A Sailor’s Disease Presenting in Urban America with Red Spots on the Legs

Sailors were often affected by nutritional deficiencies due to the absence of fresh foods on long voyages. One example is the development of scurvy from a lack of vitamin C ingestion. In modern society in which fresh food are available this disease is infrequently recognized. The following case describes a 62-year-old male who presented with “red spots” on his legs and a large area of ecchymosis on his thigh. After initial testing failed to elicit a cause, a dietary history revealed that the patient had a peculiar diet of only ice cream with a total avoidance of fruits and vegetables. This case highlights the importance of a good history and physical examination as the basis for medical diagnosis

A Streamlined Strategy for Aglycone Assembly and Glycosylation

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/102108/1/ange_201307680_sm_miscellaneous_information.pdfhttp://deepblue.lib.umich.edu/bitstream/2027.42/102108/2/13892_ftp.pd

A Streamlined Strategy for Aglycone Assembly and Glycosylation

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/102092/1/13647_ftp.pdfhttp://deepblue.lib.umich.edu/bitstream/2027.42/102092/2/anie_201307680_sm_miscellaneous_information.pd

Outcomes Following Anterior Cruciate Ligament Reconstruction with Patellar Tendon vs Hamstring Autografts: A Systematic Review of Randomized Controlled Trials with a Mean Follow-up of 15 Years

BACKGROUND: The two most common surgical treatment modalities for anterior cruciate ligament reconstruction (ACL), patellar tendon (PT) and hamstring tendon (HS) autografts, have been shown to have outcomes that are both similar and favorable; however, many of these are short or intermediate-term. The objective of this systematic review is to evaluate randomized controlled trials (RCTs) with a minimum 10-year follow-up data to compare the long-term outcomes of ACL reconstructions performed using PT and HS autografts. METHODS: This systematic review followed the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. A search of three databases (PubMed, Cochrane and EMBASE) was performed to identify RCTs with a minimum of 10-year follow-up that compared clinical and/or functional outcomes between PT and HS autografts. RESULTS: Four RCTs with a total of 299 patients were included in the study. The mean follow-up ranged from 10.2 to 17 years (mean, 14.79 years). No significant differences in knee laxity or clinical outcome scores were demonstrated in any of the studies. One study found that PT autografts were significantly more likely to have osteoarthritis identified by radiographic findings. Two studies found that patients with PT autografts reported increase kneeling pain, while none of the four studies reported a difference in anterior knee pain. There were no significant differences in graft failure rates. CONCLUSION: This review demonstrates no long-term difference in clinical or functional outcomes between PT and HS autografts. However, radiographic and subjective outcomes indicate that patients with PT autografts may experience greater kneeling pain and osteoarthritis. Therefore, orthopedic surgeons should consider patient-centric factors when discussing graft options with patients

Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11

Variants in NDUFB11, which encodes a structural component of complex I of the mitochondrial respiratory chain (MRC), were recently independently reported to cause histiocytoid cardiomyopathy (histiocytoid CM) and microphthalmia with linear skin defects syndrome (MLS syndrome). Here we report an additional case of histiocytoid CM, which carries a de novo nonsense variant in NDUFB11 (ENST00000276062.8: c.262C > T; p.[Arg88*]) identified using whole-exome sequencing (WES) of a family trio. An identical variant has been previously reported in association with MLS syndrome. The case we describe here lacked the diagnostic features of MLS syndrome, but a detailed clinical comparison of the two cases revealed significant phenotypic overlap. Heterozygous variants in HCCS (which encodes an important mitochondrially targeted protein) and COX7B, which, like NDUFB11, encodes a protein of the MRC, have also previously been identified in MLS syndrome including a case with features of both MLS syndrome and histiocytoid CM. However, a systematic review of WES data from previously published histiocytoid CM cases, alongside four additional cases presented here for the first time, did not identify any variants in these genes. We conclude that NDUFB11 variants play a role in the pathogenesis of both histiocytoid CM and MLS and that these disorders are allelic (genetically related)

Kinesin family member 6 (kif6) is necessary for spine development in zebrafish

Author Posting. © The Author(s), 2014. This is the author's version of the work. It is posted here by permission of John Wiley & Sons for personal use, not for redistribution. The definitive version was published in Developmental Dynamics 243 (2014): 1646–1657, doi:10.1002/dvdy.24208.Idiopathic scoliosis is a form of spinal deformity that affects 2–3% of children and results in curvature of the spine without structural defects of the vertebral units. The pathogenesis of idiopathic scoliosis remains poorly understood, in part due to the lack of a relevant animal model. We performed a forward mutagenesis screen in zebrafish to identify new models for idiopathic scoliosis. We isolated a recessive zebrafish mutant, called skolios, which develops isolated spinal curvature that arises independent of vertebral malformations. Using meiotic mapping and whole genome sequencing, we identified a nonsense mutation in kinesin family member 6 (kif6gw326) unique to skolios mutants. Three additional kif6 frameshift alleles (gw327, gw328, gw329) were generated with transcription activator-like effector nucleases (TALENs). Zebrafish homozygous or compound heterozygous for kif6 frameshift mutations developed a scoliosis phenotype indistinguishable from skolios mutants, confirming that skolios is caused by the loss of kif6. Although kif6 may play a role in cilia, no evidence for cilia dysfunction was seen in kif6gw326 mutants. Overall, these findings demonstrate a novel role for kif6 in spinal development and identify a new candidate gene for human idiopathic scoliosis.2015-11-1

