Urinary titin in myotonic dystrophy type 1.

INTRODUCTION/AIMS: Urinary titin, an easy-to-obtain marker, has been investigated in muscular dystrophies, but not in myotonic dystrophy type 1 (DM1). We investigated the role of titin as a biomarker of muscle injury in DM1. METHODS: We compared the urinary titin N-fragment/creatinine ratio in 29 patients with DM1 vs. 30 healthy controls. We also recorded clinical data such as muscle strength, serum creatine kinase, DM1-related outcome measures, and the 20-item DM1-activ questionnaire. The severity of the disease was graded using the Muscular Impairment Rating Scale (MIRS). RESULTS: The titin/creatinine ratio was significantly higher in the urine samples of DM1 patients than of healthy controls (median ± mean absolute deviation [MAD]: 39.313 ± 26.546 vs. 6.768 ± 5.245 pmol/mg creatinine; P < .001), and was related to muscle impairment graded by MIRS (τ = 0.503, P = .038). DISCUSSION: Urinary titin may be a biomarker for DM1. Long-term follow-up of DM1 patients is needed to investigate the potential role of titin as a biomarker for disease activity and progression.

[Development of new magistral method for the preparation of artificial tears]. / Korszeru tartósítási módszer fejlesztése magisztrálisan eloállítható mukönnyhöz.

Nowadays, large part of the population in Hungary is affected by the dry eye disease or symptom. Most of these magistral pharmaceuticals (FoNo VI) compared to the industrial products have disadvantages. They are not compatible with contact lenses, because of the preservatives and after opening they can be used only for seven days. In our experiments we used sodium-perborate as preservative, which could be a solution for the problems mentioned above. Our results indicate that the sodium-perborate sterilized the solution and resists against microbiological contamination. Its preservative effect maintained for more than four weeks. Our further purpose is to develop a new pharmacy drug preparation method to find an effective solution for the microbiological stability-related problems of artificial tears.

[Risk factors for ischaemic stroke in myotonic dystrophy type 1]. / Az ischaemiás stroke kockázati tényezoi a dystrophia myotonica 1-es típusában.

INTRODUCTION: Myotonic dystrophy is one of the most common autosomal dominant inherited muscular diseases. In both subtypes, not only the musculoskeletal system but other organs are also affected as a result of mis-splicing of several messenger RNAs leading to the production of dysfunctional proteins. Cataract, reduced pulmonary capacity, rhythm disorders, glucose intolerance, dyslipidaemia, endocrinopathies and cognitive impairment are also obtained in patients with myotonic dystrophy. OBJECTIVE: We aimed to assess the risk factors of ischaemic stroke in our patients. METHOD: After a detailed review of the patients' medical history, laboratory and clinical tests and a carotid ultrasound examination were performed. RESULTS: We found atherogenic dyslipidaemia, high risk of cardiogenicembolism, and normal carotid artery intimal media thickness. DISCUSSION: Our result can suggest the role of atrial fibrillation and other supraventricular rhythm disorders as important risk factors for ischemic stroke in patients with myotonic dystrophy. CONCLUSION: During the longitudinal follow-up of the patient population suffering from dystrophia myotonica type 1, special attention must also be paid to cardiology care. Orv Hetil. 2022; 163(49): 1962-1966.

Successful termination of ventricular arrhythmias with implantable cardioverter defibrillator in a patient with myotonic dystrophy / Implantálható kardioverter-defibrillátor által sikeresen megszüntetett malignus kamrai ritmuszavar dystrophia myotonicában szenvedo betegben.

