Frameshift Variant in ARID2 in a Chilean Individual with Coffin-Siris Syndrome Phenotype.

Coffin-Siris syndrome (CSS) is one of the several causes of intellectual disability (ID) and, since its first description, has posed diagnostic challenges given its variability and phenotypic overlap with other alterations of chromatin-remodeling-associated syndromes. It is genetically heterogeneous, and causative mutations are detected in less than 70% of cases. The different subtypes of the syndrome described to date are caused by mutations in genes that encode subunits of the SWI/SNF chromatin-remodeling complex, which plays an essential role in the regulation of gene expression during embryogenesis. Whole exome sequencing (WES) has allowed the identification of pathogenic mutations in these genes, including ARID2 . ARID2 is one of the primary components of the SWI/SNF complex and has been associated with ID and phenotypes similar to CSS for the first time in 2015. Fifteen published case reports have identified loss-of-function mutations, suggesting that the underlying pathogenic disease mechanism is haploinsufficiency of ARID2 . We herein presented the case of an 8-year-old Chilean girl with clinical suspicion of CSS, in whom a novel frameshift variant in ARID2 was identified by WES. She was the first reported case in Latin America to our knowledge and her phenotype displays the main clinical features suggestive of CSS described in other patients with ARID2 variants. However, she did not present behavioral abnormalities, a characteristic frequently reported in the majority of patients with ARID2 variants, and also had some features, such as sparse scalp hair, which is frequently reported as a manifestation of CSS, but is uncommon in this new group of patients.

Acidity of Isomorphic Substituted Zeolites with B, Al and Ga Revisited.

Isomorphic substitution of zeolites with B, Al and Ga is a widely used approach in catalysis. The experimentally reported trend of their acidities decreases in the order: Al>Ga>B. However, a consistent explanation is still lacking in the literature. To bring more understanding of this trend, density functional theory computations were conducted on several model systems. First, the acidity of small clusters with two (2T) and five (5T) tetrahedral sites was analyzed. These systems were then projected onto three large void structures: H-[A]-BEA (52T), H-[A]-FAU (84T) and H-[A]-MOR (112T) with A=B, Al, Ga. Our electron density and Interacting Quantum Atom analyses show that the acidity of Al zeolites originates from the much stronger O-Al bond, which is dominated by the electrostatic attraction. The bridging hydroxyl therefore donates more charge density to the metal, the proton becomes more positive and consequently more acidic. Ga zeolites are more acidic than B zeolites due to the greater covalent nature on the O-Ga bond. The resulting acidity, as seen by ammonia, depends on both the acidic oxygen and the charge distribution of the surrounding oxygens exerted by the substituents.

Unveiling the mechanisms of carboxylic acid esterification on acid zeolites for biomass-to-energy: A review of the catalytic process through experimental and computational studies.

In recent years, there has been significant interest from industrial and academic areas in the esterification of carboxylic acids catalyzed by acidic zeolites, as it represents a sustainable and economically viable approach to producing a wide range of high-value-added products. However, there is a lack of comprehensive reviews that address the intricate reaction mechanisms occurring at the catalyst interface at both the experimental and atomistic levels. Therefore, in this review, we provide an overview of the esterification reaction on acidic zeolites based on experimental and theoretical studies. The combination of infrared spectroscopy with atomistic calculations and experimental strategies using modulation excitation spectroscopy techniques combined with phase-sensitive detection is presented as an approach to detecting short-lived intermediates at the interface of zeolitic frameworks under realistic reaction conditions. To achieve this goal, this review has been divided into four sections: The first is a brief introduction highlighting the distinctive features of this review. The second addresses questions about the topology and activity of different zeolitic systems, since these properties are closely correlated in the esterification process. The third section deals with the mechanisms proposed in the literature. The fourth section presents advances in IR techniques and theoretical calculations that can be applied to gain new insights into reaction mechanisms. Finally, this review concludes with a subtle approach, highlighting the main aspects and perspectives of combining experimental and theoretical techniques to elucidate different reaction mechanisms in zeolitic systems.

