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We analyzed the changes in various motor function scores over a four-year period in patients with non-ambulatory spinal muscular atrophy (SMA) during Nusinersen treatment. Patients underwent Hammersmith Infant Neurological Examination (HINE) or Hammersmith Functional Motor Scale Expanded (HFMSE) before treatment, and approximately every 4 months thereafter. Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) or Children's Hospital of Philadelphia - Adult Test of Neuromuscular Disorders (CHOP ATEND), Revised Upper Limb Module (RULM), and Motor Function Measure (MFM) were performed based on baseline functional status. Narrative interviews were conducted to explore post-treatment physical improvement regarding activities of daily living (ADLs) and fatigue after ADLs. Based on HFMSE results, 9 patients achieved minimum clinically important differences. Average rates of change (slopes) with corresponding 95% confidence intervals for all assessment tools were in a positive direction. CHOP-INTEND showed the most prominent improvement in children and adolescents followed by HFMSE. Improvements in CHOP-ATEND were most noticeable in adults. Improvements were accompanied by changes in ADLs as observed in the narrative interviews. It is necessary to consider various functional aspects to determine the effectiveness of Nusinersen therapy. The objective assessment of the therapeutic effect of Nusinersen in non-ambulatory SMA requires consideration of functional aspects and the related ADLs.
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Atrofia Muscular Espinal , Oligonucleotídeos , Humanos , Masculino , Feminino , Oligonucleotídeos/uso terapêutico , Atrofia Muscular Espinal/tratamento farmacológico , Criança , Pré-Escolar , Adolescente , República da Coreia/epidemiologia , Adulto , Lactente , Resultado do Tratamento , Atividades Cotidianas , Adulto JovemRESUMO
BACKGROUND: Butane is an aliphatic hydrocarbon used in various commercial products. While numerous reports of sudden cardiac-related deaths from butane inhalation have been described, butane-associated acute encephalopathy has rarely been reported. CASE PRESENTATION: A 38-year-old man presented with cognitive dysfunction after butane gas inhalation. Neuropsychological test results showed impairments in verbal and visual memory, and frontal executive function. Diffusion weighted MRI revealed symmetric high-signal changes in the bilateral hippocampus and globus pallidus. FDG-PET demonstrated decreased glucose metabolism in the bilateral precuneus and occipital areas and the left temporal region. At the 8-month follow-up, he showed still significant deficits in memory and frontal functions. Diffuse cortical atrophy with white matter hyperintensities and extensive glucose hypometabolism were detected on follow-up MRI and FDG-PET, respectively. Brain autopsy demonstrated necrosis and cavitary lesions in the globus pallidus. CONCLUSIONS: Only a few cases of butane encephalopathy have been reported to date. Brain lesions associated with butane encephalopathy include lesions in the bilateral thalamus, insula, putamen, and cerebellum. To the best of our knowledge, this is the first report on bilateral hippocampal and globus pallidal involvement in acute butane encephalopathy. The pathophysiology of central nervous system complications induced by butane intoxication is not yet fully understood. However, the direct toxic effects of butane or anoxic injury secondary to cardiac arrest or respiratory depression have been suggested as possible mechanisms of edematous changes in the brain after butane intoxication.
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Encefalopatias , Fluordesoxiglucose F18 , Masculino , Humanos , Adulto , Autopsia , Neuroimagem , Encéfalo/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Encefalopatias/induzido quimicamente , Encefalopatias/diagnóstico por imagem , Butanos , Testes NeuropsicológicosRESUMO
Young-onset dementia (YOD, age at onset below 45 y) has a broad differential diagnosis. We describe a 41-year-old man with atypical manifestations of YOD syndrome in cerebral thromoboangiitis obliterans (CTAO). Extensive antemortem workup including clinical assessment, laboratory investigations, neuroimaging, and genetic testing did not elucidate a diagnosis. Postmortem neuropathologic examination revealed cortical sickle-shaped granular atrophy, resulting from numerous remote infarcts and cortical microinfarcts that mainly affected the bilateral frontal and parietal lobe, confirming CTAO. Although CTAO is a rare cause of vascular dementia, it should be considered as one of the differentials in patients with YOD with a history of heavy smoking and presence of symmetric damages of watershed-territory on neuroimaging.
