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A case of mpox pharyngitis in absence of cutaneous lesions is reported. Usually, clinical presentation is either a cutaneous eruption or a combination of cutaneous and mucosal lesions. In patients with atypical pharyngitis, regardless of the presence of skin lesions, pharyngeal swabs should be collected to rule out mpox.
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Enchondromas, common benign intramedullary cartilaginous tumors, typically arise asymptomatically in metaphysis and diaphysis. We report a case diagnosed and treated for a giant sinonasal enchondroma, an extremely uncommon localization. Few cases have been reported in this location, and additional data is needed to draw conclusions regarding the potential for malignancy. Supplementary Information: The online version contains supplementary material available at 10.1007/s12070-024-04620-z.
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BACKGROUND: Iodine contrast-induced sialadenitis (CIS) is an uncommon adverse effect to iodine-containing contrast exposition. There is scarce literature about its clinical course and demography. OBJECTIVES: (1) To determine the clinical course and management of CIS. (2) To understand if CIS might be as rare as reported. MATERIAL AND METHODS: A 2-month prospective observational study was conducted in the emergency room of a tertiary institution. ENT physicians on call received clinical formation about CIS while emergency physicians did not. During the study period, patients admitted at the emergency room matching the clinical and radiological features of CIS, were included. Information about demographics, iodine exposure, diagnostic workup, clinical course, and management was analyzed. RESULTS: ENT physicians on call detected 4 cases, however, emergency physicians did not. Patients were aged 68-76 years and presented a bilateral submandibular gland swelling debuting 12 to 72 h after an exposure to iodinated contrast. Characteristic ultrasonographic findings supported the diagnosis and the clinical course was self-limited after 60 to 150 h. CONCLUSIONS AND SIGNIFICANCE: Physicians' familiarity with CIS allows its detection and avoids costly and potentially harmful therapeutic/diagnostic efforts. The incidence is probably underestimated; however, further incidence studies are needed.
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Iodo , Sialadenite , Humanos , Iodo/efeitos adversos , Sialadenite/diagnóstico , Sialadenite/diagnóstico por imagem , Meios de Contraste/efeitos adversos , Glândulas Salivares , Progressão da Doença , Glândula SubmandibularRESUMO
INTRODUCTION: SARS COV-2 infection is an emerging disease that has become a global pandemic since the beginning of 2020. To reduce transmission, measures have been imposed by governments such as home confinement, the use of masks, social distancing or promotion of hand hygiene. The aim of this study is to determine if the measures adopted to reduce the COVID-19 pandemic have produced a decrease in the incidence of infectious diseases and their complications in the ENT area in our center. MATERIAL AND METHODS: A retrospective descriptive study was carried out in a tertiary hospital of patients aged between 0 and 15 years who required admission due to deep cervical infections, complications derived from acute otitis media (mastoiditis or facial paralysis) or complicated acute sinusitis. RESULTS: There is a notable decrease in the number of global admissions in the COVID period (9) compared to the average of the previous 5 years (20.1). Likewise, there are statistically significant differences in the number of admissions for cervical infections (p value=0.027) and complications derived from acute otitis media (p value=0.029). DISCUSSION/CONCLUSION: A decrease in the number of admissions caused by complications of infections in the ENT area in paediatric patients has been observed after the start of the COVID-19 pandemic in our environment, this fact could be explained by a global decrease in the number of infections of the upper respiratory tract due to the hygienic measures taken by the COVID-19 pandemic.
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The lingual abscess is rare due to several protective mechanisms against infection in this location. Concretely, the abscess in the base of the tongue (posterior lingual abscess) is even more exceptional. Its prompt detection is crucial to avoid potentially fatal airway complications. To familiarize physicians with this condition, we report 2 cases of posterior lingual abscess. Both were referred to our emergency department due to minor oropharyngeal complaints. Finally, both were diagnosed and required surgical drainage. The clinical evolution was successful: both were discharged in less than 72 hours and follow-up one week later confirmed clinical recovery.
