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Biomedical subjects

J Rutka

Publications and source records attributed to J Rutka.

At least 19 recordsLinked to original sources
PubMed2003

Malformations of cortical development with balloon cells: clinical and radiologic correlates.

BACKGROUND: Balloon cells are a key feature of tuberous sclerosis (TS) but are also seen in focal cortical dysplasia (FCD). The authors compare the clinical and MRI characteristics in children with medically refractory localization-related epilepsy who were found to have balloon cells on histology after cortical resections. METHODS: A retrospective review of clinical and MRI data in cases ascertained from a search of pathology records from 1990 until 2000 for those with a diagnosis of FCD or TS. Seventeen patients were identified with malformations of cortical development with balloon cells on histology. Seven had clinical diagnosis of TS and the remaining 10, FCD with balloon cells (FCDBC). RESULTS: Seventy percent of patients with FCDBC (mean follow-up 3.3 years) and 33% of patients with TS (mean follow-up 5.1 years) are seizure free after surgery. There was agreement between the diagnosis based on preoperative MR imaging and on histology in 60% of patients with FCDBC and 71% of patients with TS. Myelin depletion and calcification were noted more frequently in patients with TS. CONCLUSIONS: No significant differences were noted between patients with refractory epilepsy caused by TS or FCDBC. There was a trend toward better postoperative seizure control in the FCDBC group. These two conditions are difficult to distinguish on the basis of MR and histologic appearances. The authors conclude that FCDBC likely represents a phenotypic variation of TS, and as such, all patients with balloon cell dysplasias should be carefully screened for other features of TS to enable appropriate genetic counseling.

Cerebral Cortex↗
PubMed2001

Genetic basis of pituitary adenoma invasiveness: a review.

Compatible with contemporary paradigms of the role of genetic aberrations in the progression of human tumors, the growth of pituitary tumors into a state of invasiveness appears to be due to genetic alterations. Amplification of H-ras and c-myc oncogenes and mutations of p53, nm23 and Rb genes have been identified disproportionately more in aggressive tumors and, in the case of Rb gene, in pituitary carcinomas, providing evidence that amplification of these oncogenes (H-ras and c-myc) and inactivation of tumor suppressor genes (p53, nm23 and Rb) seem to be at least one mechanism by which pituitary tumors progress. The current level of management of invasive pituitary adenomas should become more comprehensive as the advances in our understanding of genetic basis of pituitary adenoma invasiveness becomes translated into development of novel chemotherapy or gene transfer technique.

Adenoma↗
PubMed2001

Role of transcription factors in the pathogenesis of pituitary adenomas: a review.

The diversity inherent in every organ has its roots in gene-expression variation and is revealed through distinctions in the molecular profile and hence the identity of individual cell type. Study into the molecular mechanisms of the development of individual cell type within the pituitary, which is under the control of transcription factors, has provided a basis for a deeper insight into the molecular mechanisms underlying the pathogenesis of a variety of hormone-producing pituitary tumors. Identification of some of these transcription factors in pituitary adenomas further supports their role in the pathogenesis of pituitary adenomas. Understanding the molecular mechanisms of regulation of proliferation of pituitary cell types by transcription factors offers a basis for hope that rational genetic or pharmacologic therapies for pituitary tumors can be designed in the future.

Adenoma↗
PubMed2001

Molecular cytogenetic analysis of glial tumors using spectral karyotyping and comparative genomic hybridization.

BACKGROUND: Glial tumors are the most common tumors of the central nervous system, affecting individuals of all ages. Conventional cytogenetics have been unable to identify a consistent chromosomal translocation or rearrangement in this group of tumors; thus, more advanced molecular cytogenetic approaches are required. METHODS AND RESULTS: In this study, 16 glial tumors, including two recurrences and six glioma cell lines, were analyzed by spectral karyotyping (SKY) and comparative genomic hybridization (CGH). From 169 rearrangements detected by SKY, chromosomes 1 and 10 were the most frequently affected by translocation (18 of 169 and 16 of 169 rearrangements, respectively). Other frequently altered chromosomes included chromosomes 3 (13 of 169 rearrangements), 5 (ten of 169 rearrangements), 7 (ten of 169 rearrangements ), and 11 (ten of 169 rearrangements). A clustering of centromeric breakpoints was detected in chromosomes 3, 5, 10, 11, 16, 17, and 20. CGH analysis identified consistent gain of part or all of chromosome 7 among the 10 astrocytic tumors (five of ten specimens) in the study group. Analysis of the three gangliogliomas and one ependymoma identified a much simpler pattern of primarily numerical change. CONCLUSION: Application of improved cytogenetic methods can increase our abilities to progress toward effective strategies of molecular diagnosis and classification of glial tumors.

