Joubert-Plus syndrome with an atretic cephalocele: a case report

Joubert syndrome is a rare heterogeneous disease affecting the cerebellum. It usually presents with hypotonia, abnormal breathing pattern, with distinctive cerebellar and brain stem malformation called the molar tooth sign. It may present with different organ involvement or with other neurological alterations such as Dandy-Walker syndrome. Joubert syndrome with dandy walker syndrome is called Joubert-Plus syndrome, an exceedingly rare entity. Dandy-Walker syndrome is defined by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. Atretic cephalocele is another rare diagnosis which is characterized by a herniation of intracranial contents through a skull defect. Herein, we present a case of a 6-month-old patient who presented with floppiness and a scalp nodule. After further evaluation, he was diagnosed with Joubert-Plus syndrome with an atretic cephalocele.     

Mechanisms of fibroblast growth factor-2 modulation of vascular endothelial growth factor expression by osteoblastic cells

Normal bone growth and repair is dependent on angiogenesis. Fibroblast growth factor-2 (FGF-2), vascular endothelial growth factor (VEGF), and transforming growth factor-beta (TGFbeta) have all been implicated in the related processes of angiogenesis, growth, development, and repair. The purpose of this study was to investigate the relationships between FGF-2 and both VEGF and TGFbeta in nonimmortalized and clonal osteoblastic cells. Northern blot analysis revealed 6-fold peak increases in VEGF mRNA at 6 h in fetal rat calvarial cells and MC3T3-E1 osteoblastic cells after stimulation with FGF-2. Actinomycin D inhibited these increases in VEGF mRNA, whereas cycloheximide did not. The stability ofVEGF mRNA was not increased after FGF-2 treatment. Furthermore, FGF-2 induced dose-dependent increases in VEGF protein levels (P < 0.01). Although in MC3T3-E1 cells, TGFbeta1 stimulates a 6-fold peak increase in VEGF mRNA after 3 h of stimulation, we found that both TGFbeta2 and TGFbeta3 yielded 2- to 3-fold peak increases in VEGF mRNA levels noted after 6 h of stimulation. Similarly, both TGFbeta2 and TGFbeta3 dose dependently increased VEGF protein production. To determine whether FGF-2-induced increases in VEGF mRNA may have occurred independently of TGFbeta, we disrupted TGFbeta signal transduction (using adenovirus encoding a truncated form of TGFbeta receptor II), which attenuated TGFbeta1 induction of VEGF mRNA, but did not impede FGF-2 induction ofVEGF mRNA. In summary, FGF-2-induced VEGF expression by osteoblastic cells is a dose-dependent event that may be independent of concomitant FGF-2-induced modulation of TGFbeta activity.     

Transcatheter occlusion of ruptured sinus of valsalva aneurysm: innovative use of available technology.

A 9-year-old boy was found to have ruptured sinus of Valsalva aneurysm (RSVA) and aortic coarctation. Following relief of aortic coarctation by balloon angioplasty, transcatheter coil occlusion of the RSVA was performed successfully under transesophageal echocardiographic and fluoroscopic monitoring; bioptome-assisted delivery of 0.052" Gianturco coil was undertaken via a 7 Fr sheath stabilized by an 0.035" guidewire passing through the RSVA and the sheath. This report details the technique of occlusion.     

