Erector spinae plane block for obstetric analgesia in a patient with factor XI deficiency: a case report.

Factor XI (FXI) deficiency is a rare bleeding disorder characterized by a quantitative or qualitative deficiency of FXI. The symptoms are highly variable, and the severity and site of bleeding is unpredictable and does not necessarily correlate with FXI levels. FXI deficiency is classified by phenotype: bleeding or non-bleeding, depending on the clinical manifestations.

Assessment of cystic fibrosis related liver disease in a pediatric cohort.

Background: Cystic fibrosis (CF) is an autosomal recessive, chronic, potentially lethal genetic disease. CF manifestations are due to mutations in the CF transmembrane receptor transporter (CFTR) gene which codes for a protein (CFTR) that acts as an anion transporter, mainly chlorine, at epithelial cells where it is expressed. Cystic fibrosis related liver disease (CFRLD) includes a spectrum of hepatobiliary manifestations whose diagnosis and follow-up remains a challenge.

Pregnancy outcomes with the pregestational use of Minimed 780G compared to Minimed 640G: findings from a multicenter cohort study.

Aim: To compare glycemic control and maternal-fetal outcomes of women with type 1 diabetes (T1D) using Minimed™ 780G (MM780G) with those women using Minimed™ 640G (MM640G) since before pregnancy.

Methods: Multicenter prospective cohort study of pregnant women with T1D in Spain. We evaluated HbA1c, time spent within (TIRp), below (TBRp) and above (TARp) the pregnancy-specific glucose range 3.

Ecological study to estimate the prevalence of patients with acid sphingomyelinase deficiency in Spain. PREVASMD study.

Background And Objective: Prevalence studies of acid sphingomyelinase deficiency (ASMD) are scarce and different in Spain. The objective of the present study was to determine the estimated prevalence of patients diagnosed with ASMD (types A/B and B) in Spain.

Material And Methods: PREVASMD was a descriptive, multicenter, and ecological study involving 21 physicians from different specialties (mainly Internal Medicine, Paediatrics and Hematology), of different autonomous communities, with experience in ASMD management.

Polymorphisms of the Vitamin D Binding Protein (VDBP) and Free Vitamin D in Patients with Cystic Fibrosis.

Objectives/background: Vitamin D-binding protein (VDBP) and free vitamin D are new markers that are being studied as a possible markers of vitamin D status. The main aim of our study was to analyze the VDBP genotype and quantify the levels of free vitamin D in a sample of cystic fibrosis (CF) patients.

Methods: We conducted a multicenter, cross-sectional, and prospective study including patients with CF and exocrine pancreatic insufficiency who were clinically stable.

Risk Factors for Chronic Kidney Disease in Adult Patients with Congenital Heart Disease and Its Relationship with Cardiovascular Mortality.

: Patients with congenital heart disease (CHD) show risk factors for chronic kidney disease (CKD) and it is well known that CKD has a large negative impact on survival. : Observational and prospective cohort study. Adult CHD patients and controls were matched for age and sex.

Debris Embolization to the Lung After a Bioprosthetic (Mitroflow®) Valve Fracture.

This case report shows a valve in valve procedure in pulmonary position of a 19-year-old male with a repaired Tetralogy of Fallot. After initial correction, a Mitroflow 23 mm bioprosthetic valve was implanted in pulmonary position. Nine years later severe degeneration of the valve occurred.

Different Mutational Profiles of Subcutaneous Panniculitis-like T-cell Lymphoma and Lupus Panniculitis: An Additional Case Series.

Background: Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic T-cell lymphoma with indolent behavior, mostly present in women and associated with immunological diseases whose pathogenic background is still poorly understood. SPTCL is associated with lupus erythematosus panniculitis (LEP) and histologically misdiagnosed.

Objectives: The aim of our study was to identify mutations affecting the pathogenesis of both SPTCL and LEP.

[Bacteremia due to strict anaerobes].

Objective: Anaerobic bacteremia represents 0.5-12% of all bacteremias and its mortality is high, ranging from 25-44%. The aim was to know our data to compare them with existing data and demonstrate the importance of actively searching for these microorganisms in blood culture samples.

