A Prospective Study Evaluating Factors Affecting Functional Outcome in Patients with Floating Elbow Injury

BackgroundFloating elbow injuries are complex injuries. Due to frequent association with severe soft tissue injuries and polytrauma, they have unpredictable functional outcome. This prospective study is aimed to evaluate the factors affecting functional outcome.MethodsThirty patients with floating elbow injuries were treated at a level 1 trauma center from July 2018 to June 2019 with minimum follow-up of 9 months. The outcome was assessed by disability for arm shoulder and hand score (DASH) and mayo elbow performance score (MEPS).ResultsThe overall incidence was 16.09 per 1000, mostly caused by road traffic accidents and all cases were managed surgically. Age, gender, education, occupation, arm dominance, and mechanism of injury did not significantly affect the outcomes. Open fractures and patients requiring staged procedure were associated with poorer outcomes (p < 0.05); however, delay in surgery for more than 24 h significantly increased the rate of complications. There was no statistical difference in the proportion of patients who had nerve injury pre operatively and post operatively on the final outcome.ConclusionFloating elbow injuries are relatively rare but nowadays the numbers are on the rise. Timely intervention with a multimodal approach and well-supervised rehabilitation can assure better final outcome.     

Sociodemographic,clinical characteristics,and service utilization of young children diagnosed with autism spectrum disorder at a research center in Saudi Arabia: The road to autism spectrum disorder diagnosis

Objectives:To assess how clinical services are accessed and utilized by young children with suspected autism spectrum disorder (ASD) and identifying factors that prevent the early identification of developmental concerns and diagnosis.Methods:This retrospective study examined the sociodemographic and clinical characteristics of a convenience sample of children diagnosed with ASD at the Center for Autism Research, Riyadh, Saudi Arabia between 2016 and 2018. The characteristics of ASD assessment and intervention service use were examined. Additionally, we examined the association between sociodemographic, clinical, and service use variables with the child’s age at the time of the parent’s initial concern and first ASD diagnosis, and the time from first concern to diagnosis.Results:Out of 127 cases, 67 were diagnosed with ASD (mean: 46.88 months, SD: 18.88, median: 42.00, range, 19-93). Most ASD cases had one previous assessment (n=28, 41.8%). Higher sibling numbers were associated with a later age of first concern (p=0.0278). Applied behavior analysis service utilization was associated with later age of first ASD diagnosis (p=0.0336) and longer time to ASD diagnosis (p=0.0301).Conclusion:Larger sample size is needed to further investigate whether these findings are representative of the national experience. Community-based intervention outcome studies should assess the quality of services being provided.     

Toward a “treadmill test” for cognition: Improved prediction of general cognitive ability from the task activated brain

General cognitive ability (GCA) refers to a trait‐like ability that contributes to performance across diverse cognitive tasks. Identifying brain‐based markers of GCA has been a longstanding goal of cognitive and clinical neuroscience. Recently, predictive modeling methods have emerged that build whole‐brain, distributed neural signatures for phenotypes of interest. In this study, we employ a predictive modeling approach to predict GCA based on fMRI task activation patterns during the N‐back working memory task as well as six other tasks in the Human Connectome Project dataset (n = 967), encompassing 15 task contrasts in total. We found tasks are a highly effective basis for prediction of GCA: The 2‐back versus 0‐back contrast achieved a 0.50 correlation with GCA scores in 10‐fold cross‐validation, and 13 out of 15 task contrasts afforded statistically significant prediction of GCA. Additionally, we found that task contrasts that produce greater frontoparietal activation and default mode network deactivation—a brain activation pattern associated with executive processing and higher cognitive demand—are more effective in the prediction of GCA. These results suggest a picture analogous to treadmill testing for cardiac function: Placing the brain in a more cognitively demanding task state significantly improves brain‐based prediction of GCA.     

An Indian Boy with Griscelli Syndrome Type 2: Case Report and Review of Literature

Griscelli syndrome 2 is a rare autosomal recessive disorder of pigmentary dilution of hair, skin, splenohepatomegaly, pancytopenia, immune and neurologic dysfunction. Clinical course is characterized by recurrent infection triggered by uncontrolled T-lymphocyte and macrophage activation, called hemophagocytic syndrome. Since the primary presentation is with depigmented hair, we attempt to highlight diagnostic difficulties in such cases in developing countries like ours where pigmentary changes in hair and skin are commonly attributed to severe malnutrition. We also evaluated phenotype of all 10 cases of genotype (c.C550T; p.R184X), collected from published literature worldwide and emphasize the potential role of above mutation as hotspot in Southeast Asian region.     

