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Sensor networks in the home can enable a variety of applications such as home monitoring and control, home security, home energy management, and home health care. Current stateoftheart solutions typically target a single sensor application and do not take advantage of the established infrastructure of the broadband service provider, such as a telco operator or cable provider. In this paper, we propose an alternative solution that provides a comprehensive and scalable service platform for multiple parallel home sensor applications, even from third party providers. We highlight the advantages that a broadband service provider holds for providing these emerging high margin services, and derive a suitable endtoend network architecture. We describe the functions of each of the main components and some of their interfaces, and pay particular attention to one of the key technological challenges: the commissioning and management of the home sensor network. In particular, we describe a laboratory implementation that demonstrates the feasibility of automatic commissioning and remote management of the sensor network. © 2009 AlcatelLucent.

To report the audiometric and radiologic findings in the first otosclerosis family linked to OTSC5.

Zusammenfassung Komatöse, „Vegatative-state-“ (VS-), „Minimally-conscious-state-“ (MCS-) oder Locked-in-Patienten stellen ein Problem für die Diagnose, Prognose, Behandlung und tägliche Betreuung auf der Intensivstation dar. Am Patientenbett ist die Evaluation möglicher kognitiver Funktionen schwierig, weil willentliche Bewegungen möglicherweise sehr gering, unregelmäßig oder für die Patienten schnell erschöpfend sind. Funktionelle neurologische Bildgebungsverfahren können die klinische Einschätzung von Patienten mit veränderten Bewusstseinszuständen nicht ersetzen. Dennoch kann objektiv beschrieben werden, wie stark die zerebrale Aktivität und ihre regionale Verteilung in Ruhe und unter Stimulation vom Normalzustand abweichen. Durch Quantifizierung der Gehirnaktivität können Patienten differenziert werden, die sich manchmal nur durch ein kurzes und unvollständiges Blinzeln voneinander unterscheiden. Nach unserer Meinung werden Positronenemissionstomographie (PET) und die künftige Nutzung von „functional magnetic resonance imaging“ (fMRI) unser Verständnis schwer hirngeschädigter Patienten substanziell erweitern.

IntroductionAgenesis of corpus callosum (ACC) is commonly diagnosed prenatally. When isolated, it appears to carry a good prognosis but studies are often retrospective and follow-up short. We report a prospective study of 17 children (11 boys, 6 girls) with prenatally diagnosed isolated ACC.MethodsNeuropsychological evaluation was performed each year and results at the ages of 2, 4, and 6 years were compared.ResultsFebrile seizures occurred in 3 patients. Median intellectual quotient (IQ) was within the normal range (80–109) and nonrelated to partial or complete ACC, sex, or febrile seizures. Lower median IQ was significantly related to low cultural status. With age, the number of children with IQ in the lower range (80–89) increased and slowness, attentional troubles, and instability appeared.ConclusionThis study demonstrates that if outcome of isolated ACC is favorable, a long follow-up is necessary: with age, IQ in the lower range and behavioral troubles are linked to difficulties in school.

Familial porencephaly is a rare condition usually transmitted as an autosomal dominant trait with incomplete penetrance. We describe a new family in which six members across four generations had congenital hemiplegia. Cerebral imaging was performed in three patients and showed porencephaly in all cases. In order to provide effective genetic counseling, three asymptomatic carriers were investigated by cerebral computerized tomography (three patients) and cerebral magnetic resonance imaging (one patient). These investigations failed to show any congenital abnormalities. We conclude that cerebral imaging is unreliable to detect obligate carriers of familial porencephaly. © 2002 Wiley-Liss, Inc.

