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1.
Eur Arch Otorhinolaryngol ; 278(8): 2723-2732, 2021 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-32897440

RESUMEN

PURPOSE: Hearing preservation cochlear implantation is an established procedure in patients with low-frequency residual hearing, especially in pediatric cochlear implantation. More delicate, thin electrode arrays can minimize damage in the inner ear and enhance the possibility for residual hearing preservation. The Cochlear® CI532 electrode has been reported as an electrode with the potential for residual hearing preservation. No similar studies pertaining to hearing preservation in pediatric patients have appeared to date. The aim of this study was to investigate whether the Cochlear® CI532 Slim Modiolar electrode allows the preservation of low-frequency residual hearing in children undergoing cochlear implantation. METHODS: In this multicenter, nonrandomized, prospective clinical cohort study, medical data of 14 pediatric patients implanted with the CI532 were collected. All patients had residual low-frequency hearing (preoperative audiogram or ABR with at least one threshold better than 90 dB HL at 125, 250, 500, or 1000 Hz). Postoperative thresholds were obtained 1, 3, 6, and 12 months after cochlear implantation. RESULTS: Based on the HEARRING classification, 78.6% of children (11/14) had complete hearing preservation at the last follow-up visit (12 months after CI, or if not available, 6 months). A total of 21.4% (3/14) had partial hearing preservation. At the last follow-up visit, neither minimal hearing preservation nor loss of hearing was observed. Functional low-frequency hearing was preserved in 13 out of 14 patients (93%). CONCLUSIONS: The residual hearing preservation results in children were superior to the results previously reported in adults.


Asunto(s)
Implantación Coclear , Implantes Cocleares , Percepción del Habla , Audiometría de Tonos Puros , Umbral Auditivo , Niño , Estudios de Cohortes , Audición , Humanos , Estudios Prospectivos , Estudios Retrospectivos , Resultado del Tratamiento
2.
Neurol Neurochir Pol ; 49(5): 302-6, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26377981

RESUMEN

BACKGROUND: Parkinson's disease (PD) is one of the most common diseases of the central nervous system (CNS). It is frequently heralded by speech disturbances, which are one of its first symptoms. AIM: The aim of this paper is to share our own experience concerning the correlation between the severity of speech disorders and the PD duration, its severity and the intake of L-dopa. MATERIAL AND METHODS: The research included 93 patients with idiopathic PD, aged 26-86 years (mean age 65.1 years). Participants were examined neurologically according to the Unified Parkinson's Disease Rating Scale (UPDRS) and the Hoehn and Yahr Scale. They were also assessed by Frenchay Dysarthria Assessment. RESULTS: Considerable and severe disorders were concurrent with impairments in the mobility of the tongue, lips, the jaw as well as the pitch and loudness of the voice. The strongest correlation but at a moderate level was found to exist between the severity of labial impairment, voice loudness and the length of the disease. There was also a positive correlation between lip movement while the motions were being diversified, lip arrangement while speaking and the intake of L-dopa. CONCLUSIONS: As PD progresses a significant decline in vocal articulation can be observed, which is due to reduced mobility within the lips and the jaw. Exacerbation of articulation disorders resulting from progression of the disease does not materially influence the UPDRSS scores. L-dopa has been found to positively affect the mobility of the lips while the patient is speaking and their arrangement at rest.


Asunto(s)
Antiparkinsonianos/uso terapéutico , Trastornos de la Articulación/etiología , Levodopa/uso terapéutico , Enfermedad de Parkinson/tratamiento farmacológico , Adulto , Anciano , Anciano de 80 o más Años , Antiparkinsonianos/administración & dosificación , Antiparkinsonianos/farmacología , Trastornos de la Articulación/tratamiento farmacológico , Trastornos de la Articulación/fisiopatología , Progresión de la Enfermedad , Relación Dosis-Respuesta a Droga , Femenino , Estudios de Seguimiento , Humanos , Maxilares/fisiopatología , Levodopa/administración & dosificación , Levodopa/farmacología , Labio/fisiopatología , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/fisiopatología , Fonación/efectos de los fármacos , Fonética , Rango del Movimiento Articular/efectos de los fármacos , Reflejo Anormal , Respiración/efectos de los fármacos , Índice de Severidad de la Enfermedad
3.
Cancers (Basel) ; 16(2)2024 Jan 22.
Artículo en Inglés | MEDLINE | ID: mdl-38275903

