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Biomedical subjects

J Pilch

Publications and source records attributed to J Pilch.

At least 19 recordsLinked to original sources
PubMed2006

Genotype-phenotype associations for ARX gene duplication in X-linked mental retardation.

We screened 165 mentally retarded patients for ARX gene 428-451 base pair (bp) duplication. Eighteen individuals from five families were found to carry the duplication, and all had intellectual impairment. Twelve presented with focal hand dystonia, while six patients had EEG abnormalities including seizures. Other symptoms included speech difficulties (4/18), testis enlargement (4/18), lower limb spasticity or foot dystonia (4/18), and facial telangiectasia (3/18). These features confirm the pleiotropic effect of the duplication.

Adolescent↗
PubMed2005

Physical and developmental phenotype analyses in a boy with Wolf-Hirschhorn syndrome.

Wolf-Hirschhorn syndrome (WHS) is a rare genetic condition with characteristic facial traits, organ malformations, functional impairment and developmental delay due to partial short arm monosomy of chromosome 4. Although several hundreds of cases have been published to date, a systematic collection of its clinical symptoms and anthropological traits is missing in the literature, and reports on abilities and needs of children with WHS are scanty. Results of detailed physical and developmental phenotype analyses in a 1 10/12-year-old boy with monosomy 4p15.2-pter are presented. Physical analyses were based on systematic data acquisition. They disclosed a total of 32 clinical symptoms and 46 anthropological traits. Developmental analyses were based on the child's interactive play in an environment structured according to Montessori principles. They disclosed a total of 44 abilities and a number of needs to be satisfied by the environment for the support of the child's psychic and intellectual growth. While the physical phenotype is important for the diagnostic process, the developmental phenotype is essential for parental counseling.

Abnormalities, Multiple↗
PubMed2001

Sperm chromatin structure assay of bulls qualified for artificial insemination.

The goal of our study was to find the relationship between fertility of bulls qualified for AI and the percentage of spermatozoa with abnormal chromatin structure as an independent parameter. We used the frozen semen of 8 mature bulls from one AI center. Each bull was represented by 3 ejaculates collected with at least 2-week intervals. Bull fertility was calculated on the basis of non-return ratio and was expressed as a scale where 100 points represented the average fertility of all the AI center's bulls. Bulls with lower or higher fertility received a lower or higher score respectively. Fertility scores of bulls used in the study ranged from 83 to 104 . Semen was processed according to the SCSA (sperm chromatin structure assay) method and was analyzed by flow cytometry. "Artificial" alpha(t) (alpha(t)=red/green+red fluorescence) and red fluorescence histograms were used for calculation of COMPalpha(t), SDalpha(t), %Red, %PeakR and MeanR parameters. The percentage of spermatozoa with abnormal chromatin ranged from 1.2% to 23.8%. A large variation among ejaculates was found for bulls with lower fertility. Fertility correlated significantly with COMPalpha(t) (-0.50, P < 0.05), SDalpha(t) (-0.55, P < 0.01), %Red (-0.53, P < 0.01), %PeakR (-0.58, P < 0.01) and MeanR (-0.45, P < 0.05). The SCSA method has a practical application in analyzing spermatogenesis disorders in bulls. If regularly applied, it allows us to identify and eliminate ejaculates with a high level of sperm chromatin abnormalities.

Acridine Orange↗
PubMed2001

Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18.

We report the results of detailed clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18. Classical cytogenetics and fluorescence in situ hybridization (FISH) analysis with the chromosome 18 painting probe identified five non-mosaic and two complex mosaic 46,XX,dup(18)(p11.2)/47,XX,dup(18)(p11.2),+r(18) and 46,XX,dup(18)(p11.32)/47,XX,dup(18)(p11.32),+r(18) cases. FISH analysis was performed for precise characterization of the chromosome 18 breakpoints using chromosome 18-specific short-arm paint, centromeric, subtelomeric, and a panel of fifteen Alu- and DOP-PCR YAC probes. The breakpoints were assessed with an average resolution of approximately 2.2 Mb. In all r(18) chromosomes, the 18q terminal deletions ranging from 18q21.2 to 18q22.3 ( approximately 35 and 9 Mb, respectively) were found, whereas only in four cases could the loss of 18p material be demonstrated. In two cases the dup(18) chromosomes were identified as inv dup(18)(qter-->p11.32::q21.3-->qter) and inv dup(18)(qter-->p11.32::p11.32-->p11.1: :q21.3-->qter)pat, with no evidence of an 18p deletion. A novel inter-intrachromatid mechanism of formation of duplications and ring chromosomes is proposed. Although the effect of "ring instability syndrome" cannot be excluded, the phenotypes of our patients with characteristic features of 18q- and 18p- syndromes are compared and correlated with the analyzed genotypes. It has been observed that a short neck with absence of cardiac anomalies may be related to the deletion of the 18p material from the r(18) chromosome.

