[Alagille syndrome associated to JAG1 gene deletion. An unusual etiology]. / Síndrome de Alagille por deleción del gen JAG1. Una causa poco frecuente.

Alagille syndrome (ALGS) is an autosomal dominant, multisystem disorder that typically presents with cholestasis, cardiac, ocular, skeletal, vascular and renal abnormalities, and distinct facial features. Most cases are due to variants in the JAG1 gene, with only a small percentage involving a complete gene deletion. OBJECTIVE: to contribute to the phenotype delineation and interpretation of a microdeletion not previously described in the literature on chromosome 20. CLINICAL CASE: A 4-month-old female patient was diagnosed with a heart murmur. An echocardiogram revealed pulmonary artery stenosis, which, combined with a prominent forehead observed on physical examination, determined her referral to clinical genetics. Because ALGS was suspected, complementary studies were performed, revealing butterfly vertebras and a genetic panel identified a pathogenic heterozygous deletion, encompassing the entire coding sequence of the JAG1 gene. To rule out a more extensive deletion, a chromosome microarray was performed, confirming a pathogenic microdeletion on chromosome 20 of 378 kb (arr[GRCh37] 20p12.2(10414643_10792802)x1). CONCLUSIONS: A targeted sequencing panel followed by confirmation with a chromosome microarray allowed the identification and delineation of a pathogenic microdeletion not previously reported in the literature, including the complete JAG1 gene in a Chilean patient whose phenotype is consistent with ALGS.

El desarrollo atípico del lenguaje en niños con discapacidad auditiva. ¿Posible tdl? / Atypical language development in children with hearing disabilities. Possible tdl?

Introducción: El avance de la ciencia ha permitido que los niños con discapacidad auditiva (DA) dispongan de ayudas necesarias y desarrollen una competencia comunicativo-lingüística acorde a su edad cronológica, pero existe un determinado porcentaje de estos niños con un desarrollo atípico del lenguaje. Objetivos: La finalidad de este trabajo es comprobar si el desarrollo atípico del lenguaje de niños con DA es o no una consecuencia de dicha pérdida de audición. Para ello, se evaluó en dos ocasiones el lenguaje de 12 niños con DA y, de ellos, 3 casos obtuvieron unos resultados lingüísticos que no correspondían a lo esperado por su edad cronológica, por lo que se pretende comprobar si son susceptibles de tener un déficit lingüístico no asociado al auditivo. Metodología: Se sigue una metodología mixta, se analiza de forma cualitativa y cuantitativa los resultados de diversas pruebas del lenguaje aplicadas en la reevaluación: PLON-R, BLOC-SR, PEABODY y Evaluación fonológica del habla Infantil. Los resultados se comparan con los obtenidos en la evaluación anterior y en otros estudios. Se contrastan hipótesis formuladas anteriormente discutiendo la posibilidad de un diagnóstico doble de discapacidad auditiva y un Trastorno del Desarrollo del Lenguaje (TDL). Resultados: El análisis de los resultados refleja que las puntuaciones obtenidas en la primera evaluación corresponden a las de la segunda; las puntuaciones siguen siendo bajas, evidenciándose dificultades en la morfosintaxis y en el desarrollo y uso del repertorio fonológico. Discusión y conclusiones: El porcentaje de niños con DA que no alcanzan una competencia comunicativo-lingüística acorde a su edad puede alcanzar el 30%. Los tres casos analizados presentan trastorno fonológico-sintáctico y agnosia auditivo-verbal, características compatibles a las de varios tipos de TDL...(AU)

Glycemic variability in diagnosis of gestational diabetes as predictor of pharmacological treatment.

INTRODUCTION: To establish whether glycemic variability (GV) parameters used when gestational diabetes mellitus (GDM) has been diagnosed could help predict the probability that a patient will need pharmacological treatment, and to analyze the link of these parameters to the development of maternal-fetal complications. MATERIALS AND METHODS: A prospective study of 87 women with GDM who underwent retrospective continuous glucose monitoring (CGM) for six days between weeks 26 and 32 of gestation, following diagnosis. The mean glycemia levels and GV variables were analyzed together with their link to maternal-fetal complications, and the need for pharmacological treatment. ROC (receiver operating characteristic) curves were developed to determine validity to detect the need for pharmacological treatment. RESULTS: Patients with higher mean glycemia (p < 0.001) and continuous overlapping of net glycemic action in a period of n-hours (CONGAn) (p = 0.001) required pharmacological treatment. The ROC curves showed cut-off points of 98.81 mg/dL for mean glycemia, and 86.70 mg/dL for CONGAn, with 83.3% sensitivity and 67.8% specificity for both parameters. No relation between the GV parameters and development of maternal-fetal complications was observed. CONCLUSIONS: The use of CGM, once GDM is diagnosed, enables us to identify those patients who would benefit from closer monitoring during gestation, and facilitate a speedier take-up of pharmacological treatment. However, prospective studies involving a higher number of patients are needed, as well as a cost assessment for recommending the use of CGM following GDM diagnosis.

