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1.
OTO Open ; 8(3): e70013, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39296475

RESUMEN

Objective: This study aimed to evaluate the impact of endoscopic sinus surgery (ESS) on asthma severity up to 12 months after surgical intervention. Study Design: Retrospective cohort. Setting: Tertiary care center. Methods: Patients with a history of asthma and Chronic Rhinosinusitis (CRS) who underwent ESS between 2013 and 2023 were included. Asthma severity was assessed according to current Global Initiative for Asthma (GINA) guidelines, classifying patients into mild, moderate, and severe based on medication requirements. Asthma severity was evaluated up to 3 months prior to ESS and 1-year post-ESS. Patients with aspirin-exacerbated respiratory disease (AERD) were excluded. Statistical analysis was performed using McNemar test and Wilcoxon signed-rank test to assess differences in asthma severity, medication doses, and number of medications. Results: Sixty-five patients were included, of which 44 (67.7%) had CRS with nasal polyps (CRSwNP) and 21 (32.3%) had CRS without nasal polyps (CRSsNP). No significant differences were found in asthma severity pre- and post-ESS (P = .175). Similarly, no differences were found in ICS doses (P = .999), total number of prescribed medications (P = .157) or presence of exacerbations before and after ESS (P = .078). However, a significant increase in time from last rescue inhaler use was noted after ESS, increasing from a median of 6.71 to 23.1 weeks (P = .004). Conclusion: This study is the first to assess the impact of ESS on asthma severity in a real-world setting. Our findings suggest that ESS does not impact asthma severity classification. However, it might provide relief of asthma symptoms in the early postoperative period.

2.
Artículo en Inglés | MEDLINE | ID: mdl-39180300

RESUMEN

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.

3.
OTO Open ; 8(3): e70000, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39211787

RESUMEN

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.

4.
Am J Rhinol Allergy ; : 19458924241272990, 2024 Aug 25.
Artículo en Inglés | MEDLINE | ID: mdl-39183515

RESUMEN

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.

5.
J Voice ; 2024 Aug 12.
Artículo en Inglés | MEDLINE | ID: mdl-39138039

RESUMEN

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.

6.
Laryngoscope ; 2024 Jul 06.
Artículo en Inglés | MEDLINE | ID: mdl-38970445

RESUMEN

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.

7.
Laryngoscope Investig Otolaryngol ; 9(3): e1265, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38835336

RESUMEN

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.

8.
BMC Med Educ ; 24(1): 483, 2024 May 01.
Artículo en Inglés | MEDLINE | ID: mdl-38693491

RESUMEN

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.


Asunto(s)
Otolaringología , Entrenamiento Simulado , Humanos , Otolaringología/educación , Entrenamiento Simulado/economía , Competencia Clínica , Internado y Residencia , Análisis Costo-Beneficio , Países en Desarrollo
9.
Ear Nose Throat J ; : 1455613231226017, 2024 Jan 24.
Artículo en Inglés | MEDLINE | ID: mdl-38264837

RESUMEN

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.

10.
Laryngoscope ; 134(2): 773-778, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-37597175

RESUMEN

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.


Asunto(s)
Trastornos de Deglución , Síndrome de Ehlers-Danlos , Inestabilidad de la Articulación , Humanos , Prevalencia , Ronquera , Trastornos de Deglución/epidemiología , Trastornos de Deglución/etiología , Estudios Retrospectivos , Inestabilidad de la Articulación/epidemiología , Inestabilidad de la Articulación/diagnóstico , Síndrome de Ehlers-Danlos/complicaciones , Síndrome de Ehlers-Danlos/epidemiología , Síndrome de Ehlers-Danlos/diagnóstico
12.
Res Sq ; 2023 Dec 08.
Artículo en Inglés | MEDLINE | ID: mdl-38106212

RESUMEN

Importance: There is a notable lack of low-cost OHNS simulation models that are relevant for early medical trainees and students. By conducting this study, we will understand the current landscape of low-cost otolaryngology-head and neck surgery simulation for early medical trainees and students. Objectives: 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. Evidence Review: 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. Findings: Of the 1706 studies screened, 17 met the 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 and Relevance: 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.