RESUMEN

The accessory parotid gland (APG, Vth level) differs in histological structure from main parotid tissue. This gives rise to the hypothesis, mirrored in clinical observations, that the representation of tumours is different than in the rest of the gland. The aim of the study was to analyse the epidemiological and histological differences of parotid tumours located in regions I-V, with particular emphasis on the distinctiveness of region V. To define the epidemiological factors that will indicate the risk of histological malignancy from clinically benign appearance, multicentre prospective studies conducted between 2017-2021 by five Head and Neck Surgery University Departments, cooperating within the Polish Salivary Network Database 1929 patients (1048 women and 881 men), were included. The age, gender, patient occupation, place of inhabitation, tumour size, clinical features of malignancy, histology, and facial nerve (FN) paresis were analysed for superficial (I_II) and deep (III_IV) lobes and with special regard to the tumours affecting region V. Twenty eight tumours were located exclusively in region V (1.45% total) and seventy-two tumours were found in region V exhibiting extensions to neighbouring regions (3.7% total), characterised as significantly younger and less frequent in retirees. In I-IV regions, approximately 90% of tumours were benign, with pleomorphic adenoma (PA) and Whartin tumour (WT) predominance. In region V, PA exceeded 75% but WT were casuistic (2/28). Incidences of malignancies in region V was 40% but clinical signs of malignancy were evident only in tumours > 4 cm or in the presence of FN paresis. In 19% of patients with a benign appearance, imaging revealed malignancy; however, 38% of patients showed false negative results both in terms of clinical and radiological features of malignancy. Logistic regression models in 28 patients with tumours located exclusively in region V vs. 1901 other patients and in 100 patients with V extension vs. 1829 other patients showed no clinical symptoms of malignancy binding with final malignant tumour histology as a single variable or in combination with other variables. The logistic regression models obtained in this study show strong linkage between tumour location and predictors (age, male gender, and tumour diameter) and also aimed to function as a good classifier. Our conclusion is that, despite the very clear image of the mid-cheek tumour which is easily accessible in palpation and ultrasound examination, it is necessary to improve oncological vigilance and preoperative patient preparation.

4.
Artículo en Inglés | MEDLINE | ID: mdl-38152919

RESUMEN

BACKGROUND: The primary objective of this study was to analyze middle ear structures critical for cochlear implantation using computed tomography. MATERIALS AND METHODS: Patients who underwent cochlear implantation at the Department of Otolaryngology in Szczecin between 2015 and 2022 were eligible for the study. We analyzed computed tomography images of 57 ears in 52 patients. The following parameters were assessed: mastoid aeration, tegmen tympani height, sigmoid sinus position, posterior tympanotomy width, the distance between the facial nerve and chorda tympani, modified facial recess distance, and the prediction line described by other authors. RESULTS: In 69% of patients, after the removal of the round window bony overhang, the round window membrane became fully visible. There were no statistically significant correlations found for parameters describing mastoid process anatomy or those rating the width of the posterior tympanotomy concerning round window access. The prediction lines, according to Kashio and Jwair, were found to be relevant. In cases where patients' access to the niche and membrane of the window was rated as good or very good during clinical evaluation, they were more likely to describe the window as being located posteriorly or medially in the radiological evaluation. Using a binary Jwair scale provided a better correlation with the clinical assessment. In cases where the windows were graded as posterior, the clinical assessment indicated better surgical access, especially to the RWM (Round Window Membrane). CONCLUSIONS: Evaluating middle ear anatomy on a computed tomography scan is useful for preparing for middle ear surgery but does not significantly affect the ability to access the round window. For such access, the position of the window in relation to the facial nerve is the most relevant factor, and measurements based on this relationship hold the highest clinical value.

