40 research outputs found
Psychiatric manifestations of multiple sclerosis and acute disseminated encephalomyelitis
It is unusual for acute disseminated encephalomyelitis and multiple sclerosis to present as purely psychiatric disorders. We report five patients with such demyelinating diseases and symptoms of psychosis, depression or anxiety. The importance of excluding demyelination as the basis for these psychiatric disturbances is emphasized, especially in the presence of unexplained neurologic findings. The possible relationship between psychiatric symptoms and demyelinating disorders is explored
Rozsiane zapalenie m贸zgu i rdzenia kr臋gowego oraz stwardnienie rozsiane; dwie r贸偶ne choroby - spojrzenie krytyczne
Podj臋cie leczenia immunomodulacyjnego bezpo艣rednio po wyst膮pieniu
pierwszego izolowanego zespo艂u objaw贸w (CIS, clinically
isolated syndrome), sugeruj膮cego stwardnienie rozsiane
(SM, sclerosis multiplex), powinno by膰 poprzedzone diagnostyk膮
r贸偶nicow膮 z wykluczeniem rozsianego zapalenia m贸zgu i rdzenia
kr臋gowego (DEM, disseminated encephalomyelitis). Przebieg kliniczny,
w艂a艣ciwo艣ci genetyczne, obraz histopatologiczny oraz
wyniki bada艅 obrazowych wskazuj膮, 偶e DEM i SM s膮 odr臋bnymi
jednostkami chorobowymi. Ostre i nawracaj膮ce DEM cz臋艣ciej dotyczy
dzieci, ale mo偶e r贸wnie偶 wyst膮pi膰 u os贸b doros艂ych. Przebieg
DEM jest wieloobjawowy. W por贸wnaniu z SM cz臋艣ciej wyst臋puj膮
gor膮czka, zaburzenia 艣wiadomo艣ci, zaburzenia poznawcze,
afazja i objawy oponowe. Rzadko stwierdza si臋 obecno艣膰
pr膮偶k贸w oligoklonalnych w p艂ynie m贸zgowo-rdzeniowym. Rezonans
magnetyczny (MRI, magnetic resonance imaging) jest najlepsz膮
metod膮 obrazowania o艣rodkowego uk艂adu nerwowego
wykorzystywan膮 w diagnostyce r贸偶nicowej DEM i SM. W przypadku
DEM wyst臋puje wiele ognisk demielinizacji w istocie bia艂ej.
Zmiany umiejscawiaj膮 si臋 tak偶e we wzg贸rzu i j膮drach podstawy.
W pocz膮tkowej fazie choroby s膮 zwykle bardziej rozleg艂e ni偶
w przypadku SM i wzmacniaj膮 si臋 po podaniu gadoliny. W obrazie
MRI stwierdza si臋 wyst臋powanie ognisk demielinizacyjnych obejmuj膮cych co najmniej trzy segmenty rdzenia kr臋gowego oraz
zapalenie nerw贸w wzrokowych (NMO, neuromyelitis optica). Niekiedy
NMO towarzyszy obecno艣膰 przeciwcia艂 przeciw akwaporynie
4, ale bywaj膮 tak偶e stwierdzane w SM oraz DEM. W wi臋kszo艣ci
przypadk贸w NMO jest sk艂adow膮 DEM, a nie SM i przypomina
„orientaln膮” lub „wzrokowo-rdzeniow膮” posta膰 SM
Correlation of the VEMP score, ambulation and upper extremity function in clinically isolated syndrome
OBJECTIVE:
To investigate the correlation of the vestibular evoked myogenic potential (VEMP) score with Timed 25-Foot Walk (T25FW), 9-Hole Peg Test (9HPT), Paced Auditory Serial Addition Test (PASAT) and EDSS in patients with multiple sclerosis (MS). -----
METHODS:
This prospective, cross sectional study included 52 patients with clinically isolated syndrome (CIS). Cervical VEMP (cVEMP) and ocular VEMP (oVEMP), analyzed in the form of the cVEMP, oVEMP and VEMP scores, T25FW, 9HPT, PASAT and Expanded Disability Status Scale (EDSS) were performed. -----
RESULTS:
The only predictor of walking impairment in this study was general disability as measured by the EDSS, after controlling for age, gender, PASAT and EDSS the effect of VEMP score was non-significant (p=0.419). 9HPT of the dominant hand did not correlate with the oVEMP score (rs=0.258, p=0.065), however after controlling for age, gender, PASAT and EDSS, the effect of the oVEMP score on 9HPT of the dominant hand was statistically significant (p=0.017). After controlling for age, gender and oVEMP score, the effect of the PASAT on 9HPT variable for the non-dominant hand was statistically significant (p=0.001). -----
CONCLUSION:
We found possible effects of brainstem dysfunction on walking impairment, however they were not seen after correction for EDSS and cognitive dysfunction. On the other hand, dominant hand function seems to be influenced by upper brainstem dysfunction measured with oVEMP, while cognitive dysfunction is related to non-dominant hand function
Should MS be Treated by Escalation or Induction Therapy?
