Laboratory study of rotationally inelastic collisions of CO2 at low temperatures.

The rotational relaxation of CO2 by inelastic collisions has been studied in three supersonic jets. The jets were probed by means of Raman spectroscopy with high spectral and spatial resolutions, measuring the rotational populations and the total number density. The time evolution of the rotational populations was analyzed by means of a kinetic master equation, with the help of the energy-corrected sudden power law to relate the numerous state-to-state rate (STS rates) coefficients. In the thermal range investigated, 60-260 K, the STS rates decrease with increasing temperature and with increasing change in the rotational quantum number. Other quantities of interest for fluid dynamics, such as the rotational collision number, the relaxation cross section, and the bulk viscosity, have been derived from the STS rates.

[RYR1 myopathies in childhood: phenotype-genotype correlation and incidence]. / Miopatías RYR1 en la infancia: correlación fenotipo-genotipo e incidencia.

INTRODUCTION: Ryanodine receptor type 1-related myopathies (RYR1-RM) represent the most prevalent category of congenital myopathies. The introduction of genetic techniques has shifted the diagnostic paradigm, suggesting the prioritization of molecular studies over biopsies. This study aims to explore the clinical and epidemiological characteristics of patients with RYR1 gene variants in a tertiary pediatric hospital, intending to enhance the understanding of the genotype-phenotype correlation in RYR1-RM. PATIENTS AND METHODS: An observational, descriptive, and cross-sectional study was conducted on patients under 14 years old with myopathic symptoms and potentially pathogenic RYR1 gene variants from January 2013 to December 2023. Variables such as gender, age, motor development, genetic variants, inheritance pattern, and other manifestations were considered. All variables were tabulated against the genetic variant. RESULTS: Of the nine included patients, the estimated incidence was approximately 1 in 10,000 live births. The median age at diagnosis was six years, with significant phenotypic variability. Common symptoms such as weakness and delayed motor development were observed. Genetic variants affected the RYR1 gene diversely, including five previously undescribed variants. Muscle biopsy was performed in five patients, revealing central core myopathy in two, multiminicore in one, congenital fiber-type disproportion in one, and a nonspecific pattern in another. CONCLUSIONS: RYR1-RM in our series exhibited phenotypic and involvement variability, with an incidence in our area of around 1 in 10,000 live births. Most cases were male, with dominant missense variants. We contribute five previously undescribed genetic variants.

TITLE: Miopatías RYR1 en la infancia: correlación fenotipo-genotipo e incidencia.Introducción. Las miopatías relacionadas con el receptor de rianodina de tipo 1 (RYR1-RM) constituyen la categoría más frecuente de miopatías congénitas. La introducción de técnicas genéticas ha cambiado el paradigma diagnóstico y sugiere la prioridad de estudios moleculares sobre biopsias. Este estudio busca explorar las características clinicoepidemiológicas de pacientes con variantes del gen RYR1 en un hospital pediátrico de tercer nivel con el objetivo de ampliar la comprensión de la correlación genotipo-fenotipo en las RYR1-RM. Pacientes y métodos. Estudio observacional, descriptivo y transversal, de pacientes menores de 14 años con síntomas miopáticos y variantes potencialmente patógenas del gen RYR1 entre enero de 2013 y diciembre de 2023, considerando variables como sexo, edad, desarrollo motor, variantes genéticas, patrón de herencia y otras manifestaciones. Todas las variables fueron tabuladas frente a la variante genética. Resultados. De los nueve pacientes incluidos, la incidencia estimada fue de aproximadamente 1/10.000 nacidos vivos. La mediana en el momento del diagnóstico fue de 6 años, con una variabilidad fenotípica significativa. Se observaron síntomas comunes, como debilidad y retraso del desarrollo motor. Las variantes genéticas afectaron al gen RYR1 de manera diversa, y hubo cinco variantes previamente no descritas. La biopsia muscular se realizó en cinco pacientes, en dos de ellos de tipo miopatía central core; en uno, multiminicore; en uno, desproporción congénita de fibras; y en otro, de patrón inespecífico. Conclusiones. Las RYR1-MR de nuestra serie ofrecieron variabilidad fenotípica y de afectación, con una incidencia en nuestra área de en torno a 1/10.000 recién nacidos. La mayoría de los casos fueron varones, de variantes missense dominantes. Aportamos cinco variantes genéticas no descritas con anterioridad.

[Debut and evolution MRI images of a child with a new genetic variant of vanishing white matter leukodystrophy]. / Imágenes de resonancia magnética de inicio y evolución de un niño con nueva variante genética de leucodistrofia evanescente.

TITLE: Imágenes de resonancia magnética de inicio y evolución de un niño con nueva variante genética de leucodistrofia evanescente.

