Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease.

INTRODUCTION: Charcot-Marie-Tooth disease (CMT) is classified according to neurophysiological and histological findings, the inheritance pattern, and the underlying genetic defect. The objective of these guidelines is to offer recommendations for the diagnosis, prognosis, follow-up, and treatment of this disease in Spain. MATERIAL AND METHODS: These consensus guidelines were developed through collaboration by a multidisciplinary panel encompassing a broad group of experts on the subject, including neurologists, paediatric neurologists, geneticists, physiatrists, and orthopaedic surgeons. RECOMMENDATIONS: The diagnosis of CMT is clinical, with patients usually presenting a common or classical phenotype. Clinical assessment should be followed by an appropriate neurophysiological study; specific recommendations are established for the parameters that should be included. Genetic diagnosis should be approached sequentially; once PMP22 duplication has been ruled out, if appropriate, a next-generation sequencing study should be considered, taking into account the limitations of the available techniques. To date, no pharmacological disease-modifying treatment is available, but symptomatic management, guided by a multidiciplinary team, is important, as is proper rehabilitation and orthopaedic management. The latter should be initiated early to identify and improve the patient's functional deficits, and should include individualised exercise guidelines, orthotic adaptation, and assessment of conservative surgeries such as tendon transfer. The follow-up of patients with CMT is exclusively clinical, and ancillary testing is not necessary in routine clinical practice.

Reactive oxygen species can be traced locally and systemically in apical periodontitis: A systematic review.

OBJECTIVES: The aim of this systematic review was to summarize the existing evidence on the local production and systemic traces of reactive oxygen species (ROS) in apical periodontitis (AP). DESIGN: A search of MEDLINE-PubMed and EMBASE was conducted up to January 12 of 2021 to identify studies in 6 different languages. Eligibility was evaluated and data were extracted from the eligible studies following the predefined objective. The Newcastle-Ottawa Scale was used for quality assessment of the included studies. RESULTS: After screening, 21 papers met the inclusion criteria. Six studies were about systemic oxidative stress, 14 studies examined local production of reactive oxygen species and one studied both. ROS modulate cell signalling and cause oxidant imbalance locally at the site of AP. Cell signalling leads to a pro-inflammatory response, activation of MMPs and formation and progression of the AP lesion. Simultaneously, these oxidative stress biomarkers are also found in blood and saliva of subjects with AP. CONCLUSIONS: Understanding the mechanism of ROS generation, involved in chronic inflammation, can provide us with important information to enhance local and systemic healing and possibly improve diagnostic tools. Future research considerations would be to use antioxidants to accelerate the return to oxidative balance.

Search for a Hypothetical 16.7 MeV Gauge Boson and Dark Photons in the NA64 Experiment at CERN.

We report the first results on a direct search for a new 16.7 MeV boson (X) which could explain the anomalous excess of e^{+}e^{-} pairs observed in the excited ^{8}Be^{*} nucleus decays. Because of its coupling to electrons, the X could be produced in the bremsstrahlung reaction e^{-}Z→e^{-}ZX by a 100 GeV e^{-} beam incident on an active target in the NA64 experiment at the CERN Super Proton Synchrotron and observed through the subsequent decay into a e^{+}e^{-} pair. With 5.4×10^{10} electrons on target, no evidence for such decays was found, allowing us to set first limits on the X-e^{-} coupling in the range 1.3×10^{-4}≲ε_{e}≲4.2×10^{-4} excluding part of the allowed parameter space. We also set new bounds on the mixing strength of photons with dark photons (A^{'}) from nonobservation of the decay A^{'}→e^{+}e^{-} of the bremsstrahlung A^{'} with a mass ≲23 MeV.

[Infarction of the spinal cord and of cervical vertebral bodies following consumption of sildenafil]. / Infarto medular y de cuerpos vertebrales cervicales tras consumo de sildenafilo.

TITLE: Infarto medular y de cuerpos vertebrales cervicales tras consumo de sildenafilo.

Optical properties of graphene nanocones under electric and magnetic fields.

