Purpose: Androgen insensitivity syndrome (AIS) is a rare X-linked recessive disorder caused by unresponsiveness to androgens because of mutations in the AR gene. Here, we investigated the clinical outcomes and molecular spectrum of AR variants in patients with AIS attending a single academic center. Methods: This study included 19 patients with AIS who were confirmed by molecular analysis of AR. Clinical features and endocrinological findings were retrospectively collected, including presenting features, external genitalia, sex of rearing, timing of gonadectomy, pubertal outcomes, and sex hormone levels. Molecular analysis of AR was performed using Sanger, targeted gene panel, or whole-exome sequencing. Results: Among all 19 patients, 14 (74%) were classified as having complete AIS (CAIS), whereas 5 (26%) had partial AIS (PAIS). All patients with CAIS, and 3 patients with PAIS were reared as female. One patient with CAIS manifested a mixed germ cell tumor at the age of 30 years. Molecular analysis of AR identified 19 sequence variants; 12 (63%) were previously reported, and the remaining 7 (37%) were novel. Missense mutations were the most common type (12 of 19, 63%), followed by small deletions, nonsense mutations, an insertion, and a splice site mutation. Conclusion Here, we describe the clinical outcomes and molecular characteristics of 19 Korean patients with AIS. Patients with PAIS manifested various degrees of masculinization of the external genitalia. Nonsense and frameshift mutations were frequent in patients with CAIS, whereas patients with PAIS harbored exclusively missense mutations.

Background/Aims: We aimed to analyze the efficacy of angiotensin receptor-neprilysin inhibitor (ARNI) by the disease course of heart failure (HF). Methods: We evaluated 227 patients with HF in a multi-center retrospective cohort that included those with left ventricular ejection fraction (LVEF) ≤ 40% undergoing ARNI treatment. The patients were divided into patients with newly diagnosed HF with ARNI treatment initiated within 6 months of diagnosis (de novo HF group) and those who were diagnosed or admitted for HF exacerbation for more than 6 months prior to initiation of ARNI treatment (prior HF group). The primary outcome was a composite of cardiovascular death and worsening HF, including hospitalization or an emergency visit for HF aggravation within 12 months. Results: No significant differences in baseline characteristics were reported between the de novo and prior HF groups. The prior HF group was significantly associated with a higher primary outcome (23.9 vs. 9.4%) than the de novo HF group (adjusted hazard ratio 2.52, 95% confidence interval 1.06–5.96, p = 0.036), although on a higher initial dose. The de novo HF group showed better LVEF improvement after 1 year (12.0% vs 7.4%, p = 0.010). Further, the discontinuation rate of diuretics after 1 year was numerically higher in the de novo group than the prior HF group (34.4 vs 18.5%, p = 0.064). Conclusions The de novo HF group had a lower risk of the primary composite outcome than the prior HF group in patients with reduced ejection fraction who were treated with ARNI.

Background: Large-scale studies about epidemiologic characteristics of renal infarction (RI) are few. In this study, we aimed to analyze the incidence and prevalence of RI with comorbidities in the South Korean population. Methods: We investigated the medical history of the entire South Korean adult population between 2013 and 2019 using the National Health Insurance Service database (n = 51,849,591 in 2019). Diagnosis of RI comorbidities were confirmed with International Classification of Disease, Tenth Revision, Clinical Modification codes. Epidemiologic characteristics, distribution of comorbidities according to etiologic mechanisms, and trend of antithrombotic agents were estimated. Results: During the 7-years, 10,496 patients were newly diagnosed with RI. The incidence rate increased from 2.68 to 3.06 per 100,000 person-years during the study period.The incidence rate of RI increased with age peaking in the 70s with 1.41 times male predominance. The most common comorbidity was hypertension, followed by dyslipidemia and diabetes mellitus. Regarding etiologic risk factor distribution, high embolic risk group, renovascular disease group, and hypercoagulable state group accounted for 16.6%, 29.1%, and 13.7% on average, respectively. For the antithrombotic treatment of RI, the prescription of antiplatelet agent gradually decreased from 17.0% to 13.0% while that of anticoagulation agent was maintained around 35%. The proportion of non-vitamin K antagonist oral anticoagulants remarkably increased from only 1.4% to 17.6%. Conclusion Considering the progressively increasing incidence of RI and high prevalence of coexisting risk factors, constant efforts to raise awareness of the disease are necessary. The current epidemiologic investigation of RI would be the stepping-stone to establishing future studies about clinical outcomes and optimal treatment strategies.

