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The formation of resistant starch type 5 (RS5), primarily associated with amylose-lipid complexes, is typically attributed to starches with high-amylose content due to their affinity for lipid interactions. Recently, studies have also investigated the potential of amylopectin-rich starches to form amylopectin-lipid complexes (ALCs), expanding RS5 sources. This study explores the capacity of waxy corn starch (WS), which is rich in amylopectin, to develop ALCs with oleic acid (10% w / w ) under different thermal and mechanical conditions. Specifically, WS was treated at temperatures of 80 °C, 85 °C, and boiling, with stirring times of 0 and 45 min. Results demonstrated significant ALC formation, reaching a peak complexation index (CI) of 59% under boiling conditions with 45 min of stirring. Differential scanning calorimetry (DSC) identified a notable endothermic transition at 110 °C, indicating strong ALC interactions. FTIR spectra further evidenced starch-lipid interactions through bands at 2970 cm -1 and 2888 cm -1 . X-ray diffraction (XRD) analysis confirmed the presence of orthorhombic nanocrystals in native WS, with ALC samples exhibiting a V-type diffraction pattern, supporting effective complexation. This study advances knowledge on starch-lipid interactions, suggesting ALCs as a promising RS5 form with potential food industry applications due to its structural resilience and associated health benefits.

In this work, the changes in the composition of the flours and in the morphological, structural, thermal, vibrational, rheological, and functional properties of the isolated lentil starch during the germination process were investigated. The fiber, fat, and ash content of the flours decreased and the protein content increased, while the apparent amylose content of the starch granules remained constant. Using scanning electron microscopy (SEM), the starch granules remained intact during germination, and no enzymatic activity of α- and β-amylases was observed. X-ray diffraction shows that the starch has nanocrystals with hexagonal structure which predominate over the nanocrystals with orthorhombic structure and are classified as C-type starch. The most important result is that these nanocrystals do not play an important role during germination. As the germination time progresses, differential scanning calorimetry (DSC) shows a decrease in the gelatinization temperature (T p ) of the starch, ranging from 70.34 ± 0.25 °C for the native lentil starch to values of 67.16 ± 0.37 °C for the starch on the fourth day of germination (ILS4), this transition being related to the solvation of the nanocrystals. On the other hand, the pasting profiles show no significant changes during germination, indicating that no significant changes in starch content occur during germination. Starch degradation is essential for the production of malt for fermented beverages. This fact makes sprouted lentils not a candidate for the short-term fermentation required in the beverage industry., Competing Interests: Declaration of competing interest The authors have no actual or potential conflict of interest that could inappropriately influence their research. The authors have behaved within the bounds of ethical conduct. This is an original work. However, the work and words of other authors have been cited according to the references. All authors have seen and approved the final version of the paper and consented to its publication., (Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.)

We report the cases of two Spanish pediatric patients with hypotonia, muscle weakness and feeding difficulties at birth. Whole-exome sequencing (WES) uncovered two new homozygous VAMP1 (Vesicle Associated Membrane Protein 1) splicing variants, NM_014231.5:c.129+5 G > A in the boy patient (P1) and c.341-24_341-16delinsAGAAAA in the girl patient (P2). This gene encodes the vesicle-associated membrane protein 1 (VAMP1) that is a component of a protein complex involved in the fusion of synaptic vesicles with the presynaptic membrane. VAMP1 has a highly variable C-terminus generated by alternative splicing that gives rise to three main isoforms (A, B and D), being VAMP1A the only isoform expressed in the nervous system. In order to assess the pathogenicity of these variants, expression experiments of RNA for VAMP1 were carried out. The c.129+5 G > A and c.341-24_341-16delinsAGAAAA variants induced aberrant splicing events resulting in the deletion of exon 2 (r.5_131del; p.Ser2TrpfsTer7) in the three isoforms in the first case, and the retention of the last 14 nucleotides of the 3' of intron 4 (r.340_341ins341-14_341-1; p.Ile114AsnfsTer77) in the VAMP1A isoform in the second case. Pathogenic VAMP1 variants have been associated with autosomal dominant spastic ataxia 1 (SPAX1) and with autosomal recessive presynaptic congenital myasthenic syndrome (CMS). Our patients share the clinical manifestations of CMS patients with two important differences: they do not show the typical electrophysiological pattern that suggests pathology of pre-synaptic neuromuscular junction, and their muscular biopsies present hypertrophic fibers type 1. In conclusion, our data expand both genetic and phenotypic spectrum associated with VAMP1 variants., (© 2024. The Author(s), under exclusive licence to The Japan Society of Human Genetics.)

We report the case of a Spanish pediatric patient with developmental delay, hypotonia, feeding difficulties, visual problems, and hyperkinetic movements. Whole-exome sequencing uncovered a new heterozygous de novo Synaptotagmin 1 (SYT1) missense variant, NM_005639.3:c.930T>A (p.Asp310Glu), in a female proband. This gene encodes the synaptotagmin-1 (SYT1) protein, which is a component of a protein complex involved in the fusion of synaptic vesicles with the presynaptic membrane. Pathogenic SYT1 variants have been associated with Baker-Gordon syndrome (BAGOS), an autosomal dominant neurodevelopmental disorder. Although up to 30 cases have been identified worldwide, to the best of our knowledge, this is the first patient described with mitochondrial respiratory chain deficiencies and rod-cone dysfunction. In conclusion, our data expand both the genetic and phenotypic spectrum associated with SYT1 variants.

We report a 9-year-old Spanish boy with severe psychomotor developmental delay, short stature, microcephaly and abnormalities of the brain morphology, including cerebellar atrophy. Whole-exome sequencing (WES) uncovered two novel de novo variants, a hemizygous variant in CASK (Calcium/Calmodulin Dependent Serine Protein Kinase) and a heterozygous variant in EEF2 (Eukaryotic Translation Elongation Factor 2). CASK gene encodes the peripheral plasma membrane protein CASK that is a scaffold protein located at the synapses in the brain. The c.2506-6 A > G CASK variant induced two alternative splicing events that account for the 80% of the total transcripts, which are likely to be degraded by NMD. Pathogenic variants in CASK have been associated with severe neurological disorders such as mental retardation with or without nystagmus also called FG syndrome 4 (FGS4), and intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia (MICPCH). Heterozygous variants in EEF2, which encodes the elongation factor 2 (eEF2), have been associated to Spinocerebellar ataxia 26 (SCA26) and more recently to a childhood-onset neurodevelopmental disorder with benign external hydrocephalus. The yeast model system used to investigate the functional consequences of the c.34 A > G EEF2 variant supported its pathogenicity by demonstrating it affects translational fidelity. In conclusion, the phenotype associated with the CASK variant is more severe and masks the milder phenotype of EEF2 variant., (© 2023. The Author(s), under exclusive licence to The Japan Society of Human Genetics.)

