Coronary artery fistula in a 70 year-old woman with myocardial infarction

Coronary artery fistulas are infrequent congenital malformations. We present the case of a patient with acute coronary syndrome and fistula between the proximal left anterior descending artery (LAD) and the pulmonary artery. The fistula was diagnosed during coronary angiography. Its presence and morphology was confirmed by a 64-slice computer tomography scan. The patient underwent a successful coronary artery bypass grafting procedure with surgical closure of the fistula.     

Brain metastases in paediatric patients: characteristics of a patient series and review of the literature

In contrast to the occurrence of brain metastases advanced malignant tumours in adult cancer patients, the dissemination of solid tumours to the brains of paediatric cancer patients is very uncommon. We present a neuro-pathological and clinical study of a group of children and adolescents with brain metastases (BM) from extracranial solid malignancies. The analysed patients were diagnosed with soft tissue sarcomas (three), germ cell tumours (three), or osteosarcoma, neuroblastoma, clear cell sarcoma of the kidney, or pleuropulmonary blastoma (one each). In our series, BM frequently coexisted with pulmonary metastases. Three different metastatic patterns were discernible: a solitary tumour, multiple lesions and diffuse parenchymal dissemination. Two cases showed haemorrhagic presentation. Most of the children died due to BM progression, while children with germ cell tumours showed the best prognosis. The histopathological pictures of BM can be different from the primary tumour, showing dedifferentiation or a diverse neoplastic component. The autopsy examination can still be helpful in the final diagnosis of certain cases with atypical clinical presentations.     

Bilateral subthalamic nucleus stimulation in the treatment of advanced Parkinson's disease. Five years' personal experience

Background and purposeThe objective of the study was to assess bilateral subthalamic nucleus (STN) deep brain stimulation (DBS) for patients with advanced Parkinson disease (PD).Material and methodsThe study population included 5 patients with bilateral STN DBS who completed a 5-year postoperative follow-up period. In all patients electrodes (Model 3387 or 3389) were stereotactically bilaterally inserted into the STN using a Leksell stereotactic G frame. The clinical rating tests included Unified Parkinson's Disease Rating Scale (UPDRS) and two motor-timed tests derived from CAPIT (rapid movements between two points and stand-walk-sit test). All patients were assessed in off and on condition before implantation and 1, 3 and 5 years in medication on and off condition and stimulation on condition and stimulation off condition. To compare preoperative to postoperative UPDRS scores, only mean values and standard deviations are presented because of the small study population.ResultsThe stimulation effect was noted in the off state, resulting in a 59% improvement in motor scores of UPDRS at 5-year follow-up, when compared to preoperative scores. In the on state the stimulation improved motor scores by 17%. At 5-year follow-up, reduction of daily levodopa dose was 50%.ConclusionsBilateral STN DBS is an effective and safe treatment for patients with advanced PD. Bilateral STN DBS contributes to improvement of parkinsonian symptoms in the off state and levodopa-induced dyskinesia. This can be correlated with a 50% reduction of daily levodopa dose 5 years postoperatively.     

Fetal D gene in maternal plasma should be examined in all immunized Rh(-) pregnant women to avoid invasive procedures

We have recently developed and published a noninvasive determination of fetal RhD status by examination of cell-free DNA in maternal plasma. The predictive value of the procedure of fetal testing, already published by us, was 99,6%. AIM: To assess the necessity of RhD fetal testing in immunized Rh(-) mothers with Rh(+) partners. MATERIAL: Rh(-) mothers with anti-D antibodies, their partners and children. METHODS: Molecular: RHD gene examination by real-time polymerase chain reaction; analysis of control genes present in the father but not in the mother. Serological: titre of anti-D antibodies, Rh phenotypes. RESULTS: Among 53 Rh(+) partners of immunized Rh(-) pregnant women, 56,6% were homozygous and 43,6%--heterozygous. The latter ones might have had either Rh(+) or Rh(-) children; in fact, in 52,2% of fetuses the D gene was not detected. Among fetuses of homozygous fathers (based on their phenotypes) 2 fetuses, to our surprise, occured to be Rh(-); however the subsequent genotyping showed that both fathers were heterozygous. The titres of anti-D in both groups of mothers with Rh(-) and Rh(+) fetuses were very similar. CONCLUSIONS: The examination of fetal D gene by noninvasive method should be performed in each alloimmunised Rh(-) mother if her partner is Rh(+). The prediction of RhD fetal status based on the fathers phenotype can be misleading, thus may result in unnecessary invasive method.     

