Bushgarza6054

Pathogenic variants in ZMYND11, which acts as a transcriptional repressor, have been associated with intellectual disability, behavioral abnormalities, and seizures. Only 11 affected individuals have been reported to date, and the phenotype associated with pathogenic variants in this gene have not been fully defined. Here, we present 16 additional patients with predicted pathogenic heterozygous variants in including four individuals from the same family, to further delineate and expand the genotypic and phenotypic spectrum of ZMYND11-related syndromic intellectual disability. The associated phenotype includes developmental delay, particularly affecting speech, mild-moderate intellectual disability, significant behavioral abnormalities, seizures, and hypotonia. There are subtle shared dysmorphic features, including prominent eyelashes and eyebrows, a depressed nasal bridge with bulbous nasal tip, anteverted nares, thin vermilion of the upper lip, and wide mouth. Novel features include brachydactyly and tooth enamel hypoplasia. Most identified variants are likely to result in premature truncation and/or nonsense-mediated decay. Two ZMYND11 variants located in the final exon-p.(Gln586*) (likely escaping nonsense-mediated decay) and p.(Cys574Arg)-are predicted to disrupt the MYND-type zinc-finger motif and likely interfere with binding to its interaction partners. selleck chemicals Hence, the homogeneous phenotype likely results from a common mechanism of loss-of-function. © 2020 Wiley Periodicals, Inc.Aqueous batteries could be potentially used for grid-scale energy storage owing to the use of nonflammable electrolytes and long cycle life. Recently, quinones have shown examples as redox-active materials in aqueous batteries under either strong acidic or basic conditions. However, a quinone-based battery with a less corrosive electrolyte is still rare. Given that quinone-based batteries are heavily influenced by the pH of electrolytes, we studied the influence of acid dissociation constants (pKa) of hydroquinones on their performance as solid electrode materials. We measured the pKa of anthracene-9,10-diol (AQH2 ) and benzo[1,2-b4,5-b']dithiophene-4,8-diol (BDTDH2 ) from the Pourbaix diagrams of two para-quinone monomers [i.e., anthracene-9,10-dione (AQ) and benzo[1,2-b4,5-b']dithiophene-4,8-dione (BDTD)]. Subsequently, their polymeric forms [i.e., poly(anthraquinonyl sulfide) (PAQS) and poly(benzo[1,2-b4,5-b']dithiophene-4,8-dione-2,6-diyl sulfide) (PBDTDS)] were investigated as electrodes in aqueous lithium-ion cells. At pH 13, PAQS demonstrates a low capacity and poor cycle life, whereas PBDTDS shows a capacity of 196 mAh g-1 and fade rates of 0.0038 % per cycle over 4200 cycles, 0.77 % per day over 21 days. The differences in capacity and cycle stability can be explained by the difference of corresponding pKa values. A full cell with the configuration of (-)PBDTDS|2.5 m Li2 SO4 (pH 13)|LiCoO2 (+) shows a voltage of 1.08 V, a capacity of 72 mAh g-1 and ≈99.9 % of Coulombic efficiency for 500 stable cycles. © 2020 Wiley-VCH Verlag GmbH & Co. KGaA, Weinheim.INTRODUCTION Separation anxiety disorder (SAD) comprises one aspect of attachment dysregulation or insecurity. Although SAD aggravates posttraumatic stress disorder (PTSD) risk, no clinical research has tracked how many patients with PTSD have SAD, its clinical associations, or its response to PTSD treatment. Our open trial of interpersonal psychotherapy (IPT) for veterans with PTSD assessed these SAD domains. METHODS Twenty-nine veterans diagnosed with chronic PTSD on the Clinician-Administered PTSD Scale were assessed for SAD using the Structured Clinical Interview for Separation Anxiety Symptoms (SCI-SAS), and for Symptom-Specific Reflective Function (SSRF), another dysregulated-attachment marker capturing patients' emotional understanding of their symptoms. Patients received 14 IPT sessions for PTSD with assessments at baseline, Week 4 (SCI-SAS and SSRF), and termination for SAD, PTSD, and depression. RESULTS At baseline, 69% of patients met SAD criteria. Separation anxiety did not correlate with baseline PTSD severity, depressive severity, or age when traumatized; patients with and without SAD had comparable PTSD and depression severity. Patients with baseline comorbid SAD who completed IPT (N = 17) reported significantly improved adult separation anxiety (p = .009). Adult SAD improvements predicted depressive improvement (p = .049). Patients with SAD showed a stronger relationship between early SSRF gains and subsequent adult SAD improvement (p = .021) compared with patients without SAD. DISCUSSION This first exploration of dysregulated/insecure attachment features among patients with PTSD found high SAD comorbidity and adult SAD improvement among patients with SAD following IPT. Highly impaired attachment patients normalized attachment posttreatment 14-session IPT improved attachment dysregulation. This small study requires replication but begins to broaden clinical understanding of separation anxiety, attachment dysregulation, and PTSD. © 2020 Wiley Periodicals, Inc.BACKGROUND Medications that are used for treatment of metabolic disorders have been suggested to be associated with the development of amyotrophic lateral sclerosis (ALS). METHODS To examine the associations of antidiabetics and statins with the subsequent risk of ALS we conducted a population-based nested case-control study of 2475 Swedish residents diagnosed with ALS during July 2006 to December 2013 and 12 375 population controls (five for each ALS case). We extracted information on filled prescriptions of antidiabetics and statins for both cases and controls from the Swedish Prescribed Drug Register during the years before ALS diagnosis. Conditional logistic regression was used to calculate odds ratios (ORs) for the associations of these medications with ALS risk. RESULTS Patients with ALS were less likely to have been prescribed with antidiabetics compared with controls [OR, 0.76; 95% confidence intervals (CI), 0.65-0.90]. Conversely, statins were not associated with ALS risk overall (OR, 1.08; 95% CI, 0.