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PURPOSE: Encephalitis secondary to human herpesvirus 6 (HHV-6) infection is frequently encountered in immunocompromised patients; in contrast, HHV-6 encephalitis in immunocompetent patients is rare. There are only 3 reports of status epilepticus due to HHV-6 encephalitis in immunocompetent adults. In the present study, a case of refractory status epilepticus secondary to HHV-6 encephalitis was reported in an immunocompetent female. CASE REPORT: We report a case of a previously healthy 46-year-old female who presented with a one-week history of back pain, fever and generalized tonic-clonic seizures that progressed to status epilepticus. The video electroencephalography showed epileptiform discharges on both frontotemporal regions. Neuroimaging showed hyperintensities on the bilateral insula and temporal lobes. The cerebrospinal fluid showed elevated pressure and was positive for HHV-6. She was given ganciclovir and a total of eleven antiepileptic drugs. Despite these medications, she developed refractory status epilepticus and eventually succumbed due to multiple medical complications. CONCLUSION: This case highlights HHV-6 encephalitis as an important diagnostic consideration in patients presenting with refractory status epilepticus, regardless of immune status.
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Encefalite Viral , Encefalite , Herpesvirus Humano 6 , Estado Epiléptico , Adulto , Feminino , Humanos , Pessoa de Meia-Idade , Anticonvulsivantes/uso terapêutico , Encefalite Viral/complicações , Encefalite Viral/tratamento farmacológico , Estado Epiléptico/tratamento farmacológico , Estado Epiléptico/etiologiaRESUMO
Pressure-flow analysis quantifies the interactions between bolus transport and pressure generation. We undertook a pilot study to assess the interrelationships between pressure-flow metrics and fluoroscopically determined bolus clearance and bolus transport across the esophagogastric junction (EGJ). We hypothesized that findings of abnormal pressure-flow metrics would correlate with impaired bolus clearance and reduced flow across the EGJ. Videofluoroscopic images, impedance, and pressure were recorded simultaneously in nine patients with dysphagia (62-82 years, seven male) tested with liquid barium boluses. A 3.6 mm diameter solid-state catheter with 25 × 1 cm pressure/12 × 2 cm impedance was utilized. Swallowed bolus clearance was assessed using a validated 7-point radiological bolus transport scale. The cumulative period of bolus flow across the EGJ was also fluoroscopically measured (EGJ flow time). Pressure only parameters included the length of breaks in the 20 mmHg iso-contour and the 4 second integrated EGJ relaxation pressure (IRP4s). Pressure-flow metrics were calculated for the distal esophagus, these were: time from nadir impedance to peak pressure (TNadImp to PeakP) to quantify bolus flow timing; pressure flow index (PFI) to integrate bolus pressurization and flow timing; and impedance ratio (IR) to assess bolus clearance. When compared with controls, patients had longer peristaltic breaks, higher IRs, and higher residual EGJ relaxation pressures (break length of 8 [2, 13] vs. 2 [0, 2] cm, P = 0.027; IR 0.5 ± 0.1 vs. 0.3 ± 0.0, P = 0.019; IRP4s 11 ± 2 vs. 6 ± 1 mmHg, P = 0.070). There was a significant positive correlation between higher bolus transport scores and longer peristaltic breaks (Spearman correlation r = 0.895, P < 0.001) and with higher IRs (r = 0.661, P < 0.05). Diminished EGJ flow times correlated with a shorter TNadImp to PeakP (r = -0.733, P < 0.05) and a higher IR (r = -0.750, P < 0.05). Longer peristaltic breaks and higher IR correlate with failed bolus clearance on videofluoroscopy. The metric TNadImp to PeakP appears to be a marker of the period of time over which the bolus flows across the EGJ.
