Ornithine Transcarbamylase Deficiency: If at First You Do Not Diagnose, Try and Try Again

Ornithine transcarbamylase (OTC) deficiency is well known for its diagnosis in the neonatal period. Presentation often occurs after protein feeding and manifests as poor oral intake, vomiting, lethargy progressing to seizure, respiratory difficulty, and eventually coma. Presentation at adulthood is rare (and likely underdiagnosed); however, OTC deficiency can be life-threatening and requires prompt investigation and treatment. Reports and guidelines are scarce due to its rarity. Here, we present a 59-year-old woman with a past history of irritable bowel syndrome who underwent a reparative operation for rectal prolapse and enterocele. Her postoperative course was complicated by a bowel perforation (which was repaired), prolonged mechanical ventilation, tracheostomy, critical illness myopathy, protein-caloric malnutrition, and altered mental status. After standard therapy for delirium failed, further investigation showed hyperammonemia and increased urine orotic acid, ultimately leading to the diagnosis of OTC deficiency. This case highlights the importance of considering OTC deficiency in hospitalized adults, especially during the diagnostic evaluation for altered mental status

Detection of Panulirus Argus Virus 1 (PaV1) in the Caribbean Spiny Lobster Using Fluorescence in situ Hybridization (FISH)

Panulirus argus Virus 1 (PaV1) is the first virus known to be pathogenic to a wild lobster. It infects the Caribbean spiny lobster P. argus from the Florida Keys, and has a predilection for juveniles. The monitoring of the virus in wild populations and study of its behavior in the laboratory require the development of reliable diagnostic tools. A sensitive and specific fluorescence in situ hybridization (FISH) assay was developed for detection of PaV1. The lower detection limit using a 110 bp DNA probe in a dot-blot hybridization for PaV1 DNA was 10 pg of cloned template PaV1 DNA and 10 ng of genomic DNA extracted from the hemolymph of diseased spiny lobster. The fluorescein (FITC)-labeled probe specifically hybridized to PaV1-infected cells in the hepatopancreas, hindgut, gills, heart, foregut, and nerve tissues. FITC staining was observed around the inner periphery of the nuclear membrane, with lighter staining in a more dispersed pattern within the nucleus. The probe did not hybridize with host tissues of uninfected spiny lobsters, nor did it cross-react with 4 other virus samples tested. This assay will facilitate our understanding of the pathogenesis of the viral disease and help in monitoring efforts directed at determining the prevalence of PaV1 in juvenile nurseries for this lobster

Detection of Panulirus argus Virus 1 (PaV1) in the Caribbean spiny lobster using fluorescence in situ hybridization (FISH)

Panulirus argus Virus 1 (PaV1) is the first virus known to be pathogenic to a wild lobster. It infects the Caribbean spiny lobster P. argus from the Florida Keys, and has a predilection for juveniles. The monitoring of the virus in wild populations and study of its behavior in the laboratory require the development of reliable diagnostic tools. A sensitive and specific fluorescence in situ hybridization (FISH) assay was developed for detection of PaV1. The lower detection limit using a 110 bp DNA probe in a dot-blot hybridization for PaV1 DNA was 10 pg of cloned template PaV1 DNA and 10 ng of genomic DNA extracted from the hemolymph of diseased spiny lobster. The fluorescein (FITC)-labeled probe specifically hybridized to PaV1-infected cells in the hepatopancreas, hindgut, gills, heart, foregut, and nerve tissues. FITC staining was observed around the inner periphery of the nuclear membrane, with lighter staining in a more dispersed pattern within the nucleus. The probe did not hybridize with host tissues of uninfected spiny lobsters, nor did it cross-react with 4 other virus samples tested. This assay will facilitate our understanding of the pathogenesis of the viral disease and help in monitoring efforts directed at determining the prevalence of PaV1 in juvenile nurseries for this lobster

In vitro comparison of transfixation and standard full-limb casts for prevention of displacement of a mid-diaphyseal third metacarpal osteotomy site in horses