Adult↗
PubMed2001

Management of hydrocephalus associated with vestibular schwannoma and other cerebellopontine angle tumors.

OBJECTIVE: Hydrocephalus (HCP) resulting from cerebellopontine angle (CPA) tumors is not rare. This retrospective study was designed to investigate the incidence of HCP and the clinical presentations, management options, and outcomes of HCP in 284 patients with CPA tumors. METHODS: A retrospective study of 284 consecutive patients with CPA tumors (mostly vestibular schwannomas) treated from 1985 to 1996 at Toronto Western Hospital managed by one surgical team consisting of a neurosurgeon and a neuro-otologist. RESULTS: Thirty-nine patients (13.7%) had radiographic and/or clinical evidence of HCP, 37 preoperatively and 2 postoperatively. Tumor type distribution was 33 vestibular schwannomas, 5 meningiomas, and 1 cavernous hemangioma. Only five patients (12%) had obvious obstruction at the fourth ventricular level. In 36 patients (92%), symptoms were mostly chronic and mild, consistent with normal pressure hydrocephalus. Multivariate analysis confirmed the strong association of tumor size and incidence of HCP (P < .0001). Four patients underwent permanent shunting before microsurgical tumor excision, mainly because of florid symptoms of HCP. Microsurgical tumor excision without preoperative shunting was performed in 23 patients, 5 of whom required postoperative shunting in the first 2 months after tumor excision. Eighteen patients (78%) did not need shunts after tumor resection. With regard to tumor size, the postoperatively shunted group did not differ from the patients who had surgery but did not require shunt treatment (P < 0.50). The remaining 10 patients with preoperative HCP received shunts as the only treatment (3 patients), stereotactic radiosurgery (3 patients), or expectant management (4 patients). Two other patients without preoperative HCP developed postoperative HCP and required shunts. Postoperatively, we observed a significant (P < 0.001) increase in the incidence of pseudomeningocele and a nonsignificant (P < 0.1) increase in cerebrospinal fluid leaks (rhinorrhea and/or otorrhea) in patients without shunts as compared with postoperative patients without HCP. The patients were followed after any treatment for a mean of 3.2 years (range, 6 mo-10 yr). Follow-up in the patients who had surgery but did not require a shunt revealed a 61% decrease in clinical symptoms related to HCP and a 75% decrease in radiographic signs of HCP. CONCLUSION: In the presence of HCP, operative resection of CPA tumors can be performed without permanent cerebrospinal fluid shunting. Precautionary measures to decrease the incidence of postoperative complications related to cerebrospinal fluid leak in patients with preoperative HCP include meticulous obliteration of any exposed air cells, including those around the internal auditory canal, accurate restoration of the dural barrier, and temporary lowering of intracranial pressure with a ventricular or lumbar drain. Patients with persistent symptomatic HCP after tumor excision should be treated with a ventriculoperitoneal shunt. Delaying this decision until the postoperative period is safe and avoids unnecessary shunting in the majority of patients.

Brain Neoplasms↗
PubMed2001

Unusual eustachian tube mass: glomus tympanicum.

SUMMARY: A case of recurrent glomus tympanicum presenting with epistaxis is described. CT and MR imaging revealed a homogeneously enhancing mass extending along the entire course of the eustachian tube, with a portion protruding into the nasopharynx. Glomus tumors tend to spread along the path of least resistance and may extend into the eustachian tube. The unique imaging appearance should place a glomus tumor high on the list of differential diagnoses.

Epistaxis↗
PubMed2001

[Ultrasonographic examination in urinary tract infections].

The authors discuss the results ultrasonographic examination in children with urinary tract infections. The study included 435 children in aged 1 months-18 years treated in our Department since 1995 until 2000 y. In 260 (59.8%) children in USG examination changes in kidney were not observed. In 175 (40.2%) children changes in kidney were found.