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Demência Vascular , Tromboangiite Obliterante , Adulto , Demência Vascular/diagnóstico , Diagnóstico Diferencial , Humanos , Masculino , Síndrome , Tromboangiite Obliterante/complicações , Tromboangiite Obliterante/diagnóstico , Tromboangiite Obliterante/patologiaRESUMO
This study aimed to apply various ranges of citric acid levels in the mouth and T-cannula to compare the validity with instrumental aspiration measures in patients with tracheostomy. Sixty-one patients underwent the citric acid cough reflex test (CRT) and videofluoroscopic swallowing study (VFSS). Citric acid was delivered via facemask and T-cannula at concentrations of 0.4 mol/L, 0.6 mol/L, and 0.8 mol/L. Further, we recorded the coughing count and presence of ≥ 2 (C2) and ≥ 5 (C5) coughs. CRT via facemask at 0.4 mol/L C2, 0.6 mol/L C5, and 0.8 mol/L C2 and C5 were significantly associated with the presence of tracheal aspiration during VFSS. The sensitivity and specificity were optimized at 0.8 mol/L C2 for mouth inhalation and at 0.8 mol/L C5 for T-cannula inhalation. There was a significant difference in the coughing count during CRT at 0.4 mol/L and 0.8 mol/L via mouth inhalation between patients with or without tracheal aspiration, but not via T-cannula. The AUC for 0.8 mol/L facemask inhalation was 0.701. The optimal cut-off value of coughing count was thrice with 84.62% sensitivity and 50.00% specificity on the ROC curve. Afferent sensory nerve desensitization around and below the tracheostomy site could affect coughing reflex initiation and decrease the sensitivity of detecting aspiration in tracheotomized patients. The citric acid CRT via facemask can reliably detect tracheal aspiration and presence of coughing reflex compared to that via T-cannula in patients with tracheostomy.
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Ácido Cítrico , Deglutição , Tosse/diagnóstico , Tosse/etiologia , Deglutição/fisiologia , Humanos , Reflexo/fisiologia , TraqueostomiaRESUMO
Ocular disease is one of the causes of abnormal head positioning. Conventionally, the behavioral characteristics of ocular torticollis patients are different from those of non-ocular torticollis patients, though research addressing the significance of this difference is yet limited. This prospective, cross-sectional study aims to develop a questionnaire based on the clinical features in children with abnormal head posture being ocularly assessed. Children aged ≥ 6 months who visited our rehabilitation medicine clinic with a chief complaint of abnormal head posture were included. Patients with apparent orthopedic and neurological diseases were excluded. A 10-item questionnaire was developed to analyze the behavioral characteristics of patients. The patients were divided into ocular and non-ocular torticollis groups according to ophthalmologic examination results. Thirty-four and 13 patients were assigned to the non-ocular torticollis and ocular torticollis groups, respectively. Five questions were finally selected and the questionnaire was scored as the sum of the scores for the each questions (yes = 1 point, no = 0 point). The median (interquartile range) score of the ocular torticollis group (3.0 (3.0-4.0)) was significantly higher than that of the non-ocular torticollis group (2.0 (1.0-3.0); p = 0.000).Conclusion: Our parent-reported torticollis assessment questionnaire may be useful for screening ocular torticollis. What is known: ⢠Ocular disease is one of the various causes of abnormal head positioning. ⢠The behavioral characteristics of patients with ocular torticollis are different from those of patients with non-ocular torticollis; research on this matter is limited. What is new: ⢠We delveloped a questionnaire to differentiate ocular and postural torticollis and the score of the questionnaire was different between patients with or without ocular disease. ⢠The questionnaire based on behavioral characteristics may help screening and determining the need of ophthalmic evaluation in patients with torticollis.
