Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 740
Filtrar
1.
Facial Plast Surg ; 40(3): 310-313, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38158212

RESUMO

Measuring nasal airflow and nasal breathing has been a major goal of rhinology. Many objective methods for measuring nasal airflow or nasal airway resistance or dimensions provide valuable data but are time-consuming and require expensive equipment and trained technicians, thus making these methods less practical for clinical practice. Peak nasal inspiratory flow (PNIF) measurement is fast, unexpensive, noninvasive, and able to provide an objective evaluation of nasal airflow in real-time. Unilateral PNIF measurements allow separated evaluation of each side of the nasal airway and may prove particularly useful when clinical assessment detects significant asymmetry between both nasal cavities.PNIF measurements are most useful for assessing changes in nasal airflow achieved by any form of therapy, including surgical treatment of the nasal airway. These measurements generally correlate with other objective methods for nasal airway evaluation, but not unequivocally with patient-reported evaluation of nasal breathing. Nevertheless, as low PNIF values prevent the sensation of a suitable nasal breathing, PNIF measurement may also prove useful to optimize the decision of how to best address patients with complaints of nasal airway obstruction.


Assuntos
Obstrução Nasal , Humanos , Obstrução Nasal/fisiopatologia , Obstrução Nasal/cirurgia , Obstrução Nasal/diagnóstico , Resistência das Vias Respiratórias/fisiologia , Rinomanometria/métodos , Cavidade Nasal/fisiopatologia , Cavidade Nasal/fisiologia , Inalação/fisiologia , Respiração , Nariz/anatomia & histologia , Nariz/fisiopatologia , Nariz/fisiologia , Capacidade Inspiratória/fisiologia
4.
Eur Arch Otorhinolaryngol ; 280(5): 2359-2364, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-36854810

RESUMO

PURPOSE: Autosomal dominant polycystic kidney disease (ADPKD) is a renal disease with genetic transmisson. Mutations in the PKD1 and PKD2 genes, which encode integral membrane proteins of the cilia of primary renal tubule epithelial cells, are seen in ADPKD. The aim of this study was to evaluate the sinonasal epithelium, which is epithelium with cilia, by measuring the nasal mucociliary clearance time, and to investigate the effect of ADPKD on nasal mucociliary clearance. METHODS: The study included 34 patients, selected from patients followed up in the Nephrology Clinic, and 34 age and gender-matched control group subjects. The nasal mucociliary clearance time (NMCT) was measured with the saccharin test. RESULTS: The mean age of the study subjects was 47.15 ± 14.16 years in the patient group and 47.65 ± 13.85 years in the control group. The eGFR rate was determined as mean 72.06 ± 34.26 mL/min in the patient group and 99.79 ± 17.22 mL/min in the control group (p < 0.001). The NMCT was determined to be statistically significantly longer in the patient group (903.6 ± 487.8 s) than in the control group (580 ± 259 s) (p = 0.006). CONCLUSIONS: The study results showed that the NMCT was statistically significantly longer in patients with ADPKD compared to the control group, but in the linear regression analysis results, no correlation was determined between eGFR and NMCT.


Assuntos
Depuração Mucociliar , Nariz , Rim Policístico Autossômico Dominante , Adulto , Humanos , Pessoa de Meia-Idade , Depuração Mucociliar/fisiologia , Mutação , Rim Policístico Autossômico Dominante/complicações , Rim Policístico Autossômico Dominante/genética , Rim Policístico Autossômico Dominante/fisiopatologia , Sacarina , Canais de Cátion TRPP/genética , Proteínas de Membrana/genética , Seios Paranasais/fisiopatologia , Mucosa Nasal/fisiopatologia , Nariz/fisiopatologia
5.
Sci Rep ; 11(1): 23527, 2021 12 07.
Artigo em Inglês | MEDLINE | ID: mdl-34876630

