Genomes and Genes
Experts and Doctors on magnetic resonance imaging in Warsaw, Masovian Voivodeship, Poland
Locale: Warsaw, Masovian Voivodeship, Poland
Topic: magnetic resonance imaging
- Adamczyk M, Bulski T, Sowińska J, Furmanek A, Bekiesinska Figatowska M. Trigeminal nerve - artery contact in people without trigeminal neuralgia - MR study. Med Sci Monit. 2007;13 Suppl 1:38-43 pubmed..Contact between a trigeminal nerve root and an artery in the prepontine cistern is a frequently seen anatomical variant. Therefore, detection of such a variant is not equivalent to finding the cause of a patient's complaints. ..
- Mierzewska H, Mierzewska Schmidt M, Salomons G, Dudzińska M, Szczepanik E. Alexander disease - astrogliopathy considered as leukodystrophy - experience of an institution. Dev Period Med. 2016;20:110-7 pubmed..Molecular analysis performed in four cases confirmed mutations of GFAP gene; all mutation were de novo. The role of astroglia in brain is shortly reviewed. ..
- Członkowska A, Gromadzka G, Chabik G. Monozygotic female twins discordant for phenotype of Wilson's disease. Mov Disord. 2009;24:1066-9 pubmed publisher..Her sister remained clinically presymptomatic at diagnosis at the age of 28. We concluded that the phenotypic characteristics of WD are possibly attributable to epigenetic/environmental factors. ..
- Cwikła J, Buscombe J, Caplin M, Watkinson A, Walecki J, Gorczyca Wiśniewska E, et al. Diagnostic imaging of carcinoid metastases to the abdomen and pelvis. Med Sci Monit. 2004;10 Suppl 3:9-16 pubmed..Combining the results of MR and SRS in evaluating the extent of the carcinoid disease seems to represent higher diagnostic value than relying on one of this method in combination with CT images. ..
- Kobayashi A, Wardlaw J, Lindley R, Lewis S, Sandercock P, Czlonkowska A. Oxfordshire community stroke project clinical stroke syndrome and appearances of tissue and vascular lesions on pretreatment ct in hyperacute ischemic stroke among the first 510 patients in the Third International Stroke Trial (IST-3). Stroke. 2009;40:743-8 pubmed publisher..The utility of the classification may further increase if IST-3 establishes that the OCSP syndrome significantly modifies response to thrombolytic therapy. ..
- Wlodarska E, Konka M, Zaleska T, Ploski R, Cedro K, Pucilowska B, et al. Arrhythmogenic right ventricular cardiomyopathy in two pairs of monozygotic twins. Int J Cardiol. 2005;105:126-33 pubmed..No differences in previous viral infections and sports involvement were observed. 1. Clinical picture of ARVC in monozygotic twins is not identical. 2. Strenuous effort may be a factor triggering the arrhythmia in pts with ARVC. ..
- Płomiński J, Borcz K, Kwiatkowski K, Zabicka M. Fixation of patellar tendon bone graft in reconstruction of patellar ligaments. Comparison of bioabsorbable and metal interference screws--results of treatment. Ortop Traumatol Rehabil. 2008;10:44-53 pubmed..The clinical signs of a foreign body reaction were found in one patient. Bioabsorbale and metal interference screws produce equal clinical results. Complete degradation of a bioabsorbable screw takes 2-3 years. ..
- Zielinski G, Maksymowicz M, Podgórski J, Olszewski W. Double, synchronous pituitary adenomas causing acromegaly and Cushing's disease. A case report and review of literature. Endocr Pathol. 2013;24:92-9 pubmed publisher..Additionally, a review of the literature regarding multiple pituitary adenomas has also been performed. ..