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Fallopian canal meningocele is an extremely rare cause of cerebrospinal fluid rhinorrhoea. Also, due to complex anatomical relations and a lack of experience, its management remains a challenge. Here we report a case focusing on its clinical course, radiological features, and management.
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The labyrinthine bifurcation of the facial nerve is extremely rare. Diverse congenital temporal bone anomalies usually coexist, and a detailed preoperative evaluation is needed to detect them. We report a case of labyrinthine bifurcation of the facial nerve detected on the preoperative evaluation of a patient with congenital aural atresia.
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The displacement of a dental root fragment into the maxillary sinus is a serious complication of tooth extraction that can give rise to maxillary sinusitis. The condition can become chronic if the intrasinusal foreign body is not promptly removed, and Aspergillus fumigatus superinfection may ultimately result, forming a fungus ball. The present study describes the case of a 50-year-old man with fungal rhinosinusitis caused by the accidental displacement of a dental root over 25 years ago. The prolonged and atypical course of the disorder produced long diagnostic and therapeutic controversy, and justifies the publication of this clinical case, which affords useful information for routine clinical practice. Key words:Odontogenic maxillary sinusitis, fungus ball, tooth displacement, aspergillosis, diagnostic and therapeutic controversy.
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Diagnosis testing for primary ciliary dyskinesia (PCD) requires a combination of investigations that includes study of ciliary beat pattern by high-speed video-microscopy, genetic testing and assessment of the ciliary ultrastructure by transmission electron microscopy (TEM). Historically, TEM was considered to be the "gold standard" for the diagnosis of PCD. However, with the advances in molecular genetic techniques, an increasing number of PCD variants show normal ultrastructure and cannot be diagnosed by TEM. During ultrastructural assessment of ciliary biopsies of patients with suspicion of PCD, we observed an axonemal defect not previously described that affects peripheral doublets tilting. To further characterize this defect of unknown significance, we studied the ciliary axonemes by TEM from both PCD-confirmed patients and patients with other sino-pulmonary diseases. We detected peripheral doublets tilting in all the PCD patients, without any significant difference in the distribution of ciliary beat pattern or mutated gene. This defect was also present in those patients with normal ultrastructure PCD subtypes. We believe that the performance of axonemal asymmetry analysis would be helpful to enhance diagnosis of PCD.
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The transmandibular route is often combined with the transparotid-transcervical approach when extensive surgical field exposure is required, as in the case of deep parotid lobe tumors measuring over 4 cm in size. This procedure implies great morbidity and prolongs surgery time. Furthermore, in cases where additional lip division is performed, the aesthetic outcomes may be poorer. A description is made of the technique used for the removal of giant pleomorphic adenomas of the parapharyngeal space, without mandibulotomy. Key words:Parapharyngeal space tumor, pleomorphic adenoma, transcervical-transparotid approach, transmandibular approach.
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BACKGROUND: Chronic rhinosinusitis with nasal polyps (CRSwNP) is a clinical entity with specific features that impacts significantly on patient quality of life (QoL). CRSwNP is often associated with asthma and is difficult to control and manage despite pharmacological and/or surgical treatment. Omalizumab, a monoclonal anti-IgE antibody, has emerged as a putative therapeutic option. OBJECTIVE: To evaluate the effects of omalizumab on nasal polyp (NP) size and QoL assessed by Sino-Nasal Outcome Test-22 (SNOT-22) in patients with recalcitrant CRSwNP and mild asthma. METHODS: A multicenter retrospective analysis of patient data from the Community of Valencia (Spain) was performed. Adult patients with recalcitrant CRSwNP and comorbid mild asthma receiving compassionate use of omalizumab were included. NP size measured by total nasal endoscopic polyp score (TPS) and QoL evaluated through the SNOT-22 questionnaire were assessed at baseline and monthly over 12 months. An ordinal regression model was built to analyze the results. RESULTS: A total of 23 CRSwNP patients with a mean age (± SD) of 54.78 ± 9.46 years were included. Nineteen suffered from aspirin-exacerbated respiratory disease (AERD). In all patients, a significant and sustained reduction in TPS was observed over time, accompanied by improvements in QoL reflected in lower SNOT-22 scores. In the ordinal regression model, time but not total IgE, age or tissue eosinophilia impacted on NP size and SNOT-22 outcomes. Additionally, improvements in QoL were not explained by reductions in the size of polyps. CONCLUSION: Omalizumab was effective for the treatment of patients with recalcitrant CRSwNP and mild asthma, even when AERD was present, by reducing NP size and improving QoL; treatment time was a key factor. SNOT-22 improvements were not explained by decreases in TPS, indicating that omalizumab may be effective in all patients, regardless of polyp size.
