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1.
Head Neck ; 45(12): 2981-2989, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37767817

RESUMO

BACKGROUND: In rural states, travel burden for complex cancer care required for head and neck squamous cell carcinoma (HNSCC) may affect patient survival, but its impact is unknown. METHODS: Patients with HPV-negative HNSCC were retrospectively identified from a statewide, population-based study. Euclidian distance from the home address to the treatment center was calculated for radiation therapy, surgery, and chemotherapy. Multivariable Cox proportional hazards models were used to examine the risk of 5-year mortality with increasing travel quartiles. RESULTS: There were 936 patients with HPV-negative HNSCC with a mean age of 60. Patients traveled a median distance of 10.2, 11.1, and 10.9 miles to receive radiation therapy, surgery, and chemotherapy, respectively. Patients in the fourth distance quartile were more likely to live in a rural location (p < 0.001) and receive treatment at an academic hospital (p < 0.001). Adjusted overall survival (OS) improved proportionally to distance traveled, with improved OS remaining significant for patients who traveled the furthest for care (third and fourth quartile by distance). Relative to patients in the first quartile, patients in the fourth had a reduced risk of mortality with radiation (HR 0.59, 95% CI 0.42-0.83; p = 0.002), surgery (HR 0.47, 95% CI 0.30-0.75; p = 0.001), and chemotherapy (HR 0.56, 95% CI 0.35-0.91; p = 0.020). CONCLUSION: For patients in this population-based cohort, those traveling greater distances for treatment of HPV-negative HNSCC had improved OS. This analysis suggests that the benefits of coordinated, multidisciplinary care may outweigh the barriers of travel burden for these patients.


Assuntos
Neoplasias de Cabeça e Pescoço , Infecções por Papillomavirus , Humanos , Pessoa de Meia-Idade , Carcinoma de Células Escamosas de Cabeça e Pescoço/terapia , Estudos Retrospectivos , Infecções por Papillomavirus/complicações , Infecções por Papillomavirus/terapia , Neoplasias de Cabeça e Pescoço/terapia , Modelos de Riscos Proporcionais
2.
Ann Otol Rhinol Laryngol ; 132(12): 1626-1630, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37269075

RESUMO

OBJECTIVE: Effective postoperative tracheostomy management after free flap surgery is critical but can offer challenges including difficulty with humidification delivery and contraindications toward neck instrumentation. The purpose of this project was to establish a multidisciplinary team and implement the AIRVO™ tracheostomy humidification system for those undergoing free flap surgery and determine its effect on respiratory secretions and related events. METHODS: A retrospective cohort study of head and neck free flap surgery patients prior to implementation of AIRVO™ (Jan 2021-May 2021) and after (August 2021-December 2021) were analyzed with a 2 month (June 2021-July 2021) implementation phase. Main variables analyzed included excessive tracheal secretions, necessity of supplemental oxygen above baseline for a day or greater, respiratory rapid response calls, elevation to intensive care units (ICU), and length of hospital stay. RESULTS: A total of 82 patients (40 pre-AIRVO™ and 42 with AIRVO™) met criteria for the study. A significant reduction in excessive tracheal secretions (40% pre-AIRVO™, 11.9% with AIRVO™, P = .01) and necessity of supplemental oxygen above baseline (25% pre-AIRVO™, 7.1% with AIRVO™, P = .04) were observed. No significant difference in hospital length of stay (P = .63) was observed. No respiratory rapid responses or elevation to ICU care were seen in either groups. CONCLUSION: The AIRVO™ system provided an efficient, portable, free of neck instrumentation, and easy to use device that resulted in a reduction in excessive tracheal secretion events and necessity of supplemental oxygenation needs in free flap tracheostomy patients.


