Low-cost otolaryngology simulation models for early-stage trainees: a scoping review.

BACKGROUND: Medical simulation is essential for surgical training yet is often too expensive and inaccessible in low- and middle-income countries (LMICs). Furthermore, in otolaryngology-head and neck surgery (OHNS), while simulation training is often focused on senior residents and specialists, there is a critical need to target general practitioners who carry a significant load of OHNS care in countries with limited OHNS providers. This scoping review aims to describe affordable, effective OHNS simulation models for early-stage trainees and non-OHNS specialists in resource-limited settings and discuss gaps in the literature. METHODS: This scoping review followed the five stages of Arksey and O'Malley's Scoping Review Methodology. Seven databases were used to search for articles. Included articles discussed physical models of the ear, nose, or throat described as "low-cost," "cost-effective," or defined as <$150 if explicitly stated; related to the management of common and emergent OHNS conditions; and geared towards undergraduate students, medical, dental, or nursing students, and/or early-level residents. RESULTS: Of the 1706 studies screened, 17 met inclusion criteria. Most studies were conducted in HICs. Most models were low-fidelity (less anatomically realistic) models. The most common simulated skills were peritonsillar abscess aspiration and cricothyrotomy. Information on cost was limited, and locally sourced materials were infrequently mentioned. Simulations were evaluated using questionnaires and direct observation. CONCLUSION: Low-cost simulation models can be beneficial for early medical trainees and students in LMICs, addressing resource constraints and improving skill acquisition. However, there is a notable lack of contextually relevant, locally developed, and cost-effective models. This study summarizes existing low-cost OHNS simulation models for early-stage trainees and highlights the need for additional locally sourced models. Further research is needed to assess the effectiveness and sustainability of these models.

Genetic and congenital disorders in pre-Hispanic Moche pottery.

The Moche were a pre-Hispanic, pre-Incan people who inhabited northwestern Peru from 50 to 850 AD and left behind a large body of ceramic artwork. We present 26 pieces from 5 museums, which seem to show individuals with malformations, minor anomalies, and possible genetic syndromes. Possible diagnoses include cleft lip and palate, ocular anomalies such as hypertelorism and orbital dystopia, oligo- and polydactyly, conjoined twinning, clubfoot, Down syndrome, Crouzon syndrome, and Seckel syndrome. These ceramic portraits suggest that these people with received a certain respect or even elevated status within their society.

Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia.

Colombia has a high prevalence of mucopolysaccharidosis (MPS) type IVA. Nevertheless, data regarding the mutation spectrum for MPS IVA in this population have not been completely characterized. Forty-seven families and 53 patients from seven different Colombian regions were tested for MPS IVA mutations. We compared the sequences with the N-acetylgalactosamine-6-sulfatase (GALNS) reference sequence NM_000512.4, and gene variants were reported. Bioinformatics analysis was performed using SWISS-MODEL. The mutant proteins were generated by homology from the wild-type GALNS 4FDJ template obtained from the PDB database, and visualization was performed using Swiss-PDBViewer and UCSF Chimera. The predictive analysis was run using different bioinformatic tools, and the deleterious annotation of genetic variants was performed using a neural network. We found that 79% and 21% of the cohort was homozygous and compound heterozygous, respectively. The most frequent mutation observed was p.Gly301Cys (78.3% of alleles), followed by p.Arg386Cys (10.4% of alleles). A novel mutation (p.Phe72Ile) was described and classified in silico as a pathogenic variant. This study reveals the mutation spectrum of MPS IVA in Colombia. The high prevalence of the p.Gly301Cys mutation suggests a founder effect of this variant in the Colombian population that causes diseases in the Andean region (via migration). These data can facilitate genetic counseling, prenatal diagnosis, and the design of therapeutic interventions.

Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report.