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Asma , Pólipos Nasais , Rinite , Adulto , Asma/complicações , Asma/tratamento farmacológico , Asma/epidemiologia , Doença Crônica , Humanos , Pólipos Nasais/tratamento farmacológico , Omalizumab/uso terapêutico , Qualidade de Vida , Estudos Retrospectivos , Rinite/tratamento farmacológico , Resultado do TratamentoRESUMO
BACKGROUND AND OBJECTIVE: Vestibular schwannoma is a benign tumour that originates in the eighth cranial nerve. It is termed intralabyrinthine schwannoma (ILS) when it develops in the inner ear, this being a rare origin. We present our experience in the management of three patients with ILS. MATERIALS AND METHODS: The results of tumour excision and cochlear implantation were evaluated in three patients with ILS: two intracochlear schwannomas (ICS) and one intravestibular schwannoma (IVS). RESULTS: Prior to surgery, all patients presented progressive sensorineural hearing loss and tinnitus. Complete tumour resection and cochlear implantation was possible in all patients, with favourable hearing rehabilitation. CONCLUSIONS: The therapeutic approach will depend on tumour size, growth rate, degree of hearing loss and presence of vestibular symptoms. Cochlear implantation (CI) in patients with ILS is possible when the cochlear nerve is present and functional. CI in patients, whether or not preceded by tumour excision, is an option with good hearing results in selected patients.
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Implante Coclear , Implantes Cocleares , Neurilemoma , Vestíbulo do Labirinto , Nervo Coclear , Humanos , Neurilemoma/cirurgiaRESUMO
INTRODUCTION: Primary ciliary dyskinesia (PCD) is characterized by an alteration in the ciliary structure causing difficulty in the clearance of respiratory secretions. Diagnosis is complex and based on a combination of techniques. The objective of this study was to design a gene panel including all known causative genes, and to corroborate their diagnostic utility in a cohort of Spanish patients. METHODS: This was a multicenter cross-sectional study of patients with a high suspicion of PCD, according to European Respiratory Society criteria, designed around a gene panel for massive sequencing using SeqCap EZ capture technology that included 44 genes associated with PCD. RESULTS: We included 79 patients, 53 of whom had a diagnosis of confirmed or highly probable PCD. The sensitivity of the gene panel was 81.1%, with a specificity of 100%. Candidate variants were found in some of the genes of the panel in 43 patients with PCD, 51.2% (22/43) of whom were homozygotes and 48.8% (21/43) compound heterozygotes. The most common causative genes were DNAH5 and CCDC39. We found 52 different variants, 36 of which were not previously described in the literature. CONCLUSIONS: The design and implementation of a tailored gene panel produces a high yield in the genetic diagnosis of PCD. This panel provides a better understanding of the causative factors involved in these patients and lays down the groundwork for future therapeutic approaches.
