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At least 775 records · Page 43Linked to original sources
PubMed1998

Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity.

Diamond-Blackfan anemia (DBA) is a rare pure red-cell hypoplasia of unknown etiology and pathogenesis. A major DBA locus has previously been localized to chromosome 19q13.2. Samples from additional families have been collected to identify key recombinations, microdeletions, and the possibility of heterogeneity for the disorder. In total, 29 multiplex DBA families and 50 families that comprise sporadic DBA cases have been analyzed with polymorphic 19q13 markers, including a newly identified short-tandem repeat in the critical gene region. The results from DNA analysis of 29 multiplex families revealed that 26 of these were consistent with a DBA gene on 19q localized to within a 4.1-cM interval restricted by loci D19S200 and D19S178; however, in three multiplex families, the DBA candidate region on 19q13 was excluded from the segregation of marker alleles. Our results suggest genetic heterogeneity for DBA, and we show that a gene region on chromosome 19q segregates with the disease in the majority of familial cases. Among the 50 families comprising sporadic DBA cases, we identified two novel and overlapping microdeletions on chromosome 19q13. In combination, the three known microdeletions associated with DBA restrict the critical gene region to approximately 1 Mb. The results indicate that a proportion of sporadic DBA cases are caused by deletions in the 19q13 region.

Chromosome Mapping↗
PubMed2001

Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7.

Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterized by exocrine pancreatic insufficiency and hematologic and skeletal abnormalities. A genomewide scan of families with SDS was terminated at approximately 50% completion, with the identification of chromosome 7 markers that showed linkage with the disease. Finer mapping revealed significant linkage across a broad interval that included the centromere. The maximum two-point LOD score was 8.7, with D7S473, at a recombination fraction of 0. The maximum multipoint LOD score was 10, in the interval between D7S499 and D7S482 (5.4 cM on the female map and 0 cM on the male map), a region delimited by recombinant events detected in affected children. Evidence from all 15 of the multiplex families analyzed provided support for the linkage, consistent with a single locus for SDS. However, the presence of several different mutations is suggested by the heterogeneity of disease-associated haplotypes in the candidate region.

Alleles↗
PubMed2005

Statistical analysis of the DIAMOND MI study by the multipole method.

We present a new method to describe the dynamics of the beat-to-beat RR time series. The classification of the phase-space plots obtained from RR time series is performed by a calculation of parameters which describe the features of the two-dimensional plot. We demonstrate that every parameter has its specific consequence on the evaluation of the state of the cardiac function. By applying the method to the DIAMOND MI study we demonstrate that these parameters have more prognostic power than previously suggested risk markers. The results suggest that the RR intervals constitute a highly complex time series which necessitates the use of refined mathematical-statistical methods in order to reveal pathologies in the heart rate.

Double-Blind Method↗
PubMed1996

Successful pregnancy following oocyte donation in a patient with Diamond-Blackfan syndrome and premature ovarian failure.

Diamond-Blackfan anaemia (DBA) is a rare congenital condition characterized by profound anaemia associated with an absence of red cell precursors on bone marrow examination. This report represents the first case of pregnancy following egg donation in a patient with DBA and premature ovarian failure. The patient was a 24 year old woman who had been diagnosed with DBA when aged 6 months. Shortly after menarche, the patient became amenorrhoeic and was diagnosed as suffering from premature ovarian failure. She was entered onto an assisted conception programme and conceived after one cycle of egg donation. The pregnancy was characterized by a gradual decline in haemoglobin concentration, reaching a low of 8.1 g/dl, necessitating a single blood transfusion at 29 weeks of gestation. The patient suffered preterm rupture of the membranes at 29 weeks gestation and was delivered by emergency Caesarean section at 30 weeks of gestation because of chorioamnionitis and breech presentation. Comparing this case with other reports of pregnancy in patients with DBA, our patient suffered a less dramatic fall in haemoglobin concentration and required only a single blood transfusion. It is suggested that because the pregnancy arose from donated genetic material, this may have conferred some protective effect.

