Characteristics Of Korean Patients Research Articles

Transthyretin amyloidosis prevalence and characteristics in Korean patients with heart failure with preserved or mildly reduced ejection fractions

The diagnosis and awareness of transthyretin amyloidosis cardiomyopathy (ATTR-CM) in heart failure with left ventricular ejection fraction (LVEF) > 40% remains under-recognized. This study aimed to investigate the prevalence and characteristics of ATTR-CM in patients with heart failure with LVEF > 40%. Patients with LVEF > 40% and maximal left ventricular wall thickness (MWT) > 10 mm who underwent bone scintigraphy were retrospectively investigated. Patients with a definite cause of heart failure were excluded. ATTR-CM was diagnosed when grade 2 or 3 myocardial uptake was observed on scintigraphy. Among 97 patients (male, 62.5%; median age, 69 years), 13 (13.4%) were diagnosed with ATTR-CM (wild type, 69.2%; hereditary type, 30.8%). Age or biomarker levels did not differ significantly; however, all patients with ATTR-CM were male. The ATTR-CM group had a significantly higher prevalence of polyneuropathy or carpal tunnel syndrome than the non-ATTR-CM group, accompanied by a longer PR interval, thicker MWT, larger left atrial volume index, and higher E/e′. Accordingly, ATTR was present in a substantial number, particularly among men. Clinicians should suspect ATTR when a male patient exhibits neurologic symptoms, diastolic dysfunction, and a long PR interval.

Diversity of Clinical and Molecular Characteristics in Korean Patients with 16p11.2 Microdeletion Syndrome.

16p11.2 copy number variations (CNVs) are increasingly recognized as one of the most frequent genomic disorders, and the 16p11.2 microdeletion exhibits broad phenotypic variability and a diverse clinical phenotype. We describe the neurodevelopmental course and discordant clinical phenotypes observed within and between individuals with identical 16p11.2 microdeletions. An analysis with the CytoScan Dx Assay was conducted on a GeneChip System 3000Dx, and the sample signals were then compared to a reference set using the Chromosome Analysis Suite software version 3.1. Ten patients from six separate families were identified with 16p11.2 microdeletions. Nine breakpoints (BPs) 4-5 and one BP2-5 of the 16p11.2 microdeletion were identified. All patients with 16p11.2 microdeletions exhibited developmental delay and/or intellectual disability. Sixty percent of patients presented with neonatal hypotonia, but muscle weakness improved with age. Benign infantile epilepsy manifested between the ages of 7-10 months (a median of 8 months) in six patients (60%). Vertebral dysplasia was observed in two patients (20%), and mild scoliosis was noted in three patients. Sixty percent of patients were overweight. We present six unrelated Korean families, among which identical 16p11.2 microdeletions resulted in diverse developmental trajectories and discordant phenotypes. The clinical variability and incomplete penetrance observed in individuals with 16p11.2 microdeletions remain unclear, posing challenges to accurate clinical interpretation and diagnosis.

High intake of sweet foods and low life satisfaction can act as risk factors for acute coronary syndrome through synergistic interaction.

Dietary and psychological status contributes to the development of coronary artery disease. However, these lifestyle factors may vary depending on ethnic and environmental background, and secondary prevention programs dealing with these factors in a specific population are not well-established. We aimed to assess dietary and psychological characteristics in Korean patients with acute coronary syndrome (ACS) and analyze their interactions as independent risk factors for ACS. Ninety-two patients with ACS (29 acute myocardial infarction and 63 unstable angina) and 69 controls were subjected to dietary and psychological analyses. Dietary intake was assessed by a food frequency questionnaire. Psychological depression and perceived stress were assessed using the Patient Health Questionnaire-9 and the Perceived Stress Scale, respectively. Eight domains of life satisfaction (marital/love relationship, leisure, standard of living, job, health, family life, sex life, and self) were assessed using the Domain Satisfaction Questionnaire (DSQ). The ACS group had a higher consumption of sweets and fish/seafood, as well as higher levels of depressive symptoms. Additionally, they had lower DSQ scores in total, and all eight individual domains compared with the control group. In multivariate logistic regression analysis, sweet intake (OR 4.57, 95% CI: 1.94-11.40) and total DSQ scores (OR 0.34, 95% CI: 0.14-0.81) were identified as independent risk factors for ACS. Furthermore, these factors, which displayed a significant inverse correlation (ρ = -0.23, p = 0.01), were determined as having a synergistic contribution to the development of ACS. High sweet food intake and low life satisfaction can act as risk factors for ACS through a synergistic interaction, which emphasizes a demand for a more comprehensive approach to secondary prevention of ACS. In addition, these data highlight the role of positive psychological wellbeing factors in cardiovascular health.