5.
Front Oncol ; 13: 1222418, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37817765

RESUMEN

Small cell cancer (SCC) is a neuroendocrine neoplasm, which is most frequently found in the lungs. Extrapulmonary location of SCC is rare and may involve 2.5-5% of SCCs. We present a case of a 31-year-old male patient with an extremely uncommon subglottic SCC. The patient was qualified for a radical sequential chemoradiotherapy. After treatment, patient's condition suggested complete remission. Recurrence was detected one year later, and the disease rapidly progressed, despite a second line chemotherapy. The patient died 29 months after initial diagnosis. This case aims to raise awareness on the aggressive laryngeal SCC and its good response to first line chemotherapy composed of cisplatin and etoposide, followed by radiotherapy.

6.
Otolaryngol Pol ; 66(2): 152-4, 2012.
Artículo en Polaco | MEDLINE | ID: mdl-22500507

RESUMEN

INTRODUCTION: Malignant tumors of salivary glands are rare, especially in children. MATERIAL AND METHOD: We present a case report of 14-years-old girl affected by mucoepidermoid cancer of parotid gland. RESULTS: Patient was admitted to our Department in May 2007 due to small, hard, moveable tumor localized in right mandibular angle. The VII nerve function was normal. Fine needle aspiration revealed inflammatory cells without atypical cytologic features. Intraoperative tumor was hard, with irregular surface, surrounded by capsule, connected with the main trunk of facial nerve and cartilaginous part of external auditory meatus. Tumor was excised together with superficial part of parotid gland and surrounding lymph nodes. After operation no signs of facial nerve damage were observed. Postoperative histopathological examination revealed mucoepidermoid cancer, in 2 out of 6 specimens neoplasmatic cells were seen in border of excised tissue. In June 2007 the second operation was performed. Remain part of parotid gland was removed with right facial nerve and conservative lymph node resection. Facial nerve and its branches were reconstructed with sural and great auricular nerve as donor grafts. The symptoms of nerve damage were observed in early postoperative days adequate to 5th degree of House-Brackman scale (HB5). 4 years after operation function of facial nerve is estimated on HB3. The girl is under regular oncological and laryngological control free of neoplasm recurrence. CONCLUSIONS: Diagnostics and treatment of malignant parotid tumors in children are difficult and clinical picture must be always taken into consideration as the most important factor.


Asunto(s)
Carcinoma Mucoepidermoide/diagnóstico , Neoplasias de la Parótida/diagnóstico , Adolescente , Biopsia con Aguja Fina , Carcinoma Mucoepidermoide/patología , Carcinoma Mucoepidermoide/cirugía , Nervio Facial/cirugía , Femenino , Humanos , Escisión del Ganglio Linfático , Neoplasias de la Parótida/patología , Neoplasias de la Parótida/cirugía , Inducción de Remisión , Reoperación , Nervio Sural/trasplante
7.
Medicine (Baltimore) ; 101(46): e31867, 2022 Nov 18.
Artículo en Inglés | MEDLINE | ID: mdl-36401400

