Barberlind1353

Pediatric uveitis can lead to sight-threatening complications and impact quality of life (QOL) and functioning. We aim to examine health-related QOL (HRQOL), mental health, physical disability, vision-related functioning (VRF), and vision-related QOL (VRQOL) in children with juvenile idiopathic arthritis (JIA), JIA-associated uveitis (JIA-U), and other non-infectious uveitis. We hypothesize that there will be differences based on the presence of eye disease.

A multicenter cross-sectional study was conducted at four sites. Patients with JIA, JIA-U, or non-infectious uveitis were enrolled. Patients and parents completed the PedsQL (HRQOL), RCADS (anxiety/depression), CHAQ (physical disability), and EYE-Q (VRF/VRQOL). Clinical characteristics and patient-reported outcome measures (PROMs) were compared by diagnosis.

Of 549 patients, 332 had JIA, 124 JIA-U, and 93 other uveitis. Children with JIA-U had worse EYE-Q scores compared to JIA only. In children with uveitis, those with anterior uveitis (JIA-U and uveitis only) had less ocular complications, better EYE-Q scores, and worse CHAQ and PedsQL physical summary scores compared to those with non-anterior disease. In children with anterior uveitis, those with JIA-U had worse PedsQL physical summary and CHAQ scores than anterior uveitis only. Further, EYE-Q scores were worse in children with bilateral uveitis and more visual impairment. There were no differences in RCADS scores among groups.

We provide a comprehensive outcome assessment of children with JIA, JIA-U, and other uveitis diagnoses. Differences in QOL and function were noted based on underlying disease. Our results support the addition of a vision-specific measure to better understand the impact of uveitis.

We provide a comprehensive outcome assessment of children with JIA, JIA-U, and other uveitis diagnoses. Differences in QOL and function were noted based on underlying disease. Our results support the addition of a vision-specific measure to better understand the impact of uveitis.Cranioectodermal dysplasia (CED) is a rare autosomal recessive disorder primarily characterized by craniofacial, skeletal, and ectodermal abnormalities. CED is a chondrodysplasia, which is part of a spectrum of clinically and genetically heterogeneous diseases that result from disruptions in cilia. Pathogenic variants in genes encoding components of the ciliary transport machinery are known to cause CED. Intra- and interfamilial clinical variability has been reported in a few CED studies and the findings of this study align with these observations. Here, we report on five CED patients from four Polish families with identical compound heterozygous variants [c.1922T>G p.(Leu641Ter) and c.2522A>T; p.(Asp841Val)] in WDR35. Semagacestat purchase The frequent occurrence of both identified changes in Polish CED families suggests that these variants may be founder mutations. Clinical evaluation of the CED patients revealed interfamilial clinical variability among the patients. This includes differences in skeletal and ectodermal features as well as variability in development, progression, and severity of renal and liver insufficiency. This is the first report showing significant interfamilial clinical variability in a series of CED patients from unrelated families with identical compound heterozygous variants in WDR35. Our findings strongly indicate that other genetic and non-genetic factors may modulate the progression and expression of the patients' phenotypes.

To report the incidence and quantity of silicone oil microbubbles and the relationship with the number of intravitreal anti-vascular endothelial growth factor (VEGF) injections and evaluate if microbubbles induce artefacts on optical coherence tomography (OCT) images.

Observational, descriptive, cross-sectional study. Patients with wet age-related macular degeneration were included who had been treated for 1year minimally with anti-VEGF injections repackaged in the hospital pharmacy. Detection and quantification of silicone microbubbles by mydriatic biomicroscopic examination were conducted 1month after the last injection. The numbers of microbubbles were quantified on a scale of 0-3 0, none; 1 scarce (1-10 microbubbles); 2 moderate (10-30); or 3 numerous (>30). Shadowing on OCT images was classified as 0-3 0, none; 1 obscuring some retinal layers; 2 obscuring all retinal layers; or 3 obscuring the retinal thickness.

The study included 142 eyes of 98 patients (mean age, 82.4years+7.3; range, 65-97) treated with 2377 injections. Microbubbles were detected in 127 (89.4%) eyes, 62 (43.6%) with numerous microbubbles and 36 (25.4%) and 29 (20.4%), respectively, with scarce and moderate numbers. A positive correlation was found between the numbers of injections and intravitreal silicone (rho, 0.7). Optical coherence tomography (OCT) artefacts were detected in 11 eyes; the artefacts obscured all retinal layers in three eyes. No significant relationship could be established between the appearance of floaters and the microbubbles.

The presence and number of silicone microbubbles were correlated with the number of intravitreal injections. Microbubbles can produce OCT artefacts, which can hinder the treatment decision.

The presence and number of silicone microbubbles were correlated with the number of intravitreal injections. Microbubbles can produce OCT artefacts, which can hinder the treatment decision.A 70-year-old woman was admitted to a local hospital with a five-day history of back pain. She had been referred to our hospital after an abnormal chest shadow was identified on chest X-ray. Chest computed tomography (CT) revealed an anterior mediastinal mass in the upper lobe of the left lung. Her general condition was good. She was diagnosed with lung cancer, and examination was planned. However, respiratory failure rapidly worsened on hospital day 2, and a ruptured pseudoaneurysm of the thoracic aorta (PTA) was diagnosed from contrast-enhanced CT. Emergency thoracic endovascular aortic repair was successfully performed, and her postoperative course was uneventful. The hemodynamics of the PTA were stable in the case of this patient, but the risk of rupture is extremely high and frequently fatal. PTA should therefore be included among the differential diagnoses of mediastinal tumor. KEY POINTS SIGNIFICANT FINDINGS OF THE STUDY Pseudoaneurysm of the thoracic aorta (PTA) may present on imaging findings that resemble lung cancer.