Aglossia-adactylia sequence and Moebius syndrome involvement.

Adactylia and limb deficiencies are major congenital malformations can be resulted from a long list of etiological factors, in our department the vast majority of these disorders are genetically determined, and only a small fraction of it proved to be sporadic. We report on a-9-months old male child with Aglossia- Adactylia sequence associated with Moebius syndrome involvement, which in our patient is manifesting itself by left facial nerve and bilateral abducens nerve palsies, total absent of the tongue and absent digits of hands and feet respectively.Key words: Aglossia-adactylia sequence, Moebius syndrome, Hanhart syndrome, facial nerve palsy, and abducens nerve pals

Congenital dysplastic hips, spinal column abnormalities, fractures and progressive neurological manifestations in Tunisian family with cockayne syndrome

We report an inbred, Tunisian family in which cousins have the definite diagnosis of Cockayne syndrome. Intervening members in this family, who are intellectually normal, though, most are manifesting complications of hip dysplasia (development of dysplastic arthrosis) and various vertebral abnormalities. We presume that these are carriers who manifest dreadful bone features rather than the clinical phenotype of Cockayne syndrome, the mode of inheritance of the abnormal gene in this family is suggesting autosomal dominant, to our knowledge the family reported with such skeletal abnormalities in association to Cockayne syndrome is the largest in comparison to the international literatures.Keywords: cockayne syndrome, skeletal abnormalitiesRésuméNous faisons un rapport sur un cas résultant de croisements entre animaux de même souche, une famille tunisiene chez laquelle les cousins avaient un diagnostic précis du syndrome de cockaye. Les membres de cette famille qui interviennent et qui sont sains intellectuellement bien que la plupart des patients manifestaient des complications de la hanche dysplasie (devéloppement d\'arthrose dysplastique) et des anomalies vertébrales. Nous supposons qu\'elles sont des porteuses qui manifestent des traits épouvantables d\'os plutôt que le phénotype clinique de syndrone de cockaye, la méthode d\'héritage de ce gêne anomalie chez cette famille pourrait être autosome dominant. Pour autant que nous sachons, la famille s\'est présentée atteinte d\'une telle anomalité squelettique en association avec le syndrome de cockaye est le plus grand par rapport à la littérature internationale.Mots clés: syndrome de cockaye, anomalité squelettiqueAnnals of African Medicine Vol. 4(2) 2005: 83–8

Congenital Dysplastic Hips, Spinal Column Abnormalities, Fractures and Progressive Neurological Manifestations in Tunisian Family with Cockayne Syndrome

We report an inbred, Tunisian family in which cousins have the definite diagnosis of Cockayne syndrome. Intervening members in this family, who are intellectually normal, though, most are manifesting complications of hip dysplasia (development of dysplastic arthrosis) and various vertebral abnormalities. We presume that these are carriers who manifest dreadful bone features rather than the clinical phenotype of Cockayne syndrome, the mode of inheritance of the abnormal gene in this family is suggesting autosomal dominant, to our knowledge the family reported with such skeletal abnormalities in association to Cockayne syndrome is the largest in comparison to the international literatures. A correction to this article has been issued in Annals of African Medicine, Vol. 4, No. 3, 2005, pp. 141. Please see the full text HTML document for further details.Nous faisons un rapport sur un cas r\ue9sultant de croisements entre animaux de m\ueame souche, une famille tunisiene chez laquelle les cousins avaient un diagnostic pr\ue9cis du syndrome de cockaye. Les membres de cette famille qui interviennent et qui sont sains intellectuellement bien que la plupart des patients manifestaient des complications de la hanche dysplasie (dev\ue9loppement d'arthrose dysplastique) et des anomalies vert\ue9brales. Nous supposons qu'elles sont des porteuses qui manifestent des traits \ue9pouvantables d'os plut\uf4t que le ph\ue9notype clinique de syndrone de cockaye, la m\ue9thode d'h\ue9ritage de ce g\ueane anomalie chez cette famille pourrait \ueatre autosome dominant. Pour autant que nous sachons, la famille s'est pr\ue9sent\ue9e atteinte d'une telle anomalit\ue9 squelettique en association avec le syndrome de cockaye est le plus grand par rapport \ue0 la litt\ue9rature international

