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Accurate diagnosis of rare inherited anaemias is challenging, requiring a series of complex and expensive laboratory tests. Targeted next-generation-sequencing (NGS) has been used to investigate these disorders, but the selection of genes on individual panels has been narrow and the validation strategies used have fallen short of the standards required for clinical use. Clinical-grade validation o
Background: Randomized controlled trials (RCTs) are considered the best methodology for studying the efficacy of psychotherapy. Optimally an RCT design makes it possible to conclude that if one treatment has a better outcomethan another, this is due to the treatment package (TP) as it was implemented in this particular context, rather than other factors beyond the treatment (= high internal validi
Background: The basal-like breast cancer (BLBC) subtype is characterized by positive staining for basal mammary epithelial cytokeratin markers, lack of hormone receptor and HER2 expression, and poor prognosis with currently no approved molecularly-targeted therapies. The oncogenic signaling pathways driving basal-like tumorigenesis are not fully elucidated. Methods: One hundred sixteen unselected
In this paper we consider the asymptotic distributions of functionals of the sample covariance matrix and the sample mean vector obtained under the assumption that the matrix of observations has a matrix variate general skew normal distribution. The central limit theorem is derived for the product of the sample covariance matrix and the sample mean vector. Moreover, we consider the product of an i
Lipases are key components in the mechanisms underlying the persistence and virulence of infections by fungi, and thus also promising triggers for bioresponsive lipid-based liquid crystalline nanoparticles. We here propose a platform in which only a minor component of the formulation is susceptible to cleavage by lipase and where hydrolysis triggers a controlled phase transition within the nanopar
14C (radiocarbon) in atmospheric CO2 is the most direct tracer for the presence of fossil-fuel-derived CO2 (CO2-ff). We demonstrate the measurement of wine ethanol as a way to determine the relative regional atmospheric CO2-ff concentration compared to a background site ("regional CO2-ff excess") for specific harvest years. The carbon in wine ethanol is directly back traceable to the atmospheric C
The differences in chromatographic behaviour of individual deoxynucleotides as well as small single-stranded and double-stranded DNA molecules have been examined for two resins from the Capto family: Capto Adhere and Capto Q ImpRes. Capto Adhere carries a multimodal ligand which combines strong anion with aromatic recognition, while Capto Q ImpRes is a strong anion exchanger with a chemically simi
This paper describes an integrated microsystem for rapid separation, enrichment, and detection of bacteria from blood, addressing the unmet clinical need for rapid sepsis diagnostics. The blood sample is first processed in an acoustophoresis chip, where red blood cells are focused to the center of the channel by an acoustic standing wave and sequentially removed. The bacteria-containing plasma pro
OBJECTIVE: To investigate whether genetic susceptibility to type 1 diabetes or maturity-onset diabetes of the young (MODY) increases susceptibility to gestational diabetes mellitus (GDM). RESEARCH DESIGN AND METHODS: We studied mutations in MODY1-4 genes, the presence of GAD antibodies, and HLA DQB1 risk genotypes in 66 Swedish women with GDM and a family history of diabetes. An oral glucose toler
BACKGROUND: It is increasingly acknowledged that satisfaction with sexual relations forms an important aspect of people's lives, but little is known of factors associated with this phenomenon among people with mental illness. AIM: This study aimed to investigate how demographic, social, clinical, and health-related factors were related to satisfaction with sexual relations. METHODS: Patients with
BACKGROUND:: Flow cytometry allows the use of several antibodies in addition to light scatter, and most flow cytometers will provide at least seven measurements on each cell passing through the laser beam. A skilled microscopist will classify at least 14 cell classes in bone marrow or blood. Our goal was to use the seven parameters available in our flow cytometer to provide a reliable differential
BACKGROUND: Higher operative risks after pneumonectomy for non-small cell lung cancer (NSCLC) have been reported after neoadjuvant chemotherapy or radiotherapy, or both. Patients who underwent pneumonectomy for NSCLC were evaluated for effect of neoadjuvant treatment on mortality and morbidity, especially bronchopleural fistula. METHODS: Between 1996 and 2003, 130 consecutive patients underwent pn
For hemophilia patients with inhibitors, immune tolerance induction (ITI) may help to restore clinical response to Factor (F) VIII or FIX concentrates. Several ITI regimens and protocols exist; however, despite 30 yr of progressive investigation, the ITI evidence base relies mainly on observational data. Expert opinion, experience, and interpretation of the available evidence are therefore valuabl
OBJECTIVE: To investigate the significance and pathogenic potential of a highly conserved major type II collagen triple-helical epitope-specific antibody (U1; amino acids 494-504) in vivo and in vitro in patients with early rheumatoid arthritis (RA) and in experimental animal models of collagen-induced arthritis (CIA). METHODS: U1-specific antibodies in sera from patients with early RA (with or wi
A method was developed for the determination of benzene in urine. The sample was pumped through the donor channel of a membrane extraction unit with a micro-porous membrane, separating the donor channel from an identical acceptor channel purged with nitrogen. The analyte reached the acceptor channel by diffusion through the membrane and was then swept by the carrier to a solid sorbent tube, where
The current article deals with the problem of distinguishing between relapse and reinfection of genital chlamydial infections due to the chronic character of such infections. The problem of detecting and treating chlamydial pelvic inflammatory disease is considered. Factors that may affect the clinical presentation of such infections, such as hormonal therapy, are also highlighted. Observations on