Assuntos
Retalhos de Tecido Biológico , Procedimentos de Cirurgia Plástica , Cuidados Pós-Operatórios , Traqueostomia , Humanos , Oxigênio , Complicações Pós-Operatórias/epidemiologia , Estudos Retrospectivos , Cuidados Pós-Operatórios/instrumentação
3.
Laryngoscope ; 131(2): E479-E488, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-32449832

RESUMO

OBJECTIVE: To determine whether the academic affiliation or surgical volume affects the overall survival (OS) of human papillomavirus (HPV)-negative head and neck squamous cell carcinoma (HNSCC) patients receiving surgery. METHODS: A retrospective study of 39 North Carolina Medical Centers was conducted. Treatment centers were classified as academic hospitals, community cancer centers, or community hospitals and were divided into thirds by volume. The primary outcome was 5-year OS. Hazard ratios (HR) were determined using Cox proportional hazard models, adjusting for demographics, tumor site, stage, insurance status, tobacco use, alcohol use, stage, chemotherapy, and radiation therapy. Patients were also stratified by stage (early stage and advanced stage). RESULTS: Patients treated at community cancer centers had significantly better 5-year OS (HR 0.68, 95% confidence interval [CI] = 0.48-0.98), and patients treated at academic hospitals trended toward better 5-year OS (HR 0.72, 95% CI = 0.50-1.04) compared to patients treated at community hospitals. The effect for academic affiliation on survival was more pronounced for patients with advanced stage cancer at diagnosis (HR 0.60, 95% CI = 0.37-0.95). There were no significant survival differences among early stage patients by treatment center type. Top-third (HR = 0.64, 95% CI = 0.42-0.96) centers by surgical volume had significantly better 5-year OS, and middle-third (HR = 0.71, 95% CI = 0.51-1.03) centers by volume trended toward better 5-year OS when compared to the bottom-third centers by volume. CONCLUSION: Patients treated at academic hospitals, community cancer centers, and hospitals in the top third by case volume have favorable survival for HPV-negative HNSCC. The effect for academic hospitals is most pronounced among advanced stage patients. LEVEL OF EVIDENCE: 4 Laryngoscope, 131:E479-E488, 2021.


Assuntos
Competência Clínica/estatística & dados numéricos , Neoplasias de Cabeça e Pescoço/cirurgia , Carcinoma de Células Escamosas de Cabeça e Pescoço/cirurgia , Centros Médicos Acadêmicos/estatística & dados numéricos , Idoso , Competência Clínica/normas , Feminino , Neoplasias de Cabeça e Pescoço/mortalidade , Hospitais Comunitários/estatística & dados numéricos , Humanos , Masculino , Pessoa de Meia-Idade , North Carolina/epidemiologia , Modelos de Riscos Proporcionais , Estudos Retrospectivos , Carcinoma de Células Escamosas de Cabeça e Pescoço/mortalidade , Análise de Sobrevida
4.
Head Neck ; 42(10): 2841-2851, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32618052

RESUMO

BACKGROUND: Decreased access to preventive care services has been proposed as a mechanism for the association between low socioeconomic status (SES) and advanced stage at diagnosis in patients with head and neck squamous cell carcinoma (HNSCC). METHODS: Retrospective analysis of patients diagnosed with HNSCC in North Carolina between 2002 and 2006. RESULTS: A total of 1108 patients with HNSCC were included in the study. In the multivariable analysis, use of annual routine dental services (OR 0.7, 95% CI 0.5-0.9) and colonoscopy in the past 10 years (OR 0.7, 95% CI 0.5-0.9) were associated with lower odds of advanced T stage at diagnosis. Having no insurance (OR 1.8, 95% CI 1.1-2.9), an income <$20 000 (OR 1.6 95% CI 1.03-2.6), and >10 pack-years tobacco use (OR 1.5, 95% CI 1.04-2.2) were associated with advanced T stage at diagnosis. CONCLUSION: Use of preventive care services and SES independently predict stage at diagnosis in HNSCC.


Assuntos
Carcinoma de Células Escamosas , Neoplasias de Cabeça e Pescoço , Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas/epidemiologia , Carcinoma de Células Escamosas/terapia , Neoplasias de Cabeça e Pescoço/diagnóstico , Neoplasias de Cabeça e Pescoço/epidemiologia , Neoplasias de Cabeça e Pescoço/terapia , Humanos , Renda , Estadiamento de Neoplasias , Estudos Retrospectivos , Carcinoma de Células Escamosas de Cabeça e Pescoço
5.
Oral Oncol ; 108: 104800, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32492516