RESUMEN

RATIONALE: A case study on the qualification and treatment of profound hearing loss with a cochlear implant in a patient with a positive Tullio effect is described. To our knowledge this is the first such case reported in the literature. PATIENT CONCERNS: A 46-year-old woman was admitted due to sudden hearing loss in the right ear (RE). The patient had suffered from bilateral hearing loss since childhood and was fitted with hearing aids on the RE successfully, in contrast to the left ear. While undergoing pure-tone audiometry, a positive Tullio effect was observed in the RE. The average hearing threshold for the RE was 95 dB. Due to the lack of effective treatment for sudden hearing loss, the patient was qualified for cochlear implantation. The patient's attempts to place a hearing aid on the RE resulted in dizziness. DIAGNOSES: Computed tomography excluded the presence of a perilymphatic fistula, which could have been the cause of the patient's vertigo. INTERVENTIONS: During the surgical procedure of cochlear implantation, considering the possible mechanisms of the Tullio effect, the incus was removed and the niche of the oval window was filled with fragments of connective tissue. The postoperative course was uneventful. OUTCOMES: Three months after implantation, speech intelligibility in the free field was 80% of the correctly repeated elements of the numerical test, at 65 dB sound pressure level. An acoustic stimulation test was performed during tonal audiometry and no preexisting symptoms were observed. LESSONS: A positive Tullio effect does not contraindicate treating hearing loss by means of cochlear implantation. When the Tullio effect is present, it is necessary to exclude presence of perilymphatic fistula. During cochlear implant surgery, in a patient with a positive Tullio effect, it is reasonable to disconnect the ossicular chain with the simultaneous sealing of the oval window niche.


Asunto(s)
Implantación Coclear , Implantes Cocleares , Sordera , Audífonos , Pérdida Auditiva Súbita , Humanos , Femenino , Niño , Persona de Mediana Edad , Implantación Coclear/métodos , Vértigo/cirugía
8.
Otolaryngol Pol ; 63(6): 496-503, 2009.
Artículo en Polaco | MEDLINE | ID: mdl-20198984

RESUMEN

UNLABELLED: For optimalisation glottis morphology and its phonatory function after frontolateral laryngectomy (FLL) the reconstruction of larynx is made; in Clinic of Otolaryngology the most common is using epiglottis wit or without its vertical incision. AIM OF THE STUDY: the influence of widening laryngeal resection and epiglottis incision on shape of reconstructed glottis, level and degree of phonatory closure and perceptive--acoustic characteristic of voice and speech. MATERIAL: 39 patients (38 M and 1 F) after FLL widened of false vocal cord (n = 11), false vocal cord and part of cricoid cartilage (n = 22), whole cricoid cartilage (n = 6). Vertical incision of epiglottis was made in 31 cases. Mean age was 52 (min.-39, max.-70) years. METHODICS: videolaryngoscopic examination, subjective voice estimation using GRBAS scale, objective phonetic--acoustic voice analysis. RESULTS: In videolaryngoscopic examination the most common shape of glottis was irregular triangle (n = 24), rhombus (n = 7), half--moon (n = 2), irregular (n = 6). 2 patients were using whisper. In spectrographic recordings (n = 39) only noise character of stimulation source was in 2 patients, noise--periodic with noise component present in whole acoustic spectrum in 37. F0 for single word and sentence vocalized in affirmative and interrogative form had the value of male voices and its changes during speaking were well noted. In subjective and objective estimation, the worse voice quality was after FLL widened of false vocal cord, part or whole cricoid cartilage. CONCLUSION: 1) FLL with subsequent epiglottoplasty in 94% of patients makes satisfactory morphologic and biophysical conditions for production of voice and sociological efficient speech. 2) Widening resection of false vocal cord, part or whole cricoid cartilage has unbeneficial influence on perceptive--acoustic characteristic of voice and speech.


Asunto(s)
Cartílago Cricoides/cirugía , Epiglotis/cirugía , Glotis/patología , Laringectomía/rehabilitación , Acústica del Lenguaje , Calidad de la Voz , Adulto , Anciano , Anciano de 80 o más Años , Carcinoma de Células Escamosas/cirugía , Femenino , Humanos , Neoplasias Laríngeas/cirugía , Masculino , Persona de Mediana Edad , Polonia , Periodo Posoperatorio , Inteligibilidad del Habla , Voz Esofágica/métodos , Trastornos de la Voz/etiología , Entrenamiento de la Voz
9.
Otolaryngol Pol ; 61(4): 484-6, 2007.
Artículo en Polaco | MEDLINE | ID: mdl-18260236

