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1.
J Med Genet ; 61(5): 459-468, 2024 Apr 19.
Artigo em Inglês | MEDLINE | ID: mdl-38296632

RESUMO

BACKGROUND: Townes-Brocks syndrome (TBS) is a rare genetic disorder characterised by multiple malformations. Due to its phenotypic heterogeneity and rarity, diagnosis and recognition of TBS can be challenging and there has been a lack of investigation of patients with atypical TBS in large cohorts and delineation of their phenotypic characteristics. METHODS: We screened SALL1 and DACT1 variants using next-generation sequencing in the China Deafness Genetics Consortium (CDGC) cohort enrolling 20 666 unrelated hearing loss (HL) cases. Comprehensive clinical evaluations were conducted on seven members from a three-generation TBS family. Combining data from previously reported cases, we also provided a landscape of phenotypes and genotypes of patients with TBS. RESULTS: We identified five novel and two reported pathogenic/likely pathogenic (P/LP) SALL1 variants from seven families. Audiological features in patients differed in severity and binaural asymmetry. Moreover, previously undocumented malformations in the middle and inner ear were detected in one patient. By comprehensive clinical evaluations, we further provide evidence for the causal relationship between SALL1 variation and certain endocrine abnormalities. Penetrance analysis within familial contexts revealed incomplete penetrance among first-generation patients with TBS and a higher disease burden among their affected offspring. CONCLUSION: This study presents the first insight of genetic screening for patients with TBS in a large HL cohort. We broadened the phenotypic-genotypic spectrum of TBS and our results supported an underestimated prevalence of TBS. Due to the rarity and phenotypic heterogeneity of rare diseases, broader spectrum molecular tests, especially whole genome sequencing, can improve the situation of underdiagnosis and provide effective recommendations for clinical management.


Assuntos
Anormalidades Múltiplas , Anus Imperfurado , Perda Auditiva Neurossensorial , Polegar/anormalidades , Fatores de Transcrição , Humanos , Mutação , Fatores de Transcrição/genética , Síndrome , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/genética , Fenótipo , Proteínas Nucleares/genética , Proteínas Adaptadoras de Transdução de Sinal/genética
2.
BMC Cancer ; 24(1): 1108, 2024 Sep 05.
Artigo em Inglês | MEDLINE | ID: mdl-39237932

RESUMO

BACKGROUND: Patients with head and neck cancers (HNC) experience many transitions in care (TiC), occurring when patients are transferred between healthcare providers and/or settings. TiC can compromise patient safety, decrease patient satisfaction, and increase healthcare costs. The evidence around TiC among patients with HNC is sparse. The objective of this study was to improve our understanding of TiC among patients with HNC to identify ways to improve care. METHODS: This multimethod study consisted of two phases: Phase I (retrospective population-based cohort study) characterized the number and type of TiC that patients with HNC experienced using deterministically linked, population-based administrative health data in Alberta, Canada (January 1, 2012, to September 1, 2020), and Phase II (qualitative descriptive study) used semi-structured interviews to explore the lived experiences of patients with HNC and their healthcare providers during TiC. RESULTS: There were 3,752 patients with HNC; most were male (70.8%) with a mean age at diagnosis of 63.3 years (SD 13.1). Patients underwent an average of 1.6 (SD 0.7) treatments, commonly transitioning from surgery to radiotherapy (21.2%). Many patients with HNC were admitted to the hospital during the study period, averaging 3.3 (SD 3.0) hospital admissions and 7.8 (SD 12.6) emergency department visits per patient over the study period. Visits to healthcare providers were also frequent, with the highest number of physician visits being to general practitioners (average = 70.51 per patient). Analysis of sixteen semi-structured interviews (ten patients with HNC and six healthcare providers) revealed three themes: (1) Navigating the healthcare system including challenges with the complexity of HNC care amongst healthcare system pressures, (2) Relational head and neck cancer care which encompasses patient expectations and relationships, and (3) System and individual impact of transitions in care. CONCLUSIONS: This study identified challenges faced by both patients with HNC and their healthcare providers amidst the frequent TiC within cancer care, which was perceived to have an impact on quality of care. These findings provide crucial insights that can inform and guide future research or the development of health interventions aiming to improve the quality of TiC within this patient population.


Assuntos
Neoplasias de Cabeça e Pescoço , Humanos , Neoplasias de Cabeça e Pescoço/terapia , Neoplasias de Cabeça e Pescoço/psicologia , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Estudos Retrospectivos , Alberta , Transferência de Pacientes , Satisfação do Paciente , Pesquisa Qualitativa , Continuidade da Assistência ao Paciente
3.
Am J Med Genet A ; 194(3): e63456, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37916923

