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2.
Orv Hetil ; 164(34): 1327-1336, 2023 Aug 27.
Artigo em Húngaro | MEDLINE | ID: mdl-37634156

RESUMO

INTRODUCTION: In patients after total laryngectomies, the trachea and the lung can be easily infected by SARS-CoV-2 because the respiration happens through the tracheostoma. OBJECTIVE: The aim of our study was to examine whether patients with LaryTube™ can distribute aerosols to a greater extent than without LaryTube™, and to observe whether the surface of different protective instruments can be examined using the thermal camera in total laryngectomees. An important objective was also to confirm the assumption that the use of HME (heat and moisture exchanger) alone does not provide protection during COVID-19 pandemic. Finally, during our tests, we tried to get an answer to our assumption that the sample taken from the inner surface of the HME can be tested for SARS-CoV-2. METHOD: A total of 23 patients who underwent total laryngectomies were analyzed by velocity measurements and thermal imaging with and without HMEs and laryngeal tubes, using different types of PPEs. COVID-19 PCR testing was performed on patient tracheas and the inner surfaces of the HMEs. RESULTS: Male patients with laryngeal tubes without HMEs demonstrated an increase in exhaled airflow velocity of more than 43% compared to male patients without laryngeal tubes; in female patients, the same value was more than 39%. Thermal imaging results confirmed that the lowest surface temperature was measured on FFP2 masks. The sent samples can be tested for SARS-CoV-2 using PCR, the presence of the virus was not detected. CONCLUSION: Laryngectomized patients without laryngeal tubes pose a lower risk for spreading viral aerosols due to the reduced velocity of the exhaled airflow caused by the absence of the tube as the narrowing factor. Patients with laryngeal tubes who undergo total laryngectomies during the COVID-19 pandemic should use HMEs with viral filter, if possible, also changing the laryngeal tubes to dermal adhesives for fitting their HMEs seems to be the best option. The surface of the used protective equipment can also be examined with thermal camera in the case of total laryngectomees. COVID-19 PCR testing of the tracheal secretion from the inner HME surfaces should become a routine in clinical practice if deemed necessary. Orv Hetil. 2023; 164(34): 1327-1336.


Assuntos
COVID-19 , Humanos , Feminino , Masculino , COVID-19/diagnóstico , Pandemias , SARS-CoV-2 , Ultrassonografia , Pulmão
3.
Orv Hetil ; 163(27): 1061-1065, 2022 Jul 03.
Artigo em Húngaro | MEDLINE | ID: mdl-35895470

RESUMO

The Kikuchi-Fujimoto disease (histiocytic necrotizing lymphadenitis) is an autolimited process, which can be caused by viral agents like Epstein-Barr virus, human herpes virus, HIV, B19 parvovirus, paromyxoviruses, SARS-CoV-2, Toxoplasma and Yersinia. The correct diagnosis is based on histological findings. A 45-year-old female patient presented in our ambulatory room with a unilateral neck mass, fever, dysphonia and dysphagia. The patient was double-tested positive for SARS-CoV-2 approximately 1 month before the symptoms started. Before examination, the nasopharyngeal rapid test for SARS-CoV-2 resulted negative. After hospitalization, intravenous antibiotic (Augmentin, 3 x 1.2 g; Klion, 2 x 100 mg) and steroid (Solu-Medrol, 2 x 125 mg) therapy were administered. The neck and chest CT described a right-sided retropharyngeal abscess with bilateral neck lympadenopathy. Urgent tracheotomy, neck dissection and lymph node biopsy were made. The intraoperative findings excluded the presence of the abscess. The histological findings confirmed the necrotizing histiocytic lymphadenitis. Despite of the fact that the Kikuchi-Fujimoto disease is autolimited, we can see that, in this particular case, the lymphadenopathy after the SARS-CoV-2 infection caused a life-threatening situation. The formed extratissular liquid imitated the image of a retropharyngeal abscess. In the searched worldwide literature, similar intervention for this type of process was not described. Tracheotomy, neck dissection and removing the lymph nodes as ,,trigger zones used the full recovery of the patient. In the future, we consider important proving and clarifying the correlation between SARS-CoV-2 and Kikuchi-Fujimoto disease.