Introduction: Brain-Computer Interfaces (BCI) can allow control of external devices using motor imagery (MI) decoded from electroencephalography (EEG). Although BCI have a wide range of applications including neurorehabilitation, the low spatial resolution of EEG, coupled to the variability of cortical activations during MI, make control of BCI based on EEG a challenging task., Methods: An assessment of BCI control with different feedback timing strategies was performed. Two different feedback timing strategies were compared, comprised by passive hand movement provided by a robotic hand orthosis. One of the timing strategies, the continuous, involved the partial movement of the robot immediately after the recognition of each time segment in which hand MI was performed. The other feedback, the discrete, was comprised by the entire movement of the robot after the processing of the complete MI period. Eighteen healthy participants performed two sessions of BCI training and testing, one with each feedback., Results: Significantly higher BCI performance (65.4 ± 17.9% with the continuous and 62.1 ± 18.6% with the discrete feedback) and pronounced bilateral alpha and ipsilateral beta cortical activations were observed with the continuous feedback., Discussion: It was hypothesized that these effects, although heterogenous across participants, were caused by the enhancement of attentional and closed-loop somatosensory processes. This is important, since a continuous feedback timing could increase the number of BCI users that can control a MI-based system or enhance cortical activations associated with neuroplasticity, important for neurorehabilitation applications., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Carino-Escobar, Rodríguez-García, Carrillo-Mora, Valdés-Cristerna and Cantillo-Negrete.)

COVID-19 may increase the risk of acute ischemic stroke that can cause a loss of upper limb function, even in patients with low risk factors. However, only individual cases have been reported assessing different degrees of hospitalization outcomes. Therefore, outpatient recovery profiles during rehabilitation interventions are needed to better understand neuroplasticity mechanisms required for upper limb motor recovery. Here, we report the progression of physiological and clinical outcomes during upper limb rehabilitation of a 41-year-old patient, without any stroke risk factors, which presented a stroke on the same day as being diagnosed with COVID-19. The patient, who presented hemiparesis with incomplete motor recovery after conventional treatment, participated in a clinical trial consisting of an experimental brain-computer interface (BCI) therapy focused on upper limb rehabilitation during the chronic stage of stroke. Clinical and physiological features were measured throughout the intervention, including the Fugl-Meyer Assessment for the Upper Extremity (FMA-UE), Action Research Arm Test (ARAT), the Modified Ashworth Scale (MAS), corticospinal excitability using transcranial magnetic stimulation, cortical activity with electroencephalography, and upper limb strength. After the intervention, the patient gained 8 points and 24 points of FMA-UE and ARAT, respectively, along with a reduction of one point of MAS. In addition, grip and pinch strength doubled. Corticospinal excitability of the affected hemisphere increased while it decreased in the unaffected hemisphere. Moreover, cortical activity became more pronounced in the affected hemisphere during movement intention of the paralyzed hand. Recovery was higher compared to that reported in other BCI interventions in stroke and was due to a reengagement of the primary motor cortex of the affected hemisphere during hand motor control. This suggests that patients with stroke related to COVID-19 may benefit from a BCI intervention and highlights the possibility of a significant recovery in these patients, even in the chronic stage of stroke., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Carino-Escobar, Rodríguez-García, Ramirez-Nava, Quinzaños-Fresnedo, Ortega-Robles, Arias-Carrion, Valdés-Cristerna and Cantillo-Negrete.)

We report the clinical and genetic features of a Caucasian girl who presented a severe neurodevelopmental disorder with drug-resistant epilepsy, hypotonia, severe gastro-esophageal reflux and brain magnetic resonance imaging anomalies. WES uncovered a novel variant in homozygosis (g.197092814_197092824delinsC) in HECW2 gene that encodes the E3 ubiquitin-protein ligase HECW2. This protein induces ubiquitination and is implicated in the regulation of several important pathways involved in neurodevelopment and neurogenesis. Furthermore, de novo heterozygous missense variants in this gene have been associated with neurodevelopmental disorder with hypotonia, seizures, and absent language (NDHSAL). The homozygous variant of our patient disrupts the splice donor site of intron 22 and causes the elimination of exon 22 (r.3766_3917+1del) leading to an in-frame deletion of the protein (p.Leu1256_Trp1306del). Functional studies showed a twofold increase of its RNA expression, while the protein expression level was reduced by 60%, suggesting a partial loss-of-function mechanism of pathogenesis. Thus, this is the first patient with NDHSAL caused by an autosomal recessive splicing variant in HECW2., (© 2022 Wiley Periodicals LLC.)

Instant controlled pressure drop (DIC) has been used as a pre-treatment to increase extractable polyphenols (EPP), mainly attributed to matrix structure expansion. This work aimed to evaluate the effect of DIC on non-extractable polyphenols (NEPP), EPP, and dietary fiber on grape pomace. At 0.2 MPa-60 s was observe an increase of total EPP and total anthocyanins. Despite the increment of EPP, was observe the lowest anthocyanins and non-extractable proanthocyanidins content at 0.4 MPa-120 s. This increase was due to a partial transformation of anthocyanins into phenolic acids and the depolymerization of proanthocyanidins. Also was observe partial solubilization of insoluble dietary fiber. Morphologically, the size of the pores generated by DIC was more significant at higher pressures. Thus, DIC modified the morphology and profile of the polyphenols of grape pomace, producing phenolic compounds of simpler structure and improving their antioxidant capacities., (Copyright © 2021. Published by Elsevier Ltd.)

Striated muscle needs to maintain cellular homeostasis in adaptation to increases in physiological and metabolic demands. Failure to do so can result in rhabdomyolysis. The identification of novel genetic conditions associated with rhabdomyolysis helps to shed light on hitherto unrecognized homeostatic mechanisms. Here we report seven individuals in six families from different ethnic backgrounds with biallelic variants in MLIP, which encodes the muscular lamin A/C-interacting protein, MLIP. Patients presented with a consistent phenotype characterized by mild muscle weakness, exercise-induced muscle pain, variable susceptibility to episodes of rhabdomyolysis, and persistent basal elevated serum creatine kinase levels. The biallelic truncating variants were predicted to result in disruption of the nuclear localizing signal of MLIP. Additionally, reduced overall RNA expression levels of the predominant MLIP isoform were observed in patients' skeletal muscle. Collectively, our data increase the understanding of the genetic landscape of rhabdomyolysis to now include MLIP as a novel disease gene in humans and solidifies MLIP's role in normal and diseased skeletal muscle homeostasis., (Published by Oxford University Press on behalf of the Guarantors of Brain 2021.)

