Impact of COVID-19 infection on genitourinary cancer management. SOGUG-COVID-19: A spanish, multicenter, observational study.

Introduction: The COVID-19 pandemic is a great burden worldwide, but its impact on patients with genitourinary cancer (GUC) is poorly characterized. This study aimed to characterize the clinical features and evolution of GUC patients affected by COVID-19 in Spain.

Patients And Methods: SOGUG-COVID-19 was an observational ambispective non-interventional study that recruited patients with SARS-CoV-2 infection who had been treated for GUC in 32 Spanish hospitals.

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.

Background: Imprinting disorders are rare diseases resulting from altered expression of imprinted genes, which exhibit parent-of-origin-specific expression patterns regulated through differential DNA methylation. A subgroup of patients with imprinting disorders have DNA methylation changes at multiple imprinted loci, a condition referred to as multi-locus imprinting disturbance (MLID). MLID is recognised in most but not all imprinting disorders and is also found in individuals with atypical clinical features; the presence of MLID often alters the management or prognosis of the affected person.

Timing of coronary angiography and use of antiplatelet pretreatment in patients with NSTEACS in Spain.

Introduction And Objectives: The optimal timing of coronary angiography in patients admitted with non-ST-segment elevation acute coronary syndrome (NSTEACS) as well as the need for pretreatment are controversial. The main objective of the IMPACT-TIMING-GO registry was to assess the proportion of patients undergoing an early invasive strategy (0-24hours) without dual antiplatelet therapy (no pretreatment strategy) in Spain.

Methods: This observational, prospective, and multicenter study included consecutive patients with NSTEACS who underwent coronary angiography that identified a culprit lesion.

RE-START: Exploring the effectiveness of anti-calcitonin gene-related peptide resumption after discontinuation in migraine.

Background And Purpose: According to the latest European guidelines, discontinuation of monoclonal antibodies against calcitonin gene-related peptide (anti-CGRP MAb) may be considered after 12-18 months of treatment. However, some patients may worsen after discontinuation. In this study, we assessed the response following treatment resumption.

[Assessment of the eating habit in the health-related lifestyle among Spanish adults from 22 to 72 years of age].

Introduction: eating habits are one of the main predictors of health within a person lifestyle. The assessment of these habits will be essential to confirm health-related habits and orientate behaviors of risk for health. Objectives: to assess the eating habits within the health-related lifestyle among Spanish adults from 22 to 72 years of age.

Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed?

Since the advent of new generation sequencing, professionals are aware of the possibility of obtaining findings unrelated to the pathology under study. However, this possibility is usually forgotten in the case of studies aimed at a single gene or region. We report a case of a 16-month-old girl with clinical suspicion of Silver-Russell syndrome (SRS).

Gene GGGGCC Hexanucleotide Expansion: A High Clinical Variability from Amyotrophic Lateral Sclerosis to Frontotemporal Dementia.

The expanded GGGGCC hexanucleotide repeat (HRE) in the non-coding region of the gene (C9ORF72-HRE) is the most common genetic cause of familial forms of amyotrophic lateral sclerosis (ALS), FTD, and concurrent ALS and FTD (ALS-FTD), in addition to contributing to the sporadic forms of these diseases. Both syndromes overlap not only genetically, but also sharing similar clinical and neuropathological findings, being considered as a spectrum. In this paper we describe the clinical-genetic findings in a Basque family with different manifestations within the spectrum, our difficulties in reaching the diagnosis, and a narrative review, carried out as a consequence, of the main features associated with C9ORF72-HRE.

Imprinting disorders.

Imprinting disorders (ImpDis) are congenital conditions that are characterized by disturbances of genomic imprinting. The most common individual ImpDis are Prader-Willi syndrome, Angelman syndrome and Beckwith-Wiedemann syndrome. Individual ImpDis have similar clinical features, such as growth disturbances and developmental delay, but the disorders are heterogeneous and the key clinical manifestations are often non-specific, rendering diagnosis difficult.

[Translated article] The efficacy of topical tranexamic acid in reverse shoulder arthroplasty.

Introduction: Topical tranexamic acid (TXA) has been shown to decrease blood loss in knee and hip arthroplasty. Despite there is evidence about its effectiveness when administered intravenous, its effectiveness and optimal dose when used topically have not been established. We hypothesised that the use of 1.

New pathogenic variant in : New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly.

FATCO (Fibular Aplasia, Tibial Campomelia and Oligosyndactyly) is a very infrequent skeletal dysplasia classified within the limb hypoplasia-reduction defects group whose genetic cause has not yet been identified. The advent of next-generation sequencing is enabling the diagnosis of diseases with no previously known genetic cause. We performed a thorough autopsy on a fetus whose pregnancy was legally terminated due to severe malformations detected by ultrasound.

The efficacy of topical tranexamic acid in reverse shoulder arthroplasty.