Assuntos
COVID-19 , Infecções por Vírus Epstein-Barr , Linfadenite Histiocítica Necrosante , Abscesso Retrofaríngeo , COVID-19/complicações , COVID-19/diagnóstico , Diagnóstico Diferencial , Infecções por Vírus Epstein-Barr/diagnóstico , Infecções por Vírus Epstein-Barr/patologia , Feminino , Herpesvirus Humano 4 , Linfadenite Histiocítica Necrosante/complicações , Linfadenite Histiocítica Necrosante/diagnóstico , Linfadenite Histiocítica Necrosante/tratamento farmacológico , Humanos , Linfonodos , Pessoa de Meia-Idade , Abscesso Retrofaríngeo/diagnóstico , Abscesso Retrofaríngeo/patologia , SARS-CoV-2
4.
Orv Hetil ; 162(15): 595-600, 2021 04 02.
Artigo em Húngaro | MEDLINE | ID: mdl-33798105

RESUMO

Összefoglaló. A lateralis cysticus nyaki terimék két leggyakoribb oka a branchiogen cysta és a cysticus nyaki áttét. Az átfedo lokalizáció (a leggyakrabban a IIA nyaki régióban), a betegek életkora és az esetenként hirtelen kezdet alapján a két leggyakoribb ok differenciáldiagnózisa nagy kihívást jelenthet. Egy hirtelen fellépo fájdalmas, bal oldali nyaki duzzanattal, dysphagiával és lázzal jelentkezo 72 éves férfi esetét ismertetjük. A nyak komputertomográfiás vizsgálata egy 6 cm legnagyobb átméroju, vastag falú, többrekeszes cysticus terimét igazolt. Infektív branchiogen cysta lehetoségére gondolva az elváltozást eltávolítottuk. A szövettan azonban p16-pozitív laphámrákot igazolt. A primer tumort végül az ipsilateralis tonsilla palatina állományában sikerült azonosítani. A beteg definitív radioterápiában részesült, és 18 hónappal a diagnózis után tumormentes. A nyaki cystákon, az infektív nyaki cystákon és a cysticus metastasisokon kívül a humán papillómavírussal összefüggo szájgarati laphámrákok infektív cysticus vagy necroticus metastasisait is figyelembe kell venni a lateralis cysticus nyaki terimék differenciáldiagnózisában. Orv Hetil. 2020; 162(15): 595-600. Summary. Branchial cleft cysts and cystic neck metastases are the two most common causes of cystic lateral neck masses. Based on the overlapping location (neck level IIA), patient age at onset and the occasionally sudden onset, their differential diagnosis is challenging. We present a 72-year-old male presenting with a suddenly emerging painful, left-sided neck swelling, dysphagia and fever. Computed tomography showed a 6 cm thick-walled multicystic mass. With the suspected diagnosis of an infected branchial cleft cyst, the lesion was removed. Histology confirmed p16 positive squamous cell carcinoma. Primary tumor was identified in the ipsilateral palatine tonsil. Definive radiotherapy was performed and the patient is free of disease at the 18-month follow-up. Beyond pure and infected branchial cleft cysts and pure cystic metastases, infected cystic or necrotic metastasis of human papillomavirus associated oropharyngeal squamous cell carcinoma should be included in the differential diagnosis of cystic lateral neck lesions. Orv Hetil. 2021; 162(15): 595-600.


Assuntos
Neoplasias de Cabeça e Pescoço , Inflamação , Idoso , Neoplasias de Cabeça e Pescoço/diagnóstico por imagem , Humanos , Inflamação/diagnóstico por imagem , Masculino , Tomografia Computadorizada por Raios X
5.
Orv Hetil ; 161(28): 1181-1185, 2020 07.
Artigo em Húngaro | MEDLINE | ID: mdl-32609626

RESUMO

Parry-Romberg syndrome is a rare, slowly progressive, autolimitated disease, characterized by unilateral facial atrophy. It is usually manifested in childhood and young adulthood. Because of the degree of atrophy and the variety of symptoms, the diagnosis, prognosis, and treatment of Parry-Romberg syndrome are a major challenge. The purpose of this case presentation is to highlight the difficulty of establishing the diagnosis, furthermore, to present the steps of examining the patient and to draw attention to the importance of proper timing of the surgery. Moreover, it wants to emphasize the importance of looking for diseases that often occur with the mentioned syndrome. Orv Hetil. 2020; 161(28): 1181-1185.


