Association of various symptoms and histological alterations in the diagnosis of pediatric ulcerative colitis.

Ulcerative colitis (UC) is a chronic, relapsing inflammatory bowel disease (IBD) of the colon. Its presentation is varied, with the main symptoms being mucosanguineous diarrhea, abdominal pain, and weight loss. However, the diagnostic utility of these symptoms in pediatric populations is controversial.

Inferring disease course from differential exon usage in the wide titinopathy spectrum.

Objective: Biallelic titin truncating variants (TTNtv) have been associated with a wide phenotypic spectrum, ranging from complex prenatal muscle diseases with dysmorphic features to adult-onset limb-girdle muscular dystrophy, with or without cardiac involvement. Given the size and complexity of TTN, reaching an unequivocal molecular diagnosis and precise disease prognosis remains challenging.

Methods: In this case series, 12 unpublished cases and one already published case with biallelic TTNtv were collected from multiple international medical centers between November 2022 and September 2023.

Fetal Anemia: Determinants and Perinatal Outcomes according to the Method of Intrauterine Blood Transfusion.

Introduction: Fetal anemia from hemolytic disease treated by intrauterine transfusion (IUT) can be performed by intraperitoneal, intracardiac, and intravascular transfusion (IVT). Objective of our study was to compare different transfusion techniques.

Methods: Retrospective review of IUT secondary to red cell alloimmunization was conducted at eight international centers from 2012 to 2020.

Universal screening programme for cytomegalovirus infection in the first trimester of pregnancy: study protocol for an observational multicentre study in the area of Barcelona (CITEMB study).

Introduction: Congenital cytomegalovirus (cCMV) is the leading cause of non-genetic sensorineural hearing loss and one of the main causes of neurological disability. Despite this, no universal screening programme for cCMV has been implemented in Spain. A recent study has shown that early treatment with valaciclovir, initiated in the first trimester and before the onset of signs in the fetus, reduces the risk of fetal infection.

Characteristics and outcomes of multisystem inflammatory syndrome in children: A multicenter, retrospective, observational cohort study in Mexico.

Introduction: Multisystem inflammatory syndrome in children associated with coronavirus disease 2019 (MIS-C), a novel hyperinflammatory condition secondary to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, is associated with severe outcomes such as coronary artery aneurysm and death.

Methods: This multicenter, retrospective, observational cohort study including eight centers in Mexico, aimed to describe the clinical characteristics and outcomes of patients with MIS-C. Patient data were evaluated using latent class analysis (LCA) to categorize patients into three phenotypes: toxic shock syndrome-like (TSSL)-MIS-C, Kawasaki disease-like (KDL)-MIS-C, and nonspecific MIS-C (NS-MIS-C).

First-trimester screening for pre-eclampsia and small for gestational age: A comparison of the gaussian and Fetal Medicine Foundation algorithms.

Objective: Pre-eclampsia (PE) and small for gestational age (SGA) can be predicted from the first trimester. The most widely used algorithm worldwide is the Fetal Medicine Foundation (FMF) algorithm. The recently described Gaussian algorithm has reported excellent results although it is unlikely to be externally validated.

Practice patterns amongst fetal centers performing intrauterine transfusions (PACT): An international survey study.

Objectives: Fetal anemia secondary to incompatibility between maternal-fetal blood types can result in hydrops and demise. Intrauterine transfusions have improved survival in experience centers. Our objective was to determine the practice patterns amongst fetal centers.

Array study in fetuses with nuchal translucency above the 95th percentile: a 4-year observational single-centre study.

Purpose: To evaluate the performance of chromosomal microarray analysis (CMA) in fetuses with nuchal translucency (NT) > 95th percentile. Secondary objectives were to analyze these results according to NT thickness, below or above 3.5 mm, and those without associated anomalies.

Evolución clínica de trabajadores con fractura de radio distal Fernández III. Tratamiento no complicado quirúrgico y no quirúrgico.

Antecedentes: Las fracturas de radio distal Fernández III (FRDF III) son una urgencia muy frecuente. Las indicaciones quirúrgicas y no quirúrgicas persisten controversiales, así como el impacto funcional.

Objetivo: Comparar la evolución clínica de los trabajadores con FRDF III, con manejo quirúrgico frente a no quirúrgico, no complicados, en un hospital especializado.

