Prevalence of anxiety and depression and their associated risk factors throughout pregnancy and postpartum: a prospective cross-sectional descriptive multicentred study.

OBJECTIVE: To assess the prevalence of anxiety and depression and their associated risk factors throughout the pregnancy and postpartum process using a new screening for the early detection of mental health problems. DESIGN: A prospective cross-sectional descriptive multicentred study. Participants were consecutively enrolled at ≥ 12 weeks' gestation and followed at three different time points: at 12-14 weeks of pregnancy, at 29-30 weeks of pregnancy, and 4-6 weeks postpartum. All women completed a mental screening at week 12-14 of pregnancy consisting of two questions from the Generalised Anxiety Disorder Scale (GAD-2) and the two Whooley questions. If this screening was positive, the woman completed the Edinburgh Postnatal Depression Scale (EPDS). SETTING: Seven primary care centres coordinated by a Gynaecology and Obstetrics Department in the city of Terrassa (Barcelona) in northern Spain. PARTICIPANTS: Pregnant women (N = 335, age 18-45 years), in their first trimester of pregnancy, and receiving prenatal care in the public health system between July 2018 and July 2020. FINDINGS: The most relevant factors associated with positive screening for antenatal depression or anxiety during pregnancy, that appear after the first trimester of pregnancy, are systematically repeated throughout the pregnancy, and are maintained in the postpartum period were: a history of previous depression, previous anxiety, abuse, and marital problems. In weeks 12-14 early risk factors for positive depression and anxiety screening and positive EPDS were: age, smoking, educational level, employment status, previous psychological/psychiatric history and treatment, suicide in the family environment, voluntary termination of pregnancy and current planned pregnancy, living with a partner and partner's income. In weeks 29-30 risk factors were: being a skilled worker, a history of previous depression or anxiety, and marital problems. In weeks 4-6 postpartum, risk factors were: age, a history of previous depression or anxiety or psychological/psychiatric treatment, type of treatment, having been mistreated, and marital problems. CONCLUSIONS: Early screening for anxiety and depression in pregnancy may enable the creation of more effective healthcare pathways, by acting long before mental health problems in pregnant women worsen or by preventing their onset. Assessment of anxiety and depression symptoms before and after childbirth and emotional support needs to be incorporated into routine practice.

Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome.

BACKGROUND: Temple syndrome (TS14) is a rare imprinting disorder caused by maternal UPD14, imprinting defects or paternal microdeletions which lead to an increase in the maternal expressed genes and a silencing the paternally expressed genes in the 14q32 imprinted domain. Classical TS14 phenotypic features include pre- and postnatal short stature, small hands and feet, muscular hypotonia, motor delay, feeding difficulties, weight gain, premature puberty along and precocious puberty. METHODS: An exon array comparative genomic hybridization was performed on a patient affected by psychomotor and language delay, muscular hypotonia, relative macrocephaly, and small hand and feet at two years old. At 6 years of age, the proband presented with precocious thelarche. Genes dosage and methylation within the 14q32 region were analyzed by MS-MLPA. Bisulfite PCR and pyrosequencing were employed to quantification methylation at the four known imprinted differentially methylated regions (DMR) within the 14q32 domain: DLK1 DMR, IG-DMR, MEG3 DMR and MEG8 DMR. RESULTS: The patient had inherited a 69 Kb deletion, encompassing the entire DLK1 gene, on the paternal allele. Relative hypermethylation of the two maternally methylated intervals, DLK1 and MEG8 DMRs, was observed along with normal methylation level at IG-DMR and MEG3 DMR, resulting in a phenotype consistent with TS14. Additional family members with the deletion showed modest methylation changes at both the DLK1 and MEG8 DMRs consistent with parental transmission. CONCLUSION: We describe a girl with clinical presentation suggestive of Temple syndrome resulting from a small paternal 14q32 deletion that led to DLK1 whole-gene deletion, as well as hypermethylation of the maternally methylated DLK1-DMR.

Case report: Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndrome.