RESUMO

Nasal continuous positive airway pressure (nCPAP) is the standard non-invasive respiratory support for newborns with respiratory distress. Nasal injury is a common problem with the interfaces used. To compare the incidence and severity of nasal injury in neonates with respiratory distress and supported on nCPAP with Hudson prong or RAM cannula with Cannulaide, a semipermeable membrane. This is an open-label, parallel-arm, gestational age-stratified, bi-centric, randomized control trial including neonates between 28 and 34 weeks gestational age and birth weight > 1000 g needing nCPAP. The size of the interface was chosen as per the manufacturer's recommendation. Of the 229 neonates enrolled, 112 were randomized to RAM cannula with Cannulaide and 117 to Hudson prong. The baseline characteristics were similar. Any nasal injury at CPAP removal was significantly lower in the RAM cannula with Cannulaide group [6 (5.4%) vs. 31 (26.4%); risk ratio-0.77 (95% CI 0.69-0.87); p = 0.0001]. The incidence of moderate to severe nasal injury, need for mechanical ventilation within 72 h of age, duration of oxygen, and requirement of nCPAP for > 3 days were similar. For preterm infants on nCPAP, RAM cannula with Cannulaide, compared to Hudson prongs, decreases nasal injury without increasing the need for mechanical ventilation.Trail registration: CTRI/2019/03/018333, http://www.ctri.nic.in .


Assuntos
Pressão Positiva Contínua nas Vias Aéreas/instrumentação , Pressão Positiva Contínua nas Vias Aéreas/métodos , Síndrome do Desconforto Respiratório do Recém-Nascido/terapia , Cânula , Feminino , Idade Gestacional , Humanos , Incidência , Recém-Nascido , Recém-Nascido Prematuro , Masculino , Nariz/fisiopatologia , Respiração Artificial/instrumentação , Respiração Artificial/métodos , Desmame do Respirador/métodos
6.
Plast Reconstr Surg ; 148(4): 592e-600e, 2021 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-34550944

RESUMO

BACKGROUND: Nasal obstruction is a common problem, with significant impact on quality of life. Accurate diagnosis may be challenging because of the complex and dynamic nature of the involved anatomy. Computational fluid dynamics modeling has the ability to identify specific anatomical defects, allowing for a targeted surgical approach. The goal of the current study is to better understand nasal obstruction as it pertains to disease-specific quality of life by way of a novel computational fluid dynamics model of nasal airflow. METHODS: Fifty-three patients with nasal obstruction underwent computational fluid dynamics modeling based on computed tomographic imaging. Nasal resistance was compared to demographic data and baseline subjective nasal patency based on Nasal Obstructive Symptom Evaluation scores. RESULTS: Mean Nasal Obstructive Symptom Evaluation score among all patients was 72.6. Nasal Obstructive Symptom Evaluation score demonstrated a significant association with nasal resistance in patients with static obstruction (p = 0.03). There was a positive correlation between Nasal Obstructive Symptom Evaluation score and nasal resistance in patients with static bilateral nasal obstruction (R2 = 0.32) and poor correlation in patients with dynamic bilateral obstruction caused by nasal valve collapse (R2 = 0.02). Patients with moderate and severe bilateral symptoms had significantly higher nasal resistance compared to those with unilateral symptoms (p = 0.048). CONCLUSIONS: Nasal obstruction is a multifactorial condition in most patients. This study shows correlation between simulated nasal resistance and Nasal Obstructive Symptom Evaluation score in a select group of patients. There is currently no standardized diagnostic algorithm or gold standard objective measure of nasal airflow; however, computational fluid dynamics may better inform treatment planning and surgical techniques on an individual basis. CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, V.


Assuntos
Hidrodinâmica , Modelos Biológicos , Obstrução Nasal/diagnóstico , Planejamento de Assistência ao Paciente , Adulto , Estudos de Coortes , Simulação por Computador , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Obstrução Nasal/complicações , Obstrução Nasal/fisiopatologia , Obstrução Nasal/cirurgia , Procedimentos Cirúrgicos Nasais , Nariz/diagnóstico por imagem , Nariz/fisiopatologia , Nariz/cirurgia , Medidas de Resultados Relatados pelo Paciente , Qualidade de Vida , Índice de Gravidade de Doença , Tomografia Computadorizada por Raios X
7.
Am J Otolaryngol ; 42(6): 103165, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34343735