Real-World Evidence of Off-Label Use of Commercially Automated Insulin Delivery Systems Compared to Multiple Daily Insulin Injections in Pregnancies Complicated by Type 1 Diabetes.

Aims: To compare glycemic control and maternal-fetal outcomes of women with type 1 diabetes (T1D) using hybrid closed loop (HCL) versus multiple daily insulin injections (MDI) plus continuous glucose monitoring. Methods: Multicenter prospective cohort study of pregnant women with T1D in Spain. We evaluated HbA1c and time spent within (TIR), below (TBR), and above (TAR) the pregnancy-specific glucose range of 3.5-7.8 mmol/L. Adjusted models were performed for adverse pregnancy outcomes, including baseline maternal characteristics and center. Results: One hundred twelve women were included (HCL n = 59). Women in the HCL group had a longer duration of diabetes and higher rates of prepregnancy care. There was no between-group difference in HbA1c in any trimester. However, in the second trimester, MDI users had a greater decrease in HbA1c (-6.12 ± 9.06 vs. -2.16 ± 7.42 mmol/mol, P = 0.031). No difference in TIR (3.5-7.8 mmol/L) and TAR was observed between HCL and MDI users, but with a higher total insulin dose in the second trimester [+0.13 IU/kg·day)]. HCL therapy was associated with increased maternal weight gain during pregnancy (ßadjusted = 3.20 kg, 95% confidence interval [CI] 0.90-5.50). Regarding neonatal outcomes, newborns of HCL users were more likely to have higher birthweight (ßadjusted = 279.0 g, 95% CI 39.5-518.5) and macrosomia (ORadjusted = 3.18, 95% CI 1.05-9.67) compared to MDI users. These associations disappeared when maternal weight gain or third trimester HbA1c was included in the models. Conclusions: In a real-world setting, HCL users gained more weight during pregnancy and had larger newborns than MDI users, while achieving similar glycemic control in terms of HbA1c and TIR.

The Phenotypic Spectrum of Spinocerebellar Ataxia Type 19 in a Series of Latin American Patients.

Spinocerebellar ataxia 19 (SCA19) represents a rare autosomal dominant genetic disorder resulting in progressive ataxia and cerebellar atrophy. SCA19 is caused by variants in the KCND3 gene, which encodes a voltage-gated potassium channel subunit essential for cerebellar Purkinje cell function. We describe six cases from Chile and Mexico, representing the largest report on SCA19 in Latin America. These cases encompass a range of clinical presentations, highlighting the phenotypic variability within SCA19 from an early-onset, severe disease to a late-onset, slowly progressive condition with normal lifespan. While some patients present with pure ataxia, others also show cognitive impairment, dystonia, and other neurological symptoms. The correlations between specific KCND3 variants and phenotypic outcomes are complex and warrant further investigation. As the genomic landscape of spinocerebellar ataxias evolves, comprehensive genetic testing is becoming pivotal in improving diagnostic accuracy. This study contributes to a better understanding of the clinical spectrum of SCA19, laying the groundwork for further genotype-phenotype correlations and functional studies to elucidate the underlying pathophysiology.

