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Logistic regression analysis revealed that negative changes in family relationships increased the risk of higher maternal COVID-19-related suspicion.

The most important factors associated with parental high CORPD levels were negative changes in family relationships and children with high COVID-19-related anxiety. Children's high COVID-19-related anxiety levels were associated with living with a single parent or separation from parents, negative changes in family relationships, previous COVID-19 infection in the family, and changes in daily routines.

The most important factors associated with parental high CORPD levels were negative changes in family relationships and children with high COVID-19-related anxiety. Children's high COVID-19-related anxiety levels were associated with living with a single parent or separation from parents, negative changes in family relationships, previous COVID-19 infection in the family, and changes in daily routines.

5-Aminosalicylate acid (5-ASA) is a crucial drug for ulcerative colitis (UC) patients. 5-ASA has several side effects. However, the types of side effects vary and are sometimes severe.

A single-center, retrospective cohort study was conducted from September 2001 to June 2020. We surveyed consecutive UC patients who visited our hospital and investigated adverse drug reactions (ADRs) related to 5-ASA formulations. We grouped patients into four subgroups (1) lupus-like symptoms, (2) blood test abnormalities, (3) mimicking IBD exacerbation and (4) others. Their clinical courses were evaluated.

We surveyed 288 consecutive UC patients, 35 of whom developed ADRs of any grade (12.9%), and analyzed 27 patients. The median age and 5-ASA doses were 43years and 4000 mg, respectively, and 48% were male. The ADR triggers were the first use of 5-ASA (

 = 17, 63%), 5-ASA switch (

 = 9, 33%) and 5-ASA dose escalation (

 = 1, 3.7%). The median time to ADR was 15days (IQR 7, 63). Ten patients (37%) had grade 3/4 ADRs. Fever was the most common ADR (

 = 6, 23%), followed by hyperamylasemia and headache (

 = 4, 15%). Lupus-like symptoms accounted for 56% (

 = 15), blood test abnormalities for 26% (

 = 7), mimicking IBD exacerbation for 15% (

 = 4) and others for 3.7% (

 = 1). The time to ADR was shorter in the mimicking IBD exacerbation group (median 11days) than in the lupus-like symptoms (22days) and blood test abnormalities (55days) groups.

Classification of ADRs related to 5-ASA into four groups might lead to early recognition of ADRs.

Classification of ADRs related to 5-ASA into four groups might lead to early recognition of ADRs.

To establish the molecular diagnosis in two brothers presenting with the ocular features of Knobloch Syndrome using whole genome sequencing (WGS).

Clinical examination and ophthalmological phenotyping were completed under general anaesthesia. DNA samples were tested on a targeted retinal dystrophy next-generation sequencing panel. Subsequently, WGS was performed to identify additional variants.

Clinical examination confirmed the diagnosis of Knobloch Syndrome. Targeted sequencing identified a novel heterozygous frameshift pathogenic variant in

, c.2864dupC; p.(Gly956ArgfsX20), inherited from their mother. A second paternally inherited heterozygous missense variant was identified in both brothers, c.5014G>A; p.(Asp1672Asn), which was initially considered to have too high frequency to be pathogenic (MAF 8.8%). This led to an in-depth analysis of the

locus using WGS data, which confirmed that Asp1672Asn is a likely pathogenic hypomorphic allele.

To date, all confirmed genetic diagnoses of Knoblocthe most likely second pathogenic variant in our family. This supports the hypothesis that this is a hypomorphic allele, which, in combination with a loss of function pathogenic variant, leads to Knobloch syndrome.To our knowledge, this is the first time that WGS has been used to confirm a molecular diagnosis of Knobloch syndrome in this way and has provided further insight into the molecular mechanisms in this rare disorder.In this study, we explored the role and mechanism of repulsive guidance molecule B (RGMb, also known as Dragon) in the protective effects of curcumin against renal fibrosis and verified Dragon's effect on renal tubular epithelial cell apoptosis and cell programmability. Unilateral ureteral obstruction (UUO) was surgically induced in rats to establish a model of renal interstitial fibrosis (RIF). The rats were then treated with curcumin. Curcumin prominently decreased the serum creatinine (SCr) and blood urea nitrogen (BUN) levels, and also improved the tubular injury in the UUO-induced rats. Curcumin significantly downregulated the TGF-β1, P-Smad2/3, cleaved caspase-3, cleaved caspase-8 and Dragon levels. Dragon knockdown also markedly reduced the TGF-β1, P-Smad2/3, Smad2/3, cleaved caspase-3, cleaved caspase-8, fibronectin, collagen I, collagen IV, vimentin, and α-SMA expression levels. Conversely, Dragon overexpression caused higher expression levels of these proteins, and curcumin reversed this effect. Furthermore, Dragon knockdown increased the E-cadherin levels, whereas Dragon overexpression decreased these levels. Overexpressing Dragon significantly decreased the cell viability, and curcumin reversed this effect. In conclusion, curcumin acted on Dragon and attenuated RIF in UUO rat models. Curcumin downregulated the TGF-β1/Smad signaling pathway and inhibited Dragon and fibrogenic molecules in both rats and HK-2 cells.

