Phytochemical and Bioactivity Investigations of Macfadyena unguis-cati L. (Bignoniaceae)

GC/MS of the volatile components of the aerial part of Macfadyena unguis-cati L, Fam. Bignoniaceae revealed the presence of 74 compounds, 52 (75.97%) of them were identified. The major compound was n-decane (12.21%) followed by phytol (12.19%). The saponifiable fraction of the petroleum ether extract contained 21 fatty acids identified as methyl esters. In the unsaponifiable fraction, 37 compounds (representing 93.26%) were identified. β-amyrin, squalene, β-sitosterol and 3α,5-cyclo-ergosta-7,22-dien-6-one were identified in the USM. Determination of LD50 of different extracts showed that total ethanol extract was the safest (4.9 g/kg) followed by petroleum ether extract, (4.5 g/kg) and ethyl acetate extract having the least LD50 (3.1 g/kg). The total ethanol extract was found to be the most potent as antipyretic, followed by ethyl acetate extract. The ethanol extract, as well as the coumarin containing fraction exhibited significant analgesic activity.Key words: Macfadyena unguis-cati L., Bignoniaceae, fatty acids, analgesic activity, antipyretic activity, LD50

WCDMA Multiservice Uplink Capacity of Highways Cigar-Shaped Microcells

The multiservice uplink capacity and the interference (intracellular and intercellular) statistics (mean and variance) of the sectors of cigar-shaped wideband code-division multiple access (WCDMA) microcell are studied using a model of 5 highway microcells in rural zone. The two-slope propagation loss model with lognormal shadowing is used in the analysis. The capacity and the interference statistics of the microcell are studied for different sector ranges, antenna side lobe levels, standard deviation of the power control error, breakpoint distance, and different intersites correlation coefficient. It is shown that reducing the antenna side lobe level increases the sector capacity. Also, it is shown that the sector range that gives the quasi the maximum sector capacity is in the order of 800 to 1200 m

Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy

We report an individual who presented with severe neurodevelopmental delay and an intractable infantile-onset seizure disorder. Exome sequencing identified a homozygous single nucleotide change that abolishes a splice donor site in the ARV1 gene (c.294+1G > A homozygous). This variant completely prevented splicing in minigene assays, and resulted in exon skipping and an in-frame deletion of 40 amino acids in primary human fibroblasts (NP_073623.1: p.(Lys59_Asn98del). The p.(Lys59_Asn98del) and previously reported p.(Gly189Arg) ARV1 variants were evaluated for protein expression and function. The p.(Gly189Arg) variant partially rescued the temperature-dependent growth defect in arv1Δ yeast, while p.(Lys59- Asn98del) completely failed to rescue at restrictive temperature. In contrast to wild type human ARV1, neither variant expressed detectable levels of protein in mammalian cells. Mice with a neuronal deletion of Arv1 recapitulated the human phenotype, exhibiting seizures and a severe survival defect in adulthood. Our data support ARV1 deficiency as a cause of autosomal recessive epileptic encephalopathy

Erratum: De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome (The American Journal of Human Genetics (2019) 104(3) (542–552), (S0002929719300138), (10.1016/j.ajhg.2019.01.013))

(The American Journal of Human Genetics 104, 542–552; March 7, 2019) In the original version of this article published on March 7, 2019, Łukasz Jaremko's name was unfortunately misspelled as Łukas Jaremko. It appears correctly here and online. The Journal and the authors apologize for this error

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome

Polyglutamine expansions in the transcriptional co-repressor Atrophin-1, encoded by ATN1, cause the neurodegenerative condition dentatorubral-pallidoluysian atrophy (DRPLA) via a proposed novel toxic gain of function. We present detailed phenotypic information on eight unrelated individuals who have de novo missense and insertion variants within a conserved 16-amino-acid “HX repeat” motif of ATN1. Each of the affected individuals has severe cognitive impairment and hypotonia, a recognizable facial gestalt, and variable congenital anomalies. However, they lack the progressive symptoms typical of DRPLA neurodegeneration. To distinguish this subset of affected individuals from the DRPLA diagnosis, we suggest using the term CHEDDA (congenital hypotonia, epilepsy, developmental delay, digit abnormalities) to classify the condition. CHEDDA-related variants alter the particular structural features of the HX repeat motif, suggesting that CHEDDA results from perturbation of the structural and functional integrity of the HX repeat. We found several non-homologous human genes containing similar motifs of eight to 10 HX repeat sequences, including RERE, where disruptive variants in this motif have also been linked to a separate condition that causes neurocognitive and congenital anomalies. These findings suggest that perturbation of the HX motif might explain other Mendelian human conditions