Clinical Neuroscience

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

KONCZ Júlia1, OROSZ Viktor2, SULYOK Zoltán3, ANDRÁS Emőke2, KÁDÁR Balázs4, OLÁH Csaba1,5

MARCH 30, 2021

Clinical Neuroscience - 2021;74(3-4)

DOI: https://doi.org/10.18071/isz.74.0129

[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 and the patients’ neurological condition were improved. Intravenous thrombolysis, acute carotid stenting with embolic filter protection device and mechanical thrombectomy with aspiration are effective treatments.]

AFFILIATIONS

  1. BAZ Megyei Központi Kórház és Egyetemi Oktató Kórház, Intervenciós Radiológia Osztály, Miskolc
  2. Markhot Ferenc Kórház, Neurológia Osztály, Eger
  3. BAZ Megyei Központi Kórház és Egyetemi Oktató Kórház, Neurológia Osztály, Miskolc
  4. BAZ Megyei Központi Kórház és Egyetemi Oktató Kórház, Aneszteziológia és Intenzív Terápiás Osztály, Miskolc
  5. BAZ Megyei Központi Kórház és Egyetemi Oktató Kórház, Idegsebészeti Osztály, Miskolc

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Clinical Neuroscience

[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 article, we summarize the available data of new SMA therapies in adult patients. Methods – Members of the Executive Committee of the Hungarian Clinical Neurogenetic Society surveyed the literature for palliative treatments, randomized controlled trials, and retrospective and prospective studies using disease modifying therapies in adult patients with SMA. Patients – We evaluated the outcomes of studies focused on treatments of adult patients mainly with SMA II and III. In this paper, we present our consensus statement in nine points covering palliative care, technical, medical and safety considerations, patient selection, and long-term monitoring of adult patients with SMA. This consensus statement aims to support the most efficient management of adult patients with SMA, and provides information about treatment efficacy and safety to be considered during personalized therapy. It also highlights open questions needed to be answered in future. Using this recommendation in clinical practice can result in optimization of therapy.]

Clinical Neuroscience

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 patients were hepatomegaly, splenomegaly, cholestasis and retardation in motor development. Patients 1 and 2 are twins, with homozygous mutation c.2776G>A p.(Ala926Thr) in NPC1 gene and severe lung involvement. Lung involvement, which is mostly associated with NPC2 gene mutation in the literature, was severe in our patients and they died early. In patients 3 and 4, there were respectively c.2972del p.(Gln991Argfs*6) mutation in NPC1 gene and c.133C>T p.(Gln45*) homozygous mutation in NPC2 gene. In these two patients, improvement in neurological findings were observed with treatment of miglustat. In our twin patients, severe lung involvement was observed. Two of our four early infantile Niemann-Pick type C patients exhibited neurological gains with miglustat treatment.

Clinical Neuroscience

[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 disease featuring severe limb-girdle and axial muscle weakness accompanied with respiratory insufficiency, in which enzyme replacement therapy (ERT) now has been available for 15 years. In our present study, patient reported outcome measures (PROMs) for individuals affected with Pompe disease were developed which included questionnaires assessing general quality of life (EuroQoL, EQ-5D, SF36), daily activities and motor performance (Fatigue Severity Score, R-PAct-Scale, Rotterdam and Bartel disability scale). Data were collected for three subsequent years. The PROM questionnaires were a good complement to the physician-recorded condition assessment, and on certain aspects only PROMs provided information (e.g. fatigue in excess of patients’ objective muscle weakness; deteriorating social activities despite stagnant physical abilities; significant individual differences in certain domains). The psychological effects of disease burden were also reflected in PROMs. In addition to medical examination and certain endpoints monitored by physicians, patient perspectives need to be taken into account when assessing the effectiveness of new, innovative treatments. With involvement of patients, information can be obtained that might remain uncovered during regular medical visits, although it is essential in determining the directions and priorities of clinical research. For all orphan medicines we emphasize to include patients in a compulsory manner to obtain general and disease-specific multidimensional outcome measures and use them as a quality indicator to monitor treatment effectiveness.]

Clinical Neuroscience

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 patients in the experimental group, 25% had moderate hyposmia, 58.3% had severe hyposmia, and 16.7% had anosmia prior to sniffing Turkish coffee. After sniffing the Turkish coffee, 13.3% of these patients regained their ability to smell normally, while 18.3% had mild hyposmia, 45% had moderate hyposmia, 6.7% had severe hyposmia, and 16.7% had anosmia. There was no difference in the control group between first and second measurement. COVID-19 patients who sniffed Turkish coffee intermittently regained some of their sense of smell for one hour. Turkish coffee is cheap, fragrant, widely available, and easy to access. Therefore, results of this study suggest that it may be recommended for treating olfactory disorder in COVID-19 patients.

Clinical Neuroscience

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 diagnostic capability of 14 stroke scales were investigated using receiver operating characteristic (ROC) analysis. Area under the curve (AUC) values of NIHSS, modified NIHSS, shortened NIHSS-EMS, sNIHSS-8, sNIHSS-5 and Rapid Arterial Occlusion Evaluation (RACE) scales were among the highest (>0.800 respectively). A total of 6 scales had cut-off values providing at least 80% specificity and 50% sensitivity, and 5 scales had cut-off values with at least 70% specificity and 75% sensitivity. Certain stroke scales may be suitable for discriminating an LVO in AIS. The NIHSS and modified NIHSS are primarily suitable for use in hospital settings. However, sNIHSS-EMS, sNIHSS-8, sNIHSS-5, RACE and 3-Item Stroke Scale (3I-SS) are easier to perform and interpret, hence their use may be more advantageous in the prehospital setting. Prospective (prehospital) validation of these scales could be the scope of future studies.

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[Transcranial Doppler monitoring of distal embolism during of carotid stenting]

SZIKRA Péter, VÖRÖS Erika, SZTRIHA László, SZÓLICS Alex

[INTRODUCTION - Reducing the risk of embolisation during endovascular treatment of internal carotid artery stenosis is very important. The rate of embolisation is affected by the different steps of stenting manipulation. Using transcranial Doppler equipment we studied the embolic signals during the different phases of carotid dilatation and stenting. MATERIAL AND METHOD - 50 patients (33 male, 17 female; mean age 64 years) were intraproceduraly monitorized with transcranial Doppler. Predilatation was necessary in nine cases, postdilatation was performed in 39 cases. The number of emboli were measured in seven different steps of endovascular treatment of carotid stenosis. Different type of commercial available endovascular devices were used. RESULTS - Intraprocedural embolisation was observed in every case. In different phases of carotid stenting the rate of embolisation showed marked differences in each phase of carotid stenting. Crossing the stenosis with stent delivery system were accompanied by a low rate of embolism (5.3) compared to the level during stent opening (9.16) and balloon dilatation (9.96). The highest level of embolisation was observed during predilatation (15.9) without the protection of the stent. CONCLUSIONS - We detected embolisation in all of the cases, however the number of embolic signals varied in different phases of carotid artery stenting. Embolisation can be reduced if the most dangerous steps (i.e. pre- and postdilatation) are avoided. Using TCD monitorisation the physician can be informed by the degree of embolisation that may alarm the interventionalist to perform the procedure more carefully, furthermore it can be employed during the training of carotid stenting.]

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