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ABSTRACT: To present the therapeutic results related with treating 103 patients with cerebral abscesses of otogenic origin during 3 various time frames (1953-1977, 1978-1989, and 1990-2011).
A total of 103 patients with cerebral abscess of otogenic origin.
Diagnostics and treatment.
Analysis of mortality rates, abscess location and its basis, coexisting complications, neurological condition at admittance, bacteriological tests, and presentation of the results of abscess treatment with the use of neuronavigation.
Mortality rates dropped systematically from the initial value of 35% observed between 1953 and 1977, to 14% between 1978 and 1989, and finally reached 3% between 1990 and 2011. Abscesses were mainly located within the temporal lobe. They predominantly resulted from chronic inflammation of the middle ear. A wide panel of complications was associated with them. Strong concurrence between results of cultures taken from the ear and the abscess was noted.
Cerebral abscesses remain one of the most severe complications related with inflammation of the middle ear. Both the operative methods and the postoperative care evolved (introduction of surgical microscope, new generation of antibiotics), the preoperative diagnostics facilitating the diagnosis and localization of the abscess progressed; nonetheless, the principles underlying the operative treatment remained unchanged. Neuronavigation constitutes a very important and supportive element in the management of otogenic brain abscesses.
Otology & neurotology: official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 02/2012; 33(3):393-5. · 1.44 Impact Factor
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ABSTRACT: Obtaining a good quality of RNA from small population of cells remain an issue. Isolation for a special anatomic location such as inner ear placed in the temporal bone become a challenge, especially in terms of time needed for isolation of living tissue from the bone, which is a key factor to preserve the RNA. Due to limited accessibility to the technologies such as laser dissection, we present a simplified procedure for isolation of good quality of RNA from the inner ear for further studies.
Molecular Biology Reports 02/2012; 39(6):6467-9. · 2.93 Impact Factor
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ABSTRACT: According to epidemiological data head and neck cancers constitute for 12% of all malignancies in the world. It is estimated that a total of 400 000 cases of the mouth and throat and of 160 000 cases of laryngeal cancer, 300 000 people die each year. History of head and neck cancers developed and underwent many changes at the turn of the century. Treatment, pathogenesis and possessed state of knowledge on the subject has changed. Starting from the ancient times there were texts on how to treat and examine patients. The Edwin Smith and Ebers Papyrus are two of the oldest medical documents describing the treatment of cancer patients. Hippocrates was the first person who used the word "cancer" and probably he was the first who divided the tumors into benign and malignant. In a document known as the Doctrine of Hippocrates he described skin cancer and cancer treatments. Over the next centuries, medical science did not develop because of religious concerns about autopsy and surgical procedures. The 17th century is a period in which there were a lot of new information about how to treat such oral cancer. Cancer of the tongue was removed by cauterization, which in the 18th century was replaced by the use of surgical instruments. In the same age glossectomy has been accepted as the treatment of choice performed in the treatment of cancer. The 19th century brought a major breakthrough in the treatment of surgical, diagnostic, anesthetic techniques and understanding of the pathological mechanisms. Histological evaluation of tumors has become mandatory and standard practice in the assessment of cancer. Laryngectomy and neck lymph nodes removal has become commonplace. Modified Radical Neck Dissection (MRND), became popularized as another cancer treatment technique. Describing ways to treat cancer, radiotherapy can not be ignored - there are several new techniques such as Intensity Modulated Radiotherapy (IMRT) and hypofractionation currently used. Chemotherapy and the introduction of many new drugs have changed the outlook for patients suffering from cancer. Recently there are expectations about the targeted therapy, especially in medicaments blocking epidermal growth factor receptor (EGFR).
Przegla̧d lekarski 01/2012; 69(10):1079-83.
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ABSTRACT: To estimate the results of treatment of Ménière's disease with intratympanic injections of gentamicin.
37 patients with defined, pharmacological treatment resistant Ménière's disease treated in Department of Otolaryngology and Laryngological Oncology of University of Medical Sciences in Poznań with intratympanic injections of gentamicin from 2001 to 2010 year.