Objective—–To compare transfixation and standard full-limb casts for prevention of in vitro displacement of a mid-diaphyseal third metacarpal osteotomy site in horses. Sample Population—6 forelimbs from 6 horses euthanatized for reasons not related to the musculoskeletal system. Procedure—A 30° osteotomy was performed in the mid-diaphysis of the third metacarpal bone. Two 4.5-mm cortical bone screws were placed across the osteotomy site to maintain alignment during casting. Two 6.35-mm Steinmann pins were placed from a lateral-to-medial direction in the distal aspect of the radius. A full-limb cast that incorporated the pins was applied. An extensometer was positioned in the osteotomy site through a window placed in the dorsal aspect of the cast, and after removal of the screws, displacement was recorded while the limb was axially loaded to 5,340 N (1,200 lb). Pins were removed, and the standard full-limb cast was tested in a similar fashion. Results—The transfixation cast significantly reduced displacement across the osteotomy site at 445 N (100 lb), 1,112 N (250 lb), 2,224 N (500 lb), and 4,448 N (1,000 lb), compared with the standard cast. Conclusion and Clinical Relevance—A full-limb transfixation cast provides significantly greater resistance than a standard full-limb cast against axial collapse of a mid-diaphyseal third metacarpal osteotomy site when the bone is placed under axial compression. Placement of full-limb transfixation casts should be considered for the management of unstable fractures of the third metacarpal bone in horses

Ornithine Transcarbamylase Deficiency: If at First You Do Not Diagnose, Try and Try Again

Ornithine transcarbamylase (OTC) deficiency is well known for its diagnosis in the neonatal period. Presentation often occurs after protein feeding and manifests as poor oral intake, vomiting, lethargy progressing to seizure, respiratory difficulty, and eventually coma. Presentation at adulthood is rare (and likely underdiagnosed); however, OTC deficiency can be life-threatening and requires prompt investigation and treatment. Reports and guidelines are scarce due to its rarity. Here, we present a 59-year-old woman with a past history of irritable bowel syndrome who underwent a reparative operation for rectal prolapse and enterocele. Her postoperative course was complicated by a bowel perforation (which was repaired), prolonged mechanical ventilation, tracheostomy, critical illness myopathy, protein-caloric malnutrition, and altered mental status. After standard therapy for delirium failed, further investigation showed hyperammonemia and increased urine orotic acid, ultimately leading to the diagnosis of OTC deficiency. This case highlights the importance of considering OTC deficiency in hospitalized adults, especially during the diagnostic evaluation for altered mental status

A 3-Dimensional Printed Ultrasound Probe Visuospatial Trainer

Training adult learners to use ultrasound in clinical practice relies on the ability of the learner to apply visuospatial concepts to the anatomy of the human body. We describe a visuospatial trainer that replicates the housing of an ultrasound transducer, through which a linear laser projects light in the same plane and orientation as the ultrasonic sound waves. We use this trainer in combination with a porcine heart dissection laboratory to teach bedside cardiac ultrasound and transthoracic echocardiography (TTE). Off-the-shelf components, including an on/off switch, a laser, and 2 ampere batteries are connected in series and placed inside the 3-dimensional (3D)-printed housing. The trainer\u27s laser emission projects a red line that visually represents the ultrasound\u27s field. Learners project the laser against a porcine or human heart in the orientation of the TTE window they wish to obtain and then dissect the heart in that plane, allowing for visualization of how grayscale images are obtained from 3D structures. Previous research has demonstrated that visuospatial aptitude is correlated with ultrasound procedural performance. We present this trainer and educational method as a specific training intervention that could enhance the visuospatial ability of the ultrasound learner. This visuospatial trainer and educational method present a novel process for enhancing learner understanding of 2-dimensional ultrasound images as they relate to 3D structures. Having a clear understanding of how images are generated in cross section may translate into more proficient adaptation of cardiac ultrasound and TTE