This work proposed a controlled method to modify the physicochemical properties of corn starch through heating and cooling extrusion (HCE) cycles. It was used native corn starch adjusted to 60% moisture. It was then subjected to 5 HCE cycles at 100 and 125 °C, at 10 rpm. Water absorption index (WAI), water solubility index (WSI), resistant starch (RS), thermal properties, viscosity, FTIR, and X-ray were evaluated. For WAI and WSI, a gradual increase was observed on each HCE cycle. Thermal properties shown that enthalpy decrease with each HCE cycles due to more gelatinization. Viscosity properties shown a thermally stable starch conditions being directly proportional to HCE cycles. The RS increased for each 5 HCE. XRD revealed that HCE cycle changed the starch structure from an orthorhombic structure to V-type crystalline structure. Finally, it was concluded that HCE cycles is a method to produce corn starch with controlled physicochemical properties., (Copyright © 2021 Elsevier B.V. All rights reserved.)

Sorghum has been used to expand snacks such as pop sorghum. However, it is still unknown how the structural changes during the popping affect its rheological and functional properties. This study evaluated the structural changes of popped sorghum starch (PS) and their impact on rheological behavior. Moisture sorghum was adjusted to 11, 15, and 20% before popped. Morphology, X-ray pattern (XRP), infrared spectra (IR), thermal properties, and rheological behavior before and after popping were evaluated. Micrographs showed a honeycomb-like structure in PS. XRP showed partial damage to the orthorhombic crystals of the sorghum starch after PS, while the growth of crystalline lamellae was also generated (13.08 and 20.01°). IR showed structural damage as the signal at 1045 cm -1 disappeared in PS. The IM increased to gelatinization of the starch. The rheological behavior of PS displayed better thermal stability, with the lowest breakdown (25 ± 3.5 cP), setback (253 ± 11.3 cP), and final (1337 ± 5.7 cP) viscosity. The consistency coefficient k and flow behavior index n increase, meaning a loss of the pseudoplastic character. Viscoelastic properties increased in PS, suggesting the formation of cross-links and a stable matrix. Correlation analysis showed a strong relationship between structural changes and the rheological behavior of PS., (Copyright © 2021 Elsevier B.V. All rights reserved.)

We report the case of a 16-year-old Spanish boy with cerebellar and spinal muscular atrophy, spasticity, psychomotor retardation, nystagmus, ophthalmoparesis, epilepsy, and mitochondrial respiratory chain (MRC) deficiency. Whole exome sequencing (WES) uncovered three variants (two of them novel) in a compound heterozygous in EXOSC8 gene (NM_181503.3:c.[390+1delG];[628C>T;815G>C]) that encodes the exosome complex component RRP43 protein (EXOSC8). In order to assess the pathogenicity of these variants, expression experiments of RNA and protein for EXOSC8 were carried out. The c.[390+1delG] variant produces the elimination of exon 7 (r.[345_390del]; p.[Ser116LysfsTer27]) and a decrease of the RNA expression in relation to the other allele (p.[Pro210Ser;Ser272Thr]). Furthermore, total mRNA expression is reduced by 30% and the protein level by 65%. EXOSC8 is an essential protein of the exosome core, a ubiquitously expressed complex responsible for RNA processing and degradation. Recessive mutations in EXOSC8 cause pontocerebellar hypoplasia type 1C (PCH1C), and currently, only two homozygous variants in this gene have been described. However, unlike PCH1C-affected individuals with EXOSC8 variants, our patient presents a normal supratentorial cerebral tissue (neither corpus callosum hypoplasia nor hypomyelination) with a less severe phenotype and longer survival. In conclusion, our data expand both genetic and phenotypic spectrum associated with EXOSC8 variants., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2021 Elsevier B.V. All rights reserved.)

The popping process has been widely used as a technique for obtaining snacks. This study evaluated the effect of the popping process on the structural and thermal properties of sorghum. Seven varieties of sorghum were used. Raw sorghum grains were adjusted to 11% moisture and popped at 210 °C for 90 s with hot air. Microstructure, thermal and viscosity properties, and X-Ray and infrared spectrum were measured in raw and popped sorghum. The popping process produced an ordered honeycomb-like structure in the sorghum. The viscosity profile showed an increase in the thermal stability of popped sorghum. DSC measurements showed a starch gelatinization and a second transition about to 145 °C. XRD diffractograms display a reduction in the amplitude of the crystalline orthorhombic structure peaks. Finally, infrared indicated a change in the short-range structure and protein denaturation due to the popping process., (Copyright © 2021 Elsevier Ltd. All rights reserved.)

We report the clinical, biochemical and genetic findings from a Spanish boy of Caucasian origin who presented with fever-dependent RALF (recurrent acute liver failure) and osteogenesis imperfecta (OI). Whole-exome sequencing (WES) uncovered two compound heterozygous variants in NBAS (c.[1265 T > C];[1549C > T]:p.[(Leu422Pro)];[(Arg517Cys)]), and a heterozygous variant in P4HB (c.[194A > G];[194=]:p.[(Lys65Arg)];[(Lys65=)]) that was transmitted from the clinically unaffected mother who was mosaic carrier of the variant. Variants in NBAS protein have been associated with ILFS2 (infantile liver failure syndrome-2), SOPH syndrome (short stature, optic nerve atrophy, and Pelger-Huët anomaly syndrome), and multisystem diseases. Several patients showed clinical manifestations affecting the skeletal system, such as osteoporosis, pathologic fractures and OI. Experiments in the patient's fibroblasts demonstrated that mutated NBAS protein is overexpressed and thermally unstable, and reduces the expression of MGP, a regulator of bone homeostasis. Variant in PDI (protein encoded by P4HB) has been associated with CLCRP1 (Cole-Carpenter syndrome-1), a type of severe OI. An increase of COL1A2 protein retention was observed in the patient's fibroblasts. In order to study if the variant in P4HB was involved in the alteration in collagen trafficking, overexpression experiments of PDI were carried out. These experiments showed that overexpression of mutated PDI protein produces an increase in COL1A2 retention. In conclusion, these results corroborate that the variants in NBAS are responsible for the liver phenotype, and demonstrate that the variant in P4HB is involved in the bone phenotype, probably in synergy with NBAS variants., Competing Interests: Declaration of Competing Interest The authors declare no conflict of interest., (Copyright © 2021 Elsevier Inc. All rights reserved.)