Assuntos
Transtornos de Deglutição/diagnóstico por imagem , Junção Esofagogástrica/diagnóstico por imagem , Esôfago/diagnóstico por imagem , Fluoroscopia/métodos , Peristaltismo/fisiologia , Idoso , Idoso de 80 Anos ou mais , Deglutição/fisiologia , Transtornos de Deglutição/fisiopatologia , Impedância Elétrica , Junção Esofagogástrica/fisiopatologia , Esôfago/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Projetos Piloto , PressãoRESUMO
PRESBYPHAGIA: THE INFLUENCE OF PRIMARY AGING ON SWALLOWING FUNCTION: Elderly often get confronted with swallowing difficulties. It is important to differentiate between presbyphagia, which describes the influence of primary aging on swallow function and dysphagia, which is a pathological swallowing disorder caused by age related diseases and their treatment. In this literature overview the focus is on presbyphagia. The influence of primary aging on the oropharyngeal swallowing function and on other body functions that are indirectly related to swallowing will be discussed. From the literature we learn that in primary aging a number of functions stay preserved, a number of functions deteriorate, and some compensatory mechanisms are evident. The swallow safety as such however, stays preserved. To conclude with we discuss some clinical implications concerning both the detection of swallowing disorders in the elderly and the establishment of preventive action for the healthy elderly.
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AUTOMATED IMPEDANCE MANOMETRY (AIM): OBJECTIVE DIAGNOSIS OF OROPHARYNGEAL DYSPHAGIA: This review article aims to demonstrate the clinical potential of Automated Impedance Manometry (AIM) as a new, non-radiological technique for screening and diagnosis of oro-pharyngeal dysphagia. An integrated - rather than separate - analysis of pressure and impedance patterns generated in the pharynx when swallowing a food bolus, can be a useful complement to the radiological investigations considered as gold standard today. Major advantages are the objective nature of this technique and the fully automated calculation of various swallow parameters. A global measure of swallowing function can be derived (a Swallow Risk Index, SRI) and is related to (the severity of) the risk of aspiration and the presence of pharyngeal post-swallow residue. It was shown that aspiration on videofluoroscopy was accurately detected by using AIM with a sensitivity of 0.88 and a specificity of 0.96. AIM analysis can be performed quickly and is reliable in the hands of different end users. Various parameters are sufficiently sensitive to detect changes in bolus consistency and - as was recently found - are influenced by swallowing manoeuvers. Furthermore, different patterns of deviant swallow parameters can be found in different patient populations. Whether this observation can provide specific diagnoses and - as a consequence - more targeted treatments is currently under investigation.
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Objective and reliable evaluation of upper esophageal sphincter (UES) opening during swallowing based on videofluoroscopy and pharyngeal manometry challenges dysphagia clinicians. The functional lumen imaging probe (FLIP) is a portable tool based on impedance planimetry originally designed to measure esophogastric junction compliance. It is hypothesized that FLIP can evaluate UES distensibility, and can provide UES diameter and pressure measurements at rest, during swallowing, and during voluntary maneuvers. Eleven healthy adult subjects consented to FLIP evaluation. The probe was inserted transorally, and the balloon was positioned across the UES. Two 20-mL ramp distensions were completed. Changes in UES diameter and intraballoon pressure were measured during dry and 5-mL liquid swallows, and during voluntary swallow postures and maneuvers employed in clinical practice. The protocol was completed by 10 of 11 healthy subjects. Mean intraballoon pressure increased throughout 5-mL (5.8 mmHg; -4.5-18.6 mmHg), 10-mL (8.7 mmHg; 2.3-28.5 mmHg), 15-mL (17.3 mmHg; 9.5-34.8 mmHg), and 20-mL (31.2 mmHg; 16-46.3 mmHg) balloon volumes. Mean resting UES diameter (4.9 mm) increased during dry swallows (9.2 mm) and 5-mL liquid swallows (7.7 mm). Mean UES diameter increased during 5-mL liquid swallows with head turn to right (8.1 mm) and left (8.3 mm), chin tuck (8.4 mm), effortful swallow (8.5 mm), Mendelsohn maneuver (8.1 mm), and supraglottic swallow (7.8 mm). FLIP was safely inserted and distended in the UES, and provided useful quantitative data regarding UES distensibility and UES diameter changes during swallowing maneuvers. Further research is being conducted to explore the role of FLIP in UES evaluation.