RESUMO

OBJECTIVES: The 8th edition AJCC staging guidelines for head and neck squamous cell carcinoma (HNSCC) recently introduced pathologic staging criteria for nodal disease among p16-positive patients. In this study we evaluate pathologic staging in p16-negative HNSCC. MATERIALS AND METHODS: We compared pathologic staging to the 7th and 8th edition AJCC staging systems using a statewide population-based cohort. All M0 p16-negative surgical patients were included. The outcome was five-year overall survival. RESULTS: Of 304 patients identified, 113 were N0, 157 had 1-4 positive nodes, and 34 had ≥4 nodes. Survival was 71% (95% CI 61-78%) with no nodes, 48% (36%-60%) for 1-4 nodes, and 24% (11 - 39%) for > 4 nodes. When compared to the AJCC systems, the pathologic staging yielded a larger total survival gradient, more montonic survival, better consistency across primary sites, and a slightly lower Bayesian information criterion (1510 vs 1538). After adjusting for disease characteristics, demographics, and tobacco use, hazard ratios for survival were similar using pathologic and AJCC criteria. CONCLUSION: In this cohort, pathological staging was more prognostic than AJCC staging. This is the first study to evaluate pathologic staging in p16-negative cancer; if these findings are verified, a universal nodal staging system could be introduced.


Assuntos
Neoplasias de Cabeça e Pescoço/fisiopatologia , Idoso , Feminino , Humanos , Linfonodos , Metástase Linfática , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias
6.
Ann Otol Rhinol Laryngol ; 129(7): 653-656, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32028786

RESUMO

OBJECTIVES: Congenital midline cervical cleft (CMCC) is a rare congenital anterior neck anatomical anomaly. We present the case of two related patients (grandchild and maternal grandmother) who were both born with a congenital midline cervical cleft along with genetic analysis. METHODS: Clinical examination of both patients and surgical excision of the grandchild was performed. Genetic analysis with exome sequencing (ES) was conducted for both patients. RESULTS: Genetic analysis with exome sequencing (ES) revealed apparently novel single nucleotide variants in 66 genes present in both proband and grandmother. Five of these variants are predicted to cause frameshifting in the coding region of the respective genes and truncated proteins (OVGP1, TYW1B, ZAN, SSPO, FOLR3). Two of these genes (TYW1B and SSPO) have homozygous indel mutations in both patients. CONCLUSIONS: To our knowledge, this is the first case of two related patients with a congenital midline cervical cleft. The results of our genetic analysis reveal potential relevance to CMCC development.


Assuntos
Região Branquial/anormalidades , Proteínas de Transporte/genética , Moléculas de Adesão Celular Neuronais/genética , Anormalidades Craniofaciais/genética , Glicoproteínas/genética , Pescoço/anormalidades , Doenças Faríngeas/genética , Região Branquial/cirurgia , Anormalidades Craniofaciais/cirurgia , Feminino , Mutação da Fase de Leitura , Avós , Humanos , Mutação INDEL , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Oxigenases de Função Mista/genética , Pescoço/cirurgia , Doenças Faríngeas/cirurgia , Polimorfismo de Nucleotídeo Único , Sequenciamento do Exoma
7.
Laryngoscope ; 130(12): 2874-2878, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-31821566

RESUMO

OBJECTIVES/HYPOTHESIS: To evaluate speech perception outcomes and hearing preservation after cochlear implantation in patients with Meniere's disease (MD). STUDY DESIGN: Retrospective chart review. METHODS: Fifty-one adult patients, accounting for a total of 63 implants, with MD treated at a tertiary care center were included in the study. Patients with unaided preoperative air-conduction thresholds ≤80 dB at 250 Hz were included in hearing preservation analyses. The primary outcome measure was Consonant-Nucleus-Consonant (CNC) score. Hearing preservation was assessed as follows: 1) maintenance of functional hearing, defined as a postoperative unaided air-conduction threshold ≤80 dB at 250 Hz and 2) low-frequency pure-tone average (LFPTA) shift. RESULTS: Speech perception scores improved significantly postimplantation; specifically, the CNC mean score was 9% preoperatively and increased to 57% by 1 year postoperatively (P < .001). Eighteen ears were included in hearing preservation analysis; the mean preoperative LFPTA was 65 dB (standard deviation [SD] = 10). The mean postoperative LFPTA at activation was 93 dB (SD = 21), and at 1 year was 102 dB (SD = 11). Twenty-seven percent of patients achieved short-term functional hearing preservation, whereas the longer-term outcomes were less favorable (11%). CONCLUSIONS: Speech perception scores improve after implantation in patients with MD. Hearing preservation is possible in patients with MD, albeit at lower rates than reported non-MD populations. Our data suggest that there can be degradation in acoustic hearing over time. LEVEL OF EVIDENCE: 4 Laryngoscope, 2019.