Efecto del Sacubitril / Valsartan sobre las variables clínicas, de laboratorio y ecocardiográficas utilizadas para el control de la insuficiencia cardíaca con fracción de eyección del ventrículo izquierdo reducida (FEVIr) de los pacientes activos del Programa de Insuficiencia Cardíaca (PIC) del Hospital Clínica Bíblica / Effect of Sacubitril / Valsartan on the clinical, laboratory and echocardiographic variables used for the control of heart failure with reduced left ventricular ejection fraction (LVEFr) in active patients of the Heart Failure Program (HFP) of the Hospital Clínica Bíblica

Resumen Introducción y objetivos: La Insuficiencia Cardíaca (IC) es un síndrome frecuente en la población adulta. Sacubitril / Valsartán (S/V) es un tratamiento novedoso para esta patología. El presente estudio pretende analizar el efecto de este medicamento sobre las variables clínicas, de laboratorio y ecocardiográficas en pacientes con IC con FEVIr. Metodología: Se realizó un estudio observacional retrospectivo de los expedientes de los pacientes del PIC que tuvieran prescrito S/V. De estos, se recopilaron datos basales y de seguimiento de los principales parámetros de relevancia pronóstica, para estos pacientes. Luego se cuantificaron los cambios generados en el tiempo una vez establecido el tratamiento y se hicieron análisis estadísticos para validar si los cambios fueron significativos. Resultados: De la totalidad de pacientes del PIC, 27 cumplieron los criterios de inclusión, con una edad promedio de 70 años y en donde 37.0% se encontraron en la dosis meta después de un seguimiento promedio de 16.4 meses. A través del estudio fue posible encontrar una diferencia estadísticamente significativa para el cambio en la FEVI para 17 pacientes (p=0.016). En los pacientes en los que se pudo recopilar la información se observó que el NT-proBNP mejoró en un 68.75%, por su parte la caminata de 6 minutos mejoró en un 77.8%. Además, solamente 7.4% de los pacientes empeoraron en su escala funcional NYHA, 7.4% fallecieron y 3.7% sufrieron hospitalización durante el estudio. Conclusiones: Basados en los parámetros estudiados y a través de los cambios generados durante el tiempo de seguimiento, fue posible definir una mejoría en los pacientes tras el uso de S/V, asociado también a una baja mortalidad e incidencia de hospitalizaciones.

Abstract Effect of Sacubitril / Valsartan on the clinical, laboratory and echocardiographic variables used for the control of heart failure with reduced left ventricular ejection fraction (LVEFr) in active patients of the Heart Failure Program (HFP) of the Hospital Clínica Bíblica Introduction and objectives: Heart failure (HF) is a common syndrome in the adult population. Sacubitril /Valsartan (S/V) is a novel treatment for this pathology. This study aims to analyze the effect of this medication on clinical, laboratory and echocardiographic variables in patients with HF and left ventricular eyección fracción reduced (LVEFr). Methodology: A retrospective observational study was conducted on patients records who are enrolled in the Heart Failure Program (HFP) and have been prescribed with S/V. For these patients, baseline and follow-up data was collected for relevant parameters. Changes over time were then quantified once the treatment with S/V was initiated, and a statistical analysis was conducted to validate whether the changes were significant. Results: Of all HFP patients, 27 met the inclusion criteria, with an average age of 70 years and where 37.0% of them were at the target dose after an average follow- up of 16.4 months. Through the study it was possible to find a statistically significant difference in a change for the ejection fraction in 17 patients (p.0.016). In patients with available clinical data, it was observed that NT-proBNP improved by 68.75%, meanwhile the 6-minute walk improved by 77.8%. In addition, only 7.4% of patients worsened their NYHA functional scale, 3.7% were hospitalized and 7.4% died during the time. Conclusions: Based on the studied parameters and throughout all the clinical changes during the follow-up time, it was possible to establish an improvement in patients after the S/V therapy, which is also associated with a low hospitalization incidence and a low mortality rate.

Importancia del aluminio en la hemodiálisis crónica / Improtance of aluminum in chronic hemodialysis

A study is carried out of aluminum concentration in the water supply of the city of Montevideo and in the plasma of 86 patients with chroni renal failure, under periodic hemodialytic treatment with non-demineralized water. The determinations were performed by atomic absoption spectrophotometry with graphite furnace. The aluminum rates of the water supply were always high, with a 286 ug/l mean. All of the patients exhibited high aluminemia (a 102 ug/l mean), in relation with a control group of healthy persons unexposed to the hazard. The study of 18 patients following a period of 3 to 9 months of hemodialysis with demineralized water showed a statistically significant decrease of aluminemia. Stress is laid on the importance of using demineralized water in hemodialysis in order to prevent aluminum poisoning and its serious complications.