Changes in bone mineral content of calcium (Ca), phosphorous (P), magnesium and potassium for male and female Wistar rats during their development from 3 weeks old to adulthood (27 weeks old) were measured. Bone mineral content was related to areal bone mineral density (BMD) which was measured in vivo at the femoral neck using a calibrated X-ray transmission system to obtain basal curves as a function of the age of the specimen. Diagnostic curves were built to determine low BMD (osteopaenia) and osteoporosis in female rats fed a Ca-depleted diet (50%) based on the obtained data and the criteria established by the World Health Organization. Bone mineral content is directly related to sex and age, but P did not change throughout the experimental period. P content did not exhibit significant changes with growing, while Ca was greatest in male rats, producing significant differences in the Ca:P ratio. Male rats reach the Ca:P ratio peak before female rats. However, areal BMD does not follow the same trend. On the other hand, osteoporosis produced a 45% decrease in this parameter for young and mature adults. These results make Z -score values available to diagnose bone-mass losses and hence the possibility of improving the conditions of non-contact measurement of BMD in vivo. This technique can be used for future experiments with Wistar rats.

This study evaluates the effect of three calcium levels in the diet (normal, moderate, and severe calcium depletion) on bone metabolism of male Wistar rats during their growth period. Bone mineral density (BMD) and femur length were determined in vivo during the growth stage using a single X-ray transmission system. The apparent calcium absorption was calculated in the rat adolescent and adulthood stages. At the end of the experiment, calcium concentrations in serum and urine were analyzed. The bones were evaluated postmortem to corroborate in vivo analyses. Microstructural properties of cortical and trabecular tissues of femurs bones were assessed using scanning electron microscopy. Bone mineral contents (Mg, Ca, P, and K) were quantified by inductively coupled plasma. Severe calcium depletion in the diets in the development stage affects the bone quality parameters such as bone mineral density and mineral content. Moreover, it was found thinner cortical and trabecular bone areas. Additionally, it was found that severe calcium depletion increased the apparent absorption of calcium as a defense mechanism, but with the decrease of the BMD peak, and the thickness of cortical bone as well as trabecular bone porosity. The severe calcium depletion increased the efficiency of apparent absorption calcium as a defense mechanism, but, even so, decreases the BMD peak as well as the thickness of cortical bone and trabecular bone porosity.

We report the case of a Caucasian Spanish origin female who showed severe psychomotor developmental delay, hypotonia, strabismus, epilepsy, short stature, and poor verbal language development. Brain magnetic resonance imaging scans showed thickened corpus callosum, cortical malformations, and dilated and abnormal configuration of the lateral ventricles without hydrocephalus. Whole-exome sequence uncovered a de novo variant in the microtubule associated serine/threonine kinase 1 gene (MAST1; NM_014975.3:c.1565G>A:p.(Gly522Glu)) that encodes for the MAST1. Only 12 patients have been identified worldwide with 10 different variants in this gene: six patients with mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations; two patients with microcephaly and cerebellar hypoplasia; two patients with autism, one patient with diplegia, and one patient with microcephaly and dysmorphism. Our patient shows a new phenotypic subtype defined by mega-corpus-callosum syndrome with cortical malformations without cerebellar hypoplasia. In conclusion, our data expand the phenotypic spectrum associated to MAST1 gene variants., (© 2020 Wiley Periodicals, Inc.)

This work determines the effect nopal consumption at different maturity stages (60, 200, 400, and 600 g) as the only calcium source in bone metabolism. The apparent mineral absorption, the biomarkers of bone metabolism, the bone mineral density at different femoral regions, and crystal properties of the bone were evaluated during the growth stage. The Ca absorption was increased with the rat age in most of the experimental groups, while Mg supplementation decreased intestinal absorption probably due to a saturation process. Intestinal Ca and Mg absorption showed an opposite trend; this result suggests that both ions can compete for vitamin D absorption sites. The percentage of absorption of K was lower in the groups fed with Nopal; nevertheless, due to supplementation, the net absorption was higher than the control group. In all groups, osteocalcin levels decreased with the rat age. Nopal consumption increased osteocalcin levels during the adolescence stage in comparison to the control group. Amino N-terminal propeptide of type I procollagen levels increased in puberty and adolescence in all groups compared to the control group. Bone mineral density in different femoral regions was lower in the groups fed with nopal at early maturity stages (N-60 and N-200) than the groups fed with nopal at late maturity stages (N-400 and N-600). The crystal size of hydroxyapatite exhibited changes for all the groups, indicating the inclusion of mono and divalent ions in calcium replacement. On this basis, the nopal at late maturity stage contributed to bone formation.

We report the case of a Caucasian Spanish boy, who showed profound neonatal hypotonia, feeding difficulties, apnea, severe developmental delay, epilepsy, bilateral convergent strabismus, poor verbal language development and a large brainstem. Whole-exome sequence uncovered a novel de novo mutation in the purine-rich element binding protein A gene ( PURA ; NM_005859.4:c.72del:p.(-Gly25AlafsTer53)) that encodes the transcriptional activator protein Pur-alpha (PURA). Mutations in this gene have been identified in patients with PURA syndrome, a rare disorder characterized by an early hypotonia, developmental delay, severe intellectual disability with or without epilepsy, and disability in expressive language development. Although, up to 75 cases have been identified worldwide, to the best of our knowledge, this is the first patient described with a brainstem larger than normal. In conclusion, our data expand both geneticand phenotypic spectrum associated with PURA gene mutations.

This work studies the physicochemical properties of quinoa flour and isolated starch. Starch in the seed forms clusters rich in amylopectin that are immersed in a matrix with spherical and polygonal shapes in the submicron scale. The isolated quinoa starch is rich in Sulphur and Magnesium. The quinoa flour has a higher content of protein, carbohydrates and lipids than isolated starch. Water absorption and water solubilized indexes of starch exhibited high values that could had originated by the extraction method. The broad peaks found for the X-ray patterns of isolated quinoa starch indicate that amylose and amylopectin are composed by nanocrystals, according to the PDF-4+2019 software. The viscosity of isolated starch had a higher value than flour; therefore, the quinoa starch could be used as a thickener in different formulations with the advantage of keeping a significant presence of minerals which are important to the human health., (Copyright © 2019 Elsevier Ltd. All rights reserved.)

