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40
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Text
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URL Address
<a href="http://doi.org/10.1097/00000478-199809000-00014" target="_blank" rel="noreferrer">http://doi.org/10.1097/00000478-199809000-00014</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
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Mitochondrial neurogastrointestinal encephalomyopathy: diagnosis by rectal biopsy
Publisher
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The American Journal Of Surgical Pathology
Date
A point or period of time associated with an event in the lifecycle of the resource
1998
Subject
The topic of the resource
Female; Humans; adolescent; Q3 Literature Search; Electron; Microscopy; Muscles/pathology; DNA; Biopsy/methods; Intestinal Pseudo-Obstruction/pathology; Mitochondrial Myopathies/pathology; Mitochondrial/analysis; Rectum/innervation/pathology
Creator
An entity primarily responsible for making the resource
Perez-Atayde AR; Fox V; Teitelbaum JE; Anthony DA; Fadic R; Kalsner L; Rivkin M; Johns DR; Cox GF
Description
An account of the resource
A 14-year-old girl with the mitochondrial neurogastrointestinal encephalopathy syndrome had an 8-year history of intestinal pseudoobstruction with abdominal pain, persistent vomiting, gastric and duodenal dilatation, and duodenal diverticulosis. The child appeared chronically malnourished and had severe growth failure. Multisystem involvement was evident with the presence of ptosis, external ophthalmoplegia, muscle wasting, peripheral neuropathy, and diffuse white matter disease seen on magnetic resonance imaging. Lactic acidosis and increased cerebrospinal fluid protein were observed. Mitochondrial enzyme analysis of fresh-frozen skeletal muscle revealed a respiratory chain defect. Molecular genetic studies showed multiple mitochondrial DNA deletions. Pathologic findings in the intestine included atrophy of the external layer of the muscularis propria and an increased number of abnormal-appearing mitochondria in ganglion and smooth-muscle cells. Microvesicular steatosis was observed in liver, skeletal, and gastrointestinal smooth muscle, and Schwann cells of peripheral nerve. Brightly eosinophilic inclusions in the cytoplasm of gastrointestinal ganglion cells were visible by light microscopy, which were confirmed to be megamitochondria by ultrastructural studies. This is the first report of abnormal mitochondria observed in intestinal ganglion and smooth-muscle cells in this syndrome.
1998
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1097/00000478-199809000-00014" target="_blank" rel="noreferrer">10.1097/00000478-199809000-00014</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
1998
Adolescent
Anthony DA
Backlog
Biopsy/methods
Cox GF
DNA
Electron
Fadic R
Female
Fox V
Humans
Intestinal Pseudo-Obstruction/pathology
Johns DR
Journal Article
Kalsner L
Microscopy
Mitochondrial Myopathies/pathology
Mitochondrial/analysis
Muscles/pathology
Perez-Atayde AR
Q3 Scoping Review Results
Rectum/innervation/pathology
Rivkin M
Teitelbaum JE
The American Journal Of Surgical Pathology
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1002/ana.410340107" target="_blank" rel="noreferrer">http://doi.org/10.1002/ana.410340107</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes (MELAS): clinical, radiological, pathological, and genetic observations
Publisher
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Annals Of Neurology
Date
A point or period of time associated with an event in the lifecycle of the resource
1993
Subject
The topic of the resource
Child; Female; Humans; Male; Molecular Sequence Data; Preschool; infant; Q3 Literature Search; Tomography; X-Ray Computed; Base Sequence; Capillaries/pathology; DNA/analysis; Electron; MELAS Syndrome/genetics/pathology/radiography; Microscopy; Mitochondria/pathology; Muscles/pathology
Creator
An entity primarily responsible for making the resource
Koo B; Becker LE; Chuang S; Merante F; Robinson BH; MacGregor D; Tein I; Ho VB; McGreal DA; Wherrett JR
Description
An account of the resource
We reviewed 10 patients (5 males, 5 females) with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. The age of symptom onset ranged from 3 months to 12 years. All had lactic acidosis, multiple stroke-like events with secondary neurological deficits, radiological changes of progressive brain infarction, and muscle biopsy showing ragged-red fibers. In patients with earlier onset of symptoms (< 2 yr), involvement tended to be more diffuse, with failure to thrive and early onset of delayed development. Patients whose symptoms appeared later tended to have focal neurological deficits with migraine-like headache, and a rate of cognitive regression reflecting the rapidity of disease progression. Radiological changes included multiple areas of infarction with initial predilection for parietal occipital areas, progressing to generalized atrophy. Pathological findings in muscle biopsies included type 1 fiber predominance, ragged-red fibers, increased intermyofibrillar lipid deposition, and abnormal mitochondria. Four patients showed mitochondrial DNA tRNA mutation at position 3,243. No difference was noted in clinical, radiological, or pathological findings in patients with and without this mutation, suggesting that multiple sites of point mutation may give rise to mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes.
1993
Identifier
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<a href="http://doi.org/10.1002/ana.410340107" target="_blank" rel="noreferrer">10.1002/ana.410340107</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
1993
Annals Of Neurology
Backlog
Base Sequence
Becker LE
Capillaries/pathology
Child
Chuang S
DNA/analysis
Electron
Female
Ho VB
Humans
Infant
Journal Article
Koo B
MacGregor D
Male
McGreal DA
MELAS Syndrome/genetics/pathology/radiography
Merante F
Microscopy
Mitochondria/pathology
Molecular Sequence Data
Muscles/pathology
Preschool
Q3 Scoping Review Results
Robinson BH
Tein I
Tomography
Wherrett JR
X-Ray Computed