralisation nuclei were seen ultrastructurally in the patchy calcification. Quantitative electronprobe X-ray microanalysis showed that calcium concentrations and calcium:phosphorus ratios in the mineralisation nuclei and in the superficial layer of the fully calcified bone of the aluminium-related osteomalacia cases were significantly less than values measured at similar sites in the vitamin D deficiency-related osteomalacia cases. Furthermore, aluminium could not be detected by means of this technique at the mineralisation front or along cement lines in these specimens. CONCLUSIONS: Calcification can occur in thickened osteoid seams in osteomalacia. It can begin around osteoid osteocytes as small deposits that enlarge within the osteoid and extend to the underlying mineralisation front or cement line where aluminium lines may become trapped. Complete calcification of osteoid could account for the presence of aluminium lines within fully calcified bone. The Aluminon stain appears to be a more sensitive method for the detection of aluminium in bone than electronprobe X-ray microanalysis.

The effects of thermally-induced activity in vivo upon the ultrastructure and Na, K and Cl composition of the epithelial cells of sweat glands from patients with cystic fibrosis.

The secretory cells of the fundus of sweat glands from cystic fibrosis (CF) patients had higher Na and Cl contents and showed more granule depletion, cellular disruption and dilated intercellular canaliculi than normal. The cells of the coiled duct also had higher cytoplasmic levels of Na and Cl but were structurally normal. Thermal stimulation produced ultrastructural changes in the CF fundus comparable to normal, including further dilatation of the basolateral clefts, but did not induce the marked changes in the coiled duct which normally occur. The elevated Na and fall in K in the fundus and raised Na and Cl in the coiled duct upon activation, were not observed in the CF glands in which no significant changes were detected.