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1.
Otolaryngol Head Neck Surg ; 170(6): 1668-1675, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38329240

RESUMO

OBJECTIVE: To investigate medical student research productivity by institutions associated with otolaryngology residency programs and identify correlates of productivity. STUDY DESIGN: Retrospective review. SETTING: N/A. METHODS: A systematic search for articles indexed on PubMed published by 116 programs from January 1, 2016 to February 28, 2021 was conducted. Primary outcomes were number of faculty publications, first-author medical student publications and medical students from each institution. Secondary outcomes included geographic region, number of otolaryngology faculty members, and program rankings. RESULTS: Nationally, the mean number of faculty per institution was 21.7 at the time of search. Over a 5-year period, there was a mean 98.7 total publications and 15.8 medical student first-author publications per institution consisting of a mean of 10.03 distinct medical students. One-way analysis of variance showed no statistically significant difference in medical student productivity (P = .09) or department size (P = .12) between regions. Number of medical student first-author publications positively correlated to number of faculty (R = .43, P < .05) and number of faculty publications (R = .63, P < .05). The top 30 programs ranked by United States News & World Report or National Institute of Health for funding had a statistically significantly greater mean number of medical student first-author publications and distinct medical student first authors than all other programs (P < .05). CONCLUSION: Greater numbers of faculty members likely provide more mentorship and opportunities that allow medical students to engage in projects that lead to first-author publications. These findings allow institutions to reflect on efforts in medical student engagement and provide data to students for career planning.


Assuntos
Pesquisa Biomédica , Otolaringologia , Estudantes de Medicina , Otolaringologia/educação , Estudantes de Medicina/estatística & dados numéricos , Humanos , Estudos Retrospectivos , Internato e Residência , Estados Unidos , Docentes de Medicina/estatística & dados numéricos , Eficiência
2.
Artigo em Inglês | MEDLINE | ID: mdl-37383329

RESUMO

Objective: To perform a review evaluating management of and complications stemming from dog bite trauma sustained to the head and neck over the past decade. Data Sources: PubMed and Cochrane Library. Methods: The authors searched the PubMed and Cochrane Library databases for relevant published literature. A total of 12 peer-reviewed canine-exclusive series inclusive of 1384 patient cases describing facial dog bite trauma met inclusion criteria. Wounds including fractures, lacerations, contusions, and other soft-tissue injuries were evaluated. Demographics related to clinical course and management, operating room requirements, and antibiotic usage were compiled and analyzed. Initial trauma and surgical management complications were also assessed. Results: 75.5% of patients sustaining dog bites required surgical intervention. Of these patients, 7.8% suffered from postsurgical complications, including hypertrophic scarring (4.3%), postoperative infection (0.8%), or nerve deficits and persistent paresthesias (0.8%). Prophylactic antibiotics were administered to 44.3% of patients treated for facial dog bites and the overall infection rate was 5.6%. Concomitant fracture was present in 1.0% of patients. Conclusion: Primary closure, often in the OR may be necessary, with few cases requiring grafts or flaps. Surgeons should be aware that the most common complication is hypertrophic scarring. Further research is needed to elucidate the role of prophylactic antibiotics.

3.
Head Neck ; 45(8): 1913-1921, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37246898

RESUMO

BACKGROUND: The impact of obesity on outcomes after open laryngeal surgery has not been well-described. METHODS: The NSQIP database was queried for all open laryngeal surgeries including total laryngectomies between 2005 and 2018. Outcomes of patients identified as obese or nonobese by BMI were compared. RESULTS: Of 1865 patients, 20.1% classified as obese. The most common operation performed was total laryngectomy with or without radical neck dissection (73.2%). Operation time and length of hospital stay were significantly less for obese patients. On multivariate analysis, obesity was associated with less bleeding transfusions occurrences (aOR, 0.395, p = 0.0052), surgical complications (aOR, 0.604, p < 0.001), and any complication (aOR, 0.730, p = 0.0019). CONCLUSION: Though there may be an inverse association of obesity with complications and bleeding transfusion occurrences, as well as decreased operation time and length of hospital stay, several confounders and bias may exist; therefore, it is difficult to conclude that the obesity paradox is present.