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Síndrome de Kartagener , Estudos Transversais , Homozigoto , Humanos , Síndrome de Kartagener/diagnóstico , MutaçãoRESUMO
Mixed tumours of the parotid gland are rare in childhood and recurrence of this tumour is infrequent. Some authors report a higher rate of recurrence with some histological subtypes, like hypocellular variant. Female sex and young age at initial treatment are also risk factor for recurrence. Also the first surgical treatment, tumour enucleation or parotidectomy, has been implicated as a cause for recurrence. We present a case of a multicentric doubly recurrent parotid pleomorphic adenoma, 7 and 14 years after tumour enucleation, in a 9-year-old child. All the nodules resected showed the hypocellular variant of pleomorphic adenoma. We consider the relationships between the choice of treatment, the histologic subtypes of pleomorphic adenomas and multifocal tumours and recurrence. In this case, we believe the recurrence was related to surgical enucleation previously performed and the hypocellular histological subtype. We conclude that tumour enucleation is a risk factor for recurrence and total parotidectomy is the treatment of choice for pleomorphic parotid adenoma also in childhood.
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Adenoma Pleomorfo/patologia , Recidiva Local de Neoplasia/patologia , Neoplasias Parotídeas/patologia , Adenoma Pleomorfo/cirurgia , Adolescente , Criança , Feminino , Humanos , Recidiva Local de Neoplasia/cirurgia , Neoplasias Parotídeas/cirurgiaRESUMO
BACKGROUND: Due to the lack of a gold standard diagnostic test, reference centres with experienced personnel and costly procedures are needed for primary ciliary dyskinesia (PCD) diagnostics. Diagnostic flowcharts always start with clinical symptoms. Therefore, the aim of this work is to define differential clinical criteria so that only patients clinically compatible with PCD are referred to reference centres. MATERIALS AND METHODS: 18 variables from 476 Mediterranean patients with clinically suspicious PCD were collected. After analysing cilia function and ultrastructure, 89 individuals were diagnosed with PCD and 387 had a negative diagnosis. Simple logistic regression analysis, considering PCD as a dependent variable and the others as independent variables, was done. In order to define the variables that best explain PCD, a step-wise logistic regression model was defined. Aiming to classify individuals as PCD or PCD-like patients, based on variables included in the study, a classification and regression tree (CART) was designed. RESULTS AND CONCLUSIONS: Simple logistic regression analysis shows statistically significant association between age at the beginning of their symptomatology, periodicity, fertility, situs inversus, recurrent otitis, atelectasis, bronchiectasis, chronic productive cough, rhinorrea, rhinusinusitis and recurrent pneumonias, and PCD. The step-wise logistic regression model selected situs inversus, atelectasis, rhinorrea, chronic productive cough, bronchiectasis, recurrent pneumonias, and otitis as PCD predictive variables (82% sensitivity, 88% specificity, and 0.92 Area Under the Curve (AUC)). A decision tree was designed in order to classify new individuals based on pansinusitis, situs inversus, periodicity, rhinorrea, bronchiectasis, and chronic wet cough.
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OBJECTIVE: To review the results of a series of patients with glottic insufficiency caused by scarred vocal folds who underwent injection laryngoplasty with centrifuged and emulsified autologous fat. STUDY DESIGN: Prospective cohort. SETTING: Single center, tertiary institution. SUBJECTS AND METHODS: Examination of the medical records of 21 patients operated on through injection laryngoplasty with fat grafts for the treatment of dysphonia was performed. All patients were operated on between January of 2015 and September of 2019. The voice variables measured were the GRABS (Grade, Roughness, Breathiness, Asthenia, Strain) scale, the Voice Handicap Index-10 (VHI-10), maximum phonation time, jitter, shimmer, and harmonic/noise ratio before surgery and 8 months later. RESULTS: Twenty-six injection laryngoplasties were performed in 21 patients during the reviewed period. Seventeen were men, and 4 were women. Mean age was 57.2 (range, 18-80) years. Mean (SD) follow-up time was 20.7 (9.3) months. Etiology of dysphonia was scarring after tumor resection in 17 patients and sulcus vocalis in 4. Five patients received an additional injection laryngoplasty. Statistically significant improvements were observed in all the parameters evaluated (P < .05). CONCLUSIONS: Injection laryngoplasty with fat grafts processed through centrifugation and emulsification is an effective technique for the treatment of dysphonia caused by glottic insufficiency related to scarred vocal folds, with minimal complication rates.