RESUMEN

The case of acute acoustic and burn ear trauma caused by mobile phone failure is presented. A woman aged 24 after dialling a phone number and putting a phone into the ear heard a sound of high frequency and intensity. At the same time she felt a pain and heat and there was also a smoke from the phone. With otoscopic examination a burn of external acoustic duct (I0) and sensitive hearing loss (examination made with tuning forks) were stated. The patient did not agree to stay in hospital and she was administered prednizone, trimetazidin and xantylol nicotinate. Audiometric examination, which was made on another day, showed hearing loss of 30 dB for frequency 4000Hz. After 2 days she started to hear a sound like a sea noise in her right ear. In the control examination, made 2 weeks after injury, no abnormalities in audiogram were stated but the patient steal heard ear noise. She continued to take trimetazidin and betahistin and after one month all symptoms of ear injury relieved. Patient is still under control of otolaryngologist. Unfortunately our efforts to explain the cause of such accident from phone producer were ineffective. Described case proves that mobile phone failure can be a cause of acute ear injury.


Asunto(s)
Quemaduras/complicaciones , Teléfono Celular , Conducto Auditivo Externo/lesiones , Pérdida Auditiva Sensorineural/etiología , Adulto , Falla de Equipo , Femenino , Pérdida Auditiva Sensorineural/tratamiento farmacológico , Humanos
10.
Otolaryngol Pol ; 61(1): 85-90, 2007.
Artículo en Polaco | MEDLINE | ID: mdl-17605425

RESUMEN

UNLABELLED: Rheumatoid arthritis (RA) is an inflammatory disease of the connective tissue, which can affect larynx and cricoarytenoid (CA) joints, as well. The AIM of this study was assessment of 1) glottis morphology and frequency of laryngeal structures involvement in RA of peripheral joints and 2) evaluation of rheumatoid patients' complaints which can indicate the laryngeal involvement. MATERIAL: 77 patients were examined (71 women and 16 men) in the age from 19 to 77 (mean 56,69). RA duration was from 1 month to 29 years (mean 9,38). RA was active in 61% of patients. METHOD: Anamnesis, physical examination, videolaryngoscopy, computer tomography, electromyography. RESULTS: The most frequent complaints were: foreign body sensation in the throat (51%), hoarseness (47%) with accompanying weakness of voice and dysphagia. In videolaryngoscopic examination swelling and/or redness of mucosal tissue in CA area was observed in 45% of patients. In 3 women impairment of vocal folds was stated, in 1 it was limitation of right vocal fold mobility and in 2 bilateral vocal folds immobility and tracheotomy was necessary. In patients with active RA and with foreign body sensation in the throat significantly more often inflammatory changes in larynx were visible. CONCLUSIONS: 1. Rheumatoid inflammation in the larynx is demonstrated by swelling and/or redness of mucosal tissue in CA area and in some individuals by its immobilization. 2. In the periods of RA intensification complains of foreign body sensation in the throat and hoarseness may indicate on laryngeal involvement. Our study results justify a suggestion of continuation of the morphological and functional changes estimation in patients with peripheral RA.


Asunto(s)
Artritis Reumatoide/complicaciones , Cartílago Cricoides/patología , Glotis/patología , Laringitis/etiología , Laringitis/patología , Adolescente , Adulto , Artritis Reumatoide/fisiopatología , Niño , Femenino , Humanos , Masculino , Persona de Mediana Edad
11.
Otolaryngol Pol ; 60(4): 611-4, 2006.
Artículo en Polaco | MEDLINE | ID: mdl-17152819

RESUMEN

INTRODUCTION: The cephalic zoster is a cranial neuritis, with great tendency to diffusion along the nerves. The objective of this article is both to report a case of cranial polineuritis due to herpes zoster infection with laryngeal involvement and review of the relevant literature. MATERIAL AND METHODS: The case of 57-years-old man with unilateral laryngeal mucosal eruptions and complete left vocal paralysis is reported. Laryngeal symptoms, diagnostic criteria and therapeutic result are described. CONCLUSION: 1. In cases of head and neck herpes zoster, the investigations of all cranial nerves should be carried out, and the larynx must always be examinated; 2. Co-occurrence of the neuralgic pain (radiating especially to the ear or the occipital region) with unilateral laryngeal palsy should raise a suspicion that herpes zoster infection may by the causative factor; 3. The explanation of the etiologic cause of a vocal fold paralysis in idiopathic cases, may yield not only diagnostic, but also therapeutic value.


