Clinical Neuroscience - 2021;74(03-04)

Clinical Neuroscience

MARCH 30, 2021

[The importance of patient reported outcome measures in Pompe disease]

MOLNÁR Mária Judit, MOLNÁR Viktor, LÁSZLÓ Izabella, SZEGEDI Márta, VÁRHEGYI Vera, GROSZ Zoltán

[In recent decades it has become increasingly important to involve patients in their diagnostic and treatment process to improve treatment outcomes and optimize compliance. By their involvement, patients can become active participants in therapeutic developments and their observations can be utilized in determining the unmet needs and priorities in clinical research. This is especially true in rare diseases such as Pompe disease. Pompe disease is a genetically determined lysosomal storage... tovább »

Clinical Neuroscience

MARCH 30, 2021

The effect of sniffing Turkish coffee on olfactory disorders in COVID-19 patients: An experimental clinical study

BULBULOGLU Semra, ALTUN Yasar

The current study aimed to examine the effect of sniffing Turkish coffee on the sense of smell in COVID-19 patients. This study utilized the experiment-control method. Data were collected using a patient and disease information form and the Connecticut Chemosensory Clinical Research Center (CCCRC) Test. An experimental group of patients sniffed Turkish coffee, and the coffee’s effect on the patients’ sense of smell was examined. All data were analyzed using SPSS version 25 (IBM). Of the... tovább »

Clinical Neuroscience

MARCH 30, 2021

Single-hole, ruptured parenchymal arteriovenous fistula of the mesencephalon: not known vascular malformation of the brain or a posthemorrhagic entity?

KULCSÁR Zsolt, MACHI Paolo, VARGAS Isabel Maria, SCHALLER Karl, LOVBLAD Olof Karl

The subtypes of brain arteriovenous malformations, with direct, single-hole fistulas without co-existing nidus are not described as existing entities inside the brain parenchyma but on the pial surface. True parenchymal arteriovenous malformations present with nidal structure, even if they are small, whereas surface lesions may present a direct fistulous configuration. In this case of midbrain haemorrhage a direct arteriovenous fistula was detected at the level of the red nucleus between a... tovább »

Clinical Neuroscience

MARCH 30, 2021

[Treatment options for enormous carotid thrombus as a complication of SARS-CoV-2 infection]

KONCZ Júlia, OROSZ Viktor, SULYOK Zoltán, ANDRÁS Emőke, KÁDÁR Balázs, OLÁH Csaba

[In SARS-CoV-2 positive patients with corresponding neurological symptoms the presence of carotid bifurcation macrothrombus should always be considered. Hypercoagulopathy caused by viral endotheliitis, systemic inflammation and cytokine storm play an important role in its development. Here we present two patients treated with different treatment strategies because of carotid bifurcation macrothrombus as a complication of SARS-CoV-2 infection. In both cases, the soft macrothrombus was eliminated... tovább »

Clinical Neuroscience

MARCH 30, 2021

Cause of recurrent rhabdomyolysis, carnitine palmitoyltransferase II deficiency and novel pathogenic mutation

ÇAKAR Emel Nafiye, GÖR Zeynep, YEŞIL Gözde

Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal inherited metabolic disorder in which the β-oxidation of the long chain fatty acids is defective. The clinical presentation may be in various forms; it presents itself in the severe form during neonatal and infantile periods and as the less severe myopathic form in the school age and adolescence. While the severity of the rhabdomyolysis attacks varies, occasionally the clinical course may be complicated with acute renal... tovább »

Clinical Neuroscience

MARCH 30, 2021

Possible genotype-phenotype correlations in Niemann-Pick type C patients and miglustat treatment

ÇAKAR Emel Nafiye, ÖNAL Hasan

Niemann-Pick type C is a rare lysosomal storage disease caused by impaired intracellular cholesterol transport. The autosomal recessive disease is caused by mutations in NPC1 or NPC2 genes. Clinical-laboratory features, genotype-phenotype correlation and miglustat treatment response of our patients diagnosed with early infantile Niemann-Pick type C were evaluated. In this article, four Niemann-Pick type C patients diagnosed in the early infantile period are presented. Common features of our... tovább »

Clinical Neuroscience

MARCH 30, 2021

hirdetés

[Consensus statement of the Hungarian Clinical Neurogenic Society about the therapy of adult SMA patients]

BOCZÁN Judit, KLIVÉNYI Péter, KÁLMÁN Bernadette, SZÉLL Márta, KARCAGI Veronika, ZÁDORI Dénes, MOLNÁR Mária Judit

[Background – Spinal muscular atrophy (SMA) is an autosomal recessive, progressive neuromuscular disorder resulting in a loss of lower motoneurons. Recently, new disease-modifying treatments (two drugs for splicing modification of SMN2 and one for SMN1 gene replacement) have become available. Purpose – The new drugs change the progression of SMA with neonatal and childhood onset. Increasing amount of data are available about the effects of these drugs in adult patients with SMA. In this... tovább »

Clinical Neuroscience

MARCH 30, 2021

[Psychometric properties of the Hungarian Adult Attachment Scale]

ŐRI Dorottya, KAPORNAI Krisztina, BAJI Ildikó, KISS Enikő

[The revised Adult Attachment Scale (AAS) developed by N. L. Collins is a widely used questionnaire to measure adult attachment. However, its psychometric properties have not been investigated in Hungary. We aimed to confirm the key psychometric properties of the Hungarian version of the AAS focusing on reliability indices on a population that consis­ted of depressed and non-depressed young adults. The AAS is a self-report questionnaire, in which two different dimensional evaluating systems... tovább »

Clinical Neuroscience

MARCH 30, 2021

Capability of stroke scales to detect large vessel occlusion in acute ischemic stroke – a pilot study

TÁRKÁNYI Gábor, KARÁDI Nozomi Zsófia, CSÉCSEI Péter, BOSNYÁK Edit, FEHÉR Gergely, MOLNÁR Tihamér, SZAPÁRY László

Rapid changes of stroke management in recent years facilitate the need for accurate and easy-to-use screening methods for early detection of large vessel occlusion (LVO) in acute ischemic stroke (AIS). Our aim was to evaluate the ability of various stroke scales to discriminate an LVO in AIS. We have performed a cross-sectional, observational study based on a registry of consecutive patients with first ever AIS admitted up to 4.5 hours after symptom onset to a comprehensive stroke centre. The... tovább »