Abnormalities, Multiple↗
PubMed2000

Agenesis of corpus callosum: clinical description and etiology.

In 135 children (aged 3 months to 15 years) with structural defects of the central nervous system found on magnetic resonance imaging, agenesis of the corpus callosum was evident in 7. The etiology of agenesis of the corpus callosum has been established in four children: partial trisomy of chromosome 13, partial duplication of the long arm of chromosome 10, Aicardi's syndrome, and intracranial bleeding during the fetal period as a result of injury. Agenesis of the corpus callosum coexisted with a Dandy-Walker malformation in one other patient, which suggests a genetic etiology. In spite of these variable etiologies, dysmorphic features were identified in all seven patients, as was psychomotor retardation. Epileptic seizures had occurred in six patients, and all manifested abnormalities on neurologic examination.

Adolescent↗
PubMed2000

[Histological and clinical analysis of mesenchymal malignant neoplasms (soft tissue sarcomas) of head and neck region in the data of I ENT Department of Silesian Medical Academy].

Between the years 19890-1998 in I ENT Department of Silesian Medical Academy were treated surgically 15 patients suffering from soft tissue sarcomas of head and neck region. Patomorphological examination showed: fibrosarcoma (4 cases), haemangioendothelioma malignum (2 cases), rhabdomyosarcoma (2 cases), schwannoma malignum (2 cases), fibrohistiocytoma malignum (2 cases), tumor mixtus mesenchymalis (1 case), haemangiopericytoma malignum (1 case), extrasceletal osteosarcoma (1 case). Sarcomas were localised in paranasal sinuses (7 cases), orbita (5 cases), parapharyngeal space (1 case), parotid gland (1 case) and bucca (1 case). All those patients were treated surgically and most of them were irradiated postoperatively. The authors have presented the diagnostic and methods of treatment of soft tissue sarcomas. According to our experience and data of the literature the method of choice in treatment soft tissue sarcomas should consist of surgery and radiation therapy postoperatively.

Adolescent↗
PubMed2000

[A contribution to the etiology of objective tinnitus: the case of arteriovenous fistula between the superficial artery and external jugular vein].

The authors have presented a very rare case of vascular anomaly in 51-years old female with an arteriovenous fistula between the frontal branch and parietal branch of superficial temporal artery and external jugular vein with simultaneously haemangioma cavernosum of temporal region. The clinical manifestation and the diagnosis of this anomaly are discussed with particular stress laid on the role of carotid arteriography which demonstrated the presence of this abnormal arterio-venous communication. Surgical treatment and its results are discussed also. The results of diagnostic and therapeutic procedures were compared with cases described in the literature.

Arteriovenous Fistula↗
PubMed2000

[Antioxidant enzymes activity in patients suffering from laryngeal cancer].

The adequate activity of SOD, GPX and GR is a significant factor in oxidoreductation homeostasis maintaining. The attempt was made to estimate SOD, GPX, GR activity in full blood of 14 male patients suffering from laryngeal cancer (T2N0M0-T4N2M0). The studies were made before and in 8 and 16 week after the operation using RANDOX Company tests. The analysis of results proved that there were remarkable disorders of GR activity in comparison to a control group.

Antioxidants↗
PubMed2000

[Vascular compression syndrome of the vestibulocochlear nerve--otolaryngologic and radiologic diagnosis].

