Existence of a lens-shaped cluster of surfaces self-shrinking by mean curvature

We rigorously show the existence of a rotationally and centrally symmetric "lens-shaped" cluster of three surfaces, meeting at a smooth common circle, forming equal angles of 120 degrees, self-shrinking under the motion by mean curvature.Comment: 22 pages, 2 figure

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females

Variants in CLCN4, which encodes the chloride/hydrogen ion exchanger CIC-4 prominently expressed in brain, were recently described to cause X-linked intellectual disability and epilepsy. We present detailed phenotypic information on 52 individuals from 16 families with CLCN4-related disorder: 5 affected females and 2 affected males with a de novo variant in CLCN4 (6 individuals previously unreported) and 27 affected males, 3 affected females and 15 asymptomatic female carriers from 9 families with inherited CLCN4 variants (4 families previously unreported). Intellectual disability ranged from borderline to profound. Behavioral and psychiatric disorders were common in both child- and adulthood, and included autistic features, mood disorders, obsessive-compulsive behaviors and hetero- and autoaggression. Epilepsy was common, with severity ranging from epileptic encephalopathy to well-controlled seizures. Several affected individuals showed white matter changes on cerebral neuroimaging and progressive neurological symptoms, including movement disorders and spasticity. Heterozygous females can be as severely affected as males. The variability of symptoms in females is not correlated with the X inactivation pattern studied in their blood. The mutation spectrum includes frameshift, missense and splice site variants and one single-exon deletion. All missense variants were predicted to affect CLCN4's function based on in silico tools and either segregated with the phenotype in the family or were de novo. Pathogenicity of all previously unreported missense variants was further supported by electrophysiological studies in Xenopus laevis oocytes. We compare CLCN4-related disorder with conditions related to dysfunction of other members of the CLC family.E.E. Palmer ... E. Haan ... J. Nicholl, M. Shaw ... J. Gecz ... et al

Properties of smokes emitted during smoke‐chamber tests

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Doppler assessment of hypoxic pulmonary vasoconstriction and susceptibility to high altitude pulmonary oedema.

BACKGROUND--Subjects with previous high altitude pulmonary oedema may have stronger than normal hypoxic pulmonary vasoconstriction. Susceptibility to high altitude pulmonary oedema may be detectable by echo Doppler assessment of the pulmonary vascular reactivity to breathing a hypoxic gas mixture at sea level. METHODS--The study included 20 healthy controls, seven subjects with a previous episode of high altitude pulmonary oedema, and nine who had successfully climbed to altitudes of 6000-8842 m during the 40th anniversary British expedition to Mount Everest. Echo Doppler measurements of pulmonary blood flow acceleration time (AT) and ejection time (ET), and of the peak velocity of the tricuspid regurgitation jet (TR), were obtained under normobaric conditions of normoxia (fraction of inspired oxygen, FIO2, 0.21), of hyperoxia (FIO2 1.0), and of hypoxia (FIO2 0.125). RESULTS--Hypoxia decreased AT/ET by mean (SE) 0.06 (0.01) in the control subjects, by 0.11 (0.01) in those susceptible to high altitude pulmonary oedema, and by 0.02 (0.02) in the successful high altitude climbers. Hypoxia increased TR in the three groups by 0.22 (0.06) (n = 14), 0.56 (0.13) (n = 5), and 0.18 (0.1) (n = 7) m/s, respectively. However, AT/ET and/or TR measurements outside the normal range, defined as mean +/- 2 SD of measurements obtained in the controls under hypoxia, were observed in only two of the subjects susceptible to high altitude pulmonary oedema and in five of the successful high altitude climbers. CONCLUSIONS--Pulmonary vascular reactivity to hypoxia is enhanced in subjects with previous high altitude pulmonary oedema and decreased in successful high altitude climbers. However, echo Doppler estimates of hypoxic pulmonary vaso-constriction at sea level cannot reliably identify subjects susceptible to high altitude pulmonary oedema or successful high altitude climbers from a normal control population