We report the clinical, biochemical and genetic findings from a Spanish girl of Caucasian origin who presented with macrocephaly, dysmorphic facial features, developmental delay, hypotonia, combined oxidative phosphorylation (OxPhos) deficiency, epilepsy and anti-phospholipid antibodies (aPL). Whole-exome sequencing (WES) uncovered a heterozygous variant in the MTOR gene (NM_004958.3: c.7235A>T: p.(Asp2412Val)) that encodes for the Serine/threonine-protein kinase mTOR. The substrates phosphorylation experiments demonstrated that this variant exerts its effect by gain-of-function (GOF) and autosomal dominant mechanism. GOF variants in this protein have been associated with Smith-Kingsmore syndrome (SKS), a rare autosomal dominant disorder characterized by intellectual disability, macrocephaly, seizure, developmental delay and dysmorphic facial features. Furthermore, the mTOR pathway has been demonstrated previously to be involved in many types of endothelium injuries including the antiphospholipid syndrome (APS), a systemic autoimmune disease characterized by the production of aPL with recurrent vascular thrombosis. Therefore, our patient is the first one with an mTOR variant and diagnosed with SKS and APS. In conclusion, our data expand both the genetic and phenotypic spectrum associated with MTOR gene variants.

This work focused in the study of the changes on the physicochemical properties of isolated jícama starch (IJS), and IJS added with 0.15, 0.20, 0.30% Ca(OH) 2 w/w. including: the structural, morphological, chemical, vibrational, pasting, rheological, and thermal characteristics. K, Ca, Na, and P were found in IJS. X-ray patterns, which showed that nanocrystals form the IJS according to the PDF-4 simulation. The functional properties were affected by the Ca inclusion, which originated electrostatic interactions. The gelatinization temperatures shifted to high values and exhibited an unfolding. The calculation of the IR absorption coefficient (β) of the gelatinized samples as a function of the Ca 2+ for the C-OH showed that the Van der Waals interaction causes the changes in the rheological-mechanical properties. The SEM images demonstrated that starch without alkali exhibited a porous network structure, while the starch with lime exhibited flakes and porous network. The gels of Jicama starch with Ca(OH) 2 showed a viscoelastic behavior (G' > G″) with a reduction of their elastic module., (Copyright © 2019 Elsevier Ltd. All rights reserved.)

Starch is a biopolymer widely used in the industry; however, rarely used in its native form, making necessary its modification. This work studied the effect of the inclusion of potassium and magnesium ions on the physicochemical properties of plantain starch. Ionic solutions were prepared at five concentrations between 0.0 and 0.3 M. The gelatinization, thermal degradation, viscosity, swelling power, morphological and structural changes were studied. Results showed that ion addition increased the swelling and solubility index. Both ions affected the gelatinization temperature; shift in characteristic temperatures was observed. The more significant change in the viscosity profile was showed in the final region; both ions permitted the re-ordering of the polymeric chains, but magnesium showed a greater trend towards viscosity recovery. In the thermogravimetric analysis, a lower degradation temperature was observed for starch added with ions. Structural analysis showed that for higher concentrations of potassium the addition was not carried out and crystallographic phase potassium chloride appears in the diffractogram. All the results showed that the ions inclusion produced changes in the physicochemical properties on starch, but magnesium had a greater effect on its polymeric matrix according to infrared spectroscopy, which could be due to its high electronegativity and low molecular weight., (Copyright © 2018 Elsevier B.V. All rights reserved.)

We report the clinical and genetic findings in a 15-year-old Spanish boy presenting prenatal and postnatal growth retardation, reduced subcutaneous adipose tissue, premature skin wrinkling, sparse hair, short distal phalanges with small nails, umbilical hernia, wide anterior fontanel, and normal cognitive and motor development. Exome sequencing uncovered a heterozygous mutation in SLC25A24 (NM_013386: c.650G>A: p.R217H) that encodes for the calcium-binding mitochondrial carrier protein SCaMC-1. This gain-of-function variant has been previously associated with Fontaine syndrome and Gorlin-Chaudhry-Moss syndrome, two entities that show overlapping features, and have been recently subsumed under the name Fontaine progeroid syndrome (FPS; MIM: 612289) in OMIM. Here, we describe the first male patient with genetically confirmed FPS who survives at least until adolescence., (© 2018 Wiley Periodicals, Inc.)

Background: This study aimed to concentrate dietary fiber (DF) from peach (Prunus persica) juice by-product (PJBP), to improve its functional properties, and its polyphenols bioavailability. The dietary fiber concentrates (DFCs) were obtained from PJBP using water/ethanol treatments (100:0, 20:80, 50:50, 80:20, and 0:100, v/v) at 1:5 ratio (wet weight/solvent, w/v) for 5 and 20 min at 21 °C., Results: All treatments concentrated condensed tannins, total and insoluble DF, with the highest content found with 100% H 2 O treatment. The major polyphenols of DFC were 4-O-caffeoylquinic, chlorogenic, and 1,5-di-O-caffeoylquinic acids. Water and oil retention capacity and maximum glucose diffusion rate were improved mainly with 100% H 2 O treatment. Healthy rats were fed with a standard diet supplemented with 8% of PJBP, DFC obtained with 100% H 2 O for 5 min, or DFC obtained with 20% EtOH for 5 min. Gastrointestinal digesta weight and viscosity were increased in animals supplemented with 100% H 2 O DFC. Moreover, the urinary excretion of polyphenol metabolites, mainly glucuronide and sulfate conjugates, was increased with this treatment, indicating a greater bioavailability of PJBP polyphenols, which was associated with an increased dietary fiber porosity., Conclusion: Water treatment could be used to potentiate PJBP functional properties and polyphenols bioavailability. © 2017 Society of Chemical Industry., (© 2017 Society of Chemical Industry.)

We report the clinical and biochemical findings from a patient who presented with Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), an autosomal-dominant disorder characterized by optic atrophy, developmental delay and intellectual disability. In addition, the patient also displays hypotonia, stroke-like episodes, and complex IV deficiency of the mitochondrial respiratory chain. Whole-exome sequencing (WES) uncovered a novel heterozygous mutation in the NR2F1 gene (NM_005654:c.286A>G:p.Lys96Glu) that encodes for the COUP transcription factor 1 protein (COUP-TF1). Loss-of-function mutations in this protein have been associated with BBSOAS, and a luciferase reporter assay showed that this variant, in the zinc-finger DNA-binding domain (DBD) of COUP-TF1 protein, impairs its transcriptional activity. The additional features of this patient are more related with mitochondrial diseases that with BBSOAS, indicating a mitochondrial involvement. Finally, our data expand both the genetic and phenotypic spectrum associated with NR2F1 gene mutations.

