ng-Shiang Chi

Isolated neonatal ductus arteriosus aneurysm

OBJECTIVE A prospective study was performed to evaluate the incidence, clinical manifestations and outcome of ductus arteriosus aneurysm (DAA) in full-term neonates. BACKGROUND Ductus arteriosus aneurysm has been considered to be a rare congenital lesion and a potentially fatal abnormality. METHODS A total of 548 full-term neonates received echocardiographic screening. RESULTS There were 48 (8.8%) patients (28 boys and 20 girls) with DAA detected by echocardiography. The maximal diameter of the DAA ranged from 6.5 to 11.2 mm (8.2 +/- 1.2 mm). All cases were asymptomatic. There were no significant differences in gender, gestational age, maternal age or Apgar score between the newborns with or without DAA. Newborns with DAA had a higher birth body weight, higher incidence of maternal gestational diabetes mellitus and more mothers with blood group A, compared with newborns without DAA (p < 0.05). Follow-up echocardiograms showed spontaneous closure of the ductus arteriosus in all patients except those without DAA. The DAA became progressively smaller after ductal closure in 33 patients (70.2%) and completely disappeared by 7 to 35 days of life. The other 14 patients (29.8%) with DAA had echocardiographic evidence of progressive formation of thrombi between the third and tenth day of life. The DAA and thrombi spontaneously disappeared in all patients by one month after birth. CONCLUSIONS There is a higher incidence of DAA with a good outcome in our series compared with previous reports. We speculate that the presence of DAA may be a normal variant of the ductal bump and part of a normal process of spontaneous ductal closure in full-term neonates.

Intracardiac Ultrasound Assessment of Atrial Septal Defect: Comparison with Transthoracic Echocardiographic, Angiocardiographic, and Balloon-Sizing Measurements

PurposeAccurate evaluation of the size, location and adjacent structure of an atrial septal defect (ASD) is very important in the selection of patients for further management. We directly compared the utility of transthoracic echocardiography, angiocardiography, balloon sizing, and intracardiac ultrasound (ICUS) in the detection of ASD.MethodsTwenty-one children underwent an ICUS study of ASD after routine clinical and laboratory studies. All patients had received transthoracic echocardiography (TTE), cardiac catheterization, cineangiography, and balloon sizing before the ICUS to evaluate the ASD.ResultsThere was a significant correlation between the ICUS-derived ASD diameter and the other methods (p < 0.001). The balloon-sizing diameter was estimated by the equation: TTE diameter × 1.09 + 3.9 mm. There was a good correlation between the predicted and measured balloon-sizing diameter (r = 0.963; p < 0.001).ConclusionIt is worthwhile spending a few minutes to perform ICUS during cardiac catheterization since it will provide more detailed information on and high resolution images of atrial septal morphology, especially for patients undergoing transcatheter closure by device.

Norepinephrine induces apoptosis in neonatal rat endothelial cells via a ROS-dependent JNK activation pathway

Our previous study demonstrated that norepinephrine (NE) induces endothelial apoptosis mainly through down-regulation of Bcl-2 protein and activation of the β-adrenergic and caspase-2 pathways. However, whether reactive oxygen species (ROS) and mitogen-activated protein kinases (MAPKs) are involved in this signal transduction remains unknown. Endothelial cells cultured from neonatal rat heart were treated with 100 μM NE. Proteins of MAPKs and Bcl-2 family were assayed by Western blotting. Apoptosis was determined by terminal deoxynucleotidyl transferase-mediated nick end-labeling assay. ROS was analyzed with flow cytometry. Caspase activity was measured using specific fluorogenic substrates. Treatment with NE increased intracellular ROS level and extracellular signal-regulated kinase (ERK), c-Jun N-terminal kinase (JNK), and p38 phosphorylation. Whereas the phosphorylated form of Akt was decreased. The NE-induced apoptosis was abrogated by SP600125 (a specific inhibitor of JNK). Antioxidants such as vitamin C and N-acetyl cysteine inhibited NE-induced ROS production, JNK phosphorylation, caspase activation and apoptosis. Exogenously added superoxide dismutase or catalase markedly diminished NE-induced ROS production and cell death. In conclusions, our study is the first report documenting that NE induces apoptosis in neonatal rat endothelial cells via a ROS-dependent JNK activation pathway. Antioxidants may be useful in the prevention and management of NE-mediated endothelial apoptosis during heart failure.