- Trubicka J, Filipek I, Iwanowski P, Rydzanicz M, Grajkowska W, Piekutowska Abramczuk D, et al. Constitutional mosaicism of a de novo TP53 mutation in a patient with bilateral choroid plexus carcinoma. Cancer Genet. 2017;216-217:79-85 pubmed publisher..Our results highlight the utility of high-throughput technologies in detection of potentially important genetic markers. ..
- Jozwiak S, Nabbout R, Curatolo P. Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): Clinical recommendations. Eur J Paediatr Neurol. 2013;17:348-52 pubmed publisher..This report summarizes the clinical recommendations for the management of SEGA made by a panel of European experts in March 2012. Current treatment options and outstanding questions are outlined...
- Bogdańska M, Bodnar M, Piotrowska M, Murek M, Schucht P, Beck J, et al. A mathematical model describes the malignant transformation of low grade gliomas: Prognostic implications. PLoS ONE. 2017;12:e0179999 pubmed publisher..We discuss the relationship between patient prognosis and model parameters. We approximate tumour radius and velocity before malignant transformation as well as estimate the onset of this process. ..
- Demkow M, Biernacka E, Spiewak M, Kowalski M, Siudalska H, Wolski P, et al. Percutaneous pulmonary valve implantation preceded by routine prestenting with a bare metal stent. Catheter Cardiovasc Interv. 2011;77:381-9 pubmed publisher..003). All patients completed 6-month follow-up. No stent fractures were observed. PPVI with routine prestenting with BMS is a safe and effective method of treatment in patients with repaired CHD. ..
- Nawara M, Klapecki J, Borg K, Jurek M, Moreno S, Tryfon J, et al. Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family. Am J Med Genet A. 2008;146A:3167-72 pubmed publisher..With the development of new methods (aCGH, MLPA), further rearrangements in this gene (including deletions and duplications) might be discovered in the nearest future. ..
- Duczkowska A, Bekiesinska Figatowska M, Herman Sucharska I, Duczkowski M, Romaniuk Doroszewska A, Jurkiewicz E, et al. Magnetic resonance imaging in the evaluation of the fetal spinal canal contents. Brain Dev. 2011;33:10-20 pubmed publisher..The cases of diastematomyelia, myelomeningocele, tethered cord, caudal regression syndrome, anterior meningocele, cystic sacrococcygeal teratoma and syringohydromyelia are demonstrated...
- Bekiesiñiska Figatowska M, Rokicki D, Walecki J. MRI in nonketotic hyperglycinaemia: case report. Neuroradiology. 2001;43:792-3 pubmed..We present a girl with proven nonketotic hyperglycinaemia. The pathological findings on MRI were brain atrophy with thinning of the corpus callosum and delayed myelination of the cerebral hemispheres, particularly the parietal lobes...
- Chmielik L, Frackiewicz M, Krajewski R, Woloszczuk Gebicka B, Chmielik M. Perioperative problems and treatment of a teenager with a juvenile angiofibroma refusing blood transfusion. Int J Pediatr Otorhinolaryngol. 2009;73:689-92 pubmed publisher..According to the latest research, juvenile angiofibroma is regarded as a developmental defect, affecting the embryonic vascular network surrounding the sphenoid bone...
- Jurecka A, Jurkiewicz E, Tylki Szymanska A. Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature. Eur J Pediatr. 2012;171:131-8 pubmed publisher..Greater awareness of adenylosuccinate lyase deficiency among general pediatricians, neonatologists, pediatric neurologists, and also radiologists is the key to identifying the disorder at an early stage. ..
- Grabowska A, Marchewka A, Seniow J, Polanowska K, Jednorog K, Krolicki L, et al. Emotionally negative stimuli can overcome attentional deficits in patients with visuo-spatial hemineglect. Neuropsychologia. 2011;49:3327-37 pubmed publisher..Our results point to the importance of top-down regulatory role of the frontal attentional systems, which might enhance visual activations and lead to greater salience of emotional stimuli for perceptual awareness. ..
