RESUMO
BACKGROUND: Patients with recurrent epistaxis, particularly due to hereditary hemorrhagic telangiectasia (HHT) are recommended to apply topical tranexamic acid (TXA) to reduce bleeding events. Those patients may suffer ciliary dysfunction due to TXA's effects on ciliary beating frequency (CBF) and their consequences. METHODOLOGY/PRINCIPAL: Human nasal epithelial cells were harvested with a nasal brush in 30 healthy subjects. We investigated the CBF in RPMI medium using high-frequency video microscopy. TXA was added to the cells in various concentrations ranging from 2 to 5%, including the therapeutic concentration (2%) and a control (0%). RESULTS: CBF in the control condition was 6.1 ± 1.6 Hz. TXA reduces CBF in a time and concentration dependent manner, to, e.g. 4.3 ± 1.2 Hz with 2% TXA and 3.3 ± 0.9 Hz with 5% TXA after 16-20 min. The differences in CBF were statistically significant for all concentrations of TXA. CONCLUSIONS: TXA has the potential to significantly impair nasal epithelial function. Therefore, frequent or regular topical nasal application of TXA should be done under close monitoring of nasal function, especially in patients with co-morbidities like chronic rhinosinusitis.
Assuntos
Ácido Tranexâmico , Cílios , Epistaxe , Células Epiteliais , Humanos , Mucosa Nasal , Ácido Tranexâmico/farmacologiaRESUMO
The effects of an incorporated button battery as a nasal foreign body with regard to the endonasal structures are serious. The following case report will illustrate this on the case of a 4?-year old boy. The acute treatment consisted of the removal of the battery and the debridement of the necroses. Already these measures required considerable medical expenditure. Reconstructive measures which may be needed in the future, will also require a lot of resources. Button batteries as incorporated nasal foreign bodies can lead to severe damage to the endonasal mucoperichondrium. It can lead to necrosis of the nasal septum cartilage and to consecutive nasal septum perforation. Based on these experiences and a review of literature, the conclusions should be drawn that an incorporated button battery should be considered as an ENT emergency case and the immediate removal of the foreign body should be striven for.
Assuntos
Queimaduras Químicas/diagnóstico por imagem , Fontes de Energia Elétrica , Corpos Estranhos/diagnóstico por imagem , Cavidade Nasal , Obstrução Nasal/diagnóstico por imagem , Biópsia , Queimaduras Químicas/patologia , Queimaduras Químicas/cirurgia , Pré-Escolar , Desbridamento , Diagnóstico Diferencial , Corpos Estranhos/patologia , Corpos Estranhos/cirurgia , Humanos , Masculino , Cavidade Nasal/diagnóstico por imagem , Cavidade Nasal/lesões , Cavidade Nasal/patologia , Cavidade Nasal/cirurgia , Mucosa Nasal/diagnóstico por imagem , Mucosa Nasal/lesões , Mucosa Nasal/patologia , Obstrução Nasal/patologia , Obstrução Nasal/cirurgia , Septo Nasal/diagnóstico por imagem , Septo Nasal/lesões , Septo Nasal/patologia , Necrose , RadiografiaRESUMO
A survey of current literature on the topic of epistaxis revealed only a circumscript number of publications with a high methodologic value. The analysis of these publications showed that there is a controversy on the necessity of routine coagulation tests in epistaxis patients. These tests should only be performed in cases with clinical evidence of a coagulation disorder. Also, there is an ongoing controversy on the value of local cooling with ice or cold packs. Nasal creams and decongestive nose drops have been found to be effective in uncomplicated epistaxis. Rhinoscopically and endoscopically targeted coagulation of bleeding vessels and nasal packing are recommended treatment options. There is a debate on discontinuation of anticoagulant therapy, if INR is within normal limits in Cumadin patients. Intractable epistaxis requires a broad armamentarium of different diagnostic and therapeutic options. Recurrent epistaxis in hereditary syndromes remains to be a challenge, although some advances have been made in diagnosis and symptomatic treatment. Some new medical drugs, as Viagra or Cialis may have nosebleeds as side-effects.