Adult↗
PubMed1983

Diamond burr otoplasty.

We present a technique for the treatment of prominent ears using a diamond burr to produce a very natural and stable antihelical fold. Our experience in the treatment of over 43 ears over a ten-year period has been very satisfactory for both patient and surgeon. This procedure overcomes many of the shortcomings of more traditional techniques of otoplasty, including suture pull-through, widened antihelical fold, and an unpredictable, unstable result.

Ear, External↗
PubMed1983

Chronic diarrhea and neutropenia not associated with pancreatic insufficiency: a non-Shwachman-Diamond entity.

Six children with chronic diarrhea and neutropenia, initially referred for evaluation of Shwachman-Diamond syndrome, were found to have no evidence of pancreatic insufficiency. All presented in the spring with a prodromal respiratory illness. Hematologic evaluation was normal except for iron deficiency anemia and neutropenia. Small intestinal biopsies of all children showed inflammation, consistent with chronic enteritis. The children were followed until growth returned to previous percentiles. Diarrhea and neutropenia resolved by 6-month follow-up, and there was no recurrence of the neutropenia at 1 year.

Agranulocytosis↗
PubMed1995

Osteosynthetic reconstruction in a patient with Gardner-Diamond syndrome.

Based on clinical observations in one female patient who suffered from Gardner-Diamond syndrome, we noticed that surgery can be performed without any bleeding complications, although operations normally are contraindicated in persons with this condition. Additionally, a correlation seems to exist between ASS and sexual and hormonal maturity.

Autoimmune Diseases↗
PubMed1996

Diamond-Blackfan anemia. Natural history and sequelae of treatment.

To define further the natural history of treated Diamond-Blackfan anemia (DBA), a congenital anemia characterized by a paucity of erythroid precursors, we analyzed 76 patients diagnosed or followed at Children's Hospital, Boston, between 1931 and 1992. Although DBA is generally defined as macrocytic, we found that mean corpuscular volume in infants aged <5 months rarely exceeded the normal range and is of little diagnostic value. Macrocytosis in patients aged > or = 5 months was more striking. Nine of 16 patients who never received steroids experienced remissions, sometimes after years of transfusions. Thirty-one of 56 patients receiving corticosteroids responded. Of these 31, 13 experienced remissions, 11 remained steroid dependent and 7 later required transfusions. Most nonresponders maintained transfusion dependence. Patients frequently (64%) experienced treatment-related morbidity, most commonly hemosiderosis. The relative risk of leukemia was profoundly elevated (RR, 200; 95% CI, 54.5-512.1) and hematologic parameters at long-term follow-up were often abnormal. While potential responsiveness to steroids and relative ease of red cell transfusion make DBA one of the most treatable congenital marrow failure syndromes, both disease-related and treatment-related factors contributed to a limited prognosis (median survival, 38 years). Patients should be carefully monitored longitudinally for evidence of leukemia and adverse effects of therapy, and alternative treatment strategies should be considered on an individual basis.

Adolescent↗
PubMed1994

The "Diamond Head" graft for paralytic ectropion of the lower eyelid.

Traditional methods of paralytic ectropion repair fail to elevate the medial lower lid and inferior punctum into the proper position. That deficiency does not exist with relatively simple, time-proven technique we have described. A lazy trapezoidal-shaped cartilage graft attached to a fascial sling restored the lost tone and medial lid posture, thrusting the punctum back into its normal and properly functioning position. The operation takes its name from Diamond Head crater in Waikiki, Hawaii, whose silhouette resembles the required cartilage graft responsible for the correction.

Adult↗
PubMed2001

Diamond-Blackfan anemia.

