Ana Cuesta - Academia.edu (original) (raw)

Papers by Ana Cuesta

Journal of Medical Genetics, 2005

Clinical Genetics, 2007

Charcot–Marie–Tooth (CMT) disease type 4 (CMT4) is the name given to autosomal recessive forms of... more Charcot–Marie–Tooth (CMT) disease type 4 (CMT4) is the name given to autosomal recessive forms of hereditary motor and sensory neuropathy (HMSN). When we began this study, three genes or loci associated with inherited peripheral neuropathies had already been identified in the European Gypsy population: HMSN‐Lom (MIM 601455), HMSN‐Russe (MIM 605285) and the congenital cataracts facial dysmorphism neuropathy syndrome (MIM 604168). We have carried out genetic analyses in a series of 20 Spanish Gypsy families diagnosed with a demyelinating CMT disease compatible with an autosomal recessive trait. We found the p.R148X mutation in the N‐myc downstream‐regulated gene 1 gene to be responsible for the HMSN‐Lom in four families and also possible linkage to the HMSN‐Russe locus in three others. We have also studied the CMT4C locus because of the clinical similarities and showed that in 10 families, the disease is caused by mutations located on the SH3 domain and tetratricopeptide repeats 2 (SH...

Nature Genetics, 2001

Charcot-Marie-Tooth disease is the most frequently occurring inherited peripheral neuropathy. CMT... more Charcot-Marie-Tooth disease is the most frequently occurring inherited peripheral neuropathy. CMT is classified in two main groups 1,2 : (i) demyelinating CMT, associated with reduced nerve conduction velocities and segmental de-and remyelination and onion bulb formations, and (ii) axonal CMT, characterized by axonal degeneration without demyelinating lesions and the presence of clusters of regeneration. We diagnosed an axonal CMT phenotype associated with hoarse voice and vocal cord paresis in two small families, LF20 and LF249, and one large inbred family, LF38, with Spanish ancestry. The disease segregates as an autosomal recessive trait. The clinical picture is characterized by onset at childhood with weakness and foot and hand wasting, leading to disability at the end of the first decade 3. Sensory-nerve action potentials were decreased or absent in all affected individuals. In families LF20 and LF249, we did not register median, ulnar, and peroneal compound motor action potentials (CMAPs). However, we obtained The gene encoding gangliosideinduced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

Revista de neurologia

We reviewed current knowledge of the molecular and genetic bases of hereditary peripheral neuropa... more We reviewed current knowledge of the molecular and genetic bases of hereditary peripheral neuropathies, with special emphasis on the senso motor neuropathies and their different clinical phenotypes. The peripheral neuropathies show great clinical variability and genetic heterogeneity. To date 12 genes and over 20 genetic loci have been described in relation to Charcot Marie Tooth disease and related neuropathies. The commonest form is the type 1A Charcot Marie Tooth disease (CMT1A) caused by tandem duplication of a monomer of 1.5 megabases (Mb) on chromosome 17q11.2. The CMT 1A duplication is found in 70% of the patients with CMT 1. The deletion of 1.5 Mb is the most prevalent mutation (85%) in hereditary neuropathy with susceptibility to paralysis due to pressure. This monomer includes the PMP22 gene which is affected by a genetic dose effect. The different proteins encoded by the genes described are well expressed in the Schwann cell and in the nerve axon. They have different functions. There are the structural proteins of myelin, transcription factors, cytoskeleton components, molecular motors of the microtubules, proteins involved in growth and cellular differentiation or with presumed enzyme activity. Diagnosis of molecular pathology is important for genetic counselling. The development of new treatment for hereditary neuropathies is based on the generation of animal models for the different genes and on understanding the role of the proteins involved in axon Schwann cell interaction.

Prenatal Diagnosis

Double trisomies are a rare occurrence. We report the first case of a Down and Klinefelter's synd... more Double trisomies are a rare occurrence. We report the first case of a Down and Klinefelter's syndrome (48,XXY,+21) in a fetus that was prenatally diagnosed during the 15th week of pregnancy. Even though the nasal bone was present, and the color-Doppler study of the ductus venosus and the nuchal thickness were normal, the maternal serum test results indicated an increased risk of Down syndrome and consequentially a genetic amniocentesis was performed. A 48,XXY,+21 karyotype was observed and the patient decided to terminate the pregnancy. In this case, we did not find the typical ultrasound (US) signs that would have led us to the chromosomopathy; furthermore, we emphasize the advantages of using biochemical screening which, in our case, were crucial in arriving at the correct diagnosis.