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Tecido Adiposo/transplante , Cicatriz/cirurgia , Disfonia/cirurgia , Laringoplastia/métodos , Prega Vocal/cirurgia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Centrifugação , Emulsões , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Transplante AutólogoRESUMO
A cohort of 128 patients from 118 families diagnosed with non-syndromic or syndromic hearing loss (HL) underwent an exhaustive clinical evaluation. Molecular analysis was performed using targeted next-generation sequencing (NGS) with a custom panel that included 59 genes associated with non-syndromic HL or syndromic HL. Variants were prioritized according to the minimum allele frequency and classified according to the American College of Medical Genetics and Genomics guidelines. Variant(s) responsible for the disease were detected in a 40% of families including autosomal recessive (AR), autosomal dominant (AD) and X-linked patterns of inheritance. We identified pathogenic or likely pathogenic variants in 26 different genes, 15 with AR inheritance pattern, 9 with AD and 2 that are X-linked. Fourteen of the found variants are novel. This study highlights the clinical utility of targeted NGS for sensorineural hearing loss. The optimal panel for HL must be designed according to the spectrum of the most represented genes in a given population and the laboratory capabilities considering the pressure on healthcare.
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Surdez/genética , Perda Auditiva Neurossensorial/genética , Sequenciamento de Nucleotídeos em Larga Escala , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-IdadeRESUMO
Primary ciliary dyskinesia (PCD) is an autosomal recessive rare disease caused by an alteration of ciliary structure. Immunofluorescence, consisting in the detection of the presence and distribution of cilia proteins in human respiratory cells by fluorescence, has been recently proposed as a technique to improve understanding of disease-causing genes and diagnosis rate in PCD. The objective of this study is to determine the accuracy of a panel of four fluorescently labeled antibodies (DNAH5, DNALI1, GAS8 and RSPH4A or RSPH9) as a PCD diagnostic tool in the absence of transmission electron microscopy analysis. The panel was tested in nasal brushing samples of 74 patients with clinical suspicion of PCD. Sixty-eight (91.9%) patients were evaluable for all tested antibodies. Thirty-three cases (44.6%) presented an absence or mislocation of protein in the ciliary axoneme (15 absent and 3 proximal distribution of DNAH5 in the ciliary axoneme, 3 absent DNAH5 and DNALI1, 7 absent DNALI1 and cytoplasmatic localization of GAS8, 1 absent GAS8, 3 absent RSPH9 and 1 absent RSPH4A). Fifteen patients had confirmed or highly likely PCD but normal immunofluorescence results (68.8% sensitivity and 100% specificity). In conclusion, immunofluorescence analysis is a quick, available, low-cost and reliable diagnostic test for PCD, although it cannot be used as a standalone test.
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Chondromyxoid fibroma is an infrequent bone tumour in the craniofacial bones and exceptional in the paranasal sinuses. This unusual location, its non-specific clinical manifestation and aggressive behaviour with local destruction and a high recurrence rate can complicate precise diagnosis and treatment.
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Seio Etmoidal , Fibroma , Neoplasias Primárias Múltiplas , Neoplasias dos Seios Paranasais , Fibroma/diagnóstico , Humanos , Masculino , Neoplasias do Seio Maxilar/diagnóstico , Pessoa de Meia-Idade , Neoplasias Primárias Múltiplas/diagnóstico , Neoplasias dos Seios Paranasais/diagnósticoRESUMO
Several histopathological modalities of tumours can grow in the rhinopharynx. Solitary extramedullary plasmocytoma (SEP) is a low frequent variety of low-grade lymphoma. The aim of this work is to present a new case of SEP localized in rhinopharynx and to perform a review of diagnostic and therapeutic protocols of these neoplasias. They must be taken into account in the differential diagnosis of nasopharyngeal tumours.