Validation and adaptation of the Spanish version of the systemic lupus activity questionnaire (S-SLAQ) in an Argentinean population.

OBJECTIVES: To validate the systemic lupus activity questionnaire (SLAQ) in Spanish language. METHODS: The SLAQ questionnaire was translated and adapted in Spanish. Consecutive SLE patients from 8 centers in Argentina were included. A rheumatologist completed a Systemic Lupus Activity Measure (SLAM), Systemic Lupus Erythematosus Disease Activity Index (SLEDAI)-2K, and a physician's assessment. Reliability was assessed by internal consistency (Cronbach's alpha), stability by test-retest reliability (intraclass correlation coefficient), and construct validity by evaluating the correlation with clinically relevant scores. Sensitivity and specificity for clinically significant disease activity (SLEDAI ≥6) of different S-SLAQ cut-off points were evaluated. RESULTS: We included 97 patients ((93% female, mean age: 40 years (SD14.7)). Internal consistency was excellent (Cronbach's alpha = 0.84, p < 0.001), and the intraclass correlation coefficient was 0.95 (p < 0.001). Mean score of S-SLAQ was 8.2 (SD 7.31). Correlation of S-SLAQ was moderate with Patient NRS (r= 0.63 p< 0.001), weak with SLAM-no lab (r = 0.42, p <0.001) and SLAM (r = 0.38, p < 0.0001), and very weak with SLEDAI-2K (r = 0.15, p =0.1394). Using the S-SLAQ cutoff of five points, the sensitivity was 72.2% and specificity was 37.9%, for clinically significant disease activity. CONCLUSIONS: The S-SLAQ showed good validity and reliability. A good correlation, similar to the original instrument, was observed with patient´s global disease activity. No correlation was found between S-SLAQ and gold standard disease activity measures like SLEDAI-2K and SLAM. The S-SLAQ cutoff point of 5 showed a good sensitivity to identify the active SLE population and therefore could be an appropriate screening instrument for disease activity in clinical and epidemiological studies.

Evaluación de las necesidades educacionales de los pacientes con artritis reumatoide mediante el cuestionario SpENAT / Evaluation of the educational needs in Argentine patients with rheumatoid arthritis using the SpENAT questionnaire

INTRODUCCIÓN: El Educational Needs Assessment Tool-versión española (SpENAT) es un cuestionario autorreportado que evalúa las necesidades educacionales (NEd) con el fin de dar información adaptada y centrada en el paciente con artritis reumatoide (AR). Comprende 39 preguntas agrupadas en 7 dominios: Manejo del dolor, Movimiento, Sentimientos, Proceso de artritis, Tratamientos, Medidas de autoayuda y Sistemas de apoyo. OBJETIVOS: Evaluar las NEd en pacientes con AR mediante el SpENAT y determinar cuáles son las principales fuentes de información a las que consultan. MATERIAL Y MÉTODOS: Estudio multicéntrico, observacional, analítico, de corte transversal. Se incluyeron pacientes consecutivos≥18 años con diagnóstico de AR (ACR 87 y/o ACR-EULAR 2010). Se consignaron datos demográficos, nivel educativo, características de la enfermedad y medidas clinimétricas. Todos los pacientes completaron el SpENAT y fueron interrogados acerca de las fuentes a las que acuden para obtener información de su enfermedad. ANÁLISIS ESTADÍSTICO: Se describieron las características poblacionales. Se determinaron las NEd como porcentajes del puntaje máximo posible de cada dominio. Se compararon las necesidades por dominio según sexo, años de educación, tiempo de evolución, uso de biológico y capacidad funcional mediante test de Anova y las comparaciones de a pares con prueba t de Student y corrección de Bonferroni. Se determinó correlación entre los dominios con test de Spearman. Se comparó la edad según la fuente de información con la prueba t de Student. RESULTADOS: Se incluyeron 496 pacientes de 20 centros de todo el país. Se observaron mayores NEd en los dominios Movimiento, Sentimientos y Proceso de artritis. Los pacientes de mayor nivel educacional (>7 años) refirieron mayores NEd en los dominios Proceso de artritis y Medidas de autoayuda. Un mayor deterioro funcional (HAQ≥0,87) se asoció con unas mayores NEd en todos los dominios. Los pacientes con alta actividad mostraron mayores NEd que los pacientes en remisión en los dominios Manejo del dolor, Movimiento, Sentimientos, Tratamientos y Sistemas de apoyo, y que los pacientes con baja actividad en los dominios Medidas de autoayuda y Sistemas de apoyo. Todos los dominios del SpENAT mostraron correlaciones positivas entre sí (p < 0,0001), siendo las más importantes Manejo del dolor/Movimiento y Tratamientos/Proceso de artritis (r≥0,7). La fuente de información más consultada fue el reumatólogo (93,95%); quienes recurrían a Internet tenían una menor edad en promedio (p = 0,0004). CONCLUSIÓN: Los pacientes con AR manifestaron un gran interés por conocer más sobre su enfermedad. Un elevado deterioro funcional se asocia con mayores NEd. Los pacientes con alta actividad de la enfermedad presentan mayores NEd en casi todos los dominios. El médico reumatólogo es la principal fuente de información del paciente con AR