Diamond-Blackfan Anemia (DBA) is a rare, congenital hypoplastic anemia often diagnosed early in infancy. A moderate to severe aregenerative anemia is found in association with erythroblastopenia in an otherwise normocellular bone marrow. In 40% of these infants with DBA, diverse developmental abnormalities are also noted. A majority of patients with DBA respond to steroid therapy. Recent molecular studies have identified mutations in the gene encoding the ribosomal protein RPS19 on chromosome 19 in 25% of patients with DBA. In another subset of patients, linkage analysis has identified another locus on chromosome 8p in association with DBA. There are, however, other cases of DBA that are linked neither to the RPS19 gene nor to the locus on 8p, implying the involvement of yet-to-be-defined genetic defects in the cause of DBA. The pathogenesis of DBA is still to be fully defined and it is anticipated that further molecular studies will lead to a better understanding of this complex disease.

Abnormalities, Multiple↗
PubMed1994

Red cell aplasia resembling Diamond-Blackfan anemia in seven children in a family.

PATIENTS AND METHODS: Seven children of the same family with a possible variant of Diamond-Blackfan anemia (DBA) are reported. Five were male siblings, and the other two were their cousins, one male and one female. All were products of consanguineous marriages of healthy parents. All cases occurred within one generation. Anemia was present at birth or shortly after birth. Hepatosplenomegaly was present in all. Four had short stature. Hematological findings included normochromic, normocytic, or macrocytic anemia, marked reticulocytopenia, with initial normal white blood cell and platelet count, and absent or markedly decreased erythroid precursors on bone marrow examination. All were treated initially with prednisolone; in one patient oxymetholone was added. RESULTS: Three children failed to respond to the initial treatment, and also failed to respond to cyclosporin A and pulse doses of methylprednisolone. Myelofibrosis occurred in two siblings, 9 and 11 years from diagnosis. In two children the disease recurred 9 and 12 years after initial diagnosis. CONCLUSIONS: Our cases point to a possible variant of DBA characterized by the presence of normochromic normocytic anemia, hepatosplenomegaly, absent skeletal malformations, and unusual long- term complications.

Child↗
PubMed2000

Diamond-Blackfan anemia.

Diamond Blackfan anemia is a rare congenital hypoplastic anemia that usually presents early in infancy. Congenital anomalies, in particular of the head and upper limbs, are present in about 25% of reported patients. The disease is characterized by a moderate to severe macrocytic anemia, occasional neutropenia or thrombocytosis, a normocellular bone marrow with erythroid hypoplasia, and an increased risk of developing leukemia. Recent genetic studies have led to the identification of mutations in the ribosomal protein RPS19 in approximately 25% of sporadic and familial cases, a second gene on chromosome 8p, and evidence for an additional locus (or loci). The pathogenesis is unknown. The majority of patients respond to prednisone, and often erythropoiesis can be maintained with low doses of the drug. Both remissions and increased resistance to steroid treatment can occur. Patients who do not respond to treatment are usually transfusion dependent, although responses to high dose steroid, androgen, and interleukin-3 have been observed. Bone marrow transplantation can be curative.

Combined Modality Therapy↗
PubMed1999

Ground-state degeneracies of Ising spin glasses on diamond hierarchical lattices.

The total number of ground states for short-range Ising spin glasses, defined on diamond hierarchical lattices of fractal dimensions d=2, 3, 4, 5, and 2.58, is estimated by means of analytic calculations (three last hierarchy levels of the d=2 lattice) and numerical simulations (lower hierarchies for d=2 and all remaining cases). It is shown that in the case of continuous probability distributions for the couplings, the number of ground states is finite in the thermodynamic limit. However, for a bimodal probability distribution (+/-J with probabilities p and 1-p, respectively), the average number of ground states is maximum for a wide range of values of p around p=1 / 2 and depends on the total number of sites at hierarchy level n, Nn. In this case, for all lattices investigated, it is shown that the ground-state degeneracy behaves like exp[h(d)Nn], in the limit Nn large, where h(d) is a positive number which depends on the lattice fractal dimension. The probability of finding frustrated cells at a given hierarchy level n, Fn(p), is calculated analytically (three last hierarchy levels for d=2 and the last hierarchy of the d=3 lattice, with 0 >1, only the last hierarchies contribute significantly to the ground-state degeneracy; such a dominant behavior becomes stronger for high fractal dimensions. The exponential increase of the number of ground states with the total number of sites is in agreement with the mean-field picture of spin glasses.