Patients were injected intratympanic with 0.3 ml (12 mg) of gentamicin once or few times with 7 days or longer breaks and a number of injections depended on the reaction of the inner ear. We estimated the patients' subjective feelings and results of equilibrium and hearing organ examination in early (3 months) and late (2 years) period after treatment.
Complete control of vertigo (class A) was achieved in 84.6%, and complete and essential control (class A and B) in 96.1%. Hearing deterioration usually mild or moderate was observed directly after treatment in 16.2% and after 2 years in 23% patients. The results of pure tone audiometry showed deterioration of hearing in 16.2% (early) and 26.9% (late). In 1 patient hearing deterioration was essential.
Intratympanic injections of gentamicin are effective and not troublesome method of treatment of pharmacological treatment resistant Ménière's disease. In most of patients hearing can be preserved, but they should be always informed about possible risk of hearing deterioration. The number of injections and breaks between them depends on the effect of therapy and of expectations of patients.
Otolaryngologia polska. The Polish otolaryngology 01/2012; 66(1):20-6.
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ABSTRACT: To compare safety, reliability and usefulness of two deafening protocols on animal mouse model, based on aminoglycosides exposure
Adults mice, Bulb/C, deafened with kanamycine 14 days treatment (group I), single kanamycin injection followed by etacrinic acid administration (group II) and control group. Hearing evaluation performed with ABR recordings on 6th day after drug exposure
Both protocols were not able to guarantee complete ablation of the inner ear in tested animals. Although short deafening strategy was more effective (83.33% deaf mice) it was combined with high rate of mortality during general anesthesia for hearing evaluation.
Variable outcomes in deafening mouse animal model implies the necessity of hearing evaluation every time prior to the pathophysiological as well as molecular studies. Mice exposed to severe oto- and nephrotoxic insult do not recover after anesthetic drug administration, thus harvesting inner ear tissues especially as the source of RNA should be performed immediately after ABR recordings.
Otolaryngologia polska. The Polish otolaryngology 01/2012; 66(1):56-60.
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ABSTRACT: The objectives of this article are to assess the frequency and significance of facial paralysis and undiagnosed nerve infiltration in patients with parotid malignancies. 103 patients with parotid gland malignancies were treated in a single institution, the tertiary center for ENT at the University Department in Poznan between 1996 and 2006. Facial palsy at the initial presentation was found in 32 patients. The stage of the primary tumor in the examined group of 103 patients is as follows: 20-T1, 31-T2, 20-T3, 32-T4. The correlation between facial nerve function before treatment and patients' characteristics, including the treatment methods, were analyzed. Intact facial nerve function at patient presentation was a very strong prognostic factor determining the treatment and final outcome for malignant neoplasms of parotid gland. Similarly, T stage and a high-grade malignant histology had a direct influence on the duration of patients' survival.
Archives of Oto-Rhino-Laryngology 12/2011; 269(4):1177-82. · 1.29 Impact Factor
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ABSTRACT: The main purpose of the study was to assess the results of high-dose-rate brachytherapy (HDRBT) and pulsed-dose-rate brachytherapy (PDRBT) in the palliative treatment of patients with locally or regionally recurrent head and neck cancers. The detailed aims concerned the evaluation of these methods in the context of local control, survival, and complications rates in patients subgrouped by different parameters such as age, gender, primary and recurrent tumor localization, tumor size, treatment method (HDR/PDR), primary treatment method, and radiation dose applied.
PDRBT and HDRBT were used in 106 and 50 patients, respectively. In 8 patients, BT procedures were performed in combination with simultaneous chemotherapy. Sixteen patients were additionally treated with interstitial hyperthermia. All patients were regularly followed up within 6 months. Local control, complications, and survival were assessed. Materials included 156 patients with head and neck cancers treated palliatively with HDRBT and PDRBT in the Department of Otolaryngology of Poznań University of Medical Sciences and in the Department of Brachytherapy of Greater Poland Cancer Center from January 2002 to November 2008.
Complete and partial remissions 6 months after finishing the treatment were achieved in 37.7% of patients, whereas survival rates 12 and 24 months after brachytherapy were estimated for 40% and 17%, respectively. The overall complications rate was 35%.
