Repeat Gamma Knife surgery for recurrent trigeminal neuralgia: long-term outcomes and systematic review.

Object The purpose of this study was to establish the safety and efficacy of repeat Gamma Knife surgery (GKS) for recurrent trigeminal neuralgia (TN). Methods Using the prospective database of TN patients treated with GKS in Timone University Hospital (Marseille, France), data were analyzed for 737 patients undergoing GKS for TN Type 1 from July 1992 to November 2010. Among the 497 patients with initial pain cessation, 34.4% (157/456 with ≥ 1-year follow-up) experienced at least 1 recurrence. Thirteen patients (1.8%) were considered for a second GKS, proposed only if the patients had good and prolonged initial pain cessation after the first GKS, with no other treatment alternative at the moment of recurrence. As for the first GKS, a single 4-mm isocenter was positioned in the cisternal portion of the trigeminal nerve at a median distance of 7.6 mm (range 4-14 mm) anterior to the emergence of the nerve (retrogasserian target). A median maximum dose of 90 Gy (range 70-90 Gy) was delivered. Data for 9 patients with at least 1-year followup were analyzed. A systematic review of literature was also performed, and results are compared with those of the Marseille study. Results The median time to retreatment in the Marseille study was 72 months (range 12-125 months) and in the literature it was 17 months (range 3-146 months). In the Marseille study, the median follow-up period was 33.9 months (range 12-96 months), and 8 of 9 patients (88.9%) had initial pain cessation with a median of 6.5 days (range 1-180 days). The actuarial rate for new hypesthesia was 33.3% at 6 months and 50% at 1 year, which remained stable for 7 years. The actuarial probabilities of maintaining pain relief without medication at 6 months and 1 year were 100% and 75%, respectively, and remained stable for 7 years. The systematic review analyzed 20 peer-reviewed studies reporting outcomes for repeat GKS for recurrent TN, with a total of 626 patients. Both the selection of the cases for retreatment and the way of reporting outcomes vary widely among studies, with a median rate for initial pain cessation of 88% (range 60%-100%) and for new hypesthesia of 33% (range 11%-80%). Conclusions Results from the Marseille study raise the question of surgical alternatives after failed GKS for TN. The rates of initial pain cessation and recurrence seem comparable to, or even better than, those of the first GKS, according to different studies, but toxicity is much higher, both in the Marseille study and in the published data. Neither the Marseille study data nor literature data answer the 3 cardinal questions regarding repeat radiosurgery in recurrent TN: which patients to retreat, which target is optimal, and which dose to use.

Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.

This study aimed to elucidate the observed variable phenotypic expressivity associated with NRXN1 (Neurexin 1) haploinsufficiency by analyses of the largest cohort of patients with NRXN1 exonic deletions described to date and by comprehensively reviewing all comparable copy number variants in all disease cohorts that have been published in the peer reviewed literature (30 separate papers in all). Assessment of the clinical details in 25 previously undescribed individuals with NRXN1 exonic deletions demonstrated recurrent phenotypic features consisting of moderate to severe intellectual disability (91%), severe language delay (81%), autism spectrum disorder (65%), seizures (43%), and hypotonia (38%). These showed considerable overlap with previously reported NRXN1-deletion associated phenotypes in terms of both spectrum and frequency. However, we did not find evidence for an association between deletions involving the β-isoform of neurexin-1 and increased head size, as was recently published in four cases with a deletion involving the C-terminus of NRXN1. We identified additional rare copy number variants in 20% of cases. This study supports a pathogenic role for heterozygous exonic deletions of NRXN1 in neurodevelopmental disorders. The additional rare copy number variants identified may act as possible phenotypic modifiers as suggested in a recent digenic model of neurodevelopmental disorders. © 2013 Wiley Periodicals, Inc.