RESUMO

Previous studies have shown that the 22q11.2 microdeletion, associated with 22q11.2 deletion syndrome (22q11.2DS), conveys an increased risk of chronic otitis media, and hearing loss at young age. This study reports on hearing loss and history of otolaryngological conditions in adults with 22q11.2DS. We conducted a retrospective study of 60 adults with 22q11.2DS (41.7% male) at median age 25 (range 16-74) years who had visited an otolaryngologist and audiologist for routine assessment at a 22q11.2 expert center. Demographic, genetic, audiometric, and otolaryngological data were systematically extracted from the medical files. Regression analysis was used to evaluate the effect of age, sex, full-scale intelligence quotient, and history of chronic otitis media on the severity of hearing loss. Hearing loss, mostly high-frequency sensorineural, was found in 78.3% of adults. Higher age and history of chronic otitis media were associated with more severe hearing loss. Otolaryngological conditions with possible treatment implications included chronic otitis media (56.7%), globus pharyngeus (18.3%), balance problems (16.7%), and obstructive sleep apnea (8.3%). The results suggest that  in 22q11.2DS, high-frequency hearing loss appears to be common from a young adult age, and often unrecognized. Therefore, we recommend periodic audiometric screening in all adults, including high-frequency ranges.


Assuntos
Surdez , Síndrome de DiGeorge , Perda Auditiva , Otite Média , Adulto Jovem , Humanos , Masculino , Adolescente , Adulto , Pessoa de Meia-Idade , Idoso , Feminino , Síndrome de DiGeorge/complicações , Síndrome de DiGeorge/genética , Síndrome de DiGeorge/diagnóstico , Estudos Retrospectivos , Perda Auditiva/complicações , Perda Auditiva/diagnóstico , Perda Auditiva/genética , Orelha , Otite Média/complicações , Otite Média/genética
4.
Eur Radiol ; 2024 Aug 29.
Artigo em Inglês | MEDLINE | ID: mdl-39210160

RESUMO

OBJECTIVES: To investigate preoperative MRI evaluation of the features of the mylohyoid muscle (MM) predictive of its infiltration in oral squamous cell carcinoma (OSCC) treatment planning, defining the most appropriate sequences to study its deep extension into the floor of the mouth (FOM). MATERIALS AND METHODS: We applied a 7-point score to retrospectively evaluate preoperative imaging of patients who underwent surgery for OSCC over 11 years. The results were compared with histopathological findings using Spearman's rank coefficient. Receiver operating characteristic curves were employed to assess the score's ability to predict MM infiltration, determining optimal thresholds for sensitivity, specificity, and predictive values. The Mann-Whitney U-test confirmed that infiltration judgments did not overlap around this threshold. Cohen's K statistical coefficient was used to evaluate the interobserver agreement. RESULTS: Fifty-two patients (mean age 66.4 ± 11.9 years, 36 men) were evaluated. Histopathological examination found MM infiltration in 21% of cases (n = 11), with 90% classified in the highest Score categories. A score > 4 proved to be the best cut-off for predicting the risk of MM infiltration, with a sensitivity of 91% (CI: 0.57-0.99), specificity 61% (CI: 0.45-0.76), PPV 38% (CI: 0.21-0.59), and NPV 96% (CI: 0.78-0.99). At the subsequent single-sequence assessment, the TSE-T2wi had the highest diagnostic accuracy, with sensitivity 90% (CI: 0.57-0.99), specificity 70% (CI: 0.53-0.82), PPV 45% (CI: 0.25-0.67), and NPV 96% (CI: 0.80-0.99). CONCLUSION: The 7-point score is a promising predictor of safe surgical margins for MM in OSCC treatment, with the particular benefit of T2-weighted sequences. CLINICAL RELEVANCE STATEMENT: Our scoring system for tumor infiltration of MM, which is easy to use even for less experienced radiologists, allows for uniformity in radiological language, thereby ensuring crucial preoperative information for the surgeon. KEY POINTS: The relationship of the MM to an oral lesion may impact surgical planning. As the score increases, there is a greater incidence of infiltration in the MM. Our score system improves radiologists' reporting for MM involvement by tumor.

5.
Pediatr Dev Pathol ; 27(1): 90-95, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-37818644

RESUMO

EWSR1::CREM gene fusions are increasingly being recognized in a diverse number of soft tissue tumors, including well-defined entities such as angiomatoid fibrous histiocytoma or clear cell sarcoma, and other unclassifiable tumors. As a group, EWSR1::CREM fused tumors often demonstrate primitive spindle or epithelioid cells, myxoid stroma, and a broad immunophenotype. Herein we present an unusual case of a child diagnosed with an intranasal malignant myxoid tumor harboring an EWSR1::CREM gene fusion. To the best of our knowledge, this is the first case of intranasal myxoid tumor with this particular fusion. Diagnosis and management of the case is discussed.