BACKGROUND: The SpENAT, a Spanish version of the Educational Needs Assessment Tool, is a self-completed questionnaire that assesses educational needs (ENs) with the purpose of providing tailored and patient-centered information. It consists of 39 questions grouped into the 7 following domains: Pain management, Movement, Feelings, Arthritic process, Treatments, Self-help measures and Support system. OBJECTIVES: The objective of the study was to describe the ENs of rheumatoid arthritis (RA) patients using the SpENAT and to determine the main sources of information consulted by these patients. MATERIAL AND METHODS: Multicenter, observational, cross-sectional study. We included consecutive patients≥18 years with diagnosis of RA (ACR 87/ACR-EULAR 2010). Sociodemographic data, disease characteristics and clinimetric properties were recorded. All patients completed the SpENAT and were asked about the sources employed to obtain information about their disease. STATISTICAL ANALYSIS: Population characteristics were described. ENs were determined as percentages of the highest possible score for each domain. Needs for each domain according to sex, years of education, disease duration, use of biologicals and functional capacity were analyzed by means of ANOVA, and bivariate comparisons were made with Student's t-test and the Bonferroni correction. Correlation between domains was determined with the Spearman correlation coefficient. We compared patients' age by source of information with Student's t-test. RESULTS: We included 496 patients from 20 centers across the country. More ENs were observed in the domains of Movement, Feelings and the Arthritic process. Patients with higher educational level (>7 years) reported more ENs in the Arthritic process and Self-help measure domains. A higher functional impairment (HAQ-A≥0.87) was associated with more ENs in every domain. Patients with high activity showed more ENs than those in remission in the domains of Pain management, Movement, Feelings, Treatments and Support system, as well as those with low activity in Self-help measures and Support system domains. All SpENAT domains showed positive correlations among each other (P<.0001), the most important being Pain management/Movement and Treatments/Arthritic process (r≥0.7). The source of information most frequently consulted was the rheumatologist (93.95%); those who made use of Internet were on average younger (P=.0004). CONCLUSION: RA patients were very interested about knowing more about their disease. High functional impairment was associated with more ENs. Patients with high disease activity had higher EN levels in almost every domain. The rheumatologist was the main source of information for the patient with RA

Evaluation of the Educational Needs in Argentine Patients with Rheumatoid Arthritis Using the SpENAT Questionnaire. / Evaluación de las necesidades educacionales de los pacientes con artritis reumatoide mediante el cuestionario SpENAT.

