Pagină 1 din 22 rezultate
Neurofibromatosis 1 (NF1) is the most common neurocutaneous syndrome. It is estimated to occur in approximately 1 out of every 3300 infants. The manifestations of this condition are diverse and can arise from almost any system in the body. The neurofibroma is the hallmark lesion of NF1 that develops
A 17-month-old boy developed grand mal seizures secondary to lidocaine toxicity during balloon dilatation of a congenital pulmonary valve stenosis. Lidocaine at 38 mg/kg (nine times the recommended maximum dose of 4.5 mg/kg) was administered during a 90-min period in order to optimize local
Deletions of 20p are rare with the majority of reported cases involving individuals with 20p12 deletions associated with Alagille syndrome. We report on a child with a de novo mosaic 20p11 deletion who presents with panhypopituitarism; hypoplastic pituitary gland and ectopic posterior pituitary
Percutaneous pulmonary valve valvuloplasty was attempted 17 times in 16 infants and children aged 15 days to 18 years. Valvuloplasty was performed during cardiac catheterization without general anesthesia. Balloon catheter was positioned across the pulmonary valve using a guide wire previously
OBJECTIVE
Neurological complications after cavopulmonary connections like bidirectional Glenn shunt and Fontan connection are occasionally encountered in the postoperative period. We discuss such a case of bilateral bidirectional Glenn shunt which developed convulsive syncope
A prenatally sonographically diagnosed conotruncal anomaly with mosaic type trisomy 21 and 22q11.2 microdeletion/DiGeorge syndrome: We report a prenatally sonographically diagnosed conotruncal and urogenital anomaly. Postnatally, the patient presented with seizures, hypocalcemia, hypoparathyroidism
The data of 93 patients (age 11.4 +/- 9.4 years, range 8 months-56 years) who underwent pulmonary balloon valvuloplasty (PBV) for valvular pulmonic stenosis (PS) in our institution are reviewed. The patients were classified into three groups: Group I (34 patients) had a right ventricular (RV) to
MAP2K1 encodes mitogen-activated protein kinase 1 (MEK1). Mutations in MAP2K1 lead to continuous activation of MEK/ERK signaling pathway, giving rise to cardio-facio-cutaneous syndrome (CFCS). However, the molecular mechanisms of abnormal activation of MEK/ERK signaling pathway and the role of
Keutel syndrome is a rare autosomal recessive disorder characterized by diffuse cartilage calcification, characteristic physiognomy, brachytelephalangism, peripheral pulmonary stenosis, hearing loss, and borderline to mild mental retardation. We report on an Arab boy with Keutel syndrome and
Wider selection of young patients for prosthetic valve replacement for valvular heart disease has resulted in an increase in number of women with heart disease reaching childbearing age. Such patients presenting in labor for emergency cesarean section require special consideration. We present a
We aimed to ascertain the prevalence of cardiac malformation (CM) and its association with antenatal exposure to an antiepileptic drug (AED) in infants of mothers with epilepsy (IMEs). Women with epilepsy (WWE) are enrolled in Kerala Registry of Epilepsy and Pregnancy (KREP) in the prepregnancy or
E-type prostaglandins (PGE1) can effectively maintain the patency of the ductus arteriosus in neonates. Its use, therefore can be life saving in infants born with ductus dependent congenital heart disease. Although PGE1 is available for over two decades in western world, it has been introduced in
OBJECTIVE
The usual initial dose of prostaglandin E1 (PGE1) for ductal-dependent congenital heart disease (CHD) is 50-100 ng/kg/minute. The aim of this study was to review our experience of a low initial dose of PGE1 treatment in early newborns with congenital heart disease and patent ductus
OBJECTIVE
The physiological changes during pregnancy can significantly alter antiepileptic drug (AED)'s absorption, distribution, metabolism and elimination, thus influencing their plasma concentration. Considering that the risks of using old and new AEDs during pregnancy are still debated, our aim