RESUMEN
1p36 deletion syndrome is a common terminal chromosomal deletion syndrome in humans. It is caused by the deletion of genetic material from a specific region in the short arm of chromosome 1. Symptoms range from seizure disorders, abnormalities of tone, visual and auditory disturbances. Cardiac abnormalities like left ventricular non-compaction (LVNC) and dilated cardiomyopathies (DCM) are commonly associated with this syndrome. This case report presents a 15-month-old female with dilated cardiomyopathy associated with 1p36 deletion syndrome, who has been followed from birth. Cardiac function was normal at birth with an ejection fraction of 65%. At three weeks of age, the patient presented with severe tachypnea, cyanosis, poor weight gain, and diaphoresis with feeding. Echocardiogram showed an ejection fraction of 22%. The patient was diagnosed with Modified Ross Heart Failure Class III. The patient was admitted to the cardiovascular intensive care unit where diuretics, phosphodiesterase inhibitors, and ionotropic agents were used to manage the heart failure. The patient relapsed two months later following a severe adenovirus infection. She was readmitted and heart failure medications were optimized. This patient has maintained a steady growth, meeting most milestones with no further relapse. The heterogeneity of 1p36 deletion syndrome presentation poses a diagnostic challenge for most clinicians. Cardiac involvements are very common and infants presenting with signs and symptoms of heart failure need to be screened for chromosomal abnormalities when other causes have been ruled out.
RESUMEN
AIM: To test whether Premaquick biomarkers were superior to modified Bishop score for preinduction cervical assessment at term. METHODS: A multicenter, double-blind randomized clinical trial in 151 nulliparous, cephalic presenting and singleton pregnancies was conducted. The cervix was considered 'ripe' when at least two out of three Premaquick biomarkers are positive or a Bishop score of ≥6. Main outcome measures were proportion of women who were administered or had additional prostaglandin E1 analogue (PGE1) as a preinduction agent and incidence of uterine rupture. The trial was registered in PACTR registry with approval number PACTR201604001592143. Analysis was performed by intention-to-treat principle. RESULTS: The need for initial PGE1 analogue (77.6% vs 98.7%, risk ratio [RR] =0.47, 95% confidence intervals [95% CI] =0.38-0.59, P < 0.001) and additional PGE1 analogue for cervical ripening after one insertion (44.7% vs 68.0%, RR = 0.63, 95% CI = 0.46-0.86, P = 0.004) was significantly lower in Premaquick group. There was no significant difference in incidence of uterine rupture (0% vs 1.4%, RR = 0.000, P = 0.324); however, the frequency of transition to labor was statistically higher in Premaquick group (44.7% vs 22.7%, RR = 1.59, 95% CI = 1.17-2.15, P = 0.004). Interval from start of induction to any type of delivery, need for oxytocin augmentation, vaginal delivery, number of women with cesarean section for failed induction and number of infants admitted to neonatal intensive care unit were similar between the two groups (P > 0.05). CONCLUSION: Preinduction cervical assessment with Premaquick was significantly associated with higher frequency of transition to labor and reduced need for PGE1 analogue when compared to modified Bishop score. Further similar trials in other settings are necessary to strengthen or refute this observation.