Mercedes Jáñez

Fetal myocardial morphological and functional changes associated with well-controlled gestational diabetes.

OBJECTIVE To make a global evaluation of the fetal myocardial changes in a well-controlled gestational diabetic population. STUDY DESIGN Twenty-four pregnant well-controlled diabetic patients were selected. Sixteen normal pregnancies were randomly collected as a control group. Measurements of morphological and functional myocardial parameters were performed. Data from the left ventricular outflow tract and peripheral Doppler data were obtained. RESULT The thickness of the interventricular septum was increased in diabetic pregnancies (p < 0.001). Tricuspid E/A index was the only functional parameter showing a significant variation, with lower values in diabetic pregnancies. Doppler parameters from the left ventricular outflow tract and peripheral Doppler waveforms were similar between groups. CONCLUSION A tendency towards interventricular septum hypertrophy was observed even in well-controlled diabetic pregnancies. Mild hypertrophic cardiac changes were not associated with abnormal cardiac function or signs of left ventricular outflow obstruction, although minor changes in right ventricular diastolic function were recorded.

Use of insulin lispro during pregnancy in women with pregestational diabetes mellitus.

BACKGROUND AND OBJECTIVE To assess the safety and efficacy of insulin analogues versus human insulin in pregnant women with pregestational diabetes. PATIENTS AND METHODS We collected data on pregnant women with type 1 or type 2 diabetes who were attended at the Diabetes and Pregnancy Unit between January 1998 and April 2008 (N=351). Two hundred and forty one patients were treated with regular insulin and NPH and 110 were treated with different combinations of insulins including an insulin analogue (most of them with NPH and lispro). RESULTS There was no significant difference in terms of congenital malformation rate between groups (3.3% and 3.6%). The group on insulin analogue had slightly higher mean HbA1c during the first trimester than the group on human insulin (6.6 [1.0]% vs 6.9 [1.1]%; P=0,022) and needed smaller insulin doses during whole pregnancy. Severe hypoglycaemia was significantly less frequent among women treated with a rapid insulin analogue (2.3 vs 10.0%; P=0,025). Neonatal hypoglycaemia was significantly more frequent in the group treated with a rapid insulin analogue (34.9 vs 23.6%; P=0.043) due to the concomitant use of an insulin pump. Other obstetric and neonatal variables were not different between the two groups. CONCLUSION Our study shows that insulin analogues are safe during pregnancy in women with pregestational diabetes mellitus. Overall, glycaemic control, maternal and foetal outcome were similar to those with human insulin. The main advantage with respect to human insulin was to importantly reduce maternal severe hypoglycaemia.

Identification of eight new mutations in the GCK gene by DHPLC screening in a Spanish population.

Maturity onset diabetes of the young (MODY) is a genetically heterogeneous disorder characterized by autosomal dominant inheritance, altered function of pancreatic beta cells and early onset diabetes mellitus, usually before 25 years old. The prevalence of specific mutations of MODY genes differs considerably among different countries. In this study we analyzed 53 index cases from unrelated MODY families who are potential carriers of mutations in GCK gene. In addition, 122 relatives were also studied. We have identified eight new mutations in the GCK gene. One of them is a non-frameshift deletion involving Lysine 143. This amino acid is part of the conserved stretch of basic residues (KHKKL) which spans from residue 140 to 144. The non-frameshift deletion might implicate the affinity of GCK for GCKRP, and potentially the abnormal nuclear localization of GCK. Additional studies should be performed to confirm this possibility.

Influencia del control metabólico preconcepcional en la evolución de la gestación de la paciente diabética

Fundamento En la paciente diabetica es preciso un control metabolico estricto en los momentos previos a la concepcion y en las primeras semanas del embarazo para disminuir la morbilidad maternofetal. En nuestro estudio tratamos de comprobar si dicho control se relaciona o no con la aparicion de abortos y de complicaciones neonatales Pacientes y metodo Se examina a 69 pacientes diabeticas, 62 diabeticas tipo 1 y 7 diabeticas tipo 2, sometidas a control preconcepcional en la unidad de diabetes y embarazo en el periodo 1992-1998. Se llevo a cabo control metabolico en el periodo preconcepcional y a lo largo de la gestacion. Se analiza la relacion entre los parametros de control metabolico en el periodo preconcepcional inmediato y la evolucion de la gestacion Resultados Un total de 50 mujeres (72,6%; intervalo de confianza [IC] del 95%: 62-83%) finalizaron el control preconcepcional con embarazo. De estas pacientes, 8 (16%; IC del 95%: 5,5–27%) abortaron. No hubo diferencias entre las pacientes que abortaron y las que no, en relacion con la hemoglobina glucosilada (HbA 1c) con que terminaron el control preconcepcional, edad, tiempo de evolucion de la diabetes y edad al diagnostico, presencia de anticuerpos antitiroideos o de vasculopatia. En los 41 embarazos con feto unico, hubo macrosomia en un 36,6% (IC del 95%: 21,2-52%), hipoglucemia neonatal en un 19,5% (IC del 95%: 6,9-32%) y malformaciones graves en un caso (2,4%; IC del 95% 2-7,4%). La HbA 1c media (desviacion estandar) de las 41 pacientes embarazadas con feto unico al inicio del periodo preconcepcional fue del 7,6 (1,3) (IC del 95%: 7,1-7,9%) y al final de dicho periodo del 6,5% (0,7) (IC del 95%: 6,3-6,7%) (p Conclusion Un mejor control metabolico en el periodo preconcepcional puede contribuir a disminuir la incidencia de macrosomia y de morbilidad neonatal

Miopatía mitocondrial en el embarazo

Resumen Las enfermedades mitocondriales son un grupo diverso de trastornos multisistemicos poco frecuentes caracterizados por la presencia de anomalias estructurales y/o funcionales de la cadena respiratoria mitocondrial. Aunque pueden estar afectados multiples organos, el musculo esqueletico es el mas frecuente. La intolerancia severa al ejercicio con mioglobinuria, debilidad proximal de extremidades, las mialgias difusas y la acidosis son algunas manifestaciones descritas en estos trastornos. Este caso pretende discutir el tratamiento clinico del embarazo y el parto complicados con miopatia mitocondrial y las opciones terapeuticas