ABSTRACT
Diamond-Blackfan anemia (DBA) is a rare and inherited form of erythroid aplasia, characterized by severe macrocytic anemia, congenital malformations, and predisposition to cancer. The purpose of this study is to determine the congenital abnormalities and dysmorphological features of DBA patients in a cross-sectional manner. The study group included patients who had diagnosis of DBA between 1983 and 2017. Dysmorphological examinations of the patients were performed by an experienced dysmorphologist and also echocardiography and abdominal ultrasonography were performed in order to figure out cardiac and urogenital abnormalities. A total of 45 patients were examined in this study. Dysmorphological examination, echocardiography, and abdominal ultrasonography revealed the rate of congenital abnormalities as high as 88.7%. In consideration of the congenital abnormalities, the most common findings were craniofacial, followed by skeletal abnormalities. The rate of anomalies was found higher in our series of patients than that have been previously reported, most probably due to the evaluations being performed by a dysmorphologist in our cohort and not only depending on patient records or hematologists' physical examination.
ABSTRACT
Objective: This study examines the prognostic factors and outcomes of Turkish children with newly diagnosed acute lymphoblastic leukemia (ALL) who were treated with Modified St. Jude Total XV Protocol, which was modified by adding high-dose methylprednisolone (HDMP) before induction in the original protocol. Materials and Methods: A cohort of 183 newly diagnosed ALL patients aged 1-18 years received Modified St. Jude Total XV Therapy between January 1, 2008 and January 30, 2016. HDMP was administered for 7 days, with randomized doses at 10 or 20 mg/kg/d, tapered during the subsequent 7 days to 5 and 10 mg/kg/d, followed by 2 mg/kg/d for 2 weeks. Absolute blast count in peripheral blood and minimal residual disease (MRD) in bone marrow were assesses at the end of the initial HDMP treatment (Day 7). MRD in the bone marrow was measured on day 15 and at the end of the induction period. These patients were followed until July 15, 2019. Results: The five-year event-free (EFS) and overall survival (OAS) rates for all patients were 85.6±2.6% and 89.2±2.3%, respectively. The steroid good responder rate (<1 000/mm3 absolute blast count in peripheral blood on Day 7) was 88%, with 97% of children achieving complete remission post-induction. No significant differences were observed between the two groups in survival rate and infection frequency. EFS and OAS correlated with initial leukocyte count, age 10-18 years at diagnosis, CD20 positivity at diagnosis, and gram-negative bacterial infection during remission induction. Conclusion: The notable response rates on day 7 and 15, along with encouraging EFS and OAS outcomes with Modified St. Jude Total XV in childhood ALL patients underscore the early and high response effect of HDMP. Short-term HDMP can be initiated at the onset of induction, administered at 10 mg/kg/day for the initial 7 days, aiming to minimize potential side effects.