RESUMO

In recent decades, semiconductor lasers have been successfully used in rhinology. However, their usage in the reduction of the nasal swell body (NSB) is barely studied. Our research aimed to conduct an experimental selection of the laser exposure mode in the NSB zone using a 970 nm diode laser for safe and effective NSB reduction. The thermometric parameters of a diode laser with a wavelength of 970 nm were evaluated in a continuous contact mode of exposure at the power from 2 W to 10 W with 2 W step. The laser was targeted at the liver of cattle, given its similar optical properties to the NSB region. After a series of experiments with every power rate and the analysis of temperature data, we estimated an optimal exposure mode at a power of 4 W. The collected thermometric data demonstrate the safety of this mode in a clinical setting for NSB reduction due to causing no thermal damage to the adjacent tissue. Based on the experiment, a technique for laser reduction of the NSB was developed to improve nasal breathing in patients with severe hypertrophy of this area. The proposed technique was applied to 39 patients with chronic vasomotor rhinitis and the NSB. All patients were divided into 2 groups. Group 1 consisted of 20 patients who underwent surface contact laser-turbinectomy and the NSB reduction using a 970 nm diode laser. Group 2 included 19 patients with the same pathology who underwent laser-turbinectomy, without reduction of the NSB. No statistically significant difference was observed during the dynamic observation with an objective assessment of nasal respiration according to active anterior rhinomanometry when comparing these subgroups with each other according to the t-criterion for independent samples (p > 0.05). As a result of comparing the data obtained on the NOSE scale using the Student's t-test, a statistically significant difference is observed (p < 0.001). Thus, patients who did not perform the reduction of the NSB subjectively noted the insufficiency of nasal breathing. This fact indicates that the NSB is involved in the regulation of airflow.


Assuntos
Terapia a Laser/métodos , Lasers Semicondutores/uso terapêutico , Obstrução Nasal/cirurgia , Procedimentos Cirúrgicos Otorrinolaringológicos/métodos , Animais , Bovinos , Feminino , Humanos , Hipertrofia , Lasers Semicondutores/efeitos adversos , Masculino , Obstrução Nasal/patologia , Obstrução Nasal/fisiopatologia , Septo Nasal/patologia , Nariz/fisiopatologia , Dosagem Radioterapêutica , Respiração , Rinite Vasomotora/patologia , Rinite Vasomotora/fisiopatologia , Rinite Vasomotora/cirurgia , Segurança , Temperatura , Resultado do Tratamento
8.
Cell ; 184(14): 3762-3773.e10, 2021 07 08.
Artigo em Inglês | MEDLINE | ID: mdl-34133943

RESUMO

Sneezing is a vital respiratory reflex frequently associated with allergic rhinitis and viral respiratory infections. However, its neural circuit remains largely unknown. A sneeze-evoking region was discovered in both cat and human brainstems, corresponding anatomically to the central recipient zone of nasal sensory neurons. Therefore, we hypothesized that a neuronal population postsynaptic to nasal sensory neurons mediates sneezing in this region. By screening major presynaptic neurotransmitters/neuropeptides released by nasal sensory neurons, we found that neuromedin B (NMB) peptide is essential for signaling sneezing. Ablation of NMB-sensitive postsynaptic neurons in the sneeze-evoking region or deficiency in NMB receptor abolished the sneezing reflex. Remarkably, NMB-sensitive neurons further project to the caudal ventral respiratory group (cVRG). Chemical activation of NMB-sensitive neurons elicits action potentials in cVRG neurons and leads to sneezing behavior. Our study delineates a peptidergic pathway mediating sneezing, providing molecular insights into the sneezing reflex arc.


Assuntos
Tronco Encefálico/fisiopatologia , Neuropeptídeos/metabolismo , Nariz/fisiopatologia , Reflexo/fisiologia , Espirro/fisiologia , Animais , Modelos Animais de Doenças , Hipersensibilidade/fisiopatologia , Masculino , Camundongos Endogâmicos C57BL , Neurocinina B/análogos & derivados , Neurocinina B/metabolismo , Neurônios/metabolismo , RNA Interferente Pequeno/metabolismo , Células Receptoras Sensoriais/fisiologia , Canais de Cátion TRPV/metabolismo , Gravação em Vídeo
9.
Respir Physiol Neurobiol ; 291: 103694, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34020065

RESUMO

This study evaluated the impact of unilateral cleft lip nasal deformity (uCLND) on the ability of the nasal passages to warm and humidify inspired environmental air using computational fluid dynamics (CFD) modeling. Nasal air conditioning was simulated at resting inspiration in ten individuals with uCLND and seven individuals with normal anatomy. The overall heat and water transfer through nasal mucosa was significantly greater (p = 0.02 for both heat and moisture fluxes) on the non-cleft side than on the cleft side. Unilateral median and interquartile range (IQR) for heat flux (W/m2) was 190.3 (IQR 59.9) on the non-cleft side, 160.9 (IQR 105.0) on the cleft side, and 170.7 (IQR 87.8) for normal subjects. For moisture flux (mg/(s·m2), they were 357.4 (IQR 112.9), 298.7 (IQR 200.3) and 320.8 (IQR 173.0), respectively. Significant differences of SAHF50 between cleft side of uCLND and normal existed except for anterior region. Nevertheless, air conditioning ability in subjects with uCLND was generally comparable to that of normal subjects.