Assuntos
Anticoagulantes/administração & dosagem , Testes de Coagulação Sanguínea/tendências , Embolização Terapêutica/tendências , Epistaxe/diagnóstico , Epistaxe/terapia , Hipotermia Induzida/tendências , HumanosAssuntos
Doenças Palpebrais/diagnóstico , Granuloma de Corpo Estranho/diagnóstico , Lipomatose/diagnóstico , Doenças Orbitárias/diagnóstico , Adulto , Diagnóstico Diferencial , Doenças Palpebrais/patologia , Doenças Palpebrais/cirurgia , Pálpebras/patologia , Pálpebras/cirurgia , Granuloma de Corpo Estranho/patologia , Granuloma de Corpo Estranho/cirurgia , Humanos , Obstrução dos Ductos Lacrimais/terapia , Lipomatose/patologia , Lipomatose/cirurgia , Masculino , Doenças Orbitárias/patologia , Doenças Orbitárias/cirurgia , Irrigação TerapêuticaRESUMO
Self-destructive behaviour is prevalent in a variety of different psychiatric disorders. Most common manifestations are self-inflicted cuts to the skin, especially the skin of the forearms. Manifestations of self-destructive behaviour involving the nasal area are rather rare. A series of cases is presented in which nasal diseases were initially misinterpreted, but could finally be identified as factitious disorders. Presented symptoms were foreign body insertions, hemodynamically relevant epistaxis and impetiginous inflammations of the paravestibular skin of the nose. Factitious disorders of the nose should be identified as such for the following reasons: avoiding unnecessary operations, adequate symptomatic rhinologic therapy and the initiation of psychiatric consultation.
Assuntos
Doenças Nasais/psicologia , Comportamento Autodestrutivo/complicações , Adulto , Epistaxe/etiologia , Transtornos Autoinduzidos , Feminino , Corpos Estranhos , Humanos , Impetigo/etiologia , Cavidade Nasal , Automutilação/complicaçõesRESUMO
BACKGROUND: The Staffieri technique is a method for surgical rehabilitation of the voice after laryngectomy. A fistula between trachea and esophagus is created to achieve a so-called "Neoglottis phonatoria". The assignment of the neoglottis is to protect the airways during ingestion and to give the patient a chance to phonate during expiration. PATIENT: The case of a 71-year-old man with aspiration via his Staffieri fistula is presented. The fistula was created in 1979 after laryngectomy because of a laryngeal carcinoma. He also suffered from a metastasized gastric carcinoma which was cured by a 2/3 resection of the stomach in 1970. He is free of recurrence with regard to his oncologic diseases. Until 2003 the patient had no problems with the fistula and was able to phonate well. In 2003 the patient had progressive aspiration via the fistula and the Staffieri fistula was therefore reduced in diameter by surgery. In 2005 the patient presented himself again because of a recurrence of the aspiration. Endoscopy of the upper aerodigestive tract showed healthy mucosa, contrast imaging of the esophagus showed a significant aspiration of the contrast medium into the trachea. Due to these findings a voice prosthesis was inserted into the fistula. This therapy cured the patient from aspiration. He is able to phonate well and has no further complaints. CONCLUSION: Aspiration via a Staffieri fistula is described in about 25 % of cases and therapy is sometimes difficult. Surgical narrowing of the diameter of the fistula is inadequate in most cases and many patients would lose their restored voice if the fistula was closed permanently. Through the insertion of a voice prosthesis aspiration could be stopped and voice was immediately restored.