Clinical Features and Brain MRI Findings in Korean Patients with AGel Amyloidosis.

PurposeAGel amyloidosis is systemic amyloidosis caused by pathogenic variants in the GSN gene. In this study, we sought to characterize the clinical and brain magnetic resonance image (MRI) features of Korean patients with AGel amyloidosis.Materials and MethodsWe examined 13 patients with AGel amyloidosis from three unrelated families. Brain MRIs were performed in eight patients and eight age- and sex-matched healthy controls. Therein, we analyzed gray and white matter content using voxel-based morphometry (VBM), tract-based spatial statistics (TBSS), and FreeSurfer.ResultsThe median age at examination was 73 (interquartile range: 64–76) years. The median age at onset of cutis laxa was 20 (interquartile range: 15–30) years. All patients over that age of 60 years had dysarthria, cutis laxa, dysphagia, and facial palsy. Two patients in their 30s had only mild cutis laxa. The median age at dysarthria onset was 66 (interquartile range: 63.5–70) years. Ophthalmoparesis was observed in three patients. No patient presented with muscle weakness of the limbs. Axial fluid-attenuated inversion recovery images of the brain showed no significant differences between the patient and control groups. Also, analysis of VBM, TBSS, and FreeSurfer revealed no significant differences in cortical thickness between patients and healthy controls at the corrected significance level.ConclusionOur study outlines the clinical manifestations of prominent bulbar palsy and early-onset cutis laxa in 13 Korean patients with AGel amyloidosis and confirms that AGel amyloidosis mainly affects the peripheral nervous system rather than the central nervous system.

Characteristics of Korean patients with methamphetamine use disorder based on the quantitative analysis of methamphetamine and amphetamine in hair.

Methamphetamine (MA) is a highly addictive central nervous system stimulant. MA use disorder is characterized by a chronic, relapsing brain disease that is enhanced by a dynamic process of repeated use and withdrawal. The analysis of MA and its metabolite, amphetamine (AM), in hair is routinely performed in forensic laboratories for illegal MA use determination. However, few studies regarding the clinical application of hair analysis have been conducted to monitor the treatment of MA use disorder. Herein, the characteristics of Korean patients with MA use disorder were investigated based on drug abuse screening instruments and quantitative analysis of MA and AM in hair. A HPLC-MS/MS method for the quantification of MA and AM in hair was validated and clinically applied to healthy subjects (HS, n = 30, male) as well as current (CP, n = 33, male) and former (FP, n = 22, male) MA use disorder patients. The validation results of the hair analysis method showed high selectivity, accuracy, and precision with acceptable linearity within the calibration range (0.05-5.0ng/mg). The limit of detection (LOD) and limit of quantification for both MA and AM were 0.05ng/mg. The concentrations of MA and AM ranged from ≤ LOD to 166ng/mg and from not detected (ND) to 9.15ng/mg in the CP group and from ND to 6.14ng/mg and from ND to 0.32ng/mg in the FP group, respectively. No correlation was observed between the hair MA concentrations and the NIDA-modified ASSIST, DUDID extended, or DAST scores in both groups. The hair MA concentrations showed advantages for differentiating the CP and FP groups compared with the scores provided by the above-mentioned drug abuse screening instruments.

Contact Lens Induced Limbal Stem Cell Deficiency: Clinical Features in Korean Patients.

