Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker Exchange and three previously reported), and four individuals with chromosome 7q22.2-22.23 microdeletions encompassing KMT2E (one previously reported). Almost all variants occurred de novo, and most were truncating. Most affected individuals with protein-truncating variants presented with mild intellectual disability. One-quarter of individuals met criteria for autism. Additional common features include macrocephaly, hypotonia, functional gastrointestinal abnormalities, and a subtle facial gestalt. Epilepsy was present in about one-fifth of individuals with truncating variants and was responsive to treatment with anti-epileptic medications in almost all. More than 70% of the individuals were male, and expressivity was variable by sex; epilepsy was more common in females and autism more common in males. The four individuals with microdeletions encompassing KMT2E generally presented similarly to those with truncating variants, but the degree of developmental delay was greater. The group of four individuals with missense variants in KMT2E presented with the most severe developmental delays. Epilepsy was present in all individuals with missense variants, often manifesting as treatment-resistant infantile epileptic encephalopathy. Microcephaly was also common in this group. Haploinsufficiency versus gain-of-function or dominant-negative effects specific to these missense variants in KMT2E might explain this divergence in phenotype, but requires independent validation. Disruptive variants in KMT2E are an under-recognized cause of neurodevelopmental abnormalities

Frequency, serotyping and antimicrobial resistance pattern of Salmonella from feces and lymph nodes of pigs

ABSTRACT: Salmonellosis is a foodborne disease caused by bacteria of the genus Salmonella, being pigs and pork-products potentially important for its occurrence. In recent decades, some serovars of Salmonella have shown increase of resistance to conventional antimicrobials used in human and animal therapy, with serious risks for public health. The aim of this study was to evaluate feces (n=50), mediastinal (n=50), mesenteric (n=50) and mandibular (n=50) lymph nodes obtained from slaughter houses for Salmonella spp. Positive samples were serotyped and subjected to an in vitro antimicrobial susceptibility test, including the extended-spectrum beta-lactamase (ESBL) production. Salmonella species were identified in 10% (20/200) of total samples. From these, 20% (10/50) were identified in the submandibular lymph nodes, 18% (9/50) in the mesenteric lymph nodes, 2% (1/50) in feces and 0% (0/50) in the mediastinal lymph nodes. The serotypes found were Salonella Typhimurium (55%), S. enterica subsp. enterica 4,5,12: i: - (35%), S. Brandenburg and S. Derby with 5% (5% each). All strains showed resistance to at least one antimicrobial; 90% were resistant to four or more antimicrobials, and 15% were multidrug-resistant. Resistance to ciprofloxacin, tetracycline and nalidixic acid was particularly prevalent amongst the tested serovars. Here, we highlighted the impact of pigs in the epidemiological chain of salmonellosis in domestic animals and humans, as well as the high antimicrobial resistance rates of Salmonella strains, reinforcing the necessity for responsible use of antimicrobials for animals as an emergent One Health issue, and to keep these drugs for human therapy approaches

Citologia aspirativa no diagnóstico da linfadenite em ovinos

O presente estudo investigou o uso da cito-(73,0%), Arcanobacterium pyogenes (6,0%), Streptococlogia aspirativa com agulha fina no diagnóstico da lin-cus spp. β hemolítico (5,0%) e Escherichia coli (4,0%) fadenite em ovinos e a ocorrência de microrganismos foram os microrganismos mais frequentes nos animais nos linfonodos com lesões, com ênfase no isolamento de com linfadenite. Streptococcus spp. (21,0%) e Staphylo-Corynebacterium pseudotuberculosis. Foram utilizados coccus spp. (7,0%) foram as bactérias isoladas com 100 linfonodos de ovinos com aumento de volume su-maior frequência nos linfonodos sem lesões colhidos em gestivos de linfadenite e 100 linfonodos de ovinos sem abatedouro. A punção aspirativa com agulha fina perlesões, colhidos em abatedouro. C. pseudotuberculosis mitiu identificar microrganismos "corineformes" em 79 (79,0%) animais com linfadenite e, destes, 73 (73,0%) foram identificados como C. pseudotuberculosis. Nenhuma linhagem de C. pseudotuberculosis foi isolada dos linfonodos dos animais sem lesões. Concluiu-se que C. pseudotuberculosis foi o microrganismo mais freqüente nos ovinos com linfadenite, e que a citologia aspirativa pode ser utilizada como método de triagem no diagnóstico da linfadenite caseosa ovin