Isoprenoid biosynthesis and mevalonate kinase deficiency

Mevalonaat Kinase Deficiëntie (MKD) is een aangeboren ziekte geassocieerd met heftige koortsaanvallen die drie tot vier dagen aanhouden en gepaard gaan met koude rillingen, gewrichtsklachten, huiduitslag, hoofdpijn, duizeligheid, buikpijn, braken en diarree. De koortsaanvallen treden gemiddeld eens in de drie tot zes weken op zonder dat goed duidelijk is waarom. Linda Henneman toont aan dat door een tekort van bepaalde metabolieten specifieke signaaleiwitten op de verkeerde plek in de cel terechtkomen en daardoor niet meer naar behoren functioneren. Dat leidt tot koortsaanvallen

Specifications and programs for computer software validation

Three software products developed during the study are reported and include: (1) FORTRAN Automatic Code Evaluation System, (2) the Specification Language System, and (3) the Array Index Validation System

Challenges in the care for consanguineous couples: an exploratory interview study among general practitioners and midwives

<p>Abstract</p> <p>Background</p> <p>It is often suggested that an effort must be made to increase awareness among consanguineous couples of their reproductive risk, and to refer them for genetic counseling if needed. Primary care professionals are considered most appropriate for addressing the subject and identifying couples at risk during consultations in their practice. This Dutch study aims to explore the experiences, attitudes and beliefs of such professionals regarding their care for consanguineous couples.</p> <p>Methods</p> <p>Sixteen semi-structured interviews were conducted with midwives and general practitioners.</p> <p>Results</p> <p>Although most primary care professionals considered it their task to inform couples about the risks of consanguinity, during consultations the topic was generally only briefly touched upon and quickly abandoned. Important reasons for this were professionals’ beliefs about religious and social values of couples, their low perception of the couples’ reproductive risk and expected limited feasibility of referral. Feelings of embarrassment regarding addressing consanguinity did not seem to play a significant role.</p> <p>Conclusions</p> <p>Primary care professional beliefs about their clients’ religious and social values, their attitudes toward the risk, and perceived limited options for referral seem to conflict with the professional norm to address the topic of consanguinity.</p

Fortran Automatic Code Evaluation System (FACES)

Software package takes as input FORTRAN program which may contain many modules (subroutines and functions). Main parts: (1) FORTRAN front end gathers information about input program and (2) set of routines organized as diagnostic package evaluates information and prints warning messages concerning actual or potential errors

Spelling in adolescents with dyslexia: errors and modes of assessment

In this study we focused on the spelling of high-functioning students with dyslexia. We made a detailed classification of the errors in a word and sentence dictation task made by 100 students with dyslexia and 100 matched control students. All participants were in the first year of their bachelor’s studies and had Dutch as mother tongue. Three main error categories were distinguished: phonological, orthographic, and grammatical errors (on the basis of morphology and language-specific spelling rules). The results indicated that higher-education students with dyslexia made on average twice as many spelling errors as the controls, with effect sizes of d ≥ 2. When the errors were classified as phonological, orthographic, or grammatical, we found a slight dominance of phonological errors in students with dyslexia. Sentence dictation did not provide more information than word dictation in the correct classification of students with and without dyslexia