The Clinical Features of Comorbid Pediatric Bipolar Disorder in Children with Autism Spectrum Disorder

The aim of this study was to describe clinical features of PBD comorbidity in children with ASD. Forty children with ASD and PBD aged 6–18 years, and 40 age- and sex-matched ASD subjects with no affective episodes were included in the study. Autism Behavior CheckList, Abberant Behavior CheckList, and Young Mania Rating Scale-Parent Version were completed. This study shows that PBD comorbidity in children with ASD involves a highly episodic course, with manic episodes, subsyndromal symptoms and interepisodic periods commonly being described in the manic symptom profile of these children. These findings need to be repeated with large samples, together with controlled studies concerning therapeutic interventions directed toward PBD comorbidity in children with ASD.     

Application of Rhenium-186 Radiosynovectomy in Elbow Diffuse Pigmented Villonodular Synovitis. - A Case Report with Multiple Joint Involvement

After surgical therapy of diffuse pigmented villonodular synovitis (DPVNS), recurrence is seen in almost half of the patients. The effectiveness of radiosynovectomy (RSV) in preventing recurrence and complaints of DPVNS is well known. Elbow involvement in DPVNS is a very rare condition; therefore, RSV in elbow hasn’t been experienced widely. The aim of this case report is to show the effectiveness of RSV with rhenium-186 (Re-186) sulfide colloid. We applied Re-186 sulfide colloid to the elbow joint of DPVNS patients six weeks after arthroscopic synovectomy. As a result, the patient did not have any complaints, and our findings are compatible with residue or recurrence on magnetic resonance imaging (MRI) in sixth and twentieth month controls after administration. We concluded that Re-186 is an effective adjuvant therapy for the prevention of recurrence and complaints.     

Human exonuclease 1 and BLM helicase interact to resect DNA and initiate DNA repair

The error-free repair of double-stranded DNA breaks by homologous recombination requires processing of broken ends. These processed ends are substrates for assembly of DNA strand exchange proteins that mediate DNA strand invasion. Here, we establish that human BLM helicase, a member of the RecQ family, stimulates the nucleolytic activity of human exonuclease 1 (hExo1), a 5′→3′ double-stranded DNA exonuclease. The stimulation is specific because other RecQ homologs fail to stimulate hExo1. Stimulation of DNA resection by hExo1 is independent of BLM helicase activity and is, instead, mediated by an interaction between the 2 proteins. Finally, we show that DNA ends resected by hExo1 and BLM are used by human Rad51, but not its yeast or bacterial counterparts, to promote homologous DNA pairing. This in vitro system recapitulates initial steps of homologous recombination and provides biochemical evidence for a role of BLM and Exo1 in the initiation of recombinational DNA repair.     

Avaliação de Padrões Pressóricos Dipper e Não-Dipper e Qualidade de Vida entre Pacientes com Doença Pulmonar Obstrutiva Crônica

BackgroundNon-dipper blood pressure is defined by less than a 10% reduction in nighttime blood pressure, and it is associated with cardiovascular disease. Inflammation is thought to play a role in the pathogenesis of both chronic obstructive pulmonary disease (COPD) and non-dipper blood pressure pattern, and both diseases are associated with lower quality of life.ObjectiveThe aim of this study was to investigate the effects of non-dipper blood pressure pattern in patients with COPD.MethodsA cross-sectional study was carried out with 142 patients with COPD. The Saint George Respiratory Questionnaire and the Euro Quality of Life Scale were used to collect data. To understand arterial stiffness, the augmentation index and pulse wave velocity were measured, and 24-hour ambulatory blood pressure monitoring was subsequently performed. A multivariable logistic regression model was used to understand the relationship between different independent variables and blood pressure pattern. P values lower than 0.05 were considered statistically significant.ResultsAs a result, 76.1% (n = 108) of the patients had non-dipper blood pressure pattern. Non-dipper patients had higher C-reactive protein (OR:1.123; 95% CI:1.016;1.242), augmentation index (OR: 1.057; 95% CI: 1.011;1.105) and Saint George Respiratory Questionnaire total score (OR: 1.021; 95% CI: 1.001;1.042) than dipper patients. Also, as the number of people living at home increased, non-dipper blood pressure pattern was found to be more frequent (OR: 1.339; 95% CI: 1.009;1.777).ConclusionNon-dipper blood pressure pattern may increase cardiovascular risk by triggering inflammation and may adversely affect the prognosis of COPD by lowering the disease-related quality of life. (Arq Bras Cardiol. 2020; [online].ahead print, PP.0-0)     

A novel ITGB2 variant with long survival in patients with leukocyte adhesion defect type-I

Leukocyte adhesion deficiency is an autosomal recessive primary immunodeficiency that has been divided into three types: LAD1 (beta-2 integrin (CD18) family deficiency/defect), LAD2 (absence of fucosylated carbonhydrate ligands for selectins) and LAD3 (defective activation of all beta integrins). However, recently LAD4 has been described in cystic fibrosis patients, with a defect in integrin activation reported in monocytes. LAD-I is the most common type and prevalence of 1 in 1,000,000 live births. Clinical features of LAD patients are recurrent bacterial and fungal infections, omphalitis with delayed umbilical stump separation, significant leukocytosis especially neutrophilia during infection periods, impaired pus formation, and delayed traumatic or surgical wound healing. Flow cytometry is considered a useful tool for rapid diagnosis of the disease. The study of CD18 and CD11 (a, b, c) expression patterns in peripheral blood leukocytes helps to distinguish different phenotypes of LAD-I. In general, patients with ≥ 2% CD18 expression tend to have a less severe infection and often survive until adulthood, whereas < 2% CD18 expression often results in death in infancy. In this case report, three siblings, 10, 15, and 17 years old, diagnosed with leukocyte adhesion defect type 1 in adolescence age group, are presented.