Aplasia cutis congénita con defecto óseo subyacente: evolución favorable tras manejo conservador.

La aplasia cutis congénita es una rara alteración caracterizada por la ausencia de áreas localizadas de piel en el momento del nacimiento. Suele manifestarse como una lesión solitaria localizada principalmente en el cuero cabelludo, que puede estar asociada con otras malformaciones congénitas. Las complicaciones pueden ser fatales, por lo que es necesario un tratamiento individualizado que vendrá determinado por el tamaño, localización y grado de afectación de estructuras subyacentes. Presentamos un caso de aplasia cutis congénita del cuero cabelludo con múltiples lesiones y defecto óseo subyacente de 3 × 1.5 cm de tamaño, pero sin otras anomalías asociadas. El manejo conservador permitió una adecuada y completa epitelización cutánea con cierre del defecto óseo subyacente sin necesidad de procedimientos invasivos.

The cardiomyopathy of cystic fibrosis: a modern form of Keshan disease.

Introduction: We conducted a study to determine the prevalence of structural heart disease in patients with CF, the characteristics of a cardiomyopathy not previously described in this population, and its possible relationship with nutritional deficiencies in CF. Methods: We studied 3 CMP CF patients referred for heart-lung transplantation and a prospective series of 120 adult CF patients. All patients underwent a clinical examination, blood tests including levels of vitamins and trace elements, and echocardiography with evaluation of myocardial strain. Cardiac magnetic resonance imaging (CMR) was performed in patients with CMP and in a control group. Histopathological study was performed on hearts obtained in transplant or necropsy. Results: We found a prevalence of 10% (CI 4.6%-15.4%) of left ventricular (LV) dysfunction in the prospective cohort. Myocardial strain parameters were already altered in CF patients with otherwise normal hearts. Histopathological examination of 4 hearts from CF CMP patients showed a unique histological pattern of multifocal myocardial fibrosis similar to Keshan disease. Four of the five CF CMP patients undergoing CMR showed late gadolinium uptake, with a characteristic patchy pattern in 3 cases (p < 0.001 vs. CF controls). Selenium deficiency (Se < 60 µg/L) was associated with more severe LV dysfunction, higher prevalence of CF CMP, higher NTproBNP levels, and more severe pulmonary and digestive involvement. Conclusion: 10% of adults with CF showed significant cardiac involvement, with histological and imaging features resembling Keshan disease. Selenium deficiency was associated with the presence and severity of LV dysfunction in these patients.

Molecular characterization of Achromobacter isolates from cystic fibrosis and non-cystic fibrosis patients in Madrid, Spain.

Multilocus sequence typing and nrdA sequence analysis identified 6 different species or genogroups and 13 sequence types (STs) among 15 Achromobacter isolates from cystic fibrosis (CF) patients and 7 species or genogroups and 11 STs among 11 isolates from non-CF patients. Achromobacter xylosoxidans was the most frequently isolated species among CF patients.

Clonal diversity among Burkholderia cepacia complex isolates from cystic fibrosis patients in a reference unit.

INTRODUCTION: The epidemiology of Burkholderia cepacia complex (Bcc) in cystic fibrosis (CF) is not widely known. METHODS: All CF patients with Bcc between 2002 and 2011 were reviewed, and a molecular analysis of isolates was performed. RESULTS: The prevalence of Bcc infection was 7.2% (18/250). Molecular analysis of 16 Bcc isolates showed 5 species (7 B. contaminans, 6 B. cepacia, 1 B. cenocepacia, 1 B. multivorans, and 1 B. stabilis) and 13 sequence types. There were no cases of cross-transmission. CONCLUSION: A high diversity of Bcc species was found in infected CF patients.

Variation in perceived health across gender, working status, educational level, and regional health care expenditure in Spain (2014-2017).

