Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect

Autosomal recessive congenital ichthyosis (ARCI) is a group of rare non-syndrome diseases that affect cornification. PNPLA1 is one of the 12 related genes identified so far. Mutation screening of this gene has resulted in the identification of 13 individuals, from 10 families, who carried 7 different PNPLA1 mutations. These mutations included 2 missense, 2 frame­shift and 3 nonsense, 3 of them being novel. One of the identified variants, c.417_418delinsTC, was highly prevalent, as it was found in 6 out of 10 (60%) of our ARCI families with PNPLA1 mutations. Clinical manifestations varied significantly among patients, but altered sweating; erythema, palmar hyperlinearity and small whitish scales in flexor-extensor and facial areas were common symptoms. Haplotype analyses of c.417_418delinsTC carriers confirmed the existence of a common ancestor. This study expands the spectrum of the PNPLA1 disease, which causes variants and demonstrates that the c.417_418delinsTC mutation has founder effects in the Spanish population.This work was partially supported by Ramón Areces Foundation project (Rare Diseases 2013-056); by Spanish Instituto de Salud Carlos III (ISCIII) (INT15/00070, INT16/00154, INT17/00133) and by Xunta de Galicia (IN607B). UE was supported by a predoctoral fellowship from Xunta de GaliciaS

ANALYSIS OF PROCUREMENT PROCESSES AND VOLUMES

Purchasing has started to gain a bigger role as time has gone by, and many studies have proved that purchasing has a major role in a company’s profits and competencies. The procurement in Vapo Group is organized and depending on the business activity or purchasing type, the purchasing responsibilities are divided. The biggest needs and potential for cost savings were found under the biofuels business area. The main objective of the Vapo Oy Biofuels project was to determine and deploy the centralized purchasing model for Finland’s biofuels. The aim was to provide information and support to the ongoing project by mapping out the current state of biofuels purchases by collecting and analyzing the data from Vapo’s databases. The method of quantitative research was mostly used and interviews were conducted with three Vapo Oy employees. The data was collected from Vapo’s databases to map out the current state of purchases, and the interviews were conducted in order to find out the purchasing processes. As a result of this study, different improvement ideas and recommendations were presented. In addition, it was found out that Vapo needs to develop a more aligned strategic approach to purchasing in the Biofuels business area in order to prosper.Hankintojen osuus yritysten liiketoiminnasta on kasvanut viime aikoina ja monet tutkimukset ovat todistaneet, että hankinnalla on suuri merkitys yhtiön kilpailukyvylle. Vapo konsernin hankintatoimi on organisoitua ja vastuu hankinnoista on hajautettu eri tavoilla liiketoiminnasta ja hankinnan kohteesta riippuen. Suurimmat tarpeet ja mahdollisuudet hankintatoimen kehittämiselle löytyvät Vapon biopolttoaineliiketoiminnasta. Vapon hankintojen kehittämisen projektin päätavoite oli biopolttoaineliiketoiminnan keskitetyn hankintatoimen toimintamallin määrittely ja jalkautus. Opinnäytetyön tavoite oli tarjota tietoa ja tukea meneillään olevalle projektille kartoittamalla biopolttoaineiden hankintojen nykytilanne keräämällä ja analysoimalla tietoja Vapon tietokannasta. Opinnäytetyössä käytetään suurimmaksi osaksi kvantitatiivista tutkimusta, mutta myös kolmea Vapon työntekijää haastateltiin. Tiedot kerättiin Vapon tietokannoista, jotta hankintojen nykytilanne saatiin kartoitetuksi ja haastattelut suoritettiin, jotta hankintaprosessit saatiin avatuksi. Tutkimuksen tuloksena esitetään parannusideoita ja suosituksia hankintatoimen kehittämiseksi. Vapon menestymisen kannalta on oleellista muokata biopolttoaineliiketoiminnan hankintoja enemmän strategisesti yhtenäiseksi