The first case of cholecytitis caused by Aggregatibacter kilianii in Korea.

Background: The bacterial genus Aggregatibacter was categorized in 2006 to accommodate the former Actinobacillus actinomycetemcomitans, Haemophilus aphrophilus, and H. segnis species. Aggregatibacter kilianii is a normal resident of the human upper respiratory tract but can also cause serious infections.

Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene.

Background: Neurodegeneration with brain iron accumulation describes a group of rare heterogeneous progressive neurodegenerative disorders characterized by excessive iron accumulation in the basal ganglia region. Pantothenate kinase-associated neurodegeneration (PKAN) is a major form of this disease.

Results: A total of 7 unrelated patients were diagnosed with PKAN in a single tertiary center from August 2009 to February 2018.

Gaucher disease type 1: Unexpected diagnosis in a 75-year old patient presenting with splenomegaly.

We present a 75-year old Korean female patient harboring novel hemizygous variant mutation in glucosidase beta acid (GBA) gene, who was diagnosed with splenic marginal zone cell lymphoma and Gaucher disease (GD) concurrently. Our case is significant in that (1) it delivers the message that GD can occur at any age regardless of ethnicity and (2) we report a novel variant of pathogenic GBA mutation, and the fact that the patient harbored hemizygous mutation.

Accuracy and Performance Evaluation of Triplet Repeat Primed PCR as an Alternative to Conventional Diagnostic Methods for Fragile X Syndrome.

Background: Conventional diagnosis of fragile X syndrome (FXS) is based on a combination of fragment analysis (FA) and Southern blotting (SB); however, this diagnostic approach is time- and labor-intensive and has pitfalls such as the possibility of missing large number alleles. Triplet repeat primed PCR (TP-PCR) is a current alternative used to overcome these limitations. We evaluated the diagnostic usefulness of TP-PCR compared with the conventional diagnostic protocol consisting of FA and/or SB in terms of allele categorization, repeat number correlation, and zygosity concordance in female genetic carriers.

Diagnostic value of screening enzyme immunoassays compared to indirect immunofluorescence for anti-nuclear antibodies in patients with systemic rheumatic diseases: A systematic review and meta-analysis.

Objective: This study aimed to review and compare the diagnostic accuracy of the screening enzyme immunoassay (SEIA) and indirect immunofluorescence (IIF) as anti-nuclear antibody (ANA) screening assays for patients with systemic rheumatic diseases (SRDs), including systemic lupus erythematosus (SLE), Sjögren's syndrome (SS), and systemic sclerosis (SSc).

Methods: A systematic literature search was conducted in the Medline, Embase, Cochrane, Web of Science, and Scopus databases for articles published before August 2017. A bivariate random effects model was used to calculate pooled diagnostic values.