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Transtornos da Motilidade Ocular , Torcicolo , Criança , Estudos Transversais , Humanos , Transtornos da Motilidade Ocular/diagnóstico , Transtornos da Motilidade Ocular/etiologia , Estudos Prospectivos , Inquéritos e Questionários , Torcicolo/diagnóstico , Torcicolo/etiologiaRESUMO
PURPOSE: We aimed to evaluate the potential role of quantitative methods associated with lymphoscintigraphy for the assessment of severity of lymphedema post-operatively in patients with breast cancer who did not show definite dermal backflow activity on the lymphoscintigraphy. METHODS: We evaluated 47 lymphoscintigraphies without dermal backflow in patients with lymphedema who received a mastectomy and axillary dissection or sentinel lymph node dissection for invasive ductal carcinoma of the breast. The quantitative asymmetry indices (QAIs) of both arms were calculated for each axilla, upper arm, forearm, and the whole arm. The QAI was defined as the radiopharmaceutical uptake ratio of the affected side to the unaffected side. Arm circumference was measured at four locations per arm to identify the maximal circumference difference (MCD) between affected and unaffected sides. RESULTS: The total and forearm QAIs of each side arm were significantly higher in the group with above moderate stage lymphedema compared with the mild stage group. Previous radiotherapy also had a significant effect on radiotracer retention expressed as QAI. The MCD was significantly correlated with QAI values of the forearm and the whole arm. The QAI of axillary areas was not significantly correlated with circumferential measurements of the arm. CONCLUSIONS: The QAIs have significant value for the diagnosis and severity of lymphedema and may therefore potentially be used as an objective tool for the assessment of lymphedema.
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Neoplasias da Mama , Linfedema , Axila , Neoplasias da Mama/diagnóstico por imagem , Neoplasias da Mama/cirurgia , Estudos de Viabilidade , Humanos , Excisão de Linfonodo , Linfedema/diagnóstico por imagem , Linfedema/etiologia , Linfocintigrafia , MastectomiaRESUMO
Cerebrospinal fluid (CSF) amyloid-beta 1-42 (Aß1-42) and amyloid positron emission tomography (PET) are the 2 main Alzheimer disease amyloid biomarkers that have been validated in neuropathologically confirmed Alzheimer disease cases. Although many studies have shown concordance of amyloid positivity or negativity between CSF Aß1-42 and amyloid PET, several studies also reported discrepancies between these 2 Aß biomarkers. We conducted a comparison of CSF Aß1-42 level, amyloid PET, and autopsy findings in a case with progressive supranuclear palsy in which biomarker acquisition and postmortem pathologic examination were conducted almost at the same time. Our case with antemortem CSF Aß1-42 (+)/amyloid PET (-) who was pathologically confirmed with Aß pathology in the cerebral cortex may indicate CSF Aß1-42 is more sensitive for assessing in vivo Aß than amyloid PET.
