Abstract: Genetic diseases can be diagnosed by detection of mutations in causative genes. Protein truncation assays can be used to detect gene products of truncation-type mutations. However, the sensitivity of the assays is often insufficient to detect mutations present in a sample of DNA at a low frequency. Sensitivity can be increased by dividing samples so that the signal generated by a mutant allele comprises a larger fraction of the total alleles than prior to dividing. Thus a previously undetectable signal generated by the mutant allele can become detectable in the assay. Such increased sensitivity permits detection at early stages and in samples having high levels of other alleles.

Abstract: Genetic diseases can be diagnosed by detection of mutations in causative genes. Protein truncation assays can be used to detect gene products of truncation-type mutations. However, the sensitivity of the assays is often insufficient to detect mutations present in a sample of DNA at a low frequency. Sensitivity can be increased by dividing samples so that the signal generated by a mutant allele comprises a larger fraction of the total alleles than prior to dividing. Thus a previously undetectable signal generated by the mutant allele can become detectable in the assay. Such increased sensitivity permits detection at early stages and in samples having high levels of other alleles.

Abstract: Genetic diseases can be diagnosed by detection of mutations in causative genes. Protein truncation assays can be used to detect gene products of truncation-type mutations. However, the sensitivity of the assays is often insufficient to detect mutations present in a sample of DNA at a low frequency. Sensitivity can be increased by dividing samples so that the signal generated by a mutant allele comprises a larger fraction of the total alleles than prior to dividing. Thus a previously undetectable signal generated by the mutant allele can become detectable in the assay. Such increased sensitivity permits detection at early stages and in samples having high levels of other alleles.

Abstract: A virtual concatenation method for optical channels in WDM networks. In transmission, the method includes providing for a plurality of frames, each frame including a byte reserved for a concatenation flag; writing the same predefined value in the concatenation byte of n frames (n=1, 2, 3, . . . ); and transmitting the n frames via n respective channels (?1, ?2, . . . ?n). In reception, it includes receiving the first reference frame at one instant; reading the concatenation byte value of the reference frame; receiving the remaining signal frames after a respective determined time; reading the value of the concatenation byte of the remaining signal frames; and identifying and aligning all the signal frames with the same concatenation byte value compensating the reception times.

Abstract: A method and circuit are described for improving the pointer processing in the case of synchronous digital hierarchy (SDH) or synchronous optical network (SONET) transmission frames with VC4_4c, VC4_16c and VC4_64c concatenated payloads. The technique proposed by the existing Standards provides for two different state diagrams to be used in the pointer processing algorithm. One state diagram is used in the case of a concatenated payload and the other state diagram is used in the case of a non-concatenated payload. However, no solution is disclosed for automatically going from the states of one diagram to the states of the other diagram. The present invention provides a circuit so constructed that it can be used in an apparatus processing STM-4, STM-16 and STM-64 frames, through which the automatic recognition of the VC4-4c, VC4-16c and VC4-64c payload concatenation can be achieved. Therefore, it is not necessary to configure in advance the concatenation or non-concatenation condition.

Abstract: A method and circuit for mismatch detection in SDH-coded frame trace identifiers within a telecommunication network, wherein received trace identifiers are compared with expected trace identifiers in determined locations of the communication network, to detect if a misconnection event has occurred and generate a corresponding alarm signal. The method comprises the steps of: a) validating the received trace identifier (TI) and issuing a corresponding validation signal (CRC7, CNST); b) comparing the received trace identifier (TI) with an expected trace identifier (ETI) and issuing a corresponding validation signal (MTC1, MTC16); c) evaluating the validation signal (CRC7, CNST) and the match signal (MTC1, MTC16); and d) generating a matching state signal (SVAL1, SVAL16) according to the result of the evaluation as per step c), wherein steps a) and b) are executed in parallel.

Abstract: The detection of mutations in fecal DNA represents a promising, non-invasive approach for detecting colorectal cancers in average risk populations. One of the first practical applications of this technology involves the examination of microsatellite markers to sporadic cancers with mismatch repair deficiencies. As such cancers nearly always occur in the proximal colon, this test is useful as an adjunct to sigmoidoscopy, which detects only distal colorectal lesions.

Abstract: Genetic diseases can be diagnosed by detection of mutations in causative genes. Protein truncation assays can be used to detect gene products of truncation-type mutations. However, the sensitivity of the assays is often insufficient to detect mutations present in a sample of DNA at a low frequency. Sensitivity can be increased by dividing samples so that the signal generated by a mutant allele comprises a larger fraction of the total alleles than prior to dividing. Thus a previously undetectable signal generated by the mutant allele can become detectable in the assay. Such increased sensitivity permits detection at early stages and in samples having high levels of other alleles.

Abstract: Improved interface system for synchronous hierarchy telecommunication networks, in particular SDH networks, comprising a high frequency backpanel function, said system comprising at least a central board and one or more input/output peripheral board apt to exchange data frames and control bytes. According to the invention, the data frames contain control bytes and said data frames are bitwise converted before being exchanged between the peripheral boards and the central board.

Abstract: Method for aligning data flows in time division frames, providing for measuring the phase of said input data flow with respect to the phase of a reference signal, for controlling, depending on the measured phase, the delay time introduced by a delay line in said input data flow. According to the invention, it is provided to measure the phase of the input data flow in a time interval substantially corresponding to the transit time of a sure data sequence containing a logic transition, said sure data sequence being comprised in said input data flow.

Abstract: A virtual concatenation method for optical channels in WDM networks is described. In transmission, the method comprises the steps of: providing for a plurality of frames, each frame comprising a byte reserved for a concatenation flag; writing the same predefined value in the concatenation byte of n frames (n=1, 2, 3, . . . ); and transmitting the n frames via n respective channels (&lgr;1, &lgr;2, . . . &lgr;n). In reception, it comprises the steps of: receiving the first reference frame at one instant; reading the concatenation byte value of said reference frame; receiving the remaining signal frames after a respective determined time; reading the value of the concatenation byte of the remaining signal frames; and identifying and aligning all the signal frames with the same concatenation byte value compensating the reception times.

Abstract: The invention relates to a method and circuit arrangement for the realization of the Higher Path Adaptation (HPA) function in Synchronous Digital Hierarchy (SDH) equipment. Such function serves to equalize frequency difference between the synchronisms of signals coming from different nodes of the network. The equalization is carried out through the use of the positive and negative justification technique. The invention, through the alteration of the justification instants, is capable of reducing the capacity of the elastic storage and the generated wander.