Validation of a Fast, Robust, Inexpensive, Two-Tiered Neonatal Screening Test algorithm on Dried Blood Spots for Spinal Muscular Atrophy.

Spinal muscular atrophy (SMA) is one of the leading genetic causes of infant mortality with an incidence of 1:10,000. The recently-introduced antisense oligonucleotide treatment improves the outcome of this disease, in particular when applied at an early stage of progression. The genetic cause of SMA is, in >95% of cases, a homozygous deletion of the survival motor neuron 1 () gene, which makes the low-cost detection of SMA cases as part of newborn screening programs feasible.

Can the Afinion HbA1c Point-of-Care instrument be an alternative method for the Tosoh G8 in the case of Hb-Tacoma?

Background: Hb-variant interference when reporting HbA1c has been an ongoing challenge since HbA1c was introduced to monitor patients with diabetes mellitus. Most Hb-variants show an abnormal chromatogram when cation-exchange HPLC is used for the determination of HbA1c. Unfortunately, the Tosoh G8 generates what appears to be normal chromatogram in the presence of Hb-Tacoma, yielding a falsely high HbA1c value.

Adult-onset congenital thrombotic thrombocytopenic purpura caused by a novel compound heterozygous mutation of the ADAMTS13 gene.

Thrombotic thrombocytopenic purpura (TTP) is a life-threatening disease, characterized by microangiopathic hemolytic anaemia and thrombocytopenia, resulting in neurologic and/or renal abnormalities. We report a 49-year-old patient with a history of thrombotic events, renal failure, and thrombocytopenia. Blood analysis demonstrated no ADAMTS13 activity in the absence of antibodies against ADAMTS13.

ZAP70 in B-CLL cells related to the expression in NK cells is a surrogate marker for mutational status.

The strongest prognostic factor in chronic B-cell lymphocytic leukemia (CLL) is the mutational status of the immunoglobulin heavy chain variable region (IGHV) genes. Determination of this mutational status is laborious and therefore not applied in routine diagnostics. A search for "surrogate markers" has been conducted over the past few years.

ZAP70 in B-CLL cells related to the expression in NK cells is a surrogate marker for mutational status.

The strongest prognostic factor in chronic B-cell lymphocytic leukaemia (CLL) is the mutational status of the immunoglobulin heavy chain variable region (IGHV) genes. Determination of this mutational status is laborious and therefore not applied in routine diagnostics. A search for 'surrogate markers' has been conducted over the past few years.

Novel molecular defect in the platelet ADP receptor P2Y12 of a patient with haemorrhagic diathesis.

Background: The platelet adenosine 5'-diphosphate (ADP) receptor P2Y(12) plays a crucial role in haemostasis. Only a few patients with haemorrhagic diathesis due to molecular defects in the P2Y(12) receptor have been described so far. We report a novel molecular defect in the gene coding for P2Y(12) in a patient with a history of epistaxis, easy bruising and excessive posttraumatic blood loss.