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1.
Ear Nose Throat J ; : 1455613231226017, 2024 Jan 24.
Artigo em Inglês | MEDLINE | ID: mdl-38264837

RESUMO

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.

2.
Laryngoscope ; 134(2): 773-778, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37597175

RESUMO

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.


Assuntos
Transtornos de Deglutição , Síndrome de Ehlers-Danlos , Instabilidade Articular , Humanos , Prevalência , Rouquidão , Transtornos de Deglutição/epidemiologia , Transtornos de Deglutição/etiologia , Estudos Retrospectivos , Instabilidade Articular/epidemiologia , Instabilidade Articular/diagnóstico , Síndrome de Ehlers-Danlos/complicações , Síndrome de Ehlers-Danlos/epidemiologia , Síndrome de Ehlers-Danlos/diagnóstico
4.
Res Sq ; 2023 Dec 08.
Artigo em Inglês | MEDLINE | ID: mdl-38106212

RESUMO

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.

5.
Medicine (Baltimore) ; 102(30): e34204, 2023 Jul 28.
Artigo em Inglês | MEDLINE | ID: mdl-37505171

RESUMO

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.


Assuntos
Anticoagulantes , Varfarina , Humanos , Varfarina/uso terapêutico , Citocromo P-450 CYP2C9/genética , Anticoagulantes/uso terapêutico , Colômbia , Frequência do Gene , Família 4 do Citocromo P450/genética , Vitamina K Epóxido Redutases/genética , Genótipo
6.
Am J Rhinol Allergy ; 37(5): 550-557, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37262001

RESUMO

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.


Assuntos
Rinite , Sinusite , Humanos , Estudos Retrospectivos , Transplantados , Rinite/epidemiologia , Sinusite/epidemiologia , Fatores de Risco , Endoscopia , Doença Crônica
7.
JMIR Res Protoc ; 12: e41811, 2023 Nov 29.
Artigo em Inglês | MEDLINE | ID: mdl-37191952

RESUMO

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.

8.
J Voice ; 2023 Apr 28.
Artigo em Inglês | MEDLINE | ID: mdl-37121840

RESUMO

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.

9.
Appl Clin Genet ; 16: 53-62, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37096204

RESUMO

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.

10.
Sci Rep ; 13(1): 6869, 2023 04 27.
Artigo em Inglês | MEDLINE | ID: mdl-37106005

RESUMO

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.


Assuntos
Neurofibromatoses , Doenças Raras , Humanos , Colômbia , Face , Fenótipo
11.
Otolaryngol Head Neck Surg ; 169(1): 12-20, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-36939486

RESUMO

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.


Assuntos
Asma Induzida por Aspirina , Pólipos Nasais , Sinusite , Humanos , Aspirina/efeitos adversos , Estudos Transversais , Asma Induzida por Aspirina/terapia , Sinusite/cirurgia , Dessensibilização Imunológica , Pólipos Nasais/complicações
12.
Otolaryngol Head Neck Surg ; 168(5): 1217-1227, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-36939492

RESUMO

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.


Assuntos
Pólipos Nasais , Transplante de Órgãos , Rinite , Sinusite , Humanos , Estudos Retrospectivos , Sinusite/epidemiologia , Sinusite/etiologia , Sinusite/cirurgia , Pólipos Nasais/complicações , Doença Crônica , Endoscopia , Rinite/epidemiologia , Rinite/cirurgia , Rinite/complicações , Fatores de Risco
13.
J Voice ; 37(4): 610-615, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33994255

RESUMO

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.


