University of Saint Mary

About: University of Saint Mary is a education organization based out in Leavenworth, Kansas, United States. It is known for research contribution in the topics: Population & Galaxy. The organization has 2276 authors who have published 2399 publications receiving 58990 citations. The organization is also known as: University of St. Mary & University of St Mary.

Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature.

Abstract: Purpose: Peroxisomes perform complex metabolic and catabolic functions essential for normal growth and development. Mutations in 14 genes cause a spectrum of peroxisomal disease in humans. Most recently, PEX11B was associated with an atypical peroxisome biogenesis disorder (PBD) in a single individual. In this study, we identify further PEX11B cases and delineate associated phenotypes. Methods: Probands from three families underwent next generation sequencing (NGS) for diagnosis of a multisystem developmental disorder. Autozygosity mapping was conducted in one affected sibling pair. ExomeDepth was used to identify copy number variants from NGS data and confirmed by dosage analysis. Biochemical profiling was used to investigate the metabolic signature of the condition. Results: All patients presented with bilateral cataract at birth but the systemic phenotype was variable, including short stature, skeletal abnormalities, and dysmorphism—features not described in the original case. Next generation sequencing identified biallelic loss-of-function mutations in PEX11B as the underlying cause of disease in each case (PEX11B c.235C>T p.(Arg79Ter) homozygous; PEX11B c.136C>T p.(Arg46Ter) homozygous; PEX11B c.595C>T p.(Arg199Ter) heterozygous, PEX11B ex1-3 del heterozygous). Biochemical studies identified very low plasmalogens in one patient, whilst a mildly deranged very long chain fatty acid profile was found in another. Conclusions: Our findings expand the phenotypic spectrum of the condition and underscore congenital cataract as the consistent primary presenting feature. We also find that biochemical measurements of peroxisome function may be disturbed in some cases. Furthermore, diagnosis by NGS is proficient and may circumvent the requirement for an invasive skin biopsy for disease identification from fibroblast cells.

Exposure of the Amino Terminus of Tau Is a Pathological Event in Multiple Tauopathies

Abstract: Pathological changes to the tau protein, including conformational changes and aggregation, are major hallmarks of a group of neurodegenerative disorders known as tauopathies. Among the conformational changes are alterations involving the extreme amino terminus of the protein, known as the phosphatase-activating domain (PAD). Aberrant PAD exposure induces a signaling cascade that leads to disruption of axonal transport, a critical function for neuronal survival. Conformational display of PAD is an early marker of pathological tau in Alzheimer disease (AD), but its role in other tauopathies has yet to be firmly established. We used a relatively novel N-terminal, conformation-sensitive antibody, TNT2, to determine whether misfolding in the amino terminus (ie, PAD exposure) occurs in non-AD tauopathies. We found that TNT2 specifically labeled pathological tau in post-mortem human brain tissue from Pick disease, progressive supranuclear palsy, corticobasal degeneration, and chronic traumatic encephalopathy, but did not label nonpathological, parenchymal tau. Tau13, another N-terminal antibody, was not sensitive to pathological N-terminal conformations. Tau13 did not readily distinguish between normal (ie, parenchymal tau) and pathological tau species and showed a range of effectiveness at identifying tau pathologies in the non-AD tauopathies. These findings demonstrate that the conformational display of the PAD in tau represents a common pathological event in many tauopathies.

Drop Leg Lachman Test A New Test of Anterior Knee Laxity

Abstract: We describe a new method of evaluating anterior cruciate stability that we call the drop leg Lachman test. This test is performed with the patient supine and the leg to be examined abducted off the side of the table and flexed 25 degrees. The thigh is stabilized to the examining table with one of the examiner's hands, and the patient's foot is held between the examiner's legs. The examiner's free hand provides the anteriorly directed force as done in the Lachman test. A prospective study of 52 patients who were identified as unilaterally anterior cruciate ligament deficient was conducted. Forty-two subjects were tested while conscious, and 40 subjects were tested under anesthesia. Each subject was examined with a KT-1000 arthrometer. In the conscious group, the drop leg Lachman test resulted in 1.8 mm greater average excursion than the Lachman test. In the anesthetized group, the drop leg Lachman test resulted in 2.4 mm more average translation than the Lachman test. In both groups, the difference between tests was statistically significant. The drop leg Lachman test is physically easier to perform than the Lachman test, and it is a sensitive method of demonstrating anterior laxity in an anterior cruciate ligament-deficient knee.

Distribution of Boron, Lithium and Beryllium in Ocean Island Basalts from French Polynesia: Implications for the B/Be and Li/Be Ratios as Tracers of Subducted Components

Abstract: The study focuses on the distribution of B, Be, Li, rare earth elements (REE), high-field-strength elements (HFSE), Th, U and Pb in fresh and hydrothermally altered ocean island basalts (OIB) from French Polynesia, and evaluates B/Be and Li/Be ratios as potential tracers of subducted components in the mantle. Hydrothermal solutions affecting the rocks during cooling were derived from meteoric water, sea water and magmatic fluids. The concentrations of REE, HFSE, Th and Be in the OIB were not affected by secondary processes except during advanced stages of subaerial hydrothermal alteration where saponite was a dominant secondary phase. This alteration modified the contents of these elements, changed REE patterns and produced a positive Ce anomaly. The subaerial and submarine hydrothermal alteration (T ~ 70-100~ may change U concentrations in OIB, whereas Pb was only marginally redistributed during alteration. Boron was enriched during submarine and subaerial hydrothermal alteration but was not noticeably affected in basalts altered by magmatic fluids at T > 200~ Like B, the mobility of Li during the alteration varies with fluid temperature. Lithium became enriched in the basalts during advanced stages of lower T hydrothermal alteration ( 200~ by magmatic fluids. Boron, Be and Li behave as incompatible trace elements in basaltic magmas. Beryllium content in primitive mantle is estimated to be 0.07 ppm. Fresh Polynesian OIB have low abundances of B and Li and low B/Be (2-5) and Li/Be (2.5-5) ratios compared with volcanic arc rocks, marine sediments and altered oceanic crust. Various OIB including even those which have HIMU- and EMaffinities have similar overlapping B/Be and Li/Be ratios. Both B and Li are probably stripped from a lithospheric slab during subduction-related metamorphism and are, thus, not involved in deep mantle recycling. The mantle-normalized trace element abundances of MORB and OIB usually display patterns characterized by negative B, Pb and Li anomalies. The patterns of continental crust and crustal rocks have distinct positive anomalies for these elements whereas continental basaltic rocks have variable relative abundances of B, Pb and Li. The anomalies of these elements in basalts can be useful in discriminating their tectonic setting and constraining the mantle source regions of basalts.