Assuntos
Hemiatrofia Facial/diagnóstico , Adulto , Criança , Face , Hemiatrofia Facial/cirurgia , Humanos , Síndrome , Adulto Jovem
6.
Orv Hetil ; 161(21): 889-894, 2020 05.
Artigo em Húngaro | MEDLINE | ID: mdl-32427574

RESUMO

The surgical procedure of orbital foreign bodies with its complications is not yet solved in Hungary. Despite the fact that many specialities are involved, until the present day, an orbital surgical centre was not developed. The main goal of this case report is to highlight the importance of these events, to develop a surgical approach, to recognize and solve the complications if they are present even in the cases of organic foreign bodies affecting more head and neck anatomical regions and structures. Orv Hetil. 2020; 161(21): 889-894.


Assuntos
Corpos Estranhos no Olho/cirurgia , Órbita/lesões , Emergências , Corpos Estranhos no Olho/diagnóstico , Humanos , Hungria , Masculino , Pessoa de Meia-Idade , Órbita/cirurgia , Resultado do Tratamento
7.
J Int Med Res ; 48(2): 300060519860971, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31510822

RESUMO

Hereditary haemorrhagic telangiectasia (HHT; Osler-Weber-Rendu disease) is an autosomal dominant vascular disease characterized by nosebleeds, mucocutaneous telangiectases, visceral arteriovenous malformations (AVM) and a first-degree relative with HHT. Diagnosis is definite if three or four criteria are present. This case report describes a 19-year-old male with incidentally detected polycythaemia and an associated soft-tissue opacity over the left lower lobe on his frontal chest radiogram. He had experienced dyspnoea on exertion since infancy and clubbing at physical examination. Polycythaemia vera, chronic obstructive pulmonary disease, sleep apnoea and cyanotic congenital heart disease were excluded. Chest computed tomography (CT) was initially refused by the patient, but 3 years later he presented with severe epistaxis. Considering the unvarying soft tissue mass and erythrocytosis, an HHT-associated pulmonary AVM (PAVM) was eventually confirmed by chest CT. A pathogenic family-specific ENG c.817-2 A>C mutation was detected in the patient. The large PAVM was successfully treated using AMPLATZER™ vascular plug embolization. A combination of the multisystemic nature of his symptoms, the age-related penetrance of HHT symptoms and insufficient patient compliance delayed the diagnosis of HHT in this current case.


Assuntos
Fístula Arteriovenosa , Malformações Arteriovenosas , Veias Pulmonares , Telangiectasia Hemorrágica Hereditária , Adulto , Malformações Arteriovenosas/diagnóstico por imagem , Malformações Arteriovenosas/genética , Epistaxe , Humanos , Masculino , Telangiectasia Hemorrágica Hereditária/diagnóstico por imagem , Telangiectasia Hemorrágica Hereditária/genética , Adulto Jovem
8.
Clin Rheumatol ; 39(1): 167-175, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31522318