Tiempo biologico.Cronobiologia. / Biologic time. Chronobiology

La cronobiologia es una ciencia poco divulgada, requiere ser mas conocida para su explotacion. Se incursiona en la comprension del tiempo como factor biologico con la exposicion del "complejo espacio-tiempo" einsteniano, concepto relativo y el tiempo absoluto en la funcion vital.La introduccion del tiempo en la fisiologia y patologia es una categoria expresiva de su complejidad. Las contingencias de orden clinico elaboran conclusiones de aplicacion inmediata que favorecen una importante relacion preventiva y terapeutica. Una muestra es su utilizacion en la quimioterapia y radioterapia del cancer

Immunology of leprosy. Antigens derived from Mycobacterium leprae in oily suspension

Suspensions of Hansen bacilli in mineral oil, olive oil, and ethyl esters of chaulmoogra oil, killed by heating were injected intradermally in concentrations of 1:2500 for the chaulmoogra suspensions, of 1:5000 for the suspension in other oils, to establish their antigenic activity. A suspension of Eberth bacilli in oil was used as control. The three types of lepromin thus prepared provoked intense local reaction in twenty-four to forty-eight hours in all cases of leprosy, even in the lepromatous form. Later the oil provoked the formation of a tumor, to which was added in persons allergic to lepromin the specific nodular reaction which M.leprae provokes. The suspension of Eberth abcilli also provoked an early positive reaction, but this was less marked than the lepromin reaction. Controls injected with the three oil vehicles alone showed that these substances have little or no irritating effect. Some patients with lepromatous leprosy gave positive reaction to the ordinary lepromin a few months after injection with lepromin suspended in oil. It is concluded that the early reactions to oily lepromin are not specific. Evidently the antigenic properties of M. leprae are increased in an oily medium. This is attributable to the greter and more prolonger contact of the bacilli with the dermis, when oil preparations are injected because these do not diffuse as readily as aqueous suspensions.

Estudo clinico e histopatologico das reações alergicas na lepra. II.ª Parte - Investigações clinicas e histopatologicas sobre a reação espontanea da lepra tuberculoide - (reação leprosa tuberculoide)

Baseados em um material de mais de 200 biopsias que compreendem as distintas etapas da reação da lepra tuberculoide, estudamos na presente comunicação as alterações histopatologicas que caracterizam este processo, destacando suas manifestações tipicas, As reações novas perifocais que se instalam ao redor do fóco tubercoloide antigo, mostram o mesmo aspécto histologico que as lesões que se observam na pele anteriormente sã. São caracterisadas por um acentuado edema de pele, grande hiperemia, especialmente ao nivel do corpo papilar e por infiltrados de celulas redondas, difusas ou focais, em disposição perivascular, periglandular, perineural e perifolicular. Na intimidade destes infiltrados produz-se uma degeneração muito tipica do tecido conjuntivo a qual se observa preferencialmente na visinhança imediata dos vasos medianos (na adventicia destes) porem, além desta localisação, no tecido conjuntivo laxo e fibrilar do corpo papilar e corion. Esta degeneração do tecido conectivo aparece em forma fócal ou nodular com um particular edema mucoso chegando até a degeneração e necrose fibrinoide já descritas nas enfermidades alergicas, por Roessle, Gerlach, Klinge e outros. Estas alterações en suas fázes mais avançadas são acompanhadas de uma franca mobilisação de elementos hsitocitarios, chegando finalmente a uma completa organisação nodular a base de celulas epitelioides. Segundo nossas observações, o pequeno nodulo de celulas epitelioides, tipico da lepra tuberculoide, constitue a fáze final de uma reação tuberculoide. Nas alterações provocadas por reações novas, recentes, especialmente na etapa de degeneração mucusa e fibrinoide do tecido conectivo é possível por em evidencia nos focos (mediante o emprego da coloração pelo methodo de Ziehl) bastonetes acido-resistentes, os quais quasi sempre evidenciam alterações degenerativas francas (menor afinidade pelos corantes, des-integração granulosa e resolução em massas amorfas fracamente acido resistentes. Os foco antigos, ao contrario aqueles que no curso da sua evolução chegaram ao estado de pequenos nodulos...

The early reaction induced by lepromin / ?

The intradermal reaction to lepromin has been studied in a total of 563 persons, cases of leprosy and contacts. Observation of its clinical and histopathologic development has shown the following facts:a- In allergic cases intradermal injection of lepromin induces an "early" reaction which is well defined, both clinically and histologically, beginning a few hours after injection and reaching its maximum between 48 and 72 hours, thereafter decreasing until it disappears completely during the first week. b- This early reaction, which is manifested clinically by an erythematous halo, usually infiltrated, is not of nonspecific character since it has the histologic structure common to allergic reactions and is only seen in those cases which offer resistance to the infection (i.e., neural forms of the disease, particularly the tuberculoid form) and does not occur in cases which are considered anergic, as in the lepromatous type...