Expert consensus of the Spanish Society of Pathology and the Spanish Society of Medical Oncology on the determination of biomarkers in pancreatic and biliary tract cancer.

Pancreatic cancer and biliary tract cancer have a poor prognosis. In recent years, the development of new diagnostic techniques has enabled the identification of the main genetic alterations involved in the development of these tumours. Multiple studies have assessed the ability to predict response to treatment of certain biomarkers, such as BRCA in pancreatic cancer, IDH1 or FGFR2 in biliary tract cancer and microsatellite instability or NTRK fusions in an agnostic tumour fashion.

New update to the guidelines on testing predictive biomarkers in non-small-cell lung cancer: a National Consensus of the Spanish Society of Pathology and the Spanish Society of Medical Oncology.

Non-small cell lung cancer (NSCLC) presents the greatest number of identified therapeutic targets, some of which have therapeutic utility. Currently, detecting EGFR, BRAF, KRAS and MET mutations, ALK, ROS1, NTRK and RET translocations, and PD-L1 expression in these patients is considered essential. The use of next-generation sequencing facilitates precise molecular diagnosis and allows the detection of other emerging mutations, such as the HER2 mutation and predictive biomarkers for immunotherapy responses.

Clinical Application of Poly(ADP-ribose) Polymerase (PARP) Inhibitors in Prostate Cancer.

Approximately a quarter of men with metastatic castrate resistant prostate cancer (mCRPC) have alterations in homologous recombination repair (HRR). These patients exhibit enhanced sensitivity to poly(ADP-ribose) polymerase (PARP) inhibitors. Leveraging the synthetic lethality between PARP inhibition and HRR deficiency, studies have established marked clinical benefit and a survival advantage from PARP inhibitors (PARPi) in mCRPC, most notably in cancers with alterations.

Evaluation and Treatment of Pain in Fetuses, Neonates and Children.

The perception of pain is individual and differs between children and adults. The structures required to feel pain are developed at 24 weeks of gestation. However, pain assessment is complicated, especially in neonates, infants and preschool-age children.

Role of F-Choline PET/CT in the Initial Staging of High Risk Prostate Cancer and Comparison with Conventional Imaging Techniques.

Objective: To assess the diagnostic accuracy of F-Choline PET/CT in the initial staging of high-risk prostate cancer (PC), and to compare it with conventional imaging techniques and to assess the changes in therapeutic attitude derived from its results.

Secondary Objectives: To assess the concordance between F-Choline PET/CT and conventional study and to find related prognostic factors.

Material And Methods: Retrospective observational study of 78 patients with high-risk PC undergoing F-Choline PET/CT after conventional initial staging (CT + BS).

Assessment of Iodine Concentration in Human Milk from Donors: Implications for Preterm Infants.

Preterm infants are particularly vulnerable to developing iodine deficiency. Donor human milk (DHM) is the preferred feeding option if the mother’s own milk (MOM) is not available, but information on DHM iodine concentration (DHMIC) is lacking. Hence, we aimed to assess DHMIC to further evaluate the adequacy of iodine provision in preterm infants.

Clinical Differences and Outcomes of COVID-19 Associated Pulmonary Thromboembolism in Comparison with Non-COVID-19 Pulmonary Thromboembolism.

(1) Background: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection has been reported to increase the risk of pulmonary thromboembolism (PTE). The aim of this study is to elucidate whether Coronavirus disease COVID-19-associated PTE has a different clinical expression than non-COVID-19 PTE due to a different pathophysiology. (2) Methods: retrospective study of PTE episodes conducted at our hospital between January 2019 and December 2020, comparing the group of COVID-19-associated PTE patients with a control group of non-COVID-19 PTE patients.

Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the Gene (GSD XI).

Lactate dehydrogenase (LDH) catalyzes the reversible conversion of L-lactate to pyruvate. LDH-A deficiency is an autosomal recessive disorder (glycogenosis type XI, OMIM#612933) caused by mutations in the LDHA gene. We present two young adult female patients presenting with intolerance to anaerobic exercise, episodes of rhabdomyolysis, and, in one of the patients, psoriasis-like dermatitis.

Use of infographics for facilitating learning of pharmacology in the nursing degree.

Aim: To evaluate the impact of an educational intervention focused on teaching students to create infographics to improve pharmacology learning.

Design: This is a comparative study.

Methods: The population was 250 nursing students who had to create two infographics in groups related to the content that had been addressed in pharmacology in two different moments.