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Peptídeos beta-Amiloides/líquido cefalorraquidiano , Autopsia , Biomarcadores/líquido cefalorraquidiano , Fragmentos de Peptídeos/líquido cefalorraquidiano , Paralisia Supranuclear Progressiva/líquido cefalorraquidiano , Paralisia Supranuclear Progressiva/patologia , Idoso , Encéfalo/patologia , Humanos , Masculino , Tomografia por Emissão de Pósitrons , Paralisia Supranuclear Progressiva/diagnóstico por imagemRESUMO
The present pilot study was aimed at conducting a comparative analysis of the level of activation in the prefrontal cortex among a normal elderly group and amnestic and nonamnestic mild cognitive impairment (MCI) groups and investigating the presence of neural compensatory mechanisms according to types of MCI and different cognitive tasks. We performed functional near-infrared spectroscopy (fNIRS) along with cognitive tasks, including two-back test, Korean color word Stroop test, and semantic verbal fluency task (SVFT), to investigate hemodynamic response and the presence of neural compensation and neuroplasticity in the prefrontal cortex of patients with amnestic and nonamnestic MCI compared with a healthy elderly group. During the two-back test, there was no significant difference in the bilateral region-of-interest (ROI) analysis in the three groups. During the Stroop test, right-sided hyperactivation compared to the left side during the task was shown in the nonamnestic MCI and normal groups with statistical significance. Mean acc∆HbO2 on the right side was highest in the nonamnestic MCI group (0.30 µM) followed by the normal group (0.07 µM) and the amnestic MCI group (-0.10 µM). Otherwise, intergroup ROI analysis of acc∆HbO2 in these activated right sides showed no significant difference. During the VFT test, there was no significant difference in the bilateral region-of-interest analysis in the three groups. The highest mean acc∆HbO2 was shown in the normal group (0.79 µM) followed by the nonamnestic MCI group (0.52 µM) and the amnestic MCI group (0.21 µM). Otherwise, there was no significant difference between groups. The hemodynamic response during fNIRS showed different findings according to MCI types and cognitive tasks. Among the three tasks, the Stroop test showed results that were suggestive of neural compensatory mechanisms in the prefrontal cortex in nonamnestic MCI.
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Adaptação Psicológica/fisiologia , Cognição/fisiologia , Disfunção Cognitiva/diagnóstico por imagem , Disfunção Cognitiva/metabolismo , Desempenho Psicomotor/fisiologia , Espectroscopia de Luz Próxima ao Infravermelho/métodos , Idoso , Idoso de 80 Anos ou mais , Disfunção Cognitiva/psicologia , Feminino , Humanos , Masculino , Testes Neuropsicológicos , Projetos PilotoRESUMO
OBJECTIVES: In the subjects with high cervical spinal cord injury (SCI), The difference of respiratory muscle strength and pulmonary function according to supine and sitting position were investigated whether there are changes in the tendency. METHODS: Twenty-three subjects with high cervical SCI and 23 subjects with low cervical and thoracic SCI were evaluated. The reference neurological level of injury for dividing the groups was fifth cervical vertebrae (C5). SCI severity was classified as motor-complete SCI. The supine and sitting forced vital capacity (FVC), percent of the predicted FVC (FVC%), maximal expiratory pressure (MEP), maximal inspiratory pressure (MIP), MEP / MIP ratio, and peak cough flow (PCF) were compared. RESULTS: The significantly higher FVC, FVC% in the low cervical and thoracic SCI group was identified in the supine position than the sitting position. The same tendency was observed in the high cervical SCI group. In the comparison of respiratory muscle strength, higher values of supine MEP and MIP were found only in the high cervical SCI group. PCF is more positively correlated with MIP than with MEP in all groups. CONCLUSION: We found that the supine position is more advantageous for the strong breathing and larger lung capacity in patients with high cervical SCI. The positive correlation between PCF and MIP in the patients with high cervical SCI was also confirmed. These results may be used to establish a pulmonary rehabilitation strategy for patients with high cervical SCI.