Our results suggest that HDRBT and PDRBT constitute a safe alternative in the palliative treatment of patients with locally or regionally recurrent head and neck cancers with a relapse in a previously irradiated area, which were not qualified or rejected surgery. It gives a good palliative effect with acceptable complication rate.
Brachytherapy 11/2011; 11(2):137-43. · 1.47 Impact Factor
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Andreas Buechner,
Andy Beynon, Witold Szyfter,
Kazimierz Niemczyk,
Ulrich Hoppe,
Matthias Hey,
Jan Brokx,
Julie Eyles,
Paul Van de Heyning,
Gaetano Paludetti, [......],
Jochen Müller-Mazotta,
Carlo Antonio Leone,
Bernard Meyer,
Norbert Dillier,
Thomas Steffens,
André Gentine,
Manuela Mazzoli,
Gerben Rypkema,
Matthijs Killian,
Guido Smoorenburg
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ABSTRACT: Efficacy of the SPEAK and ACE coding strategies was compared with that of a new strategy, MP3000™, by 37 European implant centers including 221 subjects. The SPEAK and ACE strategies are based on selection of 8-10 spectral components with the highest levels, while MP3000 is based on the selection of only 4-6 components, with the highest levels relative to an estimate of the spread of masking. The pulse rate per component was fixed. No significant difference was found for the speech scores and for coding preference between the SPEAK/ACE and MP3000 strategies. Battery life was 24% longer for the MP3000 strategy. With MP3000 the best results were found for a selection of six components. In addition, the best results were found for a masking function with a low-frequency slope of 50 dB/Bark and a high-frequency slope of 37 dB/Bark (50/37) as compared to the other combinations examined of 40/30 and 20/15 dB/Bark. The best results found for the steepest slopes do not seem to agree with current estimates of the spread of masking in electrical stimulation. Future research might reveal if performance with respect to SPEAK/ACE can be enhanced by increasing the number of channels in MP3000 beyond 4-6 and it should shed more light on the optimum steepness of the slopes of the masking functions applied in MP3000.
Cochlear implants international 11/2011; 12(4):194-204.
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ABSTRACT: The aim of the study was to examine the impact of positive prelaryngeal node on the outcome of early glottic cancer and to compare the rate of local and regional recurrences and overall survival rates in patients with positive and negative Delphian node (DN). In the years 1989-2008, a consecutive cohort of 212 patients with T1b and T2 glottic cancer with anterior commisure involvement were treated by means of supracricoid partial reconstructive laryngectomies. No adjuvant radiotherapy was administered. Out of 212 patients, in 75 suspected prelaryngeal tissue was found, harvested and separately sent for histological investigation (16-thyroid, 11-fat, 14-connective tissue, 34-lymph nodes). In 137 remaining cases, there were only muscles and fascia without even a small amount of tissue to be taken. In 16 cases out of the whole group, metastases were found. 33 patients with positive ultrasound findings on the lateral neck underwent selective neck dissection; in 4 cases metastases were confirmed. Local and regional recurrence developed in 37 out of 212 patients (17.5%). There was significant correlation between local relapse and prelaryngeal node metastases; out of 20 cases with local recurrence, 13 had positive DN (P < 0.005). There was also significant correlation between nodal relapses and DN metastases; out of 22 cases with nodal relapse, 12 had positive DN and 10 were DN negative (P < 0.005). The organ preservation rates for DN positive and DN negative patients were 62.5 and 93.88%, respectively. There was noted a significant difference in the mean survival between the groups with positive and negative DN (P = 0.004; 38.7 vs. 49.3 months, respectively). In conclusion, positive DN seems to be a strong isolated factor influencing prognosis in patients with early glottic cancer. DN metastases are responsible for the increased rates of local and nodal relapses, decreased chances of organ preservation and poor overall survival rates.
Archives of Oto-Rhino-Laryngology 09/2011; 269(1):193-9. · 1.29 Impact Factor
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ABSTRACT: To show 7 cases of Wegener granulomatosis (WG) with early aural symptoms and to discuss the problems of otologic manifestation in WG.
Retrospective case review.
: Tertiary care university hospital.