Assuntos
Implante Coclear , Perda Auditiva Neurossensorial/cirurgia , Doença de Meniere/cirurgia , Audiometria de Tons Puros , Limiar Auditivo , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Percepção da Fala
10.
J Neurophysiol ; 121(6): 2163-2180, 2019 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-30943095

RESUMO

The cochlear summating potential (SP) to a tone is a baseline shift that persists for the duration of the burst. It is often considered the most enigmatic of cochlear potentials because its magnitude and polarity vary across frequency and level and its origins are uncertain. In this study, we used pharmacology to isolate sources of the SP originating from the gerbil cochlea. Animals either had the full complement of outer and inner hair cells (OHCs and IHCs) and an intact auditory nerve or had systemic treatment with furosemide and kanamycin (FK) to remove the outer hair cells. Responses to tone bursts were recorded from the round window before and after the neurotoxin kainic acid (KA) was applied. IHC responses were then isolated from the post-KA responses in FK animals, neural responses were isolated from the subtraction of post-KA from pre-KA responses in NH animals, and OHC responses were isolated by subtraction of post-KA responses in FK animals from post-KA responses in normal hearing (NH) animals. All three sources contributed to the SP; OHCs with a negative polarity and IHCs and the auditory nerve with positive polarity. Thus the recorded SP in NH animals is a sum of contributions from different sources, contributing to the variety of magnitudes and polarities seen across frequency and intensity. When this information was applied to observations of the SP recorded from the round window in human cochlear implant subjects, a strong neural contribution to the SP was confirmed in humans as well as gerbils. NEW & NOTEWORTHY Of the various potentials produced by the cochlea, the summating potential (SP) is typically described as the most enigmatic. Using combinations of ototoxins and neurotoxins, we show contributions to the SP from the auditory nerve and from inner and outer hair cells, which differ in polarity and vary in size across frequency and level. This complexity of sources helps to explain the enigmatic nature of the SP.


Assuntos
Cóclea/fisiologia , Nervo Coclear/fisiologia , Potenciais Evocados Auditivos/fisiologia , Células Ciliadas Auditivas Internas/fisiologia , Células Ciliadas Auditivas Externas/fisiologia , Adulto , Animais , Implantes Cocleares , Gerbillinae , Humanos
11.
Oral Oncol ; 89: 115-120, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30732948

RESUMO

OBJECTIVE: There is considerable variation in the travel required for a patient with head and neck squamous cell carcinoma (HNSCC) to receive a diagnosis. The impact of this travel on the late diagnosis of cancer remains unexamined, even though presenting stage is the strongest predictor of mortality. Our aim is to determine whether travel time affects HNSCC stage at diagnosis independently of other risk factors, and whether this association is affected by socioeconomic status. MATERIALS AND METHODS: Cases were obtained from the CHANCE database, a population-based case-control study in North Carolina (n = 808). The mean age was 59.6 and 72% were male. Stage at diagnosis was categorized as early (T1-T2) or advanced (T3-T4) T stage and the presence or absence of nodal metastasis. Multivariate logistic regression models were used to estimate odds ratios for stage-at-diagnosis based on travel time, after adjustment for variables including demographics, income, insurance status, alcohol, and tobacco use. RESULTS: The adjusted odds ratio (OR) of advanced T-stage at diagnosis was 1.97 for each hour driven (95% CI 1.36-2.87). There was no association with nodal metastases. There was a significant interaction between travel time and income (p = 0.026) with a pattern of higher ORs for increased distance among lower income (<$20,000) patients compared to the ORs for higher income (>$20,000) patients. DISCUSSION: Travel time was an independent contributor to advanced T stage at diagnosis among low income patients. This suggests travel burden may be a barrier to early diagnosis of HNSCC for impoverished patients.


