Naslov (srp)

Ispitivanje stepena onesposobljenosti i kvaliteta života kod pacijenata sa hereditarnim neuropatijama uzrokovanim mutacijama u PMP22 genu : doktorska disertacija

Autor

Bjelica, Bogdan, 1992-

Doprinosi

Vujnić, Milorad, 1979-
Stević, Zorica, 1959-
Novaković, Ivana, 1961-
Rakočević-Stojanović, Vidosava, 1957-

Opis (srp)

Uvod: Mutacije u genu koji kodira periferni mijelinski protein 22 klinički se mogu ispoljiti kao Charcot-Marie-Tooth-ova neuropatija tip 1A (CMT1A) ili kao hereditarna neuropatija sa sklonošću ka kompresivnim paralizama (HNPP). Iako je poznata činjenica da je kvalitet života (KŽ) ovih bolesnika lošiji, mali je broj studija koje su detaljno analizirale uticaj neurološkog deficita, onesposobljenosti i atipičnih simptoma, kao što su neuropatski bol (NB), poremećaji autonomnog nervnog sistema, vestibularna disfunkcija, sindrom nemirnih nogu (RLS) i poremećaj hoda, na KŽ i radni status ovih bolesnika.Ciljevi: Cilj ovog istraživanja je bio da se detaljno analizira izraženost neurološkog deficita, stepen onesposobljenosti i zastupljenost atipičnih simptoma kod bolesnika u Srbiji sa CMT1A i HNPP, kao i njihov uticaj na KŽ i radni status obolelih. Pored toga, cilj je bio da se ispita uticaj bolesti na poremećaje menstrualnog ciklusa, tok trudnoće i porođaj bolesnica sa CMT1A i HNPP.Materijal i metode: Istraživanje je sprovedeno kao studija preseka koja je uključila 51 CMT1A i 18 HNPP bolesnika lečenih na Klinici za neurologiju Kliničkog centra Srbije, a kod kojih je dijagnoza bolesti potvrđena molekularno-genetskom analizom. U studiji su korišćene sledeće skale/skorovi: skala za procenu mišićne snage (Medical Research Counsil Sum Score – MRC-SS), skorovi za procenu težine CMT neuropatije (CMT Neuropathy Score – CMTNS; CMT Examination Score – CMTES), skala ograničenosti neuropatijom (Overall Neuropathy Limitations Scale - ONLS) i skala za procenu kognitivnih sposobnosti (Mini-Mental State Examination – MMSE). U istraživanju su takođe korišćeni i sledeći upitnici: upitnik za procenu neuropatskog bola (painDETECT – PD-Q), upitnik za procenu autonomnih simptoma kod Parkinsonove bolesti (Scales for Outcomes in PArkinson‘s disease for Autonomic symptoms – SCOPA-AUT), upitnik za procenu težine RLS (Restless Legs Syndrome Rating Scale – RLS-RS), srpska verzija upitnika o KŽ (36-Item Short Form Survey – SF-36), Krupp-ova skala za procenu težine zamora (Krupp’s fatigue severity scale - FSS), Beckova skala depresivnosti (Beck Depression Inventory - BDI) i posebno konstruisani upitnici o radnom statusu obolelih i uticaju bolesti na menstrualni ciklus i tok trudnoće/porođaja ženskih ispitanika sa CMT1A i HNPP. Disfunkcija vestibularnog nervnog sistema ispitana je pomoću video head-implus testa (v-HIT). Poremećaji hoda analizirani su pomoću GAITRite staze, opremljene senzorima koji registruju pritisak...

Opis (srp)

medicina - neuronauke / medicine- neuroscience Datum odbrane: 25.09.2024.

Opis (eng)

Background: Mutations in the gene encoding peripheral myelin protein 22 clinically manifest as Charcot-Marie-Tooth neuropathy type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP). Atypical symptoms, such as neuropathic pain (NP), autonomic nervous system disorders, vestibular dysfunction, restless leg syndrome (RLS), and gait disturbances, as well as their impact on quality of life (QoL) and employment status, have been poorly investigated.Aims: Analysis of neurological deficit, degree of disability, and atypical symptoms in Serbian patients with CMT1A and HNPP, as well as their impact on QoL and employment status; investigation of the frequency of menstrual cycle disorders, pregnancy course, and childbirth outcomes in female patients with CMT1A.Material and methods: This cross-sectional study investigated 51 CMT1A and 18 HNPP patients treated at the Neurology Clinic, Clinical Center of Serbia, whose diagnoses were confirmed by molecular genetic analysis. The study utilized the following scales/scores: Medical Research Council Sum Score (MRC-SS) for assessing muscle strength, scores for evaluating the severity of CMT neuropathy (CMT Neuropathy Score – CMTNS; CMT Examination Score – CMTES), Overall Neuropathy Limitations Scale (ONLS) for neuropathy-related limitations, and Mini-Mental State Examination (MMSE) for assessing cognitive abilities. The study also included the following questionnaires: painDETECT questionnaire (PD-Q) for NP assessment, Scales for Outcomes in Parkinson's disease for Autonomic symptoms (SCOPA-AUT) questionnaire for assessing autonomic symptoms, Restless Legs Syndrome Rating Scale (RLS-RS) for evaluating RLS severity, Serbian version of the 36-Item Short Form Survey (SF-36) for assessing QoL, Krupp's fatigue severity scale (FSS), Beck Depression Inventory (BDI) for depression assessment, and specifically designed questionnaires regarding employment status and menstrual cycle/pregnancy/childbirth-related disturbances. Vestibular nerve system dysfunction was examined using the video head-impulse test (v-HIT). Gait disturbances were analyzed using the GAITRite walkway equipped with pressure sensors...

Jezik

srpski

Datum

2024

Licenca

Ovo delo je licencirano pod uslovima licence
Creative Commons CC BY 3.0 AT - Creative Commons Autorstvo 3.0 Austria License.

http://creativecommons.org/licenses/by/3.0/at/legalcode

Predmet

OSNO - Opšta sistematizacija naučnih oblasti, Neurologija. Neuropatije

Charcot-Marie-Tooth neuropathy type 1A (CMT1A); hereditary neuropathy with liability to pressure palsies (HNPP); atypical symptoms; work status; quality of life

OSNO - Opšta sistematizacija naučnih oblasti, Neurologija. Neuropatije

Charcot-Marie-Tooth-ova neuropatija tip 1A (CMT1A); hereditarna neuropatija sa sklonošću ka kompresivnim paralizama (HNPP); atipični simptomi; radni status; kvalitet života

616.85-036:577.2(043.3)