The diagnosis of retinal dystrophies can be challenging due to the spectrum of protean phenotypic manifestations. This study employed trio-whole-exome sequencing (trio-WES) to unveil the genetic cause of an inherited retinal disorder in a south Indian family.

Proband's initial ophthalmic examinations was performed in the year 2016. WES was performed on a proband-parent trio to identify causative mutation followed by Sanger validation, segregation analysis, sequence and structure-based computational analysis to assess its pathogenicity. Based on the genetic findings, detailed clinical reassessments were performed in year 2020 for the proband and available family members.

WES revealed a novel homozygous

mutation c.G310A (p.D104N) in the proband and heterozygous for the parents, indicating autosomal recessive inheritance. Segregation analysis showed heterozygous mutation in maternal grandfather and normal genotype for younger brother and maternal grandmother. Moreover, the structure-based analysis revealed the mutation p.D104N in the cytoplasmic domain, causing structural hindrance by altering hydrogen bonds and destabilizing the BEST1 protein structure. Proband's clinical assessments were consistent with autosomal recessive bestrophinopathy (ARB) phenotype. Additionally, characteristic absent light rise and decreased light peak-to-dark trough ratio (LPDT) was observed bilaterally in EOG.

Our study demonstrates the utility of WES and clinical re-evaluations in establishing the precise diagnosis of autosomal recessive bestrophinopathy associated with a novel mutation, thus expanding the

-related mutation spectrum.

Our study demonstrates the utility of WES and clinical re-evaluations in establishing the precise diagnosis of autosomal recessive bestrophinopathy associated with a novel mutation, thus expanding the BEST1-related mutation spectrum.Background Lack of standardization in CT protocol choice contributes to radiation dose variation. Purpose To create a framework to assess radiation doses within broad CT categories defined according to body region and clinical imaging indication and to cluster indications according to the dose required for sufficient image quality. Materials and Methods This was a retrospective study using Digital Imaging and Communications in Medicine metadata. CT examinations in adults from January 1, 2016 to December 31, 2019 from the University of California San Francisco International CT Dose Registry were grouped into 19 categories according to body region and required radiation dose levels. Five body regions had a single dose range (ie, extremities, neck, thoracolumbar spine, combined chest and abdomen, and combined thoracolumbar spine). Five additional regions were subdivided according to dose. Head, chest, cardiac, and abdomen each had low, routine, and high dose categories; combined head and neck had routine and hig P less then .001). Conclusion Broad categories based on image quality requirements are a suitable framework for simplifying radiation dose assessment, according to expected variation between and within categories. © RSNA, 2021 See also the editorial by Mahesh in this issue.Background Patients with recurrent glioblastoma (GBM) are often treated with antiangiogenic agents, such as bevacizumab (BEV). Despite therapeutic promise, conventional MRI methods fail to help determine which patients may not benefit from this treatment. Purpose To use MR spectroscopic imaging (MRSI) with intermediate and short echo time to measure corrected myo-inositol (mI)normalized by contralateral creatine (hereafter, mI/c-Cr) in participants with recurrent GBM treated with BEV and to investigate whether such measurements can help predict survivorship before BEV initiation (baseline) and at 1 day, 4 weeks, and 8 weeks thereafter. Materials and Methods In this prospective longitudinal study (2016-2020), spectroscopic data on mI-a glial marker and osmoregulator within the brain-normalized by contralateral creatine in the intratumoral, contralateral, and peritumoral volumes of patients with recurrent GBM were evaluated. Area under the receiver operating characteristic curve (AUC) was calculated for all volmalized by contralateral creatine within intratumoral, contralateral, and peritumoral volumes were predictive of poor survivorship and antiangiogenic treatment failure as early as before bevacizumab treatment. Adapting MR spectroscopic imaging alongside conventional MRI modalities conveys critical information regarding the biologic characteristics of tumors to help better treat individuals with recurrent glioblastoma. Clinical trial registration no. NCT02843230 © RSNA, 2021 Online supplemental material is available for this article.Background Chimeric antigen receptor (CAR) T-cell immunotherapy is increasingly used for refractory lymphoma but may lead to cytokine release syndrome (CRS) and immune effector cell-associated neurotoxicity syndrome (ICANS). Imaging may assist in clinical management. Associations between CRS or ICANS grade and imaging findings remain not fully established. Purpose To determine associations between imaging findings and clinical grade of CRS or ICANS, evaluate response patterns, and assess imaging use following CAR T-cell treatment. Materials and Methods Patients with refractory B-cell lymphoma who received CAR T-cell infusion between 2018 and 2020 at a single center were analyzed retrospectively. learn more Clinical CRS or ICANS toxicity grade was assessed using American Society for Transplantation and Cellular Therapy, or ASTCT, consensus grading. Thoracic and head images (radiographs, CT scans, MRI scans) were evaluated. Associations between imaging findings and clinical CRS or ICANS grade were analyzed. Wilcoxon signed-rank and χ2 tests were used to assess associations between thoracic imaging findings, clinical CRS toxicity grade, and imaging-based response.