BACKGROUND: The SpENAT, a Spanish version of the Educational Needs Assessment Tool, is a self-completed questionnaire that assesses educational needs (ENs) with the purpose of providing tailored and patient-centered information. It consists of 39 questions grouped into the 7 following domains: Pain management, Movement, Feelings, Arthritic process, Treatments, Self-help measures and Support system. OBJECTIVES: The objective of the study was to describe the ENs of rheumatoid arthritis (RA) patients using the SpENAT and to determine the main sources of information consulted by these patients. MATERIAL AND METHODS: Multicenter, observational, cross-sectional study. We included consecutive patients≥18 years with diagnosis of RA (ACR 87/ACR-EULAR 2010). Sociodemographic data, disease characteristics and clinimetric properties were recorded. All patients completed the SpENAT and were asked about the sources employed to obtain information about their disease. STATISTICAL ANALYSIS: Population characteristics were described. ENs were determined as percentages of the highest possible score for each domain. Needs for each domain according to sex, years of education, disease duration, use of biologicals and functional capacity were analyzed by means of ANOVA, and bivariate comparisons were made with Student's t-test and the Bonferroni correction. Correlation between domains was determined with the Spearman correlation coefficient. We compared patients' age by source of information with Student's t-test. RESULTS: We included 496 patients from 20 centers across the country. More ENs were observed in the domains of Movement, Feelings and the Arthritic process. Patients with higher educational level (>7 years) reported more ENs in the Arthritic process and Self-help measure domains. A higher functional impairment (HAQ-A≥0.87) was associated with more ENs in every domain. Patients with high activity showed more ENs than those in remission in the domains of Pain management, Movement, Feelings, Treatments and Support system, as well as those with low activity in Self-help measures and Support system domains. All SpENAT domains showed positive correlations among each other (P<.0001), the most important being Pain management/Movement and Treatments/Arthritic process (r≥0.7). The source of information most frequently consulted was the rheumatologist (93.95%); those who made use of Internet were on average younger (P=.0004). CONCLUSION: RA patients were very interested about knowing more about their disease. High functional impairment was associated with more ENs. Patients with high disease activity had higher EN levels in almost every domain. The rheumatologist was the main source of information for the patient with RA.

Topological description of the bond-breaking and bond-forming processes of the alkene protonation reaction in zeolite chemistry: an AIM study.

Density functional theory and atoms in molecules theory were used to study bond breakage and bond formation in the trans-2-butene protonation reaction in an acidic zeolitic cluster. The progress of this reaction along the intrinsic reaction coordinate, in terms of several topological properties of relevant bond critical points and atomic properties of the key atoms involved in these concerted mechanisms, were analyzed in depth. At B3LYP/6-31++G(d,p)//B3LYP/6-31G(d,p) level, the results explained the electron density redistributions associated with the progressive bond breakage and bond formation of the reaction under study, as well as the profiles of the electronic flow between the different atomic basins involved in these electron reorganization processes. In addition, we found a useful set of topological indicators that are useful to show what is happening in each bond/atom involved in the reaction site as the reaction progresses.

Fractura expuesta de pierna con pérdida de la cobertura cutánea e infección por acinetobactrer calcoacéticus / Seriously exposed fracture with skin loss around the leg and acinetobacter calcoaceticus infection

Se presenta el caso de un paciente de 14 años de edad con traumatismo grave en miembro inferior izquierdo, pérdida de cobertura cutánea en forma circunferencial y fractura expuesta de tibia y peroné. Los cultivos-biopsia de hueso, músculo y celular subcutáneo demostraron infección por Acinetobacter Calcoaceticus. Se clasifica al germen. Se describe el tratamiento local y sistémico. El antibiograma demostró in vitro resistencia para todos los antibióticos probados, excepto para el Imipenem; a pesar de ésto el paciente presentó respuesta clínica favorable a la Ceftazidima. Los tópicos utilizados fueron: Iodopovidona e Hipoclorito de sodio diluido; no se observó en los controles clínicos ni en los monitoreos toxicidad cardíaca, renal ni hepática con los antisépticos utilizados, presentando un buen lecho de granulación, favorable para injertar. Se obtuvo la curación completa de las lesiones, con remisión de la infección y consolidación de las fracturas, sin signos de osteomielitis en un seguimiento de 18 meses

Fractura expuesta de pierna con pérdida de la cobertura cutánea e infección por acinetobactrer calcoacéticus / Seriously exposed fracture with skin loss around the leg and acinetobacter calcoaceticus infection