Assuntos
Deglutição/fisiologia , Técnicas de Diagnóstico do Sistema Digestório/instrumentação , Esfíncter Esofágico Superior/fisiologia , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Pletismografia de Impedância/instrumentação , Pletismografia de Impedância/métodos , PressãoRESUMO
There are limited data concerning the effects of 5-HT(1A) receptor activation on esophageal motility. Sumatriptan, a 5-HT(1A) receptor agonist, was recently reported to enhance esophageal peristalsis after intravenous administration. Buspirone, an orally available 5-HT(1A) receptor agonist, was shown to modulate gastroduodenal motor function. Our aim was to evaluate the effect of buspirone on esophageal motility of healthy volunteers. On two separate visits, 20 healthy volunteers aged 21-29 years (nine women) underwent esophageal manometry before and 10, 30, and 60 minutes after the administration of buspirone 20-mg or placebo capsule, according to a double-blind crossover design. At each time point, we compared buspirone and placebo effects on: resting pressure of the lower esophageal sphincter (LES); residual pressure and duration of LES relaxation; amplitude, duration, and onset velocity of esophageal body contractions, during 10 swallows of 5 mL of water. Significant analysis of variance differences (P < 0.05) are presented as mean ± standard deviation. Buspirone significantly increased mean distal esophageal wave amplitude (151 vs. 87 mmHg, P < 0.05) and duration (6.1 vs. 4.2 seconds, P < 0.05). Similarly, buspirone significantly increased mean LES resting pressure (26 vs. 21 mmHg, P < 0.05) and mean residual LES pressure (7.9 vs. 2 mmHg, P < 0.05), whereas reduced mean LES relaxation duration (7.2 vs. 8.0 seconds, P < 0.05) and mean distal onset velocity (7.6 vs. 14.7 cm/second, P < 0.05). Buspirone enhances esophageal peristalsis and LES function in healthy volunteers. Further study is warranted on the effects of buspirone on esophageal function and symptoms in patients with ineffective esophageal motility.
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Buspirona/farmacologia , Esfíncter Esofágico Inferior/efeitos dos fármacos , Esôfago/efeitos dos fármacos , Motilidade Gastrointestinal/efeitos dos fármacos , Peristaltismo/efeitos dos fármacos , Agonistas do Receptor 5-HT1 de Serotonina/farmacologia , Adulto , Estudos Cross-Over , Método Duplo-Cego , Feminino , Humanos , Masculino , Manometria , Receptor 5-HT1A de Serotonina/fisiologiaRESUMO
Although benign, rolandic epilepsy (RE) or benign childhood epilepsy with centro-temporal spikes is often associated with language impairment. Recently, fronto-rolandic EEG abnormalities have been described in children with developmental dysphasia (DD), suggesting an interaction between language impairment and interictal epileptiform discharges. To investigate if a behavioral-linguistic continuum between RE and DD exists, a clinical prospective study was carried out to evaluate the language profile of 15 children with RE and 22 children with DD. Language skills were assessed using an extensive, standardized test battery. Language was found to be impaired in both study groups, however RE and DD were associated with distinct language impairment profiles. Children with RE had difficulties with sentence comprehension, semantic verbal fluency and auditory short-term memory, which are unrelated to age of epilepsy onset and laterality of epileptic focus. In children with DD, sentence comprehension and verbal fluency were among their relative strengths, whereas sentence and lexical production constituted relative weaknesses.
