Home sleep studies in children with neurodisabilities: success rates and parental perception.

Home sleep studies in children with neurodisabilities have a high success rate (85.4% in our cohort), particularly in patients with limited mobility, have the advantage of reducing the burden of hospital admissions and are the family preferred option https://bit.ly/46t8aWN.

Aneurysmal wall imaging in a case of cortical superficial siderosis and multiple unruptured aneurysms.

We report a case of interhemispheric and bifrontal cortical superficial siderosis in association with two intracranial aneurysms. The patient had no clinical history suggestive of aneurysm rupture, no feature of amyloid angiopathy or other apparent etiology for cortical siderosis. We performed high resolution brain MRI with dark blood T1 sequences before and after IV contrast injection. An anterior communicating aneurysm showed partial wall enhancement on the posterior wall whereas a left posterior communicating aneurysm did not. In the light of recent reports of the association of wall enhancement with unstable aneurysms, we considered wall enhancement to be a marker of inflammation and remodeling of the aneurysm wall, resulting in chronic hemorrhagic suffusion in the subarachnoid spaces. To our knowledge, this is the first report offering proof for a possible link between apparently unruptured aneurysms and cortical siderosis.

Aneurysmal wall imaging in a case of cortical superficial siderosis and multiple unruptured aneurysms.

We report a case of interhemispheric and bifrontal cortical superficial siderosis in association with two intracranial aneurysms. The patient had no clinical history suggestive of aneurysm rupture, no feature of amyloid angiopathy or other apparent etiology for cortical siderosis. We performed high resolution brain MRI with dark blood T1 sequences before and after IV contrast injection. An anterior communicating aneurysm showed partial wall enhancement on the posterior wall whereas a left posterior communicating aneurysm did not. In the light of recent reports of the association of wall enhancement with unstable aneurysms, we considered wall enhancement to be a marker of inflammation and remodeling of the aneurysm wall, resulting in chronic hemorrhagic suffusion in the subarachnoid spaces. To our knowledge, this is the first report offering proof for a possible link between apparently unruptured aneurysms and cortical siderosis.

Embryonic stem cell-derived neural progenitors as non-tumorigenic source for dopaminergic neurons.

AIM: To find a safe source for dopaminergic neurons, we generated neural progenitor cell lines from human embryonic stem cells. METHODS: The human embryonic stem (hES) cell line H9 was used to generate human neural progenitor (HNP) cell lines. The resulting HNP cell lines were differentiated into dopaminergic neurons and analyzed by quantitative real-time polymerase chain reaction and immunofluorescence for the expression of neuronal differentiation markers, including beta-III tubulin (TUJ1) and tyrosine hydroxylase (TH). To assess the risk of teratoma or other tumor formation, HNP cell lines and mouse neuronal progenitor (MNP) cell lines were injected subcutaneously into immunodeficient SCID/beige mice. RESULTS: We developed a fairly simple and fast protocol to obtain HNP cell lines from hES cells. These cell lines, which can be stored in liquid nitrogen for several years, have the potential to differentiate in vitro into dopaminergic neurons. Following day 30 of differentiation culture, the majority of the cells analyzed expressed the neuronal marker TUJ1 and a high proportion of these cells were positive for TH, indicating differentiation into dopaminergic neurons. In contrast to H9 ES cells, the HNP cell lines did not form tumors in immunodeficient SCID/beige mice within 6 mo after subcutaneous injection. Similarly, no tumors developed after injection of MNP cells. Notably, mouse ES cells or neuronal cells directly differentiated from mouse ES cells formed teratomas in more than 90% of the recipients. CONCLUSION: Our findings indicate that neural progenitor cell lines can differentiate into dopaminergic neurons and bear no risk of generating teratomas or other tumors in immunodeficient mice.

PET follow-up in a case of anti-NMDAR encephalitis: arguments for cingulate limbic encephalitis.