RESUMO

OBJECTIVES: Rheumatoid arthritis (RA) and ankylosing spondylitis (AS) have been associated with generalized and localized bone loss. We conducted a comprehensive study using imaging (dual-energy X-ray absorptiometry, DXA) and laboratory biomarkers in order to determine bone health and to study the effects of anti-tumor necrosis factor (TNF) biologics in RA and AS. PATIENTS AND METHODS: Thirty-six RA and 17 AS patients undergoing 1-year etanercept (ETN) or certolizumab-pegol (CZP) therapy were studied. Bone density was assessed by DXA at baseline and after 12 months. Serum C-reactive protein (CRP), calcium, phosphate, parathyroid hormone (PTH), vitamin D3, osteocalcin, procollagen type I N-propeptide (P1NP), C-terminal telopeptide (ßCTX), osteoprotegerin, sclerostin (SOST), Dickkopf-1 (DKK-1), soluble receptor activator nuclear kappa B ligand (sRANKL), and cathepsin K (cathK) levels were determined at baseline and after 6 and 12 months. RESULTS: TNF-α inhibition was clinically effective. Anti-TNF-α halted further bone loss over 1 year. In general, anti-TNF therapy significantly increased P1NP, SOST levels, and the P1NP/ßCTX ratios, while decreased DKK-1 and CathK production at different time points in most patient subsets. In the full cohort and in RA, baseline and/or 12-month bone mineral density (BMD) at multiple sites exerted inverse relationships with CRP and ßCTX, and positive correlation with SOST. In AS, L2-4 BMD after 1-year biologic therapy inversely correlated with baseline ßCTX, while femoral neck BMD rather showed inverse correlations with CRP. CONCLUSIONS: Anti-TNF therapy slowed down generalized bone loss, in association with clinical improvements, in both diseases. TNF blockade may enhance bone formation and suppress joint destruction. Anti-TNF therapy may act inversely on DKK-1 and SOST. Independent predictors of BMD were SOST and ßCTX in RA, whilst CRP in AS.Key Points• One-year anti-TNF therapy halted generalized bone loss in association with clinical improvement in arthritides.• Anti-TNF therapy may inversely act on DKK-1 and SOST.• Independent predictors of BMD were SOST and ßCTX in RA, while CRP in AS.


Assuntos
Artrite Reumatoide/tratamento farmacológico , Densidade Óssea/efeitos dos fármacos , Certolizumab Pegol/uso terapêutico , Etanercepte/uso terapêutico , Espondilite Anquilosante/tratamento farmacológico , Inibidores do Fator de Necrose Tumoral/uso terapêutico , Absorciometria de Fóton , Proteínas Adaptadoras de Transdução de Sinal/metabolismo , Adulto , Idoso , Idoso de 80 Anos ou mais , Artrite Reumatoide/sangue , Biomarcadores/sangue , Proteína C-Reativa/metabolismo , Feminino , Humanos , Peptídeos e Proteínas de Sinalização Intercelular/metabolismo , Masculino , Pessoa de Meia-Idade , Análise de Regressão , Espondilite Anquilosante/sangue , Adulto Jovem
9.
Orv Hetil ; 160(51): 2007-2011, 2019 Dec.
Artigo em Húngaro | MEDLINE | ID: mdl-31838860

RESUMO

Otosclerosis is a bone remodeling disorder affecting exclusively the human temporal bone which causes small bony lesions in the otic capsule. The symptoms depend on the location and the extent of the otosclerotic foci. Hence, clinically the most relevant sign is the conductive hearing loss due to the stapedial otosclerosis with fixation of the stapes footplate. In many cases, the specific anamnestic features, the age of presentation and usually the absence of tympanic membrane pathology can provide a strong clinical suspicion for otosclerosis. Although audiometric and imaging examinations and VEMP testing can confirm our preoperative diagnosis, the histolopathologic examination of the removed stapes footplate is the most accurate way to determine the diagnosis. Orv Hetil. 2019; 160(51): 2007-2011.


Assuntos
Perda Auditiva Condutiva/etiologia , Otosclerose/diagnóstico , Estribo/patologia , Audiometria , Humanos , Cirurgia do Estribo
10.
Orv Hetil ; 160(34): 1358-1362, 2019 Aug.
Artigo em Húngaro | MEDLINE | ID: mdl-31423832

RESUMO

Introducing the diagnostic protocol and therapy of a rare disease reviewing the worldwide literature named as vagal paraganglioma is our main target. This type is specific for women of middle age, and it is appearing as a unilateral neck mass, with or without Fontaine's sign. Giving a heavy aspect on the ear, nose and throat examination, the most important diagnostic tool is CT-angiography. Carefully looking at the size and relationship with the narrowing arteries, veins, nerves, muscles and bony structures (skull base, cervical spine), in most of the cases we choose the surgical procedure. Orv Hetil. 2019; 160(34): 1358-1362.