Assuntos
Laringectomia/reabilitação , Laringe Artificial , Aspiração Respiratória/etiologia , Idoso , Doença Crônica , Endoscopia , Humanos , Neoplasias Laríngeas/cirurgia , Masculino , Voz Alaríngea , Fístula TraqueoesofágicaRESUMO
OBJECTIVES: Controlled hypotension is used to improve surgical conditions during microscopic and endoscopic sinus surgery. Several drug combinations are suitable to provide deep and predictable level of anaesthesia combined with an exact control of intraoperative blood pressure. However, only little is known about the relative importance of the level of hypnosis on the one hand and analgesia on the other hand. STUDY DESIGN: Prospective, randomized, patient and observer-blinded study. METHODS: All 100 consecutive patients received a balanced anaesthesia technique using desflurane and remifentanil. Anaesthesia was desflurane-accentuated with remifentanil-supplementation (DARS-group: 1 MAC desflurane; remifentanil: 0.2 microg x kg(-1) x min(-1)) or remifentanil-accentuated with desflurane-supplementation (RADS-group: desflurane: 0.5 MAC; remifentanil: 0.4 microg x kg(-1) x min(-1)). Administration of anaesthetics performed to maintain a sufficient level of anaesthesia and to keep mean arterial pressure between 60 and 70 mmHg (8-9.3 hPa). The attending ENT-surgeons were unaware of the type of anaesthesia and rated general surgical conditions and the dryness of the operating site on a visual analogue scale (0-10 cm) and on a verbal rating scale immediately after surgery. RESULTS: Blood pressure and heart rate was not different between the two groups. Dryness of the operating site was rated significantly better (p < 0.0001) in the DARS-group (median; 25th/75th-percentile: 2.0; 1.5-3.5 vs. RADS-group: 2.6; 2.0-4.0) but the overall rating of the surgical conditions did not differ between the groups (DARS-group: 2.0; 1.0-2.4 vs. RADS-group: 2.2; 1.5-3.2). Immediate postoperative recovery times were increased in the RADS-group, but there was no difference with respect to fit-for-discharge criteria one hour after surgery. CONCLUSION: Balanced anaesthesia using high dose of desflurane offers small but statistically significant advantages with respect to dryness of the operating site compared to an opioid-accentuated anaesthesia technique. However, since the opioid-accentuated anaesthetic group had a faster immediate recovery both techniques are equally effective for microscopic and endoscopic sinus surgery.
Assuntos
Anestésicos Combinados/administração & dosagem , Anestésicos Inalatórios/administração & dosagem , Anestésicos Intravenosos/administração & dosagem , Endoscopia/métodos , Isoflurano/análogos & derivados , Microcirurgia/métodos , Piperidinas/administração & dosagem , Sinusite/cirurgia , Adulto , Período de Recuperação da Anestesia , Perda Sanguínea Cirúrgica/prevenção & controle , Pressão Sanguínea/efeitos dos fármacos , Desflurano , Eletroencefalografia/efeitos dos fármacos , Feminino , Frequência Cardíaca/efeitos dos fármacos , Humanos , Hipotensão Controlada , Cuidados Intraoperatórios , Isoflurano/administração & dosagem , Masculino , Pessoa de Meia-Idade , Alta do Paciente , Estudos Prospectivos , Remifentanil , Método Simples-CegoRESUMO
INTRODUCTION: The illnesses of celebrity patients always receive more attention from the general public than those of ordinary patients. With regard to cancer, this fact has helped to spread information about the four major malignancies: breast cancer, prostatic cancer, lung cancer and colorectal cancer. Head and neck cancer, on the other hand, is still not well recognised by the lay public, although the risk factors are similar to those of lung cancer. It was the objective of this analysis to identify cases of celebrity patients, the description of which could help to increase awareness of head and neck cancer, its symptoms and risk factors. METHODS: The Internet and medical literature databases were searched for celebrity patients who had suffered from head and neck cancer. RESULTS: The search revealed numerous famous head and neck cancer patients. However, only seven cases were documented well in the medical literature. Among the identified persons were one emperor, two United States presidents, a legendary composer, a world-renowned medical doctor, an outstanding athlete and an extraordinary entertainer. In spite of their exclusive position in society, these patients did not have a better prognosis compared with ordinary patients of their time. Only two of the group experienced long term survival and only one was cured. None of these influential figures used their influence to fund research or to promote knowledge about their respective diseases. CONCLUSION: The identified cases could help increase public awareness of head and neck cancer. Similar to activities in other oncologic fields, current celebrity head and neck cancer patients should be encouraged to discuss their diseases openly, which could have a positive effect on public health.