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Força Muscular/fisiologia , Músculos Respiratórios/fisiopatologia , Postura Sentada , Traumatismos da Medula Espinal/fisiopatologia , Decúbito Dorsal , Adulto , Vértebras Cervicais , Feminino , Humanos , Masculino , Pressões Respiratórias Máximas , Pessoa de Meia-Idade , Postura , Testes de Função Respiratória , Estudos Retrospectivos , Índice de Gravidade de Doença , Vértebras Torácicas , Capacidade VitalRESUMO
BACKGROUND: We conducted a prospective cohort study to investigate prevalence of poststroke cognitive impairment at 3 and 12 months after stroke onset and identify clinical and demographic factors associated with improvement or decline in cognitive function between 3 months and 12 months. METHODS: We analyzed the cognitive assessments of total patients and patients older than 65 years separately. All patients with an ischemic stroke were divided into normal cognitive group (NCG) and impaired cognition group (ICG) by using a cutoff score on the Korean Mini-Mental State Examination (K-MMSE). Patients were additionally classified into 3 subgroups according to the changes in their K-MMSE scores between 3 and 12 months: Stable group with K-MMSE scores changes ranging from -2 to +2 points (-2 ≤ â³MMSE ≤ +2); converter group with increase more than 3 points (3 ≤ â³MMSE); and reverter group with decrease more than 3 points (-3 ≤ â³MMSE). We also analyzed factors affecting cognitive change from 3 months to 12 months among the 3 groups including baseline medical record, stroke and treatment characteristics, and various functional assessments after 3 months. RESULTS: This study included 2,625 patients with the first time ischemic stroke. Among these patients, 1,735 (66.1%) were classified as NCG, while 890 patients (33.9%) were belonged to the ICG at 3 month. Within the NCG, 1,460 patients (82.4%) were stable group, 93 patients (5.4%) were converter group, and 212 patients (12.2%) were reverter group at 12 months onset. Within the ICG group, 472 patients (53.0%) were stable group, 321 patients (36.1%) were converter group, and 97 patients (10.9%) were reverter group. When different factors were investigated, the three subgroups in NCG and ICG showed significant different factors affecting cognitive function from 3 to 12 month. CONCLUSIONS: The prevalence of cognitive impairment showed difference between 3,12 months. To analyze the cognitive change from 3 month to 12 month, the proportion stable group was dominant in NCG and converter group was higher in ICG. By investigating the influencing factors from each group, we were able to identify the predictors including the age factor.
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Transtornos Cognitivos/etiologia , Cognição , Acidente Vascular Cerebral/complicações , Idoso , Idoso de 80 Anos ou mais , Transtornos Cognitivos/diagnóstico , Estudos de Coortes , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Estudos Prospectivos , República da Coreia , Acidente Vascular Cerebral/epidemiologiaRESUMO
The purpose of this study was to examine the effects of taurine on lipid levels and liver function and the actions of insulin and leptin by biochemically analyzing the blood of albino mice fed a diet containing 20% taurine. The group fed a high-fat diet (HF) containing 20% taurine (HF + taurine 20%) showed higher blood HDL cholesterol levels as well as significantly lower total cholesterol and triglyceride levels (p < 0.05) than the group fed HF. No significant difference was observed among indicators of liver function, such as alkaline phosphatase, aspartate aminotransferase, alanine aminotransferase, and lactate dehydrogenase activities. However, the HF + taurine 20% group showed significantly lower insulin and leptin levels than the HF group (p < 0.05). These findings show that 20% taurine had a significant effect on blood lipid levels and blood sugar maintenance in mice fed an HF.