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Afasia/complicações , Afasia/fisiopatologia , Epilepsia Rolândica/complicações , Epilepsia Rolândica/fisiopatologia , Transtornos da Linguagem/complicações , Transtornos da Linguagem/fisiopatologia , Idioma , Idade de Início , Afasia/diagnóstico , Criança , Pré-Escolar , Compreensão , Eletroencefalografia , Epilepsia Rolândica/diagnóstico , Feminino , Lateralidade Funcional , Humanos , Testes de Linguagem , Linguística , Masculino , Memória de Curto Prazo , Testes Neuropsicológicos , Estudos Prospectivos , SemânticaRESUMO
BACKGROUND: Endogenous opioids (EO) acting on µ-opiod receptors in central and enteric nervous system (ENS) control gastrointestinal motility but it is still unclear whether EO in ENS may control esophageal function in man, thus we will study the effects of methylnaltrexone (MNTX), a peripherally selective, and naloxone (NA), a non-selective µ-opiod receptor antagonist, on esophageal motility in healthy subjects. METHODS: Fifteen HV (6 M; 34.1 ± 0.6 years; BMI: 22.1 ± 0.1 kg/m2 ) underwent three esophageal high-resolution manometry impedance (HRiM) studies with 10 saline swallows administered every 30 minutes: drug was administered after 30 minutes (MNTX subcutaneously/NA or saline intravenously), a solid meal after 90 minutes; measurements continued for 120 minutes postprandially. KEY RESULTS: Methylnaltrexone did not significantly decrease the upper esophageal sphincter (UES) percentage of relaxation preprandially (72.5 ± 5 vs 66.9 ± 4.6 and 73 ± 3.8%, ANOVA between placebo, MNTX and NA, P=NS) and postprandially (60 minutes: 68.2 ± 5.6 vs 61 ± 5.5 and 67.1 ± 5.6%; 120 minutes: 68 ± 5.9 vs 59.3 ± 5.2 and 67.7 ± 4.7%; ANOVA between placebo, MNTX and NA, P=NS). MNTX and NA did not significantly alter preprandial and postprandial LES resting pressures and integrated relaxation pressure (ANOVA between placebo, MNTX and NA, all P=NS). Peak front velocity and distal contractile integral were not altered pre- and postprandially by MNTX and NA (ANOVA between placebo, MNTX and NA, P=NS). Transient lower esophageal sphincter relaxations (TLESRs') number was not altered by MNTX and NA (ANOVA between placebo, MNTX and NA, all P=NS). CONCLUSIONS AND INFERENCES: The peripheral selective and non-selective µ-opioid receptor antagonists MNTX and NA, respectively, do not alter TLESRs occurrence and esophageal peristalsis.
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Esfíncter Esofágico Inferior/efeitos dos fármacos , Esfíncter Esofágico Inferior/fisiologia , Naloxona/farmacologia , Naltrexona/análogos & derivados , Antagonistas de Entorpecentes/farmacologia , Adolescente , Adulto , Estudos Cross-Over , Monitoramento do pH Esofágico/métodos , Feminino , Humanos , Masculino , Naltrexona/farmacologia , Compostos de Amônio Quaternário/farmacologia , Receptores Opioides mu/antagonistas & inibidores , Receptores Opioides mu/fisiologia , Método Simples-Cego , Adulto JovemRESUMO
BACKGROUND: High-resolution impedance manometry (HRIM) allows evaluation of esophageal bolus retention, flow, and pressurization. We aimed to perform a collaborative analysis of HRIM metrics to evaluate patients with non-obstructive dysphagia. METHODS: Fourteen asymptomatic controls (58% female; ages 20-50) and 41 patients (63% female; ages 24-82), 18 evaluated for dysphagia and 23 for reflux (non-dysphagia patients), with esophageal motility diagnoses of normal motility or ineffective esophageal motility, were evaluated with HRIM and a global dysphagia symptom score (Brief Esophageal Dysphagia Questionnaire). HRIM was analyzed to assess Chicago Classification metrics, automated pressure-flow metrics, the esophageal impedance integral (EII) ratio, and the bolus flow time (BFT). KEY RESULTS: Significant symptom-metric correlations were detected only with basal EGJ pressure, EII ratio, and BFT. The EII ratio, BFT, and impedance ratio differed between controls and dysphagia patients, while the EII ratio in the upright position was the only measure that differentiated dysphagia from non-dysphagia patients. CONCLUSIONS & INFERENCES: The EII ratio and BFT appear to offer an improved diagnostic evaluation in patients with non-obstructive dysphagia without a major esophageal motility disorder. Bolus retention as measured with the EII ratio appears to carry the strongest association with dysphagia, and thus may aid in the characterization of symptomatic patients with otherwise normal manometry.