Asunto(s)
Nervio Accesorio/virología , Herpes Zóster/complicaciones , Herpes Zóster/diagnóstico , Paresia/virología , Nervio Vago/virología , Aciclovir/uso terapéutico , Ceftriaxona/uso terapéutico , Herpes Zóster/tratamiento farmacológico , Herpesvirus Humano 3/efectos de los fármacos , Humanos , Masculino , Persona de Mediana Edad , Resultado del Tratamiento , Parálisis de los Pliegues Vocales/virología
12.
Otolaryngol Pol ; 58(4): 843-9, 2004.
Artículo en Polaco | MEDLINE | ID: mdl-15603400

RESUMEN

Rheumatoid arthritis (RA) is a systemic disease of connective tissue which affects joints lined with synovial membrane. Laryngeal joints also have such a structure. Among all reasons leading to their inflammation rheumatoid arthritis is mentioned on the first place. In larynx RA mostly affects cricoarythenoid joints (CA). RA of the CA joints is found in 27% to 78% suffering from RA. In the acute phase of the disease patients complain of burning and foreign body sensation in the throat, hoarseness, pain on speaking, voice fatigability, problems with swallowing. Chronic RA of the CA joints can lead to their fixation and dyspnoea, requiring emergency tracheotomy. According to the literature, this state occurs in 10% to 25% patients suffering from RA. A case of 75 years old woman is presented, who was admitted to our Clinic with severe inspiratory dyspnoea requiring tracheotomy. She was suffering from RA for 26 years. She complained of effort dyspnoea, problems with swallowing and tightness sensation in the throat for 4 years. Patient complained also about cervical spine pain, upper right extremity and knee joint periodic oedema. The patient was suffering from so severe lower extremities pain and rheumatoid changes in knee joints that she had to walk on crutches. Little hands' joints were deformed with significant ulnarisation. Videolaryngostroboscopic examination showed no movement in CA joints, paramedian position of the vocal folds and narrowing of the glottic rim to 1.5 mm. Phonatory mobility of the vocal folds was preserved. Electromiographic examination of the internal laryngeal muscles made a) during phonation--showed bilateral normal bioelectrical record from thyroarythenoid muscles, b) at rest--there was no denervation activity. In computerized tomography study no degenerative changes in CA joints were found. On the basis of clinical view and examinations results, there was considered that fixation in CA joints was due to degenerative changes, which were the result of their rheumatoid inflammation. It was emphasized that this subject has been mentioned only several times in laryngological and phoniatric handbooks and in few articles.


Asunto(s)
Artritis Reumatoide/fisiopatología , Artritis Reumatoide/terapia , Cartílago Aritenoides/fisiopatología , Cartílago Cricoides/fisiopatología , Articulaciones/fisiopatología , Anciano , Enfermedad Crónica , Femenino , Humanos
14.
Ann Acad Med Stetin ; 53(3): 55-65, 2007.
Artículo en Polaco | MEDLINE | ID: mdl-18595486