Rett syndrome (RS) is a neurodevelopmental infantile disease characterized by an early normal psychomotor development followed by a regression in the acquisition of normal developmental stages. In the majority of cases, it leads to a sporadic mutation in the MECP2 gene, which is located on the X chromosome. However, this syndrome has also been associated with microdeletions, gene translocations, and other gene mutations. A 12-year-old female Colombian patient was presented with refractory epilepsy and regression in skill acquisition (especially language with motor and verbal stereotypies, hyperactivity, and autistic spectrum disorder criteria). The patient was born to non-consanguineous parents and had an early normal development until the age of 36 months. Comparative genomic hybridization array-CGH (750K) was performed and Xp22.31 duplication was detected (6866889-8115153) with a size of 1.248 Mb associated with developmental delay, epilepsy, and autistic traits. Given the clinical criteria of RS, MECP2 sequencing was performed which showed a de novo pathogenic variant c.338C>G (p.Pro113Arg). The features of RS include intellectual disability, developmental delay, and autism. These features are associated with copy number variations (CNVs) on the X chromosome (Xp22.31 microduplication). Here we present the first reported case of simultaneous CNV and MECP2 pathogenic mutation in a patient with RS. We propose that both DNA alterations might have a synergistic effect and could lead to variable expressivity of the phenotype.

Syndromic Intellectual Disability Caused by a Novel Truncating Variant in AHDC1: A Case Report.

Mutations in the AHDC1 gene are associated with the Xia-Gibbs syndrome (XGS), a sporadic genetic disorder characterised by developmental delay, intellectual disability, hypotonia, obstructive sleep apnoea, dysmorphic facial features, and cerebral malformations with plagiocephaly. Here we report the case of a 13-year-old Colombian female patient with a history of developmental delay, speech delay, sleep disturbances, and dysmorphic craniofacial features. The whole exome sequencing (WES) test revealed a novel de novo heterozygous frameshift mutation in AHDC1. The present case report describes the second case of mutations in AHDC1 in a Latin American patient. A literature review showed that the clinical features were similar in all reported patients. The WES test enabled the identification of the causality of this disorder characterised by high clinical and genetic heterogeneity.

Widening of posterior glottis through rotation of the arytenoid on its axis: Report of nine cases.

INTRODUCTION: Bilateral vocal folds' immobility is a challenge in laryngology. Multiple procedures have been proposed to improve breathing by statically enlarging the glottal airway, what also results in loss of voice and aspiration. We proposed a technique to enlarge the posterior glottis by rotating the arytenoids on its axis, imitating the function of the posterior cricoarytenoid muscle, with the objective of evaluating the results regarding decannulation, voice quality, and bronchoaspiration. METHODS: This study is a clinical case series of patients with bilateral vocal fold paralysis who underwent an arytenoid rotation surgery at a single tertiary university care institution between 2011 and 2017. Data were prospectively collected and was complemented with information from medical charts. Patients were assessed for decannulation, dyspnea, posterior glottic opening, quality of voice, and swallowing disorders. RESULTS: Nine patients were included in the study. Out of three patients who required tracheostomy, two were successfully decannulated. Six patients reported a significant improvement in their dyspnea, while four patients reported a worsening of their voice. The stroboscopy evidenced a posterior glottic opening of at least 7 mm in six patients. Eight patients had no aspiratory symptoms, and the acoustic analysis showed that only one patient has a normal voice. CONCLUSION: The arytenoid rotation on its axis by imitating the posterior cricoarytenoid muscle preserves the physiological functions of the larynx, which allows sufficient opening of the posterior glottis for breathing, and could alter in a lesser extent the anterior glottis to maintain a good quality of voice and swallowing.

Exploring the Impact of Amyotrophic Lateral Sclerosis on Otolaryngological Functions.

IMPORTANCE: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterized by progressive degeneration of upper and lower motor neurons at the spinal or bulbar level. OBJECTIVE: We aim to describe the most frequent otolaryngology (ORL) complaints and voice disturbances in patients with bulbar onset ALS. DESIGN: Retrospective cohort study. SETTING: Single-center study with combined ORL and ALS clinic evaluation. PARTICIPANTS: Patients with a confirmed diagnosis of ALS following an ORL visit and who underwent comprehensive voice assessments between January 2021 and January 2023. EXPOSURE: Objective voice assessments. MAIN OUTCOMES AND MEASURES: Glottal functional index (GFI), voice handicap index (VHI), reflux system index (RSI), and voice quality characteristics such as shimmer, jitter, maximum phonation time (MPT), and other essential parameters were assessed. RESULTS: One hundred and thirty-three patients (age 62.17 ± 10.79, 54.48% female) were included. Three patients were referred from the ORL department to the ALS clinic. The most frequent symptoms were; dysphagia, dysarthria, facial weakness, pseudobulbar affect, and sialorrhea. The mean of forced vital capacity was 59.85%, EAT-10 15.91 ± 11.66, RSI 25.84 ± 9.03, GFI 14.12 ± 5.58, VHI-10 42.81 ± 34.94, MPT 15.22 s ± 8.06. Many patients reported voice impairments mainly related to spastic dysarthria and the combination of lower and upper motor neuron dysarthria, hypernasality, reduced verbal expression, and articulatory accuracy. Shimmer was increased to 8.46% ± 7.20, and jitter to 2.26% ± 1.39. CONCLUSIONS AND RELEVANCE: Based on our cohort, this population with bulbar onset ALS has a higher frequency of voice disturbance characterized by hypernasality, spastic dysarthria, and reduced verbal expression. LEVEL OF EVIDENCE: Level 3.

