Articolul precedent |
Articolul urmator |
352 4 |
Ultima descărcare din IBN: 2024-03-11 21:20 |
Căutarea după subiecte similare conform CZU |
616.831-005.4-053.2 (4) |
Neurologie. Neuropatologie. Sistem nervos (971) |
SM ISO690:2012 HADJIU, Svetlana, CĂLCÎI, Cornelia, LUPUŞOR, Nadejda, FEGHIU, Ludmila, GRÎU, Corina, CUZNEȚ, Ludmila, RACOVIȚĂ, Stela, TIHAI, Olga, SPRINCEAN, Mariana, REVENCO, Ninel. Particularități clinico-diagnostice ale encefalopatiilor mitocondriale. In: Managementul interdisciplinar al copilului, Ed. Ediţia a 5-a, 13 mai 2022, Chişinău. Chişinău: Tipografia Taicom, 2022, Ediţia a 5-a, pp. 66-74. ISBN 978-9975-58-274-2. |
EXPORT metadate: Google Scholar Crossref CERIF DataCite Dublin Core |
Managementul interdisciplinar al copilului Ediţia a 5-a, 2022 |
||||||
Conferința "Managementul interdisciplinar al copilului" Ediţia a 5-a, Chişinău, Moldova, 13 mai 2022 | ||||||
|
||||||
CZU: 616.831-005.4-053.2 | ||||||
Pag. 66-74 | ||||||
|
||||||
Descarcă PDF | ||||||
Rezumat | ||||||
Encefalopatia mitocondrială cu acidoză lactică și episoade asemănătoare accidentului vascular cerebral (sindromul MELAS) este o boală care afectează în principal sistemul nervos și mușchii. Modalitățile de diagnostic ale bolilor mitocondriale la copii sunt dificile. La copiii cu multiple episoade de accident vascular cerebral, în teritorii vascula-re diferite, precum și modificări radioimagistice caracteristice, crize convulsive, deficit motor, hipostatură, afecțiuni gastrointestinale, cardiace, oftalmologice, trebuie inițiate testele de laborator în vederea unor sindroame de deficit al mitocondriilor, în special sindromul MELAS. Prezența fibrelor roșii în mușchiul scheletic și determinările biochimice caracteristice defectelor mitocondriale susțin diagnosticul. Testele genetice moleculare privind modificările ADN-ului mitocondrial vor confirma diagnosticul. Trebuie acordat sfatul genetic atunci când există certitudinea unor mutații în ADN-ul mitocondrial. |
||||||
Cuvinte-cheie erori înnăscute de metabolism, encefalopatii mitocondriale, boli mitocondriale, mitocondrii, inborn errors of metabolism, mitochondrial encephalopathy, mitochondrial disease, mitochondria |
||||||
|
Cerif XML Export
<?xml version='1.0' encoding='utf-8'?> <CERIF xmlns='urn:xmlns:org:eurocris:cerif-1.5-1' xsi:schemaLocation='urn:xmlns:org:eurocris:cerif-1.5-1 http://www.eurocris.org/Uploads/Web%20pages/CERIF-1.5/CERIF_1.5_1.xsd' xmlns:xsi='http://www.w3.org/2001/XMLSchema-instance' release='1.5' date='2012-10-07' sourceDatabase='Output Profile'> <cfResPubl> <cfResPublId>ibn-ResPubl-171658</cfResPublId> <cfResPublDate>2022</cfResPublDate> <cfVol>Ediţia a 5-a</cfVol> <cfStartPage>66</cfStartPage> <cfISBN>978-9975-58-274-2</cfISBN> <cfURI>https://ibn.idsi.md/ro/vizualizare_articol/171658</cfURI> <cfTitle cfLangCode='RO' cfTrans='o'>Particularități clinico-diagnostice ale encefalopatiilor mitocondriale</cfTitle> <cfKeyw cfLangCode='RO' cfTrans='o'>erori