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Transtornos de Deglutição/diagnóstico , Transtornos de Deglutição/fisiopatologia , Impedância Elétrica , Manometria/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Transtornos de Deglutição/classificação , Transtornos da Motilidade Esofágica/classificação , Transtornos da Motilidade Esofágica/diagnóstico , Transtornos da Motilidade Esofágica/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto JovemRESUMO
BACKGROUND: Subtyping achalasia by high-resolution manometry (HRM) is clinically relevant as response to therapy and prognosis have shown to vary accordingly. The aim of this study was to assess inter- and intrarater reliability of diagnosing achalasia and achalasia subtyping in children using the Chicago Classification (CC) V3.0. METHODS: Six observers analyzed 40 pediatric HRM recordings (22 achalasia and 18 non-achalasia) twice by using dedicated analysis software (ManoView 3.0, Given Imaging, Los Angeles, CA, USA). Integrated relaxation pressure (IRP4s), distal contractile integral (DCI), intrabolus pressurization pattern (IBP), and distal latency (DL) were extracted and analyzed hierarchically. Cohen's κ (2 raters) and Fleiss' κ (>2 raters) and the intraclass correlation coefficient (ICC) were used for categorical and ordinal data, respectively. RESULTS: Based on the results of dedicated analysis software only, intra- and interrater reliability was excellent and moderate (κ=0.89 and κ=0.52, respectively) for differentiating achalasia from non-achalasia. For subtyping achalasia, reliability decreased to substantial and fair (κ=0.72 and κ=0.28, respectively). When observers were allowed to change the software-driven diagnosis according to their own interpretation of the manometric patterns, intra- and interrater reliability increased for diagnosing achalasia (κ=0.98 and κ=0.92, respectively) and for subtyping achalasia (κ=0.79 and κ=0.58, respectively). CONCLUSIONS: Intra- and interrater agreement for diagnosing achalasia when using HRM and the CC was very good to excellent when results of automated analysis software were interpreted by experienced observers. More variability was seen when relying solely on the software-driven diagnosis and for subtyping achalasia. Therefore, diagnosing and subtyping achalasia should be performed in pediatric motility centers with significant expertise.
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Acalasia Esofágica/classificação , Acalasia Esofágica/diagnóstico por imagem , Manometria , Adolescente , Criança , Diagnóstico por Computador , Feminino , Humanos , Masculino , Variações Dependentes do Observador , Reprodutibilidade dos TestesRESUMO
Microvascular free flaps are considered to be the gold standard in reconstructive head and neck surgery. However, reduced postoperative transplant perfusion is one of the serious postoperative complications and calls for close and reliable monitoring. Procalcitonin, C-reactive protein, and leukocytes are closely associated with local and systemic inflammatory reactions and might have prognostic capacity concerning tissue necrosis. This study aimed to evaluate perioperative serum levels of these three biomarkers to assess their potential in postoperative flap monitoring. A total of 100 patients with microvascular head and neck reconstructions were included in the study. Perioperative serum levels of parameters were measured and the clinical data were analyzed and correlated. A total of 13% of all flaps developed reduced postoperative perfusion. Analysis of the parameters revealed statistically significant differences in the overall patient collective over time, irrespective of clinically reduced flap perfusion. Co-factors such as sex and history of tobacco and alcohol abuse showed significant differences. The efficacy of the parameters in free flap monitoring has not been verified, although the role of procalcitonin in postoperative monitoring, with special regard to the early detection of infections, is underlined by the present study results.
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Proteína C-Reativa/metabolismo , Calcitonina/sangue , Retalhos de Tecido Biológico/irrigação sanguínea , Neoplasias de Cabeça e Pescoço/cirurgia , Contagem de Leucócitos , Procedimentos de Cirurgia Plástica/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores/sangue , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , PrognósticoRESUMO
OBJECTIVE: The aim of this pilot study is to demonstrate the technical and clinical feasibility of videomanometry to assess swallowing in infants and young children presenting with dysphagia. METHODS: We performed videomanometry using a combined solid state catheter and a perfused manometric sleeve assembly in eight patients (2-28 months) presenting at a tertiary care institution with symptoms of dysphagia. Solid state sensors were positioned at the inferior margin of the valleculae and the laryngeal entrance and the upper esophageal sphincter sleeve assembly was positioned across the upper esophageal sphincter. Manometric and radiological data were digitally recorded simultaneously using a manofluoromixer. Liquid bolus swallows were recorded in each patient and different geometric parameters of deglutition were measured. RESULTS: Placement and fixation of the catheter was well tolerated and no adverse effects occurred. The children easily swallowed test boluses as selected during clinical examination. Results indicate that pharyngeal contractility can be evaluated as well as relaxation of the upper esophageal sphincter during swallowing of wet boluses. CONCLUSIONS: Videomanometry in young children is feasible with the limited discomfort of the placement of the catheter. It is a promising technique that will allow more accurate assessment of pediatric oropharyngeal dysphagia.