Early Prophylactic Enoxaparin for the Prevention of Preeclampsia and Intrauterine Growth Restriction: A Randomized Trial.

Background: Preeclampsia (PE) and intrauterine growth restriction (IUGR) are major causes of maternal and perinatal morbidity and mortality. Previous studies have shown that intervention with low-dose aspirin resulted in a reduction in the occurrence of preterm PE. However, no data are currently available on the effect of low-molecular-weight heparin (LMWH) for the prevention of pregnancy complications in women enrolled at first trimester screening.

Perinatal outcomes and central nervous system abnormalities following intrauterine fetal transfusion: 17 years' experience in a tertiary center.

Background: This study aimed to describe the perinatal outcome and central nervous system (CNS) anomalies in fetuses undergoing red blood cell (RBC) intrauterine transfusion (IUT).

Methods And Materials: This was an observational single-cohort study carried out at Vall d'Hebron University Hospital in Barcelona, Spain, between 2002 and 2018 in women undergoing RBC IUT for suspected fetal anemia. Primary outcomes were adverse perinatal outcome (intrauterine or neonatal death and termination of pregnancy [TOP]), prenatal or postnatal CNS anomalies, and significant neurological impairment.

Diagnostic accuracy of first-trimester combined screening for early-onset and preterm pre-eclampsia at 8-10 compared with 11-13 weeks' gestation.

Objectives: To compare the ability of first-trimester combined screening for pre-eclampsia (PE) to predict early-onset and preterm PE when pregnancy-associated plasma protein-A (PAPP-A) and placental growth factor (PlGF) were assessed before vs after 11 weeks' gestation.

Methods: This was a secondary analysis of a prospective cohort study of singleton pregnancies undergoing routine first-trimester screening conducted at Vall d'Hebron University Hospital, Barcelona, Spain, between October 2015 and September 2017. Demographic characteristics, obstetric history, maternal history and biophysical markers (mean uterine artery pulsatility index and mean arterial blood pressure (MAP)) were recorded at the first-trimester scan (at 11 + 0 to 13 + 6 weeks' gestation).

[Acromioclavicular dislocation management with use of Tight Rope luxation acromioclavicular con Tight Rope].

Introduction: The acromioclavicular joint, important part of the shoulder complex is formed by clavicular lateral end and acromial medial border, with high index of injury in different grades, associated to physical activity and work accidents, most commonly in active young adults.

Objective: To analyze functional outcomes in patients with acromioclavicular dislocation with use of tight rope in one year. Material and methods: Descriptive, prospective, longitudinal, unicentric study, from March 2015 and July 2016 in post-operated patients with diagnosis of acromioclavicular dislocation grade III in Hospital de Traumatología y Ortopedia de Puebla.

Management and outcome of pregnancies in women with red cell isoimmunization: a 15-year observational study from a tertiary care university hospital.

Background: The aims of this study were to determine the prevalence of the different anti-erythrocytic alloantibodies, to describe pregnancy outcomes according to a low-risk and high-risk classification for fetal anemia and to determine the factors that influence adverse perinatal outcomes.

Methods: This retrospective observational study included women referred to our center following the identification of maternal anti-erythrocytic alloantibodies between 2002 and 2017. Pregnancies were classified as high risk for fetal anemia in cases with clinically significant antibodies, no fetal-maternal compatibility and titers ≥1:16 or any titration in cases of Kell system incompatibility.

Clinical application of a contingent screening strategy for trisomies with cell-free DNA: a pilot study.

Background: Different strategies have been designed for clinical implementation of cell-free DNA (cfDNA) testing. We aimed to evaluate the performance of a contingent strategy based on conventional screening and offering cfDNA to the intermediate-risk group, for the screening for trisomies 21, 18 and 13. Secondary objectives were to assess the uptake of cfDNA in women with intermediate-risk, to evaluate the performance of cfDNA testing, and the preferences of pregnant women with intermediate risk.

Geminivirus Replication Protein Impairs SUMO Conjugation of Proliferating Cellular Nuclear Antigen at Two Acceptor Sites.

