Articolul precedent |
Articolul urmator |
581 13 |
Ultima descărcare din IBN: 2023-11-21 21:32 |
Căutarea după subiecte similare conform CZU |
616.74-007.17-053.2:575.224.2 (1) |
Patologia organelor de locomoţie. Sistemul osos şi locomotor (469) |
Genetică generală. Citogenetică generală (427) |
SM ISO690:2012 SPRINCEAN, Mariana, HADJIU, Svetlana, RACOVIȚĂ, Stela, BURAC, Nadejda, SAKARA, Viktoria K., LUPUŞOR, Nadejda, GRÎU, Corina, CUZNETZ, Ludmila, FEGHIU, Ludmila, HALABUDENCO, Elena, CĂLCÎI, Cornelia, REVENCO, Ninel. Clinical-genetic particularities of progressive muscular dystrophies in children. In: International Congress of Geneticists and Breeders from the Republic of Moldova, Ed. 11, 15-16 iunie 2021, Chişinău. Chișinău, Republica Moldova: Centrul Editorial-Poligrafic al Universităţii de Stat din Moldova, 2021, Ediția 11, p. 62. ISBN 978-9975-933-56-8. DOI: https://doi.org/10.53040/cga11.2021.044 |
EXPORT metadate: Google Scholar Crossref CERIF DataCite Dublin Core |
International Congress of Geneticists and Breeders from the Republic of Moldova Ediția 11, 2021 |
||||||
Congresul "International Congress of Geneticists and Breeders from the Republic of Moldova" 11, Chişinău, Moldova, 15-16 iunie 2021 | ||||||
|
||||||
DOI:https://doi.org/10.53040/cga11.2021.044 | ||||||
CZU: 616.74-007.17-053.2:575.224.2 | ||||||
Pag. 62-62 | ||||||
|
||||||
Descarcă PDF | ||||||
Rezumat | ||||||
Progressive Muscular Dystrophies (PMD) is a group of genetic pathologies, with different type of hereditary transmission, manifested by progressive muscular weakness, motor disorders and impaired skeletal, cardiac and respiratory systems with a different degree of severity of the disease. Scope of the presenting work: The elucidation of the clinical-neurological aspects of Duchenne progressive muscular dystrophy (DMD) and limb-girdle muscular dystrophy and presentation of two clinical cases. The described clinical cases of boys with DMD and limb-girdle PMD allowed to highlight the variety of clinical characteristics of the disease. Clinical case 1: Patient A. D. Age 6 years. Neurologic status: Abolished tendon reflexes, muscular force in the limbs 3 points. “Wadding gait”. Was mentioned pseudohypertrophy of gastrocnemian muscles. Lumbar lordosis. Clinical diagnosis: Primary myopathy. Duchenne progressive muscular dystrophy. Severe motor disorders. Laboratory investigations: ALT – 294 U/l (1-49 U/l); AST – 201 U/l (146 U/l); Creatine kinase (CK) MB – 833 U/l, (0 – 25 U/l); Total creatine kinase – 14740 U/l (24 – 195 U/l); Lactate dehydrogenase (LDH) – 1934 (200 – 400 U/l). By molecular genetic DNA analysis was detected deletion of exons 45 – 52 of dystrophin gene. Electromyoneurography (ENMG): The amplitudes of the muscles potentials of action are reduced, blocks of conduction are present. Clinical case 2: Patient M. A., 17 years old. Neurologic examination: Tendon reflexes are abolished, muscular force in upper limbs is 3 p, in lower limbs 4 p. The gait is myopathic. There is atrophy of thigh muscles. Biochimical testing: Total CK is 486 U/l, CK MB is 36 U/l, LDH is 358 U/l. ENMG: Bilateral increasing of F latency on the level of fibers of posterior tibial nerve, accentuated in left. ECG: Cardiac rhythm is 86 BPM, axis shifted to right, hypertrophy of right atrium. Clinical diagnosis: Limb-girdle progressive muscular dystrophy. Motor disorders, severe motor deficit. Cardiomyopathy. PMD represents a group of disorders with many phenotypic characteristics, which are difficult to diagnose in the early stages of the disease. |
