Medico-legal considerations for Morel-Lavallée lesions

Forensic Science, Medicine and Pathology - The Morel-Lavallée lesion is an infrequent traumatic lesion that the forensic physician may need to evaluate during examination of a victim. Using a...     

Expanding the clinical spectrum of the ‘HDAC8‐phenotype’ – implications for molecular diagnostics,counseling and risk prediction

Cornelia de Lange syndrome (CdLS) is a clinically heterogeneous disorder characterized by typical facial dysmorphism, cognitive impairment and multiple congenital anomalies. Approximately 75% of patients carry a variant in one of the five cohesin‐related genes NIPBL, SMC1A, SMC3, RAD21 and HDAC8. Herein we report on the clinical and molecular characterization of 11 patients carrying 10 distinct variants in HDAC8. Given the high number of variants identified so far, we advise sequencing of HDAC8 as an indispensable part of the routine molecular diagnostic for patients with CdLS or CdLS‐overlapping features. The phenotype of our patients is very broad, whereas males tend to be more severely affected than females, who instead often present with less canonical CdLS features. The extensive clinical variability observed in the heterozygous females might be at least partially associated with a completely skewed X‐inactivation, observed in seven out of eight female patients. Our cohort also includes two affected siblings whose unaffected mother was found to be mosaic for the causative mutation inherited to both affected children. This further supports the urgent need for an integration of highly sensitive sequencing technology to allow an appropriate molecular diagnostic, genetic counseling and risk prediction.     

Correlation between groin pain and cup design of hip-resurfacing implants: a prospective study

Purpose

Cup design has been incriminated as the source of groin pain after hip resurfacing but has not been well described; thus, it was assessed in a prospective study looking at three implant types.

Methods

A group-match was done between three groups of hip resurfacing devices according to age, sex, body mass index, activity level, osteoarthritis aetiology and pre-operative scores.

Results

The global groin pain rate was 5.7 % at six months and 2.7 % at last follow-up. Groin pain rate was significantly different between the three groups (p = 0.004) and had a strong influence on the subjective results (p = 0.04). No groin pain emerged between six months and last follow-up. No clinical differences were noted in Harris hip score and Merle d’Aubigné-Postel score at last follow-up. However, the Oxford hip score and Devane activity score were significantly lower for cups with macrostructures.

Conclusion

The low groin pain rate in this prospective cohort was probably secondary to the specific surgical technique used and seems to be correlated with cup design. Macrostructures on the external part of the cup could be significantly harmful.     

Temporary and definitive external fixation of war injuries: use of a French dedicated fixator

Purpose

External fixation is the recommended stabilization method for both open and closed fractures of long bones in forward surgical hospitals. Specific combat surgical tactics are best performed using dedicated external fixators. The Percy Fx© (Biomet) fixator was developed for this reason by the French Army Medical Service, and has been used in various theatres of operations for more than ten years.

Methods

The tactics of Percy Fx© (Biomet) fixator use were analysed in two different situations: for the treatment of French soldiers wounded on several battlefields and then evacuated to France and for the management of local nationals in forward medical treatment facilities in Afghanistan and Chad.

Results

Overall 48 externals fixators were implanted on 37 French casualties; 28 frames were temporary and converted to definitive rigid frames or internal fixation after medical evacuation. The 77 Afghan patients totalled 85 external fixators, including 13 temporary frames applied in Forward Surgical Teams (FSTs) prior to their arrival at the Kabul combat support hospital. All of the 47 Chadian patients were treated in a FST with primary definitive frames because of delayed surgical management and absence of higher level of care in Chad.

Conclusion

Temporary frames were mostly used for French soldiers to facilitate strategic air medical evacuation following trauma damage control orthopaedic principles. Definitive rigid frames permitted achieving treatment of all types of war extremity injuries, even in poor conditions.     

Loss of EBNA1-specific memory CD4+ and CD8+ T cells in HIV-infected patients progressing to AIDS-related non-Hodgkin lymphoma

We previously observed a loss of Epstein-Barr virus (EBV)-specific CD8+ T cells in subjects progressing to EBV-related non-Hodgkin lymphoma (NHL), correlating with loss of CD4+ T cells. The aim of the present study was to determine the role of EBV-specific CD4+ T cells in the development of NHL during chronic HIV infection. To this end, CD4+ and CD8+ memory T cells, capable of both proliferation and subsequent interferon gamma (IFNgamma) production, directed against a latent (Epstein-Barr virus nuclear antigen 1 [EBNA1]) and a lytic (BamH fragment Z left frame 1 [BZLF1]) EBV antigen were studied longitudinally in 9 progressors to NHL, 4 progressors to non-EBV-related AIDS, and 4 slow progressors to AIDS. In all 3 groups we observed a decline of EBV-specific memory CD4+ and CD8+ T-cell responses during HIV infection. However, whereas latent antigen EBNA1-specific CD4+ T cells were lost well before diagnosis in all subjects who developed an AIDS-related NHL (and EBNA1-specific CD8+ T cells were significantly lower compared with the other groups), these cells were better preserved in progressors to non-EBV-related disease and slow progressors. Loss of EBNA1-specific T-cell immunity thus might be important for progression to NHL. Interestingly, BZLF1-specific T cells were not lost in all progressors to NHL, suggesting a different function of these cells in the surveillance of EBV-infected B cells.