Measurements of Radon gas Concentration in a Soil at Some Towns in Kassala State

       In this work, radon gas concentration in the soil of some towns in Kassala State in eastern Sudan was measured. To perform this task 206 soil samples were studied randomly. The study was made on: Kassala (90 soil samples), Aroma (40 soil samples), Khashm Algirba (36 soil samples) and Halfa Aljadida city (40 soil samples).  Previously calibrated dosimeters containing solid  state nuclear track detectors  SSNTDs type of CR- 39 were used. The soil- radon gas concentration obtained in Kassala town ranged from 452.10 Bq/m3 to 7766.89 Bq/m3, with an average of (2885.98±419.36) Bq/m3. In Aroma town, soil- radon gas concentration ranged from 1942.99 Bq/m3 to 5727.38 Bq/m3, with an average of (3336.89±500.99) Bq/m3. While in Khashm  Algirba  town  the  soil  radon  gas  concentration was found  to  be  in  the range  between  807.68  Bq/m3  and 5227.03 Bq/m3 with an average of (2169.00 ± 436.99) Bq/m3. In Halfa  Aljadida  the soil   -   radon   gas  concentration  values  ranged between 1023.56 Bq/m3 and 4145.05 Bq/m3, with an average of(2106.08±397.40) Bq/m3. The  minimum  average  of soil- radon    gas concentration was found  to  be  in Kassala State where the concentration is (2624.49 ± 438.69) Bq/m3. It was also found that soil- radon gas concentration increased with depth

Isomer-tagged differential-plunger measurements in proton-unbound 144Ho

The lifetime of an excited state above a weakly populated isomer in the proton-unbound odd-odd nucleus 144Ho has been measured using the recoil distance Doppler shift method. This measurement represents the first differential-plunger lifetime measurement to utilize recoil-isomer tagging. The first excited I[pi]=(10+) state above the two-quasiparticle [pi]h11/2[circle times operator][nu]h11/2(8+) isomer was determined to have a lifetime of [tau]=6(1)ps. Potential energy surface calculations, based on the configuration-constrained blocking method, predict the isomeric state to have [gamma]-soft triaxial-nuclear shape with [gamma][approximate]24. The lifetime of the (10+) state can be understood from these calculations if there is a degree of rotational alignment in this band, with the K value being lower than the bandhead spin. However, the validity of the K quantum number with large predicted triaxiality and gamma softness requires further theoretical study

Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features

Protein phosphatase 1 regulatory subunit 3F (PPP1R3F) is a member of the glycogen targeting subunits (GTSs), which belong to the large group of regulatory subunits of protein phosphatase 1 (PP1), a major eukaryotic serine/threonine protein phosphatase that regulates diverse cellular processes. Here, we describe the identification of hemizygous variants in PPP1R3F associated with a novel X-linked recessive neurodevelopmental disorder in 13 unrelated individuals. This disorder is characterized by developmental delay, mild intellectual disability, neurobehavioral issues such as autism spectrum disorder, seizures and other neurological findings including tone, gait and cerebellar abnormalities. PPP1R3F variants segregated with disease in affected hemizygous males that inherited the variants from their heterozygous carrier mothers. We show that PPP1R3F is predominantly expressed in brain astrocytes and localizes to the endoplasmic reticulum in cells. Glycogen content in PPP1R3F knockout astrocytoma cells appears to be more sensitive to fluxes in extracellular glucose levels than in wild-type cells, suggesting that PPP1R3F functions in maintaining steady brain glycogen levels under changing glucose conditions. We performed functional studies on nine of the identified variants and observed defects in PP1 binding, protein stability, subcellular localization and regulation of glycogen metabolism in most of them. Collectively, the genetic and molecular data indicate that deleterious variants in PPP1R3F are associated with a new X-linked disorder of glycogen metabolism, highlighting the critical role of GTSs in neurological development. This research expands our understanding of neurodevelopmental disorders and the role of PP1 in brain development and proper function

Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (<i>PPP1R3F</i>) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability, and autistic features

Abstract PPP1R3F (R3F) is a member of the glycogen targeting subunits (GTSs), which belong to the large group of regulatory subunits of protein phosphatase 1 (PP1), a major eukaryotic serine/threonine protein phosphatase that regulates diverse cellular processes. Here, we describe the identification of hemizygous variants in PPP1R3F associated with a novel X-linked recessive neurodevelopmental disorder in 13 unrelated individuals. This disorder is characterized by developmental delay, mild intellectual disability, neurobehavioral issues such as autism spectrum disorder, seizures, and other neurological findings including tone, gait, and cerebellar abnormalities. PPP1R3F variants segregated with disease in affected hemizygous males that inherited the variants from their heterozygous carrier mothers. We show that R3F is predominantly expressed in brain astrocytes and localizes to the endoplasmic reticulum in cells. Glycogen content in PPP1R3F knockout astrocytoma cells appears to be more sensitive to fluxes in extracellular glucose levels than in wild-type cells, suggesting that R3F functions in maintaining steady brain glycogen levels under changing glucose conditions. We performed functional studies on nine of the identified variants and observed defects in PP1 binding, protein stability, subcellular localization, and regulation of glycogen metabolism in most of them. Collectively, the genetic and molecular data indicate that deleterious variants in PPP1R3F are associated with a new X-linked disorder of glycogen metabolism, highlighting the critical role of GTSs in neurological development. This research expands our understanding of neurodevelopmental disorders and the role of PP1 in brain development and proper function.</jats:p

Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

Despite significant heritability of autism spectrum disorders (ASDs), their extreme genetic heterogeneity has proven challenging for gene discovery. Studies of primarily simplex families have implicated de novo copy number changes and point mutations, but are not optimally designed to identify inherited risk alleles. We apply whole-exome sequencing (WES) to ASD families enriched for inherited causes due to consanguinity and find familial ASD associated with biallelic mutations in disease genes (AMT, PEX7, SYNE1, VPS13B, PAH, and POMGNT1). At least some of these genes show biallelic mutations in nonconsanguineous families as well. These mutations are often only partially disabling or present atypically, with patients lacking diagnostic features of the Mendelian disorders with which these genes are classically associated. Our study shows the utility of WES for identifying specific genetic conditions not clinically suspected and the importance of partial loss of gene function in ASDs