Vascular compression syndrome is the term used to classify a group of conditions though to be caused by the compression of cranial nerve by vessel. In the most cases the contact of vascular loop formed by the anterior inferior cerebellar artery (AICA) with the eight and facial nerve correlated with unilateral auditory symptoms or hemifacial spasms. The vascular compression syndrome of vestibulocochlear nerve in 8 patients treated in I ENT Clinic of Silesian Academy and MRI Department in Katowice was observed. All patients were otologic findings such as a tone audiometry, ENG, ABR and radiological diagnostics included MRI and angio MRI. The prospective analysis was performed. The results suggest that the unilateral sensorineural hearing loss, tinnitus, vestibular disorders and positive findings on magnetic resonance imaging are the most reliable evidence for the presence neurovascular compression syndrome of the eight cranial nerve. The MRI and otologic studies provided quite detailed information about topography of relationship between the blood vessels and cranial nerves in the crebellopontine cistern.

Adult↗
PubMed1999

[The assessment of beta 2-microglobulin concentration in blood serum in patients with radiotherapy-treated laryngeal carcinoma].

The authors present estimation of beta 2-microglobulin concentration in blood serum in patients suffering from laryngeal cancer treated with radiotherapy in the course of treatment and 3 years after. The initial concentration of beta 2-microglobulin in the blood serum was statistically significantly higher in comparison with the control group. A significantly higher initial concentration of beta 2-microglobulin was observed in the group of patients with the recurrence of cancer in relation to the group of patients without the recurrence of cancer both immediately and 3 years after radiotherapy.

Aged↗
PubMed1999

[The assessment of lateral orbitotomy by Krönlein-Reese-Berke in surgical treatment of primary non-malignant orbital tumors].

AIM: The assessment of lateral orbitotomy by Krönlein-Reese-Berke was made to evaluate the possibility of radical removal of primary orbital tumors, function of visual system and cosmetic effect after lateral orbitotomy. MATERIAL AND METHODS: The authors analysed a group of 14 patients treated for primary non-malignant orbital tumors. They were treated in I ENT Clinic of Silesian Medical Academy in Katowice surgically by Krönlein-Reese-Berke lateral orbitotomy. A control examination (after 3 years) performed in all 14 patients did not show recurrence of tumor, the motility of the eye ball and visual function was normal, cosmetic effect was good. CONCLUSIONS: We suggest that in the cases of primary non-malignant tumors localised in the lateral part of the orbita, orbitotomy by Krönlein-Reese-Berke is the optimal surgical approach.

Female↗
PubMed1997

Effects of inhaled versus intravenous vasodilators in experimental pulmonary hypertension.

Inhaled nitric oxide (NO) causes selective pulmonary vasodilation and improves gas exchange in acute lung failure. In experimental pulmonary hypertension, we compared the influence of the aerosolized vasodilatory prostaglandins (PG) PGI2 and PGE1 on vascular tone and gas exchange to that of infused prostanoids (PGI2, PGE1) and inhaled NO. An increase of pulmonary artery pressure (Ppa) from 8 to approximately 34 mmHg was provoked by continuous infusion of U-46619 (thromboxane A2 (TxA2) analogue) in blood-free perfused rabbit lungs. This was accompanied by formation of moderate lung oedema and severe ventilation-perfusion (V'/Q') mismatch, with predominance of shunt flow (>50%, assessed by the multiple inert gas elimination technique). When standardized to reduce the Pps by approximately 10 mmHg, inhaled NO (200 ppm), aerosolized PGI2 (4 ng x kg(-1) x min(-1)) and nebulized PGE1 (8 ng x kg(-1) x min(-1)) all reduced both pre- and postcapillary vascular resistance, but did not affect formation of lung oedema. All inhalative agents improved the V'/Q' mismatch and reduced shunt flow, the rank order of this capacity being NO > PGI2 > PGE1. In contrast, lowering of Ppa by intravascular administration of PGI2 and PGE1 did not improve gas exchange. "Supratherapeutic" doses of inhaled vasodilators in control lungs (400 ppm NO, 30 ng x kg(-1) x min(-1) of PGI2 or PGE1) did not provoke vascular leakage or affect the physiological V'/Q' matching. We conclude that aerosolization of prostaglandins I2 and E1 is as effective as inhalation of nitric oxide in relieving pulmonary hypertension. When administered via this route instead of being infused intravascularly, the prostanoids are capable of improving ventilation-perfusion matching, suggesting selective vasodilation in well-ventilated lung areas.

15-Hydroxy-11 alpha,9 alpha-(epoxymethano)prosta-5↗
PubMed1996

[The use of x-ray microanalysis and transmission microscopy in studies of the chemical composition and ultrastructure of the microregions of precancerous tissues of the larynx].