Assuntos
Histiocitoma Fibroso Maligno , Sarcoma de Células Claras , Neoplasias de Tecidos Moles , Criança , Humanos , Histiocitoma Fibroso Maligno/genética , Neoplasias de Tecidos Moles/diagnóstico , Neoplasias de Tecidos Moles/genética , Neoplasias de Tecidos Moles/patologia , Fusão Gênica , Proteínas de Fusão Oncogênica/genética , Biomarcadores Tumorais/genética , Modulador de Elemento de Resposta do AMP Cíclico/genética , Proteína EWS de Ligação a RNA/genética
6.
World J Surg ; 2024 Jun 28.
Artigo em Inglês | MEDLINE | ID: mdl-38942735

RESUMO

BACKGROUND: Percutaneous dilatational tracheostomy (PDT) is the preferred method for managing critically ill patients requiring prolonged mechanical ventilation. We aimed to compare the safety of PDT performed by intensivists versus surgeons. METHODS: This retrospective, single center, cohort study included all the patients who underwent PDT from 2014 to 2023. Propensity score matching was performed to adjust the imbalances of covariates between the groups. The primary outcome was the occurrence of early complications after PDT. Secondary outcomes were the development of late complications of PDT and mortality directly related to tracheostomy. RESULTS: 1685 consecutive patients with critical illness were included in the analysis. Of these, 1396 (82.8%) PDTs were performed by surgeons and 289 (17.2%) by intensivists with background residency training in internal medicine. Early complications were reported in 80 (5.7%) of the patients in the surgeon group and in 13 (4.5%) patients in the intensivist group (p = 0.40). Minor hemorrhage was the most common early complication. Secondary outcomes were comparable in both groups. In a propensity score-matched cohort, the findings remained consistent. CONCLUSIONS: This study suggests that PDT can be performed by intensivists, as well as surgeons, with the same safety profile. Our findings underscore the importance of incorporating PDT into the intensive care unit (ICU) training syllabus, ensuring the procedure is readily accessible with reliance on the expertise of ICU staff.

7.
J Med Genet ; 60(11): 1061-1066, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37164627

RESUMO

BACKGROUND: A 12-nucleotide RIPOR2 in-frame deletion was recently identified as a relatively common and highly penetrant cause of autosomal dominant non-syndromic sensorineural hearing loss, type DFNA21, in the Netherlands. The associated hearing phenotype is variable. The allele frequency (AF) of 0.039% of this variant was determined in a local cohort, and the reported phenotype may be biased because studied families were identified based on index patients with hearing loss (HL). In this study, we determine the AF in a cohort from a different geographical region of the Netherlands. Additionally, we examine the hearing phenotype in individuals with the variant but not selected for HL. METHODS: The AF was determined in participants of the Rotterdam Study (RS), a large cohort study. The phenotype was characterised using individual clinical hearing data, including audiograms. RESULTS: The observed AF in the RS cohort was 0.072% and not statistically significantly different from the previously observed 0.039%. The AF in the two cohorts combined was 0.052%. Consistent with previous findings, we found a highly variable audiometric phenotype with non-penetrance of HL in 40% of subjects aged 55-81, which is higher than the 10% at age 50 previously observed. CONCLUSION: We found an overall higher AF and lower penetrance than previously reported, confirming that DFNA21 is relatively common in the Netherlands. This supports its potential suitability as a target for therapeutic development. Studying possible modifying factors is essential to explain the phenotypical variability and to identify patients eligible for such a therapy.

8.
Am J Emerg Med ; 79: 63-69, 2024 05.
Artigo em Inglês | MEDLINE | ID: mdl-38368849

RESUMO

INTRODUCTION: Acute mastoiditis is a serious condition that carries with it a high rate of morbidity and mortality. OBJECTIVE: This review highlights the pearls and pitfalls of mastoiditis, including the presentation, diagnosis, and management in the emergency department (ED) based on current evidence. DISCUSSION: Acute mastoiditis most commonly affects pediatric patients and is a suppurative infection of the mastoid air cells. It is often associated with otitis media, and common bacteria include Streptococcus and Staphylococcus. History and examination may reveal tympanic membrane erythema, pinna protrusion, postauricular erythema, mastoid tenderness with palpation, external canal swelling, otorrhea, fever, and malaise. The disease should be suspected in those who fail treatment for otitis media and those who demonstrate the aforementioned abnormalities on examination and systemic symptoms. Laboratory analysis may reveal evidence of systemic inflammation, but a normal white blood cell count and other inflammatory markers should not be used to exclude the diagnosis. Computed tomography (CT) of the temporal bones with intravenous contrast is the recommended imaging modality if the clinician is unsure of the diagnosis. CT may also demonstrate complications. Treatment includes antibiotics such as ampicillin-sulbactam or ceftriaxone as well as otolaryngology consultation. Complications may include subperiosteal and intracranial abscess, deep neck abscess, facial nerve palsy, meningitis/encephalitis, venous sinus thrombosis, and seizures. CONCLUSIONS: An understanding of acute mastoiditis can assist emergency clinicians in diagnosing and managing this potentially deadly disease.