MS is a chronic, increasingly disabling disease whose long-term outcomes determine the key social, medical and economic impact of this disease. Disease-modifying therapies (DMTs) for multiple sclerosis (MS) are prescribed to delay disease progression and to protect a patient鈥檚 functional capability. The concepts of escalation and induction immunotherapy in MS represent different therapeutic strategies for the treatment of MS. Both strategies may be valuable options for patients starting on DMT, however, induction therapy mainly focuses on patients with very aggressive course of MS from the onset. Using a patient unique approach to selection of treatment, MS can be effectively control disease and may delay or even prevent the development of secondary progressive MS
Gordon Holmesov sindrom prvi put dijagnosticiran u Hrvatskoj
Prikazuje se 38-godi拧nja bolesnica koja se klini膷ki prezentirala ataksijom, kognitivnom disfunkcijom i sekundarnom amenorejom, s izra啪enim hiperintenzivnim promjenama na magnetskoj rezonanciji mozga (MR). Klini膷ki simptomi po膷eli su u dobi od 20 godina razvojem sekundarne amenoreje, nestabilnosti u hodu i kognitivnom disfunkcijom. Iako je ovakav skup povezanih simptoma ataksije, primarne/sekundarne amenoreje uslijed hipogonadotropnog hipogonadizma i kognitivne disfunkcije poznat kao Gordon Holmesov sindrom (GHS), takav do sada nije opisan u Hrvatskoj. Zbog navedenog, dotada拧nja klini膷ka dijagnostika u razli膷itim neurolo拧kim institucijama koja je bila u po膷etku usmjerena primarno na ataksiju, kognitivni poreme膰aj te nalaz hiperintenzivnih promjena na MR-u mozga, zanemaruju膰i sekundarnu amenoreju, bila je neuspje拧na. Analizom velike grupe autosomno-recesivnih cerebelarnih ataksija na拧a grupa uo膷ila je podudarnost skupa klini膷kih simptoma: cerebelarne ataksije, kognitivne disfunkcije i hipogonadotropnog hipogonadizma, uz karakteristi膷an MR nalaz specifi膷nih subkortikalnih hiperintenzivnih promjena bijele tvari, talamusa i mo啪danog debla i cerebelarne atrofije, koji 膷ine sindrom uzrokovan mutacijom gena ATM RNF216, Gordon Holmesov sindrom. Sekvencijska genomska analiza u膷injena u Variantyx laboratoriju u SAD-u pokazala je u na拧e bolesnice slo啪enu heterozigotnu mutaciju RNF216 拧to je potvrdilo dijagnozu GHS-a, prvi put dijagnosticiranog u Hrvatskoj
Typical course of cystinuria leading to untypical complications in pregnancy: A case report and review of literature
Cystinuria is a rare genetic disorder inherited by an autosomal recessive pattern which affects the transmembrane transporter for the base amino acid cystine. It has a general prevalence of 1 in 7000 with demographic variations. Patients with cystinuria have excessive urinary excretion of cystine, which can lead to the formation of stones. Up to 70% of patients will develop chronic kidney disease that can progress even to end-stage renal disease. Symptoms usually start in the first two decades of life with a typical presentation consisting of flank pain and renal colic, usually accompanied by urinary tract infection and deterioration of kidney function. Men are typically affected twice as often as women and have a more severe clinical course. Diagnosis is made by spectrophotometric analysis of the stones that are collected after spontaneous expulsion or medical intervention. Genetic testing is not mandatory but is recommended in uncertain cases or as a part of genetic counseling. Treatment consists of diet modification, alkalization of urine, and thiol-based therapies if other measures fail to prevent stone formation. In pregnancy, cystinuria with the formation of cystine stones represents a therapeutic challenge and requires a multidisciplinary approach consisting of an uro-nephrology team and a gynecologist. We present the case of a 34-year-old woman with cystinuria on whom the diagnosis was made by analysis of the expulsed stone. While her previous pregnancies were without complications, her third pregnancy was accompanied by frequent urinary tract infections, acute worsening of kidney function, and urological interventions during pregnancy due to the formation of new stones. Despite the complicated course, the pregnancy was successfully carried to term with the delivery of a healthy female child