A Rare Case of Double-Headed Psoas Minor Muscle with Review of its Known Variants.
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ABSTRACT:
SUBMITTER: Protas M
PROVIDER: S-EPMC5498124 | biostudies-other | 2017 Jun
REPOSITORIES: biostudies-other
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Project description:INTRODUCTION:Soft tissue tumors of Schwann cells in either the peripheral or cranial nerves are known as schwannomas or also as neurilemmomas. Limited data exists regarding psoas muscle schwannoma in the literature. Therefore, we have done an extensive literature review and found a total number of 46 cases of intra-psoas schwannoma including our case, which are summarized in this article along with reporting our new case. PRESENTATION OF CASE:We report a very rare case of primary left intra-psoas muscle schwannoma in a 39-year-old Saudi gentleman, smoker with an unremarkable medical and surgical history. The patient presented to the emergency department with exacerbated chronic lower abdominal pain since almost 2 years. After conforming the diagnosis, the patient was admitted electively and underwent uneventful laparoscopic hand-assisted resection. DISCUSSION:Schwannomas are neurogenic tumors which known to be solitary, benign, well circumscribed, encapsulated, and slow-growing tumors. Multiple imaging modalities are used to detect such a tumor. Although there is no consensus on the best surgical approach, endoscopic mini-laparotomy, laparoscopy (anterior [as in our case] or lateral), and robotic resection were reported with good outcomes. CONCLUSION:Retroperitoneal schwannoma and intra-psoas muscle variant are a rare entity, with slow growing rate and risk of malignant transformation. Therefore, high index of suspicion, good follow-up, and large-cohort studies are encouraged.
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Project description:This study aimed to investigate the associations of computed tomography (CT)-measured psoas muscle index (PMI: psoas muscle area normalized by height) and psoas muscle density (PMD: average of bilateral psoas muscle CT values [Hounsfield unit (HU)]) with mortality in patients undergoing hemodialysis. We included 188 hemodialysis patients who underwent abdominal CT. PMI and PMD were measured at the third lumbar vertebral level. We found that PMI and PMD were independently associated with the geriatric nutritional risk index and log C-reactive protein, respectively. The optimal cut-off values of PMI and PMD for men and women were 3.39 cm2/m2 and 41.6 HU, and 2.13 cm2/m2 and 37.5 HU, respectively. During follow-up (median 3.5 years), 69 patients died. Lower PMI and lower PMD were independently associated with an increased risk of all-cause mortality [adjusted hazard ratio (aHR) 2.05, 95% confidence interval (CI) 1.14-3.68; aHR 3.67, 95% CI 2.04-6.60), respectively]. The aHR for lower PMI and lower PMD vs. higher PMI and higher PMD was 5.34 (95% CI 2.38-11.97). The addition of PMI and PMD to the risk model significantly improved C-index from 0.775 to 0.893 (p < 0.00001). The combination of PMI and PMD may improve mortality prediction in patients undergoing hemodialysis.
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Project description:IntroductionMullerian duct anomaly such as uterine didelphys is a rare congenital anomaly of female genitourinary tract presenting with dysmenorrhea, hematocolpus, and subfertility in adolescent females. It is commonly associated with wolffian duct anomaly like renal agenesis. Here we present a rare association of psoas abscess with uterine didelphys and renal agenesis in a 21-year-old unmarried female.Case presentationWe report a case of 21-year-old female presenting with right hip pain, recurrent genital infections and dysmenorrhea. Her labs suggested infectious etiology whereas radiological investigation revealed right psoas abscess. In addition, she was found to have uterine didelphys with pyometra, right adnexal mass, and right renal agenesis.Clinical discussionUterine didelphys commonly present with dysmenorrhea and hematocolpos along with various non-specific symptoms. Patients can develop psoas abscess secondary to uterine didelphys, but uterine didelphys presenting with psoas abscess is fairly rare. Psoas abscess on itself is a difficult condition to diagnose, more so when associated with rare uterine anomalies.ConclusionThis case highlights the possibility of psoas abscess as a primary presentation of Mullerian duct anomaly. Further, a differential of uterine didelphys should be considered in every reproductive age female presenting with recurrent pelvic infection.
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Project description:Known high-risk cutaneous malignant melanoma (CMM) genes account for melanoma risk in <40% of melanoma-prone families, suggesting the existence of additional high-risk genes or perhaps a polygenic mechanism involving multiple genetic modifiers. The goal of this study was to systematically characterize rare germline variants in 42 established melanoma genes among 144 CMM patients in 76 American CMM families without known mutations using data from whole-exome sequencing. We identified 68 rare (<0.1% in public and in-house control datasets) nonsynonymous variants in 25 genes. We technically validated all loss-of-function, inframe insertion/deletion, and missense variants predicted as deleterious, and followed them up in 1, 559 population-based CMM cases and 1, 633 controls. Several of these variants showed disease co-segregation within families. Of particular interest, a stopgain variant in TYR was present in five of six CMM cases/obligate gene carriers in one family and a single population-based CMM case. A start gain variant in the 5'UTR region of PLA2G6 and a missense variant in ATM were each seen in all three affected people in a single family, respectively. Results from rare variant burden tests showed that familial and population-based CMM patients tended to have higher frequencies of rare germline variants in albinism genes such as TYR, TYRP1, and OCA2 (P < 0.05). Our results suggest that rare nonsynonymous variants in low- or intermediate-risk CMM genes may influence familial CMM predisposition, warranting further investigation of both common and rare variants in genes affecting functionally important pathways (such as melanogenesis) in melanoma risk assessment.