Assuntos
Fenda Labial/fisiopatologia , Simulação por Computador , Hidrodinâmica , Doenças Nasais/fisiopatologia , Nariz/anormalidades , Nariz/fisiopatologia , Adulto , Idoso , Fenda Labial/complicações , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Nasais/etiologia
10.
Am J Otolaryngol ; 42(6): 103079, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34020179

RESUMO

OBJECTIVES: Nasal obstruction is common in patients with obstructive sleep apnea (OSA). Nonetheless, the effectiveness of isolated nasal surgery in treatment of OSA remains controversial. This study is to evaluate the subjective and objective outcome after isolated nasal surgery in patients with OSA and to determine the associated factors related to the success rate of isolated nasal surgery. METHODS: The study population consisted of 35 patients with nasal obstruction who had been diagnosed with OSA and were undergoing septoplasty and inferior turbinate reduction to correct nasal pathologies. Preoperative drug-induced sleep endoscopy was performed to evaluate the obstruction site. Patients were assessed before and after nasal surgery using subjective outcomes measures, including the Visual Analog Scale and Epworth Sleepiness Scale, as well as by overnight polysomnography. RESULTS: All patients experienced improved nasal breathing postoperatively. At 6 months postoperatively, patients exhibited significant symptomatic improvement in snoring, sleep apnea, morning headache, tiredness, and daytime sleepiness. Postoperative polysomnography revealed significant improvement in the apnea-hypopnea index, respiratory disturbance index, and percentage of time with oxygen saturation < 90%. Although the overall success rate of nasal surgery alone was 14.3%, the criteria for success were met in 50% of patients with allergic rhinitis. Furthermore, the success rate was significantly higher in patients with moderate to severe nasal obstruction than in patients with mild nasal obstruction. CONCLUSION: Among patients with OSA, those with allergic rhinitis and severe nasal obstruction are likely to have a better surgical outcome following isolated nasal surgery.


Assuntos
Rinite Alérgica , Apneia Obstrutiva do Sono/cirurgia , Adolescente , Adulto , Idoso , Criança , Endoscopia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Septo Nasal/cirurgia , Nariz/fisiopatologia , Gravidade do Paciente , Polissonografia , Estudos Prospectivos , Respiração , Apneia Obstrutiva do Sono/diagnóstico , Apneia Obstrutiva do Sono/fisiopatologia , Resultado do Tratamento , Conchas Nasais/cirurgia , Adulto Jovem
11.
Am J Otolaryngol ; 42(4): 102989, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33676069

RESUMO

BACKGROUND: Olfactory dysfunction, such as hyposmia, is a significant symptom of empty nose syndrome (ENS). The efficacy of surgical intervention in olfaction improvements for ENS has not been investigated extensively. OBJECTIVE: The aim of this study was to evaluate changes in olfaction after surgical treatment for ENS. METHODS: This prospective cohort study at a tertiary medical center enrolled patients with ENS indicated for surgical treatment between June 2015 and June 2019. The Sniffin' Sticks 12-items odor identification test (SS-12) and subjective olfaction rating were completed by patients before and after surgery to assess olfaction. RESULTS: A total of 40 patients completed the survey both before and after surgical treatment. Prior to surgery, 25% of the patients had olfactory dysfunction detected by SS-12, whereas 80% of the patients reported a reduction in olfactory function by subjective rating. The degree of olfactory dysfunction by both assessments significantly improved following surgery. The age was a significant predictor of postoperative improvement. CONCLUSION: Surgical treatment is helpful in improving olfaction in patients with ENS who commonly suffer from olfactory dysfunction. Younger patients may benefit more from surgical intervention in aspect of olfaction.


