Bridging Genetic Insights with Neuroimaging in Autism Spectrum Disorder-A Systematic Review.

Autism Spectrum Disorder (ASD) is an early onset neurodevelopmental disorder characterized by impaired social interaction and communication, and repetitive patterns of behavior. Family studies show that ASD is highly heritable, and hundreds of genes have previously been implicated in the disorder; however, the etiology is still not fully clear. Brain imaging and electroencephalography (EEG) are key techniques that study alterations in brain structure and function.

Neuroleptic Malignant Syndrome: An Intensive Care Unit Case of Exceptionally High Creatinine Kinase and Myoglobin Levels.

Neuroleptic Malignant Syndrome (NMS) is a rare, life-threatening neurologic emergency known to be related to the administration or sudden withdrawal of dopaminergic medications. The clinical course, symptoms, and bloodwork are very heterogeneous, making this syndrome difficult to identify. Thus, NMS is a diagnosis of exclusion.

Retinal Metastases as the Initial Presentation of Advanced Lung Adenocarcinoma.

Introduction: Most lung cancers are diagnosed at an advanced stage. Common metastatic sites include the brain, bone, liver and adrenal glands. Ocular metastases, however, are extremely rare.

Identification of Neurotransmission and Synaptic Biological Processes Disrupted in Autism Spectrum Disorder Using Interaction Networks and Community Detection Analysis.

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by communication deficits and repetitive behavioral patterns. Hundreds of candidate genes have been implicated in ASD, including neurotransmission and synaptic (NS) genes; however, the genetic architecture of this disease is far from clear. In this study, we seek to clarify the biological processes affected by NS gene variants identified in individuals with ASD and the global networks that link those processes together.

In situ generation of highly localized chlorine by laser-induced graphene electrodes during electrochemical disinfection.

Laser-induced graphene (LIG) has gained popularity for electrochemical water disinfection due to its efficient antimicrobial activity when activated with low voltages. However, the antimicrobial mechanism of LIG electrodes is not yet fully understood. This study demonstrated an array of mechanisms working synergistically to inactivate bacteria during electrochemical treatment using LIG electrodes, including the generation of oxidants, changes in pH-specifically high alkalinity associated with the cathode, and electro-adsorption on the electrodes.

Antimicrobial resistance monitoring in the Danish swine production by phenotypic methods and metagenomics from 1999 to 2018.

BackgroundIn Denmark, antimicrobial resistance (AMR) in pigs has been monitored since 1995 by phenotypic approaches using the same indicator bacteria. Emerging methodologies, such as metagenomics, may allow novel surveillance ways.AimThis study aimed to assess the relevance of indicator bacteria ( and ) for AMR surveillance in pigs, and the utility of metagenomics.

Disease similarity network analysis of Autism Spectrum Disorder and comorbid brain disorders.

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder with heterogeneous clinical presentation, variable severity, and multiple comorbidities. A complex underlying genetic architecture matches the clinical heterogeneity, and evidence indicates that several co-occurring brain disorders share a genetic component with ASD. In this study, we established a genetic similarity disease network approach to explore the shared genetics between ASD and frequent comorbid brain diseases (and subtypes), namely Intellectual Disability, Attention-Deficit/Hyperactivity Disorder, and Epilepsy, as well as other rarely co-occurring neuropsychiatric conditions in the Schizophrenia and Bipolar Disease spectrum.

A Role for Gene-Environment Interactions in Autism Spectrum Disorder Is Supported by Variants in Genes Regulating the Effects of Exposure to Xenobiotics.

Heritability estimates support the contribution of genetics and the environment to the etiology of Autism Spectrum Disorder (ASD), but a role for gene-environment interactions is insufficiently explored. Genes involved in detoxification pathways and physiological permeability barriers (e.g.

Gene Variants Involved in Nonsense-Mediated mRNA Decay Suggest a Role in Autism Spectrum Disorder.