Assuntos
Pessoas Famosas , Neoplasias de Cabeça e Pescoço/história , Neoplasias de Cabeça e Pescoço/etiologia , Neoplasias de Cabeça e Pescoço/terapia , História do Século XIX , História do Século XX , Humanos , Fatores de Risco , Fumar/efeitos adversosRESUMO
INTRODUCTION: Prenatal tracheal occlusion using endoscopic techniques obstructs the normal egress of lung fluid during pulmonary development and stimulates lung growth in cases of congenital diaphragmatic hernia (CDH). Although FETO might be an effective strategy for treatment of CDH, the mechanism especially due to the supposed increasing transpulmonary pressure is unknown. OBJECTIVE: The purpose of this study was to monitor the pressure below the attached balloon in the fetal lamb telemetrically. METHODS: Four time-dated pregnant Merino ewes underwent fetal and maternal surgery. A special prepared silicone catheter was placed below the epiglottis by laryngoscopy on day 110 or 140 of gestation. The tracheal pressure below the fixed catheter could be monitored telemetrically using the Data Sciences TA11-PA-C40 pressure device. Hundred and twenty measurement points were recorded over a period of 2 min. RESULTS: A maximum of lung pressure rate was found immediately after implantation (23.7 +/- 4.6 mm Hg). During the first hour, the pressure decreased to an average value of 16.9 mmHg. About 70 h after the block, this value decreased to a minimum level of 8.3 +/- 0.4 mmHg. CONCLUSION: Decreasing pressure variation might indicate that lung growth has stopped and that the ideal point of time to remove the balloon is achieved. Increasing pressure has to be related to the morphometric analysis of the lung's structural development and maturation, comparing the efficacy of FETO in preventing or reversing pulmonary hypoplasia. Further investigation of continuous telemetric monitoring of tracheal pressure in the fetal lamb is required.
Assuntos
Oclusão com Balão , Hérnia Diafragmática/terapia , Monitorização Ambulatorial/métodos , Telemetria , Traqueia/fisiologia , Animais , Modelos Animais de Doenças , Feminino , Feto/cirurgia , Hérnias Diafragmáticas Congênitas , Gravidez , Pressão , Índice de Gravidade de Doença , OvinosRESUMO
OBJECTIVE: Teleangiectases are the source of hemorrhage in many HHT patients. Most frequent site of bleeding is the nose and more than 90% of all individuals with HHT suffer from recurrent epistaxis. Despite all efforts, treatment of epistaxis in HHT continues to be a problem for many otorhinolaryngologists, who can alleviate recurrent nosebleeds by Septodermoplasty or laser therapy, but rarely can stop nasal hemorrhages permanently. Recurrence is almost inevitable, but the mechanisms of recurrence are not fully understood. METHODS: Prior to routine Nd:YAG laser therapy of nasal telangiectases the nasal mucosa of 17 patients with HHT according to the clinical diagnostic criteria of the HHT Foundation International was examined with a 0 degrees contact rhinoscope in areas with clinically visible telangiectases as well as in clinically normal mucosa. The digitally recorded images were compared to findings of a group of five healthy volunteers and the findings of five patients with polypoid sinusitis. RESULTS: Visualization of subepithelial vessels was feasible in all individuals of the study group as well as the control groups. Dilated vascular loops and tortuous vessels could be found in the study groups as well as in the control group, but the overall density of telangiectatic vessels was on an average higher in the HHT group. The process of vessel dilatation and tortuous configuration seemed to progress with age. CONCLUSION: Contact endoscopy allows the investigation of the angioarchitecture of capillaries of the nasal mucosa in vivo. This observation may be of significance for studies of nasal diseases, which are accompanied by epistaxis. With this regard it seems to be of special interest for studies of HHT.
