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1% vs. 4.2%) with a relative risk of 1.4 (95% confidence interval [CI]1.2-1.5, P=0.011). In the stomach, missed adenocarcinomas constituted 5.7%. Overall, missed UGICs presented more often at an advanced stage than prevalent cancers (42.2% vs. 36.2%, P less then .001). Risk factors for missed UGICs included initial EGD performed within primary (vs. secondary) care (odds ratio[OR] 1.3, 95%CI1.2-1.5), female gender (OR 1.3; 95%CI1.2-1.4), and higher comorbidity (Charlson comorbidity index ≥5 vs. 0; OR 6.0; 95%CI4.7-7.5). Conclusions Esophageal adenocarcinomas are most commonly missed among UGICs. Overlooked cancers occur more frequently within the primary care sector and are found more often in women and individuals with multiple comorbidities.
While endoscopic features of eosinophilic esophagitis (EoE) are measured using the validated EoE Endoscopic Reference Score (EREFS), a threshold for treatment response has not been defined. We aimed to determine a cut-point for endoscopic response as measured by EREFS.
We performed a secondary analysis of a randomized clinical trial comparing budesonide slurry to swallowed fluticasone multidose inhaler for initial treatment of EoE. In the parent trial, EREFS was determined before and after treatment (score range 0-9), as were histologic findings and dysphagia symptoms. We performed tabular, flexible trend, and dependent mixture analyses of measures of treatment response to select the best clinical EREFS threshold.
In the 111 included subjects (mean age 39 years; 67% male; 96% white), an EREFS threshold of ≤2 was 80% sensitive (95% confidence limits 69 - 88%) and 83% specific (95% confidence limits 67 - 94%) for histologic response (peak of <15 eosinophils per high-power field). Flexible trend analysis and dependent mixture modeling similarly suggested a threshold of ≤2 best captured the correlation of EREFS with histologic and symptomatic measures. Dependent mixture modeling found near total membership in the response class at EREFS of 0 or 1 and >75% at EREFS of 2 or 3.
An EREFS of ≤2 was the best clinical threshold for endoscopic response to topical steroid treatment and was consistent with clinical and histologic response. JAK inhibitor Therefore, future studies can report a binary outcome of endoscopic response when EREFS is two or less.
An EREFS of ≤2 was the best clinical threshold for endoscopic response to topical steroid treatment and was consistent with clinical and histologic response. Therefore, future studies can report a binary outcome of endoscopic response when EREFS is two or less.We report on the conventional and diffusion tensor imaging (DTI) findings of a 2-year-old child with clinical presentation of Joubert's Syndrome (JS) and brainstem structural abnormalities as depicted by neuroimaging.Conventional magnetic resonance imaging (MRI) showed a "molar tooth" configuration of the brainstem. A band-like formation coursing in an apparent axial plane anterior to the interpeduncular fossa was noted and appeared to partially cover the interpeduncular fossa.DTI maps and three-dimensional (3D) tractography demonstrated a prominent red-encoded white matter bundle anterior to the midbrain. Probable aberrant course of the bilateral corticospinal tracts (CST) was also depicted. Absence of the decussation of the superior cerebellar peduncles and elongated thickened, horizontal superior cerebellar peduncle (SCP) reflecting the molar tooth sign were also shown.Our report and the review of the published cases suggest that DTI and tractography may be very helpful to differentiate between interpeduncular heterotopias and similarly located white matter bundles corroborating the underlying etiology of axonal guidance disorders in the complex group of ciliopathies including JS. Our case represents an important additional puzzle piece to explore the variability of these ciliopathies.
To describe the genotype-phenotype dissociation in two Taiwanese patients with molybdenum cofactor deficiency (MoCoD) caused by
gene mutations.
Patient 1 exhibited early-onset neurological symptoms soon after birth, followed by subsequent myoclonic seizures and movement disorder. The brain magnetic resonance imaging (MRI) showed diffuse brain injury with cystic encephalomalacia along with bilateral globus pallidi involvement, hypoplasia of corpus callosum, and cerebellar atrophy. Patient 2 had a mild phenotype with prominent movement disorder after intercurrent illness, and the brain MRI showed selective injury of the bilateral globus pallidi and the cerebellum. Both patients had markedly low levels of plasma uric acid and harbored the same
homozygous c.16C > T mutation. Patient 1 showed chronic regression of developmental milestones and died of respiratory failure at the age of 8 years, whereas patient 2 demonstrated improvement in motor function.
Genotype-phenotype dissociation could be noted in patients with MoCoD due to
mutation. Patients with neonatal seizures, developmental delay, movement disorder, and motor regression after an illness, as well as focal or bilateral involvement of the globus pallidi on the neuroimages, should undergo biochemical testing of plasma uric acid. A pronounced plasma uric acid level is a good indicator of MoCoD. Early diagnosis can allow early provision of adequate genetic counseling.