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Glicemia/efeitos dos fármacos , Lipídeos/sangue , Taurina/farmacologia , Animais , Dieta Hiperlipídica/efeitos adversos , Fígado/efeitos dos fármacos , Masculino , Camundongos , Camundongos Endogâmicos ICRRESUMO
Flaxseed is becoming increasingly popular as a superfood due to its many health benefits. While flaxseed is considered an oilseed, flaxseed meal (the by-product of flaxseed oil extraction) also contains many nutritional compounds not found in the oil. This study explored the use of a Canadian flaxseed (Linum usitatissimum L.) meal product to fortify bakery foods and improve their nutritional properties. Muffins were made using a control recipe as well as four different formulations that included varying amounts of a standardized flaxseed meal supplement called XanFlax (5, 10, 20, and 40%). The physicochemical properties of the muffins, including their texture, color, sugar content, pH, specific gravity, loss rate, and moisture, were evaluated. Additionally, the sensory attributes contributing to muffin quality were thoroughly examined. The lightness (L*) and yellowness (b*) of the muffins, which were highest in the control group at 82.22 and 34.69, respectively, decreased as the amount of XanFlax increased (p < 0.05). Additionally, the redness (a*) of the muffins increased as the amount of XanFlax increased (p < 0.05). The muffins' sugar content (2.00 brix%) remained consistent across all treatments and controls except for those prepared with 20% XanFlax (2.17 brix%). As the amount of XanFlax powder increased, the pH of the muffins increased significantly. The moisture content in the muffins was highest at 23.71 ± 0.79% in the 10% XanFlax treatment and lowest at 22.06 ± 0.30% in the 40% XanFlax treatment. The muffins enriched with 5% XanFlax had an average height of 5.35 cm and volume of 131.33 mL, surpassing the results for the muffins made with other formulas (p < 0.05). Additionally, the cohesiveness and gumminess of the muffins tended to increase with the addition of XanFlax. The most favorable attributes, namely the appearance, flavor, taste, texture, and overall acceptance, were consistently associated with the 5% and 10% XanFlax treatments (p < 0.05). This study marks the first time a standardized flaxseed gum product, XanFlax, has been described in a functional baking application.
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Psychogenic dysphagia is a deglutition disorder characterized by a fear of swallowing, with no structural or functional causes. This report presents the case of a young male patient who had severe malnutrition due to psychogenic dysphagia and was provided visual biofeedback using fiberoptic endoscopic evaluation of swallowing (FEES). A healthy 25-year-old man presented to our clinic with a complaint of throat discomfort when swallowing that had started 6 months prior. As the symptoms worsened, he became fearful of food spreading to his lungs after swallowing and the development of respiratory difficulties. His food intake gradually decreased, resulting in a weight loss of 20 kg within 2 months. Evaluation of organic and other functional causes of dysphagia was performed, but no abnormalities were detected. The sensation of a lump in his throat, fear of swallowing, and anxiety were transformed into somatic symptoms. The patient was diagnosed with psychogenic dysphagia. After visual biofeedback by a physician who performed FEES, the patient resumed eating normally and increased his food intake. If routine tests do not reveal structural or functional causes of dysphagia, assessment of a psychogenic swallowing disorder should be considered. FEES can help in the diagnosis and management of psychogenic dysphagia.
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This study was performed to investigate the usefulness of functional near-infrared spectroscopy (fNIRS) by conducting a comparative analysis of hemodynamic activation detected by fNIRS and positron emission tomography (PET) and magnetic resonance imaging (MRI) in patients with mild cognitive impairment (MCI) and Alzheimer's disease (AD). Participants were divided into four groups: the subjective memory impairment (SMI), amnestic MCI (aMCI), non-amnestic MCI (naMCI), and AD groups. We recorded the hemodynamic response during the semantic verbal fluency task (SVFT) using a commercial wireless continuous-wave NIRS system. The correlation between the parameters of the neuroimaging assessments among the groups was analyzed. Region of interest-based comparisons showed that the four groups had significantly different hemodynamic responses during SVFT in the bilateral dorsolateral prefrontal cortex (DLPFC). The linear mixed effect model result indicates that the mean ΔHbO2 from the bilateral DLPFC regions showed a significant positive correlation to the overall FDG-PET after controlling for age and group differences in the fNIRS signals. Amyloid PET signals tended to better differentiate the AD group from other groups, and fNIRS signals tended to better differentiate the SMI group from other groups. In addition, a comparison between the group pairs revealed a mirrored pattern between the hippocampal volume and hemodynamic response in the DLPFC. The hemodynamic response detected by fNIRS showed a significant correlation with metabolic and anatomical changes associated with disease progression. Therefore, fNIRS may be considered as a screening tool to predict the hemodynamic and metabolic statuses of the brain in patients with MCI and AD.
