Clinical Neuroscience

[Genetic significance of muscle enzymes]

LIPCSEY Attila1, SZABADI Elemér1, FEKETE Istvánné1

SEPTEMBER 01, 1969

Clinical Neuroscience - 1969;22(09)

[Enzyme assays were performed in patients with recessive x-linked dystrophia musculorum progressiva in four families and their family members. From a genetic point of view, the measurement of KFK activity is considered to be the most valuable. The method is well suited for the detection of vectors and in the preclinical phase of dystrophia musculorum progressiva.]

AFFILIATIONS

  1. Budapesti Orvostudományi Egyetem I. sz. Neurologiai és Psychiatriai Klinika

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Clinical Neuroscience

[The relationship between kappa rhythm and temporal paroxysms]

HASZNOS Tivadar

[By kappa rhythm, we mean the potentials induced by the 9-12/sec. count in the temporal derivation. The interpretation of kappa waves is still not uniform. Darow et al. and Kennedy et al. regard it as an artificial rhythm, or at least as a rhythm which is never considered as a separate temporal rhythm on its own. According to their hypothesis - and this is supported by a number of studies - intense mental work is accompanied by an increase in muscle tone, which would also entail, among other things, the vibration of the eye-coils, and the latter would manifest itself as a kappa rhythm. ]

Clinical Neuroscience

[Recent studies in panencephalitis II. Electrophysiological observations]

GOMBI Róza, ÓVÁRY Imre, GŐDÉNY Sára, SORSZEGI Pál, KAPPÉTER István, BENKŐ Károly

[Our electrophysiological observations are in agreement with the literature, according to which the Radermecker complex is a multifocal phenomenon, predominantly arising and manifesting in the cortex and at the border of the cortical white matter (Cobb 1966, Bogacz et al. 1959, etc.). This is suggested by the fact of multiple intracerebral phase reversals and the regional appearance or absence of complexes, which we observed in our patient. Intracerebral drainage has been performed very rarely in patients with panencephalitis, and the data obtained are similar to ours. Authors who have studied deep eletrography do not confirm the hypothesis of a thalamic - diencephalic origin of the complexes. In the opinion of Bogacz et al., the complexes are similar to the 'isolation complexes' (Garcia Austt et al. 1957) of partially or completely isolated cortex, in other words, to the 'suppression-burst' complexes (Henry and Scoville 1962). As the panencephalitic disease process progresses, neurons in the cortex and other structures become partially or completely deafferented, and there is a tendency and potential for hypersynchronous abnormal activity of deafferented cells after the loss of the tone or excitatory state necessary for normal function, provided by impulses from specific and non-specific pathways.]

Clinical Neuroscience

[Data for the assessment of pneumoencephalograms (Diencephalosis and ventricular dilatation)]

VÁRNAI György, PEKÁR Aranka, SZEGEDY László, HAITS Géza

[Authors analysed pneumoencephalography recordings of 270 unselected patients with identical radiological and approximately identical insufflation technique conditions for the correlation of lateral chamber index, ventricular index III, and absolute values of lateral chamber and ventricular dilatation III. In 49 of their 49 patients with the symptom complex of ,,diencephalosis" (,,hypothalamopathy"), isolated or prevalent III ventricular dilatation was found in 24.4% (12 patients), whereas in 20.3% (45 patients) of their 221 non-diencephalotic patients, the above findings were obtained. They analyse in detail the criteria for the evaluation of ventricular dilatation and urge caution regarding the resulting diagnostic conclusions.]

Clinical Neuroscience

[Polarographic studies from brain water]

MÁTYUS László, SCHÉDA Vilmos

[The authors performed qualitative protein analysis of cerebrospinal fluid from a Hungarian RADELKISZ-type polarograph in 158 patients. The criteria for normal curves were determined under the conditions described. An attempt was made to classify the abnormal curves and compare them with certain disease types. Lower than normal curves were obtained in endogenous psychoses and higher than normal curves in arteriosclerotic dementias, despite the fact that the protein content was within normal limits.]

Clinical Neuroscience

[Data on o-Toluidines and enzymatic liquor-sugar determination]

ÚJVÁROSI Imre, RUSZ Sándor

[From comparative tests of O-Toluidines and enzymatic CSF sugar determination, the values obtained with the two methods did not show any significant difference. Given circumstances and options dictate which method is used for routine testing. For experimental tests, the enzymatic method is the appropriate method.]

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Clinical Neuroscience

Late simultaneous carcinomatous meningitis, temporal bone infiltrating macro-metastasis and disseminated multi-organ micro-metastases presenting with mono-symptomatic vertigo – a clinico-pathological case reporT

JARABIN András János, KLIVÉNYI Péter, TISZLAVICZ László, MOLNÁR Anna Fiona, GION Katalin, FÖLDESI Imre, KISS Geza Jozsef, ROVÓ László, BELLA Zsolt