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Project description:Many common genetic factors have been identified to contribute to Parkinson's disease (PD) susceptibility, improving our understanding of the related underlying biological mechanisms. The involvement of rarer variants in these loci has been poorly studied. Using International Parkinson's Disease Genomics Consortium data sets, we performed a comprehensive study to determine the impact of rare variants in 23 previously published genome-wide association studies (GWAS) loci in PD. We applied Prix fixe to select the putative causal genes underneath the GWAS peaks, which was based on underlying functional similarities. The Sequence Kernel Association Test was used to analyze the joint effect of rare, common, or both types of variants on PD susceptibility. All genes were tested simultaneously as a gene set and each gene individually. We observed a moderate association of common variants, confirming the involvement of the known PD risk loci within our genetic data sets. Focusing on rare variants, we identified additional association signals for LRRK2, STBD1, and SPATA19. Our study suggests an involvement of rare variants within several putatively causal genes underneath previously identified PD GWAS peaks.
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Project description:MotivationThe question of how to best use information from known associated variants when conducting disease association studies has yet to be answered. Some studies compute a marginal P-value for each Several Nucleotide Polymorphisms independently, ignoring previously discovered variants. Other studies include known variants as covariates in logistic regression, but a weakness of this standard conditioning strategy is that it does not account for disease prevalence and non-random ascertainment, which can induce a correlation structure between candidate variants and known associated variants even if the variants lie on different chromosomes. Here, we propose a new conditioning approach, which is based in part on the classical technique of liability threshold modeling. Roughly, this method estimates model parameters for each known variant while accounting for the published disease prevalence from the epidemiological literature.ResultsWe show via simulation and application to empirical datasets that our approach outperforms both the no conditioning strategy and the standard conditioning strategy, with a properly controlled false-positive rate. Furthermore, in multiple data sets involving diseases of low prevalence, standard conditioning produces a severe drop in test statistics whereas our approach generally performs as well or better than no conditioning. Our approach may substantially improve disease gene discovery for diseases with many known risk variants.AvailabilityLTSOFT software is available online http://www.hsph.harvard.edu/faculty/alkes-price/software/.
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Project description:BackgroundPremature ovarian insufficiency (POI) is a highly heterogeneous disease, and up to 25% of the cases can be explained by genetic causes. G protein-coupled receptor 3 (GPR3) plays an important role in oocyte arrest, and Gpr3-deficient mice exhibited POI-like phenotypes.Case presentationWe identified two heterozygous missense variants of GPR3: NM_005281: c.C973T (p.R325C) and c.G772A (p.A258T) in two sporadic Han Chinese POI cases through whole exome sequencing and genetic analysis. The two patients were diagnosed as POI in their late 20s, presenting elevated serum levels of follicle stimulating hormone and secondary amenorrhea. Both variants are very rare in the population databases of ExAC, gnomAD and PGG.Han. The affected amino acids are conserved across species and the mutated amino acids are predicted deleterious with bioinformatics prediction tools and the protein three-dimensional structure analysis.ConclusionsIt is the first report of rare GPR3 variants associated with POI women, providing an important piece of evidence for GPR3 as a candidate gene which should be screened in POI. This finding suggested the necessity of including GPR3 in etiology study and genetic counseling of POI patients.
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Project description:BACKGROUND:Sarcopenia, the unintentional loss of skeletal muscle mass, is associated with poor outcomes in adult patient populations. In adults, sarcopenia is often ascertained by cross-sectional imaging of the psoas muscle area (PMA). Although children with chronic medical illnesses may be at increased risk for muscle loss because of nutritional deficiencies, physical deconditioning, endocrine anomalies, and systemic inflammation, consistent quantitative definitions for sarcopenia in children are lacking. We aimed to generate paediatric reference values for PMA at two intervertebral lumbar levels, L3-4 and L4-5. METHODS:In this cross-sectional study, we analysed abdominal computed tomography scans of consecutive children presenting to the emergency department. Participants were children 1-16 years who required abdominal cross-sectional imaging after paediatric trauma between January 1, 2005 and December 31, 2015 in a large Canadian quaternary care centre. Children with a documented chronic medical illness or an acute spinal trauma at presentation were excluded. Total PMA (tPMA) at levels L3-4 and L4-5 were measured in square millimetres (mm2 ) as the sum of left and right PMA. Age-specific and sex-specific tPMA percentile curves were modelled using quantile regression. RESULTS:Computed tomography images from 779 children were included. Values of tPMA at L4-5 were significantly larger than at L3-4 at all ages, but their correlation was high for both girls (r = 0.95) and boys (r = 0.98). Amongst girls, tPMA 50th percentile values ranged from 365 to 2336 mm2 at L3-4 and from 447 to 2704 mm2 for L4-5. Amongst boys, 50th percentile values for tPMA ranged between 394 and 3050 mm2 at L3-4 and from 498 to 3513 mm2 at L4-5. Intraclass correlation coefficients were excellent at L3-4 (0.97, 95% CI 0.94 to 0.981) and L4-5 (0.99, 95% CI 0.986 to 0.995). Weight and tPMA were correlated, stratified by sex for boys (L3-4 r = 0.90; L4-5 r = 0.90) and for girls (L3-4 r = 0.87; L4-5 r = 0.87). An online application was subsequently developed to easily calculate age-specific and sex-specific z-scores and percentiles. CONCLUSIONS:We provide novel paediatric age-specific and sex-specific growth curves for tPMA at intervertebral L3-4 and L4-5 levels for children between the ages of 1-16 years. Together with an online tool (https://ahrc-apps.shinyapps.io/sarcopenia/), these tPMA curves should serve as a reference enabling earlier identification and targeted intervention of sarcopenia in children with chronic medical conditions.
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