Predictors for Development of Chronic Rhinosinusitis in Transplant Recipients.

OBJECTIVES: Studies suggest that transplant patients are at a higher risk of developing chronic rhinosinusitis (CRS). However, there is a dearth of studies describing the factors that may be linked to the development of CRS in this population. Our objective is to identify the risk factors associated with the development of CRS in transplant recipients. STUDY DESIGN: Retrospective cohort. SETTING: Tertiary care center. METHODS: This cohort included 3347 transplant recipients seen between 2017 and 2022. Of these, 2128 patients met the inclusion criteria and were grouped according to whether they were diagnosed with CRS during the post-transplant period. The analysis included both univariate and multivariate analysis to ascertain the odds ratio (OR) and predictive factors. RESULTS: Of the 2128 patients, 649/2128 (30.4%) had CRS. CRS patients had an increased prevalence of previous endoscopic sinus surgery, allergic rhinitis, and recurrent acute rhinosinusitis in the pre-transplant period compared to the non-CRS group. According to the multivariate analysis, patients with primary immunodeficiency and additional transplant were 1.9 and 3.1 times more likely to develop CRS during the posttransplant period (95% CI: 1.3-2.6, p < .0001), (95% CI: 1.3 -7.3, p = .01), respectively. Sirolimus use was also associated with the development of CRS (OR = 1.4, 95% CI: 1.1-1.9, p = .01). CONCLUSION: This study is the largest cohort aimed at determining the predictive factors associated with the development of CRS. Patients with pretransplant rhinologic conditions, hematologic deficiencies, and the utilization of specific immunosuppressants were found to have a higher likelihood of developing CRS following transplantation.

The impact of cadaveric donor transplant on the development of chronic rhinosinusitis and recalcitrant disease.

KEY POINTS: The study found a higher incidence of chronic rhinosinusitis (CRS) and recalcitrant CRS in cadaveric organ transplant recipients compared to those receiving living donor transplants. Recipients of cadaveric transplants were 1.32 times more likely to develop CRS and 1.68 times more likely to develop medically recalcitrant CRS. Living kidney transplants significantly reduced the risk of developing CRS (OR = 0.12) and recalcitrant CRS (OR = 0.11), highlighting a potentially protective effect against these conditions. In contrast, cadaveric liver transplants were associated with an increased risk of CRS and medically recalcitrant CRS. Kaplan-Meier survival analysis indicated a significant difference in time to CRS onset between cadaveric and living donor transplants. Median time to CRS onset was longer for living donor recipients (21.1 months) compared to cadaveric recipients (15.6 months). This study underscores the need for transplant teams and otolaryngologist to consider donor type during transplant follow-up due to differing risks of CRS development.

Laryngeal chondromas: Current knowledge and future directions.