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Doença de Alzheimer , Disfunção Cognitiva , Humanos , Doença de Alzheimer/diagnóstico por imagem , Doença de Alzheimer/metabolismo , Espectroscopia de Luz Próxima ao Infravermelho/métodos , Disfunção Cognitiva/diagnóstico por imagem , Tomografia por Emissão de Pósitrons/métodos , Encéfalo/metabolismo , Imageamento por Ressonância Magnética , HemodinâmicaRESUMO
Background and purpose: The purpose of this study is to examine the relationship between the parameters of a silver nanowire-based flexible pressure sensor developed to measure the non-nutritive sucking (NNS) performance and predict the nutritive sucking status in preterm infants. Methods: Preterm infants who were referred for feeding difficulty during the transition period from tubal feeding to oral feeding were enrolled in our study. A flexible pressure sensor was used to measure the non-nutritive sucking parameters of neonates. The evaluator stimulated the infants' lips and tongue with a pacifier integrated with a sucking pressure sensor, to check whether non-nutritive sucking had occurred. When the sucking reflex was induced, it was measured. The infants' sucking characteristics were subdivided into classifications according to the NOMAS criteria and full oral feeding (FOF) status. Quantitative NNS measurement according to the feeding state was compared between groups. Results: When comparing the quantitative NNS measurement by feeding characteristics, the average sucking pressure was significantly higher in infants in the FOF capable group than those in the incomplete FOF group. In addition, the maximum and average sucking pressure was significantly higher in infants with a normal sucking pattern compared to those with a disorganized sucking pattern. The average NNS pressure was divided over the range of 0-3 kPa and the same weight was assigned to each item. When the optimal cut-off value for the sensitivity and specificity of the average NNS pressure to estimate the FOF was set, a pressure of 1.5 kPa yielded the highest sensitivity (84.62%) and specificity (67.65%) on the receiver operating characteristic (ROC) curve. The area under the curve (AUC) was 0.786, and this result was statistically significant. Conclusions: This study presents a quantitative parameter for non-nutritive sucking in preterm infants with the use of a flexible pressure sensor. Results show possible quantitative indicators that can aid in predicting when preterm infants can transition to oral feeding and their prognosis. This will serve as a basis for future research on determining the feeding transition period of newborns with health conditions that affect oral feeding.
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BACKGROUND: Coxa valga, measured as the neck-shaft angle (NSA) or head-shaft angle (HSA), is regarded as a potential risk factor for hip dislocation in patients with cerebral palsy. We investigated the effects of a novel hip brace on coxa valga. METHODS: A prospective, multicenter, assessor-blinded, randomized controlled trial was conducted from July 2019 to November 2021. Children with cerebral palsy aged 1 to 10 years with Gross Motor Function Classification System levels IV and V were recruited. The study group wore a hip brace for at least 12 hour a day. A lower strap of the hip brace was designed to prevent coxa valga biomechanically. The effectiveness of the hip brace on coxa valga was assessed by measurement of the NSA and head-shaft angle at enrollment and 6 and 12 months after enrollment. RESULTS: Sixty-six participants were enrolled, and 33 patients were assigned to each group. Changes in the mean NSA of both sides and the NSA of left side showed significant differences between the 2 groups over 12 months (mean NSA of both sides, -1.12 ± 3.64 in the study group and 1.43 ± 3.75 in the control group, P = .023; NSA of the left side, -1.72 ± 5.38 in the study group and 2.01 ± 5.22 in the control group, P = .008). CONCLUSIONS: The hip brace was effective in preventing the progression of coxa valga and hip displacement, suggesting that the prevention of coxa valga using hip brace is a contributing factor in prevention of hip displacement.