Adolescent↗
PubMed2000

Adenoviral vector-mediated gene transfer: timing of wild-type p53 gene expression in vivo and effect of tumor transduction on survival in a rat glioma brachytherapy model.

OBJECTIVE: This study sought to investigate modification of the radiation response in a rat 9L brain tumor model in vivo by the wild-type p53 gene (wtp53). Determination of the timing and dose of radiation therapy required the assessment of the duration of the effect of wtp53 expression on 9L tumors after in vivo transfection. METHODS: Anesthetized male F-344 rats each were stereotactically inoculated with 4 x 10(4) 9L gliosarcoma cells through a skull screw into the cerebrum in the right frontal region. Twelve-day-old tumors were inoculated through the screw with recombinant adenoviral vectors under isoflurane anaesthesia: control rats with Ad5/RSV/GL2 (carrying the luciferase gene), and study rats with Ad5CMV-p53 (carrying the wtp53 gene). Brain tumors removed at specific times after transfection were measured, homogenized, and lysed and wtp53 expression determined by Western blot analysis. Four groups of nine rats were, subsequently, implanted with iodine-125 seeds 15 days post-tumor inoculation to give a minimum tumor dose of 40 or 60 Gy. RESULTS: We demonstrated transfer of wtp53 into rat 9L tumors in vivo using the Ad5CMV-p53 vector. The expression of wtp53 was demonstrated to be maximum between days 1 and 3 post-vector inoculation. Tumors expressing wtp53 were smaller than controls transfected with Ad5/RSV/GL2 but this difference was not statistically significant. Radiation made a significant difference to the survival of tumor-bearing rats. Moreover, wtp53 expression conferred a significant additional survival advantage. CONCLUSION: The expression of wtp53 significantly improves the survival of irradiated tumor-bearing rats in our model.

Adenoviridae↗
PubMed2000

Role and mechanism of PKC in ischemic preconditioning of pig skeletal muscle against infarction.

Protein kinase C (PKC) inhibitors, chelerythrine (Chel, 0.6 mg) and polymyxin B (Poly B, 1.0 mg), and PKC activators, phorbol 12-myristate 13-acetate (PMA, 0.05 mg) and 1-oleoyl-2-acetyl glycerol (OAG, 0.1 mg), were used as probes to investigate the role of PKC in mediation of ischemic preconditioning (IPC) of noncontracting pig latissimus dorsi (LD) muscles against infarction in vivo. These drugs were delivered to each LD muscle flap (8 x 12 cm) by 10 min of local intra-arterial infusion. It was observed that LD muscle flaps sustained 43 +/- 5% infarction when subjected to 4 h of global ischemia and 24 h of reperfusion. IPC with three cycles of 10 min ischemia-reperfusion reduced muscle infarction to 25 +/- 3% (P < 0.05). This anti-infarction effect of IPC was blocked by Chel (42 +/- 7%) and Poly B (37 +/- 2%) and mimicked by PMA (19 +/- 10%) and OAG (14 +/- 5%) treatments (P < 0.05), given 10 min before 4 h of ischemia. In addition, the ATP-sensitive K(+) (K(ATP)) channel antagonist sodium 5-hydroxydecanoate attenuated (P < 0.05) the anti-infarction effect of IPC (37 +/- 2%), PMA (44 +/- 17%), and OAG (46 +/- 9%). IPC, OAG, and Chel treatment alone did not affect mean arterial blood pressure or muscle blood flow assessed by 15-microm radioactive microspheres. Western blot analysis of muscle biopsies obtained before (baseline) and after IPC demonstrated seven cytosol-associated isoforms, with nPKCepsilon alone demonstrating progressive cytosol-to-membrane translocation within 10 min after the final ischemia period of IPC. Using differential fractionation, it was observed that nPKCepsilon translocated to a membrane compartment other than the sarcolemma and/or sarcoplasmic reticulum. Furthermore, IPC and preischemic OAG but not postischemic OAG treatment reduced (P < 0.05) muscle myeloperoxidase activity compared with time-matched ischemic controls during 16 h of reperfusion after 4 h of ischemia. Taken together, these observations indicate that PKC plays a central role in the anti-infarction effect of IPC in pig LD muscles, most likely through a PKC-K(ATP) channel-linked signal-transduction pathway.

Adenosine↗
PubMed2000

[A form of premorbid condition of urolithiasis and urinary stone composition in children with urolithiasis].