Objective: Cartilaginous tumors of the larynx are rare, representing less than 1% of all laryngeal tumors. Chondromas are benign mesenchymal tumors characterized by a slow-paced growth, primarily originated in the cricoid cartilage, followed by the thyroid, arytenoid, and epiglottic cartilages. This scoping review aims to understand the extent of evidence on the epidemiology, clinical characteristics, morbidity, and recurrence of the laryngeal chondroma (LC). Data sources: MEDLINE (Ovid), Embase (Elsevier), Web of Science (Clarivate), Cochrane Central Register of Controlled Trials and Systematic Reviews, Lilacs, Scopus, and Google Scholar databases. Review methods: The scoping review was conducted from 1816 to 2023, for observational studies describing LC. Titles and abstracts were screened for relevance, followed by an evaluation of the full text for eligibility. The data were collected from the qualifying articles, and a narrative summary of the outcomes was prepared. Results: One hundred and nineteen studies met the inclusion criteria. Ninety-four case reports, 22 case series, and 3 cohorts. Two hundred and four participants with a diagnosis of LC were described. Male:female ratio was 2.8:1. The most common localization was the cricoid (113; 47.08%), followed by the thyroid (45; 18.75%), and the arytenoid cartilage (27; 11.25%). Dyspnea (78.85%) and hoarseness (74.28%) were the most reported symptoms. The recurrence rate was 11.25%, and complications were uncommon following the resection. Conclusion: This scoping review found a low-frequency rate over all the cartilaginous laryngeal tumors. Most patients were treated with resection, with a low rate of malignancy conversion. This population has low attributable mortality, morbidity, and recurrence according to the current literature.

The State of Craniomaxillofacial Trauma Care in Low- and Middle-Income Countries: A Scoping Review.

Objective: This scoping review aims to contribute a descriptive analysis of the craniomaxillofacial trauma (CMF trauma) literature in low- and middle-income countries (LMICs) to identify knowledge gaps, direct future research, and inform policy. Data Sources: PubMed/MEDLINE, Cochrane Review, EMBASE, ClinicalTrials.gov, and Google Scholar from January 1, 2012 to December 10, 2023. Review Methods: The Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews (PRISMA-ScR) guided reporting, and the PRISMA flowchart documented database searches. Specific, predefined search terms and inclusion criteria were used for screening, and the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) checklist was used for quality assessment. The search yielded 54 articles, with 13 meeting the inclusion criteria. Key findings were summarized and divided into 7 categories. Results: There were 10,420 patients (7739 [74.3%] male, 2681 [25.7%] female) with a male-to-female ratio of 2.9:1. The mean peak age of incidence of CMF trauma was 30.8 years, ranging from 20 to 40 years. Road traffic accidents were the leading cause (60.4%), followed by assault (27.2%) and falls (12.2%). The most common injuries were soft tissue injury (31.7%), isolated mandibular fracture (22.8%), and isolated middle-third of mandible fracture (18.1%). The most common treatments were closed reduction and immobilization (29.5%), conservative management (27.6%), and open reduction and internal fixation (19.6%). Most patients (77.8%) experienced a treatment delay due to a lack of fixation materials (54.8%) or surgeon unavailability (35.7%). Conclusion: CMF trauma remains a significant cause of global morbidity, yet there remains a lack of high-quality, CMF trauma-specific data in LMICs. Country-specific investigations are required to enhance knowledge and inform novel interventions. Implementing policy change must be community-specific and account for unique cultural barriers, attitudes, and behaviors to maximize patient care outcomes.

Submucosal Epstein-Barr Virus Positive Polymorphic B-cell Lymphoproliferative Disorder of the Larynx: A Case Report.

Epstein-Barr virus (EBV) belongs to the group of human herpes virus and can cause clinical and subclinical infections. Although EBV-related disease presentations are similar, they can lead to oncogenic transformation with various clinical manifestations. A thorough workup with morphology, immunohistochemistry, and molecular studies is crucial for the diagnosis of EBV-positive polymorphic B-cell lymphoproliferative disorder, not otherwise specified (NOS), which is a new entity introduced by International Consensus Classification in 2022. We describe an interesting presentation of EBV-positive polymorphic B-cell lymphoproliferative disorder with laryngeal involvement to bring awareness to this entity and we would like to address the need for more accessible treatment options.

Laryngological Complaint Prevalence in Hypermobile Ehlers-Danlos or Hypermobility Spectrum Disorders.