Assuntos
Laringe , Neurilemoma , Paraganglioma , Paralisia das Pregas Vocais , Humanos , Paralisia das Pregas Vocais/diagnóstico , Paralisia das Pregas Vocais/etiologia , Paralisia das Pregas Vocais/cirurgia , Resultado do Tratamento , Laringe/cirurgia , Paraganglioma/complicações , Paraganglioma/diagnóstico , Paraganglioma/cirurgia , Neurilemoma/complicações , Neurilemoma/cirurgia , Nervo Laríngeo Recorrente/cirurgia
14.
Indian J Otolaryngol Head Neck Surg ; 74(Suppl 2): 2595-2598, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36452584

RESUMO

Aerodigestive obstruction due to cricoid hypertrophy is a rare and potentially life-threatening condition. We present a two-year-old female patient who displayed repetitive respiratory infections, swallowing disorder, and malnutrition without any eye signs or symptoms of airway alterations. We described a patient with aerodigestive obstruction generating a marked narrowing of the trachea immediately below the larynx due to severe thickening of the cricoid cartilage. She was successfully treated with surgery, and the clinical and radiological features of this condition are presented here with a review of the literature.

15.
Ear Nose Throat J ; : 1455613221120731, 2022 Nov 10.
Artigo em Inglês | MEDLINE | ID: mdl-36358031

RESUMO

This case report aims to raise awareness of the possibility of amyotrophic lateral sclerosis (ALS) diagnosis in patients presenting to the Otolaryngology Department. We describe the case of a 66-year-old woman with hoarseness who was evaluated by several physicians and was referred to an ALS specialist only a year after symptom onset. Our case highlights the importance of considering motor neuron etiologies in patients with voice complaints. Early identification and referral to a specialist are critical for accurate diagnosis and prognosis and may be the key to slowing the disease's progression.

16.
Transplant Proc ; 54(8): 2381-2387, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36270856

RESUMO

BACKGROUND: Successful vascular adult thymus transplant has been reported in different animal models but not in rabbits. These animal models are slightly larger than the murine and substantially smaller than the porcine. We describe in rabbits a supermicrosurgical technique for vascular neonatal thymus transplant and provide histologic evidence of tissue viability. METHODS: Newborn (New Zealand, n = 12, 6 female) and adult (New Zealand, n = 12, 6 female) rabbits were used as donors and recipients, respectively. Whole thymuses were extracted from donors and grafted into recipients. Immediate direct vascularization was accomplished by anastomosis to the right common carotid artery and the right external vena cava. At day 14, graft sites were surgically explored, and grafted thymuses were explanted for histologic evaluation. All recipients were followed over 2 weeks for clinical signs of graft-vs-host reaction. RESULTS: The vascular pedicles of the thymus grafts ranged 0.5 to 0.8 mm in vessel diameter. From the 12 transplants, 3 recipients (3/12; 25%) died during the surgical procedure because of blood loss after clamp release. On histology, from the 9 (9/12; 75%) successful at revascularization, none (0/9; 0%) had signs of acute rejection or necrosis, and all (9/9; 100%) evidenced normal cytoarchitecture. No clinical signs of graft-vs-host reaction were evidenced during follow-up. CONCLUSIONS: Vascular neonatal thymus transplant in rabbits is surgically feasible. This technique will enable a novel approach for studying the biology of the thymus.


Assuntos
Doadores de Tecidos , Procedimentos Cirúrgicos Vasculares , Coelhos , Feminino , Camundongos , Animais , Suínos , Humanos , Anastomose Cirúrgica , Modelos Animais , Veias Cavas
17.
JMIR Res Protoc ; 11(6): e32986, 2022 Jun 07.
Artigo em Inglês | MEDLINE | ID: mdl-35671071