A gender perspective was used to analyze whether and how education, unemployment, and per capita public health expenditure were associated with perceived health among the Spanish population between the years 2014 and 2017. Using multilevel methodologies (looking at year, individual, and region) and linear and logistic specifications, we analyzed longitudinal microdata files from the Survey on Living Conditions. The results suggest that women with lower educational levels tend to report worse health than their more educated counterparts. On the other hand, women's bad health was not associated with unemployment, unlike men's. Regional per capita public health expenditure was not associated with perceived health in either men or women.

Quality of life with palbociclib plus fulvestrant versus placebo plus fulvestrant in postmenopausal women with endocrine-sensitive hormone receptor-positive and HER2-negative advanced breast cancer: patient-reported outcomes from the FLIPPER trial.

Background: In the FLIPPER trial, palbociclib/fulvestrant significantly improved progression-free survival (PFS) compared with placebo/fulvestrant in postmenopausal women with HR+/HER2- advanced breast cancer (ABC). Objective: We assessed health-related quality of life (QoL) using patient-reported outcomes (PROs). Design and methods: In this phase II double-blinded study, PROs were assessed at baseline after every three cycles and at the end of the treatment using the European Organisation for Research and Treatment of Cancer QLQ-C30 and QLQ-BR23. Time to deterioration (TTD) in global health status (GHS)/QoL was defined as a decrease of ⩾10 points. Changes from baseline (CFB) and TTD were analysed using linear mixed-effect and Cox regression models, respectively. Results: Of the 189 randomised (1:1) patients, 178 (94%) completed ⩾1 post-baseline assessment; 50% received ⩾22 cycles of study treatment, with a questionnaire compliance >90%. Mean baseline scores were comparable between arms. GHS/QoL scores were maintained throughout the palbociclib/fulvestrant treatment. CFB showed significant differences for GHS/QoL, appetite loss, constipation and systemic therapy side effect scores favouring placebo/fulvestrant. TTD in GHS/QoL was delayed in placebo/fulvestrant versus palbociclib/fulvestrant [30.3 versus 11.1 months; adjusted hazard ratio (aHR): 1.57, 95% CI: 1.03-2.39, p = 0.036]; this difference was not significant in patients with progressive disease (aHR: 1.2, 95% CI: 0.6-2.2, p = 0.658). No statistically significant differences in TTD were found for the other QLQ-C30 and QLQ-BR23 scales. Conclusions: Although TTD in GHS/QoL was prolonged with placebo/fulvestrant, no differences were observed on other functional or symptom scales. This finding and the improvement in PFS support the combination of palbociclib/fulvestrant as a beneficial therapeutic option for HR+/HER2- ABC. Trial registration number: Sponsor Study Code: GEICAM/2014-12EudraCT Number: 2015-002437-21ClinTrials.gov reference: NCT02690480.

Reactive fillers based on SWCNTs functionalized with matrix-based moieties for the production of epoxy composites with superior and tunable properties.

Composite materials based on epoxy matrix and single-walled carbon nanotubes (SWCNTs) are able to exhibit outstanding improvements in physical properties when using a tailored covalent functionalization with matrix-based moieties containing terminal amines or epoxide rings. The proper choice of grafted moiety and integration protocol makes it feasible to tune the composite physical properties. At 0.5 wt% SWCNT loading, these composites exhibit up to 65% improvement in storage modulus, 91% improvement in tensile strength, and 65% improvement in toughness. A 15 °C increase in the glass transition temperature relative to the parent matrix was also achieved. This suggests that a highly improved interfacial bonding between matrix and filler, coupled to improved dispersion, are achieved. The degradation temperatures show an upshift in the range of 40-60 °C, which indicates superior thermal performance. Electrical conductivity ranges from ~10(-13) to ~10(-3) S cm(-1), which also shows the possibility of tuning the insulating or conductive behaviour of the composites. The chemical affinity of the functionalization moieties with the matrix and the unchanged molecular structure at the SWCNT/matrix interface are responsible for such improvements.

Influence of air oxidation on the surfactant-assisted purification of single-walled carbon nanotubes.

