Publications by authors named "Carla Pinto-Moura"

Background: The repair of nasal septal perforations is challenging. Interposition of polydioxanone (PDS) plates combined with fascia graft have been described in the literature with high success rates.

Aims: This study aims to present a case series on the closure of nasal septal perforation using this technique and to evaluate its outcomes.

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Introduction: Penetrating middle ear trauma-induced pneumolabyrinth is an exceedingly rare finding in pediatric patients. This condition can lead to significant hearing and vestibular dysfunction. We present two pediatric cases, highlighting their clinical complexity.

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Article Synopsis
  • - The study investigates how preoperative and postoperative audiometric results relate to different radiological staging classifications (Veillon classification and Symons-Fanning classification) in patients undergoing stapes surgery for otosclerosis from 2017 to 2022.
  • - A total of 87 patients were analyzed, revealing that the Symons-Fanning classification showed significant associations with various audiometric thresholds, particularly preoperative bone conduction and postoperative air conduction results, while the Veillon classification was linked predominantly to postoperative air conduction.
  • - The findings suggest that the Symons-Fanning classification is better at predicting both preoperative and postoperative bone conduction outcomes, whereas the Veillon classification excels in predicting postoperative air conduction results; both classifications similarly predicted the occurrence of postoperative air
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Introduction And Objectives: Nasal dermoids are uncommon midline congenital lesions in the nose, usually diagnosed in the first years of life. Imaging is mandatory to evaluate local and intracranial extension and treatment consists in surgical excision. This study aims to review the experience of the department in managing pediatric nasal dermoids using a dorsal rhinotomy surgical approach.

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 Clinical and pathological staging plays an important role on the prognosis of head and neck cancer (HNC) patients.  The present study aims to compare clinical and pathological T, N and overall staging in patients with HNC, to identify factors associated with these discrepancies, and to analyze and compare survival or disease-free survival in staging disagreements.  Retrospective cohort including every patient submitted to neck dissection from January 2010 to December 2020 in the department of Otorhinolaryngology of a tertiary hospital center.

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Article Synopsis
  • Autosomal recessive keratitis-ichthyosis-deafness syndrome (KIDAR) is a rare disorder linked to the AP1B1 gene, with only nine cases reported so far, highlighting the need for more clinical observations.
  • The report presents a case of a 14-year-old boy with various health issues, including feeding difficulties, skin problems (ichthyosis), growth delays, and profound hearing loss, and genetic testing confirmed a deletion in the AP1B1 gene.
  • Comparison of this case with existing literature shows consistent major features among patients, suggesting the necessity of additional genetic evaluations to better understand the disorder's spectrum.
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Prenatal diagnosis of orofacial clefts allows adequate counseling and planning for prenatal care and delivery. In 2001, two-dimensional ultrasound screening became universally used in Portugal by government guidelines, and after 2007 more advanced ultrasound became available. This study aimed to describe the prevalence of family history in patients with orofacial clefts and analyze prenatal diagnosis in patients born before 2001, between 2001 and 2007 and after 2007.

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Introduction: Septoplasty is one of the most common surgeries performed by otorhinolaryngologists. The gold standard for the evaluation of septal deviation is anterior rhinoscopy and nasal endoscopy. Frequently, computed tomography (CT) is also performed, although the correlation between septal deviation on CT and physical examination is unclear.

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Cerebral venous sinus thrombosis in children is a rare complication of acute mastoiditis that can potentially be fatal. Clinical expertise is essential for early diagnosis and management due to its subtle course. We present the first known case of paediatric acute mastoiditis with venous sinus thrombosis caused by and .

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Purpose: Facial nerve dysfunction (FND) is a frequent and serious parotidectomy outcome. Intraoperative facial nerve monitoring (IFNM) is an increasingly used technique to identify the facial nerve (FN) and minimize its injury. This study aimed to evaluate the determinant factors in the presence and severity of FND after parotidectomy, including IFNM.

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Purpose: The main objective of this study was to analyze the prognostic role of the initial grade of dysplasia on the progression to SCC.

Study Design: Retrospective cohort.

