The screening of high-risk populations using dried blood spots (DBS) has allowed the rapid identification of patients with Pompe disease, mostly in Neurology departments. The aim of the study was to ...determine the prevalence of late-onset Pompe disease (LOPD) among patients not previously diagnosed or tested for this entity despite presenting possible signs or symptoms of the disease in Internal Medicine departments in Spain. This epidemiological, observational, cross-sectional, multicenter study included a single cohort of individuals with clinical suspicion of LOPD seen at Internal Medicine departments in Spain. The diagnosis of LOPD was initially established on the basis of the result of DBS. If decreased enzyme acid-alpha-1,4-glucosidase (GAA) activity was detected in DBS, additional confirmatory diagnostic measurements were conducted, including GAA activity in lymphocytes, fibroblasts, or muscle and/or genetic testing. The diagnosis of LOPD was confirmed in 2 out of 322 patients (0.6%). Reasons for suspecting LOPD diagnosis were polymyositis or any type of myopathy of unknown etiology (in one patient), and asymptomatic or pauci-symptomatic hyperCKemia (in the other). The time between symptom onset and LOPD diagnosis was 2.0 and 0.0 years. Both patients were asymptomatic, with no muscle weakness. Additionally, 19.7% of the non-LOPD cases received an alternative diagnosis. Our study highlights the existence of a hidden population of LOPD patients in Internal Medicine departments who might benefit from early diagnosis and early initiation of potential treatments.
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•It is possible to obtain a steel with good behavior in its mechanical properties.•The Ni-P coating is of high density, with acceptable adhesion, good homogeneity.•The coating has a ...thickness of 32.18 µm and hardness of the order of 500 HV.•The XRD study shows an amorphous coating with increased corrosion resistance.•Coated material shows a noise resistance of 20 kΩ-cm2 after 576 h of evaluation.
In this work, it has been possible to deposit a Ni-P alloy by electroless nickel plating on the surface of a low carbon steel sample, produced by additive manufacturing. The samples were characterized by SEM, EDS, XRD, white light interferometry, Vickers microhardness, EIS, and ENM techniques. A coating of an amorphous nature is obtained at a deposition rate of 9.19 µm/h, with high homogeneity, average roughness of 86.52 nm, good adhesion to the substrate, and a hardness of the order of 500 HV. The electrochemical characterization allows evidence of a significant increase in corrosion resistance for the coated material with a noise resistance of 20 kΩ-cm2 after 576 h of evaluation.
Both male/female patients with Fabry disease (FD) may receive enzyme replacement therapy (ERT). Previously published analyses of the Fabry Outcome Survey (FOS; Shire-sponsored) database suggested ...gender differences in timing of ERT initiation. We assessed alignment of criteria for ERT initiation in the Spanish adult population included in FOS with recommendations of a Spanish national consensus. This retrospective analysis examined baseline clinical data of 88 adults (49 females) enrolled in the FOS database up to August 2014. Thirty-five (39.8%) patients were not receiving ERT: five (12.8%) males and 30 (61.2%) females. Baseline disease severity on the FOS-derived Mainz Severity Score Index was lower in untreated males (median (interquartile range), 0.0 (0.0-1.0)) than treated males (TM; 15.0 (7.5-26.5)), and was similar in untreated and treated females. The percentage of untreated females with at least one criterion for treatment initiation was 76.7% versus 100.0% of treated females (
= 0.0340) and 97.1% (
= 0.0210) of TM. In discordance with Spanish consensus recommendations, a substantial number of females with evidence of FD who might benefit from ERT have not yet initiated treatment. These results suggest unequal gender perceptions with respect to ERT initiation in Spain.
Effects of extrusion cooking process (ECP) with citric acid (CA) addition on the physicochemical changes and resistant starch (RS) formation in native corn starch (NCS) are evaluated. NCS at ...different feed moisture levels (18–32%) and CA concentrations (0–10.3%), are subject ECP under constant conditions of screw speed (233 rpm) and die temperature (127 °C). The obtained extrudates are stored at 4 °C for 120 h and then at room temperature. The water absorption index (WAI), water solubility index (WSI), RS content, peak temperature (Tp), ∆H, peak viscosity (PV), setback viscosity (SV), FT‐IR, X‐ray analysis and microstructural (SEM) properties are evaluated. RS content and WSI increased with decreasing moisture content (MC), WAI, PV and SV shows that increases in MC caused an increase, while ∆H and Tp decreases with decreasing MC. SEM shows that ECP with CA destroys the granular structure of NCS generated amorphous structures owing to gelatinization and dextrinization. FT‐IR analysis shows that extruded samples with CA cause starch hydrolysis, increasing the intensity of bands 994 and 1016 cm−1 in comparison to NCS. The highest RS yield (1.15 g/100 g) is obtained at 18% moisture content and 5.2% of CA: an increase of 71% with respect to NCS.
The aims of this study are to evaluate and optimize the conditions of extrusion with addition of citric acid (CA) to determine their effects on physical, chemical, structural, rheological properties and resistant starch formation (RSF). It is found the highest RS yield reaches an increase of 71%. These results indicate that addition of CA during extrusion may be advantageous for RSF.
