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1.
Skeletal Radiol ; 45(10): 1443-8, 2016 Oct.
Article in English | MEDLINE | ID: mdl-27502624

ABSTRACT

Shoulder dislocations are frequently seen in the general population and can be a cause of instability. Instability can lead to debilitating symptoms and morbidity as a result of progressive damage to the shoulder. Anterior shoulder dislocations are the most frequent type of dislocations and have been studied extensively with MRI. The soft tissue Bankart lesion is the most well-known entity associated with anterior instability; however, additional structural lesions arising from traumatic events have been described in recent literature which also predispose to anterior shoulder instability. One of these lesions, the glenoid avulsion of the glenohumeral ligament (GAGL), involves avulsion of the inferior glenohumeral ligament from the glenoid and involves separation from an intact labrum. In contrast to the Bankart lesion, there has been limited discussion of the GAGL lesion in the literature and very few imaging examples. We report a case of a GAGL diagnosed on MRI and confirmed with arthroscopy. It is discussed in the context of the anatomy of the inferior glenohumeral ligament and the imaging findings.


Subject(s)
Ligaments, Articular/diagnostic imaging , Ligaments, Articular/injuries , Shoulder Dislocation/diagnostic imaging , Shoulder Injuries , Shoulder Joint/diagnostic imaging , Wrestling/injuries , Adolescent , Diagnosis, Differential , Humans , Male
2.
J AAPOS ; 13(2): 215-7, 2009 Apr.
Article in English | MEDLINE | ID: mdl-19393523

ABSTRACT

Juvenile retinoschisis is a rare retinal dystrophy caused by RS1 gene mutations.(1) Clinical examinations and molecular testing definitively diagnosed juvenile retinoschisis in 2 male infants, one of whom had a novel mutation not previously reported in the United States. Genetic testing may be the simplest way to confirm this diagnosis in infants.


Subject(s)
Eye Proteins/genetics , Mutation, Missense , Retinoschisis/genetics , Retinoschisis/pathology , Humans , Infant , Macula Lutea/pathology , Male , Tomography, Optical Coherence , Wisconsin
3.
Genomics ; 88(1): 44-51, 2006 Jul.
Article in English | MEDLINE | ID: mdl-16595169

ABSTRACT

Lens opacity 11 (lop11) is an autosomal recessive mouse cataract mutation that arose spontaneously in the RIIIS/J strain. At 3 weeks of age mice exhibit total cataracts with vacuoles. The lop11 locus was mapped to mouse chromosome 8. Analysis of the mouse genome for the lop11 critical region identified Hsf4 as a candidate gene. Molecular evaluation of Hsf4 revealed an early transposable element (ETn) in intron 9 inserted 61 bp upstream of the intron/exon junction. The same mutation was also identified in a previously mapped cataract mutant, ldis1. The ETn insertion altered splicing and expression of the Hsf4 gene, resulting in the truncated Hsf4 protein. In humans, mutations in HSF4 have been associated with both autosomal dominant and recessive cataracts. The lop11 mouse is an excellent resource for evaluating the role of Hsf4 in transparency of the lens.


Subject(s)
Cataract/genetics , DNA Transposable Elements/genetics , DNA-Binding Proteins/genetics , Eye Diseases, Hereditary/genetics , Eye Proteins/genetics , Introns , Transcription Factors/genetics , Animals , Base Sequence , Cataract/physiopathology , DNA-Binding Proteins/physiology , Disease Models, Animal , Eye Diseases, Hereditary/physiopathology , Eye Proteins/physiology , Genes, Recessive , Heat Shock Transcription Factors , Mice , Mice, Inbred Strains , Molecular Sequence Data , Transcription Factors/physiology
4.
Am J Physiol Heart Circ Physiol ; 291(1): H274-82, 2006 Jul.
Article in English | MEDLINE | ID: mdl-16473958