Inhibition of Wnt/β-Catenin Signaling by a Soluble Collagen-Derived Frizzled Domain Interacting with Wnt3a and the Receptors Frizzled 1 and 8

The Wnt/β-catenin pathway controls cell proliferation, death and differentiation. Several families of extracellular proteins can antagonize Wnt/β-catenin signaling, including the decoy receptors known as secreted frizzled related proteins (SFRPs), which have a cysteine-rich domain (CRD) structurally similar to the extracellular Wnt-binding domain of the frizzled receptors. SFRPs inhibit Wnt signaling by sequestering Wnts through the CRD or by forming inactive complexes with the frizzled receptors. Other endogenous molecules carrying frizzled CRDs inhibit Wnt signaling, such as V3Nter, which is proteolytically derived from the cell surface component collagen XVIII and contains a biologically active frizzled domain (FZC18) inhibiting in vivo cell proliferation and tumor growth in mice. We recently showed that FZC18 expressing cells deliver short-range signals to neighboring cells, decreasing their proliferation in vitro and in vivo through the Wnt/β-catenin signaling pathway. Here, using low concentrations of soluble FZC18 and Wnt3a, we show that they physically interact in a cell-free system. In addition, soluble FZC18 binds the frizzled 1 and 8 receptors' CRDs, reducing cell sensitivity to Wnt3a. Conversely, inhibition of Wnt/β-catenin signaling was partially rescued by the expression of full-length frizzled 1 and 8 receptors, but enhanced by the expression of a chimeric cell-membrane-tethered frizzled 8 CRD. Moreover, soluble, partially purified recombinant FZC18_CRD inhibited Wnt3a-induced β-catenin activation. Taken together, the data indicate that collagen XVIII-derived frizzled CRD shifts Wnt sensitivity of normal cells to a lower pitch and controls their growth

A Cryptic Frizzled Module in Cell Surface Collagen 18 Inhibits Wnt/β−Catenin Signaling

Collagens contain cryptic polypeptide modules that regulate major cell functions, such as cell proliferation or death. Collagen XVIII (C18) exists as three amino terminal end variants with specific amino terminal polypeptide modules. We investigated the function of the variant 3 of C18 (V3C18) containing a frizzled module (FZC18), which carries structural identity with the extracellular cysteine-rich domain of the frizzled receptors. We show that V3C18 is a cell surface heparan sulfate proteoglycan, its topology being mediated by the FZC18 module. V3C18 mRNA was expressed at low levels in 21 normal adult human tissues. Its expression was up-regulated in fibrogenesis and in small well-differentiated liver tumors, but decreased in advanced human liver cancers. Low FZC18 immunostaining in liver cancer nodules correlated with markers of high Wnt/β−catenin activity. V3C18 (Mr = 170 kD) was proteolytically processed into a cell surface FZC18-containing 50 kD glycoprotein precursor that bound Wnt3a in vitro through FZC18 and suppressed Wnt3a-induced stabilization of β−catenin. Ectopic expression of either FZC18 (35 kD) or its 50 kD precursor inhibited Wnt/β−catenin signaling in colorectal and liver cancer cell lines, thus downregulating major cell cycle checkpoint gatekeepers cyclin D1 and c-myc and reducing tumor cell growth. By contrast, full-length V3C18 was unable to inhibit Wnt signaling. In summary, we identified a cell-surface signaling pathway whereby FZC18 inhibits Wnt/β−catenin signaling. The signal, encrypted within cell-surface C18, is released by enzymatic processing as an active frizzled cysteine-rich domain (CRD) that reduces cancer cell growth. Thus, extracellular matrix controls Wnt signaling through a collagen-embedded CRD behaving as a cell-surface sensor of proteolysis, conveying feedback cues to control cancer cell fate

The effect of low temperature and low light intensity on nutrient removal from municipal wastewater by purple phototrophic bacteria (PPB)

