Ildikó Vastagh - Academia.edu (original) (raw)

Papers by Ildikó Vastagh

Az X-kromoszómához kötötten öröklõdõ Fabry-betegség a galaktozidáz-a gén betegségokozó variációin... more Az X-kromoszómához kötötten öröklõdõ Fabry-betegség a galaktozidáz-a gén betegségokozó variációinak következtében létrejövõ a-galaktozidáz-A enzim instabilitása, csökkent biológiai aktivitása vagy hiánya miatt kialakuló lizoszomális tárolási megbetegedés. A kóros enzimmûködés/enzimhiány glikoszfingolipid felhalmozódáshoz, gyakran már gyermekkorban jelentkezõ klinikai tünetegyütteshez, és fõleg a harmadik évtized után kialakuló, életet veszélyeztetõ szövõdmények kialakulásához vezethet. Jelenleg Magyarországon betegség-specifikus terápiaként enzimpótló kezelés vagy farmakológiai chaperon terápia áll rendelkezésre. A helyes diagnózis elengedhetetlen a megfelelõ betegség-specifikus terápia kiválasztásához és minél elõbbi elindításához, hogy a glikoszfingolipid felhalmozódás okozta irreverzibilis károsodások kialakulását megelõzzük, illetve lassítsuk. Részletesen bemutatjuk a klinikai tüneteket, a molekuláris diagnosztikát és diagnosztikai kritériumrendszert, valamint ismertetjük a geno...

PLOS ONE

Objectives Comprehensive statistics evaluating pregnancies complicated by various medical conditi... more Objectives Comprehensive statistics evaluating pregnancies complicated by various medical conditions are desirable for the optimization of prenatal care and for improving maternal and fetal outcomes. The main objective of our study was to assess pregnancies during a 13-year study period with accompanying pregestational neurological disorders in medical history on a nationwide level. Methods In the framework of the NEUROHUN 2004–2017 project utilizing medical reports submitted for reimbursement purposes to the National Health Insurance Fund, we included women with at least one labor during 2004–2016 who had at least one pregestational diagnosis of a neurological disorder received within this time frame prior to their first pregnancy during the studied period. Three-digit codes from the 10th International Classification of Diseases (ICD) were used for the identification and classification of neurological and obstetrical conditions. Results Specific inclusion and exclusion criteria wer...

Journal of the Neurological Sciences, 2013

Background: Isolated acute bilateral ophthalmoplegia is an uncommon occurrence, but it may cause ... more Background: Isolated acute bilateral ophthalmoplegia is an uncommon occurrence, but it may cause differential diagnostic problems. It may be a manifestation of the Miller Fisher syndrome spectrum, which has been recently referred to as anti-GQ1b syndrome. Objective: To present a case with acute bilateral ophthalmoplegia associated with anti-GQ1b antibody positivity, but without other typical signs of Miller Fisher syndrome (MFS). Differential diagnostic aspects are highlighted. Patient: A 57-year-old female patient presented with an acute onset of diplopia, progressing to bilateral ophthalmoplegia within days. These symptoms were preceded by flu-like symptoms. Deep tendon reflexes were diminished, otherwise her neurological status was unremarkable, the typical triad of MFS was not observed. MRI of the brain was normal. Cerebrospinal fluid examination revealed increased protein content with normal cell count. Electrophysiological assessment showed normal sensory nerve action potentials, whereas low amplitude or absent sensory nerve action potentials are characteristic findings in MFS. Serological testing confirmed anti-GQ1b class IgG antibody positivity, supporting the diagnosis of MFS spectrum. The patient fully recovered within 3 months, without any specific treatment, showing the benign nature of the condition. Discussion: Acute ophthalmoparesis may be a restricted form anti-GQ1b syndrome. In addition to classical MFS, further variants include Bickerstaff's brainstem encephalitis, pharyngeal-cervical-brachial paresis, and acute ataxic sensory neuropathy. Although acute ophthalmoparesis as a manifestation of anti-GQ1b syndrome is a benign condition, it may cause differential diagnostic problems with potentially more serious conditions needing prompt treatment, such as Wernicke's encephalopathy, ocular myasthenia, botulism, paraneoplastic brainstem encephalitis, or brainstem stroke.