GEWINNUNG MIKROBIELLER BIOMASSE ALS NEBENPRODUKT DER ABWASSERBEHANDLUNG IN ALGENGRÄBEN

In the course of an Israeli-German Project concerning photosynthetic treatment of domestic sewage the "Intensive Algal Wastewater Treatment System (IAWIS)" was developed from existing high-rate pond technology. An IAWIS demonstration plant near Haifa was operated for several years, rendering effluent of high quality. Several tons of algae-bacteria biomass were recovered as a byproduct containing about 50 % of crude protein. Extended feeding tests and toxicological studies in animals proved the microbial biomass to be a suitable feed ingredient. Experiments with high-rate sewage oxidation ponds in the Federal Republic of Germany concerned the treatment of the liquid phase of piggery waste. The removal of BOD, , N and P was efficient, proceeding, however, at lower rate in winter, especially with respect to P removal rate. In order to conserve energy, concentrated liquid wastes should rather be treated by anaerobic/aerobic multistage processes in which high-rate oxidation ponds may be used as the aerobic step. Excess quantities of liquid manure are suggested as target substrates. Improved removal of COD is one of the aims of ongoing studies

Nonsyndromic x-linked mental retardation: where are the missing mutations?

Analysis of linkage intervals from 125 unrelated families with nonsyndromic X-linked mental retardation (NS-XLMR) has revealed that the respective gene defects are conspicuously clustered in defined regions of the human X-chromosome, with approximately 30% of all mutations being located on the proximal Xp. In 83% of these families, underlying gene defects are not yet known. Our observations should speed up the search for mutations that are still missing and pave the way for the molecular diagnosis of this common disorder.Hans-Hilger Ropers, Maria Hoeltzenbein, Vera Kalscheuer, Helger Yntema, Ben Hamel, Jean-Pierre Fryns, Jamel Chelly, Michael Partington, Jozef Gecz and Claude Morain

Twenty-day cerebral and umbilical Doppler monitoring on a growth retarded and hypoxic fetus1

In one growth retarded and hypoxic fetus, the cerebral and umbilical hemodynamic changes were assessed (by Doppler), daily over 20 days. The fetal brain was investigated by magnetic resonance imaging (MRI) close to the delivery, and because the fetus died at delivery we performed an anatomical study of the fetal brain. The evolution of the fetal hemodynamics (day by day) was interpreted according to the MRI findings and the clinical findings. During the period of observation (under sustained hypoxia) the fetal deterioration was characterized by: (a) the progressive development of the oligohydramnios (190d), (b) the disappearance of the vascular reactivity (eight successive cerebral resistance index (RI) constant at 194d), (c) the occurrence of fetal heart rate decelerations (199d), and finally (d) the increase of the cerebral vascular resistances with reduction of the brain perfusion (204d). The anatomical study of the brain showed a periventricular congestion however the histology revealed hypoxic lesions like gliosis and a marked vasodilation of the anterior and middle cerebral arteries. Finally in addition to single Doppler measurements performed 1 week before delivery (for prediction of fetal outcome), one can suggest to use the 'loss of fluctuation of the cerebral RI' to identify the beginning of the period of very high risk for the fetus. Such hypothesis may have to be confirmed on a larger number of pathological pregnancie

TATA-BOX at a Glance

In this chapter we present very briefly the main framework used to establish the TATA-BOX project and the general methodology developed to codesign the territorial agroecological transition

Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1

Two unrelated mildly retarded males with inversions of the X chromosome and non-specific mental retardation (MRX) are described. Case 1 has a pericentric inversion 46,Y,inv(X)(p11.1q13.1) and case 2 a paracentric inversion 46,Y,inv(X) (q13.1q28). Both male patients have severe learning difficulties. The same chromosomal abnormalities were found in their mothers who are intellectually normal. Fluorescence in situ hybridisation mapping showed a common area of breakage of each of the inverted chromosomes in Xq13.1 near DXS131 and DXS162. A detailed long range restriction map of the breakpoint region was constructed using YAC, PAC, and cosmid clones. We show that the two inverted chromosomes break within a short 250 kb region. Moreover, a group of ESTs corresponding to an as yet uncharacterised gene was mapped to the same critical interval. We hypothesise that the common inversion breakpoint region of the two cases in Xq13.1 may contain a new MRX gene.


Keywords: inverted X chromosome; non-specific X linked mental retardation; XLMR; MR