RESUMO

BACKGROUND: Mild to moderate hearing loss is common in patients with mucopolysaccharidosis (MPS) IVA. The hearing loss can be conductive, sensorineural, or mixed. However, in these patients, the mixed form is frequent, attributed to the combination of conductive and neurosensory elements, with slowly progressive evolution. Conductive hearing loss may be secondary to recurrent upper respiratory tract infections, serous otitis media, and deformities of the ear ossicles due to the accumulation of glycosaminoglycans (GAGs). Meanwhile, the sensorineural form is mainly attributed to the accumulation of GAGs in the auditory system. OBJECTIVE: The aim of this scoping review is to understand the extent and type of evidence in relation to the physiopathology, classification, epidemiology, and clinical management of hearing loss and the effect of therapy for hearing loss in patients with MPS IVA. METHODS: This scoping review includes participants across all genders and of no particular age group who are diagnosed with MPS IVA and develop hearing loss as a comorbidity. No exclusion criteria (country, language, or document type) will be applicable. The information sources will include experimental and quasi-experimental, analytical observational, observational, and qualitative studies. Unpublished literature will not be covered. Grey literature will be covered. A total of 2 independent reviewers will participate in the process of screening the literature, paper selection, and data extraction, and this process will be performed blindly. When all manuscripts have been selected, disagreements that arise between the 2 reviewers at each stage of the selection process will be resolved through discussion or with an additional reviewer. Results will be reported with descriptive statistics and information will be displayed in a diagrammatic or tabular manner, as explained in the JBI guidelines. RESULTS: The literature search was performed in November 2021 in MEDLINE, LILACS (Literatura Latino-Americana e do Caribe em Ciências da Saúde), the Cochrane Library, ScienceDirect, Google Scholar, and OpenGrey; a total of 780 results were retrieved. Completion of the review is expected in mid-2022. CONCLUSIONS: This scoping review will be the first to describe the extent of the information regarding the development of hearing loss in the MPS IVA population. The data gathered by this review may lead to an understanding of the grade of hearing loss in this population and allow for the assessment of possible interventions according to the disease pattern. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): PRR1-10.2196/32986.

18.
EJIFCC ; 33(1): 28-42, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35645695

RESUMO

Lysosomal storage disorders (LSDs) are a group of rare and genetic diseases produced by mutations in genes coding for proteins involved in lysosome functioning. Protein defect leads to the lysosomal accumulation of undegraded macromolecules including glycoproteins, glycosaminoglycans, lipids, and glycogen. Depending on the stored substrate, several pathogenic cascades may be activated leading to multisystemic and progressive disorders affecting the brain, eye, ear, lungs, heart, liver, spleen, kidney, skin, or bone. In addition, for some of these disorders, hematological findings have been also reported. In this paper, we review the major hematological alterations in LSDs based on 56 case reports published between 2010 and 2020. Hematological alterations were reported in sphingolipidosis, mucopolysaccharidoses, mucolipidoses, neuronal ceroid lipofuscinosis, glycogenosis, glycoproteinosis, cystinosis, and cholesteryl ester storage disease. They were reported alterations in red cell linage and leukocytes, such as anemia and morphology changes in eosinophils, neutrophils, monocytes, and lymphocytes. In addition, changes in platelet counts (thrombocytopenia) and leukocyte abnormalities on non-peripheral blood samples were also reported for some LSDs. Although in most of the cases these hematological alterations are not pathognomonic of a specific disease or group of LSDs, since they can be easily identified in general clinical laboratories, their identification may contribute to the diagnosis of these disorders. In this sense, we hope that this review contributes to the awareness of the importance of hematological alterations in the diagnosis of LSDs.

19.
20.
Indian J Otolaryngol Head Neck Surg ; 74(Suppl 2): 3262-3267, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-35402214

RESUMO

Coronavirus disease 2019 (COVID-19) has increased the risk of developing severe acute respiratory distress syndrome and subsequent moderate to severe laryngotracheal stenoses (LSTs) with an early presentation that occurs between two and three months after SARS-CoV-2 infection. We present a series of 12 cases of LST following SARS-CoV-2 infection. Dense lymphocyte infiltration with multinuclear giant cell granulomas was found on biopsy with intranuclear inclusions, suggestive of viral cytopathic effects in one case and intravascular fibrin thrombi with perivascular mononuclear infiltrate of CD3 + T lymphocytes. We present the largest and only series that describes clinical and histopathological characteristics of LTS and the management and outcomes after early laryngotracheal reconstruction in the context of the SARS-CoV-2 outbreak.

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