13.
Medicine (Baltimore) ; 102(30): e34204, 2023 Jul 28.
Artículo en Inglés | MEDLINE | ID: mdl-37505171

RESUMEN

Alleles in the VKORC1, CYP2C9, and CYP4F2 genes can influence Warfarin dose requirement. We aimed to determine the frequency of the polymorphisms in these genes in healthy individuals from Cali, Colombia. Observational study where total blood was collected from 107 healthy donors who attended a higher educational institution in Cali, Colombia. Sanger sequencing of exons 2, 3, 5, and 7 of the CYP2C9 gene; the common promoter region of CYP (rs12777823); exon 11 of CPY4F2 and the polymorphism c.-1639G > A in the VKORC1 gene promoter was performed. CYP2C9*2, CYP2C9*3, CYP2C9*8, CYP2C9*9, CYP2C9*11, CYP4F2*3, rs12777823, and VKORC1*2 were detected. The latter had the highest frequency with 80 (74.8%) participants in a heterozygous or homozygous state. The least frequent allele was CYP2C9*11 with only 1 carrier. Combined haplotypes (VKORC1 *1/*2 or *2/*2 and CYP2C9 *1/*2 or *2/*2) were identified in 14 (13.7%) subjects. Both frequencies found in the VKORC1 and CYP2C9 alleles were similar to the ones reported for Latin Americans of European and Native American Ancestry. VKORC1*2 allele, the main genetic contributor to Warfarin dosing requirement, was the variant with the highest frequency (74.8% subjects, with a frequency of the alternative allele (A) of 50%). Our findings provide researchers with a greater insight regarding the frequency of common polymorphisms that affect anticoagulation treatment in the Cali (Colombia) population.


Asunto(s)
Anticoagulantes , Warfarina , Humanos , Warfarina/uso terapéutico , Citocromo P-450 CYP2C9/genética , Anticoagulantes/uso terapéutico , Colombia , Frecuencia de los Genes , Familia 4 del Citocromo P450/genética , Vitamina K Epóxido Reductasas/genética , Genotipo
14.
Am J Rhinol Allergy ; 37(5): 550-557, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37262001

RESUMEN

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.


Asunto(s)
Rinitis , Sinusitis , Humanos , Estudios Retrospectivos , Receptores de Trasplantes , Rinitis/epidemiología , Sinusitis/epidemiología , Factores de Riesgo , Endoscopía , Enfermedad Crónica
15.
JMIR Res Protoc ; 12: e41811, 2023 Nov 29.
Artículo en Inglés | MEDLINE | ID: mdl-37191952

RESUMEN

BACKGROUND: The epidemiology, morbidity, and burden of disease related to airway sequelae associated with invasive mechanical ventilation in the context of the COVID-19 pandemic remain unclear. OBJECTIVE: This scoping review aims to summarize the current knowledge regarding airway sequelae after severe SARS-CoV-2 infection. This knowledge will help guide research endeavors and decision-making in clinical practice. METHODS: This scoping review will include participants of all genders, and no particular age group who developed post-COVID-19 airway-related complication will be excluded. No exclusion criteria will be applied from country, language, or document type. The information source will include analytical observational studies. Unpublished data will not be completely covered as gray literature will be covered. A total of 2 independent reviewers will participate in the process of screening, selection, and data extraction, and the whole process will be performed blindly. Conflict between the reviewers will be solved through discussion and an additional reviewer. The results will be reported by using descriptive statistics, and information will be displayed on RedCap (Research Electronic Data Capture). RESULTS: The literature search was conducted in May 2022 in the following databases: PubMed, Embase, SCOPUS, Cochrane Library, as well as LILACS and gray literature to identify observational studies; a total of 738 results were retrieved. The scoping review will be finished by March 2023. CONCLUSIONS: This scoping review will describe current knowledge on the most frequently encountered laryngeal or tracheal sequelae in patients exposed to mechanical ventilation due to SARS-CoV-2 infection. This scoping review will find the incidence of airway sequelae post COVID-19 and the most common sequelae such as airway granuloma, vocal fold paralysis, and airway stenoses. Future studies should evaluate the incidence of these disorders. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/41811.

