The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond-Blackfan anemia

Diamond-Blackfan anemia (DBA) is a heterogeneous genetic disorder characterized by red cell aplasia and congenital anomalies. One of what appears to be multiple DBA genes has been cloned. Affected individuals in the same family may vary dramatically as to the degree of anemia, response to corticosteroids, and the presence of congenital anomalies. The epidemiology of DBA has been gleaned largely from literature reviews. This approach is limited because of the two-fold disadvantage of the reporting bias inherent in the literature and the lack of an active patient database. The Diamond Blackfan Anemia Registry of North America (DBAR) is designed to overcome these disadvantages to study the epidemiology and biology of DBA. The DBAR is a comprehensive database of patients with DBA who are enrolled after informed consent is obtained. Identification of patients is made through outreach to pediatric and adult hematologists and the Diamond Blackfan Anemia Foundation. The patients and/or their families complete a detailed questionnaire. A review of medical records and telephone interviews are performed to complete and clarify the information provided. To date, 354 patients have been enrolled in the DBAR. Using this database, important epidemiologic, clinical, and laboratory observations have been made with regard to the clinical presentation, the inheritance of DBA, the genetics of congenital malformations, the therapeutic outcome, including the efficacy of hematopoietic stem cell transplantation, and the recognition of DBA as a cancer predisposition syndrome. In particular, the database is an essential substrate for DBA gene discovery.     

Osteogenic sarcoma associated with Diamond-Blackfan anemia: a report from the Diamond-Blackfan Anemia Registry

PURPOSE: Diamond-Blackfan anemia (DBA) is a congenital pure red cell aplasia, usually presenting in infancy or early childhood. A review of the literature strongly supports a predisposition to hematopoietic malignancy. Recently, solid tumors have been reported, some attributable to hemosiderosis and/or androgen therapy. Two cases of osteogenic sarcoma have also been documented. An analysis from the Diamond-Blackfan Anemia Registry was performed to evaluate the cancer risk in patients with DBA. METHODS: The Diamond-Blackfan Anemia Registry of North America (DBAR) is a comprehensive database of patients with DBA enrolled, after informed consent, through outreach to pediatric hematologists and family groups. The patients and/or their families complete a detailed questionnaire, and a review of medical records and telephone interviews are performed to complete and clarify the information provided. RESULTS: Of the 354 patients registered in the DBAR, there were six patients meeting the accepted diagnostic criteria for DBA who were found to have malignancies. Three patients had osteogenic sarcoma diagnosed, one with myelodysplastic syndrome, one with colon carcinoma, and one with a soft tissue sarcoma. CONCLUSION: There appears to be an association of osteogenic sarcoma with DBA. A young age at presentation may be a feature of DBA-associated osteogenic sarcoma. Because of the immaturity of the database, the actuarial risk for osteogenic sarcoma and other cancers in individuals with DBA cannot be ascertained. Speculation is made regarding the nature of the molecular defect leading to the association of DBA and osteogenic sarcoma.     

Ovarian tumors in young females. A laparoscopic approach

Ovarian tumors are one of the major preoccupations in the everyday practice of gynecology. During the period January 1997 through December 2000, 54 cases of ovarian tumors in young females aged 14-20 years were diagnosed and managed laparoscopically in our institution. Twenty-two cases of mature cystic teratoma, 12 cases of endometriosis, eight cases of serous cystadenoma, five cases of mucinous cystadenoma, three cases of fibroma-thecoma, two cases of serous low-malignant tumors and one case of mucinous low-malignant tumor were found. The management of ovarian tumors during this age by laparoscopic techniques represents an efficient and safe procedure.     

Paraquat poisoning in a family

A familial occurrence of acute paraquat (PQ) poisoning is reported. The mother administered a PQ solution to their 3 children aged 8 y, 6 y and 15 mo and then ingested an unknown amount of the herbicide herself. In the absence of history or diagnostic signs, the poisoning was initially misdiagnosed as gastroenteritis. Thirty h after the ingestions, serum PQ concentrations of the children were 60, <6 and 25 ng/ml respectively. Hemoperfusion was performed on all patients, and 2 of the children also received plasmapheresis and erythropheresis. The 3 children recovered fully but the mother died. According to these patients' data, the extracorporeal techniques had little effect on PQ removal, and the decreases in serum PQ were related to its urinary excretion.     

Dosimetry comparison of 192Ir sources

192Ir sources besides being widely utilized in the field of conventional brachytherapy also find use in contemporary peripheral and coronal intravascular applications. In this study, the same Monte Carlo simulation code and input data were used to investigate differences between the dose rate distributions of the most commonly used 192Ir sources in the cm and mm distance range. Findings are discussed in view of differences in source and encapsulation dimensions as well as structural details. Results are presented in the AAPM TG-43 formalism, as generalized by AAPM TG-60, for five 192Ir HDR source designs as well as an LDR seed and an LDR wire source. Dose rate constants of the sources at r0 = 1 cm and r0 = 2 mm were found proportional to the corresponding geometry factors along the transverse source bisectors and an equation of the form lambda r0(cGyh(-1) U(-1)) = 1.12 x G(r0,90 degrees) provides results within clinical accuracy (less than 2%) for any 192Ir source. Radial dose functions do not depend significantly on source and encapsulation geometry and agree within 2% with that of a point 192Ir source. Anisotropy is of importance for accurate dosimetry at the cm distance range but it does not affect dose rate in the mm distance range significantly. At such short radial distances the source geometry factor defines the shape of isodose lines. Dose uniformity at given distances from the sources is strongly dependent on source dimensions as indicated by dose rate profiles in polar and Cartesian coordinates.     

Resuscitation outcomes comparing year 2000 with year 2005 ALS guidelines in a pig model of cardiac arrest

BACKGROUND: Ventricular fibrillation remains the leading cause of death in western societies. International organizations publish guidelines to follow in case of cardiac arrest. The aim of the present study is to assess whether the newly published guidelines record similar resuscitation success with the 2000 Advanced Life Support Guidelines on Resuscitation in a swine model of cardiac arrest. METHODS AND RESULTS: Nineteen landrace/large white pigs were used. Ventricular fibrillation was induced with the use of a transvenous pacing wire inserted into the right ventricle. The animals were randomized into two groups. In Group A, 10 animals were resuscitated using the 2000 guidelines, whereas in Group B, 9 animals were resuscitated using the 2005 guidelines. Both algorithms recorded similar successful resuscitation rates, as 60% of the animals in Group A and 44.5% in Group B were successfully resuscitated. However, animals in Group A restored a rhythm, compatible with a pulse, quicker than those in Group B (p=0.002). Coronary perfusion pressure (CPP) was not adversely affected by three defibrillation attempts in Group A. CONCLUSIONS: Both algorithms' resulted in comparable resuscitation success, however, guidelines 2000 resulted in faster resuscitation times. These preliminary results merit further investigation.