Fetal brain small vessel disease 1 caused by a novel mutation in the COL4A1 gene.

A singleton fetus was referred to fetal magnetic resonance imaging (MRI) at 25 weeks due to mild ventriculomegaly and an abnormal fetal echocardiogram showing cardiomegaly, right ventricular hypertrophy and tricuspid insufficiency. Patchy areas of ischemic infarction, extensive subacute and chronic hemorrhage not respecting vascular territories, encephaloclastic cysts and closed lip schizencephaly were identified. Cataract was detected postnatally. The anomalies were caused by a pathogenic mutation (c.353 G>A; p.G118D) in the COL4A1 gene. The phenotype seen in this case, i.e. small vessel cerebral disease with or without ocular anomalies caused by COL4A1 mutations, is likely an underrecognized cause of perinatal stroke. The pattern of abnormalities reported herein should prompt strong consideration for diagnosis and molecular testing.

Transverse aortic arch to descending aorta ratio: a new echocardiographic parameter for management of coarctation of the aorta in the infant.

OBJECTIVE: The purpose of this study was to establish an objective criterion to help assess adequacy of the transverse arch in newborns with coarctation and thereby optimize preoperative surgical decision making. METHODS: Echocardiograms of 47 patients < 6 months of age who underwent coarctation repair from September 2005 to November 2008 and 47 age-matched healthy infants were reviewed. The proximal and distal transverse aortic arch to descending aorta ratios (TAA:DAO ratio) were calculated from the end-systolic proximal and distal transverse aortic arch diameters and diameter of the descending aorta at the diaphragm. RESULTS: Both the proximal and distal TAA:DAO ratios were significantly lower in the study vs. control group (P = .001) and in patients who underwent patch reconstruction of the aorta vs. extended end-to-end anastomosis (P = .014; P = .015). All patients who underwent patch reconstruction had a proximal and/or distal TAA:DAO < 0.65. A cutoff of 0.65 was derived based on our analyses and an algorithm was developed to guide decision making. Forty-six out of 47 patients were free from reintervention. CONCLUSION: The TAA:DAO ratio appears to be an accurate parameter by which the adequacy of the transverse arch can be assessed preoperatively using the proposed algorithm, and thus help determine the type of surgical intervention and approach.

Unusual variant of a rare constellation: a left-sided scimitar syndrome with connection to the azygos vein.

Scimitar syndrome is a rare variant of partial anomalous pulmonary venous return. The syndrome consists of a right-sided abnormal lung segment that is directly supplied by arteries from the aorta and has an anomalous venous drainage to the inferior vena cava. Three cases of left-sided scimitar syndrome have been reported in the literature, but it has not yet been associated with venous drainage to the azygos vein. Herein we report a left-sided scimitar syndrome with anomalous venous drainage to the azygos vein.

Evidence for functional interaction of plasma membrane electron transport, voltage-dependent anion channel and volume-regulated anion channel in frog aorta.

Frog aortic tissue exhibits plasma membrane electron transport (PMET) owing to its ability to reduce ferricyanide even in the presence of mitochondrial poisons, such as cyanide and azide. Exposure to hypotonic solution (108 mOsmol/kg H2O) enhanced the reduction of ferricyanide in excised aortic tissue of frog. Increment in ferricyanide reductase activity was also brought about by the presence of homocysteine (100 microM dissolved in isotonic frog Ringer solution), a redox active compound and a potent modulator of PMET. Two plasma-membrane-bound channels, the volume-regulated anion channel (VRAC) and the voltage-dependent anion channel (VDAC), are involved in the response to hypotonic stress. The presence of VRAC and VDAC antagonists-tamoxifen, glibenclamide, fluoxetine and verapamil, and 4,4'-diisothiocyanatostilbene-2,2'-disulphonic acid (DIDS), respectively-inhibited this enhanced activity brought about by either hypotonic stress or homocysteine. The blockers do not affect the ferricyanide reductase activity under isotonic conditions. Taken together, these findings indicate a functional interaction of the three plasma membrane proteins, namely, ferricyanide reductase (PMET), VDAC and VRAC.

Plasma membrane electron transport in frog blood vessels.

In an attempt to see if frog blood vessels possess a plasma membrane electron transport system, the postcaval vein and aorta isolated from Rana tigrina were tested for their ability to reduce ferricyanide, methylene blue, and 2,6-dichloroindophenol. While the dyes remained unchanged, ferricyanide was reduced to ferrocyanide. This reduction was resistant to inhibition by cyanide and azide. Heptane extraction or formalin fixation of the tissues markedly reduced the capability to reduce ferricyanide. Denuded aortas retained only 30% of the activity of intact tissue. Our results indicate that the amphibian postcaval vein and aorta exhibit plasma membrane electron transport.