Here we present a theoretical study of the optical properties of graphene nanocones tuned by external electric and magnetic fields. We investigate the effects of the size and topology of the carbon nanostructures on the density of states and on the electro- and magneto-absorption of linearly polarized electromagnetic radiation in different nanocone geometries. We find that the electric field induces changes in the electric charge distribution mainly at the cone edges. In the infrared range the absorption coefficient shows a peculiar dependence on the electric field (magnitude and direction) and on the photon polarization for all investigated structures. Our results suggest that the electric field may be used to control the electric charge at the apex and for a selective light absorption. The presence of an axial magnetic field induces new features in the nanocone density of states due to the induced localization effects. For high fields the density of states exhibits a sequence of peaks resembling the graphene Landau spectra. The magneto-absorption spectra present a series of resonances strongly sensitive to the photon polarization opening routes for manipulation of the optical responses.

Effect of high-intensity ultrasound on the technofunctional properties and structure of jackfruit (Artocarpus heterophyllus) seed protein isolate.

The influence of high-intensity ultrasound (HIU) on the technofunctional properties and structure of jackfruit seed protein isolate (JSPI) was investigated. Protein solutions (10%, w/v) were sonicated for 15min at 20kHz to the following levels of power output: 200, 400, and 600W (pulse duration: on-time, 5s; off-time 1s). Compared with untreated JSPI, HIU at 200W and 400W improved the oil holding capacity (OHC) and emulsifying capacity (EC), but the emulsifying activity (EA) and emulsion stability (ES) increased at 400W and 600W. The foaming capacity (FC) increased after all HIU treatments, as opposed to the water holding capacity (WHC), least gelation concentration (LGC), and foaming stability (FS), which all decreased except at pH 4 for FS. Tricine sodium dodecyl sulfate polyacrylamide gel electrophoresis (Tricine-SDS-PAGE) showed changes in the molecular weight of protein fractions after HIU treatment. Scanning electron microscopy (SEM) demonstrated that HIU disrupted the microstructure of JSPI, exhibiting larger aggregates. Surface hydrophobicity and protein solubility of the JSPI dispersions were enhanced after ultrasonication, which increased the destruction of internal hydrophobic interactions of protein molecules and accelerated the molecular motion of proteins to cause protein aggregation. These changes in the technofunctional and structural properties of JSPI could meet the complex needs of manufactured food products.

Search for Invisible Decays of Sub-GeV Dark Photons in Missing-Energy Events at the CERN SPS.

We report on a direct search for sub-GeV dark photons (A^{'}), which might be produced in the reaction e^{-}Z→e^{-}ZA^{'} via kinetic mixing with photons by 100 GeV electrons incident on an active target in the NA64 experiment at the CERN SPS. The dark photons would decay invisibly into dark matter particles resulting in events with large missing energy. No evidence for such decays was found with 2.75×10^{9} electrons on target. We set new limits on the γ-A^{'} mixing strength and exclude the invisible A^{'} with a mass ≲100 MeV as an explanation of the muon g_{µ}-2 anomaly.

Enfermedad granulomatosa crónica en paciente pediátrico y trasplante de médula ósea como tratamiento curativo / Chronic granulomatous disease in pediatric patients and bone marrow transplantation as a curative treatment