Assuntos
Mastoidite , Otite Média , Humanos , Criança , Mastoidite/diagnóstico , Mastoidite/epidemiologia , Mastoidite/terapia , Abscesso/complicações , Prevalência , Otite Média/complicações , Doença Aguda , Eritema
9.
Am J Emerg Med ; 83: 47-53, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38959601

RESUMO

INTRODUCTION: Cavernous sinus thrombosis (CST) is a serious condition that carries with it a high rate of morbidity and mortality. OBJECTIVE: This review highlights the pearls and pitfalls of CST, including presentation, diagnosis, and management in the emergency department (ED) based on current evidence. DISCUSSION: CST is a potentially deadly thrombophlebitic disease involving the cavernous sinuses. The most common underlying etiology is sinusitis or other facial infection several days prior to development of CST, though other causes include maxillofacial trauma or surgery, thrombophilia, dehydration, or medications. Staphylococcus aureus, streptococcal species, oral anaerobic species, and gram-negative bacilli are the most frequent bacterial etiologies. The most prevalent presenting signs and symptoms are fever, headache, and ocular manifestations (chemosis, periorbital edema, ptosis, ophthalmoplegia, vision changes). Cranial nerve (CN) VI is the most commonly affected CN, resulting in lateral rectus palsy. Other CNs that may be affected include III, IV, and V. The disease may also affect the pulmonary and central nervous systems. Laboratory testing typically reveals elevated inflammatory markers, and blood cultures are positive in up to 70% of cases. Computed tomography of the head and orbits with intravenous contrast delayed phase imaging is recommended in the ED setting, though magnetic resonance venography demonstrates the highest sensitivity. Management includes resuscitation, antibiotics, and anticoagulation with specialist consultation. CONCLUSION: An understanding of CST can assist emergency clinicians in diagnosing and managing this potentially deadly disease.


Assuntos
Trombose do Corpo Cavernoso , Humanos , Trombose do Corpo Cavernoso/diagnóstico , Trombose do Corpo Cavernoso/terapia , Trombose do Corpo Cavernoso/etiologia , Serviço Hospitalar de Emergência , Tomografia Computadorizada por Raios X , Prevalência , Anticoagulantes/uso terapêutico , Antibacterianos/uso terapêutico
10.
BMC Pediatr ; 24(1): 246, 2024 Apr 06.
Artigo em Inglês | MEDLINE | ID: mdl-38582899

RESUMO

BACKGROUND: Button battery (BB) ingestions (BBI) are increasingly prevalent in children and constitute a significant, potentially life-threatening health hazard, and thus a pediatric emergency. Ingested BBs are usually charged and can cause severe symptom within 2 h. Discharged BBs ingestion is very rare and protracted symptom trajectories complicate diagnosis. Timely imaging is all the more important. Discharged BBs pose specific hazards, such as impaction, and necessitate additional interventions. CASE PRESENTATION: We present the case of a previously healthy 19-month-old girl who was admitted to our pediatric university clinic in Germany for assessment of a three-month history of intermittent, mainly inspiratory stridor, snoring and feeding problems (swallowing, crying at the sight of food). The child's physical examination and vital signs were normal. Common infectious causes, such as bronchitis, were ruled out by normal lab results including normal infection parameters, negative serology for common respiratory viruses, and normal blood gas analysis, the absence of fever or pathological auscultation findings. The patient's history contained no evidence of an ingestion or aspiration event, no other red flags (e.g., traveling, contact to TBC). Considering this and with bronchoscopy being the gold standard for foreign body (FB) detection, an x-ray was initially deferred. A diagnostic bronchoscopy, performed to check for airway pathologies, revealed normal mucosal and anatomic findings, but a non-pulsatile bulge in the trachea. Subsequent esophagoscopy showed an undefined FB, lodged in the upper third of the otherwise intact esophagus. The FB was identified as a BB by a chest X-ray. Retrieval of the battery proved extremely difficult due to its wedged position and prolonged ingestion and required a two-stage procedure with consultation of Ear Nose Throat colleagues. Recurring stenosis and regurgitation required one-time esophageal bougienage during follow-up examinations. Since then, the child has been asymptomatic in the biannual endoscopic controls and is thriving satisfactorily. CONCLUSION: This case describes the rare and unusual case of a long-term ingested, discharged BB. It underscores the need for heightened vigilance among healthcare providers regarding the potential hazards posed by discharged BBIs in otherwise healthy children with newly, unexplained stridor and feeding problems. This case emphasizes the critical role of early diagnostic imaging and interdisciplinary interventions in ensuring timely management and preventing long-term complications associated even to discharged BBs.