Arc discharge single-walled carbon nanotube (SWCNT) soot was treated under different experimental conditions including gas- and liquid-phase oxidation, heat treatment in an inert gas, and hydrogen gasification. Afterward, the samples were dispersed in a surfactant and centrifuged at a moderately high speed. Near-infrared spectra of all the dispersions were compared with that of raw SWCNT soot. The relative intensity of SWCNT characteristic spectral bands strongly increased for air-oxidized samples after centrifugation, while it did not substantially change for samples oxidized with nitric acid or reduced with hydrogen. The relative SWCNT spectral intensity was associated to the sample purity through the so-called purity index, which was calculated from the S(22) band transition of semiconducting SWCNTs. Air-oxidized samples experienced a 7-fold increase in the purity index during centrifugation, while it increased by only 2-3 times for nonoxidized samples. Air oxidation specifically improves the preferential stability of SWCNTs over carbonaceous impurities in the dispersions, leading to the highest purity index values reported so far.

A photo-induced electron transfer study of an organic dye anchored on the surfaces of TiO2 nanotubes and nanoparticles.

We report on femtosecond-nanosecond (fs-ns) studies of the triphenylamine organic dye (TPC1) interacting with titania nanoparticles of different sizes, nanotubes and nanorods. We used time-resolved emission and absorption spectroscopy to measure the photoinduced dynamics of forward and back electron transfer processes taking place in TPC1-titania complexes in acetonitrile (ACN) and dichloromethane (DCM) solutions. We observed that the electron injection from the dye to titania occurs in a multi-exponential way with the main contribution of 100 fs from the hot excited charge-transfer state of anchored TPC1. This process competes with the relaxation of the excited state, mainly governed by solvation, that takes place with average time constants of 400 fs in ACN and 1.3 ps in DCM solutions. A minor contribution to the electron injection process takes place with longer time constants of about 1-10 ps from the relaxed excited state of TPC1. The latter times and their contribution do not depend on the size of the nanoparticles, but are substantially smaller in the case of nanotubes (1-3 ps), probably due to the caging effect. The contribution is also smaller in DCM than in ACN. The efficient back recombination takes place also in a multi-exponential way with times of 1 ps, 15 ps and 1 ns, and only 20-30% of the initial injected electrons in the conduction band are left within the first 1 ns after excitation. The faster recombination rates are suggested due to those originating from the free electrons in the conduction band of titania or the electrons in the shallow trap states, while the slower recombination is due to the electrons in the deep trap states. The results reported here should be relevant to a better understanding of the photobehaviour of an organic dye with promising potential for use in solar cells. They should also help to determine the important factors that limit the efficiency of solar cells based on the triphenylamine-based dyes for solar energy conversion.

[Abdominoperineal resection in anal cancer: Reconstruction of the perineum with a myocutaneous flap from the anterior rectus abdominis muscle]. / Resección abdominoperineal en cáncer anal: reconstrucción del periné con colgajo miocutáneo de músculo recto anterior abdominal.

INTRODUCTION: Abdominoperineal resection after radiotherapy has a high rate of perineal wound complications. The aim of this retrospective study was to evaluate the results of perineal reconstruction with a rectus abdominis muscle myocutaneous flap in patients with recurrent or persistent anal cancer. PATIENTS AND METHOD: Between 2006 and 2010, six male HIV+ patients were treated after initial treatment failure with chemotherapy. An anterior rectal myocutaneous flap was performed after abdominal-perineal excision. RESULTS: The mean age was 36.3 years (range: 30-42). Primary healing of the perineal wound was achieved in the first thirty days. There were no major complications in the immediate post-surgical period or after a mean follow up of 26.5 months. There were 2 (33.3%) minor complications associated with the perineal wound. There were no complications of the abdominal wall. CONCLUSION: The use of an anterior rectus abdominis myocutaneous flap in patients with recurrent or persistent anal cancer is associated with a low rate of perineal complications.