Cardiac troponin I in neonates undergoing the arterial switch operation

BACKGROUND: Cardiac troponin I (TnI) is a sensitive and specific marker of myocardial injury, but little is known about its release after complex congenital heart surgery. We investigated whether TnI correlates with early clinical outcome in neonates undergoing the arterial switch operation (ASO) for transposition of the great arteries (TGA). METHODS: Troponin I was measured serially up to 48 hours postoperatively in 31 neonates undergoing the ASO alone (simple TGA) and 9 neonates undergoing the ASO combined with other procedures (complex TGA) (eg, closure of a ventricular septal defect) and correlated with intraoperative and postoperative clinical parameters. RESULTS: There was no mortality. Troponin I peaked at either 4 or 12 hours postoperatively in all patients (median for simple TGA = 3.4 ng/mL, interquartile range 2.4 to 4.6; median for complex TGA = 4.7 ng/mL, interquartile range 3.2 to 6.8, p = 0.20). Peak TnI correlated with the durations of inotropic support (r = 0.54, p < 0.001), ventilation (r = 0.51, p < 0.01), and intensive care unit stay (r = 0.50, p < 0.01). The duration of cardiopulmonary bypass, aortic cross-clamping, and circulatory arrest did not correlate with the peak or total TnI release. The duration of aortic cross-clamping correlated poorly with the duration of inotropic support (r = 0.40, p < 0.05). The complex TGA group had longer aortic cross-clamp times, required more postoperative inotropic support, and had significantly higher total TnI release compared with the simple TGA group. CONCLUSIONS: There are weak but statistically significant correlations between peak TnI and clinical outcome. Complexity of the defect and ischemic times may be as useful to predict outcome in this group of patients.     

The utility of the 13C-galactose breath test as a measure of liver function

BACKGROUND: The 13C-galactose breath test has been reported to be an accurate, non-invasive method for the assessment of liver function. AIMS: To determine the optimal doses of labelled and unlabelled carrier galactose necessary to perform the 13C-galactose breath test, to assess the utility of the 13C-galactose breath test in distinguishing between normal subjects and those with liver cirrhosis and to determine whether the 13C-galactose breath test can stratify patients with cirrhosis based on their Child-Pugh score. METHODS: Twenty-three control subjects and 30 patients with liver cirrhosis received fixed doses of unlabelled carrier galactose and labelled 13C-galactose. Breath samples were collected just before and at 30-min intervals up to 4 h after the ingestion of unlabelled carrier galactose and labelled 13C-galactose. Each sample was analysed for its 13CO2 content. RESULTS: Doses of 25 g/m2 of unlabelled carrier galactose and 100 mg of 13C-galactose had the greatest sensitivity (93%; 95% confidence interval, 76-99%) and specificity (87%; 95% confidence interval, 65-97%) for distinguishing between normal subjects and cirrhotics when the test was performed 2 h after ingestion. The 13C-galactose breath test was also able to distinguish between class A and class B or C cirrhotics. CONCLUSION: The 13C-galactose breath test is a useful non-invasive tool for distinguishing between healthy subjects and patients with liver cirrhosis and between cirrhotics with well-compensated liver disease and those with decompensated liver disease.     

HLA-DMA allele polymorphism: no impact on kidney allograft outcome

The purpose of this study was to analyze the association of HLA-DMA alleles with rejection episodes and early graft loss (EGL) in renal transplant recipients. One hundred and eighty four HLA-DMA alleles were retrospectively analyzed by DNA sequence analysis in 92 kidney transplant recipients. The gene frequencies of HLA-DMA *0101, *0102, *0103 and *0104 were found to be similar in all recipients, regardless of rejection vs non rejection episodes and EGL incidence. In conclusion, HLA-DMA allele polymorphism did not impact renal allograft outcome.     

Iron deficiency in children with early chronic kidney disease

Iron deficiency (ID) contributes to the development of anemia in patients with chronic kidney disease (CKD). The frequency of ID in children with early CKD has not previously been reported. This was a retrospective chart review of children with CKD stages 2 and 3 followed at the CKD clinic of Children’s Hospital of Michigan. ID was defined as low ferritin and transferrin saturation <20%. Patients on iron supplements were considered as iron-deficient cases. There were 50 patients included in the study (72% male) with a mean age of 10.31 (±5.21). The mean glomerular filtration rate (GFR) was 55.4 ml/min/1.73 m² (±14.61). ID was present in 42% of patients, out of whom almost half (42.9%) presented with anemia. Females had a higher frequency of ID (64.3%). The frequency of ID with anemia increased from 4.3% to 29.6%, (p = 0.03) in stage 2 to stage 3 CKD, respectively. The frequency of ID without anemia also increased with progression of CKD from stage 2 to stage 3, however, the difference was not statistically significant. ID is frequent in patients with early CKD. Monitoring of iron tests and treatment of ID is important in this population of patients.