Iliopsoas haematoma in a rugby player

Traumatic iliopsoas haematoma is a serious complication of haemorrhage disorders rarely seen in young healthy athletes. It is mostly described in patients on anticoagulant therapy and commonly associated with various degrees of femoral nerve palsy. A 22-year-old male rugby player presented with severe onset of pain in the lower back, right hip flexor/pelvic area following a tackle during a rugby match. Magnetic resonance imaging identified a distinct, hyperechoic heterogeneous mass within the right iliopsoas muscle, confirming a diagnosis of iliopsoas haematoma. The case resolved completely after conservative medical treatment in addition to a period of rest and intense active physical therapy. This case study reports the rare diagnosis of an uncomplicated iliopsoas haematoma following a sports injury in a young athlete.http://sajsm.org.za/index.php/sajsmam2016Sports Medicin

Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors

Background Suicide is a leading cause of death worldwide, and nonfatal suicide attempts, which occur far more frequently, are a major source of disability and social and economic burden. Both have substantial genetic etiology, which is partially shared and partially distinct from that of related psychiatric disorders. Methods We conducted a genome-wide association study (GWAS) of 29,782 suicide attempt (SA) cases and 519,961 controls in the International Suicide Genetics Consortium (ISGC). The GWAS of SA was conditioned on psychiatric disorders using GWAS summary statistics via multitrait-based conditional and joint analysis, to remove genetic effects on SA mediated by psychiatric disorders. We investigated the shared and divergent genetic architectures of SA, psychiatric disorders, and other known risk factors. Results Two loci reached genome-wide significance for SA: the major histocompatibility complex and an intergenic locus on chromosome 7, the latter of which remained associated with SA after conditioning on psychiatric disorders and replicated in an independent cohort from the Million Veteran Program. This locus has been implicated in risk-taking behavior, smoking, and insomnia. SA showed strong genetic correlation with psychiatric disorders, particularly major depression, and also with smoking, pain, risk-taking behavior, sleep disturbances, lower educational attainment, reproductive traits, lower socioeconomic status, and poorer general health. After conditioning on psychiatric disorders, the genetic correlations between SA and psychiatric disorders decreased, whereas those with nonpsychiatric traits remained largely unchanged. Conclusions Our results identify a risk locus that contributes more strongly to SA than other phenotypes and suggest a shared underlying biology between SA and known risk factors that is not mediated by psychiatric disorders.Peer reviewe

The genetics of the mood disorder spectrum:genome-wide association analyses of over 185,000 cases and 439,000 controls

Background Mood disorders (including major depressive disorder and bipolar disorder) affect 10-20% of the population. They range from brief, mild episodes to severe, incapacitating conditions that markedly impact lives. Despite their diagnostic distinction, multiple approaches have shown considerable sharing of risk factors across the mood disorders. Methods To clarify their shared molecular genetic basis, and to highlight disorder-specific associations, we meta-analysed data from the latest Psychiatric Genomics Consortium (PGC) genome-wide association studies of major depression (including data from 23andMe) and bipolar disorder, and an additional major depressive disorder cohort from UK Biobank (total: 185,285 cases, 439,741 controls; non-overlapping N = 609,424). Results Seventy-three loci reached genome-wide significance in the meta-analysis, including 15 that are novel for mood disorders. More genome-wide significant loci from the PGC analysis of major depression than bipolar disorder reached genome-wide significance. Genetic correlations revealed that type 2 bipolar disorder correlates strongly with recurrent and single episode major depressive disorder. Systems biology analyses highlight both similarities and differences between the mood disorders, particularly in the mouse brain cell-types implicated by the expression patterns of associated genes. The mood disorders also differ in their genetic correlation with educational attainment – positive in bipolar disorder but negative in major depressive disorder. Conclusions The mood disorders share several genetic associations, and can be combined effectively to increase variant discovery. However, we demonstrate several differences between these disorders. Analysing subtypes of major depressive disorder and bipolar disorder provides evidence for a genetic mood disorders spectrum

Bipolar multiplex families have an increased burden of common risk variants for psychiatric disorders.