||||||
|
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-132813</cfResPublId> <cfResPublDate>2021</cfResPublDate> <cfVol>Ediția 11</cfVol> <cfStartPage>62</cfStartPage> <cfISBN>978-9975-933-56-8</cfISBN> <cfURI>https://ibn.idsi.md/ro/vizualizare_articol/132813</cfURI> <cfTitle cfLangCode='EN' cfTrans='o'>Clinical-genetic particularities of progressive muscular dystrophies in children</cfTitle> <cfAbstr cfLangCode='EN' cfTrans='o'><p>Progressive Muscular Dystrophies (PMD) is a group of genetic pathologies, with different type of hereditary transmission, manifested by progressive muscular weakness, motor disorders and impaired skeletal, cardiac and respiratory systems with a different degree of severity of the disease. Scope of the presenting work: The elucidation of the clinical-neurological aspects of Duchenne progressive muscular dystrophy (DMD) and limb-girdle muscular dystrophy and presentation of two clinical cases. The described clinical cases of boys with DMD and limb-girdle PMD allowed to highlight the variety of clinical characteristics of the disease. Clinical case 1: Patient A. D. Age 6 years. Neurologic status: Abolished tendon reflexes, muscular force in the limbs 3 points. “Wadding gait”. Was mentioned pseudohypertrophy of gastrocnemian muscles. Lumbar lordosis. Clinical diagnosis: Primary myopathy. Duchenne progressive muscular dystrophy. Severe motor disorders. Laboratory investigations: ALT – 294 U/l (1-49 U/l); AST – 201 U/l (146 U/l); Creatine kinase (CK) MB – 833 U/l, (0 – 25 U/l); Total creatine kinase – 14740 U/l (24 – 195 U/l); Lactate dehydrogenase (LDH) – 1934 (200 – 400 U/l). By molecular genetic DNA analysis was detected deletion of exons 45 – 52 of dystrophin gene. Electromyoneurography (ENMG): The amplitudes of the muscles potentials of action are reduced, blocks of conduction are present. Clinical case 2: Patient M. A., 17 years old. Neurologic examination: Tendon reflexes are abolished, muscular force in upper limbs is 3 p, in lower limbs 4 p. The gait is myopathic. There is atrophy of thigh muscles. Biochimical testing: Total CK is 486 U/l, CK MB is 36 U/l, LDH is 358 U/l. ENMG: Bilateral increasing of F latency on the level of fibers of posterior tibial nerve, accentuated in left. ECG: Cardiac rhythm is 86 BPM, axis shifted to right, hypertrophy of right atrium. Clinical diagnosis: Limb-girdle progressive muscular dystrophy. Motor disorders, severe motor deficit. Cardiomyopathy. PMD represents a group of disorders with many phenotypic characteristics, which are difficult to diagnose in the early stages of the disease.</p></cfAbstr> <cfResPubl_Class> <cfClassId>eda2d9e9-34c5-11e1-b86c-0800200c9a66</cfClassId> <cfClassSchemeId>759af938-34ae-11e1-b86c-0800200c9a66</cfClassSchemeId> <cfStartDate>2021T24:00:00</cfStartDate> </cfResPubl_Class> <cfResPubl_Class> <cfClassId>e601872f-4b7e-4d88-929f-7df027b226c9</cfClassId> <cfClassSchemeId>40e90e2f-446d-460a-98e5-5dce57550c48</cfClassSchemeId> <cfStartDate>2021T24:00:00</cfStartDate> </cfResPubl_Class> <cfPers_ResPubl> <cfPersId>ibn-person-12053</cfPersId> <cfClassId>49815870-1cfe-11e1-8bc2-0800200c9a66</cfClassId> <cfClassSchemeId>b7135ad0-1d00-11e1-8bc2-0800200c9a66</cfClassSchemeId> <cfStartDate>2021T24:00:00</cfStartDate> </cfPers_ResPubl> <cfPers_ResPubl> <cfPersId>ibn-person-11167</cfPersId> <cfClassId>49815870-1cfe-11e1-8bc2-0800200c9a66</cfClassId> <cfClassSchemeId>b7135ad0-1d00-11e1-8bc2-0800200c9a66</cfClassSchemeId> <cfStartDate>2021T24:00:00</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>2021T24:00:00</cfStartDate> </cfPers_ResPubl> <cfPers_ResPubl> <cfPersId>ibn-person-89864</cfPersId> <cfClassId>49815870-1cfe-11e1-8bc2-0800200c9a66</cfClassId> <cfClassSchemeId>b7135ad0-1d00-11e1-8bc2-0800200c9a66</cfClassSchemeId> <cfStartDate>2021T24:00:00</cfStartDate> </cfPers_ResPubl> <cfPers_ResPubl> <cfPersId>ibn-person-12123</cfPersId> <cfClassId>49815870-1cfe-11e1-8bc2-0800200c9a66</cfClassId> <cfClassSchemeId>b7135ad0-1d00-11e1-8bc2-0800200c9a66</cfClassSchemeId> <cfStartDate>2021T24:00:00</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>2021T24:00:00</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>2021T24:00:00</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>2021T24:00:00</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>2021T24:00:00</cfStartDate> </cfPers_ResPubl> <cfPers_ResPubl> <cfPersId>ibn-person-29680</cfPersId> <cfClassId>49815870-1cfe-11e1-8bc2-0800200c9a66</cfClassId> <cfClassSchemeId>b7135ad0-1d00-11e1-8bc2-0800200c9a66</cfClassSchemeId> <cfStartDate>2021T24:00:00</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>2021T24:00:00</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>2021T24:00:00</cfStartDate> </cfPers_ResPubl> <cfFedId> <cfFedIdId>ibn-doi-132813</cfFedIdId> <cfFedId>10.53040/cga11.2021</cfFedId> <cfStartDate>2021T24:00:00</cfStartDate> <cfFedId_Class> <cfClassId>31d222b4-11e0-434b-b5ae-088119c51189</cfClassId> <cfClassSchemeId>bccb3266-689d-4740-a039-c96594b4d916</cfClassSchemeId> </cfFedId_Class> <cfFedId_Srv> <cfSrvId>5123451</cfSrvId> <cfClassId>eda2b2e2-34c5-11e1-b86c-0800200c9a66</cfClassId> <cfClassSchemeId>5a270628-f593-4ff4-a44a-95660c76e182</cfClassSchemeId> </cfFedId_Srv> </cfFedId> </cfResPubl> <cfPers> <cfPersId>ibn-Pers-12053</cfPersId> <cfPersName_Pers> <cfPersNameId>ibn-PersName-12053-3</cfPersNameId> <cfClassId>55f90543-d631-42eb-8d47-d8d9266cbb26</cfClassId> <cfClassSchemeId>7375609d-cfa6-45ce-a803-75de69abe21f</cfClassSchemeId> <cfStartDate>2021T24:00:00</cfStartDate> <cfFamilyNames>Sprincean</cfFamilyNames> <cfFirstNames>Mariana</cfFirstNames> </cfPersName_Pers> </cfPers> <cfPers> <cfPersId>ibn-Pers-11167</cfPersId> <cfPersName_Pers> <cfPersNameId>ibn-PersName-11167-3</cfPersNameId> <cfClassId>55f90543-d631-42eb-8d47-d8d9266cbb26</cfClassId> <cfClassSchemeId>7375609d-cfa6-45ce-a803-75de69abe21f</cfClassSchemeId> <cfStartDate>2021T24:00:00</cfStartDate> <cfFamilyNames>Hadjiu</cfFamilyNames> <cfFirstNames>Svetlana</cfFirstNames> </cfPersName_Pers> </cfPers> <cfPers> <cfPersId>ibn-Pers-57694</cfPersId> <cfPersName_Pers> <cfPersNameId>ibn-PersName-57694-3</cfPersNameId> <cfClassId>55f90543-d631-42eb-8d47-d8d9266cbb26</cfClassId> <cfClassSchemeId>7375609d-cfa6-45ce-a803-75de69abe21f</cfClassSchemeId> <cfStartDate>2021T24:00:00</cfStartDate> <cfFamilyNames>Racoviță</cfFamilyNames> <cfFirstNames>Stela</cfFirstNames> </cfPersName_Pers> </cfPers> <cfPers> <cfPersId>ibn-Pers-89864</cfPersId> <cfPersName_Pers> <cfPersNameId>ibn-PersName-89864-3</cfPersNameId> <cfClassId>55f90543-d631-42eb-8d47-d8d9266cbb26</cfClassId> <cfClassSchemeId>7375609d-cfa6-45ce-a803-75de69abe21f</cfClassSchemeId> <cfStartDate>2021T24:00:00</cfStartDate> <cfFamilyNames>Burac</cfFamilyNames> <cfFirstNames>Nadejda</cfFirstNames> </cfPersName_Pers> </cfPers> <cfPers> <cfPersId>ibn-Pers-12123</cfPersId> <cfPersName_Pers> <cfPersNameId>ibn-PersName-12123-3</cfPersNameId> <cfClassId>55f90543-d631-42eb-8d47-d8d9266cbb26</cfClassId> <cfClassSchemeId>7375609d-cfa6-45ce-a803-75de69abe21f</cfClassSchemeId> <cfStartDate>2021T24:00:00</cfStartDate> <cfFamilyNames>Sakara</cfFamilyNames> <cfFirstNames>Viktoria K.