Although vertigo is one of the most common complaints, intracranial malignant tumors rarely cause sudden asymmetry between the tone of the vestibular peripheries masquerading as a peripheral-like disorder. Here we report a case of simultaneous temporal bone infiltrating macro-metastasis and disseminated multi-organ micro-metastases presenting as acute unilateral vestibular syndrome, due to the reawakening of a primary gastric signet ring cell carcinoma. Purpose – Our objective was to identify those pathophysiological steps that may explain the complex process of tumor reawakening, dissemination. The possible causes of vestibular asymmetry were also traced. A 56-year-old male patient’s interdisciplinary medical data had been retrospectively analyzed. Original clinical and pathological results have been collected and thoroughly reevaluated, then new histological staining and immunohistochemistry methods have been added to the diagnostic pool. During the autopsy the cerebrum and cerebellum was edematous. The apex of the left petrous bone was infiltrated and destructed by a tumor mass of 2x2 cm in size. Histological reexamination of the original gastric resection specimen slides revealed focal submucosal tumorous infiltration with a vascular invasion. By immunohistochemistry mainly single infiltrating tumor cells were observed with Cytokeratin 7 and Vimentin positivity and partial loss of E-cadherin staining. The subsequent histological examination of necropsy tissue specimens confirmed the disseminated, multi-organ microscopic tumorous invasion. Discussion – It has been recently reported that the expression of Vimentin and the loss of E-cadherin is significantly associated with advanced stage, lymph node metastasis, vascular and neural invasion and undifferentiated type with p<0.05 significance. As our patient was middle aged and had no immune-deficiency, the promoting factor of the reawakening of the primary GC malignant disease after a 9-year-long period of dormancy remained undiscovered. The organ-specific tropism explained by the “seed and soil” theory was unexpected, due to rare occurrence of gastric cancer to metastasize in the meninges given that only a minority of these cells would be capable of crossing the blood brain barrier. Patients with past malignancies and new onset of neurological symptoms should alert the physician to central nervous system involvement, and the appropriate, targeted diagnostic and therapeutic work-up should be established immediately. Targeted staining with specific antibodies is recommended. Recent studies on cell lines indicate that metformin strongly inhibits epithelial-mesenchymal transition of gastric cancer cells. Therefore, further studies need to be performed on cases positive for epithelial-mesenchymal transition.

Clinical Neuroscience

Atypical presentation of late-onset Sandhoff disease: a case report

SALAMON András , SZPISJAK László , ZÁDORI Dénes, LÉNÁRT István, MARÓTI Zoltán, KALMÁR Tibor , BRIERLEY M. H. Charlotte, DEEGAN B. Patrick , KLIVÉNYI Péter

Sandhoff disease is a rare type of hereditary (autosomal recessive) GM2-gangliosidosis, which is caused by mutation of the HEXB gene. Disruption of the β subunit of the hexosaminidase (Hex) enzyme affects the function of both the Hex-A and Hex-B isoforms. The severity and the age of onset of the disease (infantile or classic; juvenile; adult) depends on the residual activity of the enzyme. The late-onset form is characterized by diverse symptomatology, comprising motor neuron disease, ataxia, tremor, dystonia, psychiatric symptoms and neuropathy. A 36-year-old female patient has been presenting progressive, symmetrical lower limb weakness for 9 years. Detailed neurological examination revealed mild symmetrical weakness in the hip flexors without the involvement of other muscle groups. The patellar reflex was decreased on both sides. Laboratory tests showed no relevant alteration and routine electroencephalography and brain MRI were normal. Nerve conduction studies and electromyography revealed alterations corresponding to sensory neuropathy. Muscle biopsy demonstrated signs of mild neurogenic lesion. Her younger brother (32-year-old) was observed with similar symptoms. Detailed genetic study detected a known pathogenic missense mutation and a 15,088 base pair long known pathogenic deletion in the HEXB gene (NM_000521.4:c.1417G>A; NM_000521:c.-376-5836_669+1473del; double heterozygous state). Segregation analysis and hexosaminidase enzyme assay of the family further confirmed the diagnosis of late-onset Sandhoff disease. The purpose of this case report is to draw attention to the significance of late-onset Sandhoff disease amongst disorders presenting with proximal predominant symmetric lower limb muscle weakness in adulthood.

Journal of Nursing Theory and Practice

[Assessing Nurses’ Knowledge of Surgical Wound Care, Complications and Knowledge of Bandages]

FERENCZY Mónika, BÁLINT Beáta, KOMLÓSI Kálmánné, KARÁCSONY Ilona

[Aim of our research was to assess the knowledge of nurses working in surgical departments about surgical wound treatment, phases of wound healing, its complications, and intelligent bandages. Our quantitative, cross-sectional, descriptive examination was carried out in a hospital in Transdanubia with non-random, expert sampling and a self-made questionnaire. Our target group was nurses working in the surgical departments of the hospital (N=85). During the data analysis, the descriptive statistical methods of MS Office Excel 2016 software were calculated: mean, standard deviation, frequency. A χ2-test was used to examine the relationship between variables (p <0.05). Knowledge of bandages was not affected by educational attainment (p>0.05). Those who perform wound care in their daily work have more knowledge about the wound treatment sequence of the wounds that are primarily healing, as well as about intelligent dressings (p<0.1). For the classes, there was a significance for the recognition of complicated wounds, knowledge of the benefit of the absorbable suture and the use of analgesic procedures (p<0.001). In the interests of patient safety, nurses’ knowledge of wound treatment needs to be continuously improved. It is necessary to provide an accessible source of information and further training.]

Clinical Neuroscience

The effect of starting a meal with salt and date palm on taste impairment caused by COVID-19

ALTUN Yasar , BULBULOGLU Semra

This study was conducted to examine the effect of starting a meal with salt and date palm on the sense of taste in COVID-19 patients. This study was conducted using a randomized controlled method. Patient and disease information forms and Visual Analog Scale were used for data collection. Salt and date palm were used to stimulate the sense of taste in two different experimental groups. No procedure was made in the control group except for the practice of the clinic. The results were analyzed using SPSS version 25. The mean ages of all groups were between 43.42 ± 8.60 and 47.22 ± 12.04 years. Fever, sore throat, dry mouth, cough, muscle weakness, and similar symptoms were present in all groups. Significant improvements were found in patients with hypoageusia and ageusia after date palm and salt application (p<0.01). For taste impairment caused by COVID-19, consumption of date palm and tasting very little salt for therapeutic purposes may help to alleviate taste impairment. Based on the data obtained from this study, the pathophysiology of the effects of date palm and salt on taste complications should be investigated.

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.]