All patients were administered to the ENT University Department in Poznań in years 2002-2008 because of otitis media with effusion, facial palsy, sensorineural profound hypoacusis, hypoacusis combined with purulent discharge, and facial nerve palsy or progression of mixed type hypoacusis.
Diagnostics and treatment. MAIN OUTCOME MEASURESL: Otologic symptoms as initial manifestation of WG diagnostic dilemma.
The authors want to underline the young age of the patients, ranging from 32 to 46 years. The outcome of initially otologic cases, which developed generalized form of WG, was poor (the first patient died after 2 months, the second patient died after 7 days, the third had the pulmonary insufficiency in 2 months of observation, and the fourth had severe renal failure in 1 month), whereas the patients with localized disease have been successfully under control for 1 to 5 years.
As WG often presents otologic symptoms, as an initial sign in some cases, it is important to take WG into consideration in atypical inflammatory states of the ear. The otologic onset of WG is very insidious, and prompt diagnosis in early stage of disease is a challenge. Focal and localized disease in the aural region might possibly require less aggressive therapy than acute-onset multi-organ disease and is connected with better prognosis.
Otology & neurotology: official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 06/2011; 32(6):996-1000. · 1.44 Impact Factor
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Małgorzata Rydzanicz,
Karolina Cywińska,
Maciej Wróbel,
Agnieszka Pollak,
Wojciech Gawęcki,
Irena Wojsyk-Banaszak,
Urszula Lechowicz,
Małgorzata Mueller-Malesińska,
Monika Ołdak,
Rafał Płoski,
Henryk Skarżyński,
Krzysztof Szyfter, Witold Szyfter
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ABSTRACT: Mutations in mitochondrial DNA have been implicated in both, non-syndromic and aminoglycoside-induced hearing loss. In the present study, we have performed the systematic mutation screening of the COI/tRNA(Ser(UCN)) genes in 250 unrelated Polish subjects with hearing impairment. Three different homoplasmic sequence variants were identified, including one common polymorphism m.7476 C>T in tRNA(Ser(UCN)) and two mutations, m.7444 G>A and m.7445 A>G localized in the COI/precursor of tRNA(Ser(UCN)). The incidence of m.7444 G>A substitution was estimated at 1.6% (4/250), however variable penetrance of hearing loss, age of onset and hearing thresholds among m.7444 G>A carriers was observed. Two subjects had the positive history of aminoglycoside exposure and one of them harbored both m.7444 G>A and 12S rRNA m.1555 A>G mutations. Those suggest that m.7444 G>A itself is not sufficient to produce a clinical phenotype and additional modifier factors are required for pathogenic manifestation of m.7444 G>A substitution. Moreover, we have described the first Polish family with non-syndromic hearing loss, harboring m.7445 A>G mutation. The penetrance of hearing loss in this pedigree was 58% when aminoglycoside-induced hearing impairment was included, and 8% when ototoxic effect was excluded. This finding strongly suggests the possible role of m.7445 A>G in susceptibility to aminoglycoside induced-hearing loss.
Molecular Genetics and Metabolism 05/2011; 104(1-2):153-9. · 3.19 Impact Factor
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ABSTRACT: To present the results of recurrent respiratory papillomatosis (RRP) treatment with surgical excision and adjuvant anti-viral cidofovir intralesional use and to examine the correlation between the cidofovir effectiveness and the patient previous history of multiple larynx procedures, age, extension of lesion and dose. 32 patients with laryngeal papillomas were treated with cidofovir in our Department between I.2009 and I.2011. The number of previous RRP debulking procedures ranged from 1 to 100. The intensity of papillomatosis differed from one anatomic site and moderate growth to four or five localizations with heavy extension. The number of injections per patient varied from 1 to 7, and the total volume of 5 mg/ml solution varied from 2 to 33 ml. The injections were combined with laser debulking of the lesions. In disperse papillomata, the injections were administered in particular anatomical sites in 4-6 weeks intervals, in massive lesions injections were repeated in the same anatomical site in 2-4 weeks. Complete remission was observed in 18 out of 32 patients. 13 patients showed remission in a place of cidofovir injection. One patient did not react to the drug. In four patients, new changes in injection places appeared. In two patients, hepatic toxic side effects were observed. Intralesional cidofovir injection has been shown to be an effective and safe therapy for laryngeal papillomatosis and should be considered in those patients who experienced disease relapse.
