Gene products mutated in the inherited bone marrow failure syndromes dyskeratosis congenita (DC), cartilage-hair hypoplasia (CHH), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SDS) are all predicted to be involved in different aspects of ribosome synthesis. At this moment, however, it is unclear whether this link indicates a causal relationship. Although defective ribosome syn...

In this issue of Blood, Dutt and colleagues address the selective effect of ribosomal protein haploinsufficiency on erythroid development observed in congenital Diamond-Blackfan anemia (DBA) and acquired 5q-syndrome. Their findings reveal a selective induction of p53 in the erythroid lineage in response to reduced expression of ribosomal proteins affected in these diseases. Moreover, the select...

Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome associated with ribosomal protein (RP) gene mutations. Recent studies have also demonstrated an increased risk of cancer predisposition among DBA patients. In this study, we report the formation of soft tissue sarcoma in the Rpl5 and Rps24 heterozygous mice. Our observation suggests that even though one wild-type allele ...

S hwachman-Diamond syndrome (SDS; OMIM 260400) is a rare autosomal recessive disorder characterized by pancreatic insufficiency, bone marrow failure, skeletal dysplasia, and short stature (1). Diabetes is a rare complication of SDS, and only a few SDS patients have been reported to develop diabetes (2–6). We report the first case of SDS with diabetes in which mutations of the SBDS gene have bee...

In this issue of Blood, Gagne et al describe a cohort of 362 patients clinically classified as having Diamond-Blackfan anemia (DBA), in which 175 (48%) were found to have mutations and deletions in ribosomal protein genes or GATA1, and 8 of the remaining patients (2.2% overall) had mitochondrial gene deletions consistent with Pearson marrow-pancreas syndrome (PS). The authors propose that all p...

Introduction: Recent developments of radiotherapy techniques, require high accuracy detectors to determine the delivered dose in a small area. Chemical vapor deposition (CVD) or naturally growth diamond detectors which are commercially available are good candidates for this purpose. In these detectors two electrodes with high different electrical potential are deposited on both...

I. August CS, King E, Githens JH, McIntosh K, Humbert JR. Greensheer A, Johnson FB: Establishment of enythropoiesis foblowing bone marrow transplantation in a patient with congenital hypoplastic anemia (Diamond-Blackfan syndrome). Blood 48:491 498, 1976 2. Reeves I, Block M, Githens J, August C: Sequential changes in bone marrow morphobogy in children undergoing bone marrow transplantation. Pro...

Inherited bone marrow failure syndromes (BMFs) comprise at least one-fourth of children with aplastic anemia, and perhaps up to 10% of adults. The most common syndrome is Fanconi's anemia (FA), with more than 1,000 reported cases. FA is autosomal recessive, with birth defects in approximately 75% of patients. It is a DNA repair syndrome, diagnosed by finding chromosomal aberrations in cells tre...

Recent experiments have shown that Landau-Majorana-Stückelberg-Zener (LMSZ) interferometry is a powerful tool for demonstrating and exploiting quantum coherence not only in atomic systems but also in a variety of solid state quantum systems such as spins in quantum dots, superconducting qubits, and nitrogen vacancy centers in diamond. In this Letter, we propose and develop a general (and, in pr...

The first part of the paper is devoted to metric characterizations of Banach spaces with no cotype and no type > 1 in terms of graphs with uniformly bounded degrees. In the second part we prove that Banach spaces containing bilipschitz images of the infinite diamond do not have the RadonNikodým property and give a new proof of the Cheeger-Kleiner result on Banach spaces containing bilipschitz i...