miRNA-free rare pathogenic CNVs could drive toward variable CAKUT phenotypes

Introduction: Genetic studies of congenital anomalies of the kidney and urinary tract (CAKUT) have demonstrated variable penetrability and expressivity of the associated genetic defects. Previously, it was shown that deletions of 17q12 and 22q11.2 regions were specific for kidney anomalies (KA) while 16p11.2 and 1q21.1 loci showed extensive pleiotropy in CAKUT phenotypes. CNVs affecting miRNA gene dosage have been described to have functional influence on gene expression. We aimed to conduct comprehensive in silico analysis using publicly available databases to analyze miRNA content of CAKUT-associated CNVs in quoted chromosomal loci with regard to pleiotropy. Methods: Extensive literature review was conducted to collect data about pathogenic rCNVs associated with CAKUT. UCSC genome browser tool was employed for mapping miRNAs onto collected rCNV regions. Results: Analysis of CNVs in CAKUT included four studies counting more than 2500 patients. In further analysis we included 191 patients harboring pathogenic CNVs. Surprisingly, CAKUT pleiotropic regions (16p11.2, 1q21.2) did not contain any miRNA. 22q11.2 showed the densest miRNAs content (n = 21). Conclusions: Absence of miRNAs may potentially pronounce the pleiotropy of the CAKUT genetic defects, thus leading to the variety of phenotypes. Contrary, abundancy of miRNAs in 22q11.2 might be associated with reproducible phenotype, such as KA, producing the functional effect when deleted. This assumption agrees with recent results of miRNA expression variability in 22q11.2 deletion syndrome.54th European Society of Human Genetics (ESHG) Conference; August 28-31, 2021; Virtual ConferenceAbstracts from the 54th European Society of Human Genetics (ESHG) Conference: e-Poster

Molenweideplein te Lanaken (gem. Lanaken). Archeologisch vooronderzoek door middel van proefsleuven

Dit rapport werd ingediend bij het agentschap samen met een aantal afzonderlijke digitale bijlagen. Een aantal van deze bijlagen zijn niet inbegrepen in dit pdf document en zijn niet online beschikbaar. Sommige bijlagen (grondplannen, fotos, spoorbeschrijvingen, enz.) kunnen van belang zijn voor een betere lezing en interpretatie van dit rapport. Indien u deze bijlagen wenst te raadplegen kan u daarvoor contact opnemen met: [email protected]

Analisis Pilihan (Preferensi) Masyarakat terhadap Permintaan Helm di Kota Pekanbaru

This study aims to analize the demand that caused by several variables that tastet of consumers with quality, motive (style), colors, shapes, and price of the goods themselves. The study uses qualitative descriftive analysis answer get through questions naries with 100 sampels. From the research that has been done, it can be seen that the influence the choice of (prerence) communities to demand quality helmet is 24%, the price of 26%, the color by 15%, 12% shapes, while the motive (style) amounting to 23%. The servey results revealed that the helmets are more preferred by the respondent (the consumers) is a brand of GM is helmet. Then not that the price of much more desirable ranges from Rp 120,000 to Rp 154,000. While the most dominant factor that affect the choice of (preference) society to demand a helmet that is the price of the goods themselves.Keywords : Choice (Preference) Demand Helmet

STUDI DESKRIPTIF PERILAKU KONSUMEN HELM DI SURABAYA

Tujuan penilitian ini adalah untuk mengetahui bagaimana Perilaku Konsumen Helm di Surabaya. Jenis penelitian ini menggunakan 10 elemen perilaku konsumen yang meliputi: What brands they buy, Who is the buyer, Why brand they buy, Who is influence in their buying, Where they buy, When they buy, How they know about the product, How often they buy, How they evaluate it after the purchase, How they dispose after the purchase. Pada penelitian ini menggunakan teknik pengambilan sampel yaitu convenience sampling. Dengan jumlah sampel sebanyak 100 orang responden yang dipilih secara acak sesuai dengan kriteria yang telah ditentukan. Metode pengolahan data yang digunakan dalam penelitian ini adalah distribusi frekuensi, diagram pie, dan tabulasi silang. Pada hasil penelitian ini responden dengan jenis kelamin pria, usia 17-25 tahun, dengan profesi/pekerjaan sebagai mahasiswa yang paling dominan. Jenis helm Half Face dengan corak polos paling diminati. Responden membeli helm pada saat membutuhkan dengan frekuensi pembelian sebanyak 2 kali  dalam satu tahun terakhir. Semua responden mengatakan puas dan akan menyimpan/mengkoleksi helm tersebut

Antibacterial suture vs silk for the surgical removal of impacted lower third molars. A randomized clinical study