Assuntos
Corpos Aórticos/diagnóstico por imagem , Artérias Carótidas/diagnóstico por imagem , Tumor Glômico/diagnóstico por imagem , Paraganglioma Extrassuprarrenal/diagnóstico por imagem , Angiografia , Feminino , Tumor Glômico/patologia , Tumor Glômico/cirurgia , Humanos , Pessoa de Meia-Idade , Paraganglioma Extrassuprarrenal/patologia , Paraganglioma Extrassuprarrenal/cirurgia , Tomografia Computadorizada por Raios X
11.
Orv Hetil ; 160(18): 710-719, 2019 May.
Artigo em Húngaro | MEDLINE | ID: mdl-31030535

RESUMO

Introduction: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant multisystemic vascular disease with a worldwide prevalence of 1 : 5000 - 1 : 10 000. Diagnosis is based on clinical Curacao criteria. Approximately 85% of HHT cases have heterozygous family-specific mutations in the ENG or ACVRL1 genes. Aim: We investigated 23 Hungarian HHT families, established the genetic diagnosis, executed family-screening and confirmed founder effects. Method: Probands were identified by the stratified population screening of the primary attendance area of our institution and from individuals contacting our study group voluntarily. Diagnosis is based on the otorhinolaryngological physical examination completed with characteristic telangiectasis sites, a visceral arteriovenous malformation screening and the sequence analysis of ENG and ACVRL1 genes. The family screening consists of physical examination and genetic screening for the family-specific mutation, followed by the arteriovenous malformation screening in patients with definite/suspected HHT and/or in individuals with the mutation. Results: Sixty-three individuals with family-specific mutations were identified in 22 families, 48 of them with definite and 12 with suspected HHT. Seven ENG and ACVRL1 mutations were detected, respectively; most of these are pathogenic. Three founder mutations were observed. One proband with definite HHT had wild-type alleles in all tested HHT-specific loci. Conclusions: The significance of genetic testing is confirming or excluding HHT in young asymptomatic individuals in families with pathogenic mutations. As ENG and ACVRL1 mutations result in overlapping fenotypes, the genetic testing lacks any prognostic value. The identification of founder effects might simplify the genetic diagnosis of new HHT patients from a given region. Orv Hetil. 2019; 160(18): 710-719.


Assuntos
Receptores de Activinas Tipo II/genética , Endoglina/genética , Mutação/genética , Telangiectasia Hemorrágica Hereditária/diagnóstico , Telangiectasia Hemorrágica Hereditária/genética , Alelos , Endoglina/metabolismo , Predisposição Genética para Doença , Heterozigoto , Humanos , Análise de Sequência
12.
Eur J Hum Genet ; 27(6): 869-878, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30872814

RESUMO

Roma are a socially and culturally distinct isolated population with genetically divergent subisolates, residing mainly across Central, Southern, and Eastern Europe. We evaluated the genetic etiology of hearing impairment (HI) in 15 Hungarian Roma families through exome sequencing. A family with autosomal dominant non-syndromic HI segregating a rare variant in the Calponin-homology 2 domain of PLS1, or Plastin 1 [p.(Leu363Phe)] was identified. Young adult Pls1 knockout mice have progressive HI and show morphological defects to their inner hair cells. There is evidence that PLS1 is important in the preservation of adult stereocilia and normal hearing. Four families segregated the European ancestral variant c.35delG [p.(Gly12fs)] in GJB2, and one family was homozygous for p.(Trp24*), an Indian subcontinent ancestral variant which is common amongst Roma from Slovakia, Czech Republic, and Spain. We also observed variants in known HI genes USH1G, USH2A, MYH9, MYO7A, and a splice site variant in MANBA (c.2158-2A>G) in a family with HI, intellectual disability, behavioral problems, and respiratory inflammation, which was previously reported in a Czech Roma family with similar features. Lastly, using multidimensional scaling and ADMIXTURE analyses, we delineate the degree of Asian/European admixture in the HI families understudy, and show that Roma individuals carrying the GJB2 p.(Trp24*) and MANBA c.2158-2A>G variants have a more pronounced South Asian background, whereas the other hearing-impaired Roma display an ancestral background similar to Europeans. We demonstrate a diverse genetic HI etiology in the Hungarian Roma and identify a new gene PLS1, for autosomal dominant human non-syndromic HI.