PurposeTo describe the clinical features of Korean patients with contact lens-induced limbal stem cell deficiency (CL-LSCD).MethodsMedical records of 22 patients who were diagnosed with CL-LSCD between 2014 and 2019 were reviewed retrospectively. Outcome measures included demographics, clinical presentation, treatment, clinical course, and pattern of contact lens (CL) wear.ResultsForty-two eyes of 22 patients were found to have typical changes associated with CL-LSCD. Twenty (91%) patients were women and mean age was 36 ± 12 years. All patients had myopia with mean spherical equivalent of −7.52 ± 3.2 diopter. Twenty (91%) patients had bilateral disease and the location of limbal involvement was diffuse in 20 eyes (47.6%) and partial in 22 eyes (52.4%, superior in 20 eyes and inferior in 2 eyes). Fourteen (63.6%) patients complained of decreased visual acuity. Average period of CL wear was 14 ± 9 years. Four patients used cosmetic colored CLs and four patients had a history of overnight CL wear. All 12 patients who completed follow-up (28 ± 42 weeks) showed improvement in visual acuity and ocular surface condition after cessation of CL wear and medical treatment. Of them, five (42%) patients showed full recovery while seven (58%) showed partial recovery.ConclusionsIf a patient with a history of CL wear for an extended period of time presents with decreased visual acuity, practitioners should perform detailed examinations with suspicion of CL-LSCD, including fluorescein staining. CL-LSCD is usually reversible and close follow-up with conservative treatment is recommended as the initial treatment option.

Altered mRNA expression levels of the major components of sphingolipid metabolism, ceramide synthases and their clinical implication in colorectal cancer.

Ceramide synthases (CerSs) synthesize various ceramides of different acyl chain lengths and serve important roles in the proliferation and death of cancer cells by regulating sphingolipid metabolism‑related signaling pathways. The present study investigated the mRNA expression levels of various CerS genes using mRNA expression data from six independent colorectal cancer (CRC) cohorts and a Korean CRC dataset. Expression levels of CERS2, CERS5 and CERS6 mRNA were significantly increased in the majority of the studied groups. However, CERS4 expression was only significantly altered in two groups. Additionally, a positive correlation was observed between altered CERS4 and CERS5 mRNA levels in The Cancer Genome Atlas Colon and Rectal Cancer dataset. Notably, CERS2 and CERS4, as well as CERS5 and CERS6 levels, were positively correlated with each other in Korean patients with CRC. However, the mRNA expression levels of these four CerS genes were not associated with any clinicopathological characteristics in Korean patients with CRC. Finally, overexpressing CERS2 or CERS6 inhibited the invitro viability of various CRC cells. Taken together, these findings indicated that CERS2, CERS4, CERS5, and CERS6 are significantly dysregulated in CRC, suggesting they may serve important roles in the pathophysiology of this malignancy.

Spectrum of MNX1 Pathogenic Variants and Associated Clinical Features in Korean Patients with Currarino Syndrome.

BackgroundThe 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.MethodsWe 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.ResultsWe 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.ConclusionsThis study revealed the spectrum and phenotypic variability of MNX1 pathogenic variants in the Korean population.

Characteristics of Korean Patients with Polymyalgia Rheumatica: a Single Locomotive Pain Clinic Cohort Study.

BackgroundPolymyalgia rheumatica (PMR) is a common systemic inflammatory disease of the elderly; however, the clinical characteristics and therapeutic response of PMR in Korea have been rarely studied.MethodsWe reviewed the medical records of 54 Korean patients diagnosed with PMR between January 2009 and February 2017 in a locomotive pain clinic of one tertiary referral hospital. We analyzed epidemiologic and clinical characteristics, therapeutic responses, and prognostic factors for remission-failure at one-year after oral prednisolone treatment.ResultsIn 54 patients with PMR, 32 (59.3%) were female. The average age at diagnosis was 65.0 ± 10.5 years. Duration of symptoms before diagnosis was 8.1 ± 8.6 months. All patients had shoulder pain (54 patients, 100.0%); 49 patients (90.7%) had hip girdle pain, while 19 patients (35.2%) had peripheral joint pain. Four patients (7.4%) were accompanied by the giant cell arteritis (GCA). There was no seasonal preference for symptom development. Only 19 patients were diagnosed with PMR at initial symptom presentation. At one-year follow-up after oral prednisolone treatment, the remission rate was 35.3% (12/34). Multivariate analysis showed that history of relapse (odds ratio, 6.81; 95% confidence interval, 1.035–44.804) was a significant predictor of remission-failure.ConclusionThe rate of remission (35.3%) after oral prednisolone treatment was similar to previous reports in western countries; and GCA is not a rare condition in Korean PMR patients. Misdiagnosis of PMR is common, and heightened consideration for PMR is needed in elderly patients who present inflammatory features of bilateral shoulder pain.