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Transtornos de Deglutição/diagnóstico , Manometria , Gravação em Vídeo , Pré-Escolar , Meios de Contraste , Esôfago/diagnóstico por imagem , Estudos de Viabilidade , Humanos , Processamento de Imagem Assistida por Computador , Lactente , Projetos Piloto , RadiografiaRESUMO
BACKGROUND: Pharyngeal pressure-flow analysis (PFA) of high resolution impedance-manometry (HRIM) with calculation of the swallow risk index (SRI) can quantify swallow dysfunction predisposing to aspiration. We explored the potential use of artificial neural networks (ANN) to model the relationship between PFA swallow metrics and aspiration and to predict swallow dysfunction. METHODS: Two hundred consecutive dysphagia patients referred for videofluoroscopy and HRIM were assessed. Presence of aspiration was scored and PFA software derived 13 metrics and the SRI. An ANN was created and optimized over training cycles to achieve optimal classification accuracy for matching inputs (PFA metrics) to output (presence of aspiration on videofluoroscopy). Application of the ANN returned a value between 0.00 and 1.00 reflecting the degree of swallow dysfunction. KEY RESULTS: Twenty one patients were excluded due to insufficient number of swallows (<4). Of 179, 58 aspirated and 27 had aspiration pneumonia history. The SRI was higher in aspirators (aspiration 24 [9, 41] vs no aspiration 7 [2, 18], p < 0.001) and patients with pneumonia (pneumonia 27 [5, 42] vs no pneumonia 8 [3, 24], p < 0.05). The ANN Predicted Risk was higher in aspirators (aspiration 0.57 [0.38, 0.82] vs no aspiration 0.13 [0.4, 0.25], p < 0.001) and in patients with pneumonia (pneumonia 0.46 [0.18, 0.60] vs no pneumonia 0.18 [0.6, 0.49], p < 0.01). Prognostic value of the ANN was superior to the SRI. CONCLUSIONS & INFERENCES: In a heterogeneous cohort of dysphagia patients, PFA with ANN modeling offers enhanced detection of clinically significant swallowing dysfunction, probably more accurately reflecting the complex interplay of swallow characteristics that causes aspiration.
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Transtornos de Deglutição , Redes Neurais de Computação , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Simulação por Computador , Estudos Transversais , Transtornos de Deglutição/diagnóstico , Transtornos de Deglutição/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Faringe/fisiopatologia , Adulto JovemRESUMO
BACKGROUND: Pharyngeal automated impedance manometry (AIM) analysis is a novel non-radiological method to analyze swallowing function based on impedance-pressure recordings. In dysphagic head and neck cancer patients, we evaluated the reliability and validity of the AIM-derived swallow risk index (SRI) and a novel measure of postswallow residue (iZn/Z) by comparing it against videofluoroscopy as the gold standard. METHODS: Three blinded experts classified 88 videofluoroscopic swallows from 16 patients for aspiration and degree of postswallow residue. Pressure-impedance recordings of the patient and age-matched control swallows were analyzed using AIM by three observers who derived the SRI and iZn/Z. Intra-class correlation coefficients (ICC) were calculated for videofluoroscopic and AIM measures. Patient pressure/impedance measurements were compared with videofluoroscopy scores and control subjects to determine validity for detecting clinically relevant swallowing dysfunction. KEY RESULTS: Agreement among observers assessing presence of penetration and aspiration was modest (ICC 0.57) for videofluoroscopy and good (ICC 0.71, 0.82) for AIM-derived SRI and iZn/Z. When compared with age-matched controls, the SRI was higher in patients with aspiration (mean diff. 28.6, 95% CI [55.85, 1.355], p < 0.05). The iZn/Z had moderate positive correlation with bolus residue on fluoroscopy (BRS score) (rs (86) = 0.4120, p < 0.0001) and was increased in both patients with aspiration (∆244 [419.7, 69.52; p < 0.05]) and penetration (∆240 [394.3, 85.77]; p < 0.05) compared to controls. CONCLUSIONS & INFERENCES: AIM-based measures of swallowing function have better inter-rater reliability than comparable fluoroscopically derived measures. These measures are easily determined and objective markers of clinically relevant features of disordered swallowing following radiotherapy.
