Moderate Aplastic Anemia in Children: Preliminary Outcomes for Treatment Versus Observation From a Single-Institutional Experience
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
2013; 35 (2): 148-152
Quantitative analysis of limb anomalies in CHARGE syndrome: Correlation with diagnosis and characteristic CHARGE anomalies
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2003; 123A (1): 111-121
Because of the variety of definitions used to describe moderate aplastic anemia (MAA), we review our institutional experience period with patients who met a proposed set of criteria for this disorder. On an exploratory basis, we sought to evaluate the influence of treatment with immunosuppressive therapy (IST) versus observation on long-term outcomes.Records from 1999 to 2010 were screened for patients who met the criteria for MAA: (1) bone marrow cellularity of 20% to 50%; (2) cytopenias in at least 1 cell line (absolute neutrophil count<1000/µL, hemoglobin<9 g/dL, platelet count<100,000/µL); (3) mean corpuscular volume ?90; (4) persistence >6 months; and (5) negative Fanconi studies. Data were collected for patient/disease characteristics, treatments, and outcomes.Eight patients met the criteria for MAA. Three of 8 patients received IST. Of 3 patients who received IST, complete response was observed in 2 and transfusion independence in 1, as compared with 2 of 5 and 3 of 5 in the group who were observed without IST. Median duration of follow-up was 48 months.As several patients spontaneously resolved, and none developed severe aplastic anemia, acute myelogenous leukemia, or myelodysplastic syndrome, the criteria used here may identify a group of children with favorable prognosis who can be managed supportively.
View details for DOI 10.1097/MPH.0b013e3182755f36
View details for Web of Science ID 000315357100026
View details for PubMedID 23128338
CHARGE syndrome was initially not thought to involve the limb. Several subsequent reports have shown that limb anomalies are not uncommon. To date, there have been no quantitative studies of limb anomalies in CHARGE syndrome. This study was designed to answer several questions: Do CHARGE patients with limb anomalies represent a subgroup within CHARGE syndrome? Are there correlations between certain CHARGE syndrome anomalies and limb anomalies?Are there differences between the two genders and associated limb anomalies? Are certain types of limb anomalies seen with increased frequency in CHARGE syndrome? All described patients were categorized utilizing the AI/GEN Model 2 Criteria proposed by Mitchell [1985a: J Med Syst 9:425-435]. Patients with chromosomal anomalies or familial CHARGE were excluded, as were patients with inadequate clinical descriptions, and patients in large series where individual characteristics could not be ascertained. Multivariate analysis was performed. One hundred seventy two patients with definite or probable CHARGE syndrome were analyzed. Sixty-four (37.2%) of these patients have at least one limb anomaly. Significant positive associations were seen between limb anomalies and ocular coloboma, urinary tract malformations, and genital anomalies. These associations were not significant when the definite or probable patients were analyzed separately, with the exception of genital anomalies in definite CHARGE. Gender differences were also identified. Females with tracheoesophageal fistula/esophageal atresia, or genital anomalies were more likely to have limb anomalies, while some female subgroups had positive associations between urinary tract malformations, or choanal atresia and limb anomalies. Negative associations were also seen with sensorineural hearing loss and facial paralysis. In contrast, males showed a positive association between coloboma and limb anomalies, while subgroup analysis identified positive associations with DiGeorge sequence or genital anomalies and limb anomalies. Limb anomalies are present in just over one-third of CHARGE syndrome patients. Limb anomalies are seen more frequently in association with certain CHARGE anomalies, and these associations show gender differences. There is not a common limb anomaly seen in CHARGE syndrome.
View details for DOI 10.1002/ajmg.a.20526
View details for Web of Science ID 000186239400017
View details for PubMedID 14626219