Archives of Oto-Rhino-Laryngology 04/2011; 268(9):1305-11. · 1.29 Impact Factor
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ABSTRACT: All patients with T1 and T2 laryngeal cancer should be treated with the intent to preserve the larynx. In T3 glottic low-volume tumors, larynx preservation is an appropriate standard treatment option. Supracricoid partial laryngectomy remains a reasonable alternative to radiotherapy for patients with T2-T3 glottic cancer. Prospective clinical study aims to evaluate the oncological results of supracricoid partial laryngectomy as a treatment for selected glottic and supraglottic carcinoma, and to determine the different prognostic factors that may influence local control and survival. In the period of 2000-2007, 145 patients were treated at the academic tertiary referral medical center: ENT Department, University of Medical Sciences, Poznán, Poland. The ages of the analyzed group of patients ranged from 23 to 79, with mean 56.5 age for men and 25 for women. All of the patients had biopsy proven squamous cell carcinoma. Of the 145 patients 82 had glottic cancer and 63 had supraglottic cancer. The patients were staged according to the 2003 edition of the TNM classification established by the AJCC. The pathological TNM classification was additionally taken into consideration. All patients were treated by means of supracricoid and transglottic partial laryngectomy. The type of supracricoid partial laryngectomy was based on tumor localization and extension. Four patients underwent cricohyoidopexy, 57 cricohyoidoepiglottopexy, 65 reconstruction modo Calearo, and 19 modo Sedlacek-Tucker. We performed 21 unilateral selective neck dissections and none bilateral. A nasogastric feeding tube was inserted in all patients, and removed in patients that regained proper swallowing. As a result, we took into consideration the oncological and functional results. Histopathological examination of the operating specimen revealed the presence of dysplasia or invasive carcinoma at the margins, or a close margin of less than 5 mm from the edge of the resection (16 cases). The metastases were found on the neck in three cases, predominantly in the level II (2 cases) and III (1 case). Metastasis was found in one patient that had undergone CHP, Sedlacek-Tucker, and Calearo, respectively. Five patients received postoperative radiotherapy. The decision to use adjuvant radiotherapy was based on the presence of invasive carcinoma at the resection margin and on the presence of multiple positive neck nodes or extracapsular spread of the disease. The Kaplan-Meier estimated 3- and 5-year overall survival rates in the group of 122 because 23 patients did not report for medical check-ups.
Archives of Oto-Rhino-Laryngology 02/2011; 268(6):879-83. · 1.29 Impact Factor
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ABSTRACT: Thirteen laryngeal squamous cell carcinoma cell lines were recently studied by array comparative genomic hybridization (array-CGH) in order to identify recurrent DNA copy number alterations in the tumor genome. A highly amplified region 22q11.2 was found in two of the thirteen cell lines. Two established oncogenes CRKL and MAPK1 are localized in this region, but only CRKL was amplified in both cell lines. Therefore, to check if amplification of either CRKL or MAPK1 genes may be important in the pathogenesis of laryngeal squamous cell carcinoma, the DNA copy number and mRNA expression were measured in a cohort of 17 LSCC cell lines by quantitative real-time PCR (qPCR). For the CRKL gene gains of the copy number were found in 3/17 cell lines, while overexpression was found in 6/17 cell lines. Gains in the copy number for the MAPK1 gene were found in 1/17 cell lines, but overexpression was not detected in any cell line. A highly significant correlation between DNA copy number and expression for CRKL gene, but not for MAPK1 gene was established using the Pearson test. Thereafter, 46 primary samples of laryngeal cancer were tested by qPCR to check for possible gains in copy number of the CRKL gene. Gains were found in 3/46 cases. These results suggest that CRKL, but not MAPK1 is the target oncogene of the rare but recurrent amplification at 22q11.2 in laryngeal squamous cell carcinoma.