Assuntos
Anosmia/fisiopatologia , Anosmia/cirurgia , Mucosa Nasal/cirurgia , Procedimentos Cirúrgicos Nasais/métodos , Nariz/fisiopatologia , Olfato , Conchas Nasais/cirurgia , Adulto , Fatores Etários , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Período Pós-Operatório , Estudos Prospectivos , Síndrome , Resultado do Tratamento , Adulto Jovem
14.
Facial Plast Surg Aesthet Med ; 23(3): 191-197, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33577380

RESUMO

Background: Obstructive sleep apnea is common in patients with Crouzon syndrome, yet it may be caused by multiple factors. This study aims to investigate the natural history of airway development in preoperative Crouzon patients, from infants to adults. Methods: Preoperative computed tomography (CT) scans (Crouzon syndrome, n = 73; control, n = 87) were divided into five age subgroups. CT scans were measured using Materialise software. Results: Before 6 months of age, nasal airway volume in patients with Crouzon syndrome was smaller than normal by 37% (p = 0.002), and the cross-sectional area at the choana reduced by 45% (p < 0.001). The reduction of nasal airway volume and cross-sectional area reached their nadir at 2 years of age, with shortening of 44% and 63% (both p < 0.001), respectively. They gradually caught up to normal dimensions after 6 years of age. Between 2 and 6 years, the pharyngeal airway in patients with Crouzon syndrome reduced 44% (p = 0.011) compared with controls. However, the airway cross-sectional area at condylion and gonion levels was less than normal, before 6 months (35%, p = 0.024) and (44%, p = 0.006) after 2 years of age, respectively. This reduction remains into adulthood. Conclusion: Nasal airway volume is more limited in children with Crouzon syndrome who are younger than 2 years of age. Whereas after 2 years of age, the pharyngeal airway develops significant volume restriction, leading to timing and specific treatment area foci based on the site of temporal maximal constriction.


Assuntos
Obstrução das Vias Respiratórias/etiologia , Disostose Craniofacial/fisiopatologia , Nariz/crescimento & desenvolvimento , Faringe/crescimento & desenvolvimento , Adolescente , Adulto , Fatores Etários , Obstrução das Vias Respiratórias/diagnóstico por imagem , Obstrução das Vias Respiratórias/fisiopatologia , Estudos de Casos e Controles , Criança , Pré-Escolar , Disostose Craniofacial/complicações , Disostose Craniofacial/tratamento farmacológico , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Nariz/anormalidades , Nariz/diagnóstico por imagem , Nariz/fisiopatologia , Tamanho do Órgão , Faringe/anormalidades , Faringe/diagnóstico por imagem , Faringe/fisiopatologia , Estudos Retrospectivos , Tomografia Computadorizada por Raios X , Adulto Jovem
15.
Laryngoscope ; 131(2): 260-267, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-32386248

RESUMO

OBJECTIVES: Nasal peak inspiratory flow (NPIF) is a practical and affordable tool that measures maximum inspiratory flow rate through both nostrils. Although NPIF values for healthy controls and patients appear to differ considerably, a generally expected value for populations with and without nasal obstruction has yet to be established. The aim of this systematic review and meta-analysis was to determine the mean NPIF value in populations with and without nasal obstruction. METHODS: Medline (1946-) and Embase (1947-) were searched until July 1, 2017. A search strategy was used to identify studies that reported NPIF values for defined healthy or disease states. All studies providing original data were included. The study population was defined as having either normal nasal breathing or nasal obstruction. A meta-analysis of the mean data was presented in forest plots, and data were presented as mean (95% confidence interval [CI]). RESULTS: The search yielded 1,526 studies, of which 29 were included. The included studies involved 1,634 subjects with normal nasal breathing and 817 subjects with nasal obstruction. The mean NPIF value for populations with normal nasal breathing was 138.4 (95% CI: 127.9-148.8) L/min. The mean value for populations with nasal obstruction was 97.5 (95% CI: 86.1-108.8) L/min. CONCLUSIONS: Current evidence confirms a difference between mean NPIF values of populations with and without nasal obstruction. The mean value of subjects with no nasal obstruction is 138.4 L/min, and the mean value of nasally obstructed populations is 97.5 L/min. Prospective studies adopting a standardized procedure are required to further assess normative NPIF values. Laryngoscope, 131:260-267, 2021.