</cfFirstNames> </cfPersName_Pers> </cfPers> <cfPers> <cfPersId>ibn-Pers-29914</cfPersId> <cfPersName_Pers> <cfPersNameId>ibn-PersName-29914-3</cfPersNameId> <cfClassId>55f90543-d631-42eb-8d47-d8d9266cbb26</cfClassId> <cfClassSchemeId>7375609d-cfa6-45ce-a803-75de69abe21f</cfClassSchemeId> <cfStartDate>2021T24:00:00</cfStartDate> <cfFamilyNames>Lupuşor</cfFamilyNames> <cfFirstNames>Nadejda</cfFirstNames> </cfPersName_Pers> </cfPers> <cfPers> <cfPersId>ibn-Pers-57697</cfPersId> <cfPersName_Pers> <cfPersNameId>ibn-PersName-57697-3</cfPersNameId> <cfClassId>55f90543-d631-42eb-8d47-d8d9266cbb26</cfClassId> <cfClassSchemeId>7375609d-cfa6-45ce-a803-75de69abe21f</cfClassSchemeId> <cfStartDate>2021T24:00:00</cfStartDate> <cfFamilyNames>Грыу</cfFamilyNames> <cfFirstNames>К.</cfFirstNames> </cfPersName_Pers> </cfPers> <cfPers> <cfPersId>ibn-Pers-82593</cfPersId> <cfPersName_Pers> <cfPersNameId>ibn-PersName-82593-3</cfPersNameId> <cfClassId>55f90543-d631-42eb-8d47-d8d9266cbb26</cfClassId> <cfClassSchemeId>7375609d-cfa6-45ce-a803-75de69abe21f</cfClassSchemeId> <cfStartDate>2021T24:00:00</cfStartDate> <cfFamilyNames>Cuznetz</cfFamilyNames> <cfFirstNames>Ludmila</cfFirstNames> </cfPersName_Pers> </cfPers> <cfPers> <cfPersId>ibn-Pers-57696</cfPersId> <cfPersName_Pers> <cfPersNameId>ibn-PersName-57696-3</cfPersNameId> <cfClassId>55f90543-d631-42eb-8d47-d8d9266cbb26</cfClassId> <cfClassSchemeId>7375609d-cfa6-45ce-a803-75de69abe21f</cfClassSchemeId> <cfStartDate>2021T24:00:00</cfStartDate> <cfFamilyNames>Feghiu</cfFamilyNames> <cfFirstNames>Ludmila</cfFirstNames> </cfPersName_Pers> </cfPers> <cfPers> <cfPersId>ibn-Pers-29680</cfPersId> <cfPersName_Pers> <cfPersNameId>ibn-PersName-29680-3</cfPersNameId> <cfClassId>55f90543-d631-42eb-8d47-d8d9266cbb26</cfClassId> <cfClassSchemeId>7375609d-cfa6-45ce-a803-75de69abe21f</cfClassSchemeId> <cfStartDate>2021T24:00:00</cfStartDate> <cfFamilyNames>Halabudenco</cfFamilyNames> <cfFirstNames>Elena</cfFirstNames> </cfPersName_Pers> </cfPers> <cfPers> <cfPersId>ibn-Pers-29257</cfPersId> <cfPersName_Pers> <cfPersNameId>ibn-PersName-29257-3</cfPersNameId> <cfClassId>55f90543-d631-42eb-8d47-d8d9266cbb26</cfClassId> <cfClassSchemeId>7375609d-cfa6-45ce-a803-75de69abe21f</cfClassSchemeId> <cfStartDate>2021T24:00:00</cfStartDate> <cfFamilyNames>Călcîi</cfFamilyNames> <cfFirstNames>Cornelia</cfFirstNames> </cfPersName_Pers> </cfPers> <cfPers> <cfPersId>ibn-Pers-11770</cfPersId> <cfPersName_Pers> <cfPersNameId>ibn-PersName-11770-3</cfPersNameId> <cfClassId>55f90543-d631-42eb-8d47-d8d9266cbb26</cfClassId> <cfClassSchemeId>7375609d-cfa6-45ce-a803-75de69abe21f</cfClassSchemeId> <cfStartDate>2021T24:00:00</cfStartDate> <cfFamilyNames>Ревенко</cfFamilyNames> <cfFirstNames>Нелли</cfFirstNames> </cfPersName_Pers> </cfPers> <cfSrv> <cfSrvId>5123451</cfSrvId> <cfName cfLangCode='en' cfTrans='o'>CrossRef DOI prefix service</cfName> <cfDescr cfLangCode='en' cfTrans='o'>The service of issuing DOI prefixes to publishers</cfDescr> <cfKeyw cfLangCode='en' cfTrans='o'>persistent identifier; Digital Object Identifier</cfKeyw> </cfSrv> </CERIF>