Background and Objectives: The newly introduced upright head roll test (UHRT), which exploits head rotations in the roll plane with the patient in the upright sitting position, is a diagnostic maneuver for horizontal canal-benign paroxysmal positional vertigo (HC-BPPV). This study is designed to determine whether UHRT, compared to supine head roll test (SHRT), can more accurately diagnose HC-BPPV and determine the subtype of HC-BPPV.Subjects and Method A total of 455 video nystagmus tests performed between April 2019 to June 2021 were retrospectively reviewed, and 63 patients with direction-changing positional nystagmus at UHRT or SHRT were enrolled in this study. UHRT result was classified as negative (if no nystagmus was observed), positive incomplete (if nystagmus was detected in one side), and positive complete (if nystagmus was evoked in both side). The frequency of nystagmus is also included in our assessment. In addition, the results of 4 patients with bow and lean test (BLT) records on videonystagmography were also analysed. Results: The concordance rate between UHRT and SHRT was 97.8%, and the positive concordance rate was 91.38%. UHRT and SHRT provided identical subtype diagnosis in 98.1% (52 of 53 cases). In one case, UHRT and SHRT showed opposite results. Evaluating the affected side with bow and lean records, the SHRT, UHRT and BLT showed consistent results. The mean frequency of nystagmus was faster in SHRT than in UHRT. Conclusion UHRT showed equivalent results to SHRT in distinguishing subtype of HC-BPPV. UHRT is a useful method in diagnosing HC-BPPV simply in a sitting position.

Objective: Rotational atherectomy (RA) and newly developed second-generation drug-eluting stent (DES) support the strategy of longer stent deployment in comparison to short stent implantations in the past. However, studies analyzing the outcome of patients who received long stent implantation following RA are few in number. The present study compared the clinical outcomes of patients with the coronary arterial disease (CAD) who underwent RA with long stent implantation using first- and second-generation DES. Methods: A retrospective cohort study was performed at the single center from March 2003 to October 2019. Eighty-seven patients with CAD who underwent RA with ≥32 mm long stent implantation were enrolled in the study and divided into two groups according to the type of DES. As a primary endpoint, the cumulative 2-year incidence of major adverse cardiac events (MACE) including death, myocardial infarction (MI), target vessel revascularization, and stent thrombosis (ST) was compared by DES type. Adjusted interaction between the type of stent and clinical variables was estimated to determine the predictor variables of MACE. Results: The second-generation DES group was associated with a shorter procedure duration and more common usage of intravascular ultrasound in procedural characteristics. In the second-generation DES group, a trend toward a lower rate of MI and ST existed. All-cause mortality and cardiovascular mortality were not significantly different. When combined with MACE, we could identify a significant reduction in the second-generation DES group. Conclusion In comparison to the first-generation DES group, the second-generation DES group was associated with a lower rate of MACE for 2 years in patients who underwent RA with long stent implantation.

Background: Pyomyositis (PM) is a serious soft tissue infection and despite its clinical importance, previous studies have not been able to fully determine the clinical characteristics and microbial epidemiology of PM in Korea, which we therefore aimed to investigate. Materials and Methods: We retrospectively identified 140 adult patients diagnosed with PM from 13 general hospitals between January 2012 and December 2015. We analyzed the clinical and microbial characteristics of community-onset PM and compared them with communityacquired (CA) and healthcare-associated (HCA) PM. Results: One hundred eleven organisms were isolated from 96 (68.6%) patients with PM.Staphylococcus aureus (38 patients) was the most common pathogen, followed by streptococci (24 patients), and enteric Gram-negative organisms (27 patients). Methicillin-resistant S.aureus (MRSA) was identified in four (2.9%) patients and in-hospital mortality reached 8.6% (12/140). Enterococci isolates were identified in the HCA PM subgroup only The proportion of MRSA isolates was not comparable between CA and HCA PM subgroups. In the 83 patients with PM infected by monomicrobial pathogens, isolates of Gram-negative organisms were more commonly found in HCA PM subgroup than in CA PM subgroup (47.6% [10/21] of patients with HCA PM vs. 20.7% [12/58] of patients with CA PM; P = 0.01). Conclusion Gram-positive cocci such as S. aureus and streptococci were dominant etiologies in community-onset PM, whereas MRSA appears to an uncommon causative organism of PM in Korea. Enteric Gram-negative organisms should also be considered as major etiologies, especially in HCA PM patient population in Korea.

