Publications by authors named "Mark Jorissen"

Article Synopsis
  • The study aimed to explore the relationship between clinical features and pathogenic gene variants in patients with Primary Ciliary Dyskinesia (PCD).
  • Conducted at the University Hospitals Leuven, it included 74 patients with genetically confirmed PCD, focusing on common genes like DNAH11 and DNAH5, and analyzing their genotype, ultrastructural data, and clinical characteristics.
  • Findings indicated that certain clinical features differed significantly between patients with DNAH11 and DNAH5 variants, but other factors like lung function and microbiology did not show significant differences, suggesting some correlations exist in clinical characteristics based on genotypes.
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We present a protocol for the rapid postmortem bedside procurement of selected tissue samples using an endoscopic endonasal surgical technique that we adapted from skull base surgery. We describe steps for the postmortem collection of blood, cerebrospinal fluid, a nasopharyngeal swab, and tissue samples; the clean-up procedure; and the initial processing and storage of the samples. This protocol was validated with tissue samples procured postmortem from COVID-19 patients and can be applied in another emerging infectious disease.

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Background: The skin prick test (SPT) is the gold standard for identifying allergic sensitization in individuals suspected of having an inhalant allergy. Recently, it was demonstrated that SPT using a novel skin prick automated test (SPAT) device showed increased reproducibility and tolerability compared to the conventional SPT, among other benefits.

Objective: This study aimed to evaluate prick location bias using the novel SPAT device.

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Background: Recent advances in endoscopic endonasal transsphenoidal approaches (EETA) for skull base lesions have resulted in a significant increase in extent and complexity of skull base defects, demanding more elaborate and novel reconstruction techniques to prevent cerebrospinal fluid (CSF) leakage and to improve healing. Currently, commercially available fibrin sealants are often used to reinforce the skull base reconstruction. However, problems have been reported regarding hypersensitivity reactions, efficacy, and costs.

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Objectives: Chronic rhinosinusitis (CRS) is prevalent in people with cystic fibrosis (PwCF) and is often refractory to treatments. Uncontrolled CRS might negatively impact the lower airways and the quality of life. The aim of this study is to evaluate the burden of cystic fibrosis (CF)-related CRS in the era of CF transmembrane conductance regulator (CFTR) modulators.

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Can SARS-CoV-2 hitchhike on the olfactory projection and take a direct and short route from the nose into the brain? We reasoned that the neurotropic or neuroinvasive capacity of the virus, if it exists, should be most easily detectable in individuals who died in an acute phase of the infection. Here, we applied a postmortem bedside surgical procedure for the rapid procurement of tissue, blood, and cerebrospinal fluid samples from deceased COVID-19 patients infected with the Delta, Omicron BA.1, or Omicron BA.

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Article Synopsis
  • Real-world evidence (RWE) is crucial for understanding chronic rhinosinusitis (CRS) but is currently limited in Europe, especially regarding treatment effectiveness.
  • The CHRINOSOR initiative seeks to gather RWE through a mobile health platform, focusing on patient profiles, disease history, and outcomes from a network of ENT clinics across 10 European countries.
  • With initial participation from up to 300 patients, this project aims to enhance knowledge about CRS and its treatments, ultimately informing future healthcare strategies.
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Anosmia, the loss of smell, is a common and often the sole symptom of COVID-19. The onset of the sequence of pathobiological events leading to olfactory dysfunction remains obscure. Here, we have developed a postmortem bedside surgical procedure to harvest endoscopically samples of respiratory and olfactory mucosae and whole olfactory bulbs.

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Article Synopsis
  • The endoscopic endonasal transsphenoidal approach (EETA) is an effective surgical technique for removing various benign tumors, primarily pituitary adenomas, offering better visualization and working angles than traditional methods.
  • A study of 369 patients over a decade revealed that the most common symptoms before surgery included headaches and vision loss, with a median follow-up of 55 months showing some cases of tumor recurrence and complications such as CSF leaks.
  • Over time, EETA demonstrated improved outcomes, including shorter hospital stays and a steady increase in cases performed, with a low rate of perioperative mortality and complication rates akin to, or better than, older microsurgical approaches.
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Background: Chronic rhinosinusitis with nasal polyps (CRSwNP) often requires surgery, but recurrence even after surgery is common. Recurrence rates largely vary in literature and asthma seems to be a comorbid factor.

Objective: In this study, we aim to estimate disease recurrence during a long-term follow-up, together with the investigation of possible predicting and/or influencing parameters.

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Intraorbital and intracranial complications of acute rhinosinusitis (ARS) are uncommon, but potentially life threatening. Signs of progression of ARS should be recognized early to allow timely surgical treatment in order to avoid irreversible lesions such as vision loss and neurological deficits. In this case series, we provide an overview of 6 representative cases who presented at our tertiary center (2017-2018).

