Novel Mutations Associated with OXPHOS Deficiency and Leigh Syndrome: A Second Family Report.

Leigh syndrome (LS) usually presents as an early onset mitochondrial encephalopathy characterized by bilateral symmetric lesions in the basal ganglia and cerebral stem. More than 75 genes have been associated with this condition, including genes involved in the biogenesis of mitochondrial complex I (CI). In this study, we used a next-generation sequencing (NGS) panel to identify two novel biallelic variants in the NADH:ubiquinone oxidoreductase subunit A13 () gene in a patient with isolated CI deficiency in skeletal muscle.

sFlt-1/PlGF ratio for the prediction of delivery within 48 hours and adverse outcomes in expectantly managed early-onset preeclampsia.

Objective: To analyze if sFlt-1/PlGF ratio is more useful than other parameters at diagnosis of early-onset (<34 weeks) preeclampsia (PE) in the prediction of delivery within 48 h and adverse maternal and perinatal outcomes.

Method: Observational retrospective study of a cohort of 76 singleton pregnancies with early-onset PE and expectant management. The predictive value of sFlt-1/PlGF ratio, blood pressure, proteinuria, creatinine, liver enzymes and platelets at diagnosis for delivery < 48 h and adverse outcomes was determined.

SARS-CoV-2 in pregnancy: characteristics and outcomes of hospitalized and non-hospitalized women due to COVID-19.

Background: There is little evidence about how novel coronavirus (SARS-CoV-2) affects pregnant women and their newborns. Comparisons with other members of the coronavirus family responsible for severe acute respiratory syndrome (SARS) have been done to predict maternal and neonatal outcomes; however, more information is required to establish clinical patterns, disease evolution and pregnancy prognosis in this group of patients.

Methods: This paper is reporting a series of 91 women diagnosed with SARS-CoV-2 infection during pregnancy and puerperium.

Universal screening for SARS-CoV-2 before labor admission during Covid-19 pandemic in Madrid.

Objectives Asymptomatic women admitted to labor may act as silent spreaders of COVID-19. Therefore, universal screening at admission has been proposed. The objective of the study was to evaluate the performance of universal screening for SARS-CoV-2 using quantitative reverse transcription polymerase-chain-reaction (qRT-PCR) tests in women admitted to labor.

The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1.

The number of cytosine-thymine-guanine (CTG) repeats ('CTG expansion size') in the 3'untranslated region (UTR) region of the -protein kinase () gene is a hallmark of myotonic dystrophy type 1 (DM1), which has been related to age of disease onset and clinical severity. However, accurate determination of CTG expansion size is challenging due to its characteristic instability. We compared five different approaches (heat pulse extension polymerase chain reaction [PCR], long PCR-Southern blot [with three different primers sets-1, 2 and 3] and small pool [SP]-PCR) to estimate CTG expansion size in the progenitor allele as well as the most abundant CTG expansion size, in 15 patients with DM1.

Maternal type of CMV infection and sequelae in infants with congenital CMV: Systematic review and meta-analysis.

Cytomegalovirus (CMV) is the most common congenital infection. Intrauterine transmission may occur following primary (PI) or non-primary (NPI) maternal infection and result in both neonatal symptomaticdisease and long-term complications.The aim of the present systematic review and meta-analysis was the qualitative and quantitative comparison of neonatal symptomatic disease and long-term sequelae of congenitally CMV infected children born following maternal PI or NPI.

Impact of duration of antibiotic therapy in central venous catheter-related bloodstream infection due to Gram-negative bacilli.

Background: A progressive increase in the incidence of catheter-related bloodstream infection (CRBSI) due to Gram-negative bacilli (GNB) has been reported. Current guidelines recommend antibiotic treatment for at least 7-14 days, although the supporting evidence is limited.

Methods: We performed a retrospective single-centre study including all patients with a definite diagnosis of GNB CRBSI from January 2012 to October 2018 in which the central venous catheter (CVC) was removed.

Salivary lactoferrin as biomarker for Alzheimer's disease: Brain-immunity interactions.

Objective: We aim to explain why salivary lactoferrin (Lf) levels are reduced in patients suffering mild cognitive impairment (MCI) and sporadic Alzheimer's disease (sAD). We also will discuss if such Lf decrease could be due to a downregulation of the sAD associated systemic immunity.

Background: Several non-neurological alterations have been described in sAD, mainly in skin, blood cell, and immunological capacities.

Derivation and external validation of the SIMPLICITY score as a simple immune-based risk score to predict infection in kidney transplant recipients.

Existing approaches for infection risk stratification in kidney transplant recipients are suboptimal. Here, we aimed to develop and validate a weighted score integrating non-pathogen-specific immune parameters and clinical variables to predict the occurrence of post-transplant infectious complications. To this end, we retrospectively analyzed a single-center derivation cohort of 410 patients undergoing kidney transplantation in 2008-2013 in Madrid.

Congenital cutaneous candidiasis associated with maternal peripartum candidemia.

Background: Cutaneous congenital candidiasis (CCC) is a rare condition consisting of invasive fungal infection of the epidermis and dermis that mostly affects preterm infants. Maternal vaginal candidiasis is present in half of the cases, although the occurrence of invasive candidiasis during pregnancy or peripartum period is exceptional.

Case Report: We present the case of a full-term infant that was born by vacuum-assisted vaginal delivery to an apparently healthy 33 year-old woman with no history of intravenous drug use or vaginal candidiasis during pregnancy.

Physiological Predictors of Competition Performance in CrossFit Athletes.