Methods: This study was performed in the Otorhinolaryngology Department of a tertiary hospital center from January 2010 to December 2020.

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Next-generation sequencing (NGS) technologies revolutionized the molecular diagnosis of sensorineural hearing loss (SNHL) and are now a standard of care. In this study, 71 Portuguese probands with hereditary SNHL were assessed by whole-exome sequencing (WES) targeting a panel of 158 genes related to SNHL, aiming to evaluate the diagnostic yield of this methodological approach and to report the spectrum of variants. Patients with either nonsyndromic or syndromic SNHL were included.

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Cutaneous metastases from squamous cell carcinomas of the head and neck region are uncommon, and their location at the nasal tip is exceptionally rare. A patient, previously treated with surgery and chemoradiation for a hypopharyngeal squamous cell carcinoma, developed several red nodular skin lesions at the nasal tip. Biopsy revealed cutaneous metastasis from the primary tumor.

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Introduction: Acute rhinosinusitis accounts for most of the cases of orbital infections and is the most common cause of periorbital oedema in children. Up to 10% of patients with orbital complications of acute rhinosinusitis may experience vision loss and other complications such as meningitis, intracranial abscess or even death. Therefore, these patients require prompt diagnosis and proper treatment.

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Introduction: Sequence variants in the GJB2 gene account for up to 50% of cases of non-syndromic sensorineural hearing loss in the Caucasian population. In this study, we report the frequency of the less common variants of the GJB2 gene in a Portuguese sample and compare these frequencies with those of a group of hearing-impaired patients.

Material And Methods: In order to select the less common GJB2 variants, 147 hearing-impaired patients followed in Centro Hospitalar Universitário de São João were evaluated.

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Objective: To investigate subannular tube (SAT) placement as an alternative treatment of chronic middle ear disease in children with cleft palate.

Design: Retrospective cohort study.

Participants: All children with cleft palate with intractable otitis media with effusion and/or with tympanic membrane retraction, operated for insertion of 1 or more sets of transtympanic tubes followed by SAT in a tertiary center.

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Objective: Analyse and compare the characteristics of patients with epistaxis admitted to the otolaryngology emergency department with those provided by a control group. Establish a model to identify epistaxis predictive factors.

Methods: Prospective analysis of 283 consecutive adults, admitted to the otolaryngology emergency department of a tertiary referral centre between 25 January and 25 February 2014.

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Objectives: The aim of this study was to analyse the epidemiology, clinical presentation, diagnostic clues, as biochemical parameters and imaging studies, of children with acute neck infections (ANI) to identify possible independent prognostic factors leading to complications and prolonged hospitalization.

Methods: Records of children admitted to a tertiary university hospital from January 2008 to December 2014 with a diagnosis of ANIs were reviewed retrospectively. Diseases were categorized according to the site of infection and patients were divided into two groups: children (aged<10 years) and adolescents (aged 10-18 years).

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Objective: The purpose of this work was to characterize the Met34Thr variant in a group of patients with nonsyndromic hearing loss, in order to establish a genotype-phenotype correlation.

Methods: 13 cases from 4 unrelated Portuguese families were selected, in which one or more hearing-impaired members had Met34Thr variant.

Results: Met34Thr variant was identified in 11/13 cases.

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Introduction: Rhinosinusitis constitutes an important health problem, with significant interference in personal, professional, and social functioning. This study presents the validation process of the Portuguese version of the RhinoQOL, to be used as a routine procedure in the assessment of patients with chronic rhinosinusitis.

Objective: To demonstrate that the Portuguese version of the RhinoQOL is as valid as the English version to measure symptoms and health-related quality of life in chronic rhinosinusitis.

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Article Synopsis
  • The study aimed to estimate the prevalence of the 35delG and Met34Thr gene variants in a sample of Portuguese children and compare these frequencies to those found in nonsyndromic hearing-loss patients.
  • The research involved screening 502 randomly selected children and 89 patients with hearing loss for these gene variants.
  • Results indicated that the 35delG variant is potentially associated with deafness, while the Met34Thr variant does not show a direct association but may still contribute to hearing loss in a different way.
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