- Rafalowska J, Dziewulska D, Podlecka A, Zakrzewska Pniewska B. Extensive mixed vascular malformation clinically imitating multiple sclerosis--case report. Clin Neuropathol. 2006;25:237-42 pubmed..The presence of various types of pathological vessels originating from different ontogenic periods indicates remittent or prolonged influence of teratogenic factor(s) in all periods of fetal vessel development...
- Kasperlik Załuska A, Otto M, Cichocki A, Rosłonowska E, Słowińska Srzednicka J, Jeske W, et al. Incidentally discovered adrenal tumors: a lesson from observation of 1,444 patients. Horm Metab Res. 2008;40:338-41 pubmed publisher..The patients not qualified for surgery were carefully controlled by imaging and hormonal examinations. Malignancy is the most serious risk in the group of patients with incidentally discovered adrenal tumors. ..
- Wcislo G, Szarlej Wcislo K, Szczylik C. Control of aggressive fibromatosis by treatment with imatinib mesylate. A case report and review of the literature. J Cancer Res Clin Oncol. 2007;133:533-8 pubmed..On the other hand, the number of kinases blocked by imatinib mesylate is notching up, for instance the tyrosine kinase, which is associated with macrophage-colony stimulating factor receptor (M-CSFR)...
- Bekiesinska Figatowska M, Bragoszewska H, Duczkowski M, Romaniuk Doroszewska A, Szkudlińska Pawlak S, Duczkowska A, et al. Circle of Willis abnormalities in children with neurofibromatosis type 1. Neurol Neurochir Pol. 2014;48:15-20 pubmed publisher..The aim of the study was to assess anatomical variants and abnormalities in cerebral arteries on magnetic resonance angiography in 67 children with neurofibromatosis type 1 (NF1)...
- Bekiesinska Figatowska M, Bulski T, Rózyczka I, Furmanek M, Walecki J. MR imaging of seven presumed cases of central pontine and extrapontine myelinolysis. Acta Neurobiol Exp (Wars). 2001;61:141-4 pubmed..The localization of extrapontine changes included cerebellum, cerebral peduncles, caudate and lentiform nuclei, internal capsules, white matter and cortex of the cerebrum. ..
- Kalfa D, Belli E, Bacha E, Lambert V, Di Carlo D, Kostolny M, et al. Primary Pulmonary Vein Stenosis: Outcomes, Risk Factors, and Severity Score in a Multicentric Study. Ann Thorac Surg. 2017;104:182-189 pubmed publisher..Postoperative pulmonary hypertension and severity of disease evaluated by a new severity score are independent prognostic factors regardless of surgical technique. ..
- Oliver K, Franceschetti S, Milligan C, Muona M, Mandelstam S, Canafoglia L, et al. Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties. Ann Neurol. 2017;81:677-689 pubmed publisher..1 subunit-containing channels, which would counter the loss of function observed for mutant channels, highlighting KCNC1 as a potential target for precision therapeutics. Ann Neurol 2017;81:677-689. ..
- Koziarski A, Zielinski G, Podgórski J, Warczynska A. One stage removal of periaqueductal glioma in adult via infratentorial supracerebellar and transaqueductal approaches. Acta Neurochir (Wien). 2004;146:169-73 pubmed..They also believe it is the first described case, in whom this type of tumour was totally removed by a combined transtectal and transaqueductal route...
- Remiszewski P, Roszkowska Sliz B, Winek J, Chapgier A, Feinberg J, Langfort R, et al. Disseminated Mycobacterium avium infection in a 20-year-old female with partial recessive IFNgammaR1 deficiency. Respiration. 2006;73:375-8 pubmed..A diagnosis of partial recessive IFNgammaR1 deficiency should be contemplated in adults with unexplained environmental mycobacterial diseases. ..
- Kłysz B, Skowronska M, Kmiec T. Mitochondrial protein associated neurodegeneration - case report. Neurol Neurochir Pol. 2014;48:81-4 pubmed publisher..In the MRI on T2- and T2*-weighted images, there are hypointense lesions in the globus palidus and substantia nigra corresponding to iron accumulation. ..
