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Pediatric patients with myelopathy expressing intradural spinal vascular ectasia without arteriovenous shunting were studied at four tertiary referral neuropediatric centers. Patients were identified by retrospective review of institutional records and excluded if spinal vascular pathology could be classified into a previously described category of spinal vascular malformation. Four patients meeting the study criteria were enrolled in the study. Clinical, magnetic resonance imaging, catheter-directed angiography, laboratory, histological and genetic data were analyzed to characterize the disease process and elucidate underlying pathomechanisms. Our study revealed a highly lethal, progressive multi-segmental myelopathy associated with a unique form of non-inflammatory spinal angiopathy featuring diffuse enlargement and tortuosity of spinal cord arteries, spinal cord hyperemia, and spinal cord edema (Arterioectatic Spinal Angiopathy of Childhood). The condition was shown to mimic venous congestive myelopathy associated with pediatric spinal cord arteriovenous shunts on MRI but to have distinct pathognomonic findings on catheter-directed angiography. Clinicopathological, genetic, and neuroimaging features, which are described in detail, closely overlap with those of mitochondrial disease.

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Coumarin-based lanthanide complexes of general formula [Ln(coum)3(phen)(H2O)x]·yH2O (Ln-phen, x = 0,1, 0 ≤ y ≤ 1.5; phen = 1,10-phenanthroline; coum = 3-acetyl-4-hydroxylato-coumarin; Ln = Eu, Tb, Dy, Tm) and [Ln(coum)3(batho)]·0.7EtOH (Ln-batho, batho = 4,7-diphenyl-1,10-phenanthroline; Ln = Eu, Tb, Dy, Tm) were synthesized. The magnetic relaxation and photoluminescence behavior of these complexes was compared with that of the related compounds [Ln(coum)3(EtOH)(H2O)]·EtOH (Ln-coum), so as to investigate the effects of incorporating a second chromophore, either the phen or batho ligand, to the original coordination scaffold, provided with three coumarin (coum) ligands. Slow relaxation of the magnetization under H = 0 with moderate activation energies was observed for the Dy-phen (U/kB = 99.1 K) and Dy-batho (U/kB = 67.1 K) compounds, whereas Tb analogues presented field-induced single molecule magnet (SMM) behavior, with U/kB = 11.7 K (16.6 K@3 kOe) for Tb-phen (Tb-batho), respectively. Luminescent emission in the visible range was observed for all the Ln-coumarin based compounds upon ligand sensitization, with high quantum yields of 45 (40%) for Eu-phen (Eu-batho) compounds and 65-76-58% for Tb-coum, phen, batho analogues. Sensitization is mainly provided by the coumarin ligand having the energy difference ΔE between its triplet state T1 and the lanthanide emitting level closest to the optimum, while the second ligand can play either a synergistic or competing sensitizing role. The Tb-phen/batho compounds presented simultaneously SMM and luminescent behavior, with excellent values of the bifunctional figure of merit (ηSMM-QY ∼ 1000% K). The reported compounds represent a new class of bifunctional materials with potential interesting application in various fields.

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The main goal of this work was to evaluate the in vitro biological activity of two ferrocenyl chalcones (FcC-1 and FcC-2) against Haemonchus contortus (third-stage larvae (L3)) and Nacobbus aberrans (second-stage juveniles (J2)). Both compounds were synthesized and characterized by usual spectroscopic methods and their molecular structures were confirmed by single-crystal X-ray diffractometry. Nematode strains were examined in terms of percentage mortality of H. contortus (L3) by the action of FcC-1, which showed an effectivity of 100% at a concentration of 342 µM in 24 h, with EC50 = 20.33 µM and EC90 = 162.76 µM, whereas FcC-2 had an effectivity of 72% at a concentration of 342 µM in 24 h, with EC50 = 167.39 µM and EC90 = 316.21 µM. The effect of FcC-1 against nematode phytoparasite N. aberrans showed a better percentage of 95% at a concentration of 342 µM, with EC50 = 7.18 µM and EC90 = 79.25 µM, whereas the effect of FcC-2 was 87% at 342 µM, with EC50 = 168 µM and EC90 = 319.56 µM at 36 h. After treatment, the scanning electron micrographs revealed deformities in the dorsal flank and posterior part close to the tail of H. contortus L3. They showed moderate in vitro nematicidal activity against H. contortus L3 and N. aberrans J2.