Seeking good peer review in geomorphology

This paper provides an extended guide to reviewing for ESPL in particular and geomorphology in general. After a brief consideration of both how we choose reviewers and why we hope that reviewers will accept, I consider what makes a fair and constructive review. I note that we aim to publish papers with the rigour (r) necessary to sustain an original and significant contribution (q). I note that judging q is increasingly difficult because of the ever-growing size of the discipline (the Q). This is the sense in which we rarely have a full appreciation of Q, and our reviews are inevitably going to contain some bias. It is this bias that cannot be avoided (cf. Nicholas and Gordon, 2011) and makes the job of ESPL's Editors of critical importance. With this in mind, I identify six elements of a good review: (1) an introductory statement that explains your assessment of your competences in relation to the manuscript (r and Q); (2) a summative view of the originality and significance of the manuscript (q) in relation to Q: (3) a summative view of the methodological rigour of the manuscript (r); (4) identification and justification of any major concerns; (5) identification of any minor issues to be corrected if you think the manuscript merits eventual publication; and (6) note of any typographical or presentation issues to be addressed although this latter activity is also an editorial responsibility. In addition, I note the importance of a constructive review, grounded in what is written in the manuscript, justified where appropriate and avoiding reference to personal views as far as is possible. I conclude with a discussion of whether or not you should sign your review openly and the importance of reviewer confidentiality. Copyright (C) 2012 John Wiley & Sons, Ltd.

Partir de soi, rencontrer l'autre--quelques réflexions sur la formation de psychiatre [The self and the other: a few comments on psychiatric education].

This manuscript has served for an oral presentation in honour of Professor Pierre Bovet who retired from his position as head physician at the Department of Psychiatry of the Lausanne University Hospital, Switzerland. Pierre Bovet has focused his clinical and scientific interest and his teaching activities on the schizophrenic spectrum disorders. The author tries to describe the essential elements of a clinical attitude which allows to really encounter the patient.

The value of 'positive' clinical signs for weakness, sensory and gait disorders in conversion disorder: a systematic and narrative review.

Experts in the field of conversion disorder have suggested for the upcoming DSM-V edition to put less weight on the associated psychological factors and to emphasise the role of clinical findings. Indeed, a critical step in reaching a diagnosis of conversion disorder is careful bedside neurological examination, aimed at excluding organic signs and identifying 'positive' signs suggestive of a functional disorder. These positive signs are well known to all trained neurologists but their validity is still not established. The aim of this study is to provide current evidence regarding their sensitivity and specificity. We conducted a systematic search on motor, sensory and gait functional signs in Embase, Medline, PsycINfo from 1965 to June 2012. Studies in English, German or French reporting objective data on more than 10 participants in a controlled design were included in a systematic review. Other relevant signs are discussed in a narrative review. Eleven controlled studies (out of 147 eligible articles) describing 14 signs (7 motor, 5 sensory, 2 gait) reported low sensitivity of 8-100% but high specificity of 92-100%. Studies were evidence class III, only two had a blinded design and none reported on inter-rater reliability of the signs. Clinical signs for functional neurological symptoms are numerous but only 14 have been validated; overall they have low sensitivity but high specificity and their use should thus be recommended, especially with the introduction of the new DSM-V criteria.

Resolution of foveal detachment in dome-shaped macula after treatment by spironolactone: report of two cases and mini-review of the literature.

Dome-shaped macula (DSM) was recently described in myopic patients as a convex protrusion of the macula within a posterior pole staphyloma. The pathogenesis of DSM and the development of associated serous foveal detachment (SFD) remain unclear. The obstruction of choroidal outflow and compressive changes of choroidal capillaries have been proposed as causative factors. In this paper, we report two cases of patients with chronic SFD associated with DSM treated with oral spironolactone. After treatment, there was a complete resolution of SFD in both patients. To the best of our knowledge, this is the first report of successful treatment of SFD in DSM by a mineralocorticoid receptor antagonist.

Composition of fingermark residue: a qualitative and quantitative review

This article describes the composition of fingermark residue as being a complex system with numerous compounds coming from different sources and evolving over time from the initial composition (corresponding to the composition right after deposition) to the aged composition (corresponding to the evolution of the initial composition over time). This complex system will additionally vary due to effects of numerous influence factors grouped in five different classes: the donor characteristics, the deposition conditions, the substrate nature, the environmental conditions and the applied enhancement techniques. The initial and aged compositions as well as the influence factors are thus considered in this article to provide a qualitative and quantitative review of all compounds identified in fingermark residue up to now. The analytical techniques used to obtain these data are also enumerated. This review highlights the fact that despite the numerous analytical processes that have already been proposed and tested to elucidate fingermark composition, advanced knowledge is still missing. Thus, there is a real need to conduct future research on the composition of fingermark residue, focusing particularly on quantitative measurements, aging kinetics and effects of influence factors. The results of future research are particularly important for advances in fingermark enhancement and dating technique developments.