Assuntos
Transtornos Cromossômicos/genética , Genes Dominantes , Loci Gênicos , Perda Auditiva/genética , Glicoproteínas de Membrana/genética , Proteínas dos Microfilamentos/genética , Mutação de Sentido Incorreto , Roma (Grupo Étnico)/genética , Substituição de Aminoácidos , Criança , Pré-Escolar , Feminino , Humanos , Hungria , Masculino
13.
Orv Hetil ; 159(36): 1487-1492, 2018 Sep.
Artigo em Húngaro | MEDLINE | ID: mdl-30175607

RESUMO

Our goal was to report a 44-year-old woman with carotid body tumor, and to give a brief and comprehensive presentation about the disease and summarize its complex management. Carotid body tumor is a rare, mostly sporadic, benign head and neck mass originating from the glomus caroticum. It occurs mostly in middle-aged women as a slowly growing, semifix, painless neck mass. The diagnosis is based upon the physical examination (pulsatile mass, Fontaine-sign) and - as the gold standard - CT-angiography. It should be established that preoperative embolisation by digital substraction angiography plays a crucial role in the treatment of carotid body tumors that should be followed by surgical removal. In case of inoperable/irresecable and residual tumors, radiotherapy is the treatment option. The patient was treated in our department in April 2017. Orv Hetil. 2018; 159(36): 1487-1492.


Assuntos
Tumor do Corpo Carotídeo/diagnóstico por imagem , Tumor do Corpo Carotídeo/terapia , Adulto , Feminino , Humanos , Radioterapia Adjuvante , Resultado do Tratamento
14.
Orv Hetil ; 159(30): 1215-1220, 2018 Jul.
Artigo em Húngaro | MEDLINE | ID: mdl-30032667

RESUMO

Otosclerosis can be found exclusively in the human otic capsule of the temporal bone. Its etiology is still unknown. In the past decades, several potential etiopathogenetic factors have been revealed, however, most studies were based on otosclerotic patients diagnosed by clinical symptoms only. The current experience indicates that one third of this group suffer from non-otosclerotic stapes fixation. In our experimental series, we have diagnosed and classified otosclerotic patients based on histologic examination, and analyzed also the pathogenetic factors. Recent data demonstrate that measles virus and rs1800472 SNP of transforming growth factor beta 1 (TGFß1) gene are marked obvious etiologic factors, which have no therapeutic consequences so far. Furthermore, we summarize the genetic and environmental factors to be found in the literature, which may play a fundamental role in the pathogenesis of otosclerosis. Orv Hetil. 2018; 159(30): 1215-1220.


Assuntos
Otosclerose/metabolismo , Otosclerose/virologia , RNA Mensageiro/metabolismo , Estribo/metabolismo , Estribo/virologia , DNA Viral/genética , Feminino , Humanos , Masculino , Sarampo/metabolismo , Sarampo/virologia , Fator de Necrose Tumoral alfa/metabolismo
15.
Int J Pediatr Otorhinolaryngol ; 93: 47-52, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28109497

RESUMO

Carotid body tumors (CBTs) are rare types of extra-adrenal paragangliomas, which originate from the neuroendocrine cells of the adventitial layer of carotid bifurcation. An 8-year-old girl was admitted to our department with left-sided and pulsating neck swelling, which progressively grew over several months. The patient had no family history of CBTs. Computed tomography (CT) and CT angiography (CTA) scans revealed a contrast material enhancing, hypervascularized mass involving the left carotid bifurcation, internal carotid artery (ICA), and external carotid artery (ECA), respectively. Preoperative embolization and surgical resection were performed. Histopathological examination later confirmed a benign CBT. Current follow-up examination revealed no evidence of residual or recurrent tumor. A systemic review of the literature indicates that early diagnosis, and experienced multi-disciplinary management is required in case of unilateral, resectable forms of CBTs with no distant metastasis, in order to provide a long-time survival of patients. Surgical intervention of unilateral, solitary CBTs with preoperative embolization is a relatively safe procedure, allowing complete tumor removal with minimal morbidity and low recurrence rate.