Assuntos
Carcinoma de Células Escamosas de Cabeça e Pescoço/economia , Viagem/tendências , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , North Carolina , Fatores Socioeconômicos
12.
J Craniofac Surg ; 30(2): 514-515, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30676442

RESUMO

BACKGROUND: Dermoid cysts are squamous epithelium-lined sacs that result from abnormal migration of ectodermal cells. They are typically superficial and present in children. This study reviews a rare patient with a congenital dermoid cyst occurring as a superolateral intraorbital and extraconal mas. METHOD: Clinical report and review of the literature. RESULTS: A 27-year-old male presented with progressive left hypoglobus, proptosis, and diplopia. On computed tomography, a 2.0 × 2.1 × 1.1 cm well circumscribed mass centered on, and extended into, the frontozygomatic suture with smooth remodeling of the frontal bone. Magnetic resonance imaging showed heterogeneous T1 and T2 hyperintensity with hypointensity on fat suppression. A dermoid cyst originating from the frontozygomatic suture was suspected. Excision was performed through a left orbitocranial approach with a lateral orbitotomy through an upper eyelid crease incision. The mass occurred in the superior-lateral portion of the left orbit and originated from the intraorbital surface of the zygomaticofrontal suture line with significant bony remodeling without osseous transgression. The mass was removed completely including the lateral portion of the zygomaticofrontal suture. Pathologic examination was consistent with a dermoid cyst. Postoperative examination revealed resolution of his presenting headaches and diplopia. CONCLUSION: Congenital dermoid cysts occurring within the craniofacial region occur most commonly in the lateral orbit involving the superficial surface of the frontozygomatic suture. This patient represents the rare occurrence of a dermoid cyst originating from the deep surface of the frontozygomatic suture, resulting in delayed presentation and orbital symptoms of hypoglobus and diplopia. Definitive treatment remains complete surgical excision.


Assuntos
Suturas Cranianas/patologia , Cisto Dermoide/diagnóstico , Neoplasias Orbitárias/diagnóstico , Adulto , Cisto Dermoide/congênito , Cisto Dermoide/patologia , Cisto Dermoide/cirurgia , Humanos , Masculino , Invasividade Neoplásica , Neoplasias Orbitárias/congênito , Neoplasias Orbitárias/patologia , Neoplasias Orbitárias/cirurgia
13.
Head Neck ; 41(1): 256-261, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30561088

RESUMO

BACKGROUND: This study used a meta-analysis to quantify the degree to which the racial disparity in overall survival for black versus white Americans with oropharyngeal squamous cell carcinoma (OPSCC) persists after adjusting for human papillomavirus (HPV) status. METHODS: PubMed/MEDLINE, Cochrane Database of Systematic Reviews, and CINAHLA were searched through November 2017. The PRISMA statement was followed. The pooled hazard ratio (HR) was calculated using a random-effects model. RESULTS: Five studies met the inclusion criteria and had suitable data for pooling into the meta-analysis (N = 1153). The pooled HR for overall survival in black versus white Americans with OPSCC after adjusting for HPV status was calculated to be 1.45 (95% confidence interval, 0.87-2.40). CONCLUSIONS: The difference in survival for black versus white Americans with OPSCC is not significant after adjusting for HPV status but still trends in the direction of a disparity. Additional studies are needed to better characterize this disparity.


Assuntos
População Negra , Carcinoma de Células Escamosas/mortalidade , Disparidades nos Níveis de Saúde , Neoplasias Orofaríngeas/mortalidade , População Branca , Carcinoma de Células Escamosas/virologia , Humanos , Neoplasias Orofaríngeas/virologia , Papillomaviridae , Análise de Sobrevida
14.
Int. arch. otorhinolaryngol. (Impr.) ; 22(4): 382-386, Oct.-Dec. 2018. tab
Artigo em Inglês | LILACS | ID: biblio-975609

