Down Syndrome Research Today is a free monthly online journal that collates and summarizes the latest research about Down Syndrome, including details on education, symptoms, treatment, information.
Improving circulatory disturbance in transient abnormal myelopoiesis.
Koga H, Miyako K, Suga N, Hidaka T, Takahashi N
Department of Pediatrics, National Hospital Organization Beppu Medical Center, Oita, Japan. firstname.lastname@example.org
Transient abnormal myelopoiesis (TAM) in neonates with Down syndrome (DS) is characterized by circulating blast cells in the blood. TAM usually resolves spontaneously, but several studies have associated this condition with early death, focusing on the development of effective treatments. We report the case of a neonate with DS who had TAM and novel GATA1 mutation. Although the patient eventually died of hepatic failure, exchange blood transfusion and low-dose cytarabine treatment dramatically improved pulmonary hypertension and acute renal failure refractory to conventional therapy. Such a blast-reducing approach might be useful for improving circulatory disturbances in neonates with DS and TAM.
Published 26 April 2012 in J Pediatr Hematol Oncol, 34(4): e149-51.
Articles on Down Syndrome published 20 April 2012:
Down syndrome and hospitalizations due to respiratory syncytial virus: a population-based study. J Pediatr, 160(5): 827-31.e1.
Articles on Down Syndrome published 10 April 2012:
Articles on Down Syndrome published 2 April 2012:
Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18. Am J Obstet Gynecol, 206(4): 322.e1-5.
Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18. Am J Obstet Gynecol, 206(4): 319.e1-9.
Articles on Down Syndrome published 30 March 2012:
A 15q24 microdeletion in transient myeloproliferative disease (TMD) and acute megakaryoblastic leukaemia (AMKL) implicates PML and SUMO3 in the leukaemogenesis of TMD/AMKL. Br J Haematol, 157(2): 180-7.
Transient myeloproliferative disorder (TMD) of the newborn and acute megakaryoblastic leukaemia (AMKL) in children with Down syndrome (DS) represent paradigmatic models of leukaemogenesis. Chromosome 21 gene dosage effects and truncating mutations of the X-chromosomal transcription factor GATA1 synergize to trigger TMD and AMKL in most patients. Here, we report the occurrence of TMD, which spontaneously remitted and later progressed to AMKL in a patient without DS but with a distinct dysmorphic ... [Abstract] [Full-text]
Single molecule sequencing of free DNA from maternal plasma for noninvasive trisomy 21 detection. Clin Chem, 58(4): 699-706.
Children with Down syndrome have a 20- to 50-fold increased risk of acute lymphocytic or myeloid leukaemia. Whole or partial gains of chromosome 21 have been described in multiple childhood leukaemias, and have recently been reported as a likely primary event in B-precursor-acute lymphoblastic leukaemia. It is unclear which amplified gene(s) on chromosome 21 play a key role in leukaemia progression. We describe a minimal amplified segment within the so-called 'Down syndrome critical region' ... [Abstract] [Full-text]
Articles on Down Syndrome published 27 March 2012:
Long-term mechanical circulatory support of an adult patient with Down syndrome. Ann Thorac Surg, 93(4): 1305-7.
Destination therapy with the HeartMate II left-ventricular assist device (Thoratec Corp, Pleasanton, CA) was undertaken in an adult patient with Down syndrome and end-stage heart failure. The patient was bridged to the HeartMate II with extracorporeal membrane oxygenation followed by the Levitronix CentriMag (Levitronix, Waltham, MA). HeartMate II implantation was complicated by coagulopathy. The patient spent 44 postoperative days in hospital and is currently stable in the community. No ... [Abstract] [Full-text]
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