Se presenta el caso de un paciente de 14 años de edad con traumatismo grave en miembro inferior izquierdo, pérdida de cobertura cutánea en forma circunferencial y fractura expuesta de tibia y peroné. Los cultivos-biopsia de hueso, músculo y celular subcutáneo demostraron infección por Acinetobacter Calcoaceticus. Se clasifica al germen. Se describe el tratamiento local y sistémico. El antibiograma demostró in vitro resistencia para todos los antibióticos probados, excepto para el Imipenem; a pesar de ésto el paciente presentó respuesta clínica favorable a la Ceftazidima. Los tópicos utilizados fueron: Iodopovidona e Hipoclorito de sodio diluido; no se observó en los controles clínicos ni en los monitoreos toxicidad cardíaca, renal ni hepática con los antisépticos utilizados, presentando un buen lecho de granulación, favorable para injertar. Se obtuvo la curación completa de las lesiones, con remisión de la infección y consolidación de las fracturas, sin signos de osteomielitis en un seguimiento de 18 meses

Grupo de orientación para mujeres con disfunciones sexuales / Therapeutic group counseling for women with sexual dysfunctions

En el Servicio de Psiquiatría del Hospital del Salvador, Santiago, Chile, se realizó un estudio con pacientes derivadas al tratamiento por disfunciones sexuales. Los objetivos del estudio fueron conocer las características de la sexualidad de las mujeres consultantes y aplicar un método de tratamiento de grupo denominado "grupo de orientación y diagnóstico de disfunciones sexuales" que se enfoca hacia la educación sexual y la relación de pareja. Como factores determinantes de las disfunciones sexuales se destacan la falta de información; las relaciones sexuales sin participación psicológica de la mujer, y el desarollo sexual incompleto o traumático denominado por la inhibición y la represión. Las autoras señalan que el tratamiento de grupo es una buena oportunidad para que la mujer pueda descubrir y en algunos casos solucionar sus problemas de disfunciones sexuales, por medio de la descusión franca en un lenguaje propio del grupo social a que pertenece y en un ambiente receptivo que le permita plantear sus dudas y sus conflictos

Grupo de orientación terapéutica para mujeres con disfunciones sexuales / Therapeutic group counseling for women with sexual dysfunctions

A study of female patients referred for treatment of sexual dysfunctions was conducted in the Psychiatric Ward of Salvador Hospital, Santiago, Chile. Its purposes were determine the characteristics of the participants' sexuality and to apply a group treatment method known as "sexual dysfunction diagnosis and counceling group" geared to education in sexual matters and relations between partners. Salient determinants of sexual dysfunctions are lack of information, sexual relations without the psychological involvement of the woman, and incomplete or traumatic sexual development dominated by inhibition and repression. The authors note that group therapy offers women a good opportunity to discover and in some cases to solve their sexual dysfunction problems through candid discussions in the ordinary language of their social group. in a receptive environment where they can comfortably express their doubts and conflicts

Pre-eclampsia: desprendimiento normoplacentario y desprendimiento de retina / Pre-eclampsia: normal placenta rupture and retinal detachment

Se presentan dos casos de pre-eclampsia seguidos de desprendimiento prematuro de placenta y posterior desprendimiento bilateral de retina. Se hace resaltar que la recuperación fue completa en la media que mejoraba el cuadro general de la paciente, no requiriendo otro tratamiento que el meramente medicamentoso. Se destaca la importancia del examen en equipo en este tipo de paciente, no emitiendo el fondo de ojo, como prueba de rutina (AU)

Pre-eclampsia: desprendimiento normoplacentario y desprendimiento de retina / Pre-eclampsia: normal placenta rupture and retinal detachment

Se presentan dos casos de pre-eclampsia seguidos de desprendimiento prematuro de placenta y posterior desprendimiento bilateral de retina. Se hace resaltar que la recuperación fue completa en la media que mejoraba el cuadro general de la paciente, no requiriendo otro tratamiento que el meramente medicamentoso. Se destaca la importancia del examen en equipo en este tipo de paciente, no emitiendo el fondo de ojo, como prueba de rutina