RESUMO

Abstract Introduction Intraoperative parathyroid hormone (ioPTH) testing is a widely accepted standard for assessing the parathyroid gland function. A decline of preoperative parathyroid hormone (PTH) levels by more than 50% is one accepted measure of parathyroid surgery adequacy. However, there may be a variation between preoperative PTH levels obtained at a clinic visit and pre-excisional ioPTH. Objective Our study explores the differences between preoperative PTH and pre-excisional ioPTH levels, and the potential impact this difference has on determining the adequacy of parathyroid surgery. Methods A retrospective study that consisted of 33 patients that had undergone parathyroid resection between September 2009 and March 2016 at a tertiary academic center was performed. Each subject's preoperative PTH levels were obtained from clinic visits and pre-excisional ioPTH levels were recorded along with the time interval between the measurements. Results There was a significant difference between the mean preoperative PTH and the pre-excisional ioPTH levels of 147 pg/mL (95% confidence interval [CI] 11.43 to 284.47; p= 0.0396). The exclusion of four outliers revealed a further significant difference with a mean of 35.09 pg/mL (95% CI 20.27 to 49.92; p< 0.0001). The average time interval between blood draws was 48 days + 32 days. A weak correlation between the change in PTH values and the time interval between preoperative and pre-excision blood draws was noted (r2 = 0.15). Conclusion Our study reveals a significant difference between the preoperative PTH levels obtained at clinic visits and the pre-excisional intraoperative PTH levels. We recommend routine pre-excisional intraoperative PTH levels, despite evidence of elevated preoperative PTH levels, in order to more accurately assess the adequacy of surgical resection.


Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Hormônio Paratireóideo/sangue , Monitorização Intraoperatória , Paratireoidectomia , Neoplasias das Paratireoides/cirurgia , Imunoensaio , Registros Médicos , Estudos Retrospectivos , Período Pré-Operatório , Hiperparatireoidismo/cirurgia , Período Intraoperatório
15.
Int Arch Otorhinolaryngol ; 22(4): 382-386, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30357058

RESUMO

Introduction Intraoperative parathyroid hormone (ioPTH) testing is a widely accepted standard for assessing the parathyroid gland function. A decline of preoperative parathyroid hormone (PTH) levels by more than 50% is one accepted measure of parathyroid surgery adequacy. However, there may be a variation between preoperative PTH levels obtained at a clinic visit and pre-excisional ioPTH. Objective Our study explores the differences between preoperative PTH and pre-excisional ioPTH levels, and the potential impact this difference has on determining the adequacy of parathyroid surgery. Methods A retrospective study that consisted of 33 patients that had undergone parathyroid resection between September 2009 and March 2016 at a tertiary academic center was performed. Each subject's preoperative PTH levels were obtained from clinic visits and pre-excisional ioPTH levels were recorded along with the time interval between the measurements. Results There was a significant difference between the mean preoperative PTH and the pre-excisional ioPTH levels of 147 pg/mL (95% confidence interval [CI] 11.43 to 284.47; p = 0.0396). The exclusion of four outliers revealed a further significant difference with a mean of 35.09 pg/mL (95% CI 20.27 to 49.92; p < 0.0001). The average time interval between blood draws was 48 days + 32 days. A weak correlation between the change in PTH values and the time interval between preoperative and pre-excision blood draws was noted (r2 = 0.15). Conclusion Our study reveals a significant difference between the preoperative PTH levels obtained at clinic visits and the pre-excisional intraoperative PTH levels. We recommend routine pre-excisional intraoperative PTH levels, despite evidence of elevated preoperative PTH levels, in order to more accurately assess the adequacy of surgical resection.

16.
Am J Med Genet A ; 176(9): 2024-2027, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-30240112

RESUMO

Noonan syndrome (NS), the most common of the RASopathies, is a developmental disorder caused by heterozygous germline mutations in genes encoding proteins in the RAS-MAPK signaling pathway. Noonan-like syndrome with loose anagen hair (NSLH, including NSLH1, OMIM #607721 and NSLH2, OMIM #617506) is characterized by typical features of NS with additional findings of macrocephaly, loose anagen hair, growth hormone deficiency in some, and a higher incidence of intellectual disability. All NSLH1 reported cases to date have had an SHOC2 c.4A>G, p.Ser2Gly mutation; NSLH2 cases have been reported with a PPP1CB c.146G>C, p.Pro49Arg mutation, or c.166G>C, p.Ala56Pro mutation. True cleft palate does not appear to have been previously reported in individuals with NS or with NSLH. While some patients with NS have had growth hormone deficiency (GHD), other endocrine abnormalities are only rarely documented. We present a female patient with NSLH1 who was born with a posterior cleft palate, micrognathia, and mild hypotonia. Other findings in her childhood and young adulthood years include hearing loss, strabismus, and hypopituitarism with growth hormone, thyroid stimulating hormone (TSH), and gonadotropin deficiencies. The SHOC2 mutation may be responsible for this patient's additional features of cleft palate and hypopituitarism.