Logopedia en el ámbito judicial: facilitadores de la comunicación / Speech therapy in the judicial field: communication facilitators

Introducción: Las dificultades en el lenguaje oral y/o escrito suponen una barrera para el acceso a la justicia en igualdad de condiciones; sin embargo, no ha sido hasta el año 2021 cuando se ha visto la imperiosa necesidad de dar una solución ante dicha quiebra del principio constitucional, por lo que aparece la figura del facilitador de la comunicación. Desarrollo: El propósito de esta comunicación es reivindicar la función del logopeda como facilitador en el Sistema Judicial, relacionando las competencias que debe tener un facilitador con las que posee un logopeda.Para llevarlo a cabo, se realiza una revisión de las necesidades que han motivado el surgimiento de esta figura; se analiza también una serie de sentencias que justifican que sea el logopeda quien desempeñe esta función.En el poco tiempo transcurrido desde que se ha iniciado el proceso de aperturadel sistema judicial hacia la diversidad, atendiendo las necesidades comunicativas de las personas con discapacidad, actualmente, existen algunas sentencias que disponen en su propio texto ser redactadas en Lectura Fácil, como medida de adaptación para las personas que presentan dificultades en la compresión lectora. Conclusiones: De esta manera, el facilitador se convierte en una figura imprescindible en el Sistema Judicial. La implementación del facilitador es un proceso aún en desarrollo, por lo que el mismo Consejo General de Colegios de Logopedas propugna el reconocimiento del logopeda como profesional preparado para ejercer este cargo. Además, instituye la Comisión de Facilitadores de la Comunicación, órgano que proporciona ya un facilitador al tiempo que define una serie de fases para que este profesional lleve a cabo su actuación. Durante estos tres últimos años se ha avanzado mucho en ello y se están poniendo los cimientos para paliar una de las grandes trabas de las personas con dificultades comunicativas...(AU)

[Rett Syndrome: an updated view]. / Síndrome de Rett, una mirada actual.

Rett syndrome (RS) is a rare neurodevelopmental disorder first described in 1966. It is characterized by the arrest and regression of intellectual, motor, and communicative developmental milestones, followed by the appearance of hand stereotypies after an apparently normal development period. Pathogenic variants in the MECP2 gene have been identified as a cause in most cases. The following review focuses on analyzing updated information regarding the medical and social aspects of RS globally, with a special emphasis of the situation in Chile. A multiple database search for updated information on RS was performed, selecting 68 articles published between 1995 and 2022, 56 on medical aspects, 11 on social aspects, and 1 on both. Additionally, information regarding certain social aspects was collected from government websites. Regarding medical aspects, the review focuses on RS' clinical features, diagnosis and classification, genetics, pathophysiology, and management. In relation to social aspects, the review presents the psychic and emotional stress that RS can cause on affected families based on international studies and, lastly, the opportunities and tools available to Chilean patients. RS is a complex disorder affecting multiple organ systems. Its management requires a multidisciplinary approach, having an important psychological and socioeconomic impact on the family. In Chile, Laws N° 20,422 and 21,292, the National Disability Service, and the creation of the "Caminamos por Ellas y Ellos" (We Walk for Them) foundation are positive milestones met in the journey of supporting these families.

PEMT variants are associated with nonsyndromic cleft lip with or without cleft palate in Chile.

Aim: To assess the association between PEMT variants and nonsyndromic cleft lip with or without cleft palate in Chile and the effects of these variants on global DNA methylation. Subjects & methods: The authors obtained genotypes for nine variants from 247 cases and 453 controls for genotype-phenotype associations. The effect of significant polymorphisms on global DNA methylation (percentage of long interspersed element-1 methylation) was evaluated in a subsample of 95 controls. Results: After multiple comparison corrections, variants rs7649 and rs4646409 were associated with nonsyndromic cleft lip with or without cleft palate. Carriers of risk alleles presented lower DNA methylation levels than noncarriers. Conclusion: According to functional analysis for risk variants from previous reports, the authors infer that a decrease of methyl group availability is occurring in affected subjects.

This study evaluated if variants in the gene named PEMT confers an increased risk for nonsyndromic cleft lip with or without cleft palate in Chile and its possible effects on methylation of DNA, a variable linked to gene expression modulation. The study found that the variants recognized as rs7649 and rs4646409 increase the risk of nonsyndromic cleft lip with or without cleft palate in the Chilean population and decrease DNA methylation. The authors conclude that this gene may be involved in this birth defect. New studies are needed to confirm the relation between this condition and DNA methylation mediated by these genetic variants.

Vitamin B12 Transport Genes and Nonsyndromic Cleft Lip With or Without Cleft Palate in Chile.