Assuntos
Corpos Estranhos , Feminino , Humanos , Lactente , Ingestão de Alimentos , Esofagoscopia , Esôfago , Corpos Estranhos/complicações , Corpos Estranhos/diagnóstico por imagem , Sons Respiratórios/etiologia
11.
Paediatr Anaesth ; 34(3): 267-273, 2024 03.
Artigo em Inglês | MEDLINE | ID: mdl-38069629

RESUMO

INTRODUCTION: Micrognathic neonates are at risk for upper airway obstruction, and many require intubation in the delivery room. Ex-utero intrapartum treatment is one technique for managing airway obstruction but poses substantial maternal risks. Procedure requiring a second team in the operating room is an alternative approach to secure the obstructed airway while minimizing maternal risk. The aim of this study was to describe the patient characteristics, airway management, and outcomes for micrognathic neonates and their mothers undergoing a procedure requiring a second team in the operating room at a single quaternary care children's hospital. METHODS: This was a retrospective descriptive study. Subjects had prenatally diagnosed micrognathia and underwent procedure requiring a second team in the operating room between 2009 and 2021. Collected data included infant characteristics, delivery room airway management, critical events, and medications. Follow-up data included genetic testing and subsequent procedures within 90 days. Maternal data included type of anesthetic, blood loss, and incidence of transfusion. RESULTS: Fourteen deliveries were performed via procedure requiring a second team in the operating room during the study period. 85.7% were male, and 50% had a genetic syndrome. Spontaneous respiratory efforts were observed in 93%. Twelve patients (85.7%) required an endotracheal tube or tracheostomy. Management approaches varied. Medications were primarily a combination of atropine, ketamine, and dexmedetomidine. Oxygen desaturation was common, and three patients experienced bradycardia. There were no periprocedural deaths. Follow-up at 90 days revealed that 78% of patients underwent at least one additional procedure, and one patient died due to an unrelated cause. All mothers underwent cesarean deliveries under neuraxial anesthesia. Median blood loss was 700 mL [IQR 700 mL, 800 mL]. Only one mother required a blood transfusion for pre-procedural placental abruption. DISCUSSION: Procedure requiring a second team in the operating room is a safe and effective approach to manage airway obstruction in micrognathic neonates while minimizing maternal morbidity. CONCLUSIONS: Though shown to be safe and effective, more data are needed to support the use of procedure requiring a second team in the operating room as an alternative to ex-utero intrapartum treatment for micrognathia outside of highly specialized maternal-fetal centers.


Assuntos
Obstrução das Vias Respiratórias , Micrognatismo , Recém-Nascido , Lactente , Criança , Humanos , Masculino , Feminino , Gravidez , Micrognatismo/complicações , Estudos Retrospectivos , Placenta , Manuseio das Vias Aéreas/métodos , Obstrução das Vias Respiratórias/terapia
12.
Paediatr Anaesth ; 2024 Aug 30.
Artigo em Inglês | MEDLINE | ID: mdl-39212292

RESUMO

INTRODUCTION: This quality improvement initiative is a continued pursuit to optimize outcomes by iteratively improving our opioid sparing anesthesia protocol for tonsillectomy with or without adenoidectomy at our pediatric ambulatory surgical center through data driven Plan-Do-Study-Act cycles. METHODS: From 1/2015 through 12/2023, our standardized tonsillectomy protocol underwent nine procedure-specific perioperative Plan-Do-Study-Act cycles, three procedure-specific postoperative prescription Plan-Do-Study-Act cycles, and four general ambulatory surgical center enhanced recovery Plan-Do-Study-Act cycles. We analyzed data from the medical record using statistical process control charts. The primary outcome measure was the percent of patients requiring intravenous opioid in the post anesthesia care unit. Secondary outcomes included maximum post anesthesia care unit pain score, the percent of patients requiring treatment for nausea and/or vomiting in the post anesthesia care unit, and the number of postoperative opioid prescription dosages. Balancing measures were average post anesthesia care unit length of stay, percent of patients with prolonged Post Anesthesia Care Unit length of stay (>120 min), and 30-day reoperation rate. RESULTS: A total of 5654 tonsillectomy with or without adenoidectomy cases were performed at our ambulatory surgical center from 2015 to 2023. The incidence of intravenous opioid administered in the post anesthesia care unit initially rose with opioid free anesthesia launch, but subsequently decreased below the target of 10%. Maximum post anesthesia care unit pain scores rose from mean 3.6 to 4.5, but subsequently returned to the baseline of 3.5, while the incidence of postoperative nausea and/or vomiting improved. The average post anesthesia care unit length of stay increased by 10 min with opioid free anesthesia; however, prolonged post anesthesia care unit stay and 30-day reoperation rates were unchanged. CONCLUSIONS: The continued refinement of our opioid sparing anesthesia protocol has led to reduced perioperative and home opioid use, stable maximum post anesthesia care unit pain scores, and improved postoperative nausea and vomiting rates, with only a slight increase in mean post anesthesia care unit length of stay.