Összefoglaló. A dystrophia myotonica (DM) multiszisztémás, autoszomális domináns módon öröklodo, többségében felnottkori izombetegség, melynek incidenciája 1 : 8000. A betegség kapcsán fellépo izomszöveti degeneráció a harántcsíkolt izomszövet átépülése mellett a szívizomszövetet is érinti, ami fontos oki szerepet játszik az érintett betegek csökkent várható élettartamában. A DM-ben szenvedok halálozásának közel egyharmadáért a cardiovascularis okok tehetok felelossé. Esetriportunkban egy 52 éves, korábban kritikus bradycardia és I. fokú atrioventricularis blokk miatt pacemakerimplantáción átesett, DM-mel diagnosztizált nobeteg kardiológiai utánkövetését mutatjuk be. A hirtelen szívhalál rizikóstratifikációja céljából elvégzett invazív elektrofiziológiai vizsgálat során kamrafibrilláció lépett fel, így a korábban implantált pacemakerelektródák mellé sokkelektróda került beültetésre, a pacemakerkészüléket implantálható kardioverter-defibrillátorra (ICD) cseréltük. Az 1 éves ICD-kontrollvizsgálat során azt találtuk, hogy a beültetés óta 22, tartós kamrai tachycardiával járó epizód lépett fel, melyek közül a készülék valamennyit sikeresen terminálta. Az eset bemutatásával szeretnénk rámutatni arra, hogy a magas cardiovascularis rizikócsoportba tartozó DM-betegek azonosítása kiemelkedo fontosságú lehet a hirtelen szívhalál megelozése érdekében. Orv Hetil. 2021; 162(46): 1856-1858. Summary. Myotonic dystrophy (DM) is one of the most frequent adulthood diseases of the skeletal muscles, which develops multisystemic features and shows autosomal dominant trait. In DM, tissue degeneration affects not only the skeletal, but the cardiac muscle, too. In one third of the patients, the cause of death is of cardiac origin. We report on our patient's case, who was diagnosed with DM at the age of 52, in whom episodes of critical bradycardia with first-degree atrioventricular block was detected, resulting in a pacemaker implantation. Invasive cardiac electrophysiological study was performed, during which ventricular fibrillation was registered. A shock electrode was added to the previously implanted pacemaker, enabling defibrillation in case of detection of a sustained ventricular arrhythmia. During the 1-year follow-up, 22 episodes of sustained ventricular tachycardia were identified, with the device successfully terminating the malignant arrhythmias. Our case shows that electrophysiological study and the succeeding implantation of an implantable cardiac defibrillator is highly important in identifying and terminating ventricular arrhythmias in high-risk DM patients. Orv Hetil. 2021; 162(46): 1856-1858.

Assessment of two prophylactic fluid strategies in aneurysmal subarachnoid hemorrhage: A randomized trial.

OBJECTIVE: To compare the effect of two prophylactic euvolemic fluid strategy regimens on the incidence of cerebral vasospasm and clinical outcomes in patients with aneurysmal subarachnoid hemorrhage (SAH). METHODS: Ninety-six patients with a basal intravenous intake of 15 mL/kg/day of Ringer's lactate solution were included, and an additional 15 to 50 mL/kg/day Ringer's lactate (RL-group) or hydroxyethyl starch 130/0.4 solution (HES-group) was administered to maintain the targeted mean arterial pressure. The primary end point was the occurrence of cerebral vasospasm during the first 14 days. The secondary end points were case fatality, Barthel's index, and Glasgow Outcome Scores (GOS) at 30 days after SAH. RESULTS: Cerebral vasospasm developed in 42 patients (43.7%), and nine of these events were severe. The vasospasm rate among the RL- and HES-based groups was 25/48 and 17/48, respectively. For the secondary endpoint, four patients (4%) died by the end of follow-up (two in each group). Unfavorable outcome cases were not different in the RL and HES groups (9 vs. 14, respectively). There was no difference between the Barthel's scores at 30 days between the two groups. CONCLUSIONS: Using starches in a prophylactic treatment strategy in aneurysmal SAH in not supported by the study.The trial was registered at Clinicaltrials.gov under the number NCT02064075.

[Multiorgan manifestations in myotonic dystrophy type 1]. / A dystrophia myotonica 1-es típusának sokszervi megjelenése.

Myotonic dystrophy is one of the most common, autosomal dominantly inherited adult-onset muscle disorders. Two types of the disease are known: type 1 is characterized by distal weakness and myotonia, but type 2 is associated with proximal weakness and milder clinical course. It is also called as Steinert Disease, which affects the heart conduction system, the internal secretional glands, the ocular lens as well as carbohydrate-, fat metabolism and gonadal functions. These systemic symptoms have high impact on the quality of life and might impact on patients' survival. Here we would like to emphasize these clinical conditions and the diagnostic possibilities. We hope our recommendations can help neurologists and general practitioners to achieve an optimal and individual care for patients suffering from this muscle disease. Orv Hetil. 2019; 160(37): 1447-1454.