The aims of this study were to assess the association between polymorphisms within genes involved in vitamin B12 transport and nonsyndromic cleft lip with or without cleft palate (NSCL/P) and global DNA methylation in Chile. From 247 cases and 453 controls, we obtained variant genotypes for CBLIF, CUBN, AMN, ABCC1, CD320, and TCN2 from a single nucleotide polymorphisms array. Global DNA methylation in 95 controls was obtained through LINE-1 methylation. After multiple comparison corrections, only rs780807 in CUBN remains associated with NSCL/P at dominant model (OR 0.564, p-value = 0.0006, q-value = 0.0450). Carriers of protective allele showed lower levels of DNA methylation than non-carriers (p = 0.0259). Further studies are necessary in order to explain relations with the phenotype and DNA methylation due to the absence of functional evidence for rs780807 in CUBN.

Neural tube defects prevalence does not increase after modification of the folic acid fortification program in Chile.

BACKGROUND: In 2000, Chile's Ministry of Health mandated fortification of wheat flour with folic acid at a concentration of 2.2 mg/kg to prevent neural tube defects (NTDs), resulting in a 50% reduction in NTD prevalence. Concerns about possible collateral effects of high folic acid intake led, in 2009, to decrease the folic acid fortification to 1.8 mg/kg of flour. Our study evaluated the impact of this modification on the prevalence of NTDs in Santiago. METHODS: This study measured the prevalence of NTDs in live births and stillbirths born in Santiago. We calculated prevalence ratios (PR) and 95% confidence intervals (CI) between pre-folic acid fortification (1999-2000), post-folic acid fortification (2001-2009), and post-modified folic acid fortification (2010-2015) periods for all NTDs and their specific types. We used chi-square tests to analyze proportions, and a Joinpoint regression to visualize prevalence time trends. RESULTS: The NTD prevalence for the period 2001-2015 was 8.9 per 10,000 births, which represents a 48% reduction (PR = 0.52; 95% CI = 0.45-0.61; p < .001) from the pre-folic acid fortification period. During 2010-2015, the NTD prevalence was 9.5/10,000 births, which was higher, but not statistically significantly different from 2001 to 2009 prevalence of 8.6/10,000 (PR = 1.11; 95% CI = 0.96-1.30, p = .17). CONCLUSIONS: Decreasing the concentration of folic acid fortification was not associated with a statistically significant change in the prevalence of NTDs. Mandatory folic acid fortification continues to be a safe and highly effective policy to prevent NTDs. Future studies should evaluate the prevalence of NTDs across Chile and adherence to folic acid fortification mandates.

Prevalence of microcephaly: the Latin American Network of Congenital Malformations 2010-2017.

Objective: The Latin American Network of Congenital Malformations: ReLAMC was established in 2017 to provide accurate congenital anomaly surveillance. This study used data from ReLAMC registries to quantify the prevalence of microcephaly from 2010 to 2017 (before, during and after the Zika virus epidemic). Design: Nine ReLAMC congenital anomaly registries provided case-level data or aggregate data for any live births, still births or terminations of pregnancy with microcephaly. Births to pregnant women infected with Zika virus first occurred in Brazil in 2015, and in the remaining registry areas in 2016 with the exception of Chile that did not experience Zika virus. Therefore the prevalence of microcephaly for 2010-2014 and individual years 2015, 2016 and 2017 was estimated using multilevel random effect Poisson models. Clinical classification and characteristics of the cases were compared pre and post Zika for all centres providing individual case-level data. Results: The prevalence of microcephaly for all registries excluding Brazil was 2.3 per 10 000 (95% CI 2.0 to 2.6) for 2010-2014 rising to 5.4 (95% CI 4.8 to 6.0) in 2016 and 5.9 (95% CI 5.3 to 6.6) in 2017. Brazil had a prevalence of 0.6 per 10 000 (95% CI 0.5 to 0.6) in 2010-2014, rising to 5.8 (95% CI 5.6 to 6.1) in 2015, 8.0 (95% CI 7.6 to 8.3) in 2016 and then falling in 2017. Only 29 out of 687 cases of microcephaly were reported as congenital Zika syndrome in countries excluding Brazil. Conclusions: The prevalence of microcephaly was influenced both by Zika causing congenital Zika syndrome and by increased reporting awareness.

Aproximación metodológica de la competencia en lectura y escritura en jóvenes con discapacidad auditiva / Methodological approach to reading and writing competence in young people with hearing disabilities

En el marco de un proyecto de investigación sobre discapacidad auditiva (DA) (Grupo Serendipia de la Universidad de Valladolid), se abre una nueva línea de estudio sobre lecto-escritura. La DA afecta al desarrollo del lenguaje oral y escrito y a la discriminación auditiva. En este trabajo mostraremos la metodología seguida en esta investigación sobre el nivel de lectura y escritura en jóvenes con discapacidad auditiva (DA). Objetivo: analizar la pertinencia de la metodología llevada a cabo en esta investigación para conocer cómo es la adquisición, cómo se desarrolla y qué niveles llegan a obtener los jóvenes con DA que, gracias a los dispositivos auditivos, llegan hasta los estudios universitarios. Metodología: es cualitativa y descriptiva del procedimiento seguido en la investigación, se analizan los diferentes factores que puedan influir en el resultado del estudio. La muestra está compuesta de 22 jóvenes con DA que quieren conocer su nivel de competencia en lecto-escritura. Se han adaptado dos documentos, el consentimiento informado y un cuestionario con datos muy variados que nos permitan conocer tanto el ámbito escolar y logopédico del joven, como sus impresiones en relación a cómo considera que ha sido el desarrollo de su lectura y su escritura. Se les han aplicado las pruebas de evaluación de lectura y de escritura: PROLEC-SE-R, PROESC y PEALE, anotando en una hoja de registro de incidencias las dificultades encontradas durante la aplicación de las pruebas por cada caso.(AU)

Situación de la logopedia en la provincia de Soria: visión profesional y social / Situation of speech therapy in the province of Soria: professional and social vision

Introducción: El presente trabajo desarrolla un análisis en profundidad de la situación real de la logopedia en la provincia de Soria desde diferentes puntos de vista. En primer lugar, es necesario conocer el momento demográfico que vive la provincia, y que juega un papel muy importante en el desarrollo de servicios, como el de la logopedia, que, como profesión joven, aún lucha por hacerse un hueco en los diferentes ámbitos que abarcan su campo de actuación.Objetivos: El objetivo que persigue este trabajo es exponer el progreso y la realidad que vive la profesión en pequeños territorios, caracterizados por la falta de recursos sociales e institucionales.Metodología: Se ha realizado una revisión bibliográfica y un estudio social a través de 19 cuestionarios cumplimentados por logopedas, familiares y pacientes que forman parte de este servicio en la provincia de Soria.Resultados: Como resultado de este estudio, se han obtenido los datos sobre la presencia del logopeda en todos los servicios de la provincia en los que tiene cabida este profesional, así como en comparación con otras provincias de Castilla y León, como son Segovia y Valladolid, revelando datos interesantes sobre la falta de la presencia de este profesional en la provincia de Soria, sobre todo en el ámbito público. Asimismo, los cuestionarios ponen de manifiesto las dificultades de la población para acudir a rehabilitación logopédica y la multitud de ámbitos en los que trabajan los profesionales de esta provincia para poder cubrir las necesidades existentes.(AU)

Executive summary: Position document: Evaluation and management of hypoglycemia in the patient with diabetes mellitus 2020. Diabetes Mellitus Working Group of the Spanish Society of Endocrinology and Nutrition.

OBJECTIVE: To provide practical recommendations for the evaluation and management of hypoglycemia in patients with diabetes mellitus. PARTICIPANTS: Members of the Diabetes Mellitus Working Group of the Spanish Society of Endocrinology and Nutrition (SEEN). METHODS: The recommendations were made based on the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) system to establish both the strength of the recommendations and the level of evidence. A systematic search was made in MEDLINE (PubMed) for the available evidence on each subject, and articles written in English and Spanish with an inclusion date up to 30 November 2019 were reviewed. This executive summary takes account of the evidence incorporated since 2013. CONCLUSIONS: The document establishes practical evidence-based recommendations regarding the evaluation and management of hypoglycemia in patients with diabetes mellitus.

Maternal genotypes of folate/one-carbon metabolism gene variants and nonsyndromic cleft lip with or without cleft palate risk in Chile.

The aim of this study was to evaluate, in a case-control design, the association between maternal genotypes for variants in 23 genes involved in folate/one-carbon metabolism and nonsyndromic cleft lip with or without cleft palate (NSCL/P) in a Chilean population. After applying several filters to an Illumina array, we extracted 175 single nucleotide polymorphisms (SNPs) from 150 mothers of NSCL/P cases and 150 control women. Association was evaluated using computed odds ratio (OR) with a 95% confidence interval (95% CI) in additive, recessive, and dominant models. After multiple comparison correction, only SNP rs4451422 (A>C), located 237 bp downstream of the gene encoding the human folylpolyglutamate synthetase (FPGS), maintained a significant association with NSCL/P in the offspring (OR 3.03; 95% CI 1.69-5.26). The variant rs4451422 is associated with a decrease in FPGS expression according to database annotation. Our results lead to a new hypothesis that a lower activity of FPGS enzyme reduces intracellular folate levels and increases the risk of an offspring having NSCL/P.

[Consensus of the Genetics Branch of the Chilean Society of Pediatrics on the prioritization of people with Down syndrome and rare diseases for vaccination against SARS-CoV-2]. / Consenso de la Rama de Genética de la Sociedad Chilena de Pediatría sobre priorización de personas con Síndrome de Down y otras condiciones poco frecuentes en la Campaña de Vacunación COVID-19.

In the framework of the vaccination campaign against the SARS-CoV-2 virus, the Chilean Ministry of Health requested advice from the Genetics Branch of the Chilean Society of Pediatrics, to define the level of prioritization for people with Down Syndrome . A panel of geneticists worked on the development of this consensus, in which not only patients with Down syndrome were included, but the search was extended to patients with other types of disabilities, in both pediatric and adult ages in or der to contribute to the development of public health measures against the COVID-19 pandemic. The consensus concludes that, given the prevalence of comorbidities associated with Down syndrome, the higher incidence of cases with severe COVID-19 in this population group and a higher mortality, individuals with trisomy 21 should be considered as a high-risk population, and therefore, vaccina tion against SARS-CoV-2 should have a high priority for all people with Down syndrome regardless of their age (except for the age limit established by the clinical trials of each vaccine), and should be preceded only by the groups of health personnel and adults aged > 60-65 years. Likewise, this group of experts urges health authorities to include people with intellectual disabilities and related conditions as a priority population (other chromosomal abnormalities other than Down syndrome, intellectual disability, congenital anomalies and conditions that cause disability with microcephaly), as well as the caregivers of people with this type of conditions. Vaccination in children with this type of disorders should be considered as part of the first priority group, once safe vaccines against SARS-CoV-2 are available for use in children and adolescents.

Impacto de la hipoacusia unilateral en el desarrollo del lenguaje / Impact of unilateral hearing loss on language development

Antecedentes y objetivo: Aunque aparentemente la hipoacusia unilateral (HU) pase desapercibida, desde hace 40 años sabemos que su presencia puede ocasionar problemas académicos y comportamentales. Dada la escasez de trabajos publicados y la variabilidad de resultados, nos proponemos conocer su impacto realizando un estudio formal del lenguaje en niños con HU, analizando los posibles factores predisponentes y complementando los resultados con la opinión de sus padres. Material y métodos: Seleccionamos 16 niños de 3 a 15 años, diagnosticados precozmente de HU prelocutiva, de tipo y grado variables, aplicándoles las pruebas de lenguaje: «EMLE», «EDAF», «PLON-R/BLOC-SR» y «Evaluación fonológica del habla infantil de Laura Bosch». Así mismo, obtuvimos la opinión de los padres sobre las repercusiones observadas en el desarrollo lingüístico de sus hijos con HU, a través de un cuestionario específico. Resultados: Con independencia del oído afecto y del grado y tipo de pérdida auditiva, el desarrollo global del lenguaje muestra un rango normal, mejorando con la edad y en posible dependencia con el nivel socioeducativo de la familia. Las alteraciones se producen en morfosintaxis. En la HU profunda, las puntuaciones en fonología y en lecto-escritura son inferiores al resto. Las respuestas al cuestionario parental indican una mayor necesidad de apoyos educativos y logopédicos y la presencia de cambios en el comportamiento escolar. Conclusiones: Solo hemos detectado algunas alteraciones en el lenguaje de estos niños con HU, comprobando la escasa importancia que dan los padres a esta deficiencia. Aunque los resultados no nos permiten determinar el impacto que la HU tendrá en el desarrollo evolutivo de un niño en concreto, consideramos fundamental para su prevención, ofrecer información sobre las posibles consecuencias y procurar detectar precozmente cualquier alteración a través de un seguimiento cercano, logopédico y auditivo.(AU)

Background and objective: Even if apparently unilateral hearing loss (UHL) goes unnoticed, it has been known for 40 years that its presence leads to academic and behavioural problems. Due to the shortage of published studies and the variability of the results, our purpose is to evaluate the impact of this condition by making a formal study of language in children with UHL, analysing predisposing factors and including the parents’ point of view. Methods: A group of 16 children between 3 to 15 years old were selected; all had an early diagnosis of prelingual UHL, with a variability in grade and type. Several language tests have been applied: “EMLE”, “EDAF”, “PLON-R/BLOC-SR” and “Evaluación Fonológica del habla infantil” (Laura Bosch). In addition, we obtained the parents’ opinion about the impact on their children's language development with UHL, through an ad hoc questionnaire. Results: Regardless of the impaired ear, the grade and type of UHL, the global development of language showed a normal range, which improved with age and possibly depends on the socio-educational level of the family. The main alterations were found in morphosyntax. In profound UHL, the outcome in the phonological registry and in reading and writing are lower than in the other categories. According to the parental questionnaire responses, more educational and speech language support is required and some behavioural changes were also detected, mostly at school. Conclusions: Only a few language alterations were detected; we realize that parents do not attach much importance to this deficit. Although the impact of UHL on the development of a specific child cannot be determined, for prevention information is essential on possible consequences, as well as early detection of any variation through close monitoring, speech and hearing therapy.(AU)

Executive summary: Position document: Evaluation and management of hypoglycemia in the patient with diabetes mellitus 2020. Diabetes Mellitus Working Group of the Spanish Society of Endocrinology and Nutrition. / Resumen ejecutivo: Documento de posicionamiento: evaluación y manejo de la hipoglucemia en el paciente con diabetes mellitus 2020. Grupo de Trabajo de Diabetes Mellitus de la Sociedad Española de Endocrinología y Nutrición.

OBJECTIVE: To provide practical recommendations for the evaluation and management of hypoglycemia in patients with diabetes mellitus. PARTICIPANTS: Members of the Diabetes Mellitus Working Group of the Spanish Society of Endocrinology and Nutrition (SEEN). METHODS: The recommendations were made based on the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) system to establish both the strength of the recommendations and the level of evidence. A systematic search was made in MEDLINE (PubMed) for the available evidence on each subject, and articles written in English and Spanish with an inclusion date up to 28 February 2020 were reviewed. This executive summary takes account of the evidence incorporated since 2013. CONCLUSIONS: The document establishes practical evidence-based recommendations regarding the evaluation and management of hypoglycemia in patients with diabetes mellitus.

Genetic variants in S-adenosyl-methionine synthesis pathway and nonsyndromic cleft lip with or without cleft palate in Chile.

BACKGROUND: The S-adenosyl-methionine (SAM) availability is crucial for DNA methylation, an epigenetic mechanism involved in nonsyndromic cleft lip with or without cleft palate (NSCL/P) expression. The aim of this study was to assess the association between single-nucleotide polymorphisms (SNPs) of genes involved in SAM synthesis and NSCL/P in a Chilean population. METHODS: In 234 cases and 309 controls, 18 SNPs in AHCY, MTR, MTRR, and MAT2A were genotyped, and the association between them and the phenotype was evaluated based on additive (allele), dominant, recessive and haplotype models, by odds ratio (OR) computing. RESULTS: Three deep intronic SNPs of MTR showed a protective effect on NSCL/P expression: rs10925239 (OR 0.68; p = 0.0032; q = 0.0192), rs10925254 (OR 0.66; p = 0.0018; q = 0.0162), and rs3768142 (OR 0.66; p = 0.0015; q = 0.0162). Annotations in expression database demonstrate that the protective allele of the three SNPs is associated with a reduction of MTR expression summed to the prediction by bioinformatic tools of its potentiality to modify splicing sites. CONCLUSIONS: The protective effect against NSCL/P of these intronic MTR SNPs seems to be related to a decrease in MTR enzyme expression, modulating the SAM availability for proper substrate methylation. However, functional analyses are necessary to confirm our findings. IMPACT: SAM synthesis pathway genetic variants are factors associated to NSCL/P. This article adds new evidence for folate related genes in NSCL/P in Chile. Its impact is to contribute with potential new markers for genetic counseling.