Raine's syndrome: rare disease from neurosurgical perspective.

Raine's syndrome (RS) is a rare genetic disorder. Only 25 cases are in literature. Occurs due to genetic mutation resulting in deranged bone metabolism. Few cases are reported discussing the neurosurgical ramifications of the disease. We report a child diagnosed with RS. He was presented with multisutural synostosis requiring craniofacial intervention with two vault expansions. Additionally, required VP shunt due to hydrocephalus. We consider our case unique among reports of RS, as our patient has survived for 10. He died due to valve obstruction of the VP shunt. We also present a review of relevant medical literature.

A genetic toolkit for studying transposon control in the Drosophila melanogaster ovary.

Argonaute proteins of the PIWI clade complexed with PIWI-interacting RNAs (piRNAs) protect the animal germline genome by silencing transposable elements. One of the leading experimental systems for studying piRNA biology is the Drosophila melanogaster ovary. In addition to classical mutagenesis, transgenic RNA interference (RNAi), which enables tissue-specific silencing of gene expression, plays a central role in piRNA research. Here, we establish a versatile toolkit focused on piRNA biology that combines germline transgenic RNAi, GFP marker lines for key proteins of the piRNA pathway, and reporter transgenes to establish genetic hierarchies. We compare constitutive, pan-germline RNAi with an equally potent transgenic RNAi system that is activated only after germ cell cyst formation. Stage-specific RNAi allows us to investigate the role of genes essential for germline cell survival, for example, nuclear RNA export or the SUMOylation pathway, in piRNA-dependent and independent transposon silencing. Our work forms the basis for an expandable genetic toolkit provided by the Vienna Drosophila Resource Center.

Diagnosis of Inflammatory Bowel Disease by Abdominal Ultrasound and Color Doppler Techniques.

BACKGROUND & AIMS: The utility of ultrasound and color Doppler in the diagnosis and evaluation of inflammatory bowel diseases (IBD) has not been studied enough. Therefore, the aim of the current study was to evaluate the importance of conventional abdominal ultrasound and color Doppler in diagnosing IBD and assessing disease activity. METHODS: The study was conducted at the National Hepatology and Tropical Medicine Research Institute (NHTMRI) between July 2018 and January 2019, in which 150 patients were suffering from diarrhea, dysentery, tenesmus, or rectal bleeding were evaluated by colonoscopy, high-resolution ultrasound, and color Doppler scans. RESULTS: The present study was conducted on 150 patients; 84 (56%) had ulcerative colitis (UC), 16 (10.7%) had Crohn's disease (CD), and 50 (33.3%) had normal colonoscopy results with a mean age 37.2 ± 9.059. The superior mesenteric Artery Peak Systolic Velocity (SMA-PSV) and End Diastolic Velocity (EDV) were significantly higher in both UC and CD than in the control group; however, pulsatility index (PI) was significantly higher in the control group than both UC and CD. However, there was no significant difference between UC and CD. The inferior mesenteric artery PSV and EDV were significantly higher in both UC and CD than in the control group. CONCLUSION: Doppler ultrasound findings of SMA and IMA correlate with the incidence of inflammatory bowel disease, the site of disease, and its activity.

A Heterochromatin-Specific RNA Export Pathway Facilitates piRNA Production.

PIWI-interacting RNAs (piRNAs) guide transposon silencing in animals. The 22-30 nt piRNAs are processed in the cytoplasm from long non-coding RNAs that often lack RNA processing hallmarks of export-competent transcripts. By studying how these transcripts achieve nuclear export, we uncover an RNA export pathway specific for piRNA precursors in the Drosophila germline. This pathway requires Nxf3-Nxt1, a variant of the hetero-dimeric mRNA export receptor Nxf1-Nxt1. Nxf3 interacts with UAP56, a nuclear RNA helicase essential for mRNA export, and CG13741/Bootlegger, which recruits Nxf3-Nxt1 and UAP56 to heterochromatic piRNA source loci. Upon RNA cargo binding, Nxf3 achieves nuclear export via the exportin Crm1 and accumulates together with Bootlegger in peri-nuclear nuage, suggesting that after export, Nxf3-Bootlegger delivers precursor transcripts to the piRNA processing sites. These findings indicate that the piRNA pathway bypasses nuclear RNA surveillance systems to export unprocessed transcripts to the cytoplasm, a strategy also exploited by retroviruses.

Widespread Rewiring of Genetic Networks upon Cancer Signaling Pathway Activation.

Cellular signaling networks coordinate physiological processes in all multicellular organisms. Within networks, modules switch their function to control signaling activity in response to the cellular context. However, systematic approaches to map the interplay of such modules have been lacking. Here, we generated a context-dependent genetic interaction network of a metazoan's signaling pathway. Using Wnt signaling in Drosophila as a model, we measured >290,000 double perturbations of the pathway in a baseline state, after activation by Wnt ligand or after loss of the tumor suppressor APC. We found that genetic interactions within the Wnt network globally rewired after pathway activation. We derived between-state networks that showed how genes changed their function between state-specific networks. This related pathway inhibitors across states and identified genes required for pathway activation. For instance, we predicted and confirmed the ER-resident protein Catsup to be required for ligand-mediated Wnt signaling activation. Together, state-dependent and between-state genetic interaction networks identify responsive functional modules that control cellular pathways.