Multiplex families with a high prevalence of a psychiatric disorder are often examined to identify rare genetic variants with large effect sizes. In the present study, we analysed whether the risk for bipolar disorder (BD) in BD multiplex families is influenced by common genetic variants. Furthermore, we investigated whether this risk is conferred mainly by BD-specific risk variants or by variants also associated with the susceptibility to schizophrenia or major depression. In total, 395 individuals from 33 Andalusian BD multiplex families (166 BD, 78 major depressive disorder, 151 unaffected) as well as 438 subjects from an independent, BD case/control cohort (161 unrelated BD, 277 unrelated controls) were analysed. Polygenic risk scores (PRS) for BD, schizophrenia (SCZ), and major depression were calculated and compared between the cohorts. Both the familial BD cases and unaffected family members had higher PRS for all three psychiatric disorders than the independent controls, with BD and SCZ being significant after correction for multiple testing, suggesting a high baseline risk for several psychiatric disorders in the families. Moreover, familial BD cases showed significantly higher BD PRS than unaffected family members and unrelated BD cases. A plausible hypothesis is that, in multiplex families with a general increase in risk for psychiatric disease, BD development is attributable to a high burden of common variants that confer a specific risk for BD. The present analyses demonstrated that common genetic risk variants for psychiatric disorders are likely to contribute to the high incidence of affective psychiatric disorders in the multiplex families. However, the PRS explained only part of the observed phenotypic variance, and rare variants might have also contributed to disease development

Evaluation of measure methods of size assessment on vestibular schwannomas. Correlation between preoperative volumetry with operative therapy results.