Assuntos
Neoplasias Laríngeas , Laringectomia , Humanos , Laringectomia/efeitos adversos , Complicações Pós-Operatórias/etiologia , Obesidade/complicações , Obesidade/epidemiologia , Neoplasias Laríngeas/cirurgia , Neoplasias Laríngeas/complicações , Estudos Retrospectivos
4.
Ann Otol Rhinol Laryngol ; 132(1): 50-62, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-35130739

RESUMO

OBJECTIVE: To perform a systematic review to investigate the common presenting symptoms of barosinusitis, the incidence of those findings, the methods for diagnosis, as well as the medical and surgical treatment options. METHODS: A review of PubMed/MEDLINE, EMBASE, and Cochrane Library for articles published between 1967 and 2020 was conducted with the following search term: aerosinusitis OR "sinus squeeze" OR barosinusitis OR (barotrauma AND sinusitis) OR (barotrauma AND rhinosinusitis). Twenty-seven articles encompassing 232 patients met inclusion criteria and were queried for demographics, etiology, presentation, and medical and surgical treatments. RESULTS: Mean age of patients was 33.3 years, where 21.7% were females and 78.3% were males. Causes of barotrauma include diving (57.3%), airplane descent (26.7%), and general anesthesia (0.4%). The most common presentations were frontal pain (44.0%), epistaxis (25.4%), and maxillary pain (10.3%). Most patients received topical steroids (44.0%), oral steroids (28.4%), decongestants (20.7%), and antibiotics (15.5%). For surgical treatment, most patients received functional endoscopic sinus surgery (FESS) (49.6%). Adjunctive surgeries include middle meatal or maxillary antrostomy (20.7%), septoplasty (15.5%), and turbinate surgery (9.1%). The most efficacious medical treatments are as follows: 63.6% success rate with oral steroids (66 treated), 50.0% success rate with topical steroids (102 treated), and 50.0% success rate analgesics (10 treated). For surgical treatments received by greater than 10% of the sample, the most efficacious was FESS (91.5% success rate, 108 treated). CONCLUSION: Oral and topical steroids should be first line therapies. If refractory, then functional endoscopic sinus surgery is an effective treatment.


Assuntos
Barotrauma , Traumatismos Craniocerebrais , Sinusite , Masculino , Feminino , Humanos , Adulto , Endoscopia/métodos , Sinusite/diagnóstico , Sinusite/etiologia , Sinusite/terapia , Barotrauma/diagnóstico , Barotrauma/etiologia , Barotrauma/terapia , Esteroides , Doença Crônica , Traumatismos Craniocerebrais/complicações , Dor
5.
Ital J Dermatol Venerol ; 157(3): 220-227, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35274876

RESUMO

Sarcoidosis is a multiorgan disease commonly evident with skin involvement. Cutaneous manifestations occur in about 25% of sarcoid patients and are of two types: histologically specific sarcoidal infiltrations and a cutaneous reaction pattern not containing sarcoidal changes, usually erythema nodosum. Cutaneous plaques, nodules, and tumors, sometimes with disfiguring facial features are associated with pain and paresthesia. The disease itself may produce substantial morbidity due to visceral involvement. Advances in therapeutic options include tocilizumab, an IL-6 inhibitor, and tofacitinib - a Janus kinase inhibitor. This review discusses sarcoidosis etiology and pathogenesis, its clinical features, differential diagnosis, and management.


Assuntos
Pérnio , Eritema Nodoso , Lúpus Eritematoso Discoide , Sarcoidose , Dermatopatias , Pérnio/complicações , Eritema Nodoso/complicações , Humanos , Lúpus Eritematoso Discoide/complicações , Sarcoidose/diagnóstico , Dermatopatias/tratamento farmacológico
6.
Otolaryngol Head Neck Surg ; 166(1): 48-59, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-33945752