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This review of sinonasal adenocarcinoma, both intestinal and non-intestinal type, aims at providing a comprehensive overview of etiological factors, diagnostic workup, histological subtypes, advances in molecular characterization and the genetic basis, current optimal treatment strategies, resulting oncological outcome, and prognostic factors modifying the final treatment results. The current treatment of choice remains surgical resection with a curative intent, using the least invasive approach that allows for removal of the entire tumor with negative margins, supplemented with postoperative high-quality intensity-modulated radiotherapy in the majority of patients. To date, chemotherapy remains reserved for the palliative setting.

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Background: Chronic rhinosinusitis (CRS) is a chronic inflammatory disease associated with a substantial personal and socioeconomic burden. Monitoring of patient-reported outcomes by mobile technology offers the possibility to better understand real-life burden of CRS.

Methods: This study reports on the cross-sectional evaluation of data of 626 users of mySinusitisCoach (mSC), a mobile application for CRS patients.

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Background: Olfactory receptor (OR) genes are the largest multi-gene family in the mammalian genome, with 874 in human and 1483 loci in mouse (including pseudogenes). The expansion of the OR gene repertoire has occurred through numerous duplication events followed by diversification, resulting in a large number of highly similar paralogous genes. These characteristics have made the annotation of the complete OR gene repertoire a complex task.

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It is generally believed that the microbiome plays a role in the pathophysiology of chronic rhinosinusitis (CRS), though its exact contribution to disease development and severity remains unclear. Here, samples were collected from the anterior nares, nasopharynx, and maxillary and ethmoid sinuses of 190 CRS patients and from the anterior nares and nasopharynx of 100 controls. Microbial communities were analyzed by Illumina sequencing of the V4 region of 16S rRNA.

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The mammalian olfactory system displays species-specific adaptations to different ecological niches. To investigate the evolutionary dynamics of olfactory sensory neuron (OSN) subtypes across mammalian evolution, we applied RNA sequencing of whole olfactory mucosa samples from mouse, rat, dog, marmoset, macaque, and human. We find that OSN subtypes, representative of all known mouse chemosensory receptor gene families, are present in all analyzed species.

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A 68-year-old man presented with rapid progressive visual loss caused by a progressive local invasive sinonasal intestinal-type adenocarcinoma (ITAC) with intracranial invasion. The local relapse of ITAC in the ethmoid sinus was previously treated with palliative radiotherapy and carboplatin-paclitaxel, without response, hence disease progression was seen. Ophthalmological examination revealed irreversible blindness of the left eye and a dramatic progressive visual loss of the right eye.

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Nonsyndromic orofacial clefting is one of the most frequently occurring congenital conditions. The aim of the study was to investigate the prevalence and nature of reduced olfactory function in patients with nonsyndromic cleft lip and/or cleft palate (NSCL/P) and their unaffected first-degree relatives. Olfactory function was tested using the Sniffin' Sticks identification test in patients with NSCL/P, in their unaffected relatives, and in control subjects.

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Objectives: We report the use of reconstituted 3D human airway epithelium cells (HuAECs) of bronchial origin in an air-liquid interface to study respiratory syncytial virus (RSV) infection and to assess the efficacy of RSV inhibitors in (pre-)clinical development.

Methods: HuAECs were infected with RSV-A Long strain (0.01 CCID50/cell, where CCID50 represents 50% cell culture infectious dose in HEp2 cells) on the apical compartment of the culture.

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The diagnosis of primary ciliary dyskinesia is often confirmed with standard, albeit complex and expensive, tests. In many cases, however, the diagnosis remains difficult despite the array of sophisticated diagnostic tests. There is no "gold standard" reference test.

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Objectives: This study investigated the prevalence of human papillomavirus (HPV)-related oropharyngeal squamous cell carcinoma (OPSCC) and compared patient profiles and outcomes between HPV-positive and HPV-negative groups.

Study Design: This retrospective study included all patients treated for OPSCC in the University Hospitals of Leuven between 2004 and 2012. Paraffin-embedded tumor tissue was available for all patients.

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Introduction: Nebulized drugs are used in the treatment of cystic fibrosis (CF) lung disease, asthma, and COPD, and increasingly also in other chronic lung diseases. Their use in CF is reasonably evidence based, but this is not so for use in other orphan diseases. Potential side effects often have not been studied.

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Pituitary adenomas cause significant endocrine and mass-related morbidity. Little is known about the mechanisms that underlie pituitary tumor pathogenesis. In the present study, we searched for a side population (SP) in pituitary tumors representing cells with high efflux capacity and potentially enriched for tumor stem cells (TSCs).

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