Clinical Experience of Ketogenic Diet on Children with Refractory Epilepsy

Thirteen children with refractory epilepsy received a ketogenic diet (medium chain triglyceride oil diet) as an alternative therapy since September 1997. Their seizure patterns included (1) generalized tonic-clonic seizures, (2) myoclonic seizures, (3) generalized tonic + atonic seizures, (4) complex partial seizures, (5) generalized clonic + atonic + myoclonic seizures, (6) head nodding + myoclonic + gelastic seizures, and (7) generalized tonic-clonic + myoclonic + atonic seizures. Major concerns emphasized on the efficacy and side effects of the diet. Clinical observation one month after the diet revealed that 53.8% of the patients had a > 75% reduction in seizure frequency and 76.9% of the patients had a > 50% reduction in seizure frequency. Six patients had some degrees of improvement in cognitive function and/ or school performances. The most common side effects were body weight loss (n = 6) and diarrhea (n = 5). Others included bad temper (n = 1), abdominal cramps (n = 2), nausea (n = 2), bad body smell (n = 1), and renal stones (n = 1). Even after discontinuation of the diet, 61.5% of patients still had a > 50% reduction in seizure frequency. We concluded that the ketogenic diet deserves a trial in children with refractory epilepsy.

MRI of Joubert's syndrome

OBJECTIVE To report five cases of the rare Jouberts syndrome. SUBJECTS All five cases were studied by 1.0-Tesla MRI. All the patients showed typical clinical manifestations of Jouberts syndrome including neonatal respiratory abnormalities, developmental delay, ataxia, retinal atrophy and nystagmus. RESULTS The T1WI of MRI showed characteristic MRI features of Jouberts syndrome including dilatation of the fourth ventricle with some appearing bat-wing shaped, elongation and stretching of the superior cerebellar peduncles, dysphasia of the vermis, widening of the foramen of Magendie and the posterior cistern. One case was associated with encephalomeningocele. CONCLUSIONS MRI can provide characteristic findings of Jouberts syndrome and confirm the clinical diagnosis.

Prediction of ductus arteriosus closure by neonatal screening echocardiography

AIMS We reported the incidence, clinical manifestations and outcome of patent ductus arteriosus (PDA) in full-term infants by screening echocardiography. METHODS AND RESULTS Total 1230 infants received echocardiographic screening and periodic follow-up. On the third day of life, there were 109 infants with isolated ductus arteriosus aneurysm (DAA), those with persistent patency of the ductus arteriosus (DA) in 26. The DA closed within 48 h in 828 infants, and persisted beyond 48 h in 180. The incidence of PDA in full-term infants was 0.91, 0.83 and 0.66% at 1, 4 and 6 months follow-up, and 0.82, 0.73 and 0.64% if infants with DAA were excluded. Infants with PDA had lower birth body weight (BBW) than those with closed DA (p = 0.02). The DA width on the third day of life ranged from 0.23 to 0.43 cm (0.32+/-0.08 cm) and 0.08 to 0.44 cm (0.16+/-0.06 cm) in infants with or without PDA, respectively, which was significantly different (p < 0.05). The sensitivity, specificity, predictive positive and negative values were 87.5, 92.5, 36.8 and 99% respectively for the cuff-off point at 0.25 cm of DA width. CONCLUSIONS Risk factors in infants with PDA included lower BBW and larger measured DA width at the third day of life. We predicted the arterial duct would close if DA width <0.25 cm, and suggested follow up earlier if >0.25 cm on the third day of life.Aims: We reported the incidence, clinical manifestations and outcome of patent ductus arteriosus (PDA) in full-term infants by screening echocardiography. Methods and results: Total 1230 infants received echocardiographic screening and periodic follow-up. On the third day of life, there were 109 infants with isolated ductus arteriosus aneurysm (DAA), those with persistent patency of the ductus arteriosus (DA) in 26. The DA closed within 48 h in 828 infants, and persisted beyond 48 h in 180. The incidence of PDA in full-term infants was 0.91, 0.83 and 0.66% at 1, 4 and 6 months follow-up, and 0.82, 0.73 and 0.64% if infants with DAA were excluded. Infants with PDA had lower birth body weight (BBW) than those with closed DA (p= 0.02). The DA width on the third day of life ranged from 0.23 to 0.43 cm (0.32 ± 0.08 cm) and 0.08 to 0.44 cm (0.16 ± 0.06 cm) in infants with or without PDA, respectively, which was significantly different (p < 0.05). The sensitivity, specificity, predictive positive and negative values were 87.5, 92.5, 36.8 and 99% respectively for the cuff-off point at 0.25 cm of DA width. Conclusions: Risk factors in infants with PDA included lower BBW and larger measured DA width at the third day of life. We predicted the arterial duct would close if DA width <0.25 cm, and suggested follow up earlier if 0.25 cm on the third day of life.