Orvosi Hetilap, 2010

Fabry disease is a rare, X-linked lysosomal storage disorder that leads to accumulation of globot... more Fabry disease is a rare, X-linked lysosomal storage disorder that leads to accumulation of globotriaosylceramide in different tissues of the body. The disease is progressive and the first symptoms usually present in childhood. Consequences of the disease are disability and premature death. The disease in females could be as severe as in males although women may be asymptomatic. The possibility of enzyme replacement therapy has made it necessary to elaborate a comprehensive guideline for the diagnosis and treatment follow-up. The guideline has been summarized by a Hungarian multi-disciplinary working group consisting of physicians who are involved in diagnosis and care of Fabry patients. Previous clinical studies, published articles, and recently established international treatment guidelines were reviewed by the group.

Diabetes/Metabolism Research and Reviews, 2010

Background Diabetes mellitus results in accelerated atherosclerosis. We evaluated preclinical, mo... more Background Diabetes mellitus results in accelerated atherosclerosis. We evaluated preclinical, morphological and functional vascular changes in type 1 diabetes mellitus. Methods Diameter, intima-media thickness, intima-media cross-section area, and elasticity features (compliance, distensibility coefficient, circumferential strain, stiffness index, incremental elastic modulus) of the common carotid arteries and carotid-femoral pulse wave velocity were studied in 42 patients with type 1 diabetes mellitus without macroangiopathy, and 41 control subjects matched for sex, age and body mass index using an ultrasonographic vessel wall-movement tracking system and applanation tonometry. Results Significantly larger intima-media thickness (523 ± 55 versus 567 ± 89 µm, p < 0.01), intima-media cross-section area (11.60 ± 1.81 versus 13.08 ± 3.02 mm 2 , p < 0.01), SI (5.58 ± 1.24 versus 7.08 ± 2.69, p < 0.01) and pulse wave velocity (6.00 ± 0.82 versus 6.61 ± 1.56 m/s, p < 0.05) were found in type 1 diabetes mellitus patients compared to controls. When type 1 diabetes mellitus patients with short and long disease duration (≤ or >10 years) were compared, diameter (6450 ± 433 versus 6847 ± 750 µm, p < 0.05), intima-media cross-section area (11.97 ± 1.98 versus 14.01 ± 3.43 mm, p < 0.05) and pulse wave velocity (5.90 ± 0.92 versus 7.20 ± 1.74 m/s, p < 0.01) differed significantly. When multivariate analyses were restricted to type 1 diabetes mellitus patients, age was an independent predictor of stiffness index and pulse wave velocity, the duration of diabetes mellitus of intima-media cross-section area and pulse wave velocity, systolic blood pressure of diameter and pulse wave velocity, and low-density lipoprotein-cholesterol of intima-media thickness, intima-media cross-section area and stiffness index. Conclusions There are differences in the time course of evolution and in predictors of morphological and functional changes in arteries in type 1 diabetes mellitus.

Ideggyógyászati szemle, Jan 30, 2011

We report an unusual case of juvenile ischaemic stroke syndrome associated with the A8344G mutati... more We report an unusual case of juvenile ischaemic stroke syndrome associated with the A8344G mutation in tRNA(Lys) gene of mitochondrial DNA. The clinical phenotype of patient was typical for MELAS (mitochondrial ecephalomyapathy with lactate acidosis and stroke like episodes). The MELAS has been related to mutation A3243G in most cases, but some other mitochondrial DNA mutations were described in the background of this syndrome as well. A 22-years-old man and his family were investigated. Throughout clinical investigation as well as Doppler sonography, neuroradiological, and immunserological examinations were performed. Molecular studies included the analysis of the Leiden, prothrombin G20210A and the most common mitochondrial DNA mutations. The DNA analysis of the proband revealed a heteroplasmic A8344G substitution in the T-loop of the tRNALYS gene. The mutation could not been detected in her mother blood. We can conclude that A8344G mutation of the mitochondrial DNA resulted in ju...

Ideggyógyászati Szemle, May 30, 2008

Occlusion or high grade stenosis of the internal carotid artery may be asymptomatic depending on ... more Occlusion or high grade stenosis of the internal carotid artery may be asymptomatic depending on the collateral patterns in the circle of Willis and the reserve capacity of the microvascular (arteriolar) system. The distensibility of the cerebral arterioles may be described quantitatively by the vasomotor reactivity. We present three patients with severe stenosis of an internal carotid artery associated with more severe stenosis or occlusion of the contralateral internal carotid artery. We continuously measured blood flow velocity in both middle cerebral arteries by transcranial Doppler ultrasound in rest and for 20 minutes after IV administration of 1 g acetazolamide. Arterial blood pressure was determined with tonometry, end-tidal CO2 was determined by a capnometer. In resting condition the anterior communicating artery, the posterior communicating artery and the ophthalmic artery supplied collateral blood flow towards the side of the more severe internal carotid artery disease. B...

