Operative Treatment of an Atypical Segmental Bipolar Fracture of the Clavicle

Introduction: Clavicle fractures are very common, accounting for approximately 4% of all adult fractures. Segmental bipolar fractures involving the lateral and the medial ends of the clavicle are extremely rare, with only isolated cases reported in the literature. The injury mechanism is often unclear and the management of these fractures remains controversial. Case presentation: Here is to report a case of a segmental bipolar fracture of the clavicle with a lateral fracture and a displaced medial fracture without dislocation of the sternoclavicular joint following a low energy fall to the outstretched hand, and discuss its management. Conclusions: Stability of the clavicle is crucial for shoulder function and care should be taken not to miss or underestimate segmental bipolar fractures even with a low energy mechanism. Authors believe that operative treatment should be taken into consideration for displaced fractures

Observation Versus Embolization in Patients with Blunt Splenic Injury after Trauma: A Propensity Score Analysis

Background: Non-operative management (NOM) is the standard of care in hemodynamically stable patients with blunt splenic injury after trauma. Splenic artery embolization (SAE) is reported to increase observation success rate. Studies demonstrating improved splenic salvage rates with SAE primarily compared SAE with historical controls. The aim of this study was to investigate whether SAE improves success rate compared to observation alone in contemporaneous patients with blunt splenic injury. Methods: We included adult patients with blunt splenic injury admitted to five Level 1 Trauma Centers between January 2009 and December 2012 and selected for NOM. Successful treatment was defined as splenic salvage and no splenic re-intervention. We calculated propensity scores, expressing the probability of undergoing SAE, using multivariable logistic regression and created five strata based on the quintiles of the propensity score distribution. A weighted relative risk (RR) was calculated across strata to express the chances of success with SAE. Results: Two hundred and six patients were included in the study. Treatment was successful in 180 patients: 134/146 (92 %) patients treated with observation and 48/57 (84 %) patients treated with SAE. The weighted RR for success with SAE was 1.17 (0.94-1.45); for complications, the weighted RR was 0.71 (0.41-1.22). The mean number of transfused blood products was 4.4 (SD 9.9) in the observation group versus 9.1 (SD 17.2) in the SAE group. Conclusions: After correction for confounders with propensity score stratification technique, there was no significant difference between embolization and observation alone with regard to successful treatment in patients with blunt splenic injury after trauma

Prognosis and institutionalization of frail community-dwelling older patients following a proximal femoral fracture:a multicenter retrospective cohort study

SUMMARY: Hip fractures are a serious public health issue with major consequences, especially for frail community dwellers. This study found a poor prognosis at 6 months post-trauma with regard to life expectancy and rehabilitation to pre-fracture independency levels. It should be realized that recovery to pre-trauma functioning is not a certainty for frail community-dwelling patients. INTRODUCTION: Proximal femoral fractures are a serious public health issue in the older patient. Although a significant rise in frail community-dwelling elderly is expected because of progressive aging, a clear overview of the outcomes in these patients sustaining a proximal femoral fracture is lacking. This study assessed the prognosis of frail community-dwelling patients who sustained a proximal femoral fracture. METHODS: A multicenter retrospective cohort study was performed on frail community-dwelling patients with a proximal femoral fracture who aged over 70 years. Patients were considered frail if they were classified as American Society of Anesthesiologists score ≥ 4 and/or a BMI < 18.5 kg/m(2) and/or Functional Ambulation Category ≤ 2 pre-trauma. The primary outcome was 6-month mortality. Secondary outcomes were adverse events, health care consumption, rate of institutionalization, and functional recovery. RESULTS: A total of 140 out of 2045 patients matched the inclusion criteria with a median age of 85 (P(25)–P(75) 80–89) years. The 6-month mortality was 58 out of 140 patients (41%). A total of 102 (73%) patients experienced adverse events. At 6 months post-trauma, 29 out of 120 (24%) were readmitted to the hospital. Out of the 82 surviving patients after 6 months, 41 (50%) were unable the return to their home, and only 32 (39%) were able to achieve outdoor ambulation. CONCLUSION: Frail community-dwelling older patients with a proximal femoral fracture have a high risk of death, adverse events, and institutionalization and often do not reobtain their pre-trauma level of independence. Foremost, the results can be used for realistic expectation management

High prevalence of syphilis among demobilized child soldiers in Eastern Congo: a cross-sectional study

<p>Abstract</p> <p>Background</p> <p>Syphilis, a known major public health issue for soldiers during periods of conflict, is exacerbated in the Democratic Republic of Congo due to widespread sexual violence. However, there has been no previous study to determine the extent of this problem. Therefore, we determined the prevalence of syphilis among young demobilized soldiers.</p> <p>Methods</p> <p>Screening of syphilis using the rapid plasma reagin test and the <it>Treponema pallidum </it>hemagglutination assay was conducted in three transit sites of soldier reintegration in 2005. The Fisher Exact probability test was used to compare results.</p> <p>Results</p> <p>The prevalence of syphilis was found to be 3.4%, with almost equal distribution in respect to sex, location.</p> <p>Conclusion</p> <p>Syphilis continues to be highly prevalent in demobilized child soldiers in Eastern Congo. Syphilis screening tests are recommended.</p

High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands

Mutations in microtubule-associated protein tau recently have been identified in familial cases of frontotemporal dementia (FTD). We report the frequency of tau mutations in a large population-based study of FTD carried out in the Netherlands from January 1994 to June 1998. Thirty-seven patients had >/=1 first-degree relative with dementia. A mutation in the tau gene was found in 17.8% of the group of patie

A novel presenilin 1 mutation (L174M) in a large Cuban family with early onset Alzheimer disease.