Assuntos
Endoscopia/métodos , Terapia a Laser , Nariz/fisiopatologia , Telangiectasia Hemorrágica Hereditária/diagnóstico , Telangiectasia Hemorrágica Hereditária/fisiopatologia , Adolescente , Adulto , Idoso , Criança , Epistaxe/diagnóstico , Epistaxe/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Recidiva , Telangiectasia Hemorrágica Hereditária/terapiaRESUMO
The successful treatment of vascular anomalies depends on profound knowledge of the biologic behavior of vascular lesions and their correct classification. On the base of the clinical course Mulliken and Glowacki developed a biologic classification that was accepted as official classification by the ISSVA (International Society for the Study of Vascular Anomalies). Based on an extended literature research, this manuscript will give an overview of different internationally accepted treatment concepts. Even if a wait-and-see strategy can be recommended in many cases of uneventful hemangiomas in infants the proliferative growth of such lesions requires an adequate treatment indication. Vascular malformations that persist lifelong require treatment in the majority of the cases, especially when clinical symptoms occur. Based on individual parameters such as the diameter, location or growth behavior, different therapeutic options as cryotherapy, corticosteroids, laser therapy, sclerotherapy, surgical intervention and/or embolisation can be performed successfully. None of those treatment concepts, however, represents the only treatment method of choice.
Assuntos
Malformações Arteriovenosas , Face/irrigação sanguínea , Neoplasias Faciais , Neoplasias de Cabeça e Pescoço , Hemangioma , Pescoço/irrigação sanguínea , Corticosteroides/uso terapêutico , Adulto , Fatores Etários , Malformações Arteriovenosas/classificação , Malformações Arteriovenosas/diagnóstico , Malformações Arteriovenosas/cirurgia , Malformações Arteriovenosas/terapia , Criança , Pré-Escolar , Crioterapia , Diagnóstico Diferencial , Neoplasias Faciais/classificação , Neoplasias Faciais/diagnóstico , Neoplasias Faciais/tratamento farmacológico , Neoplasias Faciais/cirurgia , Neoplasias Faciais/terapia , Feminino , Neoplasias de Cabeça e Pescoço/classificação , Neoplasias de Cabeça e Pescoço/diagnóstico , Neoplasias de Cabeça e Pescoço/tratamento farmacológico , Neoplasias de Cabeça e Pescoço/cirurgia , Neoplasias de Cabeça e Pescoço/terapia , Hemangioma/classificação , Hemangioma/diagnóstico , Hemangioma/tratamento farmacológico , Hemangioma/cirurgia , Hemangioma/terapia , Humanos , Lactente , Recém-Nascido , Terapia a Laser , Linfangioma/diagnóstico , Linfangioma/terapia , Masculino , Pessoa de Meia-IdadeRESUMO
BACKGROUND: Diffuse idiopathic skeletal hyperostosis (DISH) may lead to dysphagia caused by osteophytes of the cervical spine. Osteophytes can be resected transorally or transcervically, but operative ablation should not be indicated generously because of the threat of severe complications. PATIENT: A fifty-year-old man with dysphagia and loss of weight of 15 kg in the last three months is presented. He also suffered from a brain damage during infancy which caused grand-mal-seizures. One seizure lead to cardiac arrest which required cardio-pulmonary resuscitation and subsequent tracheostomy. A spheric tumor of the posterior pharyngeal wall could be seen endoscopically, it appeared radiologically as an osteophytic formation of the segments C (3) - C (5). Ossification of the anterior longitudinal ligament was also seen. Diagnosis of DISH was made on the basis of these results. Contrast imaging of the esophagus and videofluoroscopy showed aspiration in terms of neurogenic disorders. The patient received a percutaneous gastrostomy after his case was discussed with neurologic and orthopaedic colleagues, because a causal therapy of the combined disease seemed to be impossible. CONCLUSION: Dysphagia in the presented case was caused by a combination of neurogenic deglutition disorders and oropharyngeal obstruction through osteophytes. Surgical removal of the osteophytes was not indicated because it would have put the patient at a certain risk, but only a part of the underlying problem would have been removed. Symptomatic therapy with a gastrostomy secures normocaloric diet. The patient's weight remained stable and he can follow his habitual daily routine.