Autism Spectrum Disorder (ASD) is a heterogeneous neurodevelopmental condition with unclear etiology. Many genes have been associated with ASD risk, but the underlying mechanisms are still poorly understood. An important post-transcriptional regulatory mechanism that plays an essential role during neurodevelopment, the Nonsense-Mediated mRNA Decay (NMD) pathway, may contribute to ASD risk.

Identification of biological mechanisms underlying a multidimensional ASD phenotype using machine learning.

The complex genetic architecture of Autism Spectrum Disorder (ASD) and its heterogeneous phenotype makes molecular diagnosis and patient prognosis challenging tasks. To establish more precise genotype-phenotype correlations in ASD, we developed a novel machine-learning integrative approach, which seeks to delineate associations between patients' clinical profiles and disrupted biological processes, inferred from their copy number variants (CNVs) that span brain genes. Clustering analysis of the relevant clinical measures from 2446 ASD cases in the Autism Genome Project identified two distinct phenotypic subgroups.

Clinical insights gained by refining the 2016 WHO classification of diffuse gliomas with: EGFR amplification, TERT mutations, PTEN deletion and MGMT methylation.

Background: Significant advances in the molecular profiling of gliomas, led the 2016 World Health Organization (WHO) Classification to include, for the first-time, molecular biomarkers in glioma diagnosis: IDH mutations and 1p/19q codeletion. Here, we evaluated the effect of this new classification in the stratification of gliomas previously diagnosed according to 2007 WHO classification. Then, we also analyzed the impact of TERT promoter mutations, PTEN deletion, EGFR amplification and MGMT promoter methylation in diagnosis, prognosis and response to therapy in glioma molecular subgroup.

Nonbacterial thrombotic endocarditis.

An 83-year-old woman with a 10-year history of rheumatoid arthritis was admitted for urinary tract infection with exacerbation of chronic kidney disease and decompensated heart failure of unknown etiology. Transesophageal echocardiography (TEE) showed a vegetation involving the posterior mitral valve leaflet, and a hypothesis of infective endocarditis was proposed. Empirical antibiotic therapy was initiated.

Identification of Sindhi cows that are susceptible or resistant to Haematobia irritans.

To identify susceptible and resistant Haematobia irritans cows, horn flies were counted biweekly for 3 years in a herd of 25 Sindhi cows. Repeated measures linear mixed models were created including cow as a random factor. The results were analyzed by: 1) observing horn fly counts, considering fly-susceptible cows with infestations appearing in the upper quartile more than 50% of the weeks and in the lower quartile less than 20% of the weeks, and fly-resistant cows those that the number of flies was in the lower quartile more than 50% of the weeks and in the upper quartile less than 20%; 2) by the best linear unbiased predictions (BLUPs), to evaluate the cow effect on fly counts.

Time-series clustering of cage-level sea lice data.

Sea lice Lepeophtheirus salmonis (Krøyer) are a major ectoparasite affecting farmed Atlantic salmon in most major salmon producing regions. Substantial resources are applied to sea lice control and the development of new technologies towards this end. Identifying and understanding how sea lice population patterns vary among cages on a salmon farm can be an important step in the design and analysis of any sea lice control strategy.

Genetics of personalized medicine: cancer and rare diseases.

The 21st annual meeting of the Portuguese Society of Human Genetics (SPGH), organized by Luísa Romão, Ana Sousa and Rosário Pinto Leite, was held in Caparica, Portugal, from the 16th to the 18th of November 2017. Having entered an era in which personalized medicine is emerging as a paradigm for disease diagnosis, treatment and prevention, the program of this meeting intended to include lectures by leading national and international scientists presenting exceptional findings on the genetics of personalized medicine. Various topics were discussed, including cancer genetics, transcriptome dynamics and novel therapeutics for cancers and rare disorders that are designed to specifically target molecular alterations in individual patients.

Liquid chromatography high resolution mass spectrometry for the determination of baclofen and its metabolites in plasma: Application to therapeutic drug monitoring.