INTRODUCCIÓN: La enfermedad granulomatosa crónica (EGC) es una inmunodeficiencia primaria, caracterizada por la incapacidad de células fagocíticas para producir sustancias necesarias para destruir microorganismos. Actualmente, el trasplante de médula ósea como tratamiento curativo de la EGC ha demostrado ser una prometedora alternativa terapéutica. PRESENTACIÓN DEL CASO: Lactante menor de 8 meses, ingresa a Unidad de Cuidados Especiales Pediátricos por cuadro de nueve días de evolución caracterizado por fiebre de 39ºC, calofríos, meteorismo y distensión abdominal, sin foco clínico evidente. EXÁMENES: hemograma con leucocitosis y desviación izquierda, PCR 103 mg/L, urocultivo positivo para bacilos gram negativos e inmunoglobulinas en rango bajo. Cintigrama óseo normal. Ecografía abdominal; hepatomegalia, linfonodos mesentéricos reactivos y líquido ascítico. Gram ganglionar mesentérico; Cándida lusitaniae positiva y dudoso Mycobacterium tuberculosis. Se efectúa estudio con estallido respiratorio, evidenciándose alteración severa compatible con diagnóstico de EGC. Se inicia tratamiento antifúngico, antituberculoso y administración de gammaglobulina endovenosa. Considerando diagnóstico se agrega interferón gamma 50 ug/m2 tres veces por semana. Al controlarse la infección, se realiza Trasplante Alogénico de Precursores Hematopoyéticos (TPH) con sangre de cordón umbilical de donante no emparentado, evidenciándose tres meses posterior al procedimiento remisión de la EGC por un estallido respiratorio normal. Actualmente estable con manejo ambulatorio, cursando anemia hemolítica autoinmune como complicación leve y tardía del TPH. DISCUSIÓN: El diagnóstico precoz e inicio adecuado del tratamiento antimicrobiano e interferón gamma ha modificado favorablemente la morbimortalidad de pacientes con EGC. No obstante, el tratamiento curativo con TPH es una alternativa terapéutica eficaz y prometedora en estos pacientes

INTRODUCTION: Chronic granulomatous disease (CGD) is a primary immunodeficiency, characterized by the inability of phagocytic cells to produce substances needed to destroy certain microorganisms. In recent years, marrow transplantation has been effective for patients with CGD. CASE REPORT: Breastfed infant of eight months was admitted to the Pediatric Special Care Unit for nine days, exhibiting the following symptoms despite no clinical source of infection: a 39°C fever, chills, bloating, and abdominal distension. EXAMS: hemogram showed leukocytosis with left shift, PCR 103 mg/L, positive urine culture for gram-negative bacilli, immunoglobulin in low range. Normal bone scintigraphy. Abdominal ultrasound; hepatomely, reactive mesenteric lymph nodes and ascites fluid. Mesenteric lymph nodes gram: positive for Candida lusitaniae and inconclusive evidence for Mycobacterium tuberculosis. Later, a respiratory burst revealed the absence of an immune response, consistent with a diagnosis of CGD. Antifungal, anti-tuberculosis, and intravenous gamma globulin were administered, as well as 50ug/m2 of interferon gamma delivered three times per week. Once the infection had been controlled, the patient received an Allogeneic Hematopoietic Stem Cell Transplant (HSCT) with cord blood from an unrelated donor. Over the following three months, respiratory burst was normal, evidencing CGD's remission. The patient is currently stable with ambulatory management and a mild case of autoimmune hemolytic anemia, a common delayed-onset complication of an Allogenic HSCT. DISCUSSION: Early diagnosis and appropriate initiation of antimicrobial and interferon gamma treatment favorably impacts the morbidity and mortality of CGD patients. However, an Allogenic HSCT has proven to be an even more effective curative treatment

Effects of applied electric and magnetic fields on a donor impurity in laterally coupled quantum dots.

A theoretical description of the electronic structure, optical spectrum and binding energy of a hydrogenic impurity in laterally coupled quantum discs, under applied electric and magnetic fields, is given within the framework of the effective-mass approach. Calculations are performed using the envelope-function formalism and a variational procedure, with the electric field applied in the coupling direction, the magnetic field along the growth direction, and the impurity at the center of the heterostructure. The results indicate that the anisotropy of the laterally coupled confinement potential leads to interesting relative extrema and anticrossings in the energy spectra, and that the infrared absorption spectrum is sensitive to the type of polarization and magnitude of external fields.

Assessment of the state of food waste treatment in the United States and Canada.

Currently in the US, over 97% of food waste is estimated to be buried in landfills. There is nonetheless interest in strategies to divert this waste from landfills as evidenced by a number of programs and policies at the local and state levels, including collection programs for source separated organic wastes (SSO). The objective of this study was to characterize the state-of-the-practice of food waste treatment alternatives in the US and Canada. Site visits were conducted to aerobic composting and two anaerobic digestion facilities, in addition to meetings with officials that are responsible for program implementation and financing. The technology to produce useful products from either aerobic or anaerobic treatment of SSO is in place. However, there are a number of implementation issues that must be addressed, principally project economics and feedstock purity. Project economics varied by region based on landfill disposal fees. Feedstock purity can be obtained by enforcement of contaminant standards and/or manual or mechanical sorting of the feedstock prior to and after treatment. Future SSO diversion will be governed by economics and policy incentives, including landfill organics bans and climate change mitigation policies.