OBJECTIVE: The aim was to study laryngological complaints in patients with hypermobile Ehlers-Danlos syndrome (hEDS) or hypermobility spectrum disorders (HSD). METHODS: A total of 363 patients met inclusion for the study by completing questions related to voice, upper airway, and swallowing between July 7, 2020 and July 13, 2022. Demographic data, voice-related questions, and hypermobility diagnosis were analyzed retrospectively. From those, 289 patients were diagnosed with hEDS or HSD with 74 that did not meet the diagnostic criteria for either diagnosis serving as controls. RESULTS: There were no statistically significant differences between patients with hEDS and HSD regarding Voice Handicap Index (VHI-10) scores, voice, upper airway, or swallow complaints. However, more hEDS/HSD patients answered positively to the laryngeal dysfunction question versus controls (p = 0.031). 22.5% of hEDS/HSD patients (n = 65) reported hoarseness, of which 52.3% reported hoarseness >2 days/month. 33.9% (n = 98) with hEDS/HSD reported symptoms of dysphagia, and 27.0% (n = 78) reported laryngeal dysfunction symptoms. Controls demonstrated 20.3% prevalence of hoarseness, of which 46.7% reported hoarseness >2 days/month. 24.3% of controls had dysphagia and 14.9% laryngeal dysfunction symptoms. Of the 363 patients, VHI-10 scores >11 were more likely in patients reporting >2 days of hoarseness/month (p = 0.001) versus those with <2 days of hoarseness/month. There was an increased prevalence of voice, upper airway, and dysphagia symptoms in hEDS/HSD patients compared with previously reported prevalence data in the general population. CONCLUSION: A significant proportion of patients diagnosed with hypermobility due to hEDS or HSD were found to have voice, upper airway, and dysphagia symptoms. These rates are higher than those previously reported in the general population. LEVEL OF EVIDENCE: 3 Laryngoscope, 134:773-778, 2024.

The Global Experience of Laryngeal Transplantation: Series of Eleven Patients in Three Continents.

BACKGROUND: The loss of laryngeal function affects breathing, swallowing, and voice, thus severely compromises quality of life. Laryngeal transplantation has long been suggested as a solution for selected highly affected patients with complete laryngeal function loss. OBJECTIVE: To obtain insights regarding the advantages, weaknesses, and limitations of this procedure and facilitate future advances, we collected uniform data from all known laryngeal transplants reported internationally. METHODOLOGY: A case series. Patients were enrolled retrospectively by each institutional hospital or clinic. Eleven patients with complete loss of laryngeal function undergoing total laryngeal transplantation between 1998 and 2018 were recruited. RESULTS: After a minimum of 24 months follow-up, three patients had died (27%), and there were two graft explants in survivors, one total and one partial, due to chronic rejection. In the remaining cases, voice was functional in 62.5% and 50% achieved decannulation. Swallowing was initially restricted, but only one patient was gastrostomy-dependent by 6 months and all had normal or near-normal swallowing by the end of year two after transplantation. Median follow-up was 73 months. Functional (voice, swallowing, airway) recovery peaked between 12 and 24 months. CONCLUSIONS: Laryngeal transplantation is a complex procedure with significant morbidity. Significant improvements in quality of life are possible for highly selected individuals with end-stage laryngeal disorders, including laryngeal neoplasia, but further technical and pharmacological developments are required if the technique is to be more widely applicable. An international registry should be created to provide better quality pooled data for analysis of outcomes of any future laryngeal transplants. LEVEL OF EVIDENCE: IV Laryngoscope, 2024.

Quantitative Analysis of Unilateral and Bilateral Vocal Fold Immobility.

OBJECTIVE: To analyze the correlation between clinical and video laryngoscopy findings for 89 patients with bilateral vocal fold immobility (BVFI), unilateral vocal fold immobility (UVFI), and healthy controls by quantitative analysis of normalized laryngeal outlet (NLO), bowing index (BI), and supraglottic compression (SGC). METHODS: Laryngoscope pictures were taken by two reviewers, and all pictures were standardized by scaling and calibrating to the same width and height in Image J. Three reviewers used quantitative measures to calculate BI, NLO, and SGC in Image J. We assessed reliability for each measurement by two-factor analysis of variance (ANOVA) without replication to calculate the interclass correlation coefficient. Analysis was broken down for each measurement in each group of interest by using a one-way test. The total glottic area was obtained by calculating the normalized glottal gap area from each image of maximum glottal closure during phonation. RESULTS: Overall reliability of all the measurements was 0.69 (IQ 0.58-0.83). Mean NLO from UVFI, BVFI, and control groups differed significantly. There was no significant difference between control and BVFI. The total glottic area did not consistently predict normalized laryngeal outlet values. Mean normalized laryngeal outlet values of UVFI and BVFI were significantly smaller in the BVFI groups compared with controls and UVFI. BI values consistently predicted total glottic area in the BVFI group. Static SGC measurement did not predict a difference between groups. CONCLUSION: This is a reliable novel technique, which can be utilized in clinical settings. These measurements have clinical relevance for managing voice disorders. NLO is the most accurate measurement correlating with glottal incompetence. BI findings are sufficiently specific to identify between UVFI and BVFI.