Assuntos
Fissura Palatina/diagnóstico , Fissura Palatina/genética , Estudos de Associação Genética , Hipopituitarismo/diagnóstico , Hipopituitarismo/genética , Síndrome dos Cabelos Anágenos Frouxos/diagnóstico , Síndrome dos Cabelos Anágenos Frouxos/genética , Síndrome de Noonan/diagnóstico , Síndrome de Noonan/genética , Adulto , Facies , Feminino , Estudos de Associação Genética/métodos , Marcadores Genéticos , Humanos , Cariótipo , Fenótipo , Adulto Jovem
17.
Oral Oncol ; 84: 7-11, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-30115478

RESUMO

INTRODUCTION: The incidence of oral tongue squamous cell carcinoma (OTSCC) in younger adults has rapidly increased over the past two decades. While tobacco and alcohol use may be less likely to cause these tumors, it remains controversial whether differences also exist in their prognosis. Our aim is to examine the risk factors for cancer among young (<45 years old) OTSCC patients at our institution, and to compare their recurrence and survival with older patients in a matched cohort. MATERIALS AND METHODS: All OTSCC patients seen at our institution between 2000 and 2015 were reviewed. Patients under 45 who with sufficient treatment information were matched 1:1 on race, T-stage, and N-stage with patients 45 and older. Three-year recurrence and survival were determined in stratified and adjusted Cox regression models. RESULTS: Of 397 OTSCC patients were seen at our institution, 117 (29%) were less than 45 years old. Younger patients were significantly more likely to be female, (50% vs. 39%; p = 0.04) and to abstain from tobacco (51% vs. 39%; p < 0.01). Young patients in the matched cohort were significantly more likely to have a recurrence (HR 3.9 95% CI 1.4-10.5). There was no difference in overall survival. CONCLUSION: Younger OTSCC patients in a matched cohort were more likely to recur within 3 years, although there was no difference in overall mortality. Differences in risk factors and recurrence between older and younger patients suggest that some cancer among younger patients may be distinct from traditional OTSCC.


Assuntos
Carcinoma de Células Escamosas/epidemiologia , Neoplasias da Língua/epidemiologia , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Consumo de Bebidas Alcoólicas/epidemiologia , Carcinoma de Células Escamosas/etiologia , Carcinoma de Células Escamosas/terapia , Intervalo Livre de Doença , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Modelos de Riscos Proporcionais , Estudos Retrospectivos , Fatores de Risco , Análise de Sobrevida , Uso de Tabaco/epidemiologia , Neoplasias da Língua/etiologia , Neoplasias da Língua/terapia
18.
Otolaryngol Head Neck Surg ; 159(6): 973-980, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30012040

RESUMO

OBJECTIVE: Understanding the independent predictors of poor outcomes in free flap surgery is essential for patient selection. We aim to determine the independent predictors of major complications, flap survival, and extended hospital stays. STUDY DESIGN: Retrospective cohort study. SETTING: Tertiary medical center. SUBJECTS AND METHODS: We reviewed medical records from all vascularized tissue transfers in the head and neck between 2007 and 2014 at our institution. We recorded demographics, medical comorbidities, disease characteristics, flap characteristics, and intraoperative events. We defined outcomes as major complications in the 30-day postoperative period, flap death or partial flap survival, and a length of stay ≥14 days. We used bivariate and multivariate methods to test for associations. RESULTS: Of 170 free flap operations, 44% had major complications; 11% fully or partially failed; and 27% required an extended hospital stay. Independent predictors of major complications were age ≥60 years (odds ratio [OR], 3.7; P = .001), revision surgery (OR, 3.5; P = .004), and a prior neck dissection (OR, 3.5; P = .004). Independent predictors of flap failure were revision surgery (OR, 4.1, P = .01) and the use of a plate (OR, 3.7; P = .03). Revision surgery was independently associated with a longer stay (OR, 3.0; P = .01), and the use of a radial forearm flap was associated with a shorter stay (OR, 0.3, P = .047). CONCLUSION: These results underscore that caution is warranted in revision flap surgery, patients with prior neck operations, and patients aged ≥60 years.