RESUMEN

INTRODUCTION: The aim of this study was estimation of glottis morphology and perceptive-acoustic characteristics of voice and speech in patients suffering from rheumatoid arthritis (RA). MATERIAL AND METHODS: 77 patients (51 women and 15 men), 19-77 years of age (average 56,7) with recognized RA. The disease duration was from 1 month to 29 (average 9,4) years. Laryngeal, phoniatric examination and phonetic-acoustic analysis of voice and speech (program IRIS). One patient with bilateral vocal folds immobilization had computer tomography of the larynx and electromiography of internal laryngeal muscles. RESULTS: The most frequent complains were: foreign body sensation in the throat 51% (n = 39/76), hoarseness - 47% (n = 36/76), weakness of voice - 29% (n = 22/76). Redness of the mucosal tissue in the area of arytenoids was stated in 41% (32/77) patients and edema in 28% (21/77). Complains and morphological features of inflammation in the larynx were considerably more frequent in patients with active RA. 3 patients had impairment of vocal folds mobility, in 2 of them it was bilateral immobilization requiring emergency tracheotomy. Subjective voice analysis was made according to GRBAS scale. In 35% (26/75) patients there was G2 or G3 stated. The average time of phonation [a] was 7 seconds. Average basic voice frequency was for women 216 Hz and for men 118 Hz. There was statistically important correlation between increasing of some acoustic voice parameters and RA activity and intensity. CONCLUSIONS: Patient's complains for foreign body sensation in the throat and hoarseness, especially when RA is active, can indicate on inflammatory process in the larynx. For these reason it seems to be reliable to stay in close contact for rheumatologist, laryngologist and phoniatrist in every day practice.


Asunto(s)
Artritis Reumatoide/complicaciones , Glotis/patología , Ronquera/etiología , Trastornos del Habla/diagnóstico , Trastornos de la Voz/diagnóstico , Adulto , Anciano , Femenino , Humanos , Laringitis/diagnóstico , Laringitis/etiología , Masculino , Persona de Mediana Edad , Fonación , Trastornos del Habla/etiología , Trastornos del Habla/patología , Trastornos de la Voz/etiología , Trastornos de la Voz/patología
15.
Breast Cancer Res Treat ; 97(2): 215-9, 2006 May.
Artículo en Inglés | MEDLINE | ID: mdl-16331346

RESUMEN

Recent studies suggest that there are groups of genes that predispose simultaneously to both early-onset breast and laryngeal cancer. Studies were performed on a large series of unselected patients with laryngeal cancer diagnosed in Szczecin, Poland. Pedigrees of 683 laryngeal cancer patients were analysed for the frequency of early-onset and late-onset breast cancer among first degree relatives. The observed frequencies of breast cancer in these families were compared to those expected. In addition, common mutations/variants in the 3 genes BRCA1, NOD2 and CYP1B1, known to be associated with early-onset breast cancer, were assessed to determine their frequency in 348 unselected laryngeal cancers. The average age at diagnosis of LC among patients, who had relatives affected by BC diagnosed under the age of 50 years was 57.62. In comparison LC patients reporting a first degree relative affected by BC diagnosed above 50 years of age, had an average age of diagnosis of 66.00 years, which was significantly different (p=0.0064). Similarly, the average age of diagnosis of BC among patients with LC diagnosed under age of 50 years was 46.7 years and whereas LC patients with tumors diagnosed above 50 years had relatives diagnosed with breast cancer at an average age of 53.37 years, which was significantly different (p=0.02). From the 348 consecutive ascertained laryngeal cancer patients who had molecular studies undertaken, breast cancers among first degree relatives were found in 18 families including 8 with breast cancers diagnosed less than 50 years of age. A molecular basis was identified (the CYP1B1 355T/T genotype) in only 2 of the 8 early cases suggestive of there being additional, as yet unknown genes that are associated with an early-onset laryngeal-breast cancer phenotype.


Asunto(s)
Neoplasias de la Mama/genética , Neoplasias Laríngeas/genética , Edad de Inicio , Hidrocarburo de Aril Hidroxilasas , Proteína BRCA1/genética , Neoplasias de la Mama/patología , Citocromo P-450 CYP1B1 , Sistema Enzimático del Citocromo P-450/genética , Femenino , Predisposición Genética a la Enfermedad , Humanos , Péptidos y Proteínas de Señalización Intracelular/genética , Neoplasias Laríngeas/patología , Persona de Mediana Edad , Mutación/genética , Proteína Adaptadora de Señalización NOD2 , Reacción en Cadena de la Polimerasa , Polimorfismo Genético
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