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1.
Anesth Prog ; 69(4): 26-31, 2022 12 01.
Article in English | MEDLINE | ID: mdl-36534775

ABSTRACT

Myotonic dystrophy (dystrophia myotonica; DM) is an uncommon progressive hereditary muscle disorder that can present with variable severity at birth, in early childhood, or most commonly as an adult. Patients with DM, especially type 1 (DM1), are extremely sensitive to the respiratory depressant effects of sedative-hypnotics, anxiolytics, and opioid agonists. This case report describes a 37-year-old male patient with previously undiagnosed DM1 who received dental care under minimal sedation using intravenous midazolam. During the case, the patient experienced 2 brief episodes of hypoxemia, the second of which required emergency intubation after propofol and succinylcholine and resulted in extended hospital admission. A lipid emulsion (Liposyn II 20%) infusion was given approximately 2 hours after the last local anesthetic injection due to slight ST elevation and suspicion of local anesthetic toxicity (LAST). Months after treatment, the patient suffered a fall resulting in a fatal traumatic brain injury. Complications noted in this case report were primarily attributed to the unknown diagnosis of DM1, although additional precipitating factors were likely present. This report also provides a basic review of the literature and clinical guidelines for managing myotonic dystrophy patients for dental care with local anesthesia, sedation, or general anesthesia.


Subject(s)
Myotonic Dystrophy , Propofol , Adult , Male , Infant, Newborn , Humans , Child, Preschool , Myotonic Dystrophy/complications , Myotonic Dystrophy/diagnosis , Myotonic Dystrophy/therapy , Anesthetics, Local , Hypnotics and Sedatives , Anesthesia, Local
2.
G3 (Bethesda) ; 9(10): 3453-3465, 2019 10 07.
Article in English | MEDLINE | ID: mdl-31444295

ABSTRACT

The Neurospora crassa nuclear aod-1 gene encodes an alternative oxidase that functions in mitochondria. The enzyme provides a branch from the standard electron transport chain by transferring electrons directly from ubiquinol to oxygen. In standard laboratory strains, aod-1 is transcribed at very low levels under normal growth conditions. However, if the standard electron transport chain is disrupted, aod-1 mRNA expression is induced and the AOD1 protein is produced. We previously identified a strain of N. crassa, that produces high levels of aod-1 transcript under non-inducing conditions. Here we have crossed this strain to a standard lab strain and determined the genomic sequences of the parents and several progeny. Analysis of the sequence data and the levels of aod-1 mRNA in uninduced cultures revealed that a frameshift mutation in the flbA gene results in the high uninduced expression of aod-1 The flbA gene encodes a regulator of G protein signaling that decreases the activity of the Gα subunit of heterotrimeric G proteins. Our data suggest that strains with a functional flbA gene prevent uninduced expression of aod-1 by inactivating a G protein signaling pathway, and that this pathway is activated in cells grown under conditions that induce aod-1 Induced cells with a deletion of the gene encoding the Gα protein still have a partial increase in aod-1 mRNA levels, suggesting a second pathway for inducing transcription of the gene in N. crassa We also present evidence that a translational control mechanism prevents production of AOD1 protein in uninduced cultures.


Subject(s)
GTP-Binding Proteins/genetics , Gene Expression Regulation, Fungal , Mitochondrial Proteins/biosynthesis , Neurospora crassa/genetics , Neurospora crassa/metabolism , Oxidoreductases/biosynthesis , Plant Proteins/biosynthesis , Mutation , RNA, Messenger/genetics , RNA, Messenger/metabolism
4.
Int Orthod ; 16(4): 712-732, 2018 12.
Article in English | MEDLINE | ID: mdl-30343067

ABSTRACT

INTRODUCTION: To identify changes in the adolescent mandibular canal (MC) using cone-beam computer tomography (CBCT) by locating three-dimensional (3D) anatomical landmarks in the mandible for later growth and treatment applications. METHODS: Two CBCT images taken 1.5-2 years apart for 50 patients (ages 11-17) were landmarked using AVIZO®. Six core landmarks were placed relative to the right and left MCs. Three-dimensional coordinates (x, y, z) were obtained. Average distances between paired landmarks were measured using a paired samples t-test. Mean distance differences <1.50mm were determined clinically insignificant and stable. To determine landmark position consistency, repeat CBCTs from 11 patients were landmarked three times one week apart. Coordinates were determined and intra-class correlation coefficient statistics (ICC), mean error difference and confidence intervals were measured. RESULTS: X and y-coordinates had an internal consistency of 1.00. Z-coordinates had a consistency of 0.995 or higher. Measurement error was <1mm. The largest mean distance change was 2.25mm±3.06mm between the right mandibular foramen and the landmark directly on the right canal, closest to the mesial root of the first molar. The smallest mean distance change was <0.01mm±1.7mm between the right and left mental foramina. Additionally, the bilateral mandibular foramina, bilateral distal and mesial roots of the first molar, and bilateral regions on the MC inferior to both distal and mesial roots of the first molar were stable. CONCLUSION: All landmarks were determined reliable. The region between the right and left mental foramina was found most stable for this time period in adolescents.


Subject(s)
Cone-Beam Computed Tomography , Imaging, Three-Dimensional , Mandible/anatomy & histology , Adolescent , Analysis of Variance , Child , Dentition, Permanent , Female , Humans , Male , Mandible/diagnostic imaging , Mandible/growth & development
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