Risk Factors for Recalcitrant Chronic Rhinosinusitis in Non-Solid and Solid Transplant Recipients.

OBJECTIVES: Transplant patients are high risk for surgery due to their immunocompromised state. There is a paucity of evidence concerning the differences in incidence of chronic rhinosinusitis (CRS) in solid versus non-solid organ transplant. Our aim is to analyze the difference in incidence of CRS requiring endoscopic sinus surgery (ESS) between non-solid and solid transplant populations and determine if certain risk factors are associated with increased incidence of recalcitrant CRS in non-solid versus solid transplants. STUDY DESIGN: Retrospective cohort. SETTING: Multisite tertiary academic center. METHODS: This is a retrospective chart review of 1303 transplant recipients who were seen in our rhinologic clinic for CRS between 2017 and 2022. A total of 224 patients underwent ESS and were further analyzed for risk factors associated with recalcitrant disease requiring sinus surgery. Subgroup analysis based on solid and non-solid organ transplant was performed. RESULTS: Of the 224 patients in the study, 171/224 (76.3%) had solid transplants while 53/224 (23.6%) had non-solid transplants. 17.19% of all transplant recipients required ESS. The incidence of ESS in non-solid transplants was 28.2% versus 57% in solid transplant. The risk of recalcitrant CRS in solid transplant recipients was almost 1.78 times greater than those with non-solid organ transplant (95% CI, 1.27-2.54, p = 0.0005). Individual factors such as certain immunotherapy drugs, pancytopenia, and rejection appear to correlate with the risk of ESS in both non-solid and solid organ transplant. CONCLUSION: Risk of ESS was greater in the solid transplant recipients compared to those who received non-solid organ transplant.

Functional Outcomes Following Delayed Laryngeal Reinnervation Of Patients with Vagal Paralysis After Paraganglioma and Schwannoma Surgery.

PURPOSE: We present a prospective case series that aimed to report the functional (voice and swallowing) outcomes of delayed laryngeal reinnervation following vagal interruption by resection of vagal paraganglioma and schwannoma. MATERIALS AND METHODS: A dedicated, anonymized database was established in 2012 with a minimum eighteen-month follow up set for this report. Internationally validated self- and observer-reported measures were recorded preoperatively and at six, 12 and, 18 months together with demographics, diagnoses, and operative details. RESULTS: A total of eight patients with a median age of 46 (37-54) underwent excision of vagal paraganglioma (five) and schwannoma (three) with few mild complications. Three underwent selective and five non selective reinnervation. Seven out of eight patients underwent synchronous injection medialization. The voice handicap index (VHI-30) improved from a baseline median 83 (range 52-102) to 7.5 (5-58) at 18 months; maximum phonation time improved from median 8 (range 5-15) to 10.5 (8.5-11); voice grade ("G" in grade, roughness, breathiness, asthenia, and strain [GRBAS] scoring) improved from median three (severe impairment, range 0-3) to one (mild impairment, 0-2); Eating Assessment Tool (EAT-10) score improved from median 12 (range 3.5-27) preoperatively to one (0-16); and reflux symptom index (RSI) improved from median 25 (range 17-36) to 7 (0-36). One patient exhibited no discernible reinnervation, while the remainder exhibited good cord bulk and tone, though without purposive abduction. CONCLUSION: Delayed laryngeal reinnervation for high vagal paralysis is a safe technique associated with good voice and swallowing outcomes by 12-18 months. Potential confounders in this small series and the absence of a control arm both limit conclusions, but this study suggests that further prospective, controlled studies, and/or case registration are merited.

Risk Factors for Recalcitrant Chronic Rhinosinusitis in Organ Transplant Recipients.