Whole-exome sequencing was used to identify the disease gene(s) in a Spanish girl with failure to thrive, muscle weakness, mild facial weakness, elevated creatine kinase, deficiency of mitochondrial complex III and depletion of mtDNA. With whole-exome sequencing data, it was possible to get the whole mtDNA sequencing and discard any pathogenic variant in this genome. The analysis of whole exome uncovered a homozygous pathogenic mutation in thymidine kinase 2 gene ( TK2; NM&#95;004614.4:c.323 C>T, p.T108M). TK2 mutations have been identified mainly in patients with the myopathic form of mtDNA depletion syndromes. This patient presents an atypical TK2-related myopathic form of mtDNA depletion syndromes, because despite having a very low content of mtDNA (<20%), she presents a slower and less severe evolution of the disease. In conclusion, our data confirm the role of TK2 gene in mtDNA depletion syndromes and expanded the phenotypic spectrum.

We have developed a new functional complementation approach to clone modifier genes which overexpression is able to suppress the biochemical defects caused by mtDNA mutations (suppressor genes). This strategy consists in transferring human genes into respiratory chain-deficient fibroblasts, followed by a metabolic selection in a highly selective medium. We used a normalized expression cDNA library in an episomal vector (pREP4) to transfect the fibroblasts, and a medium with glutamine and devoid of any carbohydrate source to select metabolically. Growing the patient's fibroblasts in this selective medium, the deficient cells rapidly disappear unless they are rescued by the cDNA of a suppressor gene. The use of an episomal vector allows us to carry out several rounds of transfection/selection (cyclical phenotypic rescue) to enrich the rescue with true clones of suppressor genes. Using fibroblasts from a patient with epileptic encephalopathy with the m.3946G>A (p.E214K) mutation in the MT-ND1 gene, several candidate genes were identified and one of them was characterized functionally. Thus, overexpression of MRPS18C gene (that encode for bS18m protein) suppressed the molecular defects produced by this mtDNA mutation, recovering the complex I activity and reducing the ROS produced by this complex to normal levels. We suggest that modulation of bS18m expression may be an effective therapeutic strategy for the patients with this mutation.

This research studied the influence of the germ components on the physicochemical properties of cooked corn and nixtamalized corn flours as a function of the calcium hydroxide content (from 0 to 2.1 w/w) and steeping time (between 0 and 9h). A linear relationship was found between calcium content in germ and steeping time used during nixtamalization process. X-ray diffraction analysis showed that calcium carbonate is formed into the germ structure to 2.1 w/w of calcium hydroxide and 9h steeping time. The presence of the germ improves the development of peak viscosity in flours, and it is related to the increases in calcium concentration in germ and the formation of amylose-lipid complexes. No significant changes were observed in palmitic, stearic, oleic and linoleic acids of corn oil. The levels of further corn oil deterioration were 2.1 w/w of calcium hydroxide concentration and 9h of steeping time., (Copyright © 2016 Elsevier Ltd. All rights reserved.)

We report clinical and biochemical finding from three unrelated patients presenting ONCE (Optic Neuropathy, Cardiomyopathy and Encephalopathy with lactic acidosis and combined oxidative phosphorylation deficiency) syndrome. Whole-exome sequencing (WES) of the three patients and the healthy sister of one of them was used to identify the carry gene. Clinical and biochemical findings were used to filter variants, and molecular, in silico and genetic studies were performed to characterize the candidate variants. Mitochondrial DNA (mtDNA) defects involving mutations, deletions or depletion were discarded, whereas WES uncovered a double homozygous mutation in the MTO1 gene (NM&#95;001123226:c.1510C>T, p.R504C, and c.1669G>A, p.V557M) in two of the patients and the homozygous mutation p.R504C in the other. Therefore, our data confirm p.R504C as pathogenic mutation responsible of ONCE syndrome, and p.V557M as a rare polymorphic variant., (© 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

This work is focused on the understanding of the apparent viscosity profile of corn starch, in terms of the physicochemical and morphological changes that take place during the thermal profile of starch-water suspension to its respective gel formation. A mathematical model was used to obtain the experimental operating conditions that satisfy the Froude number. Freeze drying samples are studied in different stages along the pasting profile. Changes in the structural properties of the samples are studied using X-ray diffraction, and the morphological changes are followed using scanning electron microscopy, differential scanning calorimetry was used to analyze the thermal changes in starch. The changes in the pasting profile are associated with structural, thermal,and morphological changes of the system and the analysis of the physicochemical transformation that occur during the pasting profile are explained. The finding in this work does not show evidence of gel retrogradation at the end of the cooling process., (Copyright © 2016 Elsevier B.V. All rights reserved.)

We report the clinical and biochemical findings from two unrelated patients who presented with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy. Whole exome sequencing (WES) uncovered a homozygous mutation in the ATP8A2 gene (NM&#95;016529:c.1287G > T, p.K429N) in one patient and compound heterozygous mutations (c.1630G > C, p.A544P and c.1873C > T, p.R625W) in the other. Only one haploinsufficiency case and a family with a homozygous mutation in ATP8A2 gene (c.1128C > G, p.I376M) have been described so far, with phenotypes that differed slightly from the patients described herein. In conclusion, our data expand both the genetic and phenotypic spectrum associated with ATP8A2 gene mutations.

This work focused on the study of the behaviors of the apparent viscosity profiles of isolated corn starches rich in amylose and amylopectin, through the physicochemical and morphological changes that take place during the thermal profile and the gel formation. Frozen dry samples were studied at different stages along the pasting profile. Changes in the structural properties of the samples were studied using X-ray diffraction, and the morphological changes were followed using scanning electron microscopy, differential scanning calorimetry was used to analyze the thermal changes. The changes in the pasting profile (curve of apparent viscosity) were associated with structural, thermal, and morphological changes of the starch-water suspension. From the results obtained, a new interpretation of the parameters measured with the pasting profile is introduced. In this work does not show evidence of retrogradation at the end of the cooling process for starch rich in amylopectin and that starch rich in amylose does not develop viscosity., (Copyright © 2016 Elsevier B.V. All rights reserved.)

We report the clinical and genetic findings in a Spanish boy who presented MEGDEL syndrome, a very rare inborn error of metabolism. Whole-exome sequencing uncovered a new homozygous mutation in the serine active site containing 1 (SERAC1) gene, which is essential for both mitochondrial function and intracellular cholesterol trafficking. Functional studies in patient fibroblasts showed that p.D224G mutation affects the intracellular cholesterol trafficking. Only three missense mutations in this gene have been described before, being p.D224G the first missense mutation outside of the SERAC1 serine-lipase domain. Therefore, we conclude that the defect in cholesterol trafficking is not limited to alterations in this specific part of the protein.