Cancer biomarkers: section A of Disease markers 01/2010; 8(1):11-9. · 1.08 Impact Factor
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ABSTRACT: Mutations in mitochondrial DNA are associated potentially with nonsyndromic and aminoglycoside-induced hearing loss. Several nucleotide changes associated with hearing impairment were described; however, a variable frequency of deafness-associated mutations in different populations has been observed. The aim of the present study was to determine the frequency of pathological mutations in mitochondrial 12S rRNA and tRNA(Ser(UCN)) genes in a group of 500 individuals representative of the general population of Poland. Mutational screening of 12S rRNA revealed the presence of three deafness-associated mutations, A827G, T961C, and A1555G, and one potentially pathogenic substitution, T669C. The carrier frequency of pathological mutations was estimated to be 1.2% (6/500) in the general Polish population. A deafness-associated G7444A mutation in the precursor of tRNA(Ser(UCN)) gene was identified in 8/500 (1.6%) unrelated blood donors. Seven nucleotide changes identified in 12S rRNA (G709A, G750A, G930A, T1243C, T1420C, and G1438A) and tRNA(Ser(UCN)) (C7476T), based on a frequency exceeding 1.0%, were considered as polymorphisms of 12S rRNA and tRNA(Ser(UCN)) in the studied population. Mitochondrial 12S rRNA gene seems to be the hot spot for deafness-associated mutations in the Polish population. The relatively high carrier frequency of tRNA(Ser(UCN)) G7444A (1/62) suggests that this substitution might be a nonpathogenic polymorphism in the Polish population.
Genetic Testing and Molecular Biomarkers 05/2009; 13(2):167-72. · 1.11 Impact Factor
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ABSTRACT: Toll-like receptors (TLR) expressed on inflammatory cells play a key role in host defense against pathogens, benefiting the host. TLR are also expressed on tumor cells. To evaluate the role of TLR in tumor cells, we investigated TLR4 signaling effects on human head and neck squamous cell carcinoma (HNSCC). Tumor tissues were obtained from 27 patients with laryngeal and 12 with oral cavity cancers. Normal mucosa was obtained from 10 patients with nonneoplastic disorders. Smears for bacteria were taken from all patients during surgery. TLR4 expression in tumors and HNSCC cell lines (PCI-1, PCI-13, and PCI-30) was detected by reverse transcription-PCR and immunohistochemistry. Cell growth, apoptosis, nuclear factor-kappaB (NF-kappaB) translocation, and MyD88 and IRAK-4 expression, as well as Akt phosphorylation were measured following tumor cell exposure to the TLR4 ligand lipopolysaccharide (LPS). Tumor cell sensitivity to NK-92-mediated lysis was evaluated in 4-hour (51)Cr-release assays. Cytokine levels in HNSCC supernatants were measured in Luminex-based assays. TLR4 was expressed in all tumors, HNSCC cell lines, and normal mucosa. The TLR4 expression intensity correlated with tumor grade. LPS binding to TLR4 on tumor cells enhanced proliferation, activated phosphatidylinositol 3-kinase/Akt pathway, up-regulated IRAK-4 expression, induced nuclear NF-kappaB translocation, and increased production (P<0.05) of interleukin (IL)-6, IL-8, vascular endothelial growth factor, and granulocyte macrophage colony-stimulating factor. TLR4 triggering protected tumor cells from lysis mediated by NK-92 cells. TLR4 ligation on tumor cells supports HNSCC progression.
Cancer Research 05/2009; 69(7):3105-13. · 7.86 Impact Factor
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ABSTRACT: The aim of this paper is to share our experience and observations in running the Universal Neonatal Hearing Screening Program on a national level, present results and indicate some problems that have arisen during these 4 years.
Polish Universal Neonatal Hearing Screening Program started back in 2002 in all neonatal units in Poland. Implemented testing methods consisted of test of transient evoked otoacoustic emission (TEOAE) performed in all new born children in their first 2-3 days of life and auditory brainstem response testing (ABR) conducted on children, who did not meet the TEOAE pass criteria. Additional questionnaire registered information on ototoxic drugs and family history of hearing impairment in every newborn. Diagnosed children were further referred for treatment and rehabilitation.
After 4 years of running the program (between 2003 and 2006) a total number of 1,392,427 children were screened for hearing impairment, what stands for 96.3% of all delivered babies, registered in Poland. The screening program enabled to identify and refer for further treatment 2485 children with various types of hearing loss, 312 with profound (0.02% of population) and 145 with severe sensorineural hearing loss (0.11% of population).