Computed tomographic features of puerperal ovarian vein thrombosis

Puerperal ovarian vein thrombosis is a dangerous complication of childbirth and often leads to inferior vena cava thrombosis and multiple pulmonary emboli. Computed tomography of the abdomen is useful in early diagnosis. Two patients with typical computed tomographic features are presented.     

Comparison of Q-switched Nd:YAG laser alone versus its combination with ultrapulse CO2 laser for the treatment of black tattoo

Background: Q-switched lasers are conventionally used for the treatment of black tattoo. However, they require multiple sittings, and the response may be slow due to competing epidermal pigment in dark skin. Objective: To compare the efficacy of Q-switched Nd:YAG laser alone with its combination with ultrapulse CO₂ for the removal of black tattoo. Materials and methods: Sixty patients with black tattoo were randomized into two groups viz., group A and group B. Group A was treated with QS Nd:YAG laser (1064 nm) alone, and group B received combination of ablative ultrapulse CO₂ followed by fixed-dose QS Nd:YAG laser (1064 nm), at 6-week interval for a maximum of 6 sittings. After each sitting, 3 independent physicians noted percentage of improvement that was evaluated using visual analogue scale (VAS) and grading system for tattoo ink lightening (TIL). Results: Combination laser (group B) showed statistically significant improvement in mean VAS score in the last 2 noted visits as compared to 1st session (p < 0.007, p < 0.001) and TIL mean score in last three noted visits as compared to 1st session (p < 0.008, p < 0.020, and p < 0.004). There was no statistically significant difference in the side effect profile of both the groups. Conclusion: For refractory professional tattoos, combination of ultrapulse CO₂ laser and QS Nd:YAG laser is superior to QS Nd:YAG laser alone.     

Magnetic resonance imaging-guided percutaneous biopsy of musculoskeletal lesions

BACKGROUND: Bone, soft-tissue, and articular lesions are often well visualized by magnetic resonance imaging. Our goal was to evaluate the diagnostic performance of magnetic resonance imaging-guided biopsies of selected musculoskeletal lesions. METHODS: In this retrospective case series, forty-five consecutive biopsies were performed in an open mid-field 0.5-T interventional magnetic resonance imaging unit with a real-time guidance system. The biopsies were performed at twenty bone, eighteen extra-articular soft-tissue, and seven intra-articular soft-tissue sites. The main reasons for using magnetic resonance imaging guidance were the need to improve lesion conspicuity compared with that provided by other imaging modalities, the need for site-specific targeting within the lesion, and the need for real-time guidance. Samples were obtained with fine-needle aspiration, core-needle biopsy, or a combination of these techniques. An independent reference standard was used to confirm the final diagnosis. Diagnostic performance was evaluated on the basis of the diagnostic yield (the proportion of biopsies yielding sufficient material for pathological evaluation) and diagnostic accuracy (sensitivity, specificity, positive predictive value, and negative predictive value). Complications were identified as well. RESULTS: The diagnostic yield was 91% (forty-one of forty-five biopsies yielded sufficient material for a diagnosis) overall, 95% (nineteen of twenty) for the bone lesions, 94% (seventeen of eighteen) for the extra-articular soft-tissue lesions, and 71% (five of seven) for the intra-articular soft-tissue lesions. With regard to the diagnostic accuracy, the sensitivity was 0.86, the specificity was 1.00, the positive predictive value was 1.00, and the negative predictive value was 0.76 in the overall group. The respective values were 0.92, 1.00, 1.00, and 0.86 for the bone lesions; 0.77, 1.00, 1.00, and 0.57 for the extra-articular soft-tissue lesions; and 1.00, 1.00, 1.00, and 1.00 for the intra-articular soft-tissue lesions. There was one complication: exacerbation of neuropathic pain related to a biopsy of a peripheral nerve sheath tumor. CONCLUSIONS: Magnetic resonance imaging-guided percutaneous biopsies of musculoskeletal lesions for which other imaging modalities might be inadequate have a good diagnostic performance overall. The performance can be very good for bone lesions, moderate for extra-articular soft-tissue lesions, and fair for intra-articular soft-tissue lesions.     

基于隐马尔可夫模型的全外显子测序拷贝数变异检测算法研究

拷贝数变异(CNV)是基因组变异的一种非平衡结构变异,与癌症等许多复杂疾病相关.目前,基于隐马尔可夫模型(HMM)的CNV检测算法已经成为基因检测研究中的一大热点,但是对于这些基于HMM的CNV检测工具并没有进行过系统的比较,导致在应用时选择困难.选取5种具有代表性的基于HMM的CNV检测工具:ExomeDepth、E...