13.
Acta Neurochir (Wien) ; 166(1): 165, 2024 Apr 03.
Artigo em Inglês | MEDLINE | ID: mdl-38565732

RESUMO

PURPOSE: There is no guidance surrounding postoperative venous thromboembolism (VTE) prophylaxis using pharmacological agents (chemoprophylaxis) in patients undergoing skull base surgery. The aim of this study was to compare VTE and intracranial haematoma rates after skull base surgery in patients treated with/without chemoprophylaxis. METHODS: Review of prospective quaternary centre database including adults undergoing first-time skull base surgery (2009-2020). VTE was defined as deep vein thrombosis (DVT) and pulmonary embolism (PE) within 6 months of surgery. Multivariate logistic regression was used to determine factors predictive of postoperative intracranial haematoma/VTE. Propensity score matching (PSM) was used in group comparisons. RESULTS: One thousand five hundred fifty-one patients were included with a median age of 52 years (range 16-89 years) and female predominance (62%). Postoperative chemoprophylaxis was used in 81% of patients at a median of 1 day postoperatively. There were 12 VTE events (1.2%), and the use of chemoprophylaxis did not negate the risk of VTE entirely (p > 0.99) and was highest on/after postoperative day 6 (9/12 VTE events). There were 18 intracranial haematomas (0.8%), and after PSM, chemoprophylaxis did not significantly increase the risk of an intracranial haematoma (p > 0.99). Patients administered chemoprophylaxis from postoperative days 1 and 2 had similar rates of intracranial haematomas (p = 0.60) and VTE (p = 0.60), affirmed in PSM. CONCLUSION: Postoperative chemoprophylaxis represents a relatively safe strategy in patients undergoing skull base surgery. We advocate a personalised approach to chemoprophylaxis and recommend it on postoperative days 1 or 2 when indicated.


Assuntos
Embolia Pulmonar , Tromboembolia Venosa , Adulto , Humanos , Feminino , Adolescente , Adulto Jovem , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Masculino , Tromboembolia Venosa/prevenção & controle , Tromboembolia Venosa/induzido quimicamente , Tromboembolia Venosa/tratamento farmacológico , Estudos Prospectivos , Complicações Pós-Operatórias/prevenção & controle , Complicações Pós-Operatórias/tratamento farmacológico , Fatores de Risco , Anticoagulantes/uso terapêutico , Hemorragia Cerebral/tratamento farmacológico , Estudos Retrospectivos , Hematoma , Base do Crânio/cirurgia
14.
Am J Otolaryngol ; 45(4): 104303, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38678799

RESUMO

Otolaryngologists can enhance workflow efficiency, provide better patient care, and advance medical research and education by integrating artificial intelligence (AI) into their practices. GPT-4 technology is a revolutionary and contemporary example of AI that may apply to otolaryngology. The knowledge of otolaryngologists should be supplemented, not replaced when using GPT-4 to make critical medical decisions and provide individualized patient care. In our thorough examination, we explore the potential uses of the groundbreaking GPT-4 technology in the field of otolaryngology, covering aspects such as potential outcomes and technical boundaries. Additionally, we delve into the intricate and intellectually challenging dilemmas that emerge when incorporating GPT-4 into otolaryngology, considering the ethical considerations inherent in its implementation. Our stance is that GPT-4 has the potential to be very helpful. Its capabilities, which include aid in clinical decision-making, patient care, and administrative job automation, present exciting possibilities for enhancing patient outcomes, boosting the efficiency of healthcare delivery, and enhancing patient experiences. Even though there are still certain obstacles and limitations, the progress made so far shows that GPT-4 can be a valuable tool for modern medicine. GPT-4 may play a more significant role in clinical practice as technology develops, helping medical professionals deliver high-quality care tailored to every patient's unique needs.


Assuntos
Inteligência Artificial , Otolaringologia , Humanos , Otolaringologia/ética , Inteligência Artificial/ética , Tomada de Decisão Clínica/ética
15.
Am J Otolaryngol ; 45(6): 104502, 2024 Aug 26.
Artigo em Inglês | MEDLINE | ID: mdl-39197330

RESUMO

OBJECTIVE: A publicly available large language learning model platform may help determine current readability levels of otolaryngology patient education materials, as well as translate these materials to the recommended 6th-grade and 8th-grade reading levels. STUDY DESIGN: Cross-sectional analysis. SETTING: Online using large language learning model, ChatGPT. METHODS: The Patient Education pages of the American Laryngological Association (ALA) and American Academy of Otolaryngology-Head and Neck Surgery (AAO-HNS) websites were accessed. Materials were input into ChatGPT (OpenAI, San Francisco, CA; version 3.5) and Microsoft Word (Microsoft, Redmond, WA; version 16.74). Programs calculated Flesch Reading Ease (FRE) scores, with higher scores indicating easier readability, and Flesch-Kincaid (FK) grade levels, estimating U.S. grade level required to understand text. ChatGPT was prompted to "translate to a 5th-grade reading level" and provide new scores. Scores were compared for statistical differences, as well as differences between ChatGPT and Word gradings. RESULTS: Patient education materials were reviewed and 37 ALA and 72 AAO-HNS topics were translated. Overall FRE scores and FK grades demonstrated significant improvements following translation of materials, as scored by ChatGPT (p < 0.001). Word also scored significant improvements in FRE and FK following translation by ChatGPT for AAO-HNS materials overall (p < 0.001) but not for individual topics or for subspecialty-specific categories. Compared with Word, ChatGPT significantly exaggerated the change in FRE grades and FK scores (p < 0.001). CONCLUSION: Otolaryngology patient education materials were found to be written at higher reading levels than recommended. Artificial intelligence may prove to be a useful resource to simplify content to make it more accessible to patients.