Advances in Cement Research, 2015

Crystal Growth & Design

Sodalites are tridimensional alumino-silicate materials containing cages where loosely bonded ani... more Sodalites are tridimensional alumino-silicate materials containing cages where loosely bonded anions are located. Yeelimite, Ca-4[Al6O12]SO4, is outstanding as an aluminate sodalite with a flexible framework accepting several type of dopants with important structural consequences. Moreover, yeelimite is also important from an applied perspective as it is the most relevant phase in calcium sulfoaluminate cements. The crystal structure of stoichiometric yeelimite has recently been unraveled, but the structure of dopant-containing yeelimite, which is present in cements, is not well studied. Here, we report the pseudocubic crystal structure of doped yeelimite, Ca3.8Na0.2Al5.6Fe0.2Si0.2O12SO4, from high-resolution synchrotron powder diffraction data. The powder pattern is indexed with a cubic cell, and a structural model is reported based on the I (4) over bar (3)m space group. However, this compound displays diffraction peak narrowing on heating. Furthermore, some high-angle split peaks...

Cement and Concrete Research

Belite-rich cements hold promise for reduced energy consumption and CO2 emissions, but their use ... more Belite-rich cements hold promise for reduced energy consumption and CO2 emissions, but their use is hindered by the slow hydration rates of ordinary belites. This drawback may be overcome by activation of belite by doping. Here, the doping mechanism of B and Na/B in belites is reported. For B-doping, three solid solutions have been tested: Ca2-x/2□x/2(SiO4)1-x(BO3)x, Ca2(SiO4)1-x(BO3)xOx/2 and Ca2-xBx(SiO4)1-x(BO4)x. The experimental results support the substitution of silicate groups by tetrahedral borate groups with the concomitant substitution of calcium by boron for charge compensation, Ca2-xBx(SiO4)1-x(BO4)x. Otherwise, the coupled Na/B-doping of belite has also been investigated and Ca2-xNax(SiO4)1-x(BO3)x series is confirmed to exist for a large range of x values. Along this series, α'H-C2S is the main phase (for x ≥ 0.10) and is single phase for x = 0.25. Finally, a new structural description for borax doping in belite has been developed for α'H-Ca1.85Na0.15(SiO4)0.8...

Dalton Transactions

Stoichiometric dicalcium silicate, Ca2SiO4, displays a well-known polymorphism with temperature. ... more Stoichiometric dicalcium silicate, Ca2SiO4, displays a well-known polymorphism with temperature. When this phase is doped by a range of elements, belite, one of the main phases of cements, is generated. Here, we thoroughly study the aluminum doping of dicalcium silicate. This type of study is important for cement characterization and also from a basic point of view. Ca2Si1-2xAl2xO4-x□x (x = 0, 0.010, 0.014, 0.03) has been prepared and studied by X-ray powder diffraction and the Rietveld method. The limiting composition has been established as Ca2Si0.972Al0.028O3.986□0.014. The (27)Al MAS NMR band located close to ∼-70 ppm is ascribed to tetrahedral environments, in agreement with the proposed aliovalent Si/Al atomic substitution mechanism. Thermal analysis measurements under a wet atmosphere indirectly confirm the increase of oxygen vacancies as the amount of incorporated protons increases with the aluminium content. A thorough electrical characterization has been carried out includ...