RESUMO

OBJECTIVE: To perform a systematic review to investigate common otologic manifestations of Langerhans cell histiocytosis, the incidence of these findings, methods for diagnosis, as well as medical and surgical management. DATA SOURCES: PubMed/MEDLINE, Embase, and Cochrane Library. REVIEW METHODS: A search of PubMed/MEDLINE, Embase, and Cochrane Library for all articles published between 1963 to 2020 was performed with variations and combinations of the following search terms: Langerhans cell histiocytosis, eosinophilic granuloma, Letterer-Siwe, Hand-Schüller-Christian, otitis, otologic, ear. A review of the references of all included articles was also conducted. RESULTS: Sixty-two articles encompassing 631 patients met inclusion criteria. Otologic symptoms at presentation were found in 246 (39%) patients in the reported studies with 48% reporting bilaterality. The mean age was 14.8 years with a male predominance (64%). The most common otologic presenting symptom was otorrhea (46%). A majority had the multisystem variant (52%). The most common treatment modalities were chemotherapy (52%), followed by surgery (50%), systemic steroids (45%), and radiotherapy (31%). Surgery was performed in 75.8% with unisystem involvement and in 50.6% with multisystem involvement. The most effective treatments included radiotherapy (56% success rate, 17% of treated patients), systemic steroids (44% success, 20% treated), chemotherapy (41% success, 21% treated), and surgical modalities (36% success, 19% treated). CONCLUSIONS: Otologic manifestations that occur with the multisystem variant or are at high risk for central nervous system involvement necessitate systemic treatment. For unifocal lesions, surgery is recommended. Lastly, radiotherapy should be reserved for extensive lesions involving vital structures or presenting in older patients.


Assuntos
Otopatias/diagnóstico , Otopatias/epidemiologia , Histiocitose de Células de Langerhans/complicações , Otopatias/terapia , Feminino , Histiocitose de Células de Langerhans/diagnóstico , Histiocitose de Células de Langerhans/terapia , Humanos , Incidência , Masculino , Prognóstico
7.
Acta Otolaryngol ; 141(6): 579-587, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33825596

RESUMO

BACKGROUND: Eosinophilic Otitis Media (EOM) is a relatively newly defined entity of recurrent and resistant otitis media. OBJECTIVE: To perform a systematic review of otologic manifestations, diagnosis and management of eosinophilic otitis media (EOM). METHODS: 393 patients diagnosed with EOM of 26 studies met inclusion criteria and were assessed for demographics, otologic manifestations, diagnostic criteria fulfilled, and medical and surgical treatments. RESULTS: Most common otologic manifestations were hearing loss (65%), otitis media with effusion (16%), tympanic membrane perforation (13%), and otorrhea (13%). 93% had a predominantly eosinophilic middle ear effusion, 95% had asthma, 85% had a highly viscous middle ear effusion, 71% had nasal polyposis, and 58% had resistance to conventional treatment. For treatment, 39% received intratympanic steroid injections, 33% received systemic steroids, 17% received steroid ear drops and 13% received a biological agent. 39% of patients underwent a surgical intervention with 26% receiving functional endoscopic sinus surgery and 18% receiving myringotomy with tube insertion. Success rates were highest with use of intratympanic steroids (45%), systemic steroids (26%), and biological agents (58%). CONCLUSION: Intratympanic steroids show the most efficacy in treating EOM, and aggressive optimization of asthma may be beneficial in resolving otologic symptoms. Surgery should be reserved for refractory cases and complications.


Assuntos
Eosinofilia , Ventilação da Orelha Média , Otite Média , Esteroides/administração & dosagem , Adulto , Idade de Início , Fatores Biológicos/uso terapêutico , Eosinofilia/complicações , Eosinofilia/diagnóstico , Eosinofilia/tratamento farmacológico , Feminino , Perda Auditiva/etiologia , Humanos , Injeção Intratimpânica , Masculino , Pessoa de Meia-Idade , Otite Média/complicações , Otite Média/diagnóstico , Otite Média/tratamento farmacológico , Otite Média/cirurgia , Otite Média com Derrame/terapia
8.
Otol Neurotol ; 42(4): e380-e387, 2021 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-33534386

