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Lege Artis Medicinae

OCTOBER 20, 2018

[Juvenile idiopathic arthritis: from diagnosis to treatment]

MOSDÓSI Bernadett

[Juvenile idiopathic arthritis is a heterogeneous group of diseases that is one of the most common chronic diseases of childhood. It begins before 16 years of age, the etiology is unknown, it is persisting for at least 6 weeks and other pathologic conditions could be excluded. Juvenile idiopathic arthritis includes several diseases categories, each of them have distinct methods of presentation, clinical symptoms, pathogenesis and treatment options. Recent advances in the understanding of the immunological pathogenesis of the diseases have led to dramatic improvements in treatment. Although the management is using a multidisciplinary approach, the disease often persist into adulthood and can cause significant long-term morbidity and physical disability. Our article discusses the classification, clinical manifestations, differential diagnosis, treatment and complications of juvenile idiopathic arthritis. ]

Clinical Neuroscience

JANUARY 30, 2018

Electroclinical and prognostic characteristics of epilepsy patients with photosensitivity

YAZAR Olgun Hülya, GUL Gunay, YAZAR Tamer, EREN Fulya, KUSCU Yandım Demet, KIRBAS Dursun

Background - Epilepsy with photosensitivity (PSE) is one of the reflex epilepsy types with pathophysiology still unexplained. In our study we aimed to evaluate the clinical, electroencephalogram (EEG) and prognosis of patients with PSE diagnosis. Method - A total of 44 patients with PSE diagnosis according to international classification were included in this retrospective and cross-sectional study. The age, gender, syndrome, clinical and EEG characteristics of patients, and treatment response were investigated. Results - The mean age was 22.09±6.49 years for 28 females and 16 males included in the study. Of patients, 17 had idiopathic photosensitive occipital lobe epilepsy (IPOLE), 11 had juvenile myoclonic epilepsy (JME), 11 had other PSE and 5 had juvenile absence epilepsy (JAE), with the most common visual trigger factors television and sunlight. In terms of seizure type, the most common was generalized tonic clonic seizure (GTCS), with myoclonus, absence and other seizure types observed. There was family history present in 17 patients and valproic acid was most commonly used for treatment. Conclusion - As noted in the literature, our data show that PSE has defined age group and clinical presentation, good prognosis but requires correct choice of medication for treatment. It is thought that good description of these epilepsy types will reduce misdiagnosis and mistreatment rates.

Clinical Neuroscience

JULY 30, 2017

[Valproate in the treatment of epilepsy and status epilepticus]

JANSZKY József, TÉNYI Dalma, BÓNÉ Beáta

[According to Hungarian guidelines, valproate - with the exception of infants and small children as well as fertile women - is the first drug of choice in generalized and unclassified epilepsies because it is effective in most seizure types and epilepsy syndromes. It is highly effective in juvenile myoclonic epilepsy. Even though it is not the first-line drug in focal epilepsies, if the first-line therapy is ineffective, it is a plausible alternative as second choice therapy, owing to its different mechanism of action. If the type of epilepsy can’t be surely established, valproate is the drug of choice, as it possesses the broadest-spectrum among antiepileptic drugs. After administration of benzodiazepines, intravenously applied valproate can be a first choice therapy in all types of status epilepticus, owing to its broad-spectrum and efficacy. Valproate is the first-choice therapy in patients with glioblastoma - independently of the seizure type -, as it is likely to improve the survival rate with 2-10 months and the effectivity of chemo- and radiotherapy. Valproate is generally not suggested for fertile women, but - as it is the most effective therapy in some epilepsy syndromes -, the patient has the right to choose valproate therapy, thus undertaking the elevated risk of developmental abnormalities, for higher safety regarding seizures. If only valproate therapy owns the ability to obtain seizure freedom, then stopping its administration is not suggested, but a low dosage has to be aimed (500-600 mg/day, but not more than 1000 mg/day): according to some studies, most idiopathic generalized epilepsies can be controlled by low valproate dosage. Stopping valproate therapy in case of an ongoing pregnancy is not suggested. ]

Clinical Neuroscience

NOVEMBER 30, 2011

[A8344G mutation of the mitochondrial DNA with typical mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes syndrome]