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BACKGROUND: Microdeletions within chromosome 15q13.3 are associated both with a recently recognised syndrome of mental retardation, seizures, and dysmorphic features, and with schizophrenia. METHODS AND RESULTS: Based on routine diagnostic testing of approximately 8200 samples using array comparative genomic hybridisation, we identified 20 individuals (14 children and six parents in 12 families) with microdeletions of 15q13.3. Phenotypes in the children included developmental delay, mental retardation, or borderline IQ in most and autistic spectrum disorder (6/14), speech delay, aggressiveness, attention deficit hyperactivity disorder, and other behavioural problems. Both parents were available in seven families, and the deletion was de novo in one, inherited from an apparently normal parent in four, and inherited from a parent with learning disability and bipolar disorder in two families. Of the 14 children, six in five families were adopted, and DNA was available for only one of these 10 biological parents; the deletion was very likely inherited for one of these families with two affected children. Among the unavailable parents, two mothers were described as having mental retardation, another mother as having "mental illness", and one father as having schizophrenia. We hypothesise that some of the unavailable parents have the deletion. CONCLUSIONS: The occurrence of increased adoption, frequent autism, bipolar disorder, and lack of penetrance are noteworthy findings in individuals with deletion 15q13.3. A high rate of adoption may be related to the presence of the deletion in biological parents. Unconfirmed histories of antisocial behaviours in unavailable biological parents raise the concern that future research may show that deletion 15q13.3 is associated with such behaviours.

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Specific heat measurements performed on high purity vapor-grown Nb(3)Sn crystals show clear features related to both the martensitic and superconducting transitions. Our measurements indicate that the martensitic anomaly does not display hysteresis, meaning that the martensitic transition could be a weak first-order or a second-order thermodynamic transition. Careful measurements of the two transition temperatures display an inverse correlation between them. At low temperature, specific heat measurements show the existence of a single superconducting energy gap feature.

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A variable-temperature (19)F NMR study of the homoleptic bimetallic anionic complexes X(2)[Pt(2)(mu-SC(6)F(5))(2)(SC(6)F(5))(4)] (X = K(+), 1a; Bu(4)N(+), 1b), X(2)[Pt(2)(mu-p-SC(6)HF(4))(2)(p-SC(6)HF(4))(4)] (X = K(+), 2a; Bu(4)N(+), 2b), and X(2)[Pt(2)(mu-p-SC(6)F(4)(CF(3)))(2)(p-SC(6)F(4)(CF(3)))(4)] (X = K(+), 3a; Bu(4)N(+), 3b) demonstrates the occurrence of dynamic processes that give rise to several stereoisomeric species in solution. Experimental evidence suggests that both inversion of configuration at the sulfur bridging atoms and hindered rotation about the carbon-sulfur bond are involved in generating the observed isomers. The solid-state X-ray diffraction structures of compounds 1b, 2b, and 3b show that all three complexes contain planar [Pt(2)(mu-S)(2)] rings with an anti configuration.

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The X-ray single-crystal structure of trilithium antimony tetraoxide, Li(3)SbO(4), is compared with the Rietveld refinement previously reported for the same material. An analysis of the geometric parameters and s.u.'s extracted from both refinements shows that, as expected, powder data yield a less accurate structure. Nevertheless, both refinements give correct geometric parameters within s.u.'s characteristic of each technique.