Geminiviruses are DNA viruses that replicate in nuclei of infected plant cells using the plant DNA replication machinery, including PCNA (proliferating cellular nuclear antigen), a cofactor that orchestrates genome duplication and maintenance by recruiting crucial players to replication forks. These viruses encode a multifunctional protein, Rep, which is essential for viral replication, induces the accumulation of the host replication machinery, and interacts with several host proteins, including PCNA and the SUMO E2 conjugation enzyme (SCE1). Posttranslational modification of PCNA by ubiquitin or SUMO plays an essential role in the switching of PCNA between interacting partners during DNA metabolism processes (e.

[Results of percutaneous discectomy in the management of lumbar disc herniation].

Introduction: Percutaneous discectomy is a disc decompression technique approved by the FDA that is useful to improve pain caused by a herniated disc. However, its practice is under discussion because the benefits of the technique are controversial.

Objectives: To describe the clinical course of patients with low lumbar disc herniation (L4-L5, L5-S1) treated by percutaneous surgery within one year of surgery and prove that it is a useful surgical option for the relief of symptoms caused by this pathological entity.

[Concordance between preoperatory diagnosis and arthroscopy findings of meniscal lesions associated to anterior cruciate ligament injury].

Introduction: Ligament injuries of the knee joint are common during the second and third decades of life, clinical and radiological diagnosis presents difficulties since the surgical findings may differ significantly. The objective is to determine correlation between clinical-radiologic and arthroscopic diagnosis in patients with injury of the anterior cruciate ligament (ACL) and meniscal lesions.

Material And Methods: Cross-sectional study held in 29 patients with ACL injury associated to meniscal lesions treated arthroscopically.

ß-hCG and prediction of therapeutic success in ectopic pregnancies treated with methotrexate, results from a prospective observational study.

Objective: To evaluate the diagnostic accuracy of different beta-human chorionic gonadotrophin (ß-hCG) levels measurement, for predicting success of medical treatment in cases diagnosed as tubal ectopic pregnancy (TEP).

Design: Five-year prospective observational study.

Setting: Prenatal Diagnosis Unit, Vall d'Hebron University Hospital - Barcelona.

Arabin cervical pessary to prevent preterm birth in severe twin-to-twin transfusion syndrome treated by laser surgery.

Objectives: To describe the outcome of patients with twin-to-twin transfusion syndrome and cervical length ≤ 25 mm, treated with laser and an Arabin cervical pessary.

Methods: Retrospective analysis of a consecutive series of all cases with severe twin-to-twin transfusion syndrome who underwent laser surgery: a group with cervical length above 25 mm (group A) and two groups who had a cervical length of 25 mm or less prior to the procedure. The first 8 cases (group B) were managed expectantly and the next 8 cases had a cervical pessary inserted immediately after laser surgery (group C).

Mpg2 interacts and cooperates with Mpg1 to maintain yeast glycosylation.

Using a yeast two-hybrid screen, we isolated a gene from Schizosaccharomyces pombe, whose product interacts with Mpg1, a GDP-mannose-1-phosphate guanylyltransferase involved in the maintenance of cell wall integrity and glycosylation. We have designated this gene mpg2 based on its similarity to Mpg1. Mpg2 is evolutionarily conserved in higher eukaryotes.

First trimester serum angiogenic/anti-angiogenic status in twin pregnancies: relationship with assisted reproduction technology.

Background: The risk of pre-eclampsia (PE) increases in twin pregnancies, especially when assisted reproduction technologies (ART) are used. The aim of this study was to assess angiogenic/anti-angiogenic factors in maternal serum in the first trimester of twin pregnancies and establish if the mode of conception influences angiogenic status.

Methods: This prospective study enrolled women with twin (n = 61) and singleton (n = 50) pregnancies.

Interaction between geminivirus replication protein and the SUMO-conjugating enzyme is required for viral infection.

Geminiviruses are small DNA viruses that replicate in nuclei of infected plant cells by using plant DNA polymerases. These viruses encode a protein designated AL1, Rep, or AC1 that is essential for viral replication. AL1 is an oligomeric protein that binds to double-stranded DNA, catalyzes the cleavage and ligation of single-stranded DNA, and induces the accumulation of host replication machinery.

Therapeutic indications of fetoscopy: a 5-year institutional experience.

Background: Prenatal ultrasound study allows the detection of fetal malformations. Intrauterine interventions are now contemplated to correct, or interfere with, the natural history of these anomalies. Minimally invasive techniques, such as the so-called "Fetendo" (fetal endoscopy), are now therapeutic possibilities.