Assuntos
Inalação/fisiologia , Obstrução Nasal/diagnóstico , Nariz/fisiopatologia , Testes de Função Respiratória/estatística & dados numéricos , Rinomanometria/estatística & dados numéricos , Humanos , Obstrução Nasal/fisiopatologia , Valores de Referência , Testes de Função Respiratória/métodos
16.
Clin Genet ; 98(5): 515-516, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32926405

RESUMO

BNAR syndrome (MIM608980) is a very rare condition: nine cases belonging to three unrelated families were reported since its first description in 2002. The distinctive clinical feature is the bifidity of the tip of the nose and its association with anorectal and/or renal anomalies. Its molecular basis consisting of biallelic FREM1 missense or nonsense mutations was elucidated after studying the original Egyptian family and was confirmed in two families originating from Afghanistan and Pakistan. We describe a fourth family originating from Turkey with signs challenging the diagnostic criteria suggested by the description of the three reported families.


Assuntos
Anormalidades Múltiplas/genética , Hipertelorismo/genética , Doenças Nasais/genética , Nariz/anormalidades , Receptores de Interleucina/genética , Anormalidades Múltiplas/fisiopatologia , Coloboma/genética , Coloboma/fisiopatologia , Egito/epidemiologia , Humanos , Hipertelorismo/fisiopatologia , Masculino , Anormalidades Musculoesqueléticas/genética , Anormalidades Musculoesqueléticas/fisiopatologia , Nariz/fisiopatologia , Doenças Nasais/fisiopatologia , Paquistão/epidemiologia , Fenótipo , Anormalidades do Sistema Respiratório , Turquia/epidemiologia
17.
Am J Otolaryngol ; 41(6): 102739, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32993860

RESUMO

Tinnitus is one of the most represented otological symptom, affecting 15% of adults, worldwide. Literature describes subjective tinnitus when it's perceived by the patient only, and objective tinnitus when it's heard both, by patient and examiner. An objective tinnitus can be caused by a large variety of anomalies and diseases; one of them is Palatal Myoclonus, characterized by rhytmic movements of soft palatal muscles and, only occasionally, involving other near districts. Case presentation. We observed a rare case of essential palatal myoclonus in a 54 y.o. female, suffering from chronic objective bilateral tinnitus, since 35 years, who underwent a wide number of clinical evaluations over the years, without receiving any conclusive diagnosis. In this video, we illustrate all the districts involved in clonic movements: soft palate, larynx and nasal wings. At the same time, we report the spectrographic analysis of tinnitus, recorded in esternal ear canal, taken together with the muscle movements. Palatal Myoclonus has to be considered in the etiological diagnosis of each objective tinnitus and should always be investigated properly.


Assuntos
Laringe/diagnóstico por imagem , Laringe/fisiopatologia , Movimento , Mioclonia/complicações , Mioclonia/diagnóstico por imagem , Nariz/diagnóstico por imagem , Nariz/fisiopatologia , Palato Mole/diagnóstico por imagem , Palato Mole/fisiopatologia , Zumbido/etiologia , Zumbido/fisiopatologia , Gravação em Vídeo , Doença Crônica , Meato Acústico Externo/fisiopatologia , Feminino , Humanos , Pessoa de Meia-Idade , Mioclonia/fisiopatologia , Doenças Raras , Espectrografia do Som
18.
Am J Med Genet A ; 182(10): 2325-2332, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32798292

RESUMO

Aicardi syndrome (AIC) is a rare congenital neurodevelopmental disorder of unknown etiology, that affects almost exclusively females, originally characterized by corpus callosum agenesis, chorioretinal lacunae, and infantile spasms. The current diagnostic criteria also include qualitative facial features (prominent premaxilla, upturned nasal tip, decreased nasal bridge angle, sparse lateral eyebrows, and microphthalmia) that still need quantification. A three-dimensional (3D) photogrammetric assessment of 11 Italian females, age 7-32 years, who satisfied AIC criteria, was performed. Linear distances and angles were computed from soft-tissue facial landmarks coordinates. The z-score values were calculated using data of 850 healthy reference females matched for age and compared by Mann-Whitney test (p < .01). Patients showed a shorter philtrum and right side orbital height (mean z-scores: -1.7, -0.9), shorter superior, middle, and inferior facial depths (mean z-scores: -1.3, -2.2, -2.3), and a smaller length of mandibular ramus (mean z-score: -2.1); conversely, they showed larger nasal and lower facial widths, and lower facial convexity (mean z-scores: 1.7, 1.4, 2.4). The inclinations of the orbit versus the true horizontal were increased bilaterally (mean z-scores: 1.8, 1.1). Some common facial abnormalities were quantified in AIC patients using a noninvasive instrument. They may help clinicians in performing a definite AIC diagnosis in atypical or doubt cases.