This research studies the crystalline compounds present in nopal (Opuntia ficus-indica) cladodes. The identification of the crystalline structures was performed using X-ray diffraction, scanning electron microscopy, mass spectrometry, and Fourier transform infrared spectroscopy. The crystalline structures identified were calcium carbonate (calcite) [CaCO3], calcium-magnesium bicarbonate [CaMg(CO3)2], magnesium oxide [MgO], calcium oxalate monohydrate [Ca(C2O4)•(H2O)], potassium peroxydiphosphate [K4P2O8] and potassium chloride [KCl]. The SEM images indicate that calcite crystals grow to dipyramidal, octahedral-like, prismatic, and flower-like structures; meanwhile, calcium-magnesium bicarbonate structures show rhombohedral exfoliation and calcium oxalate monohydrate is present in a drusenoid morphology. These calcium carbonate compounds have a great importance for humans because their bioavailability. This is the first report about the identification and structural analysis of calcium carbonate and calcium-magnesium bicarbonate in nopal cladodes, as well as the presence of magnesium oxide, potassium peroxydiphosphate and potassium chloride in these plants. The significance of the study of the inorganic components of these cactus plants is related with the increasing interest in the potential use of Opuntia as a raw material of products for the food, pharmaceutical, and cosmetic industries.

Introduction: During menopause there is weight gain and a decrease in bone mineral density (BMD) that has been related with periodontal disease (incidence between 5-30%); therefore, it is essential to assess the risk factors related with anthropometry and BMD., Objective: To assess the relationship between body mass index (BMI), skeletal composition, waist circumference, tooth loss, fracture risk, BMD of the spine, hip, femur, and mandible in pre and post-menopausal women with periodontitis., Subjects and Methodology: We studied 60 women aged 35-60 years, divided in 4 groups (n = 15):, Control Group: premenopausal women without periodontitis; Experimental group 1: premenopausal women with periodontitis; Experimental group 2: postmenopausal women without periodontitis; and Experimental group 3: postmenopausal women with periodontitis. Periodontitis was diagnosed by means of a computerized digital periodontal probe; BMD of the mandible by means of digital radiograph with X ray conversion, the number of teeth by digital panoramic radiograph. We measured: BMI, skeletal composition, waist circumference, risk fracture by the FRAX questionnaire., Results: The variables with a negative correlation with periodontitis were: weight, BMI, and BMD of the mandible with risk fracture (p < 0.05). The group that showed differences (ANOVA) was EG3: with older age, lower height, lower BMD of the mandible, and lower number of teeth (P < 0.05)., Conclusion: Periodontitis in the presence of menopause is related with older age, lower height, low BMD of the mandible, and lower mayor number of teeth. Higher fracture risk is associated with low weight and BMI and low BMD of the mandible., (Copyright AULA MEDICA EDICIONES 2014. Published by AULA MEDICA. All rights reserved.)

This work presents the physicochemical and pasting characterization of isolated mafafa starch and mafafa flour (Xanthosoma robustum). According to SEM images of mafafa starches in the tuber, these starches form Lego-like shaped structures with diameters between 8 and 35 μm conformed by several starch granules of wedge shape that range from 2 to 7 μm. The isolated mafafa starch is characterized by its low contents of protein, fat, and ash. The starch content in isolated starch was found to be 88.58% while the amylose content obtained was 35.43%. X-ray diffraction studies confirm that isolated starch is composed mainly by amylopectin. These results were confirmed by differential scanning calorimetry and thermo gravimetric analysis. This is the first report of the molecular parameters for mafafa starch: molar mass that ranged between 2×10(8) and 4×10(8) g/mol, size (Rg) value between 279 and 295 nm, and molecular density value between 9.2 and 9.7 g/(mol nm(3)). This study indicates that mafafa starch shows long chains of amylopectin this fact contributes to higher viscosity development and higher gel stability. The obtained gel phase is transparent in the UV-vis region. The viscosity, gel stability and optical properties suggest that there is potential for mafafa starch applications in the food industry., (Copyright © 2014 Elsevier B.V. All rights reserved.)

Background: The intake of dehydrated nopal (DN) at a high stage of maturity along with high calcium content could improve bone mineral density (BMD) and calciuria and thus prevent osteoporosis., Objective: To evaluate the effect of calcium intake from a vegetable source (DN) on BMD and calciuria covering a 2-year period in menopausal and non-menopausal women with low bone mass (LBM)., Methods: The study was quasi-experimental, blinded, and randomized, and included 131 Mexican women aged 35-55. Urinary calcium/creatinine index (CCI) was determined; BMD was analyzed on lumbar spine and total hip regions. Four groups were studied: Control group (CG), women with normocalciuria and a minimum dose of DN; experimental group 1 (EG1), women with hypercalciuria and a minimum dose of DN; experimental group 2 (EG2), women with hypercalciuria, and a maximum dose of DN; and normal group (NG) for reference in BMD., Results: After the first semester of treatment, calciuria levels in women from both experimental groups returned to normal, remaining constant for the rest of the treatment. The percentage difference in BMD increased in the total hip region in the CG (pre 4.5% and post 2.1%) and EG2 (pre 1.8% and post 2.5%) groups significantly in comparison to NG and EG1, which exhibited a significant decrease in their BMD. BMD increased only for the lumbar region in the EG2 group (premenopausal)., Conclusion: The use of a vegetable calcium source such as nopal improves BMD in women with LBM in the total hip and lumbar spine regions principally in the premenopausal women, maintaining constant and normal calciuria levels.

It is essential to evaluate osteoporosis risk factors, mainly the modifiable, like the lifestyle, in Mexican women in order to prevent it, since it is a serious public health problem. We studied 805 women (35-55 years old) in the City of Queretaro, México. We obtained: personal data, family history, habits, such as smoking, alcohol, caffeine (coffee and soft drink of cola) and physical activity. Participants complete the questionnaire on 19 risk factors for osteoporosis (International Osteoporosis Foundation) one of them with risk. We evaluated: body mass index (BMI), cardiovascular risk and corporal complexion. Bone densitometry was performed in two diagnostic regions: lumbar spine and total hip and participants were classified as normal bone mass density (BMD), low BMD and osteoporosis. The prevalence of osteoporosis was 7% and of low BMD was 34%, predominantly in the lumbar region and in those with menopause. In osteoporotic women, the age was higher (51 years) and 85% menopausal women, also lower values of weight, height, BMI, waist circumference and hip than women with normal bone mass density. The significantly modifiable risk factors were: low weight, smoking and consumption of soft drink of cola with 6,5, 1,2 and 1,4 (odds ratio), respectively (p < 0.05). The significantly non-modifiable risk factors were: menopause (surgical), history of fracture and risk. It is concluded that within the modifiable risk factors for the prevention ofosteoporosis, those with the greatest impact were low weight, cigarette and soft drink of cola.