Background: Pyomyositis (PM) is a serious soft tissue infection and despite its clinical importance, previous studies have not been able to fully determine the clinical characteristics and microbial epidemiology of PM in Korea, which we therefore aimed to investigate. Materials and Methods: We retrospectively identified 140 adult patients diagnosed with PM from 13 general hospitals between January 2012 and December 2015. We analyzed the clinical and microbial characteristics of community-onset PM and compared them with communityacquired (CA) and healthcare-associated (HCA) PM. Results: One hundred eleven organisms were isolated from 96 (68.6%) patients with PM.Staphylococcus aureus (38 patients) was the most common pathogen, followed by streptococci (24 patients), and enteric Gram-negative organisms (27 patients). Methicillin-resistant S.aureus (MRSA) was identified in four (2.9%) patients and in-hospital mortality reached 8.6% (12/140). Enterococci isolates were identified in the HCA PM subgroup only The proportion of MRSA isolates was not comparable between CA and HCA PM subgroups. In the 83 patients with PM infected by monomicrobial pathogens, isolates of Gram-negative organisms were more commonly found in HCA PM subgroup than in CA PM subgroup (47.6% [10/21] of patients with HCA PM vs. 20.7% [12/58] of patients with CA PM; P = 0.01). Conclusion Gram-positive cocci such as S. aureus and streptococci were dominant etiologies in community-onset PM, whereas MRSA appears to an uncommon causative organism of PM in Korea. Enteric Gram-negative organisms should also be considered as major etiologies, especially in HCA PM patient population in Korea.

Background/Aims: With the improvement of hygiene, the incidence of amebic liver abscess is decreasing in South Korea. On the other hand, there is little data on the status of amebic liver abscess compared to pyogenic liver abscess. Methods: Patients with an amebic liver abscess, in whom Entamoeba histolytica (E. histolytica) IgG was positive, were identified retrospectively in a university hospital. The clinical, laboratory, and radiological characteristics of amebic liver abscess were compared with those of pyogenic liver abscess in the same period. Results: Between March 2010 and October 2016, 413 patients with a liver abscess were identified. Among them, the serologic test for E. histolytica was performed in 209 patients. Fifteen (7.2%) were classified as an amebic liver abscess, and the remainder were diagnosed with a pyogenic liver abscess. The age, gender, white blood cell, and CRP was comparable between the two groups. Procalcitonin was lower in amebic liver abscess than the pyogenic one. On CT, peripheral rim enhancement was more frequent, but cluster signs were not observed in amebic liver abscess compared to pyogenic liver abscess. None of the patients with amebic liver abscess died. In contrast, the mortality of pyogenic liver abscess was 4.7%. Conclusions Amebic liver abscess should still be considered as one of the causes of liver abscess in Korea. It is difficult to discriminate an amebic liver abscess from a pyogenic liver abscess only according to the clinical, laboratory, and radiologic findings. Therefore, it is necessary to perform a serologic test for E. histolytica for a precise evaluation of liver abscess in a high-risk group.

BACKGROUND: Telomere shortening is thought to be involved in the pathophysiology of myeloid malignancies, but telomere lengths (TL) during interphase and metaphase in hematopoietic malignancies have not been analyzed. We aimed to assess the TLs of interphase and metaphase cells of MDS and telomerase activity (TA) and to find out prognostic significances of TL and TA. METHODS: The prognostic significance of TA by quantitative PCR and TL by quantitative fluorescence in situ hybridization (QFISH) of interphase nuclei and metaphase chromosome arms of bone marrow cells from patients with MDS were evaluated. RESULTS: MDS patients had shorter interphase TL than normal healthy donors (P<0.001). Average interphase and metaphase TL were inversely correlated (P=0.013, p arm; P=0.029, q arm), but there was no statistically significant correlation between TA and TL (P=0.258). The progression free survival was significantly shorter in patients with high TA, but the overall survival was not different according to average TA or interphase TL groups. Multivariable Cox analysis showed that old age, higher International Prognostic Scoring System (IPSS) subtypes, transformation to AML, no history of hematopoietic stem cell transplantation and short average interphase TL (<433 TL) as independent prognostic factors for poorer survival (P=0.003, 0.001, 0.005, 0.005, and 0.013, respectively). CONCLUSIONS: The lack of correlation between age and TL, TA, and TL, and the inverse relationship between TL and TA in MDS patients reflect the dysregulation of telomere status and proliferation. As a prognostic marker for leukemia progression, TA may be considered, and since interphase TL has the advantage of automated measurement by QFISH, it may be used as a prognostic marker for survival in MDS.
Arm ; Bone Marrow Cells ; Disease-Free Survival ; Fluorescence ; Hematologic Neoplasms ; Hematopoietic Stem Cell Transplantation ; Humans ; In Situ Hybridization ; Interphase ; Leukemia ; Metaphase ; Myelodysplastic Syndromes* ; Polymerase Chain Reaction ; Prognosis ; Telomerase* ; Telomere Shortening ; Telomere* ; Tissue Donors

No abstract available.
Child* ; Humans