VASTAGH Ildikó, GÁL Anikó, REMÉNYI Viktória, SEMJÉN Judit, LUKÁCS Tímea

[We report an unusual case of juvenile ischaemic stroke syndrome associated with the A8344G mutation in tRNALys gene of mitochondrial DNA. The clinical phenotype of patient was typical for MELAS (mitochondrial ecephalomyopathy with lactate acidosis and stroke like episodes). The MELAS has been related to mutation A3243G in most cases, but some other mitochondrial DNA mutations were described in the background of this syndrome as well. A 22-years-old man and his family were investigated. Throughout clinical investigation as well as Doppler sonography, neuroradiological, and immunserological examinations were performed. Molecular studies included the analysis of the Leiden, prothrombin G20210A and the most common mitochondrial DNA mutations. The DNA analysis of the proband revealed a heteroplasmic A8344G substitution in the T-loop of the tRNALys gene. The mutation could not been detected in her mother blood. We can conclude that A8344G mutation of the mitochondrial DNA resulted in juvenile ischemic stroke, which is associated only rarely to this genetic alteration. In young age onset of a stroke-like episode with undetermined etiology the mtDNA alterations always have to be excluded.]

Lege Artis Medicinae

MARCH 21, 2009

[THE REAL FACE OF JUVENILE POLYPOSIS SYNDROME - MALIGNANCY IN A DISEASE PREVIOUSLY THOUGHT TO BE BENIGN]

TAM Beatrix, SALAMON Ágnes, BAJTAI Attila, NÉMETH Annamária, KISS János, SIMON László

[INTRODUCTION - The majority of colorectal cancer cases is sporadic, but familial and autosomal dominant forms should also be considered. Juvenile polyposis syndrome is an autosomal dominant condition caused by mutations in the SMAD4 or the BMPR1A gene. Typically, numerous hamartomatous polyps develop in the upper gastrointestinal and the colorectal area. In contrast to earlier opinions, some of these polyps may transform malignantly, like in the case presented here, at the age of 34-35 years on average. CASE REPORT - During the eighteen-year continuous care of the young man treated for juvenile polyposis, more than a hundred polyps were resected from the gastrointestinal tract. After an eigth-year intermission of surveillance because of insufficient compliance, the patient presented in a severe clinical condition caused by metastatic colorectal cancer. He died after a short palliative therapy at the age of 31. Based on the family tree, all of his living adult first-degree relatives were subsequently examined and juvenile polyposis syndrome was also diagnosed in his older brother. Genetic testing revealed a mutation in the BMPR1A gene in the clinically affected brother, one of his daughters, and also in the deceased probands child. CONCLUSION - Genetic testing made it possible to relieve the mutation-free relatives of the anxiety and particularly of a number of unnecessary, mainly invasive examinations, while mutation carriers can be given the best possible clinical surveillance.]

Clinical Neuroscience

JULY 30, 2006

[THE IMPACT OF MOOD ALTERATIONS ON CREATIVITY]

JANKA Zoltán

[Basic elements of artistic (and other) creativity are the technical-professional skill and knowledge, the special talent and ability and the willingness or motivation; one of which being absent results in partially realised creativities like juvenile, frustrated or abandoned types, respectively. Psychometric scales have been developed to measure everyday and eminent creativities, which show that creativity correlates with higher psychoticism, impulsivity and venturesomeness scores and with lower neuroticism and conformity scores of the personality test employed in a general population. Among the psychological components of creativity are the cognitive processes, mood, motivation, and personality traits. Regarding mood, a theory of “inverted U” has been proposed as elevation of mood facilitates creativity to a certain point after what extreme increase has an adverse effect on achievement. Analysing psychopathology and creativity among various professions, higher rates of psychopathology, especially affective symptoms, have been found in art-related professions. Examples of immortal poets, writers, painters, sculptors and composers, having created invaluable cultural treasures for the mankind, illustrate that many of them showed signs of mood alterations (unipolar or bipolar affective disorder spectrum) which were expressed in their artistic products.]

Clinical Neuroscience

JULY 22, 2009

[Pompe’s disease - Part I - Pathogenesis and clinical features]

ILLÉS Zsolt, TRAUNINGER Anita

[Pompe’s disease is an ultra-orphan disease caused by the deficiency of lysosomal alpha-glucosidase. At present, it is the only inherited muscle disorder, which can be treated by replacement of the enzyme. According to the natural course, early infantile and late childhood-juvenile-adult cases are known. Respiratory insufficiency, cardiomyopathy, and muscle hypotonia are cardinal symptoms/signs in infantile Pompe’s disease, while cardiomyopathy is absent in adult-onset cases. CK levels are always elevated in the sera of infantile patients. Hip-girdle dystrophy and orthopnoe should alert suspicion in adult patients. Diagnosis is established by decreased activity of the enzyme or mutational analysis. Muscle biopsy can be misleading in adult cases due to absence of glycogen in the examined specimen. In this review, we also discuss our experiences obtained by the treatment of three patients.]