16.
Am J Otolaryngol ; 45(5): 104416, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39059171

RESUMO

PURPOSE: To examine the patient experience of laryngopharyngeal reflux diagnosis and factors that contributed to perceived difficulty with the process. MATERIALS AND METHODS: A 32-question anonymous survey was administered to individuals over 18 years old who reported a diagnosis of laryngopharyngeal reflux. The survey contained questions regarding demographics and individuals' experiences during the diagnostic workup along with the generic short patient experiences questionnaire. Percentages were calculated for all variables. Kendall rank correlation coefficient was performed to measure the strength and direction of association between laryngopharyngeal reflux workup and perceived difficulty with diagnosis. RESULTS: Of the 232 respondents, 59.9 % reported difficulty with the diagnostic process. Strong positive correlations were found between perceived difficulty with laryngopharyngeal reflux diagnosis and the following factors: total number of physicians seen (τb = 0.483, p < 0.001), time from symptom onset (τb = 0.300, p < 0.001), and time from first physician visit (τb = 0.479, p < 0.001). Results from the generic short patient experiences questionnaire showed moderate negative correlations between perceived difficulty with diagnosis and the following factors: perceived competence of physician (τb = -0.228, p < 0.001), perception that the physician cared for the patient (τb = -0.253, p < 0.001), perceived interest the physician had in the patient (τb = -0.259, p < 0.001), and time interacting with the physician (τb = -0.226, p < 0.001). CONCLUSIONS: Respondents report difficulty being diagnosed with laryngopharyngeal reflux. This correlates with increased time to receive a diagnosis, increased number of physicians seen, and factors related to the patient-physician relationship. Physicians can improve patient experience by focusing on clear communication with interactive patient appointments, and scheduling high yield diagnostic tests.


Assuntos
Refluxo Laringofaríngeo , Satisfação do Paciente , Humanos , Refluxo Laringofaríngeo/diagnóstico , Feminino , Masculino , Satisfação do Paciente/estatística & dados numéricos , Inquéritos e Questionários , Pessoa de Meia-Idade , Adulto , Idoso , Relações Médico-Paciente , Adulto Jovem , Fatores de Tempo
17.
Am J Otolaryngol ; 45(3): 104220, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38219629

RESUMO

BACKGROUND: As artificial intelligence (AI) is integrating into the healthcare sphere, there is a need to evaluate its effectiveness in the various subspecialties of medicine, including otolaryngology. Our study intends to provide a cursory review of ChatGPT's diagnostic capability, ability to convey pathophysiology in simple terms, accuracy in providing management recommendations, and appropriateness in follow up and post-operative recommendations in common otolaryngologic conditions. METHODS: Adenotonsillectomy (T&A), tympanoplasty (TP), endoscopic sinus surgery (ESS), parotidectomy (PT), and total laryngectomy (TL) were substituted for the word procedure in the following five questions and input into ChatGPT version 3.5: "How do I know if I need (procedure)," "What are treatment alternatives to (procedure)," "What are the risks of (procedure)," "How is a (procedure) performed," and "What is the recovery process for (procedure)?" Two independent study members analyzed the output and discrepancies were reviewed, discussed, and reconciled between study members. RESULTS: In terms of management recommendations, ChatGPT was able to give generalized statements of evaluation, need for intervention, and the basics of the procedure without major aberrant errors or risks of safety. ChatGPT was successful in providing appropriate treatment alternatives in all procedures tested. When queried for methodology, risks, and procedural steps, ChatGPT lacked precision in the description of procedural steps, missed key surgical details, and did not accurately provide all major risks of each procedure. In terms of the recovery process, ChatGPT showed promise in T&A, TP, ESS, and PT but struggled in the complexity of TL, stating the patient could speak immediately after surgery without speech therapy. CONCLUSIONS: ChatGPT accurately demonstrated the need for intervention, management recommendations, and treatment alternatives in common ENT procedures. However, ChatGPT was not able to replace an otolaryngologist's clinical reasoning necessary to discuss procedural methodology, risks, and the recovery process in complex procedures. As AI becomes further integrated into healthcare, there is a need to continue to explore its indications, evaluate its limits, and refine its use to the otolaryngologist's advantage.


Assuntos
Inteligência Artificial , Otolaringologia , Humanos , Otorrinolaringopatias/cirurgia , Otorrinolaringopatias/terapia , Tonsilectomia/métodos , Adenoidectomia/métodos , Endoscopia/métodos , Timpanoplastia/métodos , Laringectomia/métodos
18.
Am J Otolaryngol ; 45(4): 104344, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38701730