Chemical proximate analysis was done in order to determine the changes of nutritional characteristics of nopal powders from three different maturity stages 50, 100, and 150 days and obtained by three different drying processes: freeze dried, forced air oven, and tunnel. Results indicate that nopal powder obtained by the process of freeze dried retains higher contents of protein, soluble fiber, and fat than the other two processes. Also, freeze dried process had less effect on color hue variable. No changes were observed in insoluble fiber content, chroma and lightness with the three different drying processes. Furthermore, the soluble fibers decreased with the age of nopal while insoluble fibers and ash content shows an opposite trend. In addition, the luminosity and hue values did not show differences among the maturity stages studied. The high content of dietary fibers of nopal pad powder could to be an interesting source of these important components for human diets and also could be used in food, cosmetics and pharmaceutical industry.

Opuntia ficus indica, also known as prickly pads, are an important part of the human diet and are also used as forage for livestock. This is an interesting vegetable due the environmental conditions in which it grows and its resistance to climatic extremes; however, little is known about its nutritional properties, especially in the later stages of maturity. The objective of this study was to determine the composition of organic prickly pads (Opuntia ficus indica) at differing stages of growth maturity. Chemical proximate analysis and mineral constituent analysis at different maturation stages were carried out in this investigation. As a result, older prickly pads were found to be an important source of nutritional components such as calcium.

Background: Iron is essential for mammalian metabolism and its cellular concentration is controlled by regulating its acquisition and storage. Haemochromatosis is a condition involving iron overload that is characterised by increased duodenal iron absorption and a progressive accumulation of iron in vital organs. Hepcidin is the main hormone that regulates iron homoestasis and it is secreted by the liver., Materials and Methods: We have studied how extended hepcidin administration affects the iron load status, plasma and tissue iron concentration, erythropoiesis and the expression of proteins involved on iron homeostasis in haemochromatotic (Hfe(-/-)) and wild-type mice., Results: Hepcidin reverted the high plasma iron concentrations in Hfe(-/-) mice to normal values. The high concentration of hepatic iron was not altered in the liver of these Hfe(-/-) mice. Hepcidin administration did not disturb erythropoiesis in either Hfe(-/-) or wild-type mice and likewise, hepcidin did not modify the expression of any protein analysed in the liver, duodenum or spleen of Hfe(-/-) and wild-type mice. These data confirm that hepcidin administration diminishes plasma iron concentrations., Conclusion: Treatment with sustained doses of hepcidin diminishes plasma iron concentrations in Hfe(-/-) mice.

In order to study in situ the growing process of porous materials, a new electrochemical differential photoacoustic cell (DPC) was developed. This system allows to obtain the thermal signals coming from the growing process of the pores without the external noise component. The DPC is a good system to growth porous silicon and study their growing process with reproducibility. The porous silicon samples were obtained by using electrochemical etching of (100) n-type silicon wafers with different nominal resistivity values in the range of 1-25 Omega cm. The samples were formed in a solution of hydrofluoric acid and ethanol having a composition ratio of 1:1 in volume with etching voltage of 10 V and an etching time of 2 min using back illumination provided by a laser beam with a wavelength of 808 nm. The porous samples were characterized by means of Raman microscopy, x-ray diffraction, and scanning electron microscopy. The crystallite sizes of the samples were obtained through the analysis of the micro-Raman spectra using a phonon confinement model, and the analysis of the x-ray diffractograms.

We were interested in analyzing the regulation by mitogen-activated protein kinases (MAPKs) of cisplatin-provoked toxicity in epithelial renal tubule cell lines, when assayed under culture conditions (cell confluence plus serum deprivation), which mimic the characteristics of a nonproliferating epithelium. Under these restrictive growth conditions, cisplatin induced apoptosis with lower efficacy than in exponentially growing cells, and decreased p38-MAPK phosphorylation in NRK-52E and other (LLC-PK1, MDCK, HK2) cell lines. Moreover, cisplatin-provoked apoptosis was potentiated by cotreatment with p38-MAPK-specific inhibitors (SB203580, SB220025) or transfection with a kinase-negative mutant of MKK6, whereas c-Jun NH2-terminal kinase or extracellular signal-regulated kinase/MAPK and ERK Kinase inhibitors were ineffective. By contrast, when applied to exponentially growing cells, cisplatin stimulated p38-MAPK phosphorylation and apoptosis, was attenuated by kinase inhibitors. Treatment of confluent/serum-deprived cells with cisplatin caused mitochondrial transmembrane potential disruption and activated the mitochondrial apoptotic pathway, as indicated by the decrease in Bcl-X(L) expression, increase in Bax expression and cytochrome c release, and these effects were potentiated by cotreatment with SB203580. Treatment of confluent/serum-deprived cells with cisplatin plus SB203580 decreased the intracellular reduced glutathione (GSH) content, and increased intracellular cisplatin accumulation as well as cisplatin binding to DNA. Cotreatment with the GSH-depleting agent D,L-buthionine-R,S-sulfoximine also potentiated cisplatin-provoked apoptosis. In summary, p38-MAPK inhibition potentiates cisplatin-provoked apoptosis in growth-arrested epithelial renal tubule cells, a result that may be explained at least in part by GSH depletion and drug transport alteration.

A novel differential photoacoustic cell (DPC) for the study of dynamical processes has been developed. The DPC has the capability to measure in real time the amplitude and phase signals for the reference and the sample under study. The simultaneous measurement of both signals eliminates the instrumental function, and the presence of noise, due to any deviation originated by electrical, optical, and environmental factors. The DPC can be used at different temperature profiles in order to obtain the instrumental function IF(t,T). The DPC also has all the elements of an electrochemical cell capable of following the electrochemical processes. As a result of this new instrumentation it is possible to obtain in real time the amplitude and phase signals coming from the sample without any interference from the system and the viability to monitor in situ electrochemical and thermal processes. Two cases are presented as an illustrative demonstration of work fields: the electrodeposition of zinc on a steel substrate as well as the study of water and calcium ion diffusion into organic layers.