Surgery for Hirschsprung's disease: comparison between the Duhamel method and the transanal endorectal pull-through based on 59 patients and a review of the literature

Background:¦Hirschsprung's disease (HSCR) is a congenital malformation of the enteric nervous system due to the¦arrest of migration of neural crest cells to form the myenteric and submucosal plexuses. It leads to an anganglionic intestinal segment, which is permanently contracted causing intestinal obstruction. Its incidence is approximately 1/5000 birth, and males are more frequently affected with a male/female ratio of 4/1. The diagnosis is in most cases made within the first year of life. The rectal biopsy of the mucosa and sub-mucosa is the diagnostic gold standard.¦Purpose:¦The aim of this study was to compare two surgical approaches for HSCR, the Duhamel technique and the transanal endorectal pull-through (TEPT) in term of indications, duration of surgery, duration of hospital stay, postoperative treatment, complications, frequency of enterocolitis and functional outcomes.¦Methods:¦Fifty-nine patients were treated for HSCR by one of the two methods in our department of pediatric¦surgery between 1994 and 2010. These patients were separated into two groups (I: Duhamel, II: TEPT), which were compared on the basis of medical records. Statistics were made to compare the two groups (ANOVA test). The first group includes 43 patients and the second 16 patients. It is noteworthy that twenty-four patients (about 41% of all¦patients) were referred from abroad (Western Africa). Continence was evaluated with the Krickenbeck's score.¦Results:¦Statistically, this study showed that operation duration, hospital stay, postoperative fasting and duration of postoperative antibiotics were significantly shorter (p value < 0.05) in group II (TEPT). But age at operation and length of aganglionic segment showed no significant difference between the two groups. The continence follow-up showed generally good results (Krickenbeck's scores 1; 2.1; 3.1) in both groups with a slight tendency to constipation in group I and soiling in group II.¦Conclusion:¦We found two indications for the Duhamel method that are being referred from a country without¦careful postoperative surveillance and/or having a previous colostomy. Even if the Duhamel technique tends to be replaced by the TEPT, it remains the best operative approach for some selected patients. TEPT has also proved some advantages but must be followed carefully because, among other points, of the postoperative dilatations. Our postoperative standards, like digital rectal examination and anal dilatations seem to reduce the occurrence of complications like rectal spur and anal/anastomosis stenosis, respectively in the Duhamel method and the TEPT technique.

Positional scanning-synthetic peptide library-based analysis of self- and pathogen-derived peptide cross-reactivity with tumor-reactive Melan-A-specific CTL.

Synthetic combinatorial peptide libraries in positional scanning format (PS-SCL) have recently emerged as a useful tool for the analysis of T cell recognition. This includes identification of potentially cross-reactive sequences of self or pathogen origin that could be relevant for the understanding of TCR repertoire selection and maintenance, as well as of the cross-reactive potential of Ag-specific immune responses. In this study, we have analyzed the recognition of sequences retrieved by using a biometric analysis of the data generated by screening a PS-SCL with a tumor-reactive CTL clone specific for an immunodominant peptide from the melanocyte differentiation and tumor-associated Ag Melan-A. We found that 39% of the retrieved peptides were recognized by the CTL clone used for PS-SCL screening. The proportion of peptides recognized was higher among those with both high predicted affinity for the HLA-A2 molecule and high predicted stimulatory score. Interestingly, up to 94% of the retrieved peptides were cross-recognized by other Melan-A-specific CTL. Cross-recognition was at least partially focused, as some peptides were cross-recognized by the majority of CTL. Importantly, stimulation of PBMC from melanoma patients with the most frequently recognized peptides elicited the expansion of heterogeneous CD8(+) T cell populations, one fraction of which cross-recognized Melan-A. Together, these results underline the high predictive value of PS-SCL for the identification of sequences cross-recognized by Ag-specific T cells.