Genotype-phenotype dissociation could be noted in patients with MoCoD due to MOCS2 mutation. Patients with neonatal seizures, developmental delay, movement disorder, and motor regression after an illness, as well as focal or bilateral involvement of the globus pallidi on the neuroimages, should undergo biochemical testing of plasma uric acid. A pronounced plasma uric acid level is a good indicator of MoCoD. Early diagnosis can allow early provision of adequate genetic counseling.Glucose transporter type-1 deficiency syndrome (Glut1 DS) is a rare disorder with various manifestations. Early diagnosis is crucial because treatment with the ketogenic diet can lead to clinical improvement. Here, we report the cases of two siblings with Glut1 DS and one of them presented with sleep disorder which is a rare and atypical manifestation of Glut1 DS. Patient 1 was a 3.5-year-old boy who presented with paroxysmal loss of tone and weakness of the whole body with unresponsiveness after waking up. He also had excessive daytime sleepiness, insomnia, and restless sleep. His other clinical findings included focal seizures, paroxysmal exercise-induced dyskinesia (PED), ataxia, mild global developmental delay, and hyperactivity. Patient 2 was a 5.5-year-old boy who presented with drug-resistant focal epilepsy, global developmental delay, paroxysmal dystonia, and ataxia. A novel heterozygous nonsense variant of SLC2A1, c.1177G > T (p.Glu393*), classified as a pathogenic variant, was identified in both patients, but not in their parents' blood. After treatment with the modified Atkins diet, their neurological functions significantly improved. In conclusion, we reported two siblings with variable phenotypes of Glut1 DS with a novel nonsense mutation. Although sleep disorder and daytime somnolence were the nonclassical manifestations of Glut1 DS, the diagnostic evaluation of possible Glut1 DS in patients presented with daytime sleepiness, particularly in cases with the cooccurrence of seizures or movement disorders should be considered.
To compare the topographical tear film break-up time (T-BUT) between individuals recovering from COVID-19 and control subjects using a noninvasive and noncontact technique with a Scheimpflug-Placido disc topographer.
One-hundred and twenty-two eyes from 61 post-COVID-19 patients and 124 eyes from 62 control subjects were included in this prospective study. All participants underwent detailed ophthalmological examination including best-corrected visual acuity, intraocular pressure measurements, slit lamp examination, and fundoscopy as well as qualitative and quantitative evaluation of the noninvasive first tear film break-up time (NIF-BUT) and noninvasive average tear film break-up time (NIAvg-BUT) with T-BUT measured with a Sirius (CSO - Costruzione Strumenti Oftalmici S. r. l., Italy) corneal topography device.
The mean NIF-BUT in post-COVID-19 and control patients was 5.2 ± 3.4 vs. 6.5 ± 3.2 sec, respectively. The mean NIAvg-BUT in the corresponding groups was 7.5 ± 3.5 vs. 8.8 ± 3.0 sec, respectivelyas compared to the control group. Our results suggest that post-COVID-19 patients have impaired stability of tear film, and therefore require closer monitoring regarding dry eye. In addition, tear film instability in post-COVID-19 patients can be reliably detected using a noninvasive and noncontact technique that is more comfortable for both patients and physicians.
Effectiveness of Inpatient Equivalent Home Treatment (IEHT) was examined in comparison to standard psychiatric inpatient treatment. IEHT is similar to the internationally known Home Treatment or Crisis Resolution Teams. It provides acute psychiatric treatment at the user's home, similar to inpatient hospital treatment in terms of content, flexibility, and complexity.
This retrospective matched control study used routine data of 86 patients (IEHT, n = 43, standard inpatient treatment n = 43). Readmission rates and cumulative hospital days were compared within a 12-month-follow-up time period.
The readmission rate was lower and cumulative treatment days were longer after IETH. However, both group differences were not statistically significant.
The present study indicates that IEHT is not inferior to standard inpatient treatment in terms of the risk of readmission.
The present study indicates that IEHT is not inferior to standard inpatient treatment in terms of the risk of readmission.
Exploratory study of corona-related impacts on vocational perspectives of people with mental illness.
Short survey with quantitative and qualitative questions among employees from vocational rehabilitation.
More than 90 % of the n = 76 participants stated that the situation regarding vocational reintegration or job search had worsened due to corona. Moreover, 75 % considered that there would still be a negative impact on vocational rehabilitation in the longer term. In addition to the main problem of a lack of job offers, open responses on obstacles also referred to increased psychological stress among clients as well as problems in reaching cooperation partners or in dealing with online processes.
Under Corona conditions, the work-related perspectives and participation opportunities of people with mental illness have been additionally worsened.
Under Corona conditions, the work-related perspectives and participation opportunities of people with mental illness have been additionally worsened.The law of minimum vertical dimension (MVD) states that "when the mandible moves to reach the maximum intercuspal position, this always involves bringing the mandible and maxilla as close together as possible." Therefore, after the first occlusal contact is made, the MIP will be reached through reduction of the vertical dimension. Our objective of this study, through an integrative review of the literature review, was to determine whether ignoring this law is a factor that contributes to malocclusion, temporomandibular joint dysfunction, and recurrences of functional orthodontic and orthopedic treatments.We conducted a search of the literature in five of the main electronic scientific databases. The following medical subject heading terms were used in our search centric relation, dental occlusion, malocclusion, vertical dimension, and mastication. We cross-referenced the descriptors in the following four groups centric relation and maximum intercuspation; occlusal plane and malocclusion; neuro-occlusal rehabilitation; and vertical dimension and unilateral chewing.