There has been increased interest in alternative wastewater treatment systems to improve nutrient recovery while achieving acceptable TCOD, TN, and TP discharge limits. Purple phototrophic bacteria (PPB) have a high potential for simultaneous nutrient removal and recovery from wastewater. This study evaluated the PPB performance and its growth at different operating conditions with a focus on HRT and light optimization using a continuous-flow membrane photobioreactor (PHB). Furthermore, the effect of low temperature on PPB performance was assessed to evaluate the PPB’s application in cold-climate regions. In order to evaluate PPB performance, TCOD, TN, and TP removal efficiencies and Monod kinetic parameters were analyzed at different HRTs (36, 18, and 9 h), at temperatures of 22°C and 11°C and infrared (IR) light intensities of 50, 3, and 1.4 Wm-2. The results indicated that low temperature had no detrimental impact on PPB’s performance. The photobioreactor (PHB) with cold-enriched PPB has a high potential to treat municipal wastewater with effluent concentrations below target limits (TCOD˂ 50mgL-1, TN˂10 mgL-1, and TP˂1 mgL-1). Monod kinetic parameters Ks, K, Y, and Kd were estimated at 20-29 mgCODL-1, 1.6-1.9 mgCOD(mgVSS.d)-1, 0.47 mgVSS mgCOD-1, and 0.07-0.08 d-1 at temperatures of 11°C-22°C respectively. The results of the steady-state mass balances showed TCOD, TN, and TP recoveries of 80%-86%, which reflected PPB’s substrate and nutrient assimilation. Previous studies utilized high light intensities (˃ 50 Wm-2) to provide PPB with the maximum energy required for its growth. In order to enable the PPB technology as a practical approach in municipal wastewater treatment, light intensity must be optimized. Based on the literature, there is no study on PPB performance at low light intensities using a continuous-flow membrane photobioreactor. The effect of low light intensities of 3, and 1.4 Wm-2 on PPB performance was addressed in this study. The results indicated that PPB at a light intensity as low as 1.4 Wm-2 were able to treat municipal wastewater with effluent concentrations below above-mentioned target limits. Light intensity (1-50 Wm-2) had no detrimental impact on PPB performance and Monod kinetic parameters. This study showed that the optimized light intensity required for municipal wastewater treatment with PPB is significantly lower than previously indicated in the literature. The energy consumptions attributed to PHB’s illumination of 3, and 1.4 Wm-2 were determined to be 1.44, and 0.67 kWh/m3 which is significantly lower than previous studies (˃ 24 kWh/m3)

Congenital dysplastic hips, spinal column abnormalities, fractures and progressive neurological manifestations in Tunisian family with Cockayne syndrome

We report an inbred, Tunisian family in which cousins have the definite diagnosis of Cockayne syndrome. Intervening members in this family, who are intellectually normal, though, most are manifesting complications of hip dysplasia (development of dysplastic arthrosis) and various vertebral abnormalities. We presume that these are carriers who manifest dreadful bone features rather than the clinical phenotype of Cockayne syndrome, the mode of inheritance of the abnormal gene in this family is suggesting autosomal dominant, to our knowledge the family reported with such skeletal abnormalities in association to Cockayne syndrome is the largest in comparison to the international literatures. A correction to this article has been issued in Annals of African Medicine, Vol. 4, No. 3, 2005, pp. 141. Please see the full text HTML document for further details

Simulátor hotelových procesů

Modelování a simulace slouží především k ilustraci a popisu jednotlivých procesů, jejich struktury a především jejich chování. Pomocí simulačních experimentů je celý model zkoumán za různých podmínek a v různých stavech, které představují různé varianty těchto systémů. Simulace jako metoda se používá nejen pro inovace a pro optimalizaci obchodních procesů, ale osvědčila se také ve vzdělávání a rozvoji lidských zdrojů.The computer simulation of the world are predominantly perceptual stimuli that allow the user to manipulate the elements of the model world and create a sense of realism. Modeling and simulation serves primarily to illustrate and describe individual processes, their structure and, above all, their behavior. Using simulation experiments, the entire model is examined under different conditions and in different states that represent different variants of these systems. Simulation as a method is used not only for innovation and for optimization of business processes, but has proven itself in education and human resource development. Currently, there are some schools and educational institutions around the world providing the opportunity to attend part of the training courses using simulation games