Our results indicate the accuracy of newborn hearing screening which remain an issue. Although improvement is needed in both intervention systems and diagnostic follow-up of hospitals, the Polish Universal Neonatal Hearing Program fully has achieved the main goal, the identification and treatment of hearing impaired children.
International Journal of Pediatric Otorhinolaryngology 11/2008; 72(12):1783-7. · 1.17 Impact Factor
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ABSTRACT: The introduction of prognostic tools to evaluate rehabilitation progress in cochlear implant patients (CI patients) is of great importance. The authors attempted to verify whether the identified 35delG mutation in the GJB2 gene can serve as a valuable indicator for rehabilitation progress of CI patients. A group of 51 subjects was studied. Molecular analysis was based on the identification of 35delG in GJB2. Logopedic assessment was performed with a non-verbal test of seven sounds, evaluating detection, discrimination and identification of the sounds during the first, third and sixth months after implantation. Results indicated that patients with GJB2-related deafness (DFNB1)s achieve better results in rehabilitation, but only at the early stages of rehabilitation. Prolonged rehabilitation equalised differences, which, subsequently, excluded this marker as an indicator for rehabilitation evaluation.
Cochlear Implants International 10/2008; 9(3):132-42.
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ABSTRACT: Laryngeal cancer in Poland is characterized by high levels of morbidity and mortality. The main risk factors for the larynx cancer are alcohol drinking and tobacco smoking. In contrary to well established tobacco-related evidence for an increased risk of larynx cancer, alcohol-related mechanisms of carcinogenesis remain unknown. Nevertheless the effect of alcohol is modulated by polymorphisms in genes encoding enzymes for ethanol metabolism. Hence we investigated the ADH1C *1 genotype and allele frequency in a group of 102 larynx cancer patients with heavy alcohol consumption recruited from the Department of Otolaryngology and Laryngological Oncology of the University of Medical Sciences in Poznan. The data were compared with 112 non-cancer age-matched individuals consuming similar amounts of ethanol. Blood samples were used for analysis of restriction fragment length polymorphism. DNA was isolated from the whole blood leucocytes and PCR with specific primers was used to amplify polymorphic region of rs698 in the ADH1C gene. The method was based on allele detection by Sspl restriction enzyme digestion and after the incubation with enzyme, samples run on an electrophoresis. The statistic analysis was performed to calculate Odds Ratio (ORs), 95% confidence intervals (CIs) and significance. Results suggest a slightly increased risk of larynx cancer for individuals who have inherited the ADH1C *1 allele (rs 698), however they did not reach the level of statistic significance.
Przegla̧d lekarski 02/2008; 65(10):466-9.
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ABSTRACT: Hereditary haemorrhagic telangiectasia (HHT) known also as Rendu-Osler-Weber syndrome is an autosomal dominant disorder characterized by localized angiodysplasia due to mutations in ENG (endoglin, 9q34.1) or ALK-1 gene (the activin receptor-like kinase 1, 12q13). ENG and ALK-1 are found associated with two disease subtypes designated as HHT1 and HHT2, respectively. Subtype HHT1 remains in the frame of interest of laryngology because of frequent bleeding in head and neck region.
The study was designed to identify a genetic background in a large family (29 individuals) with diagnosed HHT. Pedigree analysis showed autosomal dominant pattern of inheritance. Study design comprised segregation analysis to determine locus with subsequent direct sequencing of the gene. Four microsatelite markers (d9s61, d9s65, d12s368, d12s347) with high frequency of heterozygosity in population study were used.
The results concerning heterozygosity ranged from 15% to 53%. The established differences were not sufficient enough to indicate co-segregation of the studied loci. DNA sequence analysis in exon 11 of ENG gene did not reveal mutations. The latter result could be explained by an occurrence of mutations in other exons of ENG.
The study requires continuation for gene identification and precise genotype-phenotype correlation aiming for an improvement of HHT1 therapy.
Otolaryngologia polska. The Polish otolaryngology 02/2008; 62(6):700-4.