OBJECTIVE: Studies suggest that transplant patients are at risk for chronic rhinosinusitis (CRS). However, there is limited information in the literature regarding frequency and reasons for failure of adequate medical therapy. We aim to determine the risk factors associated with the development of medically recalcitrant CRS requiring endoscopic sinus surgery (ESS). STUDY DESIGN: Retrospective cohort. SETTING: Mayo Clinic. METHODS: This is a retrospective chart review of 925 transplant recipients seen at Mayo Clinic between 2017 and 2022. INCLUSION CRITERIA: (1) a rhinologic consultation after transplant and (2) clinical diagnosis of CRS. A total of 549 patients met the inclusion criteria and were divided based on the need for ESS versus successful treatment with medical therapy. Univariate and logistic regression analyses were performed to identify risk factors and predictive variables related to failure of medical therapy. RESULTS: Of the 549 patients, 201/549 (37%) had medically recalcitrant disease requiring ESS, while 348/549 (63%) were successfully treated with medical therapy Based on logistic regression, patients with recurrent acute rhinosinusitis in the pretransplant period were 8.68 more likely to have a recalcitrant disease (95% confidence interval, 3.72-20.28, p < 0.0001). Some of the largest determinants of medical therapy failure in the posttransplant period were CRS with nasal polyps, odontogenic CRS, and noninvasive fungal sinusitis. The presence of neutropenia, aplastic anemia, and living transplant were also associated with medically recalcitrant CRS requiring ESS. CONCLUSION: Our predictive model identifies with high accuracy the patients who may be at risk of developing recalcitrant CRS in the organ transplant population.

Relationship Between Alcohol Intolerance and Aspirin-Exacerbated Respiratory Disease (AERD): Systematic Review.

OBJECTIVE: Previous studies have suggested that patients with aspirin-exacerbated respiratory disease (AERD) have a high likelihood of alcohol intolerance. The purpose of this systematic review is to identify if there is sufficient evidence to confirm this correlation and the impact of medical therapy on subsequent alcohol tolerance. DATA SOURCES: PubMed, EMBASE, SCOPUS, EBSCO, Google Scholar, Cochrane Library, and Grey literature. We also performed snowballing on the identified observational studies (OS) for additional data. REVIEW METHODS: A systematic review was conducted from 1968 to 2022 to identify those studies describing AERD symptomatology triggered by alcohol intake. The primary outcome was to analyze the current literature for the association between alcohol intolerance and AERD symptoms. The secondary outcome looked for improvement in alcohol tolerance after aspirin desensitization or biological therapy. RESULTS: A total of 775 studies were identified and 40 abstracts were evaluated. From these, 5 studies met the inclusion criteria. Of the 5 manuscripts, there was 1 case-control, 2 cohort, and 2 cross-sectional studies. A total of 522 participants with AERD and a history of alcohol consumption were included, with 52.8% reporting at least 1 sinopulmonary exacerbation after alcohol intake. One of 3 studies noted improvement in alcohol tolerance after medical therapy with aspirin desensitization. CONCLUSION: The current literature suggests that patients with AERD have a high risk of alcohol intolerance. Additionally, aspirin desensitization may improve alcohol tolerance in this patient population.

The Unique Spectrum of MUTYH Germline Mutations in Colombian Patients with Extracolonic Carcinomas.

Background: Protein MUTYH, encoded by the gene MUTYH, is an important mismatch repair enzyme in the base-excision repair pathway of DNA repair. When genetically altered, different neoplastic conditions can arise. One of the widely known syndromes associated with MUTYH mutations is MUTYH-associated polyposis, a form of familial colorectal cancer syndrome. MUTYH may also be a driver in other familial cancer syndromes, as well as breast cancer and spontaneous cancer cases. However, some controversies about the role of these alterations in oncogenesis remain, especially when affected in a heterozygous way. Most available data on MUTYH mutations are on Caucasian patients. Material and Methods: We analyzed a small cohort of non-Caucasian, Colombian cancer patients with MUTYH germline heterozygous mutations, clinical features suggestive of familial cancer, and extensive genetic studies with no other mutations and without MUTYH-associated polyposis. Conclusion: With this case series, we intended to provide important data for the understanding of MUTYH as a possible driver of familial cancer, even when only heterozygous mutations are found.