1.1.1 Hintergrund und Ziele Hintergrund: Vestibularis-Schwannome (VS) sind benigne Tumore, die von den Schwann'schen Zellen des vestibulären Anteils des VIII. Hirnnerven ausgehen. Diese können operativ, strahlentherapeutisch oder konservativ („wait and scan“) behandelt werden. Chirurgische und radioonkologische Ergebnisse werden anhand funktioneller Hirnnervenresultate bei entsprechenden Tumorgrößen evaluiert. Beide Verfahren sind nur unzureichend vergleichbar, da bislang keine einheitlichen fachübergreifenden Kriterien für die Größenangabe der Tumoren erarbeitet sind. Ziel: Die Bedeutung der Volumetrie für das Abschätzen des postoperativen funktionellen Outcomes bei Vestibularis-Schwannomen soll im Vergleich mit der chirurgisch verwendeten Klassifikation nach Koos ausgearbeitet werden. Zudem soll untersucht werden, ob sich die Formeln nach Gebel und Huttner dazu eignen, das Tumorvolumen abzuschätzen. Beide Formeln werden primär verwendet, um das Ausmaß einer intrakraniellen Blutung volumetrisch zu erfassen. 1.1.2 Methoden (Patienten, Material, Untersuchungsmethoden) Es wurde eine retrospektive Studie mit 100 Patienten durchgeführt. Mithilfe von MRT- Sequenzen wurde der intra- und extrameatale Tumoranteil nach Koos klassifiziert, volumetriert und die maximale Ausdehnung des Tumors in drei Ebenen vermessen. Das Tumorvolumen wurde mithilfe der von Gebel et al. ABC/2-Formel [19] und der ABC/3-Formel [27] geschätzt. Die Funktion des N. facialis wurde anhand der House-Brackmann-Skala prä-und postoperativ nach sechs Monaten bewertet. 1.1.3 Ergebnisse Koos-Klassifikation und Volumetrie korrelieren sehr gut miteinander (r=0,91, p<0,01**). Zudem unterscheiden sich die Volumina der einzelnen Koos-Grade signifikant voneinander (p<0,05*) mit Ausnahme von Koos 1 gegen Koos 2. VS Grad 1 nach Koos umfassen Werte von 0,132 bis 0,392 cm³ (Median 0,210 cm³). Diese Tumoren erzielen zu 100% House-Brackmann-Grad 1. Bei VS Grad 2 finden sich Volumina zwischen 0,107 bis 1,104 cm³ (Median 0,406 cm³). Die Facialisergebnisse erreichen in 71,4% der Fälle Grad 1 und in 28,6% Grad 2. Grad 3 VS erreichen Volumina von 0,737 bis 4,640 cm³ (Median 1,565 cm³). 50% dieser Tumoren erzielen postoperativ Grad 1, 35,7% Grad 2 und 14,3% Grad 3 nach der House-Brackmann-Klassifikation. VS Grad 4 nach Koos zeigen Werte zwischen 2,960 und 33,244 cm³ (Median 7,526 cm³). Das funktionelle Outcome des Nervus facialis beträgt bei 37,5% der Patienten Grad 1, bei 25% Grad 2, bei 27,5% Grad 3 und bei 10% Grad 4. Die geschätzten Volumina korrelieren sehr gut mit den tatsächlich gemessenen Volumina (r=0,96, p<0,01**). Die Formel ABC/2 eignet sich dabei marginal besser als die Formel ABC/3 (r=0,95, p<0,01**). Das Tumorvolumen kann als prädiktiver Faktor für das postoperative Facialis-Ergebnis verwendet werden. Volumina >5,6 cm³ erzielen schlechtere Facialis-Ergebnisse als kleinere Tumore. 1.1.4 Schlussfolgerungen Die Volumenschätzung mittels der ABC/2 Formel eignet sich sehr gut, um das Tumorvolumen zu bestimmen. Diese Schätzung ist klinisch einfach und schnell durchzuführen und ermöglicht eine rasche und zuverlässige Vergleichbarkeit der strahlentherapeutischen und chirurgischen Behandlungsergebnisse. Patienten können mittels der Volumetrie individuell auf ihre zu erwartenden Facialis-Ergebnisse vorbereitet werden. Die Einführung von Publikations-Standards ist unverzichtbar, um die verschiedenen therapeutischen Optionen beim Vestibularis-Schwannom endlich ergebnisorientiert vergleichen zu können. Die von Bassim et al vorgeschlagenen Standards für Publikationen über Vestibularis-Schwannome [5] sollten eingeführt werden.1.2.1 Purpose Vestibular schwannomas (VS) are benign tumors emerging from the glia cells which cover the vestibular part of the 8th cranial nerve. These tumors can be treated surgically, stereotactically or be managed conservatively (“wait and scan”). Treatment results are evaluated by the functions of the cranial nerves. Surgical and radiation treatment can not be easily compared with each other as there do not exist standard ways of measuring the volume of these tumors. The purpose of this study is to evaluate the meaning of volumetry concerning the functional outcome in comparison to the surgical classification system of Koos. In addition the formulas of Gebel and Huttner are tested to estimate the volume of these tumors. Both formulas are normally used to detect the extent of an intracranial haemorrhage. 1.2.2 Materials and methods In a retrospective study the MRIs of 100 patients with a vestibular schwannoma were analyzed. The intra- and extrameatal extent of the tumor was evaluated as well as the maximum extent of the tumor in all three dimensions. The tumors were also classified according to the Koos classification. The tumor volume was estimated with the ABC/2 formula of Gebel et al. and with the formula ABC/3. The function of the 7th cranial nerve was pre- and six months postoperatively evaluated according to the House- Brackmann classification system. 1.2.3 Results The correlation between the Koos classification and the volumetry is significant (r=0.91, p<0.01**). The single categories of the classification differ significantly except for category Koos 1 versus category Koos 2. VS Koos 1 reach from 0.132 to 0.392 cm³ (median 0.210 cm³). These tumors have an excellent postoperative outcome (100% House-Brackmann level 1). VS Koos 2 show volumes between 0.107 cm³ to 1.104 cm³ (median 0.406 cm³). The facial nerve function gains level 1 in 71.4% and level 2 in 28.6% of the cases. The volume of VS Koos 3 is found between 0.737 and 4.640 cm³. 50% of these patients showed level 1 facial function, 35.7% level 2 and 14.3 % level 3 of the House- Brackmann classification. VS Koos 4 have a volume of 2.960 to 33.244 cm³ (median 7.526 cm³). The facial nerve function is level 1 in 37.5%, level 2 in 25%, level 3 in 27.5% and level 4 in 10% of the cases. The estimated volumes correlate significantly with the real volume (r=0.96, p 5.6 cm³ results in significantly worse facial nerve outcome compared to a smaller volume. 1.2.4 Conclusion The estimation of the tumor volume via the ABC/2 formula is reliable, can be done easily and quickly and enables a trustworthy comparison of the different treatment options. Based on the results of the volumetry patients can be prepared for their individual risk of potential facial nerve damage. The implementation of publications standards is essential to finally enable a result orientated comparison of the different therapeutic options concerning vestibular schwannomas. The standards claimed by Bassim et al should be introduced