Notes

Neuromuscular and Neuroendocrinological Characteristics Linked to ZC4H2-Related Arthrogryposis Multiplex Congenita in the Sicilian Household: In a situation Document.
Autism is a heterogeneous collection of disorders with a complex molecular underpinning. Evidence from postmortem brain studies have indicated that early prenatal development may be altered in autism. Induced pluripotent stem cells (iPSCs) generated from individuals with autism with macrocephaly also indicate prenatal development as a critical period for this condition. But little is known about early altered cellular events during prenatal stages in autism.

iPSCs were generated from 9 unrelated individuals with autism without macrocephaly and with heterogeneous genetic backgrounds, and 6 typically developing control individuals. iPSCs were differentiated toward either cortical or midbrain fates. Gene expression and high throughput cellular phenotyping was used to characterize iPSCs at different stages of differentiation.

A subset of autism-iPSC cortical neurons were RNA-sequenced to reveal autism-specific signatures similar to postmortem brain studies, indicating a potential common biological mechanismm may be established at early prenatal stages.
Compulsive patterns of drug use are thought to be the consequence of drug-induced adaptations in the neural mechanisms that enable behavior to be flexible. Neuroimaging studies have found evidence of robust alterations in glutamate and dopamine receptors within brain regions that are known to be critical for decision-making processes in cocaine-dependent individuals, and these changes have been argued to be the consequence of persistent drug use. The causal relationships among drug-induced alterations, cocaine taking, and maladaptive decision-making processes, however, are difficult to establish in humans.

We assessed decision making in adult male rats using a probabilistic reversal learning task and usedpositron emission tomography with the [
C]-(+)-PHNO and [
F]FPEB radioligands to quantify regional dopamine D
and metabotropic glutamate 5 (mGlu5) receptor availability, respectively, before and after 21 days of cocaine or saline self-administration. Tests of motivation and relapse-like behaviors were also conducted.

We found that self-administration of cocaine, but not of saline, disrupted behavior in the probabilistic reversal learning task measured by selective impairments in negative-outcome updating and also increased cortical mGlu5 receptor availability following 2 weeks of forced abstinence. D
and, importantly, midbrain D
receptor availability was not altered following 2 weeks of abstinence from cocaine. Notably, the degree of the cocaine-induced increase in cortical mGlu5 receptor availability was related to the degree of disruption in negative-outcome updating.

These findings suggest that cocaine-induced changes in mGlu5 signaling may be a mechanism by which disruptions in negative-outcome updating emerge in cocaine-dependent individuals.
These findings suggest that cocaine-induced changes in mGlu5 signaling may be a mechanism by which disruptions in negative-outcome updating emerge in cocaine-dependent individuals.
Sickle cell disease is associated with frequent vaso-occlusive episode and emergency department visits. selleckchem Our group developed (1) a vaso-occlusive episode treatment algorithm based on the National Heart, Lung, and Blood Institute recommendations, and (2) a case management referral form to identify social behavioral health needs of patients with sickle cell disease in the emergency department. The aims of this project were to (1) disseminate the vaso-occlusive episode algorithm and case management referral form, and (2) to evaluate the individual provider-reported awareness, use, and preferred method of access to each tool among emergency department providers in North Carolina.

An interrupted time series analysis was used to study the impact that an educational effort had on the awareness of a sickle cell vaso-occlusive episode treatment algorithm and a case management referral form. A targeted list was developed to identify the providers working in emergency departments with the largest number of sickle celcase management referral form. However, use of these tools was found to be low as only 19% of the emergency department providers used the vaso-occlusive episode algorithm at T1 and 13% T2, while 5% of emergency department providers used the case management referral form at T1 and 6% at T2. With further education about the tools, an increase in the usage of the tools was observed T3, which was 29% for the vaso-occlusive episodes algorithm and 9% for the case management referral form. Lack of incorporation of the decision support tools into emergency department processes was observed to be an overarching barrier to dissemination of the tools identified in interviews (n= 8).

This study can be used to inform future strategies on dissemination of evidence-based tools to emergency department providers.
This study can be used to inform future strategies on dissemination of evidence-based tools to emergency department providers.
Accelerate Pheno provides rapid identification and antimicrobial susceptibility tests (ASTs) of pathogens that cause blood stream infections (BSIs). The study objective was to assess the accuracy of the Accelerate Pheno platform and its impact on antimicrobial modification in children with gram-negative BSIs.

A retrospective review was conducted of patients at a children's hospital with gram-negative BSIs from November 2018 to November 2019. Proportion of agreement between Accelerate Pheno and standard of care (SOC) was determined for organism identification (matrix-assisted laser desorption ionization time-of-flight mass spectrometry) and susceptibilities (MicroScan). Time from culture collection to Gram stain, identification and AST by the Accelerate Pheno method, and AST results by MicroScan were calculated. Antibiotic modifications and opportunities to optimize antimicrobial stewardship were recorded.

Of 115 BSIs from 90 patients, 90 monomicrobial gram-negative BSIs with an organism included on the therapy by almost 40 h for children with gram-negative BSIs. Antibiotic spectrum was increased in multiple instances, but opportunities to decrease spectrum were underused.
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