RESUMO

OBJECTIVE: To perform a systematic review of the diagnosis, treatment, and management of patients with otologic manifestations of eosinophilic granulomatosis with polyangiitis. DATABASES REVIEWED: PubMed, Embase, Cochrane. METHODS: A systematic search for relevant published literature in PubMed, Cochrane Library, and EMBASE databases was done. Data was collected on demographics, otologic manifestations, specific diagnostic criteria fulfilled, common clinical, and imaging findings as well as medical and surgical treatments received. RESULTS: Fifteen articles encompassing 219 patients met inclusion criteria including 8 case reports and 7 case series. The mean age was 52.8 (range of 24-70). The most common otologic presenting symptoms were hearing loss (76%), otitis media with effusion (44%), vertigo (22%), tinnitus (21%), and chronic otitis media (20%). The most common diagnostic criteria observed in these patients were paranasal sinus abnormalities (75%), asthma (66%), and eosinophilia >10% (44%). The most common treatment was systemic steroids (66%), followed by surgery (52%), with myringotomy with tube insertion (M&T) (32%) and endoscopic sinus surgery (21%) being the most prevalent. Thirty-four percent of patients received an immunosuppressive agent. Successful treatments included systemic steroids (23%), surgical modalities (13%) with M&T being the most common (7%), topical nasal steroids (12%), and cyclophosphamide (10%). CONCLUSION: Hearing loss and a middle ear effusion are the most common presenting otologic manifestations of eosinophilic granulomatosis with polyangiitis. Sinonasal disease was more prevalent in patients with otologic manifestations. Primary treatment consists of systemic steroids and immunomodulation. M&T, endoscopic sinus surgery, and local steroid administration can be adjunctive measures to alleviate local disease.Level of Evidence: Level 1.


Assuntos
Síndrome de Churg-Strauss , Granulomatose com Poliangiite , Otite Média com Derrame , Otite Média , Granulomatose com Poliangiite/complicações , Humanos , Pessoa de Meia-Idade , Ventilação da Orelha Média , Otite Média com Derrame/etiologia , Otite Média com Derrame/cirurgia
9.
J Voice ; 35(6): 901-905, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32146037

RESUMO

OBJECTIVES: To evaluate the laryngeal electromyography findings of bilateral thyroarytenoid muscles in 10 patients with chronic, intractable coughing. METHODS: This is a retrospective cohort case series. Clinical records were reviewed for demographic information, symptoms, and findings on bilateral laryngeal EMG for 10 patients referred for chronic coughing. RESULTS: All thyroarytenoid muscles tested demonstrated electromyographic evidence of neuropathy, with signs of denervation and reinnervation. There was reduced recruitment in all 20 thyroarytenoid muscles studied. In addition, polyphasic motor units were seen in all thyroarytenoid muscles, with increased amplitude in 18 of 20 thyroarytenoid muscles and increased duration in 17 of 20 thyroarytenoid muscles. Additionally, there was electromyographic evidence of synkinesis in 19 of 20 thyroarytenoid muscles studied, a sign of aberrant reinnervation. CONCLUSION: Patients with intractable coughing, despite numerous modalities of treatment, potentially have bilateral neuropathy of the recurrent laryngeal nerves suggesting the potential peripheral as well as central neuropathic changes as the etiology.


Assuntos
Tosse , Músculos Laríngeos , Tosse/diagnóstico , Tosse/etiologia , Eletromiografia , Humanos , Nervo Laríngeo Recorrente , Estudos Retrospectivos
10.
J Voice ; 28(3): 349-55, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24321587

RESUMO

OBJECTIVES: To identify causes of dysphonia in performers and compare causes and aspects of treatment of dysphonia in performers and nonperformers. STUDY DESIGN: Case-control study. METHODS: A chart review of all new patients presenting with a chief complaint of dysphonia over a 1-year period was performed. The prevalence of laryngeal disorders was reviewed and differences between performers and nonperformers were analyzed. The odds ratio of the prevalence of each disorder was computed against performer status as a risk factor. RESULTS: Four hundred seventy-six new patients complaining of dysphonia presented over 12 months; 74 were vocal performers. The median duration of symptoms in performers was 90 days. Phonotraumatic lesions were significantly more prevalent in performers (63.5% vs. 28.6%, P < 0.001), particularly bilateral mid-fold swelling (4-fold increase in performers), pseudocysts (3-fold increase), and vocal fold hemorrhage/ectasia. Neurologic disorders (vocal fold paralysis and spasmodic dysphonia), neoplastic pathologies, and age-related phenomena (atrophy/presbyphonia) were significantly more common in nonperformers. Overall and diagnosis-specific rates of surgical intervention were equal between the two groups. CONCLUSIONS: Phonotraumatic injury is responsible for the majority of dysphonia in vocal performers, to a significantly greater extent than in nonperformers and requires the implementation of standard therapeutic strategies. Awareness of the specific risks and management needs of the performer is of paramount importance to the practice of laryngology of the performing voice.