Prenatal diagnosis of Beckwith-Wiedemann syndrome in third trimester

AIM OF THE STUDY: The aim of the study was to analyze prenatally recognized cases of Beckwith-Wiedemann syndrome (BWS) and further follow-up. We report the most common features which can help in prenatal diagnosing of that condition. MATERIAL AND METHODS: 3 fetuses diagnosed with BWS, referred for echocardiographic evaluation had been examined in referral centre from 2003-2005. RESULTS: Mean gestational age at the diagnosis was 31 week. During ultrasound evaluation characteristic features were recognized: macrosomy, macroglossia, nephromegaly in all cases, polyhydramnion was associated in 2 cases. No congenital heart defect and any functional changes were found during ECHO. In one case prenatal karyotyping was performed and revealed normal karyotype. Postnatal karyotyping in remain two cases was normal in one and abnormal in second case (Moz 46XX (13/46XX-18, +MAR5). CONCLUSIONS: 1. Prenatal diagnosis of Beckwith-Wiedemann syndrome can be obtained based on characteristic ultrasound features in the third trimester. 2. Most common features of BWS diagnosed in prenatal ultrasound included: macrosomy, macroglossia, visceromegaly and polyhydramnios. 3. In utero diagnosis is important for further mode and time of delivery planning, also neonates' clinical condition directly after delivery and long-term postnatal prognosis. 4. Karyotyping is recommened in all cases of BWS.     

Genetic syndrome, most likely vascular type of Ehlers-Danlos syndrome, in a 14-years old boy with extrapyramindal symptoms dominating the early childhood and growth failure

INTRODUCTION: The Ehlers-Danlos Syndrome (EDS) is a heterogeneous group of rare genetic disorders with various clinical features, which result from faulty collagen structure or disturbances in collagen synthesis. THE CASE STUDY: The Ehlers-Danlos Syndrome was diagnosed in patient at the age of 7 as easy bruising and tearing of the skin with scars being left afterwards and spontaneous ruptures of skin's blood vessels were observed. In earlier years extrapyramidal symptoms, which were dominating the clinical picture, perinatal complications and delayed psychomotor development led to a suggestion of the infantile cerebral palsy. Growth failure and low bone mass are also observed in this patient. CONCLUSION: Diverse symptoms can occur in patients with EDS, so all of them must be included into diagnostics and treatment. In the vascular type of EDS the biggest fear is about some rupture of a major blood vessel or an internal organ (bowels etc.), so educating the patient and his/hers family, especially about everyday physical activity, plays a very important role.     

The dry eye syndrome in children with juvenile idiopatic arthritis

PURPOSE: The aim of the study was to evaluate the dry eye syndrome in children with juvenile idiopathic arthritis (JIA), and its relation to the immunological markers of the JIA (antynuclear antybodies ANA and rheumatoid factor RF). MATERIAL AND METHODS: The study included 62 children with JIA. The age of patients during the first ophthalmic examination ranged from 9 to 18 years (62 children). A control group consisted of 49 healthy children. The time of observation was 18 months during which the children and adolescents were subjected to complex ophthalmic examinations (including a history of eye discomfort and Schirmer and BUT tests), in the intervals of 9 months. The diagnosis towards dry eye syndrome was made (including a history of eye discomfort and Schirmer and BUT tests). RESULTS: The majority of children with JIA complained of discomfort in the eyes. The difference appeared to be statistically significant between the group of children with JIA and the control group in the range of 5 features. The results of Schirmer test were found to be inadequate in 7 children (13%) and of BUT test in 9 children (15%). In total, inadequate results of Schirmer and/or BUT tests and a high score of discomfort evaluation were detected in 11 patients (17.7%). CONCLUSIONS: 1. The dry eye syndrome may occur in the course of JIA in children without any distinct clinical signs, resulting in subjective symptoms and decreasing the quality of life. 2. No correlation between immunological markers of the JIA and ocular changes was observed.