16.
Sci Rep ; 13(1): 6869, 2023 04 27.
Artículo en Inglés | MEDLINE | ID: mdl-37106005

RESUMEN

Up to 40% of rare disorders (RD) present facial dysmorphologies, and visual assessment is commonly used for clinical diagnosis. Quantitative approaches are more objective, but mostly rely on European descent populations, disregarding diverse population ancestry. Here, we assessed the facial phenotypes of Down (DS), Morquio (MS), Noonan (NS) and Neurofibromatosis type 1 (NF1) syndromes in a Latino-American population, recording the coordinates of 18 landmarks in 2D images from 79 controls and 51 patients. We quantified facial differences using Euclidean Distance Matrix Analysis, and assessed the diagnostic accuracy of Face2Gene, an automatic deep-learning algorithm. Individuals diagnosed with DS and MS presented severe phenotypes, with 58.2% and 65.4% of significantly different facial traits. The phenotype was milder in NS (47.7%) and non-significant in NF1 (11.4%). Each syndrome presented a characteristic dysmorphology pattern, supporting the diagnostic potential of facial biomarkers. However, population-specific traits were detected in the Colombian population. Diagnostic accuracy was 100% in DS, moderate in NS (66.7%) but lower in comparison to a European population (100%), and below 10% in MS and NF1. Moreover, admixed individuals showed lower facial gestalt similarities. Our results underscore that incorporating populations with Amerindian, African and European ancestry is crucial to improve diagnostic methods of rare disorders.


Asunto(s)
Neurofibromatosis , Enfermedades Raras , Humanos , Colombia , Cara , Fenotipo
17.
J Voice ; 2023 Apr 28.
Artículo en Inglés | MEDLINE | ID: mdl-37121840

RESUMEN

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.

18.
Appl Clin Genet ; 16: 53-62, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37096204

RESUMEN

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.

19.
Rev. Cuerpo Méd. Hosp. Nac. Almanzor Aguinaga Asenjo ; 16(2): e1869, abr.-jun. 2023. graf
Artículo en Español | LILACS-Express | LILACS | ID: biblio-1565105

RESUMEN

RESUMEN Los artistas moches (50 y 850 años d. C.) son unos de los mayores representantes plásticos en los andes centrales durante la época prehispánica, dentro de este escenario fue posible el análisis de una pieza de cerámica registrada en el sitio arqueológico Huaca de la Luna, ubicada en Trujillo. La vasija corresponde a dos individuos con características morfológicas que permite asociarlos con el padecimiento de lipodistrofia congénita generalizada tipo 2. Considerando la zona geográfica, los rasgos físicos y los casos actuales de esta enfermedad nos permite indicar que en la sociedad Mochica probablemente existieron personas con lipodistrofia congénita generalizada.


ABSTRACT The Moche artist are among the most outstanding plastic representatives in the central Andes during the pre-Hispanic era, within this scenario, we could analyze a sculptural ceramic piece (code C-1335) recorded in the Huaca de la Luna archaeological site in Trujillo, Perú. The vessel corresponds to two individuals with morphological characteristics that allow them to be associated with type 2 congenital generalized lipodystrophy. Considering the geographical, the physical features, and the current cases of this disease, allow us to indicate that people with generalized congenital lipodystrophy probably existed in Mochica society during pre-Hispanic times.

20.
Otolaryngol Head Neck Surg ; 169(1): 12-20, 2023 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-36939486

RESUMEN

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.


Asunto(s)
Asma Inducida por Aspirina , Pólipos Nasales , Sinusitis , Humanos , Aspirina/efectos adversos , Estudios Transversales , Asma Inducida por Aspirina/terapia , Sinusitis/cirugía , Desensibilización Inmunológica , Pólipos Nasales/complicaciones
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