Cardiac damage in hypertensive patients with inverse white coat hypertension. Hospitalet study

BACKGROUND: Few studies have assessed the relationship between ambulatory blood pressure (BP) and cardiac damage in essential hypertensive patients with inverse white coat hypertension (IWCH). OBJECTIVES: To determine the frequency of IWCH in untreated grade 1-2 hypertension and to assess possible differences in cardiac damage among patients with IWCH, white coat hypertension (WCH) and the rest of patients with grade 1-2 hypertension. PATIENTS AND METHODS: Two hundred and eleven patients with grade 1-2 hypertension were sequentially included. A good quality 24-h ambulatory BP monitoring was obtained in 204 patients (age: 41 +/- 12 years, 56% males). IWCH was defined as a daytime systolic and/or diastolic BP higher than diagnostic office systolic and/or diastolic BP, respectively. WCH was defined as a daytime BP < 135/85 mmHg. A good quality echocardiogram was obtained in 174 patients. We considered left ventricular hypertrophy a left ventricular mass index (LVMI) > or = 125 g/m2. RESULTS: We found IWCH in 29 subjects (14%), and WCH in 68 (33%). Office BP in patients with IWCH was in an intermediate position between WCH and the rest of grade 1-2 hypertension patients. The IWCH patients showed 24-h, daytime and night-time BP higher than the other groups. Left ventricular mass was significantly greater in patients with IWCH than in the other grade 1-2 hypertension patients after adjusting for age, gender, body mass index, smoking and office BP (regression coefficient 28.14, 95%CI: 7.36-48.91). CONCLUSION: IWCH is independently associated with higher values of left ventricular mass in patients with grade 1-2 hypertension.     

Anomalies of the urinary tract associated with congenital heart diseases

Due to the frequent association of congenital heart disease and urinary tract malformations we studied 434 patients undergoing angiocardiograms for diagnosis of their congenital heart disease. In every patient a plain abdominal X-ray film was made in order to observe urinary elimination of the contrast material. We found 70 patients with urinary tract malformations, the most frequent of which was pyelo-chaliceal dilatation, accounting for 47.1% of all the malformations found. A double pyelo-chaliceal system was found in 25.7%, kidney hypoplasia in 10% and in lower frequencies double urethers, kidney agenesia, pelvic kidneys, horseshoe-shaped kidney and others. Patients were usually urologically asymptomatic. In view of the frequent association of congenital heart disease and urinary tract malformations a plain abdominal X-ray film should always be performed postangiographically. In some cases a contrast urography is recommended.     

Sphingolipid signalling and liver diseases.

Sphingolipids (SLs) comprise a class of lipids with important structural functions and increasing relevance in cellular signalling. In particular, ceramide has attracted considerable attention owing to its role as a second messenger modulating several cell functions such as proliferation, gene expression, differentiation, cell cycle arrest and cell death. Increasing evidence documents the role of SLs in stress and death ligand-induced hepatocellular death, which contributes to the progression of several liver diseases including steatohepatitis, ischaemia-reperfusion liver injury or hepatocarcinogenesis. Furthermore, recent data indicate that the accumulation of SLs in specific cell subcompartments, characteristic of many sphingolipidoses, contributes to the hepatic dysfunctions that accompany these inherited diseases. Hence, the regulation of the cell biology and metabolism of SLs may open up a novel therapeutic avenue in the treatment of liver diseases.     

Composition of the HLA‐DR‐associated human thymus peptidome

Major histocompatibility complex class II (MHC‐II) molecules bind to and display antigenic peptides on the surface of antigen‐presenting cells (APCs). In the absence of infection, MHC‐II molecules on APCs present self‐peptides and interact with CD4⁺ T cells to maintain tolerance and homeostasis. In the thymus, self‐peptides bind to MHC‐II molecules expressed by defined populations of APCs specialised for the different steps of T‐cell selection. Cortical epithelial cells present peptides for positive selection, whereas medullary epithelial cells and dendritic cells are responsible for peptide presentation for negative selection. However, few data are available on the peptides presented by MHC molecules in the thymus. Here, we apply mass spectrometry to analyse and identify MHC‐II‐associated peptides from five fresh human thymus samples. The data show a diverse self‐peptide repertoire, mostly consisting of predicted MHC‐II high binders. Despite technical limitations preventing single cell population analyses of peptides, these data constitute the first direct assessment of the HLA‐II‐bound peptidome and provide insight into how this peptidome is generated and how it drives T‐cell repertoire formation.     

SENSE OF COMMUNITY AND SATISFACTION WITH LIFE AMONG IMMIGRANTS AND THE NATIVE POPULATION

The aim of this study was to analyze the influence of the sense of community (SOC) on satisfaction with life (SWL) in native and immigrant populations in Spain. The main hypothesis was that SOC would moderate the negative effects associated with the immigrant adaptation process. It was further hypothesized that there would be no differences in SWL between immigrants with a high SOC and the native population. The study included 1,646 participants living in Malaga (Spain), comprising 946 natives and 700 immigrants. Data were collected using random route sampling and survey methodology. The results showed that people with higher SOC had significantly greater SWL. It was also found that SWL was greater in natives than in immigrants when the level of SOC was low or medium. However, when SOC was high there were no significant differences between the groups in SWL. The data support the hypothesis that SOC acts as a moderating variable that buffers the effect of the adaptation process experienced by immigrants.     

FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability

Chromosome 1q41‐q42 deletion syndrome is a rare cause of intellectual disability, seizures, dysmorphology, and multiple anomalies. Two genes in the 1q41‐q42 microdeletion, WDR26 and FBXO28, have been implicated in monogenic disease. Patients with WDR26 encephalopathy overlap clinically with those with 1q41‐q42 deletion syndrome, whereas only one patient with FBXO28 encephalopathy has been described. Seizures are a prominent feature of 1q41‐q42 deletion syndrome; therefore, we hypothesized that pathogenic FBXO28 variants cause developmental and epileptic encephalopathies (DEEs). We describe nine new patients with FBXO28 pathogenic variants (four missense, including one recurrent, three nonsense, and one frameshift) and analyze all 10 known cases to delineate the phenotypic spectrum. All patients had epilepsy and 9 of 10 had DEE, including infantile spasms (3) and a progressive myoclonic epilepsy (1). Median age at seizure onset was 22.5 months (range 8 months to 5 years). Nine of 10 patients had intellectual disability, which was profound in six of nine and severe in three of nine. Movement disorders occurred in eight of 10 patients, six of 10 had hypotonia, four of 10 had acquired microcephaly, and five of 10 had dysmorphic features, albeit different to those typically seen in 1q41‐q42 deletion syndrome and WDR26 encephalopathy. We distinguish FBXO28 encephalopathy from both of these disorders with more severe intellectual impairment, drug‐resistant epilepsy, and hyperkinetic movement disorders.     

Correction to: Bumetanide Oral Liquid Formulation for the Treatment of Children and Adolescents with Autism Spectrum Disorder: Design of Two Phase III Studies (SIGN Trials)

Journal of Autism and Developmental Disorders - The author of the article would like to add a video abstract as a supplementary material for a published article. The supplementary file is published...     

Prevención de ictus en pacientes con diabetes mellitus tipo 2 o prediabetes. Recomendaciones del Grupo de Estudio de Enfermedades Cerebrovasculares de la Sociedad Española de Neurología

ObjectiveTo update the Spanish Society of Neurology's guidelines for stroke prevention in patients with type 2 diabetes or prediabetes, analysing the available evidence on the effect of metabolic control and the potential benefit of antidiabetic drugs with known vascular benefits in addition to conventional antidiabetic treatments in stroke prevention.DevelopmentPICO-type questions (Patient, Intervention, Comparison, Outcome) were developed to identify practical issues in the management of stroke patients and to establish specific recommendations for each of them. Subsequently, we conducted systematic reviews of the PubMed database and selected those randomised clinical trials evaluating stroke as an independent variable (primary or secondary). Finally, for each of the PICO questions we developed a meta-analysis to support the final recommendations.ConclusionsWhile there is no evidence that metabolic control reduces the risk of stroke, some families of antidiabetic drugs with vascular benefits have been shown to reduce these effects when added to conventional treatments, both in the field of primary prevention in patients presenting type 2 diabetes and high vascular risk or established atherosclerosis (GLP-1 agonists) and in secondary stroke prevention in patients with type 2 diabetes or prediabetes (pioglitazone).     

Incidental lipoma-like hibernoma arising from the adrenal gland: A well-differentiated liposarcoma mimicker

Hibernomas are uncommon benign lipomatous tumors which show differentiation toward brown fat. To our knowledge, only one case of adrenal hibernoma has been previously reported. We describe a 55-year-old woman showing an incidental, 1.7 cm-hibernoma associated with a 2.6 cm-cortical adenoma producing primary hyperaldosteronism (Conn's syndrome), both in the left adrenal gland. The hibernoma was composed predominantly of univacuolated mature fat cells admixed with small vessels. Scattered areas composed of large multivacuolated pale cells with central or paracentral nuclei, mimicking lipoblasts, accounting for less than 30% of the tumor, were found. These cells lacked nuclear hyperchromasia or marked atypia, were S100-positive, and showed numerous mitochondria reactive with the anti-mitochondrial antibody. A diagnosis of lipoma-like hibernoma was made. Pathologists should be aware of this variant of hibernoma to avoid misdiagnosis and excessive treatment.     

Sound production,hearing sensitivity,and in-depth study of the sound-producing muscles in the cowfish (Lactoria cornuta)

The ability to produce sounds has been reported in various Ostraciidae but not deeply studied. In some Ostracion species, two different sound-producing muscles allow these boxfishes to produce two different kinds of sounds in a sequence. This study investigates sound production in another Indo-Pacific species, the longhorn cowfish Lactoria cornuta that also possesses two pairs of sonic muscles associated with the swim bladder: extrinsic sonic muscles (ESMs) and intrinsic sonic muscles (ISMs). The cowfish produces two kinds of sounds called hums and clicks. Hums are made of trains of low amplitude pulses that last for long periods of time, suggesting that they are produced by fatigue-resistant muscles, whereas clicks correspond to shorter sounds with greater amplitude than the hums, suggesting that they result from more powerful contractions. Ultra-structural differences are found between extrinsic and intrinsic sonic muscles. According to features such as long sarcomeres, long I-bands, a high number of mitochondria, and a proliferation of sarcoplasmic reticulum (SR), ESMs would be able to produce fast, strong, and short contractions corresponding to clicks (the shortest sounds with the greatest amplitude). ISMs have the thinnest cells, the smallest number of myofilaments that have long I-bands, the highest volume of mitochondria, and well-developed SR supporting these muscles; these features should generate fast and prolonged contractions that could correspond to the hums that can be produced over long periods of time. A concluding figure shows clear comparisons of the different fibers that were studied in L. cornuta. This study also compared the call features of each sound with the cowfish's hearing ability and supports L. cornuta was more sensitive to frequencies ranging between at least 100 and 400 Hz with thresholds of 128–143 dB re 1 µPa over this range, meaning that they are sensitive to the frequencies produced by conspecifics.