RESUMO

PURPOSE: To determine the characteristics of current US Otolaryngology-Head and Neck Surgery (Oto-HNS) residents and their medical school. METHODS: Data were manually collected between Dec 2022 and Jan 2023 for 1649 residents attending 163 US-based ACGME accredited Oto-HNS residency programs, reflecting the 2018-2022 cohort. All data were collected from publicly available sources including residency and medical school program websites, web of science, and professional networking sites (ex: LinkedIn, Doximity). Data were analyzed to determine the "feeder" schools which contributed the greatest number and percent of residents. Using univariable linear regression models, we characterized factors which were associated with feeder school status. RESULTS: Of 1649 residents analyzed, 364 (22 %) matched to their home program and 918 (56 %) stayed in the region of their medical school. The median [IQR] number of published papers and abstracts was 5 [3, 9] with an h-index of 2 [1,4]. Factors associated with producing a greater percent of Oto-HNS residents include presence of an interest group, presence of a home program, USNWR research rank of the medical school, Doximity reputation rank of the home residency program, average pre-residency h-index of the school's graduates, and total NIH research funding (each p < 0.001). CONCLUSIONS: In the changing landscape of residency applications after the USMLE Step 1 exam's transition in January 2022 to pass/fail scoring, it is important to objectively characterize current Oto-HNS residents. Findings from this study will inform prospective residents and residency programs seeking to improve access to Oto-HNS. Future small-scale studies may help further identify driving factors within medical school curricula.


Assuntos
Internato e Residência , Otolaringologia , Faculdades de Medicina , Humanos , Otolaringologia/educação , Estados Unidos , Masculino , Feminino
19.
Am J Otolaryngol ; 45(4): 104287, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38613927

RESUMO

IMPORTANCE: Mobile apps in the field of ORL-HNS, are widely used by patients and physicians, but neither necessarily developed in collaboration with healthcare professionals nor subjected to regulations by the United States Food and Drug Administration guidelines, with a resultant potential of risk for its users. OBJECTIVE: To provide the ORL-HNS physician with an updated list of scientific peer review literature- validated mobile apps for safe use for both the clinician and the patients, for screening, diagnosis, therapy and follow up for various ORL-HNS pathologies. EVIDENCE REVIEW: A comprehensive systematic review of the scientific literature was conducted in "PubMed," "EMBASE," and "Web of Science" without limitation of publication date up to January 1st, 2023. The included papers validated mobile apps in the ORL-HNS discipline. Each study was evaluated using the "Strengthening the Reporting of Observational Studies in Epidemiology" (STROBE) tool. FINDINGS: From the thousands of unregulated ORL-HNS mobile apps available for download and use in the various app stores, only 17 apps were validated for safe use by the clinician and/or patient. Their information is listed. CONCLUSIONS AND RELEVANCE: The limited number of validated mobile apps highlights the importance to use validated apps in clinical practice, to improve evidence-based medicine and patient safety. Physician are encouraged to use and recommend their patients to use validated mobile apps only, like any other tool in clinical practice in the evidence-based era.


Assuntos
Aplicativos Móveis , Otolaringologia , Humanos , Procedimentos Cirúrgicos Otorrinolaringológicos/métodos
20.
Am J Otolaryngol ; 45(4): 104322, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38692073

RESUMO

OBJECTIVE: Pediatric patients and their caregivers may receive information from their primary care physician (PCP) that does not match current American Academy of Otolaryngology (AAO) guidelines. The purpose of this study is to evaluate the frequency of parents deciding to seek a second opinion based on the demographics of pediatric otolaryngologists who deliver guideline supported advice, contrary to advice from their child's PCP. METHODS: A survey was distributed to parents in a pediatric otolaryngology clinic between June 2021 and July 2023. Demographics included parent age category, gender, race, and age of youngest child. The survey included a scenario depicting recurrent otitis media with clear ears and a suggestion to defer tympanostomy tube insertion per AAO guidelines after their child's PCP recommended tubes. Thirteen variations of otolaryngologist photos were used in the case, including a control case with no picture. RESULTS: Of the 658 participants, 460 (69.9 %) were female. 551 (83.7 %) were aged 30-49 years, 70 (10.7 %) were younger, and 37 (5.6 %) were older. 545 (82.8 %) were White, 30 (4.6 %) were Black, 20 (3.0 %) were Asian, and 31 (4.7 %) were Hispanic. 39.9 % of parents would seek a second opinion if an otolaryngologist recommended watchful waiting following evaluation of their child's otitis media. Participants given the control case were 2.23 times more likely to listen to the otolaryngologist's advice (p = .025). If a picture was provided, respondents were more likely to follow advice given if the pictured otolaryngologist was female (p = .025, OR = 1.47) or Asian (p = .042, OR = 1.53). CONCLUSION: In this group, there is evidence that physician race and gender may influence decision making when considering action versus monitoring in the context of recurrent otitis media.


Assuntos
Otorrinolaringologistas , Pais , Encaminhamento e Consulta , Humanos , Feminino , Masculino , Adulto , Pessoa de Meia-Idade , Encaminhamento e Consulta/estatística & dados numéricos , Otorrinolaringologistas/estatística & dados numéricos , Criança , Pais/psicologia , Pré-Escolar , Inquéritos e Questionários , Otite Média , Otolaringologia , Adolescente , Guias de Prática Clínica como Assunto , Lactente
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