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Paralisia Cerebral , Coxa Valga , Luxação Congênita de Quadril , Luxação do Quadril , Humanos , Criança , Luxação do Quadril/prevenção & controle , Luxação do Quadril/complicações , Paralisia Cerebral/complicações , Estudos Prospectivos , Luxação Congênita de Quadril/complicaçõesRESUMO
Background: Various clinical applications have been attempted using artificial intelligence (AI) clinical decision support system (CDSS), and it has become a starting point for personalized cancer treatment. We aimed to identify the degree of agreement between the AI-CDSS, Watson for Oncology (WFO), and the clinician in treatment recommendations for Korean breast cancer patients and to provide guidelines for future improvement. Methods: One hundred and eighty-three breast cancer patients who underwent treatment at the Pusan National University Hospital between January 1, 2016 and May 31, 2017 were enrolled in this study. The concordance between WFO's and clinicians' treatment recommendations were examined according to various factors. Results: WFO gave the same treatment option recommendations as clinicians in 74 (40.4%) of the cases. According to the logistic regression, the difference in recommendation concordance between stage I and stage III was statistically significant (P = 0.004), and there was no difference among other factors. Conclusion: The concordance of treatment recommendations was low overall. However, this is largely attributable to the differences of medical insurance system and healthcare environment between the United States and Korea. In the future, region-specific features should be considered or reflected during the development of AI-CDSS.
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Neoplasias da Mama , Sistemas de Apoio a Decisões Clínicas , Humanos , Feminino , Inteligência Artificial , Neoplasias da Mama/epidemiologia , Neoplasias da Mama/terapia , Oncologia , República da Coreia/epidemiologiaRESUMO
The survival rate of children admitted in the neonatal intensive care unit (NICU) after birth is on the increase; hence, proper evaluation and care of their neurodevelopment has become an important issue. Neurodevelopmental assessments of individual domains regarding motor, language, cognition, and sensory perception are crucial in planning prompt interventions for neonates requiring immediate support and rehabilitation treatment. These assessments are essential for identifying areas of weakness and designing targeted interventions to improve future functional outcomes and the quality of lives for both the infants and their families. However, initial stratification of risk to select those who are in danger of neurodevelopmental disorders is also important in terms of cost-effectiveness. Efficient and robust functional evaluations to recognize early signs of developmental disorders will help NICU graduates receive interventions and enhance functional capabilities if needed. Several age-dependent, domain-specific neurodevelopmental assessment tools are available; therefore, this review summarizes the characteristics of these tools and aims to develop multidimensional, standardized, and regular follow-up plans for NICU graduates in Korea.
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Cancer rehabilitation aims to enable patients to maximize their physical, social, psychological, and vocational functions within the limits that arise during the course of the disease and its treatment. According to recent domestic studies, most patients report one or more physical problems during or after cancer treatment. This review presents the latest updates on cancer-related rehabilitation issues. Cancer rehabilitation in Korea still faces various barriers, including a lack of awareness, problems with the healthcare delivery system, and high costs, and recognizing the need for rehabilitation during cancer treatment varies among patients and even physicians. Hence, an appropriate cooperative referral system for cancer rehabilitation requires improvement. We herein review the current status of and barriers to cancer rehabilitation in South Korea to resolve the issues of domestic cancer rehabilitation.
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Bone morphogenetic protein-binding endothelial cell precursor-derived regulator (BMPER) gene mutation presents a disease spectrum ranging from a mild type of ischiospinal dysostosis (ISD) to a more severe type of diaphanospondylodysostosis (DSD). It is known that BMPER gene mutations are very rare, and their resulting clinical manifestations, including musculoskeletal modifications, appear in a spectrum of various types and severity levels. With the development of genetic diagnosis, case reports of patients with specific mutations in the BMPER gene have been published. The most commonly known clinical features are kidney structural problems, including neuroblastoma and renal cysts. Meanwhile, respiratory failure is a common and fatal symptom for patients with BMPER gene mutation, but it does not appear to have been well evaluated or managed so far. We report a case of a confirmed novel mutation of c.1750delT (p.Cys584fs) in the BMPER gene in a female adolescent patient and highlight the importance of the regular assessment of respiratory failure for successful management of this condition.