Assuntos
Transtornos de Deglutição/etiologia , Hiperostose Esquelética Difusa Idiopática/complicações , Vértebras Cervicais , Transtornos de Deglutição/diagnóstico , Transtornos de Deglutição/diagnóstico por imagem , Transtornos de Deglutição/cirurgia , Fluoroscopia , Gastrostomia , Humanos , Hiperostose Esquelética Difusa Idiopática/diagnóstico , Hiperostose Esquelética Difusa Idiopática/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Fatores de Tempo , Gravação em VídeoRESUMO
BACKGROUND: The corticosteroid dexamethasone and the serotonine3 -antagonist tropisetron are both effective drugs for the prophylaxis of post-operative nausea and vomiting (PONV) when given intravenously. The aim of this trial was to evaluate the oral use of both drugs as part of a routine oral premedication and to compare their single and combined effectiveness. MATERIALS AND METHODS: In this randomized, placebo-controlled, double-blind study, 320 inpatients with a moderate-high risk of PONV (> or = 40% according to two validated risk scores) received an oral premedication 1-2 h pre-operatively with placebo, a fixed dose of tropisetron 5 mg, dexamethasone 8 mg, or a combination of both drugs. A standardized general anaesthesia was performed, including benzodiazepine premedication, propofol, rocuronium, desflurane in air/O2, fentanyl or sufentanil followed by a continuous infusion of remifentanil. Post-operative analgesia and anti-emetic rescue medication were standardized. The main outcome measures were the severity of PONV within the first 24 h (rated by a standardized scoring algorithm). The incidence of PONV was used as the secondary outcome. RESULTS: Data from 310 patients were analyzed. The mean severity score in the placebo-, tropisetron-, dexamethasone- and the combined-groups was 1.37, 0.8, 0.8 and 0.38, respectively. The incidence of PONV of any severity was 59.2%, 37.5%, 40% and 22.8%, respectively. The reduction of the incidence and the severity of PONV were statistically significant with all three interventions. Results from additional analyses suggested that both drugs were equally effective and that there was a simple additive effect of tropisetron and dexamethasone compared with placebo. CONCLUSION: Oral tropisetron and dexamethasone were both equally effective in reducing the severity and incidence of post-operative nausea and vomiting. The latter could be reduced by approximately 35% in a population of moderate-high risk for PONV. Both drugs had an additive effect. However, even in the combination group there still remained an unacceptably high incidence of PONV of more than 20%. This highlighted the need for a multimodal anti-emetic approach in high-risk patients and the importance of treatment of PONV.
