MOTOR RESTLESSNESS

Motor restlessness, characterised by an irresistible urge to move about, can be a manifestation of many underlying disorders. Unfortunately, it is often poorly recognised and underdiagnosed in clinical practice, possibly because patients do not seek medical attention, or their complaints were thought to be secondary to anxiety. While the two major conditions to consider are restless legs syndrome and neuroleptic-induced akathisia, there are many other differential diagnoses. We provide a concise review of the clinical features and diagnostic pitfalls of these conditions. A proper detailed clinical history and examination can often help clinch the diagnosis, as most of these conditions have their unique clinical features.     

Septo-optic dysplasia: MR imaging

Septo-optic dysplasia is the diagnosis when optic nerve hypoplasia is seen in conjunction with dysgenesis of the septum pellucidum. Nearly two-thirds of these patients have hypothalamic-pituitary dysfunction, and half have schizencephaly. The disorder is difficult to classify because of the diversity of clinical and pathologic manifestations. Magnetic resonance images of 11 patients with clinical and radiographic evidence of septo-optic dysplasia were reviewed retrospectively. The "syndrome" appears to include two subsets of patients whose abnormalities have different embryogenesis and neuropathologic findings. The existence of these two subsets helps to explain the diversity of the clinical and radiologic findings.     

Analysis of four prevalent filaggrin mutations (R501X, 2282del4, R2447X and S3247X) in Austrian and German patients with atopic dermatitis

Background Recently, mutations in the filaggrin gene (FLG) have been shown to be a major predisposing factor for atopic dermatitis (AD). Objective In this study, we evaluated the influence of four prevalent mutations (R501X, 2282del4, R2447X and S3247X) in a large cohort of 462 Austrian and German AD patients and in 402 control individuals. Results We found a strong association of the FLG mutations with AD. Subgroup analysis revealed a significantly higher proportion of patients with an early age of disease onset and significantly higher median serum IgE levels among mutation carriers. Furthermore, we observed an overrepresentation of null alleles in AD patients with concomitant asthma compared with those without this co‐morbidity. Conclusion Our data confirm and extend the knowledge of the influence of FLG mutations in AD.     

Molecular characterization of a gene encoding juvenile hormone esterase in the red flour beetle,Tribolium castaneum

Juvenile hormone esterases (JHEs) are required for the degradation of juvenile hormones (JHs) in insects. Here, we report the cloning and analysis of the jhe gene in the red flour beetle, Tribolium castaneum, a model insect of Coleoptera. The Tcjhe gene was strongly expressed at the final instar larva, as would be expected if it functioned to decrease the JH titer at this stage. A recombinant TcJHE protein efficiently degraded JH III, suggesting that the enzyme functions in vivo as a JH‐specific degradation enzyme. This is the first report describing the developmental expression profile of the jhe gene whose enzymatic activity was shown in Coleoptera, and the new data reported here will aid elucidation of the mechanism of JH titer regulation in insects.     

Surgical treatment of pulmonary atresia with intact ventricular septum in infancy--analysis of right ventricular growth potential after pulmonary valvotomy

Our surgical experience involving pulmonary atresia with intact ventricular septum (PPA) between the years 1981 and 1989 is reviewed. Twelve infants aged 3 days to 11 months were studied for right ventricular growth potential with angiocardiography and hemodynamics after transventricular pulmonary valvotomy (TVPV). Ten infants were divided into two groups, 5 infants (Group I) were treated with TVPV only, and the other 5 infants (Group II) required additional surgery after the initial operation (TVPV in 2 cases and TVPV with shunt in 3 cases). Post-operative RV growth potential was evaluated with right ventricular index (RVI) based on the tricuspid valve annulus, right ventricular inlet, and right ventricular outlet dimensions, and with tricuspid annular index (TVI) based on the tricuspid valve annulus normalized by aortic diameter. Follow-up (3-69 months after initial operation) studies demonstrated that the RV cavity increased in Group I (RVI of 15.75 +/- 2.92 preoperatively versus 17.00 +/- 1.57 postoperatively, TVI of 3.04 +/- 0.63 versus 3.85 +/- 0.40). In contrast, the RV cavity in Group II demonstrated a lack of growth (RVI of 9.24 +/- 2.60 versus 9.85 +/- 2.76, TVI of 1.46 +/- 0.46 versus 1.70 +/- 0.80). PPA infants with RVI greater than 11 have been treated successfully with TVPV alone, which may maximize the potential for RV growth, but infants with RVI less than 11 have not experienced RV growth + postoperatively and, therefore, have required second intracardiac operations.     

Renal vein thrombosis in patients with nephrotic syndrome: CT diagnosis

A retrospective evaluation of the computed tomography (CT) findings in 50 patients with the nephrotic syndrome was undertaken. In four patients with clinical manifestations of acute renal vein thrombosis (RVT) on initial examination, the diagnosis was confirmed by CT findings. Three patients had left RVT, one had right RVT, and all four had thrombus in the inferior vena cava (IVC) at the level of the renal veins. Of the remaining 46, otherwise asymptomatic patients, one had bilateral RVT, two had left RVT, and five had isolated IVC thrombus. The abnormalities noted on CT scans were widened renal vein(s) containing thrombus, thrombus in the IVC, renal enlargement, thickened Gerota fascia and formation of pericapsular venous collaterals, and an abnormal renal parenchymal enhancement pattern consisting of prolonged corticomedullary discrimination, delayed and/or persistent paraenchymal opacification, and delayed or absent pyelocalyceal visualization.