Journal of Synchrotron Radiation

Belite sulfoaluminate (BSA) cements have been proposed as environmentally friendly building mater... more Belite sulfoaluminate (BSA) cements have been proposed as environmentally friendly building materials, as their production may release up to 35% less CO(2) into the atmosphere when compared with ordinary Portland cement fabrication. However, their formation mechanism has not been studied in detail so far. Here, an in situ high-temperature high-resolution synchrotron X-ray powder diffraction study is reported. Two types of BSA clinkers have been characterized, both containing 50-60 wt% C(2)S and 20-30 wt% C(4)A(3)\underline{\rm S} as main phases. One type is iron-rich and a second type (with different phase assemblage) is aluminium-rich. Furthermore, the C(2)S phase reacts slowly with water, thus activation of this compound is desirable in order to enhance the mechanical strength development of the resulting cements. To do so, iron-rich BSA clinkers have been doped with minor amounts of B(2)O(3) and Na(2)O to promote stabilization of α-forms of C(2)S, which are more reactive with wat...

Cement and Concrete Research, 2014

Ye'elimite is the main phase in calcium sulfoaluminate cements and also a key phase in sulfobelit... more Ye'elimite is the main phase in calcium sulfoaluminate cements and also a key phase in sulfobelite cements. However, its hydration mechanism is not well understood. Here we reported new data on the hydration behavior of ye'elimite using synchrotron and laboratory powder diffraction coupled to the Rietveld methodology. Both internal and external standard methodologies have been used to determine the overall amorphous contents. We have addressed the standard variables: water-to-ye'elimite ratio and additional sulfate sources of different solubilities. Moreover, we report a deep study of the role of the polymorphism of pure ye'elimites. The hydration behavior of orthorhombic stoichiometric and pseudo-cubic solid-solution ye'elimites is discussed. In the absence of additional sulfate sources, stoichiometric-ye'elimite reacts slower than solid-solution-ye'elimite, and AFm-type phases are the main hydrated crystalline phases, as expected. Moreover, solid-solution-ye'elimite produces higher amounts of ettringite than stoichiometric-ye'elimite. However, in the presence of additional sulfates, stoichiometric-ye'elimite reacts faster than solid-solution-ye'elimite.

Nature Genetics, 2001

Charcot-Marie-Tooth disease is the most frequently occurring inherited peripheral neuropathy. CMT... more Charcot-Marie-Tooth disease is the most frequently occurring inherited peripheral neuropathy. CMT is classified in two main groups 1,2 : (i) demyelinating CMT, associated with reduced nerve conduction velocities and segmental de-and remyelination and onion bulb formations, and (ii) axonal CMT, characterized by axonal degeneration without demyelinating lesions and the presence of clusters of regeneration. We diagnosed an axonal CMT phenotype associated with hoarse voice and vocal cord paresis in two small families, LF20 and LF249, and one large inbred family, LF38, with Spanish ancestry. The disease segregates as an autosomal recessive trait. The clinical picture is characterized by onset at childhood with weakness and foot and hand wasting, leading to disability at the end of the first decade 3 . Sensory-nerve action potentials were decreased or absent in all affected individuals. In families LF20 and LF249, we did not register median, ulnar, and peroneal compound motor action potentials (CMAPs). However, we obtained We identified three distinct mutations and six mutant alleles in GDAP1 in three families with axonal Charcot-Marie-Tooth (CMT) neuropathy and vocal cord paresis, which were previously linked to the CMT4A locus on chromosome 8q21.1. These results establish the molecular etiology of CMT4A (MIM 214400) and suggest that it may be associated with both axonal and demyelinating phenotypes. brief communications 22 nature genetics • volume 30 • january 2002

Powder Diffraction, 2014

Building materials are very complex samples of worldwide importance; hence quantitative knowledge... more Building materials are very complex samples of worldwide importance; hence quantitative knowledge of their mineralogical composition is necessary to predict performances. Rietveld quantitative phase analysis (RQPA) allows a direct measurement of the crystalline phase contents of cements. We highlight in this paper the use of laboratory X-ray powder diffraction (LXRPD) employing high-energy radiation, molybdenum (Mo), for attaining the RQPA of cements. Firstly, we evaluate the accuracy of RQPA employing a commercial calcium sulfoaluminate clinker with gypsum. In addition to MoKα 1 and MoKα 1,2 radiations, Cu and synchrotron patterns are also analyzed for the sake of comparison. Secondly, the assessment of the accuracy of RQPA results obtained using different radiations (synchrotron, Mo, and Cu) and geometries (reflection and transmission) is performed by analyzing two well-known commercial samples. As expected, for LXRPD data, accuracy in the RQPA results improves as the irradiated volume increases. Finally, three very complex aged hydrated cements have been analyzed using MoKα 1 -LXRPD and Synchrotron-XRPD. The main overall outcome of this work is the benefit for RQPA of using strictly monochromatic MoKα 1 radiation. Best laboratory results arise from MoKα 1 data as the effective tested volume is much increased but peak overlapping is not swelled.