Background: Moebius Syndrome (MBS) is a rare congenital neurological disorder characterized by paralysis of facial nerves, impairment of ocular abduction and other variable abnormalities. MBS has been attributed to both environmental and genetic factors as potential causes. Until now only two genes, PLXND1 and REV3L have been identified to cause MBS. Results: We present a 9-year-old male clinically diagnosed with MBS, presenting facial palsy, altered ocular mobility, microglossia, dental anomalies and congenital torticollis. Radiologically, he lacks both abducens nerves and shows altered symmetry of both facial and vestibulocochlear nerves. Whole-exome sequence identified a de novo missense variant c.643G>A; p.Gly215Arg in CHN1, encoding the α2-chimaerin protein. The p.Gly215Arg variant is located in the C1 domain of CHN1 where other pathogenic gain of function variants have been reported. Bioinformatic analysis and molecular structural modelling predict a deleterious effect of the missense variant on the protein function. Conclusion: Our findings support that pathogenic variants in the CHN1 gene may be responsible for different cranial congenital dysinnervation syndromes, including Moebius and Duane retraction syndromes. We propose to include CHN1 in the genetic diagnoses of MBS.

SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population.

Accurate classification of genetic variants is crucial for clinical decision-making in hereditary cancer. In Spain, genetic diagnostic laboratories have traditionally approached this task independently due to the lack of a dedicated resource. Here we present SpadaHC, a web-based database for sharing variants in hereditary cancer genes in the Spanish population. SpadaHC is implemented using a three-tier architecture consisting of a relational database, a web tool and a bioinformatics pipeline. Contributing laboratories can share variant classifications and variants from individuals in Variant Calling Format (VCF) format. The platform supports open and restricted access, flexible dataset submissions, automatic pseudo-anonymization, VCF quality control, variant normalization and liftover between genome builds. Users can flexibly explore and search data, receive automatic discrepancy notifications and access SpadaHC population frequencies based on many criteria. In February 2024, SpadaHC included 18 laboratory members, storing 1.17 million variants from 4306 patients and 16 343 laboratory classifications. In the first analysis of the shared data, we identified 84 genetic variants with clinically relevant discrepancies in their classifications and addressed them through a three-phase resolution strategy. This work highlights the importance of data sharing to promote consistency in variant classifications among laboratories, so patients and family members can benefit from more accurate clinical management. Database URL: https://spadahc.ciberisciii.es/.

Molecular and Phenotypic Characterization of the RORB-Related Disorder.

BACKGROUND AND OBJECTIVES: Heterozygous variants in RAR-related orphan receptor B (RORB) have recently been associated with susceptibility to idiopathic generalized epilepsy. However, few reports have been published so far describing pathogenic variants of this gene in patients with epilepsy and intellectual disability (ID). In this study, we aimed to delineate the epilepsy phenotype associated with RORB pathogenic variants and to provide arguments in favor of the pathogenicity of variants. METHODS: Through an international collaboration, we analyzed seizure characteristics, EEG data, and genotypes of a cohort of patients with heterozygous variants in RORB. To gain insight into disease mechanisms, we performed ex vivo cortical electroporation in mouse embryos of 5 selected variants, 2 truncating and 3 missense, and evaluated on expression and quantified changes in axonal morphology. RESULTS: We identified 35 patients (17 male, median age 10 years, range 2.5-23 years) carrying 32 different heterozygous variants in RORB, including 28 single-nucleotide variants or small insertions/deletions (12 missense, 12 frameshift or nonsense, 2 splice-site variants, and 2 in-frame deletions), and 4 microdeletions; de novo in 18 patients and inherited in 10. Seizures were reported in 31/35 (89%) patients, with a median age at onset of 3 years (range 4 months-12 years). Absence seizures occurred in 25 patients with epilepsy (81%). Nineteen patients experienced a single seizure type: absences, myoclonic absences, or absences with eyelid myoclonia and focal seizures. Nine patients had absence seizures combined with other generalized seizure types. One patient had presented with absences associated with photosensitive occipital seizures. Three other patients had generalized tonic-clonic seizures without absences. ID of variable degree was observed in 85% of the patients. Expression studies in cultured neurons showed shorter axons for the 5 tested variants, both truncating and missense variants, supporting an impaired protein function. DISCUSSION: In most patients, the phenotype of the RORB-related disorder associates absence seizures with mild-to-moderate ID. In silico and in vitro evaluation of the variants in our cohort, including axonal morphogenetic experiments in cultured neurons, supports their pathogenicity, showing a hypomorphic effect.

