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Hereditary gelsolin amyloidosis (HGA) is an autosomal dominant hereditary disease characterized by corneal lattice dystrophy, peripheral neuropathy, and cutis laxa. So far, no Korean patients with HGA have been reported. A 58-yr-old man presented with involuntary facial twitching, progressive bilateral facial weakness, and tongue atrophy. His mother, maternal uncle, two sisters, and son suffered from the same symptoms. Electrophysiological studies revealed signs of chronic denervation in the cervical and lumbar regions, mild sympathetic autonomic dysfunction, and bilateral facial nerve dysfunction. Diagnostic whole-exome sequencing (WES) revealed a p.D214Y heterozygous mutation in the gelsolin gene in affected members. We present the first report of a Korean family with HGA diagnosed by WES. WES facilitated a clinical diagnosis of HGA in patients with undiagnosed neuropathies.
Amyloidosis, Familial/diagnosis/*genetics ; Asian Continental Ancestry Group/*genetics ; Base Sequence ; DNA Mutational Analysis ; Gelsolin/*genetics ; Genotype ; Heterozygote ; Humans ; Male ; Middle Aged ; Pedigree ; Polymorphism, Single Nucleotide ; Republic of Korea

9.Genotyping Influenza Virus by Next-Generation Deep Sequencing in Clinical Specimens.

Moon Woo SEONG ; Sung Im CHO ; Hyunwoong PARK ; Soo Hyun SEO ; Seung Jun LEE ; Eui Chong KIM ; Sung Sup PARK

Annals of Laboratory Medicine 2016;36(3):255-258

Rapid and accurate identification of an influenza outbreak is essential for patient care and treatment. We describe a next-generation sequencing (NGS)-based, unbiased deep sequencing method in clinical specimens to investigate an influenza outbreak. Nasopharyngeal swabs from patients were collected for molecular epidemiological analysis. Total RNA was sequenced by using the NGS technology as paired-end 250 bp reads. Total of 7 to 12 million reads were obtained. After mapping to the human reference genome, we analyzed the 3-4% of reads that originated from a non-human source. A BLAST search of the contigs reconstructed de novo revealed high sequence similarity with that of the pandemic H1N1 virus. In the phylogenetic analysis, the HA gene of our samples clustered closely with that of A/Senegal/VR785/2010(H1N1), A/Wisconsin/11/2013(H1N1), and A/Korea/01/2009(H1N1), and the NA gene of our samples clustered closely with A/Wisconsin/11/2013(H1N1). This study suggests that NGS-based unbiased sequencing can be effectively applied to investigate molecular characteristics of nosocomial influenza outbreak by using clinical specimens such as nasopharyngeal swabs.
Databases, Genetic ; Genotype ; High-Throughput Nucleotide Sequencing ; Humans ; Influenza A Virus, H1N1 Subtype/classification/*genetics/isolation & purification ; Influenza, Human/diagnosis/*virology ; Nasopharynx/*virology ; Nucleic Acid Amplification Techniques ; Phylogeny ; RNA, Viral/analysis/metabolism ; Sequence Analysis, RNA ; Viral Proteins/genetics

10.Antimicrobial Resistance and Molecular Characteristics of Nasal Staphylococcus aureus Isolates From Newly Admitted Inpatients.

Xu CHEN ; Kangde SUN ; Danfeng DONG ; Qingqiong LUO ; Yibing PENG ; Fuxiang CHEN

Annals of Laboratory Medicine 2016;36(3):250-254

Staphylococcus aureus, or methicillin-resistant S. aureus (MRSA), is a significant pathogen in both nosocomial and community infections. Community-associated MRSA (CA-MRSA) strains tend to be multi-drug resistant and to invade hospital settings. This study aimed to assess the antimicrobial resistance and molecular characteristicsof nasal S. aureus among newlyadmitted inpatients.In the present study, 66 S. aureus isolates, including 10 healthcare-associated MRSA (HA-MRSA), 8 CA-MRSA, and 48 methicillin-sensitive S. aureus (MSSA) strains, were found in the nasal cavities of 62 patients by screening 292 newlyadmitted patients. Antimicrobial resistance and molecular characteristics of these isolates, including spa-type, sequence type (ST) and SCCmec type, were investigated. All isolates were sensitive to linezolid, teicoplanin, and quinupristin/dalfopristin, but high levels of resistance to penicillin and erythromycin were detected. According to D-test and erm gene detection results, the cMLSB and iMLSB phenotypes were detected in 24 and 16 isolates, respectively. All 10 HA-MRSA strains displayed the cMLSB phenotypemediated by ermA or ermA/ermC, while the cMLSB CA-MRSA and MSSA strains carried the ermB gene. Molecular characterization revealedall 10 HA-MRSA strains were derived from the ST239-SCCmec III clone, and four out of eight CA-MRSA strains were t437-ST59-SCCmec V. The results suggest that patients play an indispensable role in transmitting epidemic CA-MRSA and HA-MRSA strains.
Anti-Bacterial Agents/*pharmacology ; Bacterial Proteins/genetics ; Drug Resistance, Multiple, Bacterial/genetics ; Humans ; Inpatients ; Methicillin-Resistant Staphylococcus aureus/*drug effects/genetics/isolation & purification ; Methyltransferases/genetics ; Microbial Sensitivity Tests ; Nasal Cavity/*microbiology ; Staphylococcal Infections/diagnosis/microbiology ; Staphylococcus aureus/*drug effects/genetics/isolation & purification

1.Ataxia-Telangiectasia with Novel Splicing Mutations in the ATM Gene.

2.Fatal Pulmonary Mucormycosis Caused by Rhizopus microsporus in a Patient with Diabetes.

3.Necrotizing Pneumonia and Empyema in an Immunocompetent Patient Caused by Nocardia cyriacigeorgica and Identified by 16S rRNA and secA1 Sequencing.

4.Influence of Vitamin C and Maltose on the Accuracy of Three Models of Glucose Meters.

5.Marked Increase of Circulating Double-Negative gammadelta T Cells in a Patient With Hydroa Vacciniforme-Like Lymphoma.

6.Bone Marrow Oxalosis in a Patient With Pancytopenia Following Bilateral Nephrectomy.

7.Minor BCR-ABL1-Positive Acute Myeloid Leukemia Associated With the NPM1 Mutation and FLT3 Internal Tandem Duplication.

8.The First Korean Family With Hereditary Gelsolin Amyloidosis Caused by p.D214Y Mutation in the GSN Gene.

9.Genotyping Influenza Virus by Next-Generation Deep Sequencing in Clinical Specimens.

10.Antimicrobial Resistance and Molecular Characteristics of Nasal Staphylococcus aureus Isolates From Newly Admitted Inpatients.

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