BACKGROUND Acute intermittent porphyria (AIP) is a metabolic disease with clinical manifestations that mimic other abdominal, neurologic, or mental crises. We studied the diagnostic accuracy of current laboratory tests during an acute attack and in remission. METHODS Since 1966, we have studied all known Finnish AIP patients (n = 196) and their families (n = 45) and identified the porphobilin...

reverse transcription-polymerase chain reaction to quantify mRNA expression of the androgen receptor (AR), the AR coactivator prostate derived Ets transcription factor (PDEF), NKX3.1, prostate specific antigen (PSA) and oestrogen receptorβ (ERβ ) compared with the expression of the housekeeping gene porphobilinogen deaminase (PBGD). PSA secretion from LNCaP cells was measured and protein expres...

The quantification of Bcr-Abl transcript numbers in chronic myelogenous leukemia (CML) patients described here uses simultaneous competitive PCR amplification of the target gene (Bcr-Abl) and a reference gene (porphobilinogen deaminase; Pbgd) together with a single composite competitor molecule for both targets based on heterologous sequences. Using this technique, Bcr-Abl transcript numbers co...

We have detected four different mutations in the porphobilinogen deaminase (PBGD) gene in acute intermittent porphyria (AIP) families from England, Norway, and Sweden. A splicing mutation in the first position of intron 8 (Int8 + 1) was found in a family from England and a missense mutation in exon 12 (Glu250) was detected in a Norwegian family. Two mutations were identified in Swedish families...

Using Yelp data, we built a restaurant recommendation system for individuals and groups. For each of 4.9k individual Yelp users, we create a ranking SVM model with features encompassing users’ food preferences and dietary restrictions, such as cuisine type, services o↵ered, ambience, noise level, average rating, etc. Our recommendation system for individual users achieved 72% average prediction...

The accurate measurement of mRNA expression levels is crucially dependent on the use of relevant reference genes for the normalization of data. Currently, heart failure is a serious and widespread disease, and multiple mouse models are utilized for the study of this complex disease. Although mouse models are commonly used to study cardiovascular disease, various studies have not employed the ap...

In order to maximize the production of biologically-derived chemicals, kinetic analyses are first necessary for predicting the role of enzyme components and coordinating enzymes in the same reaction system. Precorrin-2 is a key precursor of cobalamin and siroheme synthesis. In this study, we sought to optimize the concentrations of several molecules involved in precorrin-2 synthesis in vitro: p...

In collaborative play, children exhibit different levels of engagement. Some children are engaged with other children while some play alone. In this study, we investigated multimodal detection of individual levels of engagement using a ranking method and non-verbal features: turn-taking and body movement. Firstly, we automatically extracted turn-taking and body movement features in naturalistic...