Objective: To verify whether features of CNS involvement can be detected in SLE patients without overt neuropsychiatric manifestations. Methods: 114 SLE patients who had never received a diagnosis of neuropsychiatric lupus (never-NPSLE) were studied and compared to 65 SLE patients with known neuropsychiatric involvement (NPSLE). The study relied on evaluation of neurocognitive functions by means of a battery of neuropsychological tests, on psychiatric and neuropsychological assessments and on neuroimaging studies (computed tomography, magnetic resonance, single photon emission computed tomography (SPECT)). Results: Clinical features, including disease durationaactivity and pharmacological therapy, of never-NPSLE and NPSLE patients were similar. Short-term and long-term memory, visuo-spatial and verbal information processing were similarly compromised in never-NPSLE and in NPSLE patients; only attention was signi®cantly more compromised in NPSLE patients. Psychiatric morbidity was higher than expected in never-NPSLE patients, although less than in the control neuropsychiatric group. Ischemic lesions, multiple small high intensity lesions and cortical atrophy, detected by CT and MR scans, as well as abnormal SPECT were also frequently detected in never-NPSLE patients. Interestingly, left parietal and occipital area hypoperfusion by SPECT was signi®cantly more frequent in the patients with impaired visuo-spatial intelligence and short-term memory.Conclusions: Most abnormalities detected by available diagnostic tools and characteristics of neuropsychiatric SLE are also present in non-symptomatic patients. They may derive from an unexpected widespread involvement of the CNS and are not per se suf®cient, in the absence of clinical manifestations, for a diagnosis of neuropsychiatric SLE.

The two-pore-domain potassium (K2P) channels contribute to background (leak) potassium currents maintaining the resting membrane potential to play an important role in regulating neuronal excitability. As such they may contribute to nociception and the mechanism of action of volatile anesthetics. In the present study, we examined the protein expression pattern of the K2P channel TRESK in the rat central nervous system (CNS) and peripheral nervous system (PNS) by immunohistochemistry. The regional distribution expression pattern of TRESK has both similarities and significant differences from that of other K2P channels expressed in the CNS. TRESK expression is broadly found in the brain, spinal cord and dorsal root ganglia (DRG). TRESK expression is highest in important CNS structures, such as specific cortical layers, periaqueductal gray (PAG), granule cell layer of the cerebellum, and dorsal horn of the spinal cord. TRESK expression is also high in small and medium sized DRG neurons. These results provide an anatomic basis for identifying functional roles of TRESK in the rat nervous system.

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Backgrcound-We investigated the role of tandem pore domain potassium channel (K 2P ) TRESK in neurobehavioral function and volatile anesthetic sensitivity in genetically modified mice.Methods-Exon III of the mouse TRESK gene locus was deleted by homologous recombination using a targeting vector. The genotype of bred mice (wildtype, knockout or heterozygote) was determined using the polymerase chain reaction. Morphologic and behavioral evaluations of TRESK knockout mice were compared to wildtype littermates. Sensitivity of bred mice to isoflurane, halothane, sevoflurane and desflurane were studied by determining the minimum alveolar concentration preventing movement to tail clamping in 50% of each genotype.Results-TRESK knockout mice had normal development and behavior except for decreased number of inactive periods and increased thermal pain sensitivity (20% decrease in latency with hot plate test). TRESK knockout mice showed a statistically significant 8% increase in isoflurane minimum alveolar concentration compared to wildtype littermates; sensitivity to other volatile anesthetics was not significantly different. Spontaneous mortality of TRESK knockout mice following initial anesthesia testing was nearly threefold higher than that of wildtype littermates.Conclusions-TRESK alone is not critical for baseline central nervous system function but may contribute to the action of volatile anesthetics. The inhomogenous change in anesthetic sensitivity corroborates findings in other K 2P knockout mice and supports the idea that the mechanism of volatile anesthetic action involves multiple targets. Although it was not shown in this study, a compensatory effect by other K 2P channels may also contribute to these observations.

Use of intravascular contrast medium significantly increases the effectiveness of MR angiography in differentiating active and inactive disease.

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We present a 5-year-old female with a distinctive phenotype comprising global developmental delays, pre-and post-natal growth restriction, striking joint laxity with soft skin, and scoliosis. She had a triangular facies, a prominent forehead, proptosis, a small nose, and a small jaw. Her ocular findings included corneal clouding, colobomas of the iris and optic nerve, and posterior subcapsular cataracts. Exome sequencing identified homozygosity for c.970T>A, predicting p.(Cys324Ser), in the xylosylprotein 4-beta-galactosyltransferase, polypeptide 7 (B4GALT7) gene. Variant segregation was consistent with autosomal recessive inheritance and the missense substitution was predicted to be pathogenic. As the phenotype of this child is consistent with that described in other "linkeropathy" syndromes, we conclude that p.(Cys324Ser) is likely to be disease-causing. The eye features were a notable part of this child's presentation and mutations in the linkeropathy genes (XYLT1, XYLT2, B4GALT7, B3GALT6, and B3GAT3) can be associated with ocular findings, including blue sclerae, refractive errors, corneal clouding, strabismus, nystagmus, cataracts, glaucoma, and retinal abnormalities, including retinal detachment. The corneal clouding and cataracts in this patient may thus have been caused by her B4GALT7 mutation, but the colobomas are a novel phenotypic finding. However, a different genetic etiology or a role for modifying genetic factors has not been excluded in the etiology of her colobomas.

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