Energy & Fuels, 1993

Page 1. Energy & Fuels 1993, 7, 1141-1145 1141 Correlation between Arrhenius Kinetic Para... more Page 1. Energy & Fuels 1993, 7, 1141-1145 1141 Correlation between Arrhenius Kinetic Parameters in the Reaction of Different Carbon Materials with Oxygen Ana Cuesta, Amelia Martfnez-Alonso, and Juan M. D. Tasc6n' Instituto ...

Clinical Genetics, 2007

Charcot-Marie-Tooth (CMT) disease type 4 (CMT4) is the name given to autosomal recessive forms of... more Charcot-Marie-Tooth (CMT) disease type 4 (CMT4) is the name given to autosomal recessive forms of hereditary motor and sensory neuropathy (HMSN). When we began this study, three genes or loci associated with inherited peripheral neuropathies had already been identified in the European Gypsy population: HMSN-Lom (MIM 601455), HMSN-Russe (MIM 605285) and the congenital cataracts facial dysmorphism neuropathy syndrome (MIM 604168). We have carried out genetic analyses in a series of 20 Spanish Gypsy families diagnosed with a demyelinating CMT disease compatible with an autosomal recessive trait. We found the p.R148X mutation in the N-myc downstream-regulated gene 1 gene to be responsible for the HMSN-Lom in four families and also possible linkage to the HMSN-Russe locus in three others. We have also studied the CMT4C locus because of the clinical similarities and showed that in 10 families, the disease is caused by mutations located on the SH3 domain and tetratricopeptide repeats 2 (SH3TC2) gene: p.R1109X in 20 out of 21 chromosomes and p.C737_P738delinsX in only one chromosome. Moreover, the SH3TC2 p.R1109X mutation is associated with a conserved haplotype and, therefore, may be a private founder mutation for the Gypsy population. Estimation of the allelic age revealed that the SH3TC2 p.R1109X mutation may have arisen about 225 years ago, probably as the consequence of a bottleneck.

Chemistry of Materials, 2013

Yeelimite, Ca 4 [Al 6 O 12 ]SO 4 , is outstanding as an aluminate sodalite, being the framework o... more Yeelimite, Ca 4 [Al 6 O 12 ]SO 4 , is outstanding as an aluminate sodalite, being the framework of these type of materials flexible and dependent on ion sizes and anion ordering/disordering. On the other hand, yeelimite is also important from an applied perspective as it is the most important phase in calcium sulfoaluminate cements. However, its crystal structure is not well studied. Here, we characterize the room temperature crystal structure of stoichiometric yeelimite through joint Rietveld refinement using neutron and Xray powder diffraction data coupled with chemical soft-constraints. Our structural study shows that yeelimite has a lower symmetry than that of the previously reported tetragonal system, which we establish to likely be the acentric orthorhombic space group Pcc2, with a √2a × √2a × a superstructure based on the cubic sodalite structure. Final unit cell values were a = 13.0356(7) Å, b = 13.0350(7) Å, and c = 9.1677(2) Å. We determine several structures using density functional theory calculations, with the lowest energy structure being Pcc2 in agreement with our experimental result. Yeelimite undergoes a reversible phase transition to a higher-symmetry phase which has been characterized to occur at 470°C by thermodiffractometry. The higher-symmetry phase is likely cubic or pseudocubic possessing an incommensurate superstructure, as suggested by our theoretical calculations which show a phase transition from an orthorhombic to a tetragonal structure. Our theoretical study also predicts a pressure-induced phase transition to a cubic structure of space group I43m. Finally, we show that our reported crystal structure of yeelimite enables better mineralogical phase analysis of commercial calcium sulfoaluminate cements, as shown by R F values for this phase, 6.9% and 4.8% for the previously published orthorhombic structure and for the one reported in this study, respectively.