Baclofen is used to manage alcohol dependence. This study describes a simple method using liquid chromatography coupled to high-resolution mass spectrometry (LC-HR-MS) developed in plasma samples. This method was optimized to allow quantification of baclofen and determination of metabolic ratio of its metabolites, an oxidative deaminated metabolite of baclofen (M1) and its glucuronide form (M2).

Design and prospective evaluation of a risk-based surveillance system for shrimp grow-out farms in northeast Brazil.

The farming of Pacific white shrimp Litopennaeus vannamei in northeast Brazil, has proven to be a promising sector. However, the farming of Pacific white shrimp in Brazil has been affected negatively by the occurrence of viral diseases, threatening this sector's expansion and sustainability. For this reason, the drafting of a surveillance system for early detection and definition of freedom from viral diseases, whose occurrence could result in high economic loses, is of the utmost importance.

Inhibition of nitric oxide-stimulated vasorelaxation by carbon monoxide-releasing molecules.

Objective: Carbon monoxide (CO) is a weak soluble guanylyl cyclase stimulator, leading to transient increases in cGMP and vasodilation. The aim of the present work was to measure the effect of CO-releasing molecules (CORMs) on the cGMP/nitric oxide (NO) pathway and to evaluate how selected CORMs affect NO-induced vasorelaxation.

Methods And Results: Incubation of smooth muscle cells with some but not all of the CORMs caused a minor increase in cGMP levels.

Detection of human mammaglobin mRNA in serial peripheral blood samples from patients with non-metastatic breast cancer is not predictive of disease recurrence.

Introduction: Human mammaglobin (hMAM) mRNA is a sensitive and specific marker of breast cancer cells. We evaluated if hMAM mRNA detection in serial peripheral blood samples from non-metastatic breast cancer patients predicts for disease recurrence.

Methods: Patients scheduled for adjuvant or neoadjuvant chemotherapy were eligible.

Biochemical characterization and phylogenetic analysis of UDP-glucose dehydrogenase from the gellan gum producer Sphingomonas elodea ATCC 31461.

Sphingomonas elodea ATCC 31461 synthesizes in high yield the exopolysaccharide gellan, which is a water-soluble gelling agent with many applications. In this study, we describe the cloning and sequence analysis of the ugdG gene, encoding a UDP-glucose dehydrogenase (47.2 kDa; UDPG-DH; EC 1.

Aneuploidy and RAS mutations are mutually exclusive events in the development of well-differentiated thyroid follicular tumours.

Objective: Follicular thyroid tumours present several genetic alterations such as aneuploidy, RAS mutations and PAX8/PPARgammarearrangements. The molecular basis of aneuploidy remains undefined in the majority of human cancers. It has been proposed that mutations in RAS oncogenes could be related to chromosomal instability, although this issue remains controversial.

Proteins encoded by Sphingomonas elodea ATCC 31461 rmlA and ugpG genes, involved in gellan gum biosynthesis, exhibit both dTDP- and UDP-glucose pyrophosphorylase activities.

The commercial gelling agent gellan is a heteropolysaccharide produced by Sphingomonas elodea ATCC 31461. In this work, we carried out the biochemical characterization of the enzyme encoded by the first gene (rmlA) of the rml 4-gene cluster present in the 18-gene cluster required for gellan biosynthesis (gel cluster). Based on sequence homology, the putative rml operon is presumably involved in the biosynthesis of dTDP-rhamnose, the sugar necessary for the incorporation of rhamnose in the gellan repeating unit.

Metastatic follicular carcinoma associated with hyperthyroidism.

Purpose: A 68-year-old man with metastatic follicular thyroid carcinoma had T3 hyperthyroidism.

Material And Methods: A bone scan showed intense uptake in the thyroid and multiple areas of increased uptake in the skeleton. Hyperthyroidism persisted after total thyroidectomy.