We studied a Cuban family with presenile dementia (autosomal dominant) consisting of 281 members within six generations, the proband descended from a Spanish founder. Mean age at onset was 59 years of age. Memory impairment was the main symptom in all patients, additionally, ischemic episodes were described in 4 (n = 18) patients. Neuropathological examination of brain material (1 patient) revealed neuronal loss, amyloid plaques, and neurofibrillary tangles. Thirty DNA samples were genotyped (regions on chromosome 1, 3, 10, 12, 14, 17, 19, 20, and 21). A maximum Lod score of 3.79 at theta = 0 was obtained for marker D14S43, located in a 9-cM interval in which all patients shared the same haplotype. Sequencing of the PSEN1 gene revealed a heterozygous base substitution, C520A (exon 6), which is predicted to cause an amino acid change from leucine to methionine in the TMIII of the presenilin 1 protein. The mutation was found to co-segregate with the disease phenotype and the associated disease haplotype. The C --> A change was not observed in 80 control chromosomes from the Cuban population. Leucine at position 174 is highly conserved among species and is identical in prese

Quantitative copy number analysis by Multiplex Ligation-dependent Probe Amplification (MLPA) of BRCA1-associated breast cancer regions identifies BRCAness

Our group has previously employed array Comparative Genomic Hybridization (aCGH) to assess the genomic patterns of BRCA1-mutated breast cancers. We have shown that the so-called BRCA1-like(aCGH) profile is also present in about half of all triple-negative sporadic breast cancers and is predictive for benefit from intensified alkylating chemotherapy. As aCGH is a rather complex method, we translated the BRCA1(aCGH) profile to a Multiplex Ligation-dependent Probe Amplification (MLPA) assay, to identify both BRCA1-mutated breast cancers and sporadic cases with a BRCA1-like(aCGH) profile. The most important genomic regions of the original aCGH based classifier (3q22-27, 5q12-14, 6p23-22, 12p13, 12q21-23, 13q31-34) were mapped to a set of 34 MLPA probes. The training set consisted of 39 BRCA1-like(aCGH) breast cancers and 45 non-BRCA1-like(aCGH) breast cancers, which had previously been analyzed by aCGH. The BRCA1-like(aCGH) group consisted of germline BRCA1-mutated cases and sporadic tumours with low BRCA1 gene expression and/or BRCA1 promoter methylation. We trained a shrunken centroids classifier on the training set and validation was performed on an independent test set of 40 BRCA1-like(aCGH) breast cancers and 32 non-BRCA1-like(aCGH) breast cancer tumours. In addition, we validated the set prospectively on 69 new triple-negative tumours. BRCAness in the training set of 84 tumours could accurately be predicted by prediction analysis of microarrays (PAM) (accuracy 94%). Application of this classifier on the independent validation set correctly predicted BRCA-like status of 62 out of 72 breast tumours (86%). Sensitivity and specificity were 85% and 87%, respectively. When the MLPA-test was subsequently applied to 46 breast tumour samples from a randomized clinical trial, the same survival benefit for BRCA1-like tumours associated with intensified alkylating chemotherapy was shown as was previously reported using the aCGH assay. Since the MLPA assay can identify BRCA1-deficient breast cancer patients, this method could be applied both for clinical genetic testing and as a predictor of treatment benefit. BRCA1-like tumours are highly sensitive to chemotherapy with DNA damaging agents, and most likely to poly ADP ribose polymerase (PARP)-inhibitors. The MLPA assay is rapid and robust, can easily be multiplexed, and works well with DNA derived from paraffin-embedded tissue

Mutations in TITF-1 are associated with benign hereditary chorea

Benign hereditary chorea (BHC) (MIM 118700) is an autosomal dominant movement disorder. The early onset of symptoms (usually before the age of 5 years) and the observation that in some BHC families the symptoms tend to decrease in adulthood suggests that the disorder results from a developmental disturbance of the brain. In contrast to Huntington disease (MIM 143100), BHC is non-progressive and patients have normal or slightly below normal intelligence. There is considerable inter- and intrafamilial variability, including dysarthria, axial dystonia and gait disturbances. Previously, we identified a locus for BHC on chromosome 14 and subsequently identified additional independent families linked to the same locus. Recombination analysis of all chromosome 14-linked families resulted initially in a reduction of the critical interval for the BHC gene to 8.4 cM between markers D14S49 and D14S278. More detailed analysis of the critical region in a small BHC family revealed a de novo deletion of 1.2 Mb harboring the TITF-1 gene, a homeodomain-containing transcription factor essential for the organogenesis of the lung, thyroid and the basal ganglia. Here we report evidence that mutations in TITF-1 are associated with BHC