Methods for identification and quantification of bile acids are disclosed. Bile acids in plasma, serum and/or blood such as a dried blood spot are used to identify subjects with a Niemann-Pick disease. The methods include measuring levels of a bile acid, such as 3β,5α,6β-trihydroxycholanic acid, N-(3β,5α,6β-trihydroxy-cholan-24-oyl)glycine, N-(3β,5α,6β-trihydroxy-cholan-24-oyl)taurine, or a combination thereof. Detection of bile acids involve mass spectroscopy and/or a combination of mass spectroscopy and liquid chromatography such as a LC-MS/MS assay. The methods can be used with sphingomyelinase assays to detect, diagnose and differentiate between Niemann-Pick A/B and Niemann-Pick C (NPC) disease.

Disclosed herein are protocols, isolation means, and compositions of matter useful for identifying mesenchymal stem cells possessing enhanced clinical activity in treatment of autoimmune conditions, such as rheumatoid arthritis (RA). Additionally, markers associated with said enhanced mesenchymal stem cell activity against autoimmunity can be utilized to identify donors whose mesenchymal stem cells possess superior efficacy compared to mesenchymal stem cells from donors who lack said markers associated with said enhanced efficacy in treatment of autoimmunity, such as RA.

An objective of the present invention is to develop methods capable of determining the severity of neonatal hypoxic-ischemic encephalopathy and predicting prognosis after treatment by therapeutic hypothermia, conveniently and with a high predictive value. The severity of neonatal hypoxic-ischemic encephalopathy can be determined and prognosis after treatment by therapeutic hypothermia can be predicted easily based on whether or not the mass per unit volume of a soluble LOX-1 protein or a fragment thereof contained in blood collected from a subject within 6 hours after birth is equal to or higher than a specific cut-off value.

The present invention relates generally to the field of medical diagnostics, and more particularly to a method for determining a vascular endothelial growth factor-A (VEGF) isoform concentration pattern of a biological sample. A biological material is obtained from a premature infant. A VEGF isoform concentration pattern of the biological material is determined using at least a first cytokine and a second cytokine. The VEGF isoform pattern is compared to a reference VEGF isoform concentration pattern that conveys a baseline concentration of at least a first cytokine and a second cytokine. A normal VEGF isoform concentration pattern is determined when the VEGF isoform concentration pattern is within a threshold percentage of the reference VEGF isoform concentration pattern. The VEGF isoform concentration pattern conveys concentration levels of at least the first cytokine and the second cytokine. The biological material may be a blood or a fecal sample obtained from a premature infant.

The present application provides methods of treating a disease, such as Pompe disease, in a subject, comprising detecting an erythropoiesis biomarker in a sample of the subject after administration of methotrexate and a therapeutic agent to the subject, and administering further treatment with or without concurrently administering additional immune tolerance induction or immunosuppression therapy based on the level of the erythropoiesis biomarker. Further provided by the present application are methods and kits for assessing the level of immune tolerance to a therapeutic agent in a subject based on detection of an erythropoiesis biomarker after administration of methotrexate and the therapeutic agent to the subject.

The present disclosure provides methods and systems for predicting a subjects diagnostic status with respect to a disease or disorder. The method may comprise staining a tooth, hair, or nail sample of the subject to produce a stained tooth sample, analyzing a fluorescence intensity spatially across the stained tooth, hair, or nail sample, and predicting a subjects diagnostic status with respect to a disease or disorder based at least in part on the analysis of the fluorescence intensity.

The present invention provides an isolated antibody that specifically binds to HPA-1a. Also provided is a nucleic acid molecule that encodes the antibody, and compositions comprising the antibody. Also provided is a method of producing the antibody and methods and uses which employ the antibody. Also provided are therapeutic uses of the antibody, for example in the treatment or prophylaxis of fetal and neonatal alloimmune thrombocytopenia (FNAIT).

The present invention provides methods to determine whether a patient with a lysosomal storage disorder will benefit from treatment with a specific pharmacological chaperone. The present invention exemplifies an in vitro method for determining -galactosidase A responsiveness to a pharmacological chaperone such as 1-deoxygalactonojirimycin in a cell line expressing a mutant from of -galactosidase A. The invention also provides a method for diagnosing Fabry disease in patients suspected of having Fabry disease.

The present invention relates to protein kinase A (PKA) for use in diagnosing autism spectrum disorder (ASD) phenotype 1 in an ASD patient wherein PKA levels are measured in a sample of the patient and wherein ASD phenotype 1 is diagnosed if the measured levels are lower than PKA levels in an age and sex-matched control sample. Additionally, the present invention relates to PKA for use in monitoring variation in ASD severity in an ASD patient, wherein PKA levels are measured in a sample of the patient and an increase in ASD severity is characterized by a decrease of PKA levels compared to PKA levels measured in previous samples of the patient. The present invention also relates to PKA for use in monitoring efficacy of an ASD treatment in an ASD phenotype 1 patient, wherein PKA levels are measured in a sample of the patient and wherein a positive response to the ASD treatment is characterized by an increase of PKA levels in comparison to baseline PKA levels of the patient prior to treatment. Furthermore, the present invention is directed to methods of diagnosing ASD phenotype 1 as well as kits comprising means to measure PKA levels.

The present invention provides a method for the diagnosis of disorders caused by foetal alcohol syndrome, said method comprising the assaying of PLGF (placental growth factor).