Lege Artis Medicinae

FEBRUARY 21, 2004

[EYE DISORDERS ASSOCIATED WITH MUSCULOSKELETAL DISEASES]

VOGT Ferenc

[The diseases of connective tissue and musculoskeletal system frequently associated with typical eye disorders. These can either be mild, recovering fully after treatment or more serious with persisting symptoms and destructive changes resulting in permanent loss of sight Eye symptoms can occur in the following diseases: rheumatoid arthritis, juvenile chronic arthritis, neonatal onset multisystem disease, ankylosing spondylitis, seronegative spondarthrities, Reiter’s syndrome, Behçet’s syndrome, Lyme disease, systemic lupus erythematosus, scleroderma, polyarteritis nodosa, Wegener’s granulomatosis, giant cell arteritis, erythema nodosum, relapsing polychondritis, sarcoidosis, Marfan’s syndrome, osteogenesis imperfecta.]

Clinical Neuroscience

MAY 20, 2011

[Our clinical experience with zonisamide in resistant generalized epilepsy syndromes]

KELEMEN Anna, RÁSONYI György, NEUWIRTH Magdolna, BARCS Gábor, SZŰCS Anna, JAKUS Rita, FABÓ Dániel, JUHOS Vera, PÁLFY Beatrix, HALÁSZ Péter

[Purpose - Zonisamide is licensed in the European Union for adjunctive therapy for partial epilepsy, but its efficacy in generalized epilepsy was less explored. Methods - This prospective observational study included 47 patients (mean age 29 years, range 3-50) with different resistant generalized epilepsy syndromes: idiopathic generalized syndromes (IGE) 15 patients, (juvenile myoclonic epilepsy four, absence epilepsy four, myoclonic absence two, unclassified IGE five), progressive myoclonic epilepsy type 1 (PME1) four, severe myoclonic epilepsy of infancy (SMEI) three, borderline SMEI three, Lennox-Gastaut syndrome/secondary generalized epileptic encephalopties 23 patients. All patients were followed up for at least six months. The mean dose given was 367 mg/day (range 100-600 mg/day), the patients received at least one and no more than two concomitant AE. Response was defined as more than 50% seizure reduction or seizure freedom. Results - The best effect was achieved in PME one, all the patients were responders. Myoclonic seizures were reduced 80%, none of the patients had generalized tonic clonic (GTC) seizures. In two of the four patients all other antiepileptics were tapered of (including piracetam), so they were GTC seizure and almost myoclonia free on zonisamide only. Responder rates were in GEFS ± SME 62.5%, in resistant IGE 62.5%, and in epileptic encephalopathies 33.3% patients. Tolerance after initial efficacy developed in six patients. Adverse effects were mild: weight loss, somnolence and confusion were repeatedly reported. Three patients reported cognitive improvement. Conclusion - Clinical benefit of a broad spectrum antiepileptic zonisamide extends across seizure types, ages and epilepsy syndromes. The efficacy in PME proved to be excellent.]

Hungarian Immunology

FEBRUARY 15, 2004

[Diagnostic value of MRI in patients with juvenile dermatomyositis]

CONSTANTIN Tamás, PONYI Andrea, BALÁZS György, SALLAI Ágnes, DANKÓ Katalin, FEKETE György, KARÁDI Zoltán

[Diagnosis of juvenile dermatomyositis is based on the presence of proximal muscle weakness, characteristic skin lesions, muscle enzyme elevation in the serum, and may requires the performance of invasive procedures such as electromyography and/or muscle biopsy. Magnetic resonance imaging (MRI) is considered to be an objective non-invasive tool to detect muscle involvement for diagnosis as well as for follow-up studies. We report a case of a 12 years old girl with definitive juvenile dermatomyositis. She received glucocorticoid therapy and achieved remission of the disease. After a long-term relapse free period, she was presented with severe proximal muscle weakness and normal creatinine kinase levels. The laboratory studies did not reveal acute inflammation or infection. In this case MRI was diagnostic to the relapse of juvenile dermatomyositis, with an increased STIR (short tau inversion recovery) signal of proximal muscles. The muscle involvement detected by MRI correlated with functional ability. After she achieved clinical remission, further follow-up MRI scans demonstrated that the affected muscles had returned to normal signal intensity. Findings of dermatomyositis on MRI scans include increased signal intensity in the affected muscles, perimuscular edema, chemical-shift artifact, and increased signal intensity in subcutaneous tissue. MRI is a sensitive technique and proposed to be a good indicator for an early diagnosis of the disease. MRI may also help to guide the muscle biopsy and may enhance the sensitivity of histological examination. After completion of therapy, MRI may be used for monitoring the progress of the disease as signal intensity of affected muscles returns to normal. MRI is also helpful, if the diagnosis is suspected but has not been formally evaluated.]