Inteligencia Emocional Percibida en pacientes diagnosticados de Trastorno de Pánico con Agorafobia / Perceived emotional intelligence in outpatients diagnosed with panic disorder with agoraphobia

Entre los trastornos de ansiedad, el trastorno de pánico con agorafobia es el más incapacitante y se ha demostrado que está asociado a dificultades en el procesamiento emocional. La Inteligencia Emocional (IE) que comprende las habilidades para percibir, usar, comprender y regular las emociones puede resultar de utilidad en el estudio de estas dificultades. Nuestro objetivo en este estudio descriptivo fue investigar la relación entre la IE y los síntomas clínicos de la agorafobia en una muestra de 99 pacientes diagnosticados de trastorno de pánico con agorafobia y 101 controles no clínicos que fueron evaluados con la TMMS-24, la SCL-R-90 y el Inventario de Agorafobia. Las puntuaciones en Atención y Regulación emocional permitieron diferenciar entre ambos grupos. Además, las correlaciones entre Reparación de emociones y los síntomas de ansiedad (r=-0.414, p=0.000) y agorafobia (r=-0.363, p=0.006) indican que la percepción subjetiva de una baja autoeficacia emocional podría constituir un factor de vulnerabilidad en el desarrollo o mantenimiento del trastorno de pánico con agorafobia (AU)

Of all anxiety disorders, panic disorder with agoraphobia is the most disabling one, and it has been associated with difficulties in emotional processing. Emotional Intelligence (EI), which convers a set of abilities to perceive, use, understand and manage emotions, can be useful for studying these difficulties. The aim of this descriptive study was to investigate the relationship between EI and clinical symptoms of agoraphobia in a sample of 99 outpatients diagnosed with panic disorder with agoraphobia and 101 healthy controls who were assessed with the TMMS-24, SCL-R-90 and Agoraphobia Inventory. Scores in Emotional attention and Regulation showed a difference between both groups. In addition, correlations between Emotional Repair, on one hand, and anxiety symptoms (r=-0.414, p= 0.000) and agoraphobia (r=-0.363, p=0.006) on the other, suggest that a perceived low emotional self-efficacy could constitute a vulnerability factor in the development or maintenance of panic disorder with agoraphobia (AU)

Nefrectomía radical abierta y laparoscópica: estudio comparativo de cuidados de enfermería y calidad de vida / No disponible

En la Fundación Puigvert se ha introducido la nefrectomía laparoscópica como innovación quirúrgica durante el año 2001. Desde enero de 2001 se emplean ambas técnicas quirúrgicas simultáneamente, disminuyendo progresivamente el número de nefrectomías abiertas en beneficio de la cirugía laparoscópica, lo cual nos exige no sólo conocer las diferencias clínicas existentes entre ambas, sino discernirlos cuidados de enfermería a proporcionar según la demanda asistencial. Como equipo de enfermería consideramos que es imprescindible poseer un cuerpo de conocimientos, habilidades y actitudes que se adapten a los cambios e innovaciones. De este modo podremos identificar necesidades de salud, planificar cuidados de enfermería adecuados, prevenir complicaciones y contribuir a la adaptación del paciente a la vida diaria fomentando la independencia en todas sus necesidades según el modelo conceptual de Virginia Henderson. El objetivo de este estudio es describir desde un punto de vista comparativo la evolución posquirúrgica de la nefrectomía radical abierta y laparoscópica durante la hospitalización y el alta domiciliaria, en función de los cuidados de enfermería requeridos según el modelo conceptual de Virginia Henderson (AU)

In the Puigvert Foundation the laparoscopic nephrectomy has been introduced as surgical innovation during 2001. From January 2001both surgical techniques are used simultaneously, decreasing progressively the number of open nephrectomies for the benefit of the laparoscopic surgery, which requires that us not only to know the existing clinical differences between both, but to discern the cares of nursing to provide according to the demand. We, as a nursing team, consider that it is essential to possess a corps of knowledge, skills and attitudes that could be adapted to changes and innovations. In this way, we will be able to identify health needs, plan adequate nursing cares, prevent complications, and contribute to the adaptation of the patient to daily life encouraging the independence in all their needs according to the conceptual model of Virginia Henderson. The goal of this study is to describe from a comparative point of view the post-surgical evolution of the open radical nephrectomy and laparoscopic during the hospitalization and the house discharge, according to the nursing cares required according to the conceptual model of Virginia Henderson (AU)