- Domitrz I, Gaweł M, Maj E. Cluster headache - a symptom of different problems or a primary form? A case report. Neurol Neurochir Pol. 2013;47:184-8 pubmed..This headache is not so rare in the general population and its secondary causes must be ruled out before the diagnosis of a primary headache as cluster headache is made...
- Barszcz S, Roszkowski M, Daszkiewicz P, Jurkiewicz E, Maryniak A. Accuracy of intraoperative registration during electromagnetic neuronavigation in intracranial procedures performed in children. Neurol Neurochir Pol. 2007;41:122-7 pubmed..Neither imaging modality (MRI or CT) used for creation of a three-dimensional model of the patient's head nor registration of more than 6 landmarks have an impact on registration accuracy. ..
- Peczkowska M, Erlic Z, Hoffmann M, Furmanek M, Cwikla J, Kubaszek A, et al. Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1. J Clin Endocrinol Metab. 2008;93:4818-25 pubmed publisher..Mutation-specific counseling, risk assessment, and management recommendations ideally should be performed. Here, we provide data for a single common mutation of the SDHD gene...
- Litwin T, Gromadzka G, Członkowska A, Gołębiowski M, Poniatowska R. The effect of gender on brain MRI pathology in Wilson's disease. Metab Brain Dis. 2013;28:69-75 pubmed publisher..We speculate that these differences are potentially related to an oestrogen protective effect and are due to differences in gender-related clinical forms. ..
- Debowska W, Wolak T, Soluch P, Orzechowski M, Kossut M. Design and evaluation of an innovative MRI-compatible Braille stimulator with high spatial and temporal resolution. J Neurosci Methods. 2013;213:32-8 pubmed publisher..The results validate the use of the BCS as a method of effective stimuli application in fMRI studies, in both sighted and visually impaired subjects. ..
- Stepien A, Staszewski J, Domzał T, Tomczykiewicz K, Skrobowska E, Durka Kesy M. Degenerative pontine lesions in patients with familial narcolepsy. Neurol Neurochir Pol. 2010;44:21-7 pubmed..There are some examples of non-specific brainstem lesions found in magnetic resonance imaging (MRI) in patients with idiopathic narcolepsy...
- Matyja E, Grajkowska W, Marchel A, Rysz A, Majkowska Zwolinska B. Ectopic cerebellum in anterior cranial fossa: Report of a unique case associated with skull congenital malformations and epilepsy. Am J Surg Pathol. 2007;31:322-5 pubmed..To our knowledge, this is the first report of totally isolated, well-differentiated ectopic cerebellum in the anterior cranial fossa accompanied by skull deformation and epilepsy...
- Bausch B, Schiavi F, Ni Y, Welander J, Patocs A, Ngeow J, et al. Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention. JAMA Oncol. 2017;3:1204-1212 pubmed publisher..Genetic testing is recommended in patients at clinically high risk if the classic genes are mutation negative. Gene-specific prevention and/or early detection requires regular, systematic whole-body investigation. ..
- Roszkowski M, Drabik K, Barszcz S, Jozwiak S. Surgical treatment of intraventricular tumors associated with tuberous sclerosis. Childs Nerv Syst. 1995;11:335-9 pubmed..The diagnosis and surgical treatment of the tumor are discussed, and periodic CT scanning, at least every 2 years, is recommended for patients with TS...
- Olszewski W, Ambujam P, Zaleska M, Cakala M. Where do lymph and tissue fluid accumulate in lymphedema of the lower limbs caused by obliteration of lymphatic collectors?. Lymphology. 2009;42:105-11 pubmed..These observations provide useful clues for designing pneumatic devices and rational manual lymphatic massage to move stagnant tissue fluid toward the non-swollen regions. ..