Characteristics of Korean Patients with Primary Adrenal Insufficiency: A Registry-Based Nationwide Survey in Korea.

BackgroundPrimary adrenal insufficiency (PAI) is a rare, potentially life-threatening condition. There are few Korean studies on PAI, and most have had small sample sizes. We aimed to examine the etiology, clinical characteristics, treatment, and mortality of PAI in Korean patients.MethodsA nationwide, multicenter, registry-based survey was conducted to identify adults diagnosed with or treated for PAI at 30 secondary or tertiary care institutions in Korea between 2000 and 2014.ResultsA total of 269 patients with PAI were identified. The prevalence of PAI was 4.17 per million. The estimated incidence was 0.45 per million per year. The mean age at diagnosis was 49.0 years, and PAI was more prevalent in men. Adrenal tuberculosis was the most common cause of PAI in patients diagnosed before 2000; for those diagnosed thereafter, adrenal metastasis and tuberculosis were comparable leading causes. The etiology of PAI was not identified in 34.9% of cases. Of the patients receiving glucocorticoid replacement therapy, prednisolone was more frequently administered than hydrocortisone (69.4% vs. 26.5%, respectively), and only 27.1% of all patients received fludrocortisone. We observed an increased prevalence of metabolic disease and osteoporosis during the follow-up period (median, 60.2 months). The observed overall mortality and disease-specific mortality rates were 11.9% and 3.1%, respectively.ConclusionThe prevalence of PAI is significantly lower in Koreans than in reports from Western countries. The high frequency undetermined etiology in patients with PAI suggests the need to reveal accurate etiology of PAI in Korea.

Prevalence of Psoriasis in Korea: A Population-Based Epidemiological Study Using the Korean National Health Insurance Database.

BackgroundAlthough psoriasis is universal in its occurrence worldwide, its prevalence varies by geographic location and race. A few hospital-based surveys have reported on the demographic characteristics in Korean patients with psoriasis. However, a nation-wide study on the prevalence of psoriasis in Korea remains uncompleted.ObjectiveThe purpose of this study was to determine the prevalence of psoriasis in Korea and to describe the demographic and social characteristics of afflicted individuals.MethodsWe identified patients with psoriasis using a relevant diagnostic code from the sixth revision of the Korean Standard Classification of Disease in the 2011~2015 claims database of the Health Insurance Review and Assessment Service of Korea. We estimated the annual prevalence of psoriasis and described the age and sex distribution of the patients, type and severity of psoriasis, comorbidities, type of health insurance, type of health-care institution and residence area. Patients with moderate-to-severe psoriasis were defined as those who had been treated with phototherapy, classical systemic agents, and/or biologic agents.ResultsThe standardized prevalence of psoriasis was 453 per 100,000 individuals of the database population in 2015. We found male preponderance with a 1.3:1 male-to-female ratio, and that the largest number of patients belonged to the age group of 50s. Of the patients diagnosed with psoriasis in 2015, 83.8% had plaque psoriasis and 22.6% had moderate-to-severe psoriasis.ConclusionThe annual standardized prevalence of psoriasis in Korea was 453 per 100,000 of the population in 2015.

The Correlation of Endoscopic Findings and Clinical Features in Korean Patients with Scrub Typhus: A Cohort Study.

Scrub typhus is an infectious disease caused by Orientia tsutsugamushi-induced systemic vasculitis, but the involvement of the gastrointestinal tract and the endoscopic findings associated with scrub typhus are not well understood. We performed a prospective study and recommend performing esophagogastroduodenoscopy (EGD) for all possible scrub typhus patients, regardless of gastrointestinal symptoms. Gastrointestinal symptoms, endoscopic findings and clinical severity based on organ involvement and ICU admission were analyzed. Gastrointestinal symptoms occurred in up to 76.4% of scrub typhus patients. The major endoscopic findings were ulcers (43/127, 33.9%). Interestingly, 7.1% (9/127) of the patients presented with esophageal candidiasis. There was no correlation between the presence or absence of gastrointestinal symptoms and the endoscopic grade (P = 0.995). However, there was a positive correlation between the clinical severity and the endoscopic findings (P = 0.001). Sixty-three percent of the patients presented with erosion or ulcers on prospectively performed endoscopic evaluations, irrespective of gastrointestinal symptoms. Gastrointestinal symptoms did not reflect the need for endoscopy. Scrub typhus patients could have significant endoscopic abnormalities even in the absence of gastrointestinal symptoms.