Assuntos
Antieméticos/administração & dosagem , Dexametasona/administração & dosagem , Indóis/administração & dosagem , Náusea e Vômito Pós-Operatórios/prevenção & controle , Administração Oral , Adulto , Antieméticos/efeitos adversos , Dexametasona/efeitos adversos , Método Duplo-Cego , Quimioterapia Combinada , Feminino , Humanos , Indóis/efeitos adversos , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Índice de Gravidade de Doença , Resultado do Tratamento , TropizetronaRESUMO
Little is known about the effectiveness of clinical courses as a learning environment. To accurately assess performance in these courses, equal conditions for all candidates are required. We investigated the influence of the proximity of the course to the students test taking, the students' learning styles, and their self-motivation for learning in relation to performance success. One hundred and eleven students were randomized into eight groups, each attending a 2 week course in otolaryngology with a high proportion of patient-related teaching, and a 2 week long course in neurology with a low level of patient-related teaching. All students took multiple-choice end-of-term exams to assess their knowledge in both subjects. There was a different time interval between the course participation and the test taking for each of the groups. Performance success was correlated with the different groups, as well as with the type of learning style (LIST questionnaire) and with motivation for learning (study interest questionnaire). Explorative rank variance analysis showed a significant correlation between students' performance on the written exam and the time interval between completion of the neurology course and test-taking, with the shortest interval corresponding to highest scores (P = 0.002). There was no such effect on the success rate in otolaryngology (P = 0.28). Study motivation was not the major component for performance success, but a strong correlation between the use of strategic and deep learning styles and success in the exam was observed (R = 0.62; P < 0.001). The duration of time between a clinical course with little practical teaching and the students' taking of the exam plays a significant role on performance success; this effect does not occur in a course with a high proportion of practical patient-related teaching. More studies on clinical courses are needed to establish how students can be given adequate opportunities to develop necessary skills for patient care and for objective success on assessment. With such further information, the effectiveness of clinical courses as a learning experience might be enhanced.
Assuntos
Competência Clínica , Educação Baseada em Competências/organização & administração , Educação de Graduação em Medicina/organização & administração , Neurologia/educação , Otolaringologia/educação , Humanos , Aprendizagem , Motivação , Estudantes de Medicina/psicologia , Fatores de TempoRESUMO
Hereditary haemorrhagic telangiectasia (HHT) is an autosomal-dominant disease characterized by recurrent epistaxis, mucocutaneous telangiectasias and visceral arteriovenous malformations. Mutations in endoglin (ENG) and activin A receptor type II-like kinase 1 (ACVRL1 or ALK1) have been found in patients with HHT. We have screened a total of 51 unselected German index cases with the suspected diagnosis of HHT. We identified 30 different mutations in 32 cases (62.7%) by direct sequencing. Among these mutations, 11 of 13 ENG mutations and 12 of 17 ACVRL1 mutations were not previously reported in the literature. Two of the ACVRL1 mutations were each shared by two families. An analysis of the genotype-phenotype correlation is consistent with a more common frequency of pulmonary arteriovenous malformations in patients with ENG mutations than in patients with ACVRL1 mutations in our collective.
Assuntos
Receptores de Activinas Tipo II/genética , Antígenos CD/genética , Mutação , Receptores de Superfície Celular/genética , Telangiectasia Hemorrágica Hereditária/genética , Sequência de Aminoácidos , Malformações Arteriovenosas/complicações , Malformações Arteriovenosas/genética , Endoglina , Genótipo , Alemanha , Humanos , Dados de Sequência Molecular , Fenótipo , Artéria Pulmonar/anormalidades , Veias Pulmonares/anormalidades , Homologia de Sequência de Aminoácidos , Telangiectasia Hemorrágica Hereditária/complicaçõesRESUMO
BACKGROUND AND OBJECTIVE: Hereditary hemorrhagic telangiectasia (HHT) is an inherited autosomal dominant vascular disease, which can cause multiple symptoms, the cardinal one being chronic recurrent nosebleeds. The aim of this study was to determine, whether these chronic recurrent episodes are felt by the patients to be merely isolated episodes or affect their quality of life (QoL). Also assessed was the extent to which QoL is more impaired in patients with HHT than in those with other chronic diseases. PATIENTS AND METHODS: This prospective cross-sectional study was based on a German questionnaire, "Profile of Quality of Life of Chronically Ill Patients"(PLC) together with a newly formulated questionnaire dealing with HHT-specific symptoms. Comparisons were made with German normative reference data, as well as with data from randomly selected patients with various chronic diseases. RESULTS: 90% of patients with HHT considered their recurrent nosebleeds to be the most disturbing symptom, interfering with hobbies and leisure time in 63% of them. Those with HHT had worse results in 5 of 6 PLC scales than those with other chronic diseases such as cardiomyopathy or rheumatic disease. 73% of the patients stated that they would appreciate new ways of treating these nosebleeds. CONCLUSION: There is a great need for optimizing the treatment of chronic recurrent nosebleeds. Lasting reduction of such bleeds by new therapeutic methods seems unlikely to happen in the near future. For this reason multimodal treatment options, including psychological and relaxation techniques, should be considered. Such an approach may reduce the stress on patients (and subsequent nosebleeds) and result in a direct improvement of their quality of life.