Obstructive sleep apnea (OSA) has been linked to tumorigenesis and tumor progression.
The Sleep Apnea in Lung Cancer (SAIL) study (NCT02764866) was designed to determine the prevalence of OSA in ...patients with lung cancer.
Cross-sectional study including consecutive patients with newly diagnosed lung cancer. All patients were offered home sleep apnea testing (HSAT) and administered a sleep-specific questionnaire prior to initiating oncologic treatment. Sleep study-related variables, symptoms, and epidemiologic data as well as cancer related variables were recorded.
Eighty-three patients were enrolled in the SAIL study. Sixty-six completed HSAT. The mean age was 68 ± 11 years and 58% were male with a mean body mass index of 28.1 ± 5.4. Forty-seven percent were current smokers, 42% former smokers, and 11% never smokers with a median tobacco consumption of 51 pack-years. Fifty percent had COPD with a mean FEV1 of 83 ± 22.6% of predicted and a mean DLCO of 85.5 ± 20.1%. Adenocarcinoma was the most common histologic type (46.7%), followed by squamous cell (16.7%) and small cell (16.7%). Most patients were diagnosed at an advanced stage (65% in stages III-IV). The vast majority (80%) had OSA (apnea-hypopnea index AHI > 5), and 50% had moderate to severe OSA (AHI > 15) with a mean Epworth Sleepiness Score of 7.43 ± 3.85. Significant nocturnal hypoxemia was common (Median T90: 10.9% interquartile range 2.4-42.2).
Sleep apnea and nocturnal hypoxemia are highly prevalent in patients with lung cancer.
Summary
Immunotherapy is distinct from traditional chemotherapy in that it acts on immune cells rather than cancer cells themselves. Monoclonal antibodies targeting immune checkpoints on T cells – ...CTLA‐4 and PD‐1 – and PD‐L1 on the cells of immune microenvironment are now approved for clinical use in several solid tumors and hematological malignancies. This article provides a general overview of the use of checkpoint inhibitors in hematologic malignancies with a special focus in acute myeloid leukemia.
The concretisation of the Chicago School solidified and inscribed in the city their obsession with the ‘Negro Problem’, race, race relations and (im)migration. Their fixation not only framed modern ...sociology with an emphasis on the ‘Other’ but cemented a taken-for-granted undergirding of Whiteness at its base. As a discipline, until we can name, point out, understand and highlight that form of violence, urban sociology will be deficient in understanding the city, particularly, but not limited to the US. As an alternative, I offer Du Boisian sociology, critical race theory, and global critical race and racism to aid in moving away from an unstated Whiteness. This article shows how Whiteness is at the base of the urban question and its consequences via the trajectory of the first sociologists of colour trained at the Chicago School, the work on the ghetto, underclass and the effects of such work.
Abstract It is known that patients with schizophrenia show a deficiency in the prepulse inhibition reflex (PPI). These patients display abnormalities in autonomic nervous system and ...hypothalamic–pituitary–adrenal function and may have an altered sensitivity to stress. To date, no studies have been carried out to determine the effect of acute stress on the PPI. We investigated whether there was a differential response in reactivity to acute stress caused by the socially evaluated cold-pressor test (SECPT) in a sample of 58 chronic male patients with schizophrenia and 28 healthy control subjects. PPI, salivary cortisol and heart rate (HR) were measured. The patients were evaluated in two sessions (with and without the SECPT) 72 h apart and basal measurements were carried out and 30 min post-startle probe. We found an increase in salivary cortisol levels and the HR with SECPT condition in both groups and a significantly lower PPI% in patients with schizophrenia. The most relevant findings of this study are that the impairment of the PPI is increased by stress. Stress-induced increase in cortisol in both groups, mainly in healthy control group which allows us to hypothesize that at least such deterioration may be due to the hypercortisolemia caused by the SECPT.
Techinantitla building complex, in the Amanalco neighborhood of the ancient city of Teotihuacan, is famous for the iconography and quality of the mural paintings found in this site. A significant ...part of this heritage has been lost due to looting. In recent years, an interdisciplinary research project was developed to study the limited patrimony that was left. As part of this study, we first employed geophysical techniques to reconstruct the architectural pattern of the compound’s remaining walls, where other paintings may still be found. Then, we applied a non-invasive methodology to characterize a large set of fragments recovered in the 1980s and to gain information on their pigments and manufacturing techniques. This methodology included False Color Infrared Imaging, X-ray Fluorescence and Fiber-Optics Reflectance Spectroscopy, and led to the identification of hematite, calcite, malachite, azurite and an unidentified blue pigment. The results were compared with a previous study performed on a set of Techinantitla mural paintings looted in the 1960s. A broader comparison with contemporary mural paintings from other Teotihuacan complexes shows good agreement in the materials used. These results may suggest a standardization in the making of Teotihuacan mural painting during the Xolapan period (350 to 550 AD).
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