Genetics of Aldosterone-Producing Adenoma in Korean Patients.

ObjectivesRecently, somatic mutations in KCNJ5, ATP1A1, ATP2B3, and CACNA1D genes were found to be associated with the pathogenesis of aldosterone-producing adenoma (APA). This study aimed to investigate the prevalence of somatic mutations in KCNJ5, ATP1A1, ATP2B3, and CACNA1D and examine the correlations between these mutations and the clinical and biochemical characteristics in Korean patients with APA.MethodsWe performed targeted gene sequencing in 66 patients with APA to detect somatic mutations in these genes.ResultsSomatic KCNJ5 mutations were found in 47 (71.2%) of the 66 patients with APA (31 cases of p.G151R and 16 cases of p.L168R); these two mutations were mutually exclusive. Somatic mutations in the ATP1A1, ATP2B3, and CACNA1D genes were not observed. Somatic KCNJ5 mutations were more prevalent in female patients (66% versus 36.8%, respectively; P = 0.030). Moreover, patients with KCNJ5 mutations comprised a significantly higher proportion of patients younger than 35 years of age (19.1% versus 0%, respectively; P = 0.040). There were no significant differences in pre-operative blood pressure, plasma aldosterone, serum potassium, lateralization index, and adenoma size according to mutational status. Patients with KCNJ5 mutations were less likely to need antihypertensive medications after adrenalectomy compared with those without mutation (36.2% versus 63.2%; P = 0.045).ConclusionsThe present study demonstrated the high prevalence of somatic KCNJ5 mutations in Korean patients with APA. Carriers of somatic KCNJ5 mutations were more likely to be female. Early diagnosis and better therapeutic outcomes were associated with somatic KCNJ5 mutations in APA.

Potential Relationship between Season of Birth and Clinical Characteristics in Major Depressive Disorder in Koreans: Results from the CRESCEND Study.

We aimed to examine the potential relationship between season of birth (SOB) and clinical characteristics in Korean patients with unipolar non-psychotic major depressive disorder (MDD). Using data from the Clinical Research Center for Depression (CRESCEND) study in South Korea, 891 MDD patients were divided into two groups, those born in spring/summer (n=457) and those born in autumn/winter (n=434). Measurement tools comprising the Hamilton Depression Rating Scale, Hamilton Anxiety Rating Scale, Brief Psychiatric Rating Scale, Scale for Suicidal Ideation, Clinical Global Impression of severity, Social and Occupation Functional Assessment Scale, WHO Quality of Life assessment instrument-abbreviated version, Alcohol Use Disorder Identification Test, and Temperament and Character Inventory were used to evaluate depression, anxiety, overall symptoms, suicidal ideation, global severity, social function, quality of life, drinking, and temperament and character, respectively. Using independent t-tests for continuous variables and χ2 tests for discrete variables, the clinical characteristics of the two groups were compared. MDD patients born in spring/summer were on average younger at onset of first depressive episode (t=2.084, p=0.038), had greater loss of concentration (χ2=4.589, p=0.032), and were more self-directed (t=2.256, p=0.025) than those born in autumn/winter. Clinically, there was a trend for the MDD patients born in spring/summer to display the contradictory characteristics of more severe clinical course and less illness burden; this may have been partly due to a paradoxical effect of the 5-HT system.

Clinical Features and Molecular Characteristics of Korean Patients with Congenital Aniridia

Clinical Features and Molecular Characteristics of Korean Patients with Congenital Aniridia

Distinct features in Koreans with involutional blepharoptosis.