Ideggyogyaszati Szemle-clinical Neuroscience, 2008

Az arteria carotis interna sulyos foku szukulete vagyelzarodasa tunetmentesen is kialakulhat. Ezt... more Az arteria carotis interna sulyos foku szukulete vagyelzarodasa tunetmentesen is kialakulhat. Ezt a Willis-korkollateralis rendszere es/vagy az agyi verkeringes szaba-lyozomechanizmusai teszik lehetove. Az agyi arteriolaktagulekonysaga a vasomotor-reaktivitassal jellemezheto. Harom beteget mutatunk be, akik eseteben mindketoldalon az arteria carotis interna kulonbozo mertekusulyos szukulete, vagy az egyik oldalon szukulet, azellenkezo oldalon elzarodas alakult ki. A veraramlassebesseget transcranialis Dopplerrel mertuk 20 percen atmindket arteria cerebri mediaban nyugalomban, es 1 gacetazolamid adasa utan. Az arterias vernyomasttonometrias modszerrel, a kilegzett levego szen-dioxid-tar-talmat kapnometerrel hataroztuk meg.Nyugalmi allapotban mindharom esetben (ket esetbenangiografiaval igazoltan) az arteria communicans anterior,az arteria communicans posterior es az arteria ophthalmi-ca biztositott kollateralis keringest a sulyosabban erintettarteria carotis interna oldala fele. Acet...

A Fabry-kor a lizoszomalis tarolasi betegsegek csoportjaba tartozo, X-kromoszomahoz kototten, rec... more A Fabry-kor a lizoszomalis tarolasi betegsegek csoportjaba tartozo, X-kromoszomahoz kototten, recessziv modon oroklődő betegseg, amely a globotriaosylceramid felhalmozodasahoz vezet a szervezet legkulonbozőbb szoveteiben. A betegseg első tunetei tobbnyire gyermekkorban jelentkeznek, a progresszio soran a betegek sulyos szervi karosodasokkal es korai halalozassal szamolhatnak. Elsősorban fiuk es ferfiak erintettek, azonban a betegseg tuneteit heterozigota nők eseteben is megfigyelhetjuk, de naluk a korkep sulyossaga valtozo, altalaban enyhebb lefolyasu. Az enzimpotlo kezelesek megjelenese szuksegesse tette, hogy reszletes diagnosztikus es terapias protokollt dolgozzunk ki. A jelen dolgozatban megjelenő ajanlasokat egy, a magyarorszagi Fabry-betegek kezeleseben aktivan reszt vevő orvosokbol, a diagnosztika teruleten dolgozo biologosukbol es egyeb szakemberekből allo multidiszciplinaris munkacsoport foglalta ossze. A munkacsoport attekintette a korabbi klinikai tanulmanyokat, a publika...

PURPOSE Stroke is a leading cause of death in developed countries. Recently, its connection with ... more PURPOSE Stroke is a leading cause of death in developed countries. Recently, its connection with oral health has been a focus of the medical literature. The aim of this study was therefore to statistically examine the oral health of subjects who previously suffered from stroke and provide a guide for the dental treatment of these patients. MATERIALS AND METHODS Stroke patients at least one year after the stroke episode and age- and sex-matched healthy controls were examined: dental and medical stroke histories were recorded, followed by a detailed orofacial examination. A categorisation into three 'dental' subgroups of stroke patients was carried out based on their residual symptoms, the functional deficiency of limbs, and chewing and swallowing difficulties. Indices quantifying oral hygiene (OHI-S), dental status explained by the number of decayed, missing, and filled teeth (DMFT), periodontal status (CAL, CPITN, Mühlemann index), and the status of prosthetic treatment (pro...