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Transtornos de Deglutição/diagnóstico , Fluoroscopia/métodos , Neoplasias de Cabeça e Pescoço/complicações , Manometria/métodos , Idoso , Idoso de 80 Anos ou mais , Transtornos de Deglutição/etiologia , Impedância Elétrica , Feminino , Neoplasias de Cabeça e Pescoço/radioterapia , Humanos , Masculino , Pessoa de Meia-Idade , Variações Dependentes do Observador , Reprodutibilidade dos TestesRESUMO
The velo-cardio-facial syndrome (VCFS), due to a deletion in chromosome 22 on its long arm (22q11), is a leading cause of velopharyngeal dysfunction and cleft palate. With the recent finding of a deletion on chromosome 22q11 in these patients with velopharyngeal dysfunction, a routine test is available making the diagnosis of VCFS much more frequent than previously thought.
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Deleção Cromossômica , Cromossomos Humanos Par 22 , Fissura Palatina/genética , Insuficiência Velofaríngea/genética , Criança , Síndrome de DiGeorge/genética , Feminino , Perda Auditiva Condutiva/genética , Humanos , Hibridização in Situ Fluorescente , Masculino , SíndromeRESUMO
We report data on feeding and speech disorders in 50 patients with velocardiofacial syndrome. In order to contribute to delineation of type and etiology of feeding and speech problems, we compared the clinical findings in these patients with the reports in literature.
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Deleção Cromossômica , Cromossomos Humanos Par 22 , Síndrome de DiGeorge/genética , Transtornos da Alimentação e da Ingestão de Alimentos/genética , Cardiopatias Congênitas/genética , Distúrbios da Fala/genética , Insuficiência Velofaríngea/genética , Adolescente , Adulto , Criança , Pré-Escolar , Síndrome de DiGeorge/diagnóstico , Fácies , Transtornos da Alimentação e da Ingestão de Alimentos/diagnóstico , Feminino , Cardiopatias Congênitas/diagnóstico , Humanos , Lactente , Recém-Nascido , Transtornos do Desenvolvimento da Linguagem/diagnóstico , Transtornos do Desenvolvimento da Linguagem/genética , Masculino , Equipe de Assistência ao Paciente , Fenótipo , Gravidez , Estudos Retrospectivos , Distúrbios da Fala/diagnóstico , Insuficiência Velofaríngea/diagnósticoRESUMO
During the last 5 years, we diagnosed in Leuven 130 patients with a 22q11 deletion. The deletion was familial in 14 out of 110 index patients (12%), which is significantly less compared to previous studies. In 10 patients, the deletion was maternal, in 4 patients paternal. A cardiac defect was the main presenting symptom in 49% of patients. The other patients were ascertained through developmental delay (16%), behavioural disturbances (7%), otorhinolaryngological manifestations (6%), psychiatric manifestations (3%) and mental retardation (2%). In one patient hypocalcemia was the presenting symptom. In another patient the severe immune deficiency led to diagnosis. Most patients presented a wide variety of the classical features of the Velo-Cardio-Facial syndrome. Velopharyngeal incompetence, learning difficulties or mostly mild mental retardation were almost always present, whereas clinical significant hypocalcemia or immune disturbances were rare. Previously un(der)recognised features include polyhydramnios, renal malformations and laryngotracheamalacia or laryngeal stenosis.