The authors have presented the results of studies concerning the changes of chemical composition and ultrastructure of tissue microregions at patients with laryngeal precancerous states. Microanalytical studies were made using X-ray JEOL JSM 35 microprobe analyser. The chemical composition of laryngeal precancerous tissue taken from the patients and a control group was estimated. The results of studies were verified using X-ray PHILIPS XL-30 microanalyser. Studies of tissue ultrastructure changes were conducted using JOEL JEM 100 XC transmission microscope. Some heavy metals like, lead, cadmium, nickel, iron, copper and caesium were found in the tissue from larynx precancerous state. Further more, in analysed biologic material there were noticed various degenerative changes within stratified squamous epithelium.

Adult↗
PubMed1995

Effects of aerosolized prostacyclin in severe pneumonia. Impact of fibrosis.

The effects of aerosolized prostaglandin (PG) I2 on gas exchange and hemodynamics were investigated in patients ventilated mechanically because of severe community-acquired pneumonia. Group A were patients without preexisting lung disease (n = 6), and Group B were those with underlying chronic fibrotic interstitial lung disease (n = 6). Ventilation-perfusion distribution was assessed by the multiple inert gas elimination technique. In Group A, low doses of aerosolized PGI2 (mean, 6.6 +/- 3.0 ng/kg/min) sufficed to decrease the mean pulmonary artery pressure (Ppa) from 35.0 +/- 1.5 to 31.0 +/- 1.6 mm Hg (p < 0.05), to improve the ratio of arterial oxygen to the fraction of inspired oxygen (PaO2/FIO2 increase from 100 +/- 18 to 134 +/- 18; p < 0.05), and to decrease intrapulmonary shunt (36.9 +/- 4.7 to 27.5 +/- 4.5%; p < 0.05). Systemic arterial pressure (Psa) and cardiac output remained unchanged. In Group B, aerosolized PGI2 was ineffective in doses less than 10 ng/kg/min. A dosage of 33.6 +/- 12 ng/kg/min reduced Ppa (38.0 +/- 2.4 to 30.8 +/- 2.1 mm Hg; p < 0.05), but it also decreased Psa (80.3 +/- 3.6 to 71.3 +/- 4.7 mm Hg; NS) and PaO2/FIO2 (73.8 +/- 6.6 to 65.5 +/- 6.8 mm Hg; p < 0.05) values and increased intrapulmonary shunt (44.7 +/- 3.0 to 49.4 +/- 5.0%, NS). After withdrawal of the PGI2 aerosol, all gas exchange and hemodynamic changes returned to preaerosol baseline values within 60 min in both groups.(ABSTRACT TRUNCATED AT 250 WORDS)

Administration, Inhalation↗
PubMed1995

[Primary multiple neoplasms of the head and neck region].

Considering rareness of primary multiple neoplasms of head and neck region, the authors present 5 cases of different histopathological structure. The authors refer to etiopathogenetic factors and to treatment problems connected with the fact that next recognized neoplasms are, generally, more clinically advanced.

Adult↗
PubMed1995

[The concentration of ferritin in blood serum of patients with neoplasms of the larynx and the maxillary-ethmoidal complex].

The increased level of ferritin is known as a nonspecific marker of inflammatory processes and neoplasms. A purpose of the article was to indicate concentration of ferritin in blood serum before treatment of 33 patients with cancer of larynx and 16 patients with malignant neoplasms of maxillo-ethmoid complex. The patients with cancer of larynx were characterized by significantly high level of ferritin in comparison to patients with malignant neoplasms of maxillo-ethmoid complex (p < 0.05) and to healthy people (p < 0.05) (respectively 241.9 +/- 154.9; 106.9 +/- 45.4 and 125.0 +/- 30.4 ng/ml). Contrary to patients with cancer of larynx patients with malignant neoplasms of maxillo-ethmoid complex did not differ in significant level of ferritin from healthy people. The concentration of hemoglobin in blood in both groups of patients was similar and was characteristically lower than values obtained in healthy people. The results achieved suggest that indicating of ferritin can be helpful while making a differentiation between cancer of larynx and malignant neoplasms of maxillo-ethmoid complex.

Aged↗