Stroke

Background and Purpose: Among patients with a transient ischemic attack or minor ischemic strokes... more Background and Purpose: Among patients with a transient ischemic attack or minor ischemic strokes, those with ipsilateral atherosclerotic stenosis of cervicocranial vasculature have the highest risk of recurrent vascular events. Methods: In the double-blind THALES (The Acute Stroke or Transient Ischemic Attack Treated With Ticagrelor and ASA for Prevention of Stroke and Death) trial, we randomized patients with a noncardioembolic, nonsevere ischemic stroke, or high-risk transient ischemic attack to ticagrelor (180 mg loading dose on day 1 followed by 90 mg twice daily for days 2–30) or placebo added to aspirin (300–325 mg on day 1 followed by 75–100 mg daily for days 2–30) within 24 hours of symptom onset. The present paper reports a prespecified analysis in patients with and without ipsilateral, potentially causal atherosclerotic stenosis ≥30% of cervicocranial vasculature. The primary end point was time to the occurrence of stroke or death within 30 days. Results: Of 11 016 random...

Journal of Stroke and Cerebrovascular Diseases

BACKGROUND Although uncommon, cortical hand knob territory stroke is a well-defined stroke entity... more BACKGROUND Although uncommon, cortical hand knob territory stroke is a well-defined stroke entity that mimics peripheral nerve damage. Atherosclerosis and hypertension are the most prevalent risk factors for the disease. Embolic origin, either artery-to-artery or cardioembolic, has been suggested as the most probable underlying mechanism. MATERIALS AND METHODS Twenty-five patients with isolated hand palsy due to central origin were admitted to our department between 2006 and 2016. Cortical lesions were proven by either computed tomography or magnetic resonance imaging. RESULTS The average age was 67 ± 12 years. Most of the cases were first-ever strokes (n = 23, 92%). Isolated infarct in the hand knob region was found in 18 of the 25 cases, whereas 7 had multiple acute infarctions. Supra-aortic atherosclerosis was found in 21 patients, 8 of them had 50% or greater ipsilateral stenosis of the internal carotid artery. Hypertension was the second most prevalent risk factor (n = 20, 80%). Quick improvement of symptoms was seen in almost every case (mean follow-up 17.5 months), 9 patients showed complete recovery, whereas 2 remained disabled and 1 died due to a malignant disease. Three patients suffered a recurrent stroke on follow-up. CONCLUSIONS We conclude that distal arm paresis is a rare presentation of acute stroke with usually benign course.

Orvosi Hetilap, 2016

Thromboangiits obliterans (Buerger’s disease) is a non-atherosclerotic, segmental inflammatory an... more Thromboangiits obliterans (Buerger’s disease) is a non-atherosclerotic, segmental inflammatory and obliterative disease affecting small and medium sized arteries and veins. The etiology is still unknown, but it is in close relationship with tobacco use. Symptoms begin under the age of 45 years and the undulating course is typical. Patients usually present with acute and chronic ischemic or infectious acral lesions. Diagnosis is usually based on clinical and angiographic criteria and it is important to exclude autoimmune disease, thrombophilia, diabetes, and proximal embolic sources. Even though Buerger’s disease most commonly involves the arteries of the extremities, the pathologic findings sometimes affect the cerebral, coronary and internal thoracic, renal and mesenteric arteries as well. The authors present the history of a patient with known Buerger’s disease and acute ischemic stroke. Brain imaging detected acute and chronic ischemic lesions caused by middle cerebral non-athero...

International journal of public health, Jan 8, 2015

To test whether str oke features relate to living standard within one city by comparing 2 distric... more To test whether str oke features relate to living standard within one city by comparing 2 districts. District-8 (D-8) ranks the last, whereas District-12 (D-12) is the second regarding personal monthly income of the 23 districts of Budapest, Hungary. Stroke cases hospitalized in 2007 were identified by the database of the National Health Insurance Fund and postal codes for living address. Case certification was performed by personal visits to the general practitioners. Demographic data, risk factors and survival status in 2010 were analyzed using the anonymized database. Three-year case fatality was 36.6 % in D-8 and 31.5 % in D-12 (p = 0.24). Of the fatal cases, men were more than 12 years younger in D-8 than in D-12 (69.2 ± 13.3 vs. 82.4 ± 9.2 years, p < 0.001). Men died younger than women in D-8 (69.2 ± 13.3 vs. 75.2 ± 12.4; p = 0.036), but not in D-12 (82.4 ± 9.2 vs. 81.9 ± 7.3, p = 0.8). Non-treated hypertension, alcohol dependence, and smoking were significantly more preval...