Assuntos
Epistaxe/epidemiologia , Epistaxe/psicologia , Qualidade de Vida , Telangiectasia Hemorrágica Hereditária/complicações , Adulto , Idoso , Estudos Transversais , Epistaxe/prevenção & controle , Feminino , Alemanha/epidemiologia , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Recidiva , Inquéritos e QuestionáriosRESUMO
BACKGROUND: Radiofrequency-induced thermotherapy has shown promising results in the palliative treatment of various tumor entities. The purpose of this study was to investigate the effectiveness of bipolar radiofrequency volumetric tissue reduction (VTR) on lymph node (LN) metastases in the VX2 SCC model. MATERIALS AND METHODS: Six male New Zealand white rabbits, with palpable metastatic disease within the parotid lymph nodes, were treated using the Celon-ProSurge probe, needle length 10 mm, diameter of 2.3 mm. The animals were sacrificed on the 4th, 8th, 11th, 14th, 18th and 22nd postoperative days respectively. RESULTS AND CONCLUSION: Bipolar radiofrequency VTR could prevent progression of local metastatic disease in one-third of the animals compared to the control group of untreated VX2 carcinoma rabbits. These results encourage further studies, directed at whether this treatment modality could play a role in the palliative therapy of metastatic LN. Future studies should concentrate on the refinement of the treatment parameters and optimization of the treatment duration.
Assuntos
Carcinoma de Células Escamosas/patologia , Modelos Animais de Doenças , Neoplasias da Orelha/patologia , Metástase Linfática/radioterapia , Metástase Neoplásica/radioterapia , Animais , Carcinoma de Células Escamosas/induzido quimicamente , Neoplasias da Orelha/induzido quimicamente , Impedância Elétrica , Estudos de Avaliação como Assunto , Fibrose/patologia , Neoplasias de Cabeça e Pescoço/patologia , Humanos , Injeções Subcutâneas , Linfonodos/patologia , Linfonodos/efeitos da radiação , Metástase Linfática/patologia , Masculino , Necrose/patologia , Metástase Neoplásica/patologia , Transplante de Neoplasias , Neoplasias Parotídeas/patologia , Neoplasias Parotídeas/secundário , Neoplasias Parotídeas/cirurgia , Coelhos , Biópsia de Linfonodo Sentinela , Fatores de Tempo , Carga Tumoral/efeitos da radiaçãoRESUMO
BACKGROUND: Pulmonary arteriovenous malformations (PAVM) can be found in approximately 20 % to 35 % of patients with hereditary hemorrhagic telangiectasia (HHT). PAVM should be treated since they are a source of paradoxical embolization, potentially resulting in severe neurologic complications. The treatment of choice is the endovascular embolization with coils. PATIENTS AND METHODS: Seven patients with HHT underwent superselective embolization of PAVM detected during screening for PAVM. Four patients had a single PAVM and one patient 3, 4 and 5 PAVMs, respectively. Electrolytically detachable coils were used for embolization. In addition, coils with synthetic fibers were used during 6 embolizations for completion of embolization. RESULTS: Embolization was technically successful in all patients. Complete primary occlusion was achieved in all PAVM. No coil migration or occlusion of unaffected pulmonary arteries was observed. After embolization, one patient developed a small pleural effusion, which was treated symptomatically. CONCLUSION: As a minimally invasive procedure, superselective embolization is the treatment of choice in treating PAVM in patients with HHT. With the use of electrolytically detachable coils, the ideal coil size can be chosen and exact placement achieved without the risk of coil migration or occlusion of unaffected pulmonary arteries.