Ariadna Ayerza Casas

Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3

We think that the main interests of this study are the report of a new mutation in gene MYBPC3 as a cause of Hypertrophic cardiomyopathy (HMC), and the verification of the fact that not always is the number of mutations related to the severity of the disease.

Calidad de vida y estados crónicos de salud en supervivientes de leucemia aguda infantil

BACKGROUND Survival of childhood acute lymphoblastic leukaemia involves an increasing risk of long-term morbidities. Due to the impact of cancer treatment and comorbidities, AL survivors may experience a decrease in their health-related quality of life. OBJECTIVE We aimed to describe the long-term comorbidities, related quality of life and their development predictors in these survivors. METHODS cross-sectional study of 54 survivors aged ≥18 and who have a survival rate of more than 10 years. Quality of life was assessed by personal interview using SF-36 questionnaire. RESULTS 53.7% of AL survivors developed more than one comorbidity (24.7% hypothyroidism; 20.3% obesity; 14.8% metabolic syndrome; 18.5% subclinical cardiac dysfunction); 20.3% of them were severe. 73.3% of high-risk leukaemias and 66.6% of patients treated with radiotherapy or stem cells transplantation reported long-term comorbidity, P<.05. Global quality of live score was: 86.3 (14) (classified as very good). Patients with high-risk acute leukaemia (83.2 vs. 89.5), severe long-term comorbidities (80.4 vs. 89.7) and females (81.8 vs. 89.9), reported worse quality of life, P<.05. Physical summary score was worse in: obese (80 vs. 92) and hypothyroid (84.9 vs. 92.4) and radiotherapy-treated survivors (82.3 vs. 87.5); mental summary was worse in survivors with hypogonadism (68.2 vs. 86.3) and trasplanted patients (77.2 vs. 83.1), P<.05. CONCLUSIONS Acute leukaemia survivors reported an increase prevalence of chronic comorbidities, related to cancer-treatment. Despite a decrease in scores for certain physical or mental items, global quality of life was very good in all acute leukaemia survivors, even better than compared with the general population.

Echocardiographic evolution of left ventricular function in childhood leukemia survivors

BACKGROUND Cardiac events are the most common nonmalignant cause of death in childhood cancer survivors. This population has an increased risk of morbimortality, probably secondary to the treatment side effects. The objective was to determine the prevalence and determinants of left ventricular dysfunction in a cohort of long term childhood acute leukemia survivors treated with potentially cardiotoxic therapies. METHODS Retrospective study with at least 10 years of follow-up, diagnosed between 1999 and 2003. The reduction percentage of the fractional shortening and ejection fraction was calculated from the diagnosis to the end of treatment and 10 years after the end of treatment. The factors associated with their decrease were analyzed. RESULTS The fractional shortening and ejection fraction experienced a significant decrease 10 years after the end of treatment from 38.16 to 32 and 69.08 to 60.79, respectively. Reduction was more pronounced during the evaluation of the first year after treatment (-10.3% and -8.96%, P <0.05). Associated with high tumor risk and adjuvant treatment with hematopoietic stem cell transplantation and total body radiation. No differences were found in the total anthracycline doses received. Patients with the greatest decrease had a lower age at the time of diagnosis (mean 5.7 ± 4.5 years), 62.5% (5/8) less at 5 years, and 75% received radiotherapy and hematopoietic stem cell transplantation. CONCLUSION There is already a significant decrease in the fractional shortening and ejection fraction during the first year after the end of the treatment, which is maintained 10 years after the end of treatment. Associated with high tumor risk and with total body radiation treatment and hematopoietic stem cell transplantation.

Bloqueo auriculoventricular completo y asistolia en un niño con ataxia-telangiectasia