Assuntos
Tumor do Corpo Carotídeo/terapia , Embolização Terapêutica/métodos , Artéria Carótida Primitiva/patologia , Tumor do Corpo Carotídeo/diagnóstico por imagem , Criança , Feminino , Humanos , Pediatria , Tomografia Computadorizada por Raios X/métodos , Resultado do Tratamento
16.
Case Rep Oncol Med ; 2017: 4283570, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29527365

RESUMO

Optic nerve astrocytomas (ONAs) are frequent types of optic nerve gliomas (ONGs), which can affect the visual pathway. An 18-year-old male patient was admitted to our department with right-sided intraorbital/retrobulbar swelling, which progressively grew over several months. Clinical examination showed right-sided diplopia, mydriasis, low visual acuity (0.4), exophthalmus (3 cm), epiphora, and severe retrobulbar pain. There was a family history of high-grade (IV) astrocytomas in which two of the family members died due to the disease. Preoperative MRI scan revealed a soft tissue mass around the retrobulbar area of the right eye with intact orbital bony walls. Surgery was performed whereby it was dissected freely from the muscles and was separated from the optic nerve and the globe. Histopathologic analysis confirmed a benign astrocytoma. The follow-up examination revealed no recurrent or residual tumor. A systemic review of the literature indicates that early diagnosis and experienced multidisciplinary management are required in case of unilateral, resectable forms of ONAs with no distant metastasis, in order to provide a long-time survival of patients. Surgical intervention of unilateral ONAs is a relatively safe procedure, allowing complete or partial tumor removal with minimal morbidity and low recurrence rate.

18.
Eur Arch Otorhinolaryngol ; 273(1): 63-72, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25559466

RESUMO

This prospective case review was performed with the aim to compare and asses the diagnostic values of cone-beam computed tomography (CBCT) and high-resolution computed tomography (HRCT) in the preoperative evaluation of otosclerosis. A total of 43 patients with histologically confirmed stapedial otosclerosis, who underwent unilateral stapedectomies were analyzed. Preoperative temporal bone CBCT and HRCT scans were performed in all cases. Both CBCT and HRCT imaging were characterized by a slice thickness of 0.4-0.625 mm and multiplanar image reconstruction. Histopathologic examination of the removed stapes footplates was performed in all cases. Findings of CBCT and HRCT were categorized according to the modified Marshall's grading system (fenestral or retrofenestral lesions). Histopathologic results were correlated with multiplanar reconstructed CBCT and HRCT scans, respectively. Negative control groups for CBCT (n = 36) and HRCT (n = 27) examinations consisted of patients, who underwent CBCT imaging due to various dental disorders or HRCT analysis due to idiopathic sudden sensorineural hearing loss. Histologically active foci of otosclerosis (n = 31, 72 %) were identified by both CBCT and HRCT in all cases with a sensitivity of 100 %. However, CBCT could not detect histologically inactive otosclerosis (n = 12, 23 %; sensitivity 0 %). In contrast, HRCT showed inactive otosclerosis with a sensitivity of 59.3 %. According to CBCT results, no retrofenestral lesions were found and the overall sensitivity for hypodense lesions was 61.37 %. In conclusion, CBCT is a robust imaging method in the detection of histologically active fenestral hypodense foci of otosclerosis with high sensitivity and radiologic specificity. In the light of these results, HRCT still remains the basic imaging method in the preoperative diagnosis of otosclerosis, since it has much greater sensitivity and specificity in the detection of retrofenestral hypodense lesions and histologically inactive otosclerotic foci in the oval window niche.


