Bowel ischemia following embolization is the major complication of arterial embolization in gastrointestinal bleeding. Although mild ischemia recovers with conservative treatment, perforation should be treated surgically. We report a case of gastrointestinal stromal tumor mistaken for an abscess following embolization of superior mesenteric artery. A 72-year-old female was referred to the emergency room complaining of hematochezia and hematemesis. Endoscopic examination revealed a tiny mucosal defect with spurting bleeding at distal duodenum. Hemostasis could be achieved by embolization of superior mesenteric artery. After ten days, abdominal CT scan showed an abscess-like feature around distal duodenum, but the small bowel series did not show leakage of contrast. Endoscopy revealed round intestinal wall defect. She underwent laparotomy owing to the possibility of perforation and abscess, but surgical findings showed 5 cm mass based on the jejunum just caudal to ligament of Treitz. The mass was finally diagnosed as gastrointestinal stromal tumor combined with necrosis.
Abscess ; Aged ; Duodenum ; Emergencies ; Endoscopy ; Female ; Gastrointestinal Hemorrhage ; Gastrointestinal Stromal Tumors ; Hematemesis ; Hemorrhage ; Hemostasis ; Humans ; Ischemia ; Jejunum ; Laparotomy ; Ligaments ; Mesenteric Artery, Superior ; Necrosis

Bowel ischemia following embolization is the major complication of arterial embolization in gastrointestinal bleeding. Although mild ischemia recovers with conservative treatment, perforation should be treated surgically. We report a case of gastrointestinal stromal tumor mistaken for an abscess following embolization of superior mesenteric artery. A 72-year-old female was referred to the emergency room complaining of hematochezia and hematemesis. Endoscopic examination revealed a tiny mucosal defect with spurting bleeding at distal duodenum. Hemostasis could be achieved by embolization of superior mesenteric artery. After ten days, abdominal CT scan showed an abscess-like feature around distal duodenum, but the small bowel series did not show leakage of contrast. Endoscopy revealed round intestinal wall defect. She underwent laparotomy owing to the possibility of perforation and abscess, but surgical findings showed 5 cm mass based on the jejunum just caudal to ligament of Treitz. The mass was finally diagnosed as gastrointestinal stromal tumor combined with necrosis.
Abscess ; Aged ; Duodenum ; Emergencies ; Endoscopy ; Female ; Gastrointestinal Hemorrhage ; Gastrointestinal Stromal Tumors ; Hematemesis ; Hemorrhage ; Hemostasis ; Humans ; Ischemia ; Jejunum ; Laparotomy ; Ligaments ; Mesenteric Artery, Superior ; Necrosis

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

CHARGE syndrome MIM #214800 is an autosomal dominant syndrome involving multiple congenital malformations. Clinical symptoms include coloboma, heart defects, choanal atresia, retardation of growth or development, genital hypoplasia, and ear anomalies or deafness. Mutations in the chromodomain helicase DNA binding protein 7 (CHD7) gene have been found in 65-70% of CHARGE syndrome patients. Here, we describe a 16-month-old boy with typical CHARGE syndrome, who was referred for CHD7 gene analysis. Sequence analysis and multiplex ligation-dependent probe amplification were performed. A heterozygous 38,304-bp deletion encompassing exon 3 with a 4-bp insertion was identified. There were no Alu sequences adjacent to the breakpoints, and no sequence microhomology was observed at the junction. Therefore, this large deletion may have been mediated by non-homologous end joining. The mechanism of the deletion in the current case differs from the previously suggested mechanisms underlying large deletions or complex genomic rearrangements in the CHD7 gene, and this is the first report of CHD7 deletion by this mechanism worldwide.
Alu Elements/genetics ; Base Sequence ; CHARGE Syndrome/diagnosis/*genetics ; DNA/chemistry/metabolism ; *DNA End-Joining Repair ; DNA Helicases/*genetics/metabolism ; DNA-Binding Proteins/*genetics/metabolism ; Exons ; Gene Dosage ; Heterozygote ; Humans ; Infant ; Male ; Multiplex Polymerase Chain Reaction ; Mutation ; Sequence Analysis, DNA ; *Sequence Deletion