The aim of this study was to determine the physiological variables that predict competition performance during a CrossFit competition. Fifteen male amateur CrossFit athletes (age, 35 ± 9 years; CrossFit experience, 40 ± 27 months) performed a series of laboratory-based tests (incremental load test for deep full squat and bench press; squat, countermovement and drop jump tests; and incremental running and Wingate tests) that were studied as potential predictors of CrossFit performance. Thereafter, they performed the five Workouts of the Day (WODs) corresponding to the CrossFit Games Open 2019, and we assessed the relationship between the laboratory-based markers and CrossFit performance with regression analyses.

Clinical Outcomes of a Zika Virus Mother-Child Pair Cohort in Spain.

Background: Zika virus (ZIKV) infection has been associated with congenital microcephaly and other neurodevelopmental abnormalities. There is little published research on the effect of maternal ZIKV infection in a non-endemic European region. We aimed to describe the outcomes of pregnant travelers diagnosed as ZIKV-infected in Spain, and their exposed children.

Performance of immune-based and microbiological tests in children with tuberculosis meningitis in Europe: a multicentre Paediatric Tuberculosis Network European Trials Group (ptbnet) study.

Introduction: Tuberculous meningitis (TBM) is often diagnostically challenging. Only limited data exist on the performance of interferon-γ release assays (IGRA) and molecular assays in children with TBM in routine clinical practice, particularly in the European setting.

Methods: Multicentre, retrospective study involving 27 healthcare institutions providing care for children with tuberculosis (TB) in nine European countries.

Maternal and Perinatal Outcomes Associated With Extremely High Values for the sFlt-1 (Soluble fms-Like Tyrosine Kinase 1)/PlGF (Placental Growth Factor) Ratio.

Background There is little knowledge about the significance of extremely high values (>655) for the ratio of sFlt-1 (soluble fms-like tyrosine kinase 1) to PlGF (placental growth factor). We aim to describe the time-to-delivery interval and maternal and perinatal outcomes when such values are demonstrated while assessing suspected or confirmed placental dysfunction based on clinical or sonographic criteria. Methods and Results A multicenter retrospective cohort study was performed on 237 singleton gestations between 20+0 and 37+0 weeks included at the time of first demonstrating a sFlt-1/PlGF ratio >655.

Correlation of Kryptor and Elecsys® immunoassay sFlt-1/PlGF ratio on early diagnosis of preeclampsia and fetal growth restriction: A case-control study.

Objectives: The measurement of the soluble fms-like tyrosine kinase-1 to placental growth factor (sFlt-1/PlGF) ratio on automated platforms has improved the detection of preeclampsia and fetal growth restriction (PE/FGR). The cut-off points of >38 and ≥85 has been defined for "rule in" and "aid in diagnosis", respectively, using the Elecsys® platform. We aimed to compare the performance of these cut-offs between the Elecsys® and Kryptor platforms at 24-28 weeks.

Risk, Diagnostic and Predictor Factors for Classical Hodgkin Lymphoma in HIV-1-Infected Individuals: Role of Plasma Exosome-Derived miR-20a and miR-21.

The incidence of classical Hodgkin lymphoma (cHL) in the HIV-1 setting has increased 5-25-fold compared to that observed in the general population. This study aimed to determine whether selected micro RNAs (miRs) and other soluble biomarkers and cellular subsets are dysregulated in cHL and could be used as biomarkers. This was a retrospective and longitudinal matched case-control study of 111 Caucasian, HIV-1-infected adult individuals, including 37 individuals with cHL and 74 with no type of cancer.

Invasive Aspergillosis Due to Aspergillus Section Usti: A Multicenter Retrospective Study.

Background: Aspergillus spp. of section Usti (A. ustus) represent a rare cause of invasive aspergillosis (IA).

Prevention and therapy of viral infections in patients with solid organ transplantation.

Solid organ transplantation (SOT) is the best treatment option for end-stage organ disease. The number of SOT procedures has been steadily increasing worldwide during the past decades. This trend has been accompanied by the continuous incorporation of new antimicrobial drugs and by the refinement of strategies aimed at minimizing the risk of opportunistic infection.

A New Clinical and Immunovirological Score for Predicting the Risk of Late Severe Infection in Solid Organ Transplant Recipients: The CLIV Score.

Background: We aimed at constructing a composite score based on Epstein-Barr virus DNAemia (EBVd) and simple clinical and immunological parameters to predict late severe infection (LI) beyond month 6 in solid organ transplantation (SOT) recipients.

Methods: Kidney and liver transplant recipients between May 2014 and August 2016 at 4 participating centers were included. Serum immunoglobulins and complement factors, peripheral blood lymphocyte subpopulations, and whole blood EBVd were determined at months 1, 3, and 6.

Peripherally inserted central venous catheter placed and maintained by a dedicated nursing team for the administration of antimicrobial therapy vs. another type of catheter: a retrospective case-control study.

Introduction: Data concerning the use of peripherally inserted central catheters (PICC) for the administration of intravenous (IV) antimicrobials in the acute care setting is scarce.

Methods: We performed a single-center retrospective case-control study (1:1). Case subjects were defined as patients who received IV antimicrobial treatment through a PICC line placed and maintained by specifically trained nurses (PICC group).

Angiogenesis biomarkers for the prediction of severe adverse outcomes in late-preterm preeclampsia.

Objectives: The optimal timing for delivery in non-severe late-preterm (34 + 0-36 + 6 weeks) preeclampsia (PE) is uncertain. It is attempted to reach term pregnancy safely but current clinical and analytical parameters fail to determine which cases will develop severe features that require preterm delivery. We aim to establish if angiogenic biomarkers may identify cases that would benefit from earlier delivery.