New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene.

The biallelic pathogenic repeat (AAGGG) intronic expansion in the RFC1 gene has been recently described as the cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) and as a major cause of late-onset ataxia. Since then, many heterozygous carriers have been identified, with an estimated allele frequency of 0.7% to 4% in the healthy population.

Initial experience with brachytherapy treatment adjuvant to surgical resection of keloid scars in the pediatric population.

Objectives: The treatment of keloid scars is based on multiple lines of therapy, with varying levels of efficacy(1), and there is currently no single treatment that guarantees cure and prevents recurrence. In the pediatric population, the treatments used are not standardized, and there is insufficient evidence to support efficacy and complications. The objective of this study was to analyze the patients who required brachytherapy as an adjuvant to surgical resection in recurrent keloid scars.

Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families.

Alazami syndrome is a rare disorder with an autosomal recessive inheritance caused by pathogenic biallelic variants in the gene. Clinically, it is mainly characterized by short stature, intellectual disability, and dysmorphic facial features. However, the phenotype is not yet well-defined because less than 50 cases have been described to date.

Antifibrotics and lung transplantation: A Spanish multicentre case-controlled study.

Background And Objective: Antifibrotic drugs are the standard treatments for patients with idiopathic pulmonary fibrosis (IPF). This study aims to assess the safety of antifibrotic treatment in IPF patients undergoing lung transplantation.

Methods: Patients with a diagnosis of IPF who received a lung transplant between January 2015 and June 2019 at four Spanish hospitals specialized in lung transplantation were retrospectively recruited.

Expert consensus of the Spanish Society of Pathology and the Spanish Society of Medical Oncology on the determination of biomarkers in pancreatic and biliary tract cancer.

Pancreatic cancer and biliary tract cancer have a poor prognosis. In recent years, the development of new diagnostic techniques has enabled the identification of the main genetic alterations involved in the development of these tumours. Multiple studies have assessed the ability of certain biomarkers, such as BRCA in pancreatic cancer, IDH1 or FGFR2 in biliary tract cancer and microsatellite instability or NTRK fusions in an agnostic tumour fashion, to predict response to treatment.

Health-Related Quality of Life Outcomes With Two Different Starting Doses of Lenvatinib in Combination With Everolimus for Previously Treated Renal Cell Carcinoma.

Background: Preserving health-related quality of life (HRQOL) is an important goal during renal cell carcinoma treatment. We report HRQOL outcomes from a phase II trial (NCT03173560).

Patients And Methods: HRQOL data were collected during a multicenter, randomized, open-label phase II study comparing the safety and efficacy of 2 different starting doses of lenvatinib (18 mg vs.

Vitamin C and folate status in hereditary fructose intolerance.

Background: Hereditary fructose intolerance (HFI) is a rare inborn error of fructose metabolism caused by the deficiency of aldolase B. Since treatment consists of a fructose-, sucrose- and sorbitol-restrictive diet for life, patients are at risk of presenting vitamin deficiencies. Although there is no published data on the status of these vitamins in HFI patients, supplementation with vitamin C and folic acid is common.

A retrospective risk factor analysis of infection and wound dehiscence following guided bone regeneration in cystectomy defects of the jaws.

This study's objective is to determine if the combined use of bone substitutes and collagen membranes is related to worse postoperative outcomes after intra-osseous oral cystectomies. Additional risk factors mentioned in the existing literature were retrospectively analysed by reviewing the medical records and imaging tests of adult patients. Age, gender, smoking habit, cyst location, size, shape, histopathology, perilesional osteosclerosis and associated intracystic third molars were registered.

The lung ultrasound "Rule of 7" in the prognosis of COVID-19 patients: Results from a prospective multicentric study.

Purpose: There is growing evidence regarding the imaging findings of coronavirus disease 2019 (COVID-19) in lung ultrasound (LUS), however the use of a combined prognostic and triage tool has yet to be explored.To determine the impact of the LUS in the prediction of the mortality of patients with highly suspected or confirmed COVID-19.The secondary outcome was to calculate a score with LUS findings with other variables to predict hospital admission and emergency department (ED) discharge.

Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review.

Lethal congenital contracture syndrome 11 (LCCS11) is caused by homozygous or compound heterozygous variants in the gene on chromosome 15q21. encodes gliomedin, a protein required for the formation of the nodes of Ranvier and development of the human peripheral nervous system. We report a fetus with ultrasound alterations detected at 28 weeks of gestation.