Signal compensation in CZT detectors grown by the Vertical Bridgman method using a twin-shaping filter technique

CdTe/CZT is now a material consolidated for the detectors realization operating at room temperature, which find a large variety of applications in astrophysics, medical imaging and security. An Italian collaboration, involving the CNR/IMEM and INAF/IASF institutes, was born several years ago with the aim to develop a national capability to produce CZT detectors starting from the material growth to the final detection device. The collection efficiency of the charge carriers affects some important features of these detectors, such as the pulse height, energy resolution, photopeak efficiency. In fact the low mobility of the charge carriers (particularly the holes) and trapping/detrapping phenomena can degrade the CdTe/CZT detector response, depending on the distance between the charge formation position and the collecting electrodes. Two kinds of techniques can be used to improve both the collection efficiency and the energy resolution, based on the optimization of the electrode geometry and/or signal compensation methods. We have implemented a biparametric method that uses a twin pulse shaping active filter to analyze the same signal from the detector: one “slow”, which is proportional to the energy of the incident photon, and one “fast”, which depends on the position of the interaction with respect to the collecting electrode. We present this biparametric technique applied on planar CZT detectors grown by the Vertical Bridgman method at CNR/IMEM (Parma), the experimental results obtained as a function of the bias voltage, photon energy, shaping time pairs and the compensated spectra

Systematic bias in real-world tonometry readings based on laterality?

AIMS: In research settings, the first eye examined tends to have a higher intraocular pressure (IOP) than the second. We sought to verify whether clinicians in Yorkshire, UK, measure IOP in right eyes before left and whether such behavioural factors affect IOP readings at the population level. METHODS: We observed 128 IOP measurements taken by 28 ophthalmologists using Goldmann applanation tonometry (GAT) over a 4-month period in 2018, recording which eye was examined first. All IOP measurements on electronic patient records for Leeds Teaching Hospitals NHS Trust, UK, between January 2002 and June 2017 were extracted, yielding IOP readings for 562,360 eyes, analysed for evidence of systematic bias in IOP measurement. RESULTS: Right eye IOP was measured before left in 112/128 observations (87.5% (95% CI: 75.2%-94.2%)). For IOP measured by GAT, there was no statistically significant difference (p = 0.121) between right and left eye IOP (mean IOP 16.95 and 16.96 mmHg, respectively). Even values of IOP were reported more frequently than odd values (136,503/214,628 (63.6%) were even). Identical IOP readings for both eyes were recorded in 124,392/254,380 patients (48.9%) who had both eyes measured. CONCLUSIONS: Our study found no IOP difference based on laterality, but strong evidence of certain trends associated with IOP measurement by GAT, such as a preference for even values and the same IOP being recorded for both left and right eyes. Such effects may be explained by behavioural aspects of GAT and suggest that there are substantial opportunities for improvement in the way GAT is utilised in real world settings

A comparative study of mutation screening of sarcomeric genes (MYBPC3, MYH7, TNNT2) using single gene approach versus targeted gene panel next generation sequencing in a cohort of HCM patients in Egypt

Background: NGS enables simultaneous sequencing of large numbers of associated genes in genetic heterogeneous disorders, in a more rapid and cost-effective manner than traditional technologies. However there have been limited direct comparisons between NGS and more established technologies to assess the sensitivity and false negative rates of this new approach. The scope of the present manuscript is to compare variants detected in MYBPC3, MYH7 and TNNT2 genes using the stepwise dHPLC/ Sanger versus targeted NGS.Methods: In this study, we have analysed a group of 150 samples of patients from the Bibliotheca Alexandrina-Aswan Heart Centre National HCM program. The genetic testing was simultaneously undertaken by high throughput denaturing high-performance liquid chromatography (dHPLC) followed by Sanger based sequencing and targeted next generation deep sequencing using panel of inherited cardiac genes (ICC). The panel included over 100 genes including the 3 sarcomeric genes. Analysis of the sequencing data of the 3 genes was undertaken in a double blinded strategy.Results: NGS analysis detected all pathogenic and likely pathogenic variants identified by dHPLC (50 in total, some samples had double hits). There was a 0% false negative rate for NGS based analysis. Nineteen variants were missed by dHPLC and detected by NGS, thus increasing the diagnostic yield in this co- analysed cohort from 22.0% (33/150) to 31.3% (47/150). Of interest to note that the mutation spectrum in this Egyptian HCM population revealed a high rate of homozygosity in MYBPC3 and MYH7 genes in comparison to other population studies (6/150, 4%). None of the homozygous samples were detected by dHPLC analysis.Conclusion: NGS provides a useful and rapid tool to allow panoramic screening of several genes simultaneously with a high sensitivity rate amongst genes of known etiologic role allowing high throughput analysis of HCM patients and relevant control series in a less characterised population