Assuntos
Retalhos de Tecido Biológico/efeitos adversos , Complicações Pós-Operatórias/epidemiologia , Adulto , Idoso , Feminino , Sobrevivência de Enxerto , Humanos , Tempo de Internação/estatística & dados numéricos , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Medição de Risco
19.
Head Neck ; 40(8): E82-E86, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-29927014

RESUMO

BACKGROUND: First bite syndrome is a well-recognized complication of parapharyngeal space surgery. There are no reported cases of protracted first bite syndrome and subsequent diagnosis of a primary squamous cell carcinoma (SCC) of the parotid. METHODS: We present the case of a 73-year-old man with no surgical history and 9 years of first bite syndrome who was ultimately diagnosed with a primary SCC of the parotid. Diagnostic workup, including MRI and biopsy, along with oncologic treatment, were performed. RESULTS: Surgical treatment confirmed malignancy and also resulted in complete resolution of the first bite syndrome. CONCLUSION: First bite syndrome without prior surgery may warrant further diagnostic workup with imaging to evaluate for salivary gland pathology. When no radiographic mass lesion is detected but the patient displays protracted symptoms unresponsive to conservative therapy, one should maintain an index of suspicion for malignancy, especially in the presence of symptom escalation.


Assuntos
Carcinoma de Células Escamosas/diagnóstico , Ingestão de Alimentos , Mastigação , Dor/etiologia , Neoplasias Parotídeas/diagnóstico , Idoso , Carcinoma de Células Escamosas/terapia , Nervo Facial/cirurgia , Humanos , Masculino , Esvaziamento Cervical , Glândula Parótida/cirurgia , Neoplasias Parotídeas/terapia , Radioterapia Adjuvante , Síndrome
20.
Oral Dis ; 24(7): 1198-1203, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-29750853

RESUMO

OBJECTIVES: Depth of invasion was added to the eighth edition American Joint Committee on Cancer guidelines for T staging of HPV-negative oral cavity squamous cell carcinoma. Our aim was to determine the impact of depth of invasion on pathological variables and outcomes in low-stage tongue cancer patients. We also examine the impact of tumor thickness and tumor clinical staging for comparison. SUBJECTS AND METHODS: All clinical T1/T2 N0 HPV-negative tongue squamous cell carcinoma patients who received elective neck dissections at our institution between 2000 and 2015 were included. Logistic regression models and Cox proportional hazard models were used to examine pathological variables, recurrence, and 3-year disease-free survival. RESULTS: Sixty-seven patients met criteria; the mean age was 52.0 (SD: 17.7). Depth of invasion was a significant predictor of occult metastasis (OR: 2.0, p = 0.05) and lymphovascular invasion (OR: 4.1, p = 0.02), and tumor thickness was a significant predictor of lymphovascular invasion (OR: 3.3, p = 0.04). None of the variables were predictive of recurrence or disease-free survival. CONCLUSION: Depth of invasion at biopsy may be a potential useful metric to inform on regional management selection in this radiographic node-negative population.


Assuntos
Carcinoma de Células Escamosas/patologia , Carcinoma de Células Escamosas/secundário , Recidiva Local de Neoplasia/patologia , Neoplasias da Língua/patologia , Adulto , Idoso , Vasos Sanguíneos/patologia , Carcinoma de Células Escamosas/cirurgia , Intervalo Livre de Doença , Feminino , Humanos , Vasos Linfáticos/patologia , Masculino , Pessoa de Meia-Idade , Invasividade Neoplásica , Metástase Neoplásica , Estadiamento de Neoplasias , Prognóstico , Neoplasias da Língua/cirurgia , Carga Tumoral
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