Journal Article↗
PubMed2002

Ground-state entropies of the Potts antiferromagnet on diamond hierarchical lattices.

The ground-state degeneracies of the q-state Potts antiferromagnet on general diamond hierarchical lattices are computed, for q> or =3, by means of two distinct methods. The first method, denominated the recursive approach, is based on exact recursion relations for the total number of ground states, leading to the exact ground-state entropy in the thermodynamic limit. The second method, called the factorization approach, consists in a simple approximation, where the total number of ground states is factorized as a product of the number of ground states at each hierarchy level. The factorization approach appears to be a poor approximation for small values of q, but its accuracy improves substantially as q increases, and it becomes exact in the limit q--> infinity. In spite of the fact that such a model presents no frustration, a residual entropy at zero temperature is found for all q> or =3. Similarly to what happens on Bravais lattices, the residual entropy approaches its maximum allowed value, ln q, as q increases.

Journal Article↗
PubMed2004

Phase transitions of the Ashkin-Teller model including antiferromagnetic interactions on a type of diamond hierarchical lattice.

Using the real-space renormalization-group transformation, we study the phase transitions of the Ashkin-Teller model including the antiferromagnetic interactions on a type of diamond hierarchical lattices, of which the number of bonds per branch of the generator is odd. The isotropic Ashkin-Teller model and the anisotropic one are, respectively, investigated. We find that the phase diagram, for the isotropic Ashkin-Teller model, consists of five phases, two of which are associated with the partially antiferromagnetic ordering of the system, while the phase diagram, for the anisotropic Ashkin-Teller model, contains 11 phases, six of which are related to the partially antiferromagnetic ordering of the system. The correlation length critical exponents and the crossover exponents are also calculated.

Journal Article↗
PubMed2000

Revised fine splitting of excitons in diamond

We study low-strain synthetic high pressure, high temperature diamonds by cathodoluminescence and observe novel fine structure in the free exciton and the boron-bound exciton emission. The basic spectral structure is a doublet with DeltaE approximately 11 meV common to both exciton spectra. This resolves the previously found inequivalence of free exciton ( approximately 7 meV) and bound exciton ( approximately 12 meV) fine splitting. It is argued that for a spin-orbit interaction Delta(0) much smaller than the excitonic binding ( E(X) approximately 80 meV) and the excitonic localization ( E(loc) approximately 51 meV) at the boron acceptor, the orbital momentum and the spin of the particles constituting the electron-hole pair are recoupled to form spin singlet and triplet exciton states as the elementary excitations.

Journal Article↗
PubMed2000

Structure and energy of the 90 degrees partial dislocation in diamond: a combined Ab initio and elasticity theory analysis.

The core structure and stability of the 90 degrees partial dislocation in diamond is studied within isotropic elasticity theory and ab initio total energy calculations. The double-period reconstruction is found to be more stable than the single-period reconstruction for a broad range of stress states. The analysis of the ab initio results shows further that elasticity theory is valid for dislocation spacings as small as 10-20 A, thus allowing ab initio calculations to provide reliable parameters for continuum theory analysis.

Journal Article↗
PubMed2000

Instabilities in diamond under high shear stress

We investigate, through first-principles calculations, lattice instabilities induced in diamond by the application of high shear stresses. For shear stresses as low as 95 GPa a lattice instability will occur, leading to graphitelike layered structures. This effect is highly anisotropic. The reversal of the direction of the applied shear forces may cause a change of 80 GPa in the shear stress value at which the instability develops. The same reversal also causes different bonds to be broken, resulting in a drastic change in the orientation of the resulting graphitelike structures. We also find that an additional compressive stress of 50 GPa along the (111) direction does not eliminate the shear-induced instability.

Journal Article↗