înnăscute de metabolism; encefalopatii mitocondriale; boli mitocondriale; mitocondrii; inborn errors of metabolism; mitochondrial encephalopathy; mitochondrial disease; mitochondria</cfKeyw> <cfAbstr cfLangCode='RO' cfTrans='o'><p>Encefalopatia mitocondrială cu acidoză lactică și episoade asemănătoare accidentului vascular cerebral (sindromul MELAS) este o boală care afectează în principal sistemul nervos și mușchii. Modalitățile de diagnostic ale bolilor mitocondriale la copii sunt dificile. La copiii cu multiple episoade de accident vascular cerebral, în teritorii vascula-re diferite, precum și modificări radioimagistice caracteristice, crize convulsive, deficit motor, hipostatură, afecțiuni gastrointestinale, cardiace, oftalmologice, trebuie inițiate testele de laborator în vederea unor sindroame de deficit al mitocondriilor, în special sindromul MELAS. Prezența fibrelor roșii în mușchiul scheletic și determinările biochimice caracteristice defectelor mitocondriale susțin diagnosticul. Testele genetice moleculare privind modificările ADN-ului mitocondrial vor confirma diagnosticul. Trebuie acordat sfatul genetic atunci când există certitudinea unor mutații în ADN-ul mitocondrial.</p></cfAbstr> <cfAbstr cfLangCode='EN' cfTrans='o'><p>Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes is a mitochondrial disease primarily af-fecting the nervous system and muscles (syndrome MELAS). How to diagnose mitochondrial disease in children is difficult. It was noted that in children with multiple stroke – like episodes and neuroimaging changes, seizures, mo-tor deficit, short stature, gastrointestinal, cardiac and ophthalmic disorders, laboratory testing should be initiated to recognize mitochondrial deficiency syndromes, particularly MELAS syndrome. The presence of red fibers in skeletal muscles and characteristic biochemical changes of mitochondrial defects support the diagnosis. Molecular genetic tests on mitochondrial DNA modifications will confirm the diagnosis. Genetic counseling should be given when there are mutations in mitochondrial DNA.</p></cfAbstr> <cfResPubl_Class> <cfClassId>eda2d9e9-34c5-11e1-b86c-0800200c9a66</cfClassId> <cfClassSchemeId>759af938-34ae-11e1-b86c-0800200c9a66</cfClassSchemeId> <cfStartDate>2022T24:00:00</cfStartDate> </cfResPubl_Class> <cfResPubl_Class> <cfClassId>e601872f-4b7e-4d88-929f-7df027b226c9</cfClassId> <cfClassSchemeId>40e90e2f-446d-460a-98e5-5dce57550c48</cfClassSchemeId> <cfStartDate>2022T24:00:00</cfStartDate> </cfResPubl_Class> <cfPers_ResPubl> <cfPersId>ibn-person-11167</cfPersId> <cfClassId>49815870-1cfe-11e1-8bc2-0800200c9a66</cfClassId> <cfClassSchemeId>b7135ad0-1d00-11e1-8bc2-0800200c9a66</cfClassSchemeId> <cfStartDate>2022T24:00:00</cfStartDate> </cfPers_ResPubl> <cfPers_ResPubl> <cfPersId>ibn-person-29257</cfPersId> <cfClassId>49815870-1cfe-11e1-8bc2-0800200c9a66</cfClassId> <cfClassSchemeId>b7135ad0-1d00-11e1-8bc2-0800200c9a66</cfClassSchemeId> <cfStartDate>2022