Clinical Neuroscience

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

TÁRKÁNYI Gábor1, KARÁDI Nozomi Zsófia1, CSÉCSEI Péter1, BOSNYÁK Edit1, FEHÉR Gergely2, MOLNÁR Tihamér3, SZAPÁRY László1

MARCH 30, 2021

Clinical Neuroscience - 2021;74(3-4)

DOI: https://doi.org/10.18071/isz.74.0099

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.

AFFILIATIONS

  1. Department of Neurology, University of Pécs, Pécs
  2. Centre for Occupational Medicine, University of Pécs, Pécs
  3. Department of Anaesthesiology and Intensive Therapy, University of Pécs, Pécs

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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

[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.]

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

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[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

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 failure. Acylcarnitine analysis may help in the diagnosis of CPT II, but its normality does not indicate the absence of the disease. If there is strong suspicion, genetic analysis should be performed on the cases. In this article, we present a 15-year-old male patient who had two rhabdomyolysis attacks triggered by infection and starvation. Acylcarnitine analysis of the case was normal, CPT II deficiency was considered when the history was evaluated, and CPT II gene c.137A>G (p.Gln46Arg) homozygous novel pathogenic mutation was detected. CPT II deficiency is one of the most common causes of metabolic rhabdomyolysis in patients with recurrent episodes of rhabdomyolysis.

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Clinical Neuroscience

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Clinical Neuroscience

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Clinical Neuroscience

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Introduction - The therapeutic time window of acute stroke is short. Decision on the use of intravenous thrombolysis is based on well-defined criteria. Any delay in the transport to a designated stroke centre decreases the odds of therapeutic success. In Hungary, the admission rate of stroke patients peaks on Monday, the number gradually decreasing by the end of the week. This phenomenon has long been suggested to be due to the lack of emergency care approach. According to the literature, however, returning to work following a holiday is a risk factor for acute stroke. A similar phenomenon is well-known in veterinary medicine, a condition in horses referred to as ‘Monday morning disease’. In our study, we analysed the distribution of admissions due to acute stroke by the day of the week in 4 independent data sources. Patients and methods - The number of patients admitted to the Szent János Hospital, Budapest, Hungary with stroke and that of emergency ambulance transports in the whole city of Budapest due to acute stroke were analysed in the period between January 1 and March 31, 2009. The distribution of thrombolytic interventions reflecting hospitalizations for hyperacute stroke was analysed based on data of the Szent János Hospital in 2009-2012, and on national data from 2006-2012. Descriptive statistics was used to present the data. The variation between daily admission was compared by chi-square test. Results - The proportion of daily admission of stroke patients admitted to the Szent János Hospital was the highest at the beginning of the week (18% on Monday, and 21% on Tuesday) and the lowest on the weekend (9% and 9% on Saturday and Sunday, respectively). The distribution of ambulance transports in Budapest due to acute stroke tended to be similar (15% and 15% on Monday and Tuesday, whereas 13% and 12% on Saturday and Sunday, respectively) on different days of the week. No such Monday peak could be observed in a single centre regarding thrombolytic interventions: 18% and 19% of the total of 80 thrombolytic interventions in the Szent János Hospital were performed on Monday and Sunday, respectively. At the national level the higher Monday rate is obvious: during a 7-year period 16.0%, 12.7%, and 13.5% of all thrombolytic interventions in Hungary were performed on Monday, Saturday and Sunday, respectively. Conclusion - Monday preference of stroke is not exclusively caused by the lack of emergency care approach, and the phenomenon is not consistent at the individual hospital level in cases undergoing thrombolysis.

Clinical Neuroscience

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