BACKGROUND: The lack of specific MRI abnormalities in anti-NMDA receptor encephalitis makes the identification of the most affected areas difficult. Functional neuroimaging could be useful to identify brain dysfunction associated with psychiatric symptoms, but few precise data are available up to now. CASE STUDY: A 27-year-old woman was referred for recent behavioural changes and jerks of the right foot. Serial left fronto-temporal seizures were recorded. Identification of anti-NMDA receptor antibodies in CSF indicated a diagnosis of anti-NMDA receptor encephalitis. Two foci of hypermetabolism, in the left prefrontal cortex and the anterior cingulate cortex, were identified using 18-fluorodeoxyglucose PET and both disappeared after treatment. Brain MRI was normal, except for a mild left prefrontal hypersignal. CONCLUSIONS: The increase in marker uptake in motor and premotor regions in our case probably corresponds to epileptic activity. Our data suggest that the anterior cingulate cortex could play an important role in psychiatric symptoms. Other studies are needed to better understand the pathophysiology of anti-NMDA receptor encephalitis.

Generation of knockout mice expressing a GFP-reporter under the control of the Lmx1a locus.

Lmx1a is a member of the LIM homeodomain containing transcription factors and plays an important role during embryonic development. Specifically, it is required for the proper formation of several structures in the central nervous system, such as the roof plate, the cerebellum, and the inner ear. All these defects may contribute to the neurological phenotype observed in dreher mice, lacking functional Lmx1a protein. Interestingly, this factor was also found to promote midbrain dopaminergic neuron fate. We have introduced Green fluorescent protein (GFP) coding sequences into the Lmx1a locus by homologous recombination, and created knockout mice where GFP recapitulates the Lmx1a endogenous expression pattern.

Structural basis for the function of the ribosomal L7/12 stalk in factor binding and GTPase activation.

The L7/12 stalk of the large subunit of bacterial ribosomes encompasses protein L10 and multiple copies of L7/12. We present crystal structures of Thermotoga maritima L10 in complex with three L7/12 N-terminal-domain dimers, refine the structure of an archaeal L10E N-terminal domain on the 50S subunit, and identify these elements in cryo-electron-microscopic reconstructions of Escherichia coli ribosomes. The mobile C-terminal helix alpha8 of L10 carries three L7/12 dimers in T. maritima and two in E. coli, in concordance with the different length of helix alpha8 of L10 in these organisms. The stalk is organized into three elements (stalk base, L10 helix alpha8-L7/12 N-terminal-domain complex, and L7/12 C-terminal domains) linked by flexible connections. Highly mobile L7/12 C-terminal domains promote recruitment of translation factors to the ribosome and stimulate GTP hydrolysis by the ribosome bound factors through stabilization of their active GTPase conformation.

Phospholipid hydroperoxide glutathione peroxidase: expression pattern during testicular development in mouse and evolutionary conservation in spermatozoa.

Phospholipid hydroperoxide glutathione peroxidase (PHGPx) is a selenoprotein belonging to the family of glutathione peroxidases and has been implicated in antioxidative defense and spermatogenesis. PHGPx accounts for almost the entire selenium content of mammalian testis. In an attempt to verify the expression pattern of PHGPx, testes of mouse mutants with arrest at different stages of germ cell development and testes of mice at different ages were subjected to immunostaining with a monoclonal anti-PHGPx antibody. PHGPx was detected in Leydig cells of testes in all developmental stages. In the seminiferous tubuli, the PHGPx staining was first observed in testes of 21-day-old mice which is correlated with the appearance of the first spermatids. This result was confirmed when the testes of mutant mice with defined arrest of germ cell development were used. An immunostaining was observed in the seminiferous tubuli of olt/olt and qk/qk mice which show an arrest at spermatid differentiation. In Western blot analysis of proteins extracted from testes of mutant mice and from developing testes, two signals at 19- and 22-kDa were observed which confirm the existence of two PHGPx forms in testicular cells. In mouse spermatozoa, a subcellular localization of PHGPx and sperm mitochondria-associated cysteine-rich protein (SMCP) was demonstrated, indicating the localization of PHGPx in mitochondria of spermatozoa midpiece. For verifying the midpiece localization of PHGPx in other species, spermatozoa of Drosophila melanogaster, frog, fish, cock, mouse, rat, pig, bull, and human were used in immunostaining using anti-PHGPx antibody. A localization of PHGPx was found in the midpiece of spermatozoa in all species examined. In electronmicroscopical analysis, PHGPx signals were found in the mitochondria of midpiece. These results indicate a conserved crucial role of PHGPx during sperm function and male fertility.