Objective: Patients presenting with fingertip skin defect injuries without exposed bone can avail of two treatment options at the emergency department (ED). This study compared outcomes between dressing and composite graft (CG) using skin stump for patients visiting the ED with fingertip skin defect injuries without exposed bone. Methods: This was a single-center, retrospective, observational study. We reviewed 244 patients with fingertip skin defect injuries without exposed bone who visited the ED from September 2018 to February 2021. We compared the outcomes of the patients who were treated by CG using skin stump and those who received a dressing in the ED. Results: In all, 142 patients were treated by CG using skin stump, and 102 patients were given a dressing only. In the CG group, good outcomes were obtained in 140 patients, whereas additional skin graft treatment was required for two patients with bad outcomes. In the dressing group, 81 patients had good outcomes and 21 patients had bad outcomes which required additional skin graft treatment. Conclusion Results of our study revealed that compared to traditional dressing, ED treatment for fingertip skin defects without exposed bone showed good outcomes when administered CG using skin stump. Hence, we recommend that instead of simple dressing, CG using skin stump is the preferred mode of treatment for patients presenting in the ED with fingertip skin defect injuries without exposed bone.

BACKGROUND: The major genetic cause of Currarino syndrome (CS), a congenital malformation syndrome typically characterized by sacral agenesis, anorectal malformation, and presence of a pre-sacral mass, is known to be pathogenic variants in motor neuron and pancreas homeobox 1 (MNX1), which exist in almost all familial cases and 30% of sporadic cases. Less commonly, a large deletion or a complex rearrangement involving the 7q36 region is associated with CS. We investigated the spectrum of MNX1 pathogenic variants and associated clinical features in the Korean patients with CS. METHODS: We enrolled 25 patients with CS, including 24 sporadic cases and one familial case. Direct sequencing of MNX1 and multiplex ligation-dependent probe amplification were performed. We also analyzed clinical phenotypes and evaluated genotype-phenotype correlations. RESULTS: We identified six novel variants amongst a total of six null variants, one missense variant, and one large deletion. The null variants included four frameshift variants (p.Gly98Alafs*124, p.Gly145Alafs*77, p.Gly151Leufs*67, and p.Ala216Profs*5) and two nonsense variants (p.Tyr186* and p.Gln212*). The missense variant, p.Lys295Gln, was located in the highly-conserved homeobox domain and was predicted to be deleterious. A large deletion involving the 7q36 region was detected in one patient. Pathogenic variants in MNX1 were detected in 28% of all CS cases and 25% of sporadic cases. The clinical phenotype was variable in patients with and without pathogenic variants; no significant genotype-phenotype correlation was observed. CONCLUSIONS: This study revealed the spectrum and phenotypic variability of MNX1 pathogenic variants in the Korean population.
Genes, Homeobox ; Genetic Association Studies ; Humans ; Motor Neurons ; Multiplex Polymerase Chain Reaction ; Pancreas ; Phenotype

Long QT syndrome (LQTS) is an inherited cardiac disease characterized by a prolonged heart rate-corrected QT (QTc) interval. We investigated the genetic causes in patients with prolonged QTc intervals who were negative for pathogenic variants in three major LQTS-related genes (KCNQ1, KCNH2, and SCN5A). Molecular genetic testing was performed using a panel including 13 LQTS-related genes and 67 additional genes implicated in other cardiac diseases. Overall, putative genetic causes of prolonged QTc interval were identified in three of the 30 patients (10%). Among the LQTS-related genes, we detected a previously reported pathogenic variant, CACNA1C c.1552C>T, responsible for cardiac-only Timothy syndrome. Among the genes related to other cardiac diseases, a likely pathogenic variant, RYR2 c.11995A>G, was identified in a patient with catecholaminergic polymorphic ventricular tachycardia. Another patient who developed dilated cardiomyopathy with prolonged QTc interval was found to carry a likely pathogenic variant, TAZ c.718G>A, associated with infantile dilated cardiomyopathy. Comprehensive screening of genetic variants using multigene panel sequencing enables detection of genetic variants with a possible involvement in QTc interval prolongation, thus uncovering unknown molecular mechanisms underlying LQTS.
Cardiomyopathy, Dilated ; Heart ; Heart Diseases ; Humans ; Long QT Syndrome ; Mass Screening ; Molecular Biology ; Ryanodine Receptor Calcium Release Channel ; Tachycardia, Ventricular