Effect of high-pressure food processing on the physical properties of synthetic and biopolymer films.

The effect of high-pressure processing on 2 plastic food packaging films, a biopolymer (PLASiOx/PLA) and a synthetic polymer (PET-AlOx), was studied. Samples in direct contact with olive oil, as a fatty food simulant, and distilled water, as an aqueous simulant, were subjected to a pressure of 500MPa for 15 min at 50 degrees C. The mechanical, thermal, and gas barrier properties of both films were evaluated after the high-pressure processing (HPP) and compared to control samples that have not undergone this treatment. Significant changes in all properties were observed in both films after the HPP treatment and in contact with the food simulants. In both films an induced crystallization was noticed. In the PLASiOx/PLA film the changes were larger when in contact with water that probably acted as a plasticizer. In the PET-AlOx film the changes in properties were attributed to the formation of pinholes and cracks during the HPP treatment. In this film, most of the properties changed more in the presence of oil as the food simulant.

Voltammetric behaviour of bromhexine and its determination in pharmaceuticals.

A complete electrochemical study and a novel electroanalytical procedure for bromhexine quantitation are described. Bromhexine in methanol/0.1molL(-1) Britton-Robinson buffer solution (2.5/97.5) shows an anodic response on glassy carbon electrode between pH 2 and 7.5. By DPV and CV, both peak potential and current peak values were pH-dependent in all the pH range studied. A break at pH 5.5 in E(P) versus pH plot revealing a protonation-deprotonation (pK(a)) equilibrium of bromhexine was observed. Spectrophotometrically, an apparent pK(a) value of 4.3 was also determined. An electrodic mechanism involving the oxidation of bromhexine via two-electrons and two-protons was proposed. Controlled potential electrolysis followed by HPLC-UV and GC-MS permitted the identification of three oxidation products: N-methylcyclohexanamine, 2-amino-3,5-dibromobenzaldehyde and 2,4,8,10-tetrabromo dibenzo[b,f][1,5] diazocine. DPV at pH 2 was selected as optimal pH for analytical purposes. Repeatability, reproducibility and selectivity parameters were adequate to quantify bromhexine in pharmaceutical forms. The recovery was 94.50+/-2.03% and the detection and quantitation limits were 1.4x10(-5) and 1.6x10(-5)molL(-1), respectively. Furthermore, the DPV method was applied successfully to individual tablet assay in order to verify the uniformity content of bromhexine. No special treatment of sample were required due to excipients do not interfered with the analytical signal. Finally the method was not time-consuming and less expensive than the HPLC one.

Infecciones por Vibrio parahaemolyticus e intoxicaciones por algas: problemas emergentes de salud pública en Chile / Vibrio parahaemolyticus infections and algal intoxications as emergent public health problems in Chile

There is interest in the paradigm that relates environmental sea changes to the emergence of diseases that affect both aquatic organisms in the sea and human beings. The emergence of Vibrio parahaemolyticus as an important cause of epidemic summer diarrhea in 2004 and 2005, confined mainly to the tenth region in Chile, could be a manifestation of this trend. This and other areas of the country have also experienced several outbreaks of paralytic shellfish poisoning (PSP), diarrheal shellfish poisoning (DSP) and amnesic shellfish poisoning (ASP) caused by harmful algal blooms (HAB) of Alexandrium catenella, Dinophysis acuta and Pseudonitzchia species, respectively. The short historical record of these pathological phenomena in Chile suggests that they are increasing in frequency and expanding their geographical range. The V parahaemolyticus isolates responsible for the Chilean outbreaks correspond mainly to the pandemic strain O3:K6. HAB found in Chile and the intoxications caused by them have similar biological characteristics to those described in other areas of the world. The tenth region, the area where these problems are emerging, produces approximately 80-90% of the shellfish consumed in Chile and a large proportion of the shellfish that is exported. Prevention of these public health problems can be attained by developing policies that increase environmental surveillance for Vibrios and toxic algae, improve the epidemiological surveillance of acute diarrhea and algal intoxications after the ingestion of raw bivalves, and educate the population on the mode of transmission of these diseases. Scientific capacity and laboratories need to be developed to widen the limited knowledge of the biology of Vibrio and toxic algae and the environmental factors that favor their emergence as public health and economic problems in Chile.