Colchicine in Recently Hospitalized Patients with COVID-19: A Randomized Controlled Trial (COL-COVID).

BACKGROUND: Colchicine has been proposed as a potential therapy in coronavirus disease 2019 (COVID-19) due to their anti-inflammatory actions. METHODS: The COL-COVID study was a prospective, randomized, controlled and open-label clinical trial that compared colchicine added to standard treatment vs standard treatment in hospitalized COVID-19 patients that do not need mechanical ventilatory support. Colchicine was initiated within the first 48 hours of admission at a 1.5 mg loading dose, followed by 0.5 mg b.i.d. for one week and 0.5 mg per day for 28 days. The study endpoints were clinical status (7-points WHO ordinal scale) and inflammatory biomarkers (IL-6 and CRP). RESULTS: A total of 103 patients (51±12 years, 52% male) were randomly allocated to colchicine arm (n=52) and control arm (n=51). At day 28, all patients in the colchicine group were alive and discharged, whereas in the control group, two patients died in-hospital and one patient remained hospitalized. Clinical improvement in terms of changes on WHO scale at day 14 and 28 and time to 1-point clinical improvement did not differ between the two groups. Clinical deterioration (increase of at least 1-point in WHO scale) was observed in a higher proportion of cases in colchicine group (13.8%) vs control group (5.8%) (p=0.303); after adjustment by baseline risk factors and concomitant therapies, colchicine therapy was associated with a lower risk of clinical deterioration (p=0.030). Inflammatory biomarkers CRP and IL-6 concentrations course did not differ between the two arms. CONCLUSION: In hospitalized COVID-19 patients, colchicine treatment neither improved the clinical status, nor the inflammatory response, over the standard treatment. Nevertheless, a preventive effect for further clinical deterioration might be possible. TRIAL REGISTRATION: NCT04350320.

Shigella sonnei bacteraemia in a cystic fibrosis patient: case report and literature review.

>INTRODUCTION: Shigellosis has a gastrointestinal presentation of variable severity in which bacteraemia is uncommon. We describe the first reported case of Shigella sonnei bacteraemia and intestinal coinfection with Clostridioides difficile in a cystic fibrosis patient. The literature on S. sonnei bacteraemia in adult and paediatric populations is also reviewed. CASE PRESENTATION: A 29-year-old male with cystic fibrosis presented with profuse acute watery diarrhoea, abdominal pain, shivering and fever. The patient showed mixed cardiogenic and septic shock. Despite antibiotic therapy, volume replacement therapy and vasoactive drugs, the patient showed biventricular dysfunction and multiple organ failure requiring implantation of an intra-aortic balloon pump (IABP) with extracorporeal membrane oxygenation (ECMO). C. difficile and S. sonnei were detected in the stools. Escherichia coli was identified in the blood by matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) mass spectrometry, although after re-evaluation with biochemical and antiserum agglutination tests, the isolate was confirmed as S. sonnei. After adjustment of the antibiotic therapy to vancomycin, meropenem, amikacin and metronidazole and continuing with ECMO and IABP support for 8 days, the patient improved and was finally discharged after 44 days. CONCLUSION: S. sonnei bacteraemia is an unusual entity that should be kept in mind because of the severity of its presentation and high mortality. In acute gastroenteritis and fever, especially in paediatric patients under 5 years old and adults with criteria for immunosuppression or chronic diseases, blood and stool cultures provide simple information that is nonetheless very important for the management and prognosis of these patients.

Disclosing a LGB Sexual Identity When Living in an Elderly Long-Term Care Facility: Common and Best Practices.