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We studied 19 symptomatic female carriers of the Duchenne muscular dystrophy (DMD) gene. Most of these dystrophinopathy patients had had an erroneous or ambiguous diagnosis prior to dystrophin immunofluorescence testing. We assessed clinical severity by a standardized protocol, measured X-chromosome inactivation patterns in blood and muscle DNA, and quantitated the dystrophin protein content of muscle. We found that patients could be separated into two groups: those showing equal numbers of normal and mutant dystrophin genes in peripheral blood DNA ("random" X-inactivation), and those showing preferential use of the mutant dystrophin gene ("skewed" X-inactivation). In the random X-inactivation carriers, the clinical phenotype ranged from asymptomatic to mild disability, the dystrophin content of muscle was > 60% of normal, and there were only minor histopathologic changes. In the skewed X-inactivation patients, clinical manifestations ranged from mild to severe, but the patients with mild disease were young (5 to 10 years old). The low levels of dystrophin (< 30% on average) and the severe symptoms of the older patients suggested a poor prognosis for those with skewed X-inactivation, and they all showed morphologic changes of dystrophy. The random inactivation patients showed evidence of biochemical "normalization," with higher dystrophin content in muscle than predicted by the number of normal dystrophin genes. Seventy-nine percent of skewed X-inactivation patients (11/14) showed genetic "normalization," with proportionally more dystrophin-positive nuclei in muscle than in blood. In 65% of the skewed X-inactivation patients, dystrophin was not produced by dystrophin-positive nuclei; an average of 20% of myofiber nuclei were genetically dystrophin-positive but did not produce stable dystrophin. Biochemical normalization seems to be the main mechanism for rescue of fibers from dystrophin deficiency in the random X-inactivation patients. In the skewed X-inactivation patients, genetic normalization is active, but production failure of dystrophin by dystrophin-normal nuclei may counteract any effect of biochemical normalization. In the skewed X-inactivation patients, the remodeling of the muscle through cycles of degeneration and regeneration led to threefold increase in the number of dystrophin-competent nuclei in muscle myofibers (3.3 +/- 4.6), while dystrophin content was on the average 1.5-fold less then expected (-1.54 +/- 3.38). Our results permit more accurate prognistic assessment of isolated female dystrophinopathy patients and provide important data with which to estimate the potential effect of gene delivery (gene therapy) in DMD.

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Two children with hemolytic uremic syndrome and extrapyramidal complications are presented. Neuroimaging studies demonstrated bilateral basal ganglia (striatal) involvement with favorable recovery in both patients. The pathophysiology of the neurologic complications in hemolytic uremic syndrome are probably multifactorial. Our patients suggest a reversible process because both patients recovered clinically and radiographically. Neurologic complications do not always portend a poor prognosis and, in general, involvement of the basal ganglia is associated with favorable outcome.

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The evolution of the diagnosis, etiology, management, and prognosis of neonatal seizures over the past two decades is reviewed. Seizures in the neonate are unique and require special classification. They result from acquired or congenital abnormalities of the central nervous system. Clustering of prognostic parameters, including seizure characteristics, perinatal factors, neurologic signs, cause, and neuroimaging and electroencephalographic abnormalities, allows neonatal seizures to be viewed as clinical syndromes with predictable outcomes.

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We describe a family in which the mother has progressive external ophthalmoplegia with the common 4977 base pair deletion, and her son has a syndrome similar to the Pearson marrow-pancreas syndrome with the identical deletion. This case extends the clinical phenotype of the Pearson syndrome and raises the possibility that developmentally regulated tissue-specific nuclear factors are responsible for the differential phenotypic expression of these two mitochondrial disorders.

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We describe two infants with Menkes disease who had serious gastrointestinal bleeding from solitary gastric polyps. Hemorrhage in one patient was acute and proved fatal. Histopathologic examinations showed submucosal vascular ectasia with mucosal hyperplasia, edema, and ulceration. Gastric polyps may represent an underappreciated clinical abnormality in Menkes disease.

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The skeletal muscle in 3 preterm infants (27, 34, 37 weeks gestation age) born to mothers with myotonic dystrophy showed a syncytial pattern at 27 weeks and a decreasing percentage of satellite cells and central nuclei at 34 and 37 weeks gestation. The fiber type differentiation was observed only at 37 weeks of gestational age. In all 3 cases muscle fibers with multiple acid phosphatase positive were seen. The muscle spindles also had thick capsules and showed lack of morphologic and histochemical differentiation into fiber types. These findings suggest immaturity of skeletal muscle in comparison to the normal. The immaturity of the skeletal muscle correlated well with the prognosis of the patients.

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The muscle spindle in the preterm infants with congenital myotonic dystrophy consisted of numerous, unfused intrafusal fibers. These fibers showed immature myofilament arrangement at 27 weeks but had the nuclear arrangement of bag and chain type. The motor endings were very sparse while prominent sensory endings were seen. At 34-37 weeks, even though the muscle fibers were unfused, the nuclear bag and chain fibers could be differentiated by the presence and absence of M line. Immature motor endings were seen at this stage. In conclusion, the muscle spindle in the preterm infants is immature.

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