[Space and time distribution along a succesional gradient of coprofagous coleopterans (Scarabaeinae, Aphodiinae) fauna in a tropical mountain forest, Nariño, Colombia]. / Distribución espacial y temporal en un gradiente de sucesión de la fauna de coleópteros coprófagos (Scarabaeinae, Aphodiinae) en un bosque tropical montano, Nariño--Colombia.

Dung beetles (Scarabaeinae y Aphodiinae) were used to evaluate the effects of human activities in the area surrounding La Planada Natural Reserve, southwestern Colombia. During 1993 we monitored three habitats: primary and secondary forest, and open fields used for cattle grazing. A total of 55,296 trap/hours, evenly distributed among the three habitat types, captured 9,115 individuals (18 species, 11 genera). There were differences in species richness between habitats (F2,9 = 29.88; P < 0.001), an in number of individuals (F 2,9 = 36.22; P < 0.001). Collecting sites differed within habitats. Cluster analyses show that species composition differs between habitats with and without tree cover. Open areas act as barriers for movements of forest species. Differences between habitats and collecting sites may reflect high environmental heterogeneity, land use history of the sites or the influence of nearby disturbance. Some of the species found in open fields come from lower elevations and are usually associated with intense human disturbance. The proportion of digging and rolling species is similar in both primary and secondary forest, nocturnal species are more abundant; in open areas rolling species are absent and the number of diurnal species increases. We found no relationship between rainfall and species richness (r2 = 0.26; P = 0.41), nor between rainfall and number of individuals collected throughout the year (r2 = 0.07; P = 0.84). For all species the number of individuals collected decreased during dry season and during the onset of the rainy season.

Seroprevalencia de la infección por trypanosoma cruzi en escolares de Villahermosa, Tabasco, México / Seroprevalence of trypanosoma cruzi infection in school children from Villahermosa city, Tabasco, México

Objetivo: el propósito de este estudio fue describir la seroprevalencia de la infección por Trypanosoma cruzi en niños menores de 18 años de Villahermosa, Tabasco, y relacionarla con la presencia del vector. Pacientes y método: en 268 niños, 57,4 por ciento mujeres, se determinó la presencia de anticuerpos específicos de la clase IgG para T. cruzi en suero por ELISA. Se registró edad, sexo conocimiento del vector y antecedentes de contacto visual con este en su casa o en zonas rurales. Resultados: la frecuencia total de positividad fue de 0,3 por ciento. Los anticuerpos resultaron positivos en 1,8 por ciento en casos de 4 a 8 años; en 3,9 por ciento de 8 a 12 años; 2,2 por ciento de 12 a 16 años y 4,8 por ciento personas de 16 a 18 años; en 2,6 por ciento de las niñas y 3,5 por ciento de los varones. De los integrantes de la muestra, 13,4 por ciento conocían al vector, 1,5 por ciento lo vio en su casa y 18,7 por ciento en zonas rurales. Entre 51,1 y 58,2 por ciento respondieron no a las tres preguntas y 29,5 a 47,4 por ciento dejaron alguna de ellas sin respuesta. Conclusiones: la seroprevalencia encontrada fue apenas más elevada que la reportada por otros autores en medios similares. La infección se presentó en todas las edades predominando en los niños de mayor edad, no hubo relación con respecto al sexo. Si bien las respuestas a la encuesta epidemiológica fueron incompletas, la frecuencia de respuestas afirmativas pone en evidencia el riesgo de infección en una zona urbana