This study aims at exploring staff perceptions of common and best practices toward a situation in which an older resident discloses their non-heterosexual sexual identity, differentiating between gay men, lesbians, and bisexuals. A total of 2,254 staff members from 96 Spanish long-term care facilities took part in the study. They were asked about what they think most of their workmates would do and what they think should be done in a situation in which an older resident discloses his/her non-heterosexual sexual orientation. The results indicate that, in general, staff's attitudes to non-heterosexual older residents' disclosure of their sexual identity are quite tolerant and open. However, differences in staff perceptions of common and best practices indicate that there is still potential for improvement. Results underline that factors such as residents' sexual identity (and particularly, bisexuality), generation, professional position, and the prevailing model of care influence staff responses.

[Isolation of Nocardia species in patients with cystic fibrosis]. / Aislamiento de Nocardia en pacientes con fibrosis quística.

The isolation of Nocardia species from the respiratory secretions of patients with cystic fibrosis presents problems with important clinical implications. From the sputum culture of a total of 387 patients with cystic fibrosis, Nocardia species was isolated in 9 cases (2%; 8 females and 1 male) with a mean (SD) age of 17 (7) years. Sixty-seven percent of the patients were asymptomatic and no relevant radiographic or analytical changes were detected. In only 3 patients was of Nocardia species isolated again in successive samples. Two patients were not treated, 7 were treated with cotrimoxazole and 3 with minocycline; in 2 cases therapy was intravenous. After a mean follow-up of 48 (33) months, all patients had improved. Isolation of Nocardia species from the secretions of patients with cystic fibrosis does not necessarily imply infection and the need for treatment should be assessed on an individual basis.

[Nontuberculous mycobacterial infection in patients with cystic fibrosis: a multicenter prevalence study]. / Estudio multicéntrico de prevalencia de micobacterias ambientales en pacientes con fibrosis quística.

OBJECTIVE: To determine the prevalence of nontuberculous mycobacterial infection in patients with cystic fibrosis. PATIENTS AND METHODS: We performed a prospective study in which patients with cystic fibrosis were followed for 2 years; the patients were recruited from specialized units and were all over 6 years old. Sputum samples collected every 6 months were stained with auramine-rhodamine and cultures were prepared with a liquid and a solid medium. When stains or cultures were positive for nontuberculous mycobacteria, 1 or 2 additional sputum samples were obtained from the patients, who were monitored closely to assess the need for specific treatment. We assessed the following clinical variables: age, sex, presence of pancreatic insufficiency, use of aerosol antibiotic therapy, and long-term azithromycin and inhaled or oral corticosteroid therapies. RESULTS: A total of 220 patients (119 women) with a mean age of 22.62 years (range, 6-74 years) were enrolled; of these 23.6% were receiving azithromycin. We prepared 1303 sputum samples for mycobacterial growth (range per patient, 4-68 samples); 65 samples from a total of 17 patients (7.72%) were positive: 17 by auramine-rhodamine staining and 48 by culture. Eighty-eight culture samples were contaminated and Mycobacterium tuberculosis was not isolated in any of the cases. The mycobacteria isolated were M avium complex (n=10), M abscessus (n=6), and M fortuitum (n=1). Two or more positive cultures were obtained in 9 patients, 5 of whom experienced clinical deterioration and were prescribed specific treatment. No significant differences in clinical variables were found between patients with nontuberculous mycobacteria and those without. CONCLUSIONS: The prevalence of nontuberculous mycobacterial infection in patients with cystic fibrosis was not very high (7.72%), perhaps because azithromycin interfered with the growth of these bacteria. Patients with repeat isolations of mycobacteria should be monitored closely.

Testosterone Replacement Therapy in Deficient Patients With Chronic Heart Failure: A Randomized Double-Blind Controlled Pilot Study.