Assuntos
Disfonia/epidemiologia , Laringe/fisiopatologia , Música , Doenças Profissionais/epidemiologia , Saúde Ocupacional , Canto , Qualidade da Voz , Adolescente , Adulto , Idoso , Estudos de Casos e Controles , Criança , Disfonia/diagnóstico , Disfonia/fisiopatologia , Disfonia/terapia , Feminino , Humanos , Laringoscopia , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Doenças Profissionais/diagnóstico , Doenças Profissionais/fisiopatologia , Doenças Profissionais/terapia , Razão de Chances , Valor Preditivo dos Testes , Prevalência , Fatores de Risco , Fumar/efeitos adversos , Fumar/epidemiologia , Fatores de Tempo , Gravação em Vídeo , Adulto Jovem
11.
Hawaii J Med Public Health ; 72(9 Suppl 4): 14-7, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-24052912

RESUMO

For patients with suspected celiac disease, the American Gastroenterological Association recommends initial screening with anti-tissue transglutaminase antibody (tTG) and confirmation testing with small bowel biopsy. However, at Tripler Army Medical Center we routinely screen patients with both tTG and anti-gliadin antibodies (AGA) in combination. The purpose of this study was to evaluate whether this dual screening method adds to the evaluation of patients with suspected celiac disease or results in more false-positive results than tTG screening alone. A retrospective chart review of all tTG and AGA screening serologies at Tripler Army Medical Center between September 2008 and March 2012 was performed. For patients with positive serologic testing, small bowel biopsy results or reasoning for deferring biopsy were investigated. tTG was found to have a higher positive predictive value for celiac disease than AGA, however AGA identified 5 patients (19% of biopsy confirmed celiac disease) that had a negative tTG and would not have been identified by tTG screening alone. Using AGA in combination with tTG should be considered if the goal of screening is to identify all patients with celiac disease, with the understanding that this strategy will generate more false positive tests and result in additional patients undergoing small bowel biopsy.


Assuntos
Anticorpos/sangue , Doença Celíaca/diagnóstico , Proteínas de Ligação ao GTP/imunologia , Gliadina/imunologia , Intestino Delgado/patologia , Transglutaminases/imunologia , Adolescente , Adulto , Biópsia , Doença Celíaca/sangue , Doença Celíaca/patologia , Criança , Reações Falso-Positivas , Feminino , Humanos , Masculino , Valor Preditivo dos Testes , Proteína 2 Glutamina gama-Glutamiltransferase , Estudos Retrospectivos , Adulto Jovem
12.
Case Rep Emerg Med ; 2013: 687931, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23956889

RESUMO

Postpolypectomy electrocoagulation syndrome is a rare complication of polypectomy with electrocautery and is characterized by a transmural burn of the colon wall. Patients typically present within 12 hours after the procedure with symptoms mimicking colonic perforation. Presented is the case of a 56-year-old man who developed abdominal pain six hours after colonoscopy during which polypectomy was performed using snare cautery. CT imaging of the abdomen revealed circumferential thickening of the wall of the transverse colon without evidence of free air. The patient was treated conservatively as an outpatient and had resolution of his pain over the following four days. Recognition of the diagnosis and understanding of the treatment are important to avoid unnecessary exploratory laparotomy or hospitalization.

13.
Hawaii J Med Public Health ; 72(1): 11-3, 2013 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-23386989

RESUMO

Nausea and vomiting are common complaints during pregnancy. Their severity and persistence can lead to the diagnosis of hyperemesis gravidarum, which is associated with weight loss, ketonuria, and decreased fetal birth weight. Hypercalcemia in pregnancy can confound these common gastrointestinal symptoms as well as have its own intrinsic maternal-fetal risks. A 23-year-old woman was diagnosed with primary hyperparathyroidism after multiple visits to the emergency department and the obstetrical clinic with symptoms of nausea and vomiting. Her symptoms were initially attributed to hyperemesis gravidarum and only after multiple hospital visits was her hypercalcemia discovered. Her workup led to the diagnosis of primary hyperparathyroidism caused by a solitary parathyroid adenoma. The patient was treated conservatively with intravenous fluids and eventually surgical resection of the parathyroid adenoma which led to complete resolution of her symptoms. This case demonstrates the diagnostic and therapeutic challenges associated with hyperparathyroidism in pregnancy.