A study of personality in children aged 8-12 years: Comparing self- and partents' ratings

This study was designed to investigate personality development with children aged 8 to 12. For this purpose, Children's self-perceptions were compared to parent's ratings. 506 children and their parents completed a selection of 38 questions from the Hierarchical Personality Inventory for Children (HiPIC). Results showed an age-related increase in the structural congruence of children's ratings compared to parents' ratings and a highly significant increase in the reliabilities of both parents' and children's assessments. The mean correlation between the children's self-descriptions and parents' ratings were higher for Conscientiousness and Imagination than for Extraversion, Benevolence and Emotional Stability and significantly increased with the children's age. Mean-levels decreased with age for Imagination in parents' ratings and for Benevolence, Conscientiousness, and Imagination, in children's ratings. This study showed that personality development from 8 to 12 years goes along with an increase in the agreement between the children's self-perceptions and the parents' perceptions of the children's personality.

Composition of fingermark residue: a qualitative and quantitative review

This article describes the composition of fingermark residue as being a complex system with numerous compounds coming from different sources and evolving over time from the initial composition (corresponding to the composition right after deposition) to the aged composition (corresponding to the evolution of the initial composition over time). This complex system will additionally vary due to effects of numerous influence factors grouped in five different classes: the donor characteristics, the deposition conditions, the substrate nature, the environmental conditions and the applied enhancement techniques. The initial and aged compositions as well as the influence factors are thus considered in this article to provide a qualitative and quantitative review of all compounds identified in fingermark residue up to now. The analytical techniques used to obtain these data are also enumerated. This review highlights the fact that despite the numerous analytical processes that have already been proposed and tested to elucidate fingermark composition, advanced knowledge is still missing. Thus, there is a real need to conduct future research on the composition of fingermark residue, focusing particularly on quantitative measurements, aging kinetics and effects of influence factors. The results of future research are particularly important for advances in fingermark enhancement and dating technique developments.

Viral Retinitis following Intraocular or Periocular Corticosteroid Administration: A Case Series and Comprehensive Review of the Literature.

Abstract Purpose: To describe viral retinitis following intravitreal and periocular corticosteroid administration. Methods: Retrospective case series and comprehensive literature review. Results: We analyzed 5 unreported and 25 previously published cases of viral retinitis following local corticosteroid administration. Causes of retinitis included 23 CMV (76.7%), 5 HSV (16.7%), and 1 each VZV and unspecified (3.3%). Two of 22 tested patients (9.1%) were HIV positive. Twenty-one of 30 (70.0%) cases followed one or more intravitreal injections of triamcinolone acetonide (TA), 4 (13.3%) after one or more posterior sub-Tenon injections of TA, 3 (10.0%) after placement of a 0.59-mg fluocinolone acetonide implant (Retisert), and 1 (3.3%) each after an anterior subconjunctival injection of TA (together with IVTA), an anterior chamber injection, and an anterior sub-Tenon injection. Mean time from most recent corticosteroid administration to development of retinitis was 4.2 months (median 3.8; range 0.25-13.0). Twelve patients (40.0%) had type II diabetes mellitus. Treatments used included systemic antiviral agents (26/30, 86.7%), intravitreal antiviral injections (20/30, 66.7%), and ganciclovir intravitreal implants (4/30, 13.3%). Conclusions: Viral retinitis may develop or reactivate following intraocular or periocular corticosteroid administration. Average time to development of retinitis was 4 months, and CMV was the most frequently observed agent. Diabetes was a frequent co-morbidity and several patients with uveitis who developed retinitis were also receiving systemic immunosuppressive therapy.

Pyoderma gangrenosum after minor trauma in a pregnant woman, mistaken for necrotizing fasciitis: report of a case and literature review.

Abstract Background: Pyoderma gangrenosum is an ulcerative, non-infectious skin disorder. However, it can be mistaken as necrotizing fasciitis, a life-threatening infective condition. We describe here a case of pyoderma gangrenosum after minor trauma treated as necrotizing fasciitis. METHODS: Case report and literature review. CASE REPORT: A 27-year-old pregnant nurse had a pretibial wound after a fall on a rough surface. When erythema developed and no response to empirical antibiotic therapy was observed, multiple debridements were performed. Paradoxically, her condition became worse. The diagnosis of pyoderma gangrenosum was suspected. Treatment with corticosteroids was started and this was successful. CONCLUSION: Pyoderma gangrenosum can mimic infectious necrotizing fasciitis. Differentiating these two conditions is important because mistreatment of pyoderma can lead to disfigurement.