Search results for "Croce"
showing 10 items of 170 documents
Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome.
2008
When normal development and growth of the calvarial sutures is disrupted, craniosynostosis (premature calvarial suture fusion) may result. Classical craniosynostosis syndromes are autosomal dominant traits and include Apert, Pfeiffer, Crouzon, Jackson-Weiss, and Saethre-Chotzen syndromes. In these conditions, there is premature fusion of skull bones leading to an abnormal head shape, ocular hypertelorism with proptosis, and midface hypoplasia. It is known that mutations in the fibroblast growth factor receptors 1, 2, and 3 cause craniosynostosis. We report on a child with a clinically diagnosed Pfeiffer syndrome that shows the missense point mutation Q289P in exon 8 of the FGFR2 gene. This …
Rubinstein–Taybi syndrome 2 with cerebellar abnormality and neural tube defect
2019
Rubinstein-Taybi syndrome (RSTS) is a rare dominant disorder with intellectual disability, postnatal growth deficiency, and multiple congenital anomalies. Approximately 50-70% of the patients have a mutation in the CREBBP gene (RSTS1) and 5-10% display an EP300 gene mutation (RSTS2). Craniospinal abnormalities such as microcranium, scoliosis, and lordosis are frequent findings in RSTS1, but malformations of the brain or spinal cord are seen only occasionally. Here, we report on a 3-year-old boy with facial abnormalities of RSTS, broad thumbs and halluces, developmental delay, autistic features, cerebellar underdevelopment, and a neural tube defect. Molecular diagnostic of the CREBBP and EP3…
Numerical modelling of the electrochemical behaviour of 316L stainless steel based upon static and dynamic experimental microcapillary-based techniqu…
2008
Microcapillary-based techniques allow the selection and interrogation of single metallurgical sites and are therefore becoming increasingly popular to investigate the electrochemical behaviour of metallic phases and non-metallic heterogeneities in alloys. This study has been carried out to assess the differences between current measurements made using a 'closed' microcapillary system (the electrochemical microcell technique) with current measurements derived from a flowing 'open' microcapillary droplet cell (the scanning droplet cell). The experimental results were compared with calculations derived from a model system adopting a finite element approach. The corrosion system consists of fou…
Numerical modelling of the galvanic coupling in aluminium alloys: A discussion on the application of local probe techniques
2010
Abstract A discussion is proposed on the determination of the input values and the experimental validation of finite element modelling of the galvanic coupling in aluminium alloys by local probe techniques such as the Scanning Vibrating Electrode Technique (SVET) and the microcapillary electrochemical cell (microcell). Polarization curves obtained by the microcell were introduced as input conditions in the model based on Laplace or Nernst–Planck equation. SVET measurements were performed to determine the coupling current distribution on an Al/Al4%Cu bimetallic system. Agreement was found between simulated and experimental current distributions depending on the input conditions and the solve…
Use of the electrochemical microcell technique and the SVET for monitoring pitting corrosion at MnS inclusions
2004
The purpose of this paper is to report on use of the electrochemical microcell technique and the scanning vibrating electrode technique for monitoring pitting corrosion on the same stainless steel microstructure. First, the electrochemical behaviour of sites containing a single inclusion was investigated in order to the determine both the successive steps occurring during the inclusions activation and some key-parameters such as the onset potential for MnS dissolution and the pitting potential. Then, the local current distribution around a pitting site was monitored at open circuit potential in order to locate anodic and cathodic regions and to obtain informations on the galvanic coupling b…
Performance of sensl C-Series SiPM with high photoelectron resolution at cryogenic temperatures
2016
The C-Series of silicon photomultipliers (SiPM) from SensL provides devices with a fast response and high performance at low cost. The device's ability to detect light at temperatures of liquid nitrogen (77K) and liquid helium (4 K) with high photoelectron resolution was demonstrated. Results include relative photon detection efficiency (PDE), gain, microcell capacitance, and cross-talk probability at different over-voltages, both at room and at cryogenic temperatures. At 77K the SiPM demonstrated significantly improved operating characteristics while at 4K the observed increase in break-down voltage, the reduction of PDE by a factor of 2-3, and the extensively dropped microcell capacitance…
Hybridization of mouse lemurs: different patterns under different ecological conditions
2011
Abstract Background Several mechanistic models aim to explain the diversification of the multitude of endemic species on Madagascar. The island's biogeographic history probably offered numerous opportunities for secondary contact and subsequent hybridization. Existing diversification models do not consider a possible role of these processes. One key question for a better understanding of their potential importance is how they are influenced by different environmental settings. Here, we characterized a contact zone between two species of mouse lemurs, Microcebus griseorufus and M. murinus, in dry spiny bush and mesic gallery forest that border each other sharply without intermediate habitats…
Characterization of a complex rearrangement involving chromosomes 1, 4 and 8 by fish and array-CGH
2012
Complex chromosomal rearrangements (CCRs) are structural aberrations involving more than two chromosomes with at least three breakpoints. CCRs can be divided into familial and de novo. Balanced CCR are extremely rare in humans and are at high risk of producing unbalanced gametes. Individuals with balanced CCR are usually phenotipically normal but report fertility problems, recurrent miscarriages or congenital anomalies in newborn offsprings as consequence of either meiotic failure or imbalanced chromosomes segregation.We describe the case of an unbalanced CCR involving chromosomes 1, 4 and 8 found in a girl with developmental delay, hexadactilia and microcephaly. The rearrangement, apparent…
Broadening the phenotypic spectrum and physiological insights related toEIF2S3variants
2021
Mental deficiency, epilepsy, hypogonadism, microcephaly and obesity (MEHMO) syndrome is a severe X-linked syndrome caused by pathogenic variants in EIF2S3. The gene encodes the γ subunit of the eukaryotic translation initiation factor-2, eIF2, essential for protein translation. A recurrent frameshift variant is described in severely affected patients while missense variants usually cause a moderate phenotype. We identified a novel missense variant (c.433A>G, p.(Met145Val)) in EIF2S3 in a mildly affected patient. Studies on zebrafish confirm the pathogenicity of this novel variant and three previously published missense variants. CRISPR/Cas9 knockout of eif2s3 in zebrafish embryos recapitula…
Primary Microcephaly with Novel Variant of MCPH1 Gene in Twins: Both Manifesting in Childhood at the Same Time with Hashimoto's Thyroiditis
2020
AbstractThis study is a clinical report on twin females affected by primary microcephaly who displayed at molecular analysis of heterozygous novel MCPH1 variant. The twins at the age of 10 years developed, in coincidental time, a diagnosis of autoimmune juvenile thyroiditis. The main clinical features presented by the twins consisted of primary microcephaly with occipitofrontal circumference measuring −2 or −3 standard deviation, facial dysmorphism, typical nonsyndromic microcephaly, and mild intellectual disability. Molecular analysis of the major genes involved in primary microcephaly was performed and the following result was found in the twins: MCPH1; chr8.6357416; c.2180 C > T (rs 1…