Assuntos
Síndrome de Aicardi/diagnóstico , Face/diagnóstico por imagem , Processamento de Imagem Assistida por Computador/métodos , Imageamento Tridimensional , Adolescente , Adulto , Agenesia do Corpo Caloso/diagnóstico , Agenesia do Corpo Caloso/diagnóstico por imagem , Agenesia do Corpo Caloso/fisiopatologia , Síndrome de Aicardi/diagnóstico por imagem , Síndrome de Aicardi/fisiopatologia , Pesos e Medidas Corporais , Criança , Síndrome de Down/diagnóstico por imagem , Síndrome de Down/genética , Síndrome de Down/fisiopatologia , Face/fisiopatologia , Feminino , Humanos , Itália/epidemiologia , Nariz/diagnóstico por imagem , Nariz/fisiopatologia , Adulto Jovem
19.
Otolaryngol Clin North Am ; 53(5): 897-904, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32703695

RESUMO

The diagnosis "sinus headache" has been reclassified as "headache attributed to disorder of the nose or paranasal sinuses" by the International Headache Society, but the term is still commonly used by patients and primary care doctors alike. Rhinologic symptoms and headache disorders are common, and they may coexist without a causative relationship. Patients may undergo unnecessary medical interventions because of inadequate understanding of the classifications and management of various headache disorders. Otolaryngologists frequently treat patients with these complaints, and a systematic approach to the differential diagnosis and utilization of a multidisciplinary approach are critical in providing optimal patient care.


Assuntos
Dor Facial/terapia , Cefaleia/terapia , Nariz/fisiopatologia , Sinusite/terapia , Diagnóstico Diferencial , Endoscopia , Dor Facial/diagnóstico , Cefaleia/classificação , Cefaleia/diagnóstico , Humanos , Otolaringologia , Sinusite/diagnóstico , Tomografia Computadorizada por Raios X , Procedimentos Desnecessários
20.
Int J Pediatr Otorhinolaryngol ; 135: 110083, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32417666

RESUMO

INTRODUCTION: Underdevelopment of the nose is a wide spectrum entity ranges from partial absence of the nose to congenital arrhinia (CA). CA is the congenital absence of the external nose, nasal cavities, and/or nasal nostrils±olfactory apparatus, and is an extremely rare entity as less than 50 cases reported in the literature. CA can be isolated and idiopathic in origin or be a part of genetic-linked certain syndromes. Of note, the isolated CA can be inherited as an autosomal dominant condition with incomplete penetrance. PRESENTATION OF CASE: We report a 13-month-old Palestinian female patient with isolated CA complicated with recurrent lower and upper respiratory tract infections (URTI). The family history is significant for the mother with incomplete and uncomplicated underdevelopment of the external nose and nasal nostrils. The patient uses a tracheostomy to breathe and is waiting for the optimal age for surgical correction. In addition, we reviewed the available literature using PubMed and summarized all CA cases reported from 2016 to 2019 since two studies had presented the literature before 2016, and presented them in a very comprehensive table. DISCUSSION: CA is largely idiopathic and not well understood. Although CA can be inherited and runs in families with incomplete penetrance, no causative genetic abnormalities had been found in most of the reported cases. CA frequently presents with upper airway obstruction and respiratory distress, recurrent lower and URTI, and feeding difficulties. CA is managed initially with tracheostomy and should be followed by a surgical correction at the appropriate age. CONCLUSION: CA may be sporadic, familial, or a part of a syndrome. CA carries a significant rate of morbidity and mortality and a tracheostomy should be inserted initially to alleviate the early CA complications and followed by surgical reconstruction when the patient reaches the age of preschool/school age. More studies are required to determine CA inheritance.


Assuntos
Anormalidades Congênitas/fisiopatologia , Nariz/anormalidades , Síndrome do Desconforto Respiratório do Recém-Nascido/fisiopatologia , Infecções Respiratórias/fisiopatologia , Traqueostomia , Anormalidades Congênitas/patologia , Anormalidades Congênitas/cirurgia , Feminino , Humanos , Lactente , Mães , Nariz/patologia , Nariz/fisiopatologia , Nariz/cirurgia , Doenças Nasais/cirurgia , Procedimentos de Cirurgia Plástica , Recidiva , Síndrome do Desconforto Respiratório do Recém-Nascido/etiologia , Infecções Respiratórias/etiologia
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA