Clinical and Genetic Characterization of a Cohort of Small-for-Gestational-Age Patients: Cost-Effectiveness of Whole-Exome Sequencing and Effectiveness of Treatment with GH.

Background/Objectives: Develop a clinical and genetic characterization, in a group of small-for-gestational-age (SGA) patients who did not experience catch-up growth Methods: In an ambispective cohort study with (SGA) patients. These patients received one treatment with growth hormone (GH) over 14 years. This study analyzes their response to treatment and conducts a genetic analysis in order to identify cases with specific phenotypic and auxological characteristics, defined as presenting two or more dysmorphic traits and/or a stature below -3 SDS (standard deviation score). Whole-exome sequencing (WES) was performed on selected patients. Results: Forty-four SGA patients were examined, with an average age of 6.4 (2.49) years and an initial size of -3.3 SDS. The pubertal growth was 24.1 (5.2) cm in boys and 14.7 (4.3) cm in girls. WES in 11 SGA patients revealed conclusive genetic variants in eight, including two pathogenic ACAN variants, one 15q26.2-q26.3 deletion, and four variants of uncertain significance in other genes. Conclusions: Treatment with GH in SGA patients was shown to be effective, with a similar response in the group with positive genetic results and in the group who did not undergo a genetic study. Genetic testing based on auxological and clinical criteria proved highly cost-effective.

EXO1-mediated DNA repair by single-strand annealing is essential for BRCA1-deficient cells.

Deficiency for the repair of DNA double-strand breaks (DSBs) via homologous recombination (HR) leads to chromosomal instability and diseases such as cancer. Yet, defective HR also results in vulnerabilities that can be exploited for targeted therapy. Here, we identify such a vulnerability and show that BRCA1-deficient cells are dependent on the long-range end-resection factor EXO1 for survival. EXO1 loss results in DNA replication-induced lesions decorated by poly(ADP-ribose)-chains. In cells that lack both BRCA1 and EXO1, this is accompanied by unresolved DSBs due to impaired single-strand annealing (SSA), a DSB repair process that requires the activity of both proteins. In contrast, BRCA2-deficient cells have increased SSA, also in the absence of EXO1, and hence are not dependent on EXO1 for survival. In agreement with our mechanistic data, BRCA1-mutated tumours have elevated EXO1 expression and contain more genomic signatures of SSA compared to BRCA1-proficient tumours. Collectively, our data indicate that EXO1 is a promising novel target for treatment of BRCA1-deficient tumours.

Anemia grave secundaria a sangrado vaginal en niña de 13 años que rechaza transfusión sanguínea / Severe anemia secondary to vaginal bleeding in a 13-year old girl who rejects blood transfusion

Introducción: El sangrado vaginal como causa de anemia grave no es frecuente en la edad pediátrica, pero cuando aparece suele ser secundario a una hemorragia uterina disfuncional. El tratamiento del mismo tiene como objetivo el establecimiento y/o mantenimiento de la estabilidad hemodinámica del paciente. La situación actual en España establece que toda actuación en el ámbito de la salud de un paciente necesita el consentimiento libre y voluntario del afectado, siendo necesario el consentimiento por representación por varias razones, de las que destacamos que el paciente sea menor de edad y no sea capaz intelectual ni emocionalmente de comprender el alcance de la intervención. El consentimiento informado por representación debe adoptarse atendiendo siempre al mayor beneficio para la vida o salud del paciente. Caso clínico. Presentamos un caso de sangrado vaginal con una hemoglobina de 5 g/L, en una niña de 13 años que rechaza la transfusión sanguínea por creencias religiosas. Ante la anemia grave y la negativa de la paciente y de los padres a administrar la transfusión, se decide como primera medida la administración de líquidos intravenosos y aporte de hierro intravenoso, solicitando autorización judicial para, en caso de fracaso del tratamiento inicial, poder trasfundir concentrado de hematíes, situación que no se produce dada su repuesta favorable. Conclusiones. La buena evolución de la paciente nos permite concluir que ante una causa que imposibilite la transfusión sanguínea se puede administrar hierro intravenoso con buena repuesta

Introduction: Vaginal bleeding as a cause of severe anemia is not frequent in the pediatric age. However when it appears, it is generally secondary to dysfunction uterine bleeding. The objective of its treatment is to establish and/ or maintain the hemodynamic stability of the patient. The current situation in Spain establishes that all action within the health care setting of a patient requires free and voluntary consent of the patient, consent by representation being necessary for several reasons, standing out among them that the patient is a minor and is not intellectually or emotional capable of understanding the scope of the intervention. Informed consent by representation should always be adopted considering the best benefit for the patient's life or health. Clinical case. We present a case of vaginal bleeding with 5 g/L hemoglobin in a 13-year old girl who rejected blood transfusion due to religious beliefs. In view of the severe anemia and rejection by the patient and her parents to administer the transfusion, it was decided as a first step to administer intravenous fluids and intravenous iron supply and to request court authorization in case of initial treatment failure to be able to make a concentration red blood cell transfusion, a situation which did not occur given her favorable response. Conclusions. The good evolution of the patient allowed us to conclude that when it is not possible to perform a blood transfusion, intravenous iron can be administered with good response

Optimización del tratamiento insulínico en la diabetes mellitus tipo 1 del niño / No disponible

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Validación: se necesitan instrumentos fiables. Escala de actitud y encuesta de opinión / Verification: reliable instruments needed. Attitude scale and opinion poll

La utilización del método cientifico, en la investigación en enfermerfa, requiere evitar en todo momento la subjetividad. Recogemos datos a través de los instrumentos, que deben ser operativos, válidos y fiables. Se desarrollan y validan dos instrumentos: una encuesta de opinión de 9 preguntas, mediante tests-retests y con una concordancia de proporciones del 93,40%; y una escala de actitud tipo Likert, aplicando la «t» de Student a 59 proposiciones iniciales, recogiendo la escala definitiva con 7 ftems positivos y 7 negativos con significación estadfstica al nivefde confianza del 95%, para una prueba bilateral y con 22 grados de libertad. El trabajo se llevó a cabo mediante un grupo piloto de 43 enfermeras, como ejercicio práctico del taller sobre investigación en enfermerfa celebrado en el Hospital, organizado por la Dirección de Enfermerfa e impartido por el coordinador del grupo

The use of the scientific method in research and investigation in nursing requires avoiding subjectivity at all times. Professionals obtain data by means of instruments which must be operative, valid and reliable. The authors develop and verify two instruments: a nine question opinion poli which uses tests and retests, having a 93-40% concordance proportion. A Likert type attitude scale, applying the «t» in Student to 59 initial propositions, obtaining a definitive scale having 7 positive items and 7 negative ones which gave a 95% confidence 1evel of statistical meaning for a bilateral test and which had 22 degrees-of liberty. This study took place using a pilot group of 43 nurses; it was a practical shop exercise on research in nursing occurred in the Hospital, organized by the Nursing Administration and taught by the group coordinator