In diagnosis, monitoring and prophylaxis of urolithiasis it is important to use simple, non-invasive tests. The aim of the study was to define the value of crystallizing ratios in urine in correlation with chemical stone composition in presumptive diagnosis and monitoring patients with urolithiasis. The study involved 102 children. An analysis of chemical stone composition was carried out in 62 cases. A correlation between values of crystallizing ratios in the urine, indicating the kind of preurolithiasis state and chemical stone composition has been found.

Adolescent↗
PubMed2000

[Changes of kidney parenchyma in children with nephrolithiasis after ESWL treatment in ultrasonography, power Doppler and thermovision monitoring].

The authors discuss the results ultrasonographic (USG), power Doppler (PD) and thermovision (TV) examination in monitoring changes of kidney parenchyma in 30 children with nephrolithiasis after ESWL treatment. To monitor possible effect of shock wave on the kidney parenchyma the USG, PD and TV examination were done before ESWL treatment as well as, 48 hours and 3 months following the treatment. Parts of kidney parenchyma localized on the way of shock wave to the stone were analysed. Echogenicity of kidney parenchyma was analysed by comparison of echo amplitude in subsequent USG examinations. Parenchymal blood flow by computer analyse was estimated. In TV examination the temperature distribution in the place of skin kidney projection was estimated. Changes in echogenicity of kidney parenchyma and impaired kidney parenchymal blood flow 48 hours after ESWL were found. In TV examination 48 hours after ESWL transient reduction in skin temperature was observed in the place of shock wave transmission. In 3 months after ESWL disturbances in the kidney parenchyma in USG, PD and TV were not observed.

Adolescent↗
PubMed2000

[Simple renal cysts in children: treatment with ethyl alcohol injection into their lumen].

OBJECTIVE: The authors assess the efficacy of treatment of simple renal cysts with 95.5% ethyl alcohol injected into their lumen. MATERIAL AND METHOD: The diagnosis was confirmed by traditional US and color Doppler, urography, and renal scintigraphy. In four children with simple renal cysts ultrasound-guided puncture, aspiration of fluid and instillation of 95.5% of ethyl alcohol for 15-20 minutes were performed and a needle was withdrawn. RESULTS: In three children 3 weeks after the procedure diameter of cysts began to diminish and by the 5th week cysts were not detected in US. In the fourth child the cyst started to diminish 2 months after the procedure and disappeared after the next 3 months. There was no cyst recurrence after the procedure (average follow-up: 22 months). CONCLUSIONS: In 4 children treatment of simple renal cyst with 95.5% ethyl alcohol has proved safe and effective treatment.

Adolescent↗
PubMed2000

The irony of being Oscar: the legendary life and death of Oscar Wilde.

In this second in a series of famous historic personages who suffered from ear disease (see Yardley M, Rutka J. Troy, Mycenae, and the Otologic Demise of Herr Heinrich Schliemann. J Otolaryngol 1998; 27:217-221), we review the life and otology-related death of the legendary playwright Oscar Wilde. In his time, Wilde ridiculed the social hypocrisy of the Victorian age, championed the individual, and pleaded for a more tolerant and forgiving society in his many books, plays, and letters. Very much the acerbic and iconoclastic wit, Wilde's private and later very public affair de coeur with Lord Alfred Douglas, the son of the Marquis of Queensberry, still continues to interest and paradoxically shock our sensitivities. Wilde's ultimate demise from an otogenic bacterial meningitis appears all the more ironic when one considers the role his father, Sir William Wilde, played as one of the founding fathers of modern otology.

Drama↗
PubMed1999

The presence of ganglion cells in the human middle ear: a histological survey.

A histological survey of 871 previously sectioned temporal bones from the Ear Pathology Research Laboratory (EPRL) of the University of Toronto was undertaken to determine the presence of ganglion cell and ganglion cell rests within the human middle ear. The presence of ganglion cells within the middle ear was a common finding noted in 52.3% of temporal bones surveyed. So-called 'ectopic' ganglion cells were identified most often in the greater superficial petrosal nerve (38.7%), the lesser superficial petrosal nerve (12.4%) and on the promontory (11.4%). They were also identified in the main trunk of the intratemporal facial nerve, but in smaller numbers (3%), and for the first time in the tensor tympani muscle. Their consistent presence implies that they should not be considered an abnormal anatomic variant, and further questions accepted conventional anatomic descriptions of middle ear innervation.