Assuntos
Adenoma/complicações , Hiperêmese Gravídica/diagnóstico , Hiperparatireoidismo Primário/etiologia , Neoplasias das Paratireoides/complicações , Complicações Neoplásicas na Gravidez , Adenoma/diagnóstico , Diagnóstico Diferencial , Feminino , Humanos , Hiperparatireoidismo Primário/diagnóstico , Neoplasias das Paratireoides/diagnóstico , Gravidez , Adulto Jovem
14.
Nucleic Acids Res ; 38(4): 1217-27, 2010 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-19965770

RESUMO

Acetyl-CoA Carboxylase catalyzes the first committed step in fatty acid synthesis. Escherichia coli acetyl-CoA carboxylase is composed of biotin carboxylase, carboxyltransferase and biotin carboxyl carrier protein functions. The accA and accD genes that code for the alpha- and beta-subunits, respectively, are not in an operon, yet yield an alpha(2)beta(2) carboxyltransferase. Here, we report that carboxyltransferase regulates its own translation by binding the mRNA encoding its subunits. This interaction is mediated by a zinc finger on the beta-subunit; mutation of the four cysteines to alanine diminished nucleic acid binding and catalytic activity. Carboxyltransferase binds the coding regions of both subunit mRNAs and inhibits translation, an inhibition that is relieved by the substrate acetyl-CoA. mRNA binding reciprocally inhibits catalytic activity. Preferential binding of carboxyltransferase to RNA in situ was shown using fluorescence resonance energy transfer. We propose an unusual regulatory mechanism by which carboxyltransferase acts as a 'dimmer switch' to regulate protein production and catalytic activity, while sensing the metabolic state of the cell through acetyl-CoA concentration.


Assuntos
Acetil-CoA Carboxilase/genética , Carboxil e Carbamoil Transferases/genética , Proteínas de Escherichia coli/genética , Regulação Bacteriana da Expressão Gênica , Regulação Enzimológica da Expressão Gênica , Biossíntese de Proteínas , Acetil-CoA Carboxilase/química , Acetil-CoA Carboxilase/metabolismo , Sítios de Ligação , Carboxil e Carbamoil Transferases/química , Carboxil e Carbamoil Transferases/metabolismo , Catálise , DNA/metabolismo , Escherichia coli/enzimologia , Escherichia coli/genética , Proteínas de Escherichia coli/química , Proteínas de Escherichia coli/metabolismo , Subunidades Proteicas/biossíntese , Subunidades Proteicas/genética , Subunidades Proteicas/metabolismo , RNA Mensageiro/química , RNA Mensageiro/metabolismo , Dedos de Zinco
15.
Laryngoscope ; 120(2): 291-6, 2010 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-19950375

RESUMO

OBJECTIVES/HYPOTHESIS: To describe and define laryngeal neuropathy in Charcot-Marie-Tooth (CMT) disease. STUDY DESIGN/METHODS: Retrospective record review from a university laryngology practice. RESULTS: Four adult CMT patients presented with laryngeal symptoms. Three patients exhibited bilateral vocal fold palsy, in each case with more severe hypomobility on the left. One case exhibited an isolated left vocal fold palsy. All patients complained of hoarseness and stridor, three had dyspnea, two patients had dysphagia, and one had obstructive sleep apnea (OSA). One patient has required airway surgery to date. Genetic testing revealed known sequence alterations in one case and sequence alterations previously not associated with laryngeal dysfunction in two cases. One case was familial and two were sporadic; information is not available in a fourth. CONCLUSIONS: The clinical course of the cases suggests slowly progressive neuropathy that appears to be nerve length dependent. The lack of severe respiratory distress despite dense bilateral paresis is consistent with existing reports and with the reported low rate of tracheostomy in adults with laryngeal manifestations of CMT. Genetic testing does not currently inform expectations or management of laryngeal disease. Dyspnea, dysphagia, and OSA symptoms in patients with CMT require careful laryngologic evaluation.


Assuntos
Doença de Charcot-Marie-Tooth/complicações , Mutação , Paralisia das Pregas Vocais/genética , Adulto , Doença de Charcot-Marie-Tooth/genética , Doença de Charcot-Marie-Tooth/fisiopatologia , Eletromiografia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estroboscopia , Paralisia das Pregas Vocais/complicações , Paralisia das Pregas Vocais/fisiopatologia
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