Acute immune thrombocytopenic purpura in infants: associated factors, clinical features, treatment and long-term outcome.

Abstract:  The natural course of acute immune thrombocytopenic purpura (ITP) in infants is poorly described in the literature. A retrospective study of 17 consecutive patients <1 yr of age admitted and treated for acute ITP between 1996 and 2005 was conducted. We investigated their demographics, vaccination history, clinical features, laboratory examinations, response to treatment and long‐term outcome. There were 11 male and six female infants. Their ages ranged from 24 d to 12 months with a median of 3 months. All infants presented with petechiae and/or ecchymoses. Fourteen cases had platelet counts below 20 × 109/L at the time of admission. They all had good response to a single course of treatment (14/17) or multiple courses of treatment (3/17). None had progressed into chronic ITP. Seven infants had a causal relationship with immunization, five associated with hepatitis B, one diphtheria–pertussis–tetanus, one diphtheria–tetanus–acellular pertussis‐inactivated poliovirus vaccine‐conjugated Haemophilus influenza vaccines. These seven infants responded to treatment within 3–9 d after therapy with intravenous immunoglobulin, high‐dose methylprednisolone or oral steroids. Re‐boosters with vaccines revealed no recurrence of the disease in all of these seven patients. The study suggests that further immunization is not contraindicated in infants experiencing acute ITP associated with vaccines.

Transcatheter Closure of a Large Patent Ductus Arteriosus in a Young Child Using the Amplatzer Duct Occluder

The Amplatzer duct occluder (ADO) provides a safe and effective therapy for patients with moderate- to large-sized patent ductus arteriosus (PDA), but there have been few reports of transcatheter closure of very large PDAs in young children and infants. We report a successful transcatheter closure of a very large PDA, 10.5 mm in diameter at the narrowest point, with a 14/12-mm ADO. To our knowledge, this is the largest PDA ever closed by an interventional method in such a young child.

Discordance between dipyridamole stress technetium-99m tetrofosmin single photon emission computed tomography and coronary angiography in patients with Kawasaki disease.

Kawasaki disease (KD) is an acute vasculitis syndrome of unknown etiology that mainly affects the coronary arteries. The purpose of this study was to assess the agreement between dipyridamole stress technetium-99m tetrofosmin (Tc-TF) myocardial perfusion single photon emission computed tomography (SPECT) and coronary angiography in these patients. Twenty-nine children with KD were included in this study. All of the 29 children also received dipyridamole stress Tc-TF myocardial perfusion SPECT within 1 month of their coronary angiographic studies. The results showed that (1) 89.7% of children had negative coronary angiographic findings without significant coronary stenoses, and 10.3% of children had positive coronary angiographic findings with significant coronary stenosis; (2) 44.8% of children had negative Tc-TF myocardial perfusion SPECT findings without abnormal myocardial perfusion, and 55.2% of children had positive Tc-TF myocardial perfusion SPECT findings with abnormal myocardial perfusion; (3) 44.8% of children had both normal coronary angiographic and Tc-TF myocardial perfusion SPECT findings, and 10.3% of children had both abnormal coronary angiographic and Tc-TF myocardial perfusion SPECT findings; and (4) There was no significant agreement between coronary angiographic and Tc-TF myocardial perfusion SPECT findings. We concluded that poor agreement exists between coronary angiographic and Tc-TF myocardial perfusion SPECT findings with coronary stenoses and abnormal myocardial perfusion in children with KD.

Leigh syndrome associated with mitochondrial DNA 8993 T → G mutation and ragged-red fibers

We report a 6-month-old girl with episodic hyperventilation, myoclonus, disturbed consciousness, and lactic acidosis. Brain sonogram revealed progressive ventriculomegaly, and MRI showed symmetric low densities over the putamen bilaterally with diffuse cortical cystic lesions. Ragged-red fibers were noted in the muscle biopsy. Molecular analysis revealed a heteroplasmic T-->G mutation at nucleotide position (np) 8993 of mitochondrial DNA (mtDNA). The proportion of the mutant mtDNA in the muscle of the proband was estimated to be 86%. Her mother and maternal uncle also harbored the same mutant mtDNA (54 and 48% in their leukocytes, respectively). One of her sisters carried 64% mutant mtDNA in her leukocytes, but another sister did not. These results suggest that this mutant mtDNA is transmitted through the maternal lineage in this family in a randomly segregated manner. To our knowledge, this is the first report of a Chinese patient with Leigh syndrome associated with the T-->G substitution at np 8993 of mtDNA.