Cement and Concrete Research, 2012

Journal of Medical Genetics, 2005

Clinical Genetics, 2007

Charcot–Marie–Tooth (CMT) disease type 4 (CMT4) is the name given to autosomal recessive forms of... more Charcot–Marie–Tooth (CMT) disease type 4 (CMT4) is the name given to autosomal recessive forms of hereditary motor and sensory neuropathy (HMSN). When we began this study, three genes or loci associated with inherited peripheral neuropathies had already been identified in the European Gypsy population: HMSN‐Lom (MIM 601455), HMSN‐Russe (MIM 605285) and the congenital cataracts facial dysmorphism neuropathy syndrome (MIM 604168). We have carried out genetic analyses in a series of 20 Spanish Gypsy families diagnosed with a demyelinating CMT disease compatible with an autosomal recessive trait. We found the p.R148X mutation in the N‐myc downstream‐regulated gene 1 gene to be responsible for the HMSN‐Lom in four families and also possible linkage to the HMSN‐Russe locus in three others. We have also studied the CMT4C locus because of the clinical similarities and showed that in 10 families, the disease is caused by mutations located on the SH3 domain and tetratricopeptide repeats 2 (SH...

Nature Genetics, 2001

Charcot-Marie-Tooth disease is the most frequently occurring inherited peripheral neuropathy. CMT... more Charcot-Marie-Tooth disease is the most frequently occurring inherited peripheral neuropathy. CMT is classified in two main groups 1,2 : (i) demyelinating CMT, associated with reduced nerve conduction velocities and segmental de-and remyelination and onion bulb formations, and (ii) axonal CMT, characterized by axonal degeneration without demyelinating lesions and the presence of clusters of regeneration. We diagnosed an axonal CMT phenotype associated with hoarse voice and vocal cord paresis in two small families, LF20 and LF249, and one large inbred family, LF38, with Spanish ancestry. The disease segregates as an autosomal recessive trait. The clinical picture is characterized by onset at childhood with weakness and foot and hand wasting, leading to disability at the end of the first decade 3. Sensory-nerve action potentials were decreased or absent in all affected individuals. In families LF20 and LF249, we did not register median, ulnar, and peroneal compound motor action potentials (CMAPs). However, we obtained The gene encoding gangliosideinduced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

Revista de neurologia

We reviewed current knowledge of the molecular and genetic bases of hereditary peripheral neuropa... more We reviewed current knowledge of the molecular and genetic bases of hereditary peripheral neuropathies, with special emphasis on the senso motor neuropathies and their different clinical phenotypes. The peripheral neuropathies show great clinical variability and genetic heterogeneity. To date 12 genes and over 20 genetic loci have been described in relation to Charcot Marie Tooth disease and related neuropathies. The commonest form is the type 1A Charcot Marie Tooth disease (CMT1A) caused by tandem duplication of a monomer of 1.5 megabases (Mb) on chromosome 17q11.2. The CMT 1A duplication is found in 70% of the patients with CMT 1. The deletion of 1.5 Mb is the most prevalent mutation (85%) in hereditary neuropathy with susceptibility to paralysis due to pressure. This monomer includes the PMP22 gene which is affected by a genetic dose effect. The different proteins encoded by the genes described are well expressed in the Schwann cell and in the nerve axon. They have different functions. There are the structural proteins of myelin, transcription factors, cytoskeleton components, molecular motors of the microtubules, proteins involved in growth and cellular differentiation or with presumed enzyme activity. Diagnosis of molecular pathology is important for genetic counselling. The development of new treatment for hereditary neuropathies is based on the generation of animal models for the different genes and on understanding the role of the proteins involved in axon Schwann cell interaction.

Prenatal Diagnosis

Double trisomies are a rare occurrence. We report the first case of a Down and Klinefelter's synd... more Double trisomies are a rare occurrence. We report the first case of a Down and Klinefelter's syndrome (48,XXY,+21) in a fetus that was prenatally diagnosed during the 15th week of pregnancy. Even though the nasal bone was present, and the color-Doppler study of the ductus venosus and the nuchal thickness were normal, the maternal serum test results indicated an increased risk of Down syndrome and consequentially a genetic amniocentesis was performed. A 48,XXY,+21 karyotype was observed and the patient decided to terminate the pregnancy. In this case, we did not find the typical ultrasound (US) signs that would have led us to the chromosomopathy; furthermore, we emphasize the advantages of using biochemical screening which, in our case, were crucial in arriving at the correct diagnosis.