Assuntos
Tomografia Computadorizada de Feixe Cônico , Otosclerose/diagnóstico por imagem , Estribo/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodos , Adolescente , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Cuidados Pré-Operatórios , Estudos Prospectivos , Sensibilidade e Especificidade , Estribo/patologia , Cirurgia do Estribo , Adulto Jovem
19.
Eur Arch Otorhinolaryngol ; 273(5): 1131-6, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-26018979

RESUMO

The aim of this retrospective study was to compare the 3-month postoperative hearing results following laser stapedotomy with the use of NiTiBOND versus Nitinol prostheses (31 and 39 patients, respectively). The operations were performed between September 2012 and September 2014, and between March 2006 and December 2012 regarding NiTiBOND and Nitinol, respectively. Twenty of the consecutive 31 patients were female and 11 were male for NiTiBOND, while 11 were male and 28 were female for Nitinol. The mean age was 43.8 years (range 22-61) and 46.9 years (range 28-83) for NiTiBOND and Nitinol, respectively. No significant cochlear trauma was documented postoperatively. The mean air-bone gap (ABG) for the frequencies 0.5, 1, 2 and 3 kHz at the 3-month postoperative follow-up was 7.6 dB (SD 4.7), and 9.3 dB (SD 4.1) for NiTiBOND and Nitinol, respectively. The differences between the mean pre- (p = 0.179), and postoperative (p = 0.059) ABG of the two groups were not significant. ABG closure within 10 dB was achieved in 77.4 and 59 % for NiTiBOND and Nitinol, respectively, the difference was not significant (p = 0.10). Two cases of delayed facial paralysis occurred, 1 with Nitinol and 1 with the NiTiBOND. All patients attained an ABG <20 dB following surgery. Laser stapedotomy with the application of either heat-memory piston prosthesis allowed an easy and minimally invasive approach with excellent short-term hearing results when the NiTiBOND prosthesis was applied. Laser application allowed manipulation in a bloodless environment and avoided manual crimping of the incus.


Assuntos
Perda Auditiva/terapia , Prótese Ossicular , Desenho de Prótese , Implantação de Prótese , Cirurgia do Estribo/instrumentação , Adulto , Idoso , Idoso de 80 Anos ou mais , Ligas , Feminino , Perda Auditiva/diagnóstico , Perda Auditiva/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Cirurgia do Estribo/métodos , Resultado do Tratamento , Adulto Jovem
20.
Biomed Res Int ; 2014: 639896, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24683550

RESUMO

Cholesteatoma is an epidermoid cyst, which is most frequently found in the middle ear. The matrix of cholesteatoma is histologically similar to the matrix of the epidermoid cyst of the skin (atheroma); their epithelium is characterized by hyperproliferation. The c-MYC protooncogene located on chromosome 8q24 encodes a transcription factor involved in the regulation of cell proliferation and differentiation. Previous studies have found aneuploidy of chromosome 8, copy number variation of c-MYC gene, and the presence of elevated level c-MYC protein in cholesteatoma. In this study we have compared the expression of c-MYC gene in samples taken from the matrix of 26 acquired cholesteatomas (15 children and 11 adults), 15 epidermoid cysts of the skin (atheromas; head and neck region) and 5 normal skin samples (retroauricular region) using RT-qPCR, providing the first precise measurement of the expression of c-MYC gene in cholesteatoma. We have found significantly elevated c-MYC gene expression in cholesteatoma compared to atheroma and to normal skin samples. There was no significant difference, however, in c-MYC gene expression between cholesteatoma samples of children and adults. The significant difference in c-MYC gene expression level in cholesteatoma compared to that of atheroma implies a more prominent hyperproliferative phenotype which may explain the clinical behavior typical of cholesteatoma.


Assuntos
Colesteatoma da Orelha Média/genética , Proteínas Proto-Oncogênicas c-myc/genética , Adolescente , Adulto , Idoso , Estudos de Casos e Controles , Criança , Pré-Escolar , Colesteatoma da Orelha Média/cirurgia , Demografia , Feminino , Regulação da Expressão Gênica , Humanos , Masculino , Pessoa de Meia-Idade , Placa Aterosclerótica/genética , Proteínas Proto-Oncogênicas c-myc/metabolismo , Pele/patologia , Adulto Jovem
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