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Anormalidades Múltiplas/genética , Deleção Cromossômica , Cromossomos Humanos Par 22 , Síndrome de DiGeorge/genética , Insuficiência Velofaríngea/genética , Anormalidades Múltiplas/diagnóstico , Adolescente , Adulto , Criança , Pré-Escolar , Síndrome de DiGeorge/diagnóstico , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Países Baixos , Gravidez , Diagnóstico Pré-Natal , Insuficiência Velofaríngea/diagnósticoRESUMO
Dysphagia is a common reason for referral for investigations of oesophageal motility. Impedance measurement has now been incorporated into commercially available diagnostic manometry systems for more than a decade. This innovation, which offered the ability to record patterns of bolus transport without the need for simultaneous radiology, has for the most part failed to live up to expectations, offering few additional diagnostic insights. This review examines the potential pitfalls related to how impedance patterns are currently analysed and introduces and discusses the new concept of pressure-flow analysis integrating pressure and impedance measurements to derive new metrics linked to the pressures occurring within and around the bolus as it is being transported.
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BACKGROUND: Diagnostic evaluation of non-achalasia esophageal dysphagia remains challenging because of a lack of a clear relationship between symptoms, esophageal contraction patterns, and esophageal bolus flow. This study evaluates a novel approach to pressure-impedance analysis called automated impedance manometry (AIM) analysis in relation to bolus characteristics, Chicago classification metrics, bolus perception, and dysphagia. METHODS: AIM analysis was performed on esophageal high resolution manometry-impedance recordings from 12 healthy controls and 15 patients with dysphagia. In each subject, 10 liquid, 10 semisolid, and 10 solid swallows were analyzed using AIMplot software. KEY RESULTS: This study demonstrated that (i) esophageal pressure-flow parameters differ with bolus type (liquid, semisolid, and solids), (ii) impedance at peak pressure parameter can discriminate normal from dysphagic subjects with high accuracy on a cut-off threshold at 2400 Ohms (kappa 0.77, sensitivity 0.83, and specificity 0.93), and (iii) nadir impedance and impedance at peak pressure highly correlate with perception of esophageal bolus flow (r = -0.65, p = 0.02; r = -0.70, p = 0.01 resp). CONCLUSIONS & INFERENCES: This study presents novel esophageal pressure-flow variables in control subjects and in a cohort of patients with dysphagia. These variables are altered in relation to bolus consistency and can discriminate between subjects with and without symptoms of dysphagia. For the first time, we present high resolution esophageal pressure-flow variables that accurately link in with patient perception of esophageal bolus hold up.
Assuntos
Transtornos da Motilidade Esofágica/diagnóstico , Esôfago/fisiopatologia , Manometria/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Impedância Elétrica , Transtornos da Motilidade Esofágica/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Sensibilidade e Especificidade , Adulto JovemRESUMO
BACKGROUND: Pneumatic dilation of the lower esophageal sphincter (LES) in achalasia has an unappreciated effect on upper esophageal sphincter (UES) function. We studied UES pressure patterns at baseline and alterations in UES parameters resulting from therapy. METHODS: High-resolution manometry (HRM) tracings from 50 achalasia patients, seen at a tertiary center between January 2009 and July 2011, were reviewed. Manometric parameters studied were (i) LES: resting pressure (restP), 4-second integrated relaxation pressure (IRP4); (ii) UES: resting pressure (restP), minimal relaxation pressure (MRP), peak pressure (PP), relaxation interval (RI), intrabolus pressure (IBP), and deglutitive sphincter resistance (DSR). Mixed models analyses with LES and UES parameters as dependent variables and treatment stage as within-subject independent variable of interest were used. Correlations between treatment-induced changes in LES, UES, and esophageal body (EB) parameters were performed. KEY RESULTS: Pre- and posttreatment HRM tracings were available from 50 patients (mean age 52.7 ± 18.6 years, 29 men). Upper esophageal sphincter parameters MRP (17.9 ± 1.2 vs 15.2 ± 0.9 mmHg; p = 0.02) and IBP (31.5 ± 1.5 vs 27.4 ± 1.2 mmHg; p = 0.009) were significantly reduced after initial balloon dilation and this effect was significant in type II achalasia (p = 0.002 and p = 0.0006). Peak pressure, RI, and DSR were not. The therapeutic effect on LES IRP4 correlated significantly with the change in UES MRP, statistically mediated by the change in EB deglutitive pressure (p = 0.004 and p = 0.0002). CONCLUSIONS & INFERENCES: We present the first HRM study demonstrating that pneumatic dilation of the LES affects intraesophageal and UES pressures in patients with achalasia.