Background: The aim of this study was to evaluate the clinical and microbiological impact of an antibacterial suture (Monocryl® Plus) in the surgical removal of I3M. Material and Methods: A "split-mouth", prospective pilot clinical study was designed involving 20 patients programmed for the surgical removal of I3M. Each side was randomly sutured with Monocryl® Plus or silk suture and removed for microbiological study 72 hours and 7 days after surgery. Presence of SSI, wound bleeding and the degree of discomfort associated with each type of suture material (scored by means of a visual analog scale) were evaluated. The level of contamination of each material was observed under the scanning electron microscope. Results: Wound bleeding upon suture removing was slightly greater after 72 hours and 7 days with black silk suture, though the differences were not statistically significant (p=0.752 and p=0.113, respectively). Patient discomfort was very similar with both types of suture material (p=0.861). Only one case of SSI was recorded with black silk suture after 72 hours. Microbiologically, the antibacterial suture showed a lesser presence of microorganisms (p<0.001, at 72h and p=0.033 at 7th day, respectively). The most common bacterial species included grampositive cocci (Streptococcus viridans group, Neisseria spp., Coagulasenegative Staphylococcus and Peptostreptococcus), gramnegative cocci (Veillonella), grampositive Bacilli (Lactobacillus), and gramnegative Bacilli (Prevotella). Conclusions: The greatest antibacterial effect of Monocryl Plus suture was observed after 72 hours. According to most authors, there is no doubt that this antibacterial suture can provide little safety in the control of SSI

Современный взгляд на проблему лечения травматической отслойки тканей

The treatment of traumatic soft tissue detachments is an urgent problem for a first-level trauma hospital. This paper provides an analysis of the literature sources of the PubMed database, which are devoted to the classification, diagnosis and treatment of traumatic skin detachments. It was revealed that most of the works are publications of 1–2 clinical cases, only a few works are retrospective studies of patient groups. Currently, there is no generally accepted classification of traumatic detachment of soft tissues, due to the complexity and mosaic nature of pathoanatomical signs. According to the tactics of treatment, there is a difference in approaches for low-energy trauma (sports injury) and high-energy impact (traffic accidents, falls from a height). In the first case, the treatment methods are compression therapy, physiotherapy, and in rare cases, puncture. In the second case, puncture and drainage are the main method of treatment, and in persistent recurrent cases, chemical ablation or open surgery to excise the capsule in combination with vacuum drainage are the methods of treatment. Methods of endoscopic treatment of the walls of the detachment, ligation of the lymphatic vessels around the detachment, and the use of blockable sutures for obliteration of the detachment cavity are currently new methods of treatment, which effectiveness requires further study.Лечение  травматических  отслоек  мягких тканей  является  актуальной проблемой  для травматологического стационара  первого  уровня. В данной  работе  приводится  анализ  литературных источников базы PubMed, которые посвящены классификации, диагностике и лечению травматических отслоек покровов. Выявлено, что большинство работ — это публикации 1–2  клинических наблюдений, лишь несколько работ — это ретроспективные исследования  групп пациентов. В настоящее время отсутствует общепринятая классификация травматических отслоек мягких тканей ввиду сложности и мозаичности патоанатомических  признаков. По тактике лечения отмечается разница в подходах при травме низкой энергии (спортивная травма) и при высокой энергии воздействия (дорожно-транспортные  происшествия, падения с высоты). В первом случае методами лечения являются компрессионная  терапия, физиотерапия, в редких случаях — пункция. Во втором случае — пункция и дренирование являются основным способом лечения, а в упорных рецидивирующих случаях способами лечения выступают химическая абляция либо открытая операция по иссечению капсулы в сочетании с вакуумным дренированием. Методы эндоскопической обработки  стенок отслойки, перевязки  лимфатических сосудов вокруг отслойки и применение блокируемых  нитей для облитерации  полости отслойки в настоящее  время  являются новыми методами лечения, эффективность которых требует дальнейшего изучения

Prospectie met ingreep in de bodem aan de Bilzerbaan te Lanaken (Veldwezelt)

Dit rapport werd ingediend bij het agentschap samen met een aantal afzonderlijke digitale bijlagen. Een aantal van deze bijlagen zijn niet inbegrepen in dit pdf document en zijn niet online beschikbaar. Sommige bijlagen (grondplannen, fotos, spoorbeschrijvingen, enz.) kunnen van belang zijn voor een betere lezing en interpretatie van dit rapport. Indien u deze bijlagen wenst te raadplegen kan u daarvoor contact opnemen met: [email protected]

De nieuwe steentijd. De eerste boeren in het Land van Maas en Waal

Wetensch. publicati

Formation of intracardiac thrombus during cardiopulmonary bypass despite full heparinization and adequate activated clotting time -A case report-.

We reports a case of a newly formed thrombus in the left atrial appendage during cardiopulmonary bypass detected by transesophageal echocardiography in a patient with chronic atrial fibrillation and mitral stenosis. This case alerts the anesthesiologists of possible thrombus formation despite full heparinization during cardiac surgery and the importance of a comprehensive echocardiography examination.ope