BACKGROUND: Testosterone deficiency is associated with heart failure (HF) progression and poor prognosis. Testosterone therapy has been shown to improve exercise capacity in patients with chronic HF, but no trial has evaluated the impact of replacement in patients with demonstrated testosterone deficiency. METHODS: Prospective, randomized, double-blind, placebo-controlled, and parallel-group trial comparing testosterone replacement with placebo in males with chronic HF with reduced ejection fraction (HFrEF) and testosterone deficiency (NCT01813201). Long-acting undecanoate testosterone at a fixed dose of 1000 mg was supplied by intramuscular injection at inclusion and then every 3 months. The placebo group received isotonic saline serum. Patients were randomly allocated 1:1 to testosterone or placebo while receiving optimal medical therapy, and the study was conducted for 12 months. RESULTS: The final sample comprised 29 patients, 15 in the placebo group and 14 in the testosterone group (aged 65 ± 8, 62% with an ischemic etiology, left ventricular ejection fraction [LVEF] 30% ± 6%, 69% New York Heart Association functional [NYHA II]). After 12 months, testosterone replacement increased testosterone levels ( P = .002) but was not associated with benefit in terms of clinical symptoms and functional capacity including NYHA class, Framingham score, Minnesota Living Heart Failure Questionnaire, 6-minute walk test, or LVEF and N-terminal pro-B-type natriuretic peptide levels. No significant side effects associated with testosterone treatment were observed. No effects were found in other hormonal, metabolic, and bone turnover biomarkers. CONCLUSION: In patients with HFrEF and testosterone deficiency, replacement therapy was not associated with any significant improvement.

FTIR and thermogravimetric analysis of biotin-functionalized single-walled carbon nanotubes.

We report the covalent functionalization of single-walled carbon nanotubes (SWNTs) with biotin. The synthesized functionalized SWNT materials were fully characterized by FTIR and thermogravimetric analysis. These characterization techniques provided valuable information concerning the nature of the obtained SWNT materials as well as the efficiency of the employed synthetic route towards SWNT covalent functionalization with biotin.

DFT-based prediction of high-pressure H2 adsorption on porous carbons at ambient temperatures from low-pressure adsorption data measured at 77 K.

Hydrogen adsorption isotherms were measured both at cryogenic temperatures below 1 atm and at ambient temperature at high pressures, up to 90 atm, on selected porous carbons with various pore structures. The nonlocal density functional theory (NLDFT) model was used to calculate the pore size distributions (PSDs) of the carbons, from H2 adsorption isotherms measured at 77 K, and then to predict H2 adsorption on these carbons at 87 and 298 K. An excellent agreement between the predicted and measured data was obtained. Prior to analyzing the porous carbons, the solid-fluid interaction parameters used in the NLDFT model were derived from H2 adsorption data measured at 77 K on nonporous carbon black. The results show that the NLDFT model with appropriate parameters may be a useful tool for optimizing carbon pore structures and designing adsorption systems for hydrogen storage applications.

Hydrogen capacity of palladium-loaded carbon materials.

Several samples of palladium-loaded single-wall carbon nanotubes and palladium-loaded MAXSORB activated carbon were prepared by means of the reaction of the raw carbon support with Pd2(dba)3.CHCl3. When carbon nanotubes were used as the support, the palladium content in the samples reached 13-31 wt % and fine particles of 5-7 nm average size were obtained. In the case of the samples with MAXSORB as the support, the palladium content was higher (30-50 wt %) and the particle size larger (32-42 nm) than in the nanotube samples. At 1 atm and room temperature, the hydrogen capacity of the palladium-loaded samples exceeds 0.1 wt % and is much higher than the capacity of the raw carbon supports (less than 0.01 wt %). The maximum hydrogen capacity at 1 atm and room temperature was found to be 0.5 wt %. A maximum hydrogen capacity of 0.7 wt % was obtained at 90 bar in a palladium-loaded MAXSORB sample, while the capacities for the raw carbon nanotubes and MAXSORB at the same pressure were 0.21 and 0.42 wt %, respectively. At low pressure, it was observed that the H/Pd atomic ratios in the palladium-loaded samples were always higher than in the bulk Pd. The spillover effect is considered as a possible cause of the high H/Pd atomic ratios. On the other hand, the effect of the pressure increase on the spillover was observed to be very low at high pressure and room temperature.