Advances in Cement Research, 2015

Crystal Growth & Design

Sodalites are tridimensional alumino-silicate materials containing cages where loosely bonded ani... more Sodalites are tridimensional alumino-silicate materials containing cages where loosely bonded anions are located. Yeelimite, Ca-4[Al6O12]SO4, is outstanding as an aluminate sodalite with a flexible framework accepting several type of dopants with important structural consequences. Moreover, yeelimite is also important from an applied perspective as it is the most relevant phase in calcium sulfoaluminate cements. The crystal structure of stoichiometric yeelimite has recently been unraveled, but the structure of dopant-containing yeelimite, which is present in cements, is not well studied. Here, we report the pseudocubic crystal structure of doped yeelimite, Ca3.8Na0.2Al5.6Fe0.2Si0.2O12SO4, from high-resolution synchrotron powder diffraction data. The powder pattern is indexed with a cubic cell, and a structural model is reported based on the I (4) over bar (3)m space group. However, this compound displays diffraction peak narrowing on heating. Furthermore, some high-angle split peaks...

Cement and Concrete Research

Belite-rich cements hold promise for reduced energy consumption and CO2 emissions, but their use ... more Belite-rich cements hold promise for reduced energy consumption and CO2 emissions, but their use is hindered by the slow hydration rates of ordinary belites. This drawback may be overcome by activation of belite by doping. Here, the doping mechanism of B and Na/B in belites is reported. For B-doping, three solid solutions have been tested: Ca2-x/2□x/2(SiO4)1-x(BO3)x, Ca2(SiO4)1-x(BO3)xOx/2 and Ca2-xBx(SiO4)1-x(BO4)x. The experimental results support the substitution of silicate groups by tetrahedral borate groups with the concomitant substitution of calcium by boron for charge compensation, Ca2-xBx(SiO4)1-x(BO4)x. Otherwise, the coupled Na/B-doping of belite has also been investigated and Ca2-xNax(SiO4)1-x(BO3)x series is confirmed to exist for a large range of x values. Along this series, α'H-C2S is the main phase (for x ≥ 0.10) and is single phase for x = 0.25. Finally, a new structural description for borax doping in belite has been developed for α'H-Ca1.85Na0.15(SiO4)0.8...

Dalton Transactions

Stoichiometric dicalcium silicate, Ca2SiO4, displays a well-known polymorphism with temperature. ... more Stoichiometric dicalcium silicate, Ca2SiO4, displays a well-known polymorphism with temperature. When this phase is doped by a range of elements, belite, one of the main phases of cements, is generated. Here, we thoroughly study the aluminum doping of dicalcium silicate. This type of study is important for cement characterization and also from a basic point of view. Ca2Si1-2xAl2xO4-x□x (x = 0, 0.010, 0.014, 0.03) has been prepared and studied by X-ray powder diffraction and the Rietveld method. The limiting composition has been established as Ca2Si0.972Al0.028O3.986□0.014. The (27)Al MAS NMR band located close to ∼-70 ppm is ascribed to tetrahedral environments, in agreement with the proposed aliovalent Si/Al atomic substitution mechanism. Thermal analysis measurements under a wet atmosphere indirectly confirm the increase of oxygen vacancies as the amount of incorporated protons increases with the aluminium content. A thorough electrical characterization has been carried out includ...

Journal of Synchrotron Radiation

Belite sulfoaluminate (BSA) cements have been proposed as environmentally friendly building mater... more Belite sulfoaluminate (BSA) cements have been proposed as environmentally friendly building materials, as their production may release up to 35% less CO(2) into the atmosphere when compared with ordinary Portland cement fabrication. However, their formation mechanism has not been studied in detail so far. Here, an in situ high-temperature high-resolution synchrotron X-ray powder diffraction study is reported. Two types of BSA clinkers have been characterized, both containing 50-60 wt% C(2)S and 20-30 wt% C(4)A(3)\underline{\rm S} as main phases. One type is iron-rich and a second type (with different phase assemblage) is aluminium-rich. Furthermore, the C(2)S phase reacts slowly with water, thus activation of this compound is desirable in order to enhance the mechanical strength development of the resulting cements. To do so, iron-rich BSA clinkers have been doped with minor amounts of B(2)O(3) and Na(2)O to promote stabilization of α-forms of C(2)S, which are more reactive with wat...