Ataxia-telangiectasia is a disorder characterized by cerebellar ataxia, telangiectasia, immunodeficiency, and increased predisposition to cancer susceptibility. Mutations in the ataxia telangiectasia mutated gene seem to play an important role in normal cell function and in cardiovascular remodeling. We report a case of a 14-year-old boy with ataxia-telangiectasia and high-grade B-non-Hodgkin lymphoma who remained in continuous complete remission after chemotherapy and who was admitted into our Emergency Room presenting with episodes of presyncope. At admission he presented a complete atrioventricular block that evolved into asystole and required placement of a pacemaker. Cumulative cardiotoxic drugs received were at low risk. However, it is possible that this chronic degenerative disease may affect the cardiac conduction system over time. In the reviewed literature there are no or unknown reports of ataxia-telangiectasia with malignant cardiac arrhythmias.Ataxia-telangiectasia is a disorder characterized by cerebellar ataxia, telangiectasia, immunodeficiency, and increased predisposition to cancer susceptibility. Mutations in the ataxia telangiectasia mutated gene seem to play an important role in normal cell function and in cardiovascular remodeling. We report a case of a 14-year-old boy with ataxia-telangiectasia and high-grade B-non-Hodgkin lymphoma who remained in continuous complete remission after chemotherapy and who was admitted into our Emergency Room presenting with episodes of presyncope. At admission he presented a complete atrioventricular block that evolved into asystole and required placement of a pacemaker. Cumulative cardiotoxic drugs received were at low risk. However, it is possible that this chronic degenerative disease may affect the cardiac conduction system over time. In the reviewed literature there are no or unknown reports of ataxia-telangiectasia with malignant cardiac arrhythmias.

Modificaciones en variables antropométricas, analíticas de riesgo metabólico y composición corporal en pequeños para la edad gestacional en tratamiento con hormona de crecimiento

INTRODUCTION AND OBJECTIVES Small for gestational age (SGA) children without catch-up growth can benefit from treatment with growth hormone (rhGH). However, they should be monitored very closely because they are at increased risk of metabolic syndrome. MATERIAL AND METHOD A group of 28 SGA children with a mean age of 8.79 years and undergoing treatment with rhGH were selected for evaluation. Over the course of 4 years, an annual evaluation was performed on the anthropometric variables (weight, height, body mass index [BMI], growth rate, blood pressure and waist perimeter), metabolic risk variables (glycaemia, glycosylated haemoglobin, cholesterol ratio, insulinaemia, insulin-like growth factor 1[IGF1], IGF binding protein-3 [IGFBP-3], IGF1/IGFBP3 ratio, and HOMA index), and body composition variables. RESULTS Treatment with rhGH was associated with a significant increase in height (-2.76±.11 SD to -1.53±.17 SD, P=.000), weight (-1.50±.09 SD to -1.21±.13 SD; P=.016), and growth rate (-1.43±.35 SD to .41±.41 SD; P=.009), without a corresponding change in the BMI. Insulinaemia (9.33±1.93mU/ml to 16.55±1.72mU/ml; P=.044) and the HOMA index (3.63±.76 to 6.43±.67; P=.042) increased, approaching insulin resistance levels. No changes were observed in the lipid profile. Body composition changes were observed, with a significant increase in lean mass (73.19±1.26 to 78.74±1.31; P=.037), and a reduction of fat mass (26.81±1.26 to 21.26±1.31; P=.021). CONCLUSION Treatment with rhGH is effective for improving anthropometric variables in SGA patients who have not experienced a catch-up growth. It also produces changes in body composition, which may lead to a reduction in risk of metabolic syndrome. However, some insulin resistance was observed. It is important to follow up this patient group in order to find out whether these changes persist into adulthood.

Composición corporal y riesgo metabólico en niños pequeños para la edad gestacional en tratamiento con hormona del crecimiento

BACKGROUND AND OBJECTIVES Small for gestational age (SGA) children are at increased risk of metabolic syndrome. Our objective is to evaluate changes in body composition produced by growth hormone (GH) treatment. PATIENTS AND METHOD A group of 28 SGA children without catch-up growth and undergoing treatment with GH was selected for evaluation. Over the course of 3 years from the beginning of the treatment with GH, the childrens body composition variables (bone mineral density [BMD], fat and lean body mass proportion) were evaluated annually with dual-energy X-ray absorptiometry. A study of correlation between metabolic and body composition variables was also made. RESULTS Treatment with GH produces a reduction in fat mass proportion in relation to lean body mass, decreasing from 25.94±6.09 to 22.88±5.38% (P=.034). In the abdominal regions we observe an increase in lean mass, from 1,356,91±426,71 to 2,570,96±814,36g (P=.000) and a tendency for visceral fat deposits to decrease. BMD in lumbar vertebrae improved from -1.55±0.68 to -0.90±0.79Z (P=.019). CONCLUSIONS Treatment with GH produces changes in body composition, improving BMD and increasing the proportion of lean body mass with a reduction in fat mass. If these changes persisted into adulthood, they may cause a reduction in the metabolic and cardiovascular risk in this group of patients.