Homozygous familial hypercholesterolemia in Spain. Data from Registry of the Spanish Atherosclerosis Society.

Unlabelled: Homozygous familial hypercholesterolemia (HoFH) is a rare disease characterized by the presence of two pathogenic variants in the LDLR, APOB, PCSK9 or LDLRAP1 genes, which cause very high levels of LDL cholesterol and premature atherosclerotic cardiovascular disease (ASCVD).The objective of this study is to analyze the current situation regarding diagnosis, cardiovascular disease, lipid-lowering treatment and degree of control of lipids in patients with HoFH in the National Dyslipidemia Registry of the Spanish Atherosclerosis Society.

Methods: Subjects with HoFH, confirmed by the presence of two pathogenic variants in the genes mentioned above, included in the registry from 2013 to June 2023 with an updated review were analyzed.

Assessing the hidden dangers of volcanic CO exposure: a critical review of health impacts.

Volcanic eruptions pose significant health risks to inhabitants of affected regions, with volcanic gases, including carbon dioxide (CO), being a notable concern. This review examines the implications of long-term exposure to volcanic CO emissions on public health, highlighting the shift in understanding from acute to chronic health effects. Recent studies have underscored the need to reevaluate the adverse health impacts of CO beyond acute toxicity symptoms.

High-risk pediatric medications: A listing proposal by interdisciplinary consensus technique.

Introduction: Pediatric patients are more likely to experience medication-related errors and serious associated harms. The identification of high-risk medications (HRM) and their study in special populations, such as children with excess body weight, is a part of safety improvement strategies.

Objective: To generate, through a consensus technique structured by an interdisciplinary group of pediatricians and hospital pharmacists, an operational and updated list of HRM for hospital use in children over 2 years of age.

Cognitive processing speed improvement after cochlear implantation.

Background: Untreated hearing loss has an effect on cognition. It is hypothesized that the additional processing required to compensate for the sensory loss affects the cognitive resources available for other tasks and that this could be mitigated by a hearing device.

Methods: The impact on cognition of cochlear implants (CIs) was tested in 100 subjects, ≥60 years old, with bilateral moderately-severe to profound post linguistic deafness using hearing aids.

PCSK9 inhibitors on the management of primary and secondary cardiovascular prevention.

Background: Proprotein convertase subtilisin/kexin type 9 inhibitors (PCSK9i) have represented an important change in the management of hypercholesterolemia, although, until now, they have barely been used. Without PCSK9i, many patients with atherosclerotic cardiovascular disease (CVD) or those at very high risk do not reach their therapeutic LDLc objectives.

Objective: The analysis aimed to examine the clinical and biochemical characteristics of subjects receiving PCSK9i treatment in the Dyslipidemia Registry of the Spanish Atherosclerosis Society.

Does HLA explain the high incidence of childhood-onset type 1 diabetes in the Canary Islands? The role of Asp57 DQB1 molecules.

Unlabelled: The Canary Islands inhabitants, a recently admixed population with significant North African genetic influence, has the highest incidence of childhood-onset type 1 diabetes (T1D) in Spain and one of the highest in Europe. HLA accounts for half of the genetic risk of T1D.

Aims: To characterize the classical HLA-DRB1 and HLA-DQB1 alleles in children from Gran Canaria with and without T1D.

CaMKII protein expression and phosphorylation in human skeletal muscle by immunoblotting: Isoform specificity.

Calcium (Ca)/calmodulin-dependent protein kinase II (CaMKII) is activated during exercise by reactive oxygen species (ROS) and Ca transients initiating muscle contraction. CaMKII modulates antioxidant, inflammatory, metabolic and autophagy signalling pathways. CaMKII is coded by four homologous genes (α, β, γ, and δ).

Reproductive and pregnancy control in Wilson disease patients in Spain.

Background And Aim: Recommendations on pregnancy, lactation, and contraception in women with Wilson disease are briefly stated in international guidelines but are not entirely homogeneous. Data regarding the management of these special events among patients with Wilson disease in Spain are lacking. We used the Wilson Registry platform of the Spanish Association for the Study of the Liver to question patients on their reproductive and gestational lives.