Cement and Concrete Research, 2014

Ye'elimite is the main phase in calcium sulfoaluminate cements and also a key phase in sulfobelit... more Ye'elimite is the main phase in calcium sulfoaluminate cements and also a key phase in sulfobelite cements. However, its hydration mechanism is not well understood. Here we reported new data on the hydration behavior of ye'elimite using synchrotron and laboratory powder diffraction coupled to the Rietveld methodology. Both internal and external standard methodologies have been used to determine the overall amorphous contents. We have addressed the standard variables: water-to-ye'elimite ratio and additional sulfate sources of different solubilities. Moreover, we report a deep study of the role of the polymorphism of pure ye'elimites. The hydration behavior of orthorhombic stoichiometric and pseudo-cubic solid-solution ye'elimites is discussed. In the absence of additional sulfate sources, stoichiometric-ye'elimite reacts slower than solid-solution-ye'elimite, and AFm-type phases are the main hydrated crystalline phases, as expected. Moreover, solid-solution-ye'elimite produces higher amounts of ettringite than stoichiometric-ye'elimite. However, in the presence of additional sulfates, stoichiometric-ye'elimite reacts faster than solid-solution-ye'elimite.

Nature Genetics, 2001

Charcot-Marie-Tooth disease is the most frequently occurring inherited peripheral neuropathy. CMT... more Charcot-Marie-Tooth disease is the most frequently occurring inherited peripheral neuropathy. CMT is classified in two main groups 1,2 : (i) demyelinating CMT, associated with reduced nerve conduction velocities and segmental de-and remyelination and onion bulb formations, and (ii) axonal CMT, characterized by axonal degeneration without demyelinating lesions and the presence of clusters of regeneration. We diagnosed an axonal CMT phenotype associated with hoarse voice and vocal cord paresis in two small families, LF20 and LF249, and one large inbred family, LF38, with Spanish ancestry. The disease segregates as an autosomal recessive trait. The clinical picture is characterized by onset at childhood with weakness and foot and hand wasting, leading to disability at the end of the first decade 3 . Sensory-nerve action potentials were decreased or absent in all affected individuals. In families LF20 and LF249, we did not register median, ulnar, and peroneal compound motor action potentials (CMAPs). However, we obtained We identified three distinct mutations and six mutant alleles in GDAP1 in three families with axonal Charcot-Marie-Tooth (CMT) neuropathy and vocal cord paresis, which were previously linked to the CMT4A locus on chromosome 8q21.1. These results establish the molecular etiology of CMT4A (MIM 214400) and suggest that it may be associated with both axonal and demyelinating phenotypes. brief communications 22 nature genetics • volume 30 • january 2002

Powder Diffraction, 2014

Building materials are very complex samples of worldwide importance; hence quantitative knowledge... more Building materials are very complex samples of worldwide importance; hence quantitative knowledge of their mineralogical composition is necessary to predict performances. Rietveld quantitative phase analysis (RQPA) allows a direct measurement of the crystalline phase contents of cements. We highlight in this paper the use of laboratory X-ray powder diffraction (LXRPD) employing high-energy radiation, molybdenum (Mo), for attaining the RQPA of cements. Firstly, we evaluate the accuracy of RQPA employing a commercial calcium sulfoaluminate clinker with gypsum. In addition to MoKα 1 and MoKα 1,2 radiations, Cu and synchrotron patterns are also analyzed for the sake of comparison. Secondly, the assessment of the accuracy of RQPA results obtained using different radiations (synchrotron, Mo, and Cu) and geometries (reflection and transmission) is performed by analyzing two well-known commercial samples. As expected, for LXRPD data, accuracy in the RQPA results improves as the irradiated volume increases. Finally, three very complex aged hydrated cements have been analyzed using MoKα 1 -LXRPD and Synchrotron-XRPD. The main overall outcome of this work is the benefit for RQPA of using strictly monochromatic MoKα 1 radiation. Best laboratory results arise from MoKα 1 data as the effective tested volume is much increased but peak overlapping is not swelled.