Two familial X-linked dominant syndromes of cortical maldevelopment have recently been described: double cortex/lissencephaly syndrome and bilateral periventricular nodular heterotopia. We report on 12 kindreds with familial perisylvian polymicrogyria (FPP) presenting at 10 centers, examine the clinical presentation in these familial cases, and propose a possible mode of inheritance. The clinical and radiological pattern was variable among the 42 patients, with clinical differences among the families and even within members of the same family. Pseudobulbar signs, cognitive deficits, epilepsy, and perisylvian abnormalities on imaging studies were not found in all patients. When present, they displayed a spectrum of severity. The only clear correlation in this study was between bilateral imaging findings and abnormal tongue movements and/or pronounced dysarthria. Most of the families provided evidence suggestive of, or compatible with, X-linked transmission. On the other hand, the pedigrees of 2 families ruled out X-linked inheritance. The most likely mode of inheritance for these 2 families was autosomal dominant with decreased penetrance; however, autosomal recessive inheritance with pseudodominance could not be ruled out in 1 family. We conclude that FPP appears to be genetically heterogeneous. However, most of the families probably represent a third previously undescribed X-linked syndrome of cortical maldevelopment. Ann Neurol 2000;48:39–48

Twenty-five patients or 50 hips with bilateral Legg-Calvé-Perthes disease were reviewed at skeletal maturity in the orthopaedic departments of Leuven, Belgium, and Montpellier, France. The two groups were very similar as to age at onset of the disease, severity of involvement, and classification at skeletal maturity. The results seem to indicate that bilateral disease runs a more severe course as compared with unilateral Legg-Calvé-Perthes disease. Eighty percent presented with a Catterall group III and IV and Herring classification B and C. Forty-eight percent rated as Stulberg 4 and 5 at skeletal maturity.

Time-dose factors such as fractionation sensitivity (α/β) can sometimes be estimated from clinical data, when there is a wide variation in dose, fraction size, treatment time, etc. This report summarizes estimates of fractionation parameters derived from clinical results. Consistent with the animal data, α/β is higher for acutely responding than for late-responding normal tissues. While many human tumors seem to be characterized by high α/β values, there are exceptions (e.g. melanomas). Repair kinetics may be slower in human than in rodent skin and mucosa, but there are no hard and fast estimates of the repair halftime. Regeneration in head and neck tumors is equivalent to a daily dose of 1 Gy or less, while in the mucosa it is equivalent to approximately 1·8 Gy/day.

Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) in a 30-year-old woman is reported. At 21 weeks of pregnancy, routine fetal ultrasounds showed the presence of apparently isolated bilateral club feet. Fetal karyotyping documented an interstitial deletion of the long arm of chromosome 5: 46,XX,del(5) (q15q31) in all 50 analyzed metaphases. Because such deletion is associated with severe psychomotor retardation, the pregnancy was terminated. Postmortem karyotyping of skin fibroblasts confirmed the presence of this interstitial de novo deletion in all mitoses. The breakpoints on 5q were analyzed by fluorescent in situ hybridization and were localized at 5q15 and q31.1. This case illustrates the importance of fetal karyotyping in cases of isolated club feet. At autopsy, the fetus presented had minor anomalies and contractures of knee and hip joints. These clinical findings could fit the diagnosis of congenital contractural arachnodactyly (CCA) or Beals syndrome. CCA is caused by a defect in the fibrillin-2 (FBN2) gene. This gene was previously mapped on 5q23-31. Our molecular studies of both parents and the fetus, using an intragenic polymorphic GT repeat, showed that the FBN2 gene was deleted in the fetus and that the de novo interstitial deletion occurred on the paternally inherited chromosome 5. Thus, CCA may be caused by a loss of function of the FBN2 gene. Clinical findings in this fetus and those of other described cases with interstitial 5q deletions are reviewed, and similarities with CCA are stressed. Am. J. Med. Genet. 77:188–197, 1998. © 1998 Wiley-Liss, Inc.

Evidence for a dysfunction of the N-methyl-D-aspartate (NMDA) type of ionotropic glutamate receptors in schizophrenic patients, comes from neurochemical and clinical pharmacologic data. Therefore, the NMDAR1gene can be regarded as an interesting candidate gene for schizophrenia. Several groups have tried to identify variants of this gene in schizophrenic patients in different, however not in German, populations. We sought to identify sequence changes of potential functional relevance in genomic DNA from 46 German unrelated schizophrenic patients by means of single-strand conformation analysis. No mutations of likely functional relevance were observed. We identified two synonymous coding Single Nucleotide Polymorphisms (cSNPs) in exons 6 and 7, and two SNPs in exon-flanking intronic sequences. Genotype distribution of these four SNPs was not significantly different between schizophrenic patients and controls. Our results suggest that the NMDAR1 subunit is not frequently involved in the development of schizophrenia in the German population.