Ear, Middle↗
PubMed1999

Olfactory dysfunction in head injured workers.

Olfactory dysfunction following trauma has been widely reported and is currently compensable according to existing American Medical Association guidelines when it occurs in the occupational setting. Its presence and the risk factors for its development, however, have not been clearly delineated in occupationally head injured workers. In order to assess this phenomenon, a series of 365 consecutive head injured workers from 1993-1997 was assessed in order to determine the incidence of post-traumatic olfactory dysfunction and its association with the severity of the head injury, the mechanism of injury and other neurotological abnormalities in the same cohort group. Olfactory dysfunction was identified in 13.7% (9.3% with anosmia, 4.4% with hyposmia/dysosmia). It was more likely where the loss of consciousness > 1 h (p < 0.002), in more severe head injuries (grades II-V) (p < 0.001) and when skull fracture (p < 0.001) occurred. The direction of the blow applied to the skull did not influence its presence, although radiologically confirmed skull fractures in the frontal, occipital, skull base and midface were twice as likely as temporal and parietal fractures to result in an olfactory change. From a neurotologic perspective, approximately 21.9% of head injured workers were determined to have recognizable evidence of cochleovestibular dysfunction. Olfactory dysfunction as a physical finding post-head injury compares favourably with the presence of post-traumatic benign positional paroxysmal vertigo (BPPV) and its atypical variants in 11.2% of head injured workers.

Craniocerebral Trauma↗
PubMed1999

Comparison of tumor markers in patients with squamous cell carcinoma of the head and neck.

The serum concentrations of three separate tumor markers, squamous cell carcinoma antigen (SCC Ag), carcinoembryonic antigen (CEA) and Cyfra 21-1 were clinically correlated in 86 randomly selected patients with squamous cell carcinoma involving the head and neck. Positive findings for each tumor marker were totalled and statistically analysed. The upper limits of normal for SCC Ag, CEA and Cyfra 21-1 were set at 1.5, 2.5 and 2.0 ng/ml, respectively. Positivity rates were 20.6% for SCC Ag, 14.0% for CEA and 41.7% for Cyfra 21-1. Elevated Cyfra 21-1 concentrations correlated somewhat with age, whereas elevated CEA levels correlated with the site of tumor involvement. Overall, Cyfra 21-1 appeared to be the most useful marker in head and neck squamous cell carcinoma.

Aged↗
PubMed1999

Central neurocytoma: morphological, flow cytometric, polymerase chain reaction, fluorescence in situ hybridization, and karyotypic analyses. Case report.

The results of cytogenetic and molecular genetic analysis of a central neurocytoma are presented. Central neurocytomas are intriguing neoplasms that exhibit primarily neuronal, but also glial characteristics, which indicate an origin from a pluripotential neuroglial precursor. The authors describe an intraventricular neurocytoma in an 11-year-old boy that showed anaplastic features with widespread necrosis and mitoses, as well as extensive calcification and foci that exhibited marked neuronal differentiation with clusters of ganglion cells. Immunohistochemical examination showed prominent synaptophysin and neurofilament positivity and focal glial fibrillary acidic protein positivity. Electron microscopy revealed abundant neuritic processes with microtubules and dense core granules as well as mature ganglion cells. Flow cytometry studies revealed increased S (7.8%) and G2M (9.7%) phase components. Molecular and cytogenetic studies were undertaken to assess whether there were similarities to two other tumor types that exhibit neuronal differentiation, the neuroblastoma and medulloblastoma. Polymerase chain reaction and fluorescence in situ hybridization (FISH) analysis revealed no evidence of amplification of the MYCN oncogene or chromosome 1p deletion, which are common in neuroblastomas. Chromosomal analysis by G banding revealed a complex karyotype, with counts in the near-diploidy range (45-48). Two chromosomes 1 appeared normal on G banding and FISH analysis, with p58 signals present on the distal p arm of both chromosomes 1; however, three additional copies of distal 1q were present in rearrangements with 4 and 7. Although the histological findings indicate a kinship to the neuroblastoma and medulloblastoma, the central neurocytoma appears to have a different karyotypic profile, although more cases need to be assessed using molecular genetic analysis.

Brain Neoplasms↗