Energy & Fuels, 1993

Page 1. Energy & Fuels 1993, 7, 1141-1145 1141 Correlation between Arrhenius Kinetic Para... more Page 1. Energy & Fuels 1993, 7, 1141-1145 1141 Correlation between Arrhenius Kinetic Parameters in the Reaction of Different Carbon Materials with Oxygen Ana Cuesta, Amelia Martfnez-Alonso, and Juan M. D. Tasc6n' Instituto ...

Clinical Genetics, 2007

Charcot-Marie-Tooth (CMT) disease type 4 (CMT4) is the name given to autosomal recessive forms of... more Charcot-Marie-Tooth (CMT) disease type 4 (CMT4) is the name given to autosomal recessive forms of hereditary motor and sensory neuropathy (HMSN). When we began this study, three genes or loci associated with inherited peripheral neuropathies had already been identified in the European Gypsy population: HMSN-Lom (MIM 601455), HMSN-Russe (MIM 605285) and the congenital cataracts facial dysmorphism neuropathy syndrome (MIM 604168). We have carried out genetic analyses in a series of 20 Spanish Gypsy families diagnosed with a demyelinating CMT disease compatible with an autosomal recessive trait. We found the p.R148X mutation in the N-myc downstream-regulated gene 1 gene to be responsible for the HMSN-Lom in four families and also possible linkage to the HMSN-Russe locus in three others. We have also studied the CMT4C locus because of the clinical similarities and showed that in 10 families, the disease is caused by mutations located on the SH3 domain and tetratricopeptide repeats 2 (SH3TC2) gene: p.R1109X in 20 out of 21 chromosomes and p.C737_P738delinsX in only one chromosome. Moreover, the SH3TC2 p.R1109X mutation is associated with a conserved haplotype and, therefore, may be a private founder mutation for the Gypsy population. Estimation of the allelic age revealed that the SH3TC2 p.R1109X mutation may have arisen about 225 years ago, probably as the consequence of a bottleneck.

Chemistry of Materials, 2013

Yeelimite, Ca 4 [Al 6 O 12 ]SO 4 , is outstanding as an aluminate sodalite, being the framework o... more Yeelimite, Ca 4 [Al 6 O 12 ]SO 4 , is outstanding as an aluminate sodalite, being the framework of these type of materials flexible and dependent on ion sizes and anion ordering/disordering. On the other hand, yeelimite is also important from an applied perspective as it is the most important phase in calcium sulfoaluminate cements. However, its crystal structure is not well studied. Here, we characterize the room temperature crystal structure of stoichiometric yeelimite through joint Rietveld refinement using neutron and Xray powder diffraction data coupled with chemical soft-constraints. Our structural study shows that yeelimite has a lower symmetry than that of the previously reported tetragonal system, which we establish to likely be the acentric orthorhombic space group Pcc2, with a √2a × √2a × a superstructure based on the cubic sodalite structure. Final unit cell values were a = 13.0356(7) Å, b = 13.0350(7) Å, and c = 9.1677(2) Å. We determine several structures using density functional theory calculations, with the lowest energy structure being Pcc2 in agreement with our experimental result. Yeelimite undergoes a reversible phase transition to a higher-symmetry phase which has been characterized to occur at 470°C by thermodiffractometry. The higher-symmetry phase is likely cubic or pseudocubic possessing an incommensurate superstructure, as suggested by our theoretical calculations which show a phase transition from an orthorhombic to a tetragonal structure. Our theoretical study also predicts a pressure-induced phase transition to a cubic structure of space group I43m. Finally, we show that our reported crystal structure of yeelimite enables better mineralogical phase analysis of commercial calcium sulfoaluminate cements, as shown by R F values for this phase, 6.9% and 4.8% for the previously published orthorhombic structure and for the one reported in this study, respectively.

Cement and Concrete Research, 2012