Prenatally diagnosed case of 22q11.2 deletion syndrome associated with pulmonary artery aneurysm

Here, we report a new case with chromosome 22q11 deletion and cardiac anomaly diagnosed prenatally by echocardiography. Fluorescence in situ hybridization (FISH) analysis demonstrated a heterozygous deletion at 22q11.2. Echocardiography revealed ventricular septal defect, pulmonary atresia, and aneurysm of the main pulmonary artery and its branches. Pulmonary artery aneurysm (PAA) is rarely seen in patients with 22q11.2 deletion syndrome (22qDS). In this case, PAA was found by prenatal echocardiographic examination at the 25th week of gestation. To date, no prenatally diagnosed case of 22qDS with PAA has been reported. This is the first 22qDS case with PAA that was detected prenatally by FISH analysis

Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants.

Gamma-aminobutyric acid (GABA) and glutamate are the most abundant amino acid neurotransmitters in the brain. GABA, an inhibitory neurotransmitter, is synthesized by glutamic acid decarboxylase (GAD). Its predominant isoform GAD67, contributes up to ∼90% of base-level GABA in the CNS, and is encoded by the GAD1 gene. Disruption of GAD1 results in an imbalance of inhibitory and excitatory neurotransmitters, and as Gad1-/- mice die neonatally of severe cleft palate, it has not been possible to determine any potential neurological dysfunction. Furthermore, little is known about the consequence of GAD1 disruption in humans. Here we present six affected individuals from six unrelated families, carrying bi-allelic GAD1 variants, presenting with developmental and epileptic encephalopathy, characterized by early-infantile onset epilepsy and hypotonia with additional variable non-CNS manifestations such as skeletal abnormalities, dysmorphic features and cleft palate. Our findings highlight an important role for GAD1 in seizure induction, neuronal and extraneuronal development, and introduce GAD1 as a new gene associated with developmental and epileptic encephalopathy

Experimental characterization and morphology investigation of composites based on high-density and low-density polyethylene reinforced with non-crimp-stitched glass fabrics

In this study, the effects of matrix material on mechanical properties were investigated in glass fiber reinforced high-density and low-density polyethylene composites. Also, in order to compare the fiber configuration effect on anisotropic behavior, unidirectional and biaxial glass fabrics were used as reinforcement material. Composite laminates were manufactured via the compression molding technique. Tensile and three-point bending flexural tests were conducted up to failure on specimens cut out in different directions. Extensive fracture photomicrographs were presented for observing the failure modes (e.g. delamination) of the composites resulting from a variety of loading conditions. In addition, Scanning electron micrographs of postfractured surfaces of composites were interpreted in an attempt to explain the failure mechanisms (adhesive or cohesive failure) of the composites