ABSTRACT

The present study was designed to determine the production of nicotinic acid adenine dinucleotide phosphate (NAADP) and its role associated with lysosomes in mediating endothelin-1 (ET-1)-induced vasoconstriction in coronary arteries. HPLC assay showed that NAADP was produced in coronary arterial smooth muscle cells (CASMCs) via endogenous ADP-ribosyl cyclase. Fluorescence microscopic analysis of intracellular Ca2+ concentration ([Ca2+]i) in CASMCs revealed that exogenous 100 nM NAADP increased [Ca2+]i by 711 +/- 47 nM. Lipid bilayer experiments, however, demonstrated that NAADP did not directly activate ryanodine (Rya) receptor Ca2+ release channels on the sarcoplasmic reticulum. In CASMCs pretreated with 100 nM bafilomycin A1 (Baf), an inhibitor of lysosomal Ca2+ release and vacuolar proton pump function, NAADP-induced [Ca2+]i increase was significantly abolished. Moreover, ET-1 significantly increased NAADP formation in CASMCs and resulted in the rise of [Ca2+]i in these cells with a large increase in global Ca2+ level of 1,815 +/- 84 nM. Interestingly, before this large Ca2+ increase, a small Ca2+ spike with an increase in [Ca2+]i of 529 +/- 32 nM was observed. In the presence of Baf (100 nM), this ET-1-induced two-phase [Ca2+]i response was completely abolished, whereas Rya (50 microM) only markedly blocked the ET-1-induced large global Ca2+ increase. Functional studies showed that 100 nM Baf significantly attenuated ET-1-induced maximal constriction from 82.26 +/- 4.42% to 51.80 +/- 4.36%. Our results suggest that a lysosome-mediated Ca2+ regulatory mechanism via NAADP contributes to ET-1-induced Ca2+ mobilization in CASMCs and consequent vasoconstriction of coronary arteries.


Subject(s)
Calcium Signaling/physiology , Calcium/metabolism , Coronary Vessels/metabolism , Endothelin-1/administration & dosage , Lysosomes/metabolism , Myocytes, Cardiac/physiology , NADP/analogs & derivatives , Animals , Cattle , Cells, Cultured , Coronary Vessels/cytology , Coronary Vessels/drug effects , Dose-Response Relationship, Drug , Lysosomes/drug effects , Myocytes, Cardiac/drug effects , NADP/biosynthesis
5.
Am J Physiol Heart Circ Physiol ; 290(3): H1172-81, 2006 Mar.
Article in English | MEDLINE | ID: mdl-16243917

ABSTRACT

The present study tested the hypothesis that cyclic ADP ribose (cADPR) serves as a novel second messenger to mediate intracellular Ca2+ mobilization in coronary arterial endothelial cells (CAECs) and thereby contributes to endothelium-dependent vasodilation. In isolated and perfused small bovine coronary arteries, bradykinin (BK)-induced concentration-dependent vasodilation was significantly attenuated by 8-bromo-cADPR (a cell-permeable cADPR antagonist), ryanodine (an antagonist of ryanodine receptors), or nicotinamide (an ADP-ribosyl cyclase inhibitor). By in situ simultaneously fluorescent monitoring, Ca2+ transient and nitric oxide (NO) levels in the intact coronary arterial endothelium preparation, 8-bromo-cADPR (30 microM), ryanodine (50 microM), and nicotinamide (6 mM) substantially attenuated BK (1 microM)-induced increase in intracellular [Ca2+] by 78%, 80%, and 74%, respectively, whereas these compounds significantly blocked BK-induced NO increase by about 80%, and inositol 1,4,5-trisphosphate receptor blockade with 2-aminethoxydiphenyl borate (50 microM) only blunted BK-induced Ca2+-NO signaling by about 30%. With the use of cADPR-cycling assay, it was found that inhibition of ADP-ribosyl cyclase by nicotinamide substantially blocked BK-induced intracellular cADPR production. Furthermore, HPLC analysis showed that the conversion rate of beta-nicotinamide guanine dinucleotide into cyclic GDP ribose dramatically increased by stimulation with BK, which was blockable by nicotinamide. However, U-73122, a phospholipase C inhibitor, had no effect on this BK-induced increase in ADP-ribosyl cyclase activity for cADPR production. In conclusion, these results suggest that cADPR importantly contributes to BK- and A-23187-induced NO production and vasodilator response in coronary arteries through its Ca2+ signaling mechanism in CAECs.


Subject(s)
Calcium Signaling/physiology , Calcium/metabolism , Coronary Vessels/physiology , Cyclic ADP-Ribose/metabolism , Endothelial Cells/physiology , Endothelium, Vascular/physiology , Nitric Oxide/metabolism , Animals , Cattle , Cells, Cultured , In Vitro Techniques , Signal Transduction/physiology
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