Introduction: Topical tranexamic acid (TXA) has been shown to decrease blood loss in knee and hip arthroplasty. Despite there is evidence about its effectiveness when administered intravenous, its effectiveness and optimal dose when used topically has not been established. We hypothesized that the use of 1.

Frequency of variants and parental mosaicism in families with inactivating PTH/PTHrP signaling disorder type 2.

Objective: iPPSD2 (which includes PHP1A and PPHP/POH) is a rare inherited autosomal dominant endocrine disorder caused by inactivating pathogenic variants. A high percentage of cases has been suggested. In rare cases, parental mosaicism has been described, but its real frequency is unknown.

Analysis of a large case series of fatal familial insomnia to determine tests with the highest diagnostic value.

Fatal familial insomnia (FFI) is a rare prionopathy with unusually high incidence in the Basque Country. We report detailed data on clinical, diagnostic, histopathological, and biochemical characteristics of a recent FFI case series. The Basque Brain Bank database was screened for patients diagnosed from 2010 to 2021 with standard genetic and/or neuropathological criteria.

Incidence and Risk Factors for Infectious Complications of EBUS-TBNA: Prospective Multicenter Study.

Unlabelled: The aim of our study was to describe the incidence of infectious complications of endobronchial ultrasound guided transbronchial needle aspiration (EBUS-TBNA) and to analyze the potential risk factors in a prospective cohort of patients.

Methods: We conducted a prospective multicenter study, with all consecutive patients referred for an EBUS-TBNA with patients at risk of developing an infectious complication (considering>10 nodal samplings, known immunosuppression, bronchial colonization and cavitated or necrotic lesions) and a second group without any risk factor.

Results: Three hundred seventy patients were included: 245 with risk factors and 125 without risk factors (as the control group).

Serum Selenium and Incident Cardiovascular Disease in the PREvención con DIeta MEDiterránea (PREDIMED) Trial: Nested Case-Control Study.

Background: Selenium is an essential trace mineral with potential interest for cardiovascular disease (CVD) prevention owing to its antioxidant properties. Epidemiological data on selenium status and CVD remain inconsistent. The objective of this study was to ascertain whether low serum selenium (SSe) concentrations are related to an increased risk of a first CVD event in a population at high cardiovascular risk.

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.

Background: Imprinting disorders, which affect growth, development, metabolism and neoplasia risk, are caused by genetic or epigenetic changes to genes that are expressed from only one parental allele. Disease may result from changes in coding sequences, copy number changes, uniparental disomy or imprinting defects. Some imprinting disorders are clinically heterogeneous, some are associated with more than one imprinted locus, and some patients have alterations affecting multiple loci.

Effect of LHRH analogs on lower urinary tract symptoms associated with advanced prostate cancer in real clinical practice: ANALUTS study.

Aims: To estimate the prevalence of lower urinary tract symptoms (LUTS) in patients with prostate cancer scheduled to receive LHRH analogs, and to assess the effectiveness of LHRH analogs on LUTS in patients presenting moderate/severe symptoms.

Methods: Prospective, noninterventional, multicenter study conducted at 28 centers in Spain and Portugal. LUTS were evaluated using the International Prostate Symptom Score (IPSS) at baseline, 24 and 48 weeks after initiation of treatment.

Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances.

Background: Beckwith-Wiedemann syndrome (BWS) and Pseudohypoparathyroidism type 1B (PHP1B) are imprinting disorders (ID) caused by deregulation of the imprinted gene clusters located at 11p15.5 and 20q13.32, respectively.

Consensus of the ambulatory surgery commite section of the Spanish Association of Surgeons on the role of ambulatory surgery in the SARS-CoV-2 pandemic.

The current situation of the SARS-CoV-2 pandemic has paralyzed non-urgent and/or oncological surgery in many hospitals in our country with what it means for the health of citizens who are awaiting a surgical procedure. Outpatient Surgery can afford more than 85% of the surgical procedures that are performed in a surgical department and is presented as a feasible and safe alternative at the present time since it does not require admission and decreases clearly the risk of infection. In addition, it is the tool that should be generalized to solve the accumulation of patients on the waiting list that the pandemic is generating, so it seems appropriate that the Ambulatory Surgery section of the Spanish Association of Surgeons present a series of recommendations for the implementation of outpatient surgery in these exceptional circumstances that we have to live.

Real-World Characteristics and Outcome of Patients Treated With Single-Agent Ibrutinib for Chronic Lymphocytic Leukemia in Spain (IBRORS-LLC Study).

Background: Ibrutinib demonstrated remarkable efficacy and favorable tolerability in patients with untreated or relapsed/refractory (R/R) chronic lymphocytic leukemia (CLL), including those with high-risk genetic alterations. The IBRORS-CLL study assessed the characteristics, clinical management and outcome of CLL patients receiving ibrutinib in routine clinical practice in Spain.

Patients: Observational, retrospective, multicenter study in CLL patients who started single-agent ibrutinib as first-line treatment or at first or second relapse between January 2016 and January 2019.