T24:00:00</cfStartDate> </cfPers_ResPubl> <cfPers_ResPubl> <cfPersId>ibn-person-29914</cfPersId> <cfClassId>49815870-1cfe-11e1-8bc2-0800200c9a66</cfClassId> <cfClassSchemeId>b7135ad0-1d00-11e1-8bc2-0800200c9a66</cfClassSchemeId> <cfStartDate>2022T24:00:00</cfStartDate> </cfPers_ResPubl> <cfPers_ResPubl> <cfPersId>ibn-person-57696</cfPersId> <cfClassId>49815870-1cfe-11e1-8bc2-0800200c9a66</cfClassId> <cfClassSchemeId>b7135ad0-1d00-11e1-8bc2-0800200c9a66</cfClassSchemeId> <cfStartDate>2022T24:00:00</cfStartDate> </cfPers_ResPubl> <cfPers_ResPubl> <cfPersId>ibn-person-57697</cfPersId> <cfClassId>49815870-1cfe-11e1-8bc2-0800200c9a66</cfClassId> <cfClassSchemeId>b7135ad0-1d00-11e1-8bc2-0800200c9a66</cfClassSchemeId> <cfStartDate>2022T24:00:00</cfStartDate> </cfPers_ResPubl> <cfPers_ResPubl> <cfPersId>ibn-person-82593</cfPersId> <cfClassId>49815870-1cfe-11e1-8bc2-0800200c9a66</cfClassId> <cfClassSchemeId>b7135ad0-1d00-11e1-8bc2-0800200c9a66</cfClassSchemeId> <cfStartDate>2022T24:00:00</cfStartDate> </cfPers_ResPubl> <cfPers_ResPubl> <cfPersId>ibn-person-57694</cfPersId> <cfClassId>49815870-1cfe-11e1-8bc2-0800200c9a66</cfClassId> <cfClassSchemeId>b7135ad0-1d00-11e1-8bc2-0800200c9a66</cfClassSchemeId> <cfStartDate>2022T24:00:00</cfStartDate> </cfPers_ResPubl> <cfPers_ResPubl> <cfPersId>ibn-person-57698</cfPersId> <cfClassId>49815870-1cfe-11e1-8bc2-0800200c9a66</cfClassId> <cfClassSchemeId>b7135ad0-1d00-11e1-8bc2-0800200c9a66</cfClassSchemeId> <cfStartDate>2022T24:00:00</cfStartDate> </cfPers_ResPubl> <cfPers_ResPubl> <cfPersId>ibn-person-12053</cfPersId> <cfClassId>49815870-1cfe-11e1-8bc2-0800200c9a66</cfClassId> <cfClassSchemeId>b7135ad0-1d00-11e1-8bc2-0800200c9a66</cfClassSchemeId> <cfStartDate>2022T24:00:00</cfStartDate> </cfPers_ResPubl> <cfPers_ResPubl> <cfPersId>ibn-person-11770</cfPersId> <cfClassId>49815870-1cfe-11e1-8bc2-0800200c9a66</cfClassId> <cfClassSchemeId>b7135ad0-1d00-11e1-8bc2-0800200c9a66</cfClassSchemeId> <cfStartDate>2022T24:00:00</cfStartDate> </cfPers_ResPubl> </cfResPubl> <cfPers> <cfPersId>ibn-Pers-11167</cfPersId> <cfPersName_Pers> <cfPersNameId>ibn-PersName-11167-2</cfPersNameId> <cfClassId>55f90543-d631-42eb-8d47-d8d9266cbb26</cfClassId> <cfClassSchemeId>7375609d-cfa6-45ce-a803-75de69abe21f</cfClassSchemeId> <cfStartDate>2022T24:00:00</cfStartDate> <cfFamilyNames>Hadjiu</cfFamilyNames> <cfFirstNames>Svetlana</cfFirstNames> </cfPersName_Pers> </cfPers> <cfPers> <cfPersId>ibn-Pers-29257</cfPersId> <cfPersName_Pers> <cfPersNameId>ibn-PersName-29257-2</cfPersNameId> <cfClassId>55f90543-d631-42eb-8d47-d8d9266cbb26</cfClassId> <cfClassSchemeId>7375609d-cfa6-45ce-a803-75de69abe21f</cfClassSchemeId> <cfStartDate>2022T24:00:00</cfStartDate> <cfFamilyNames>Călcîi</cfFamilyNames> <cfFirstNames>Cornelia</cfFirstNames> </cfPersName_Pers> </cfPers> <cfPers> <cfPersId>ibn-Pers-29914</cfPersId> <cfPersName_Pers> <cfPersNameId>ibn-PersName-29914-2</cfPersNameId> <cfClassId>55f90543-d631-42eb-8d47-d8d9266cbb26</cfClassId> <cfClassSchemeId>7375609d-cfa6-45ce-a803-75de69abe21f</cfClassSchemeId> <cfStartDate>2022T24:00:00</cfStartDate> <cfFamilyNames>Lupuşor</cfFamilyNames> <cfFirstNames>Nadejda</cfFirstNames> </cfPersName_Pers> </cfPers> <cfPers> <cfPersId>ibn-Pers-57696</cfPersId> <cfPersName_Pers> <cfPersNameId>ibn-PersName-57696-2</cfPersNameId> <cfClassId>55f90543-d631-42eb-8d47-d8d9266cbb26</cfClassId> <cfClassSchemeId>7375609d-cfa6-45ce-a803-75de69abe21f</cfClassSchemeId> <cfStartDate>2022T24:00:00</cfStartDate> <cfFamilyNames>Feghiu</cfFamilyNames> <cfFirstNames>Ludmila</cfFirstNames> </cfPersName_Pers> </cfPers> <cfPers> <cfPersId>ibn-Pers-57697</cfPersId> <cfPersName_Pers> <cfPersNameId>ibn-PersName-57697-2</cfPersNameId> <cfClassId>55f90543-d631-42eb-8d47-d8d9266cbb26</cfClassId> <cfClassSchemeId>7375609d-cfa6-45ce-a803-75de69abe21f</cfClassSchemeId> <cfStartDate>2022T24:00:00</cfStartDate> <cfFamilyNames>Грыу</cfFamilyNames> <cfFirstNames>К.</cfFirstNames> </cfPersName_Pers> </cfPers> <cfPers> <cfPersId>ibn-Pers-82593</cfPersId> <cfPersName_Pers> <cfPersNameId>ibn-PersName-82593-2</cfPersNameId> <cfClassId>55f90543-d631-42eb-8d47-d8d9266cbb26</cfClassId> <cfClassSchemeId>7375609d-cfa6-45ce-a803-75de69abe21f</cfClassSchemeId> <cfStartDate>2022T24:00:00</cfStartDate> <cfFamilyNames>Cuznetz</cfFamilyNames> <cfFirstNames>Ludmila</cfFirstNames> </cfPersName_Pers> </cfPers> <cfPers> <cfPersId>ibn-Pers-57694</cfPersId> <cfPersName_Pers> <cfPersNameId>ibn-PersName-57694-2</cfPersNameId> <cfClassId>55f90543-d631-42eb-8d47-d8d9266cbb26</cfClassId> <cfClassSchemeId>7375609d-cfa6-45ce-a803-75de69abe21f</cfClassSchemeId> <cfStartDate>2022T24:00:00</cfStartDate> <cfFamilyNames>Racoviță</cfFamilyNames> <cfFirstNames>Stela</cfFirstNames> </cfPersName_Pers> </cfPers> <cfPers> <cfPersId>ibn-Pers-57698</cfPersId> <cfPersName_Pers> <cfPersNameId>ibn-PersName-57698-2</cfPersNameId> <cfClassId>55f90543-d631-42eb-8d47-d8d9266cbb26</cfClassId> <cfClassSchemeId>7375609d-cfa6-45ce-a803-75de69abe21f</cfClassSchemeId> <cfStartDate>2022T24:00:00</cfStartDate> <cfFamilyNames>Tihai</cfFamilyNames> <cfFirstNames>Olga</cfFirstNames> </cfPersName_Pers> </cfPers> <cfPers> <cfPersId>ibn-Pers-12053</cfPersId> <cfPersName_Pers> <cfPersNameId>ibn-PersName-12053-2</cfPersNameId> <cfClassId>55f90543-d631-42eb-8d47-d8d9266cbb26</cfClassId> <cfClassSchemeId>7375609d-cfa6-45ce-a803-75de69abe21f</cfClassSchemeId> <cfStartDate>2022T24:00:00</cfStartDate> <cfFamilyNames>Sprincean</cfFamilyNames> <cfFirstNames>Mariana</cfFirstNames> </cfPersName_Pers> </cfPers> <cfPers> <cfPersId>ibn-Pers-11770</cfPersId> <cfPersName_Pers> <cfPersNameId>ibn-PersName-11770-2</cfPersNameId> <cfClassId>55f90543-d631-42eb-8d47-d8d9266cbb26</cfClassId> <cfClassSchemeId>7375609d-cfa6-45ce-a803-75de69abe21f</cfClassSchemeId> <cfStartDate>2022T24:00:00</cfStartDate> <cfFamilyNames>Ревенко</cfFamilyNames> <cfFirstNames>Нелли</cfFirstNames> </cfPersName_Pers> </cfPers> </CERIF>