The authors intended to present the distinct characteristics in Korean patients with involutional ptosis that deviate from typically defined features. This is a prospective observational study of 162 Korean patients with involutional ptosis. The patients underwent levator aponeurosis advancement surgery from January of 2006 to June of 2013. Patient characteristics including eyelid crease, palpebral fissure width, levator function, and the shape and condition of the levator muscle and aponeurosis were assessed. Of 279 total eyes in 162 patients, high eyelid crease and levator aponeurosis disinsertion from the tarsal plate were observed in 19.7 percent and 13 percent of the eyes, respectively. Moderate to severe fat tissue infiltration on the levator muscle was noted in 90.6 percent of the eyes. Patients were older (p = 0.002) and the eyelid drooping was more severe (p < 0.001) in cases with more fat infiltration. Levator function was inversely proportional to the degree of fat tissue infiltration (p = 0.037). Slightly decreased levator function, infrequent high eyelid crease occurrence, thick and puffy eyelids, low incidence of levator aponeurosis disinsertion from the tarsal plate, and prominent fatty infiltration on the levator muscle are distinct and unique characteristics of involutional ptosis in Korean patients.

Characteristics of Korean patients with suspected Creutzfeldt-Jakob disease with 14-3-3 protein in cerebrospinal fluid: Preliminary study of the Korean Creutzfeldt-Jakob disease active surveillance program

Although Korea had a national surveillance system for Creutzfeldt-Jakob disease (CJD), it was mainly dependent on attending physician's reports. Thus, little prospective data about the epidemiology, characteristics, and final diagnoses of suspected patients were available. We have established a nationwide network for the active surveillance of patients with suspected CJD. When the requested cerebrospinal fluid (CSF) samples tested positive for 14-3-3 protein, we investigated the clinical characteristics of the corresponding patients and followed them until their final diagnoses were confirmed. A total of 218 samples were requested for CSF assays from May 2010 to August 2012, and 106 (48.6%) were positive for 14-3-3 protein. In 89 patients with complete clinical data, 38 (42.7%) were diagnosed with probable CJD and the estimated annual occurrence of CJD was 16.3 persons-per-year. The most common diagnoses of the remainder were central nervous system infection and any-cause encephalopathy. Non-CJD subjects showed worse initial consciousness levels than CJD patients. This preliminary study showed that the number of reported cases of CJD and the true positivity rates of CSF 14-3-3 protein assays were both low in Korea. An active surveillance system is urgently needed to provide the latest nationwide epidemiological data of CJD.

Characteristics of Korean Patients with Antithyroid Drug-Induced Agranulocytosis: A Multicenter Study in Korea.

BackgroundAntithyroid drugs (ATDs) can lead to the development of agranulocytosis, which is the most serious adverse effect. Characteristics of ATD-induced agranulocytosis (AIA) have seldom been reported due to the rarity. In this study, we characterized the clinical features for AIA in Korean patients.MethodsWe retrospectively reviewed data from patients with AIA diagnosed between 1997 and 2014 at four tertiary hospitals. Agranulocytosis was defined as an absolute neutrophil count (ANC) below 500/mm3.ResultsThe mean age of the patients (11 males, 43 females) was 38.2±14.9 years. Forty-eight patients (88.9%) with AIA had fever and sore throat on initial presentation, 20.4% of patients developed AIA during the second course of treatment, and 75.9% of patients suffered AIA within 3 months after initiation of ATD. The patients taking methimazole (n=39) showed lower levels of ANC and more frequent use of granulocyte-macrophage colony-stimulating factor than propylthiouracil (n=15) users. The median duration of agranulocytosis was 5.5 days (range, 1 to 20). No differences were observed between the long (≥6 days) and short recovery time (≤5 days) groups in terms of age, gender, ATDs, duration of ATDs, or initial ANC levels. Four patients (7.4%) who were taking ATDs for less than 2 months died of sepsis on the first or second day of hospitalization.ConclusionThe majority of AIA incidents occur in the early treatment period. Considering the high fatality rate of AIA, an early aggressive therapeutic approach is critical and patients should be well informed regarding the warning symptoms of the disease.

Dermatofibrosarcoma protuberans: a study of clinical, pathologic, genetic, and therapeutic features in Korean patients.

PurposeDermatofibrosarcoma protuberans (DFSP) carries a translocation resulting in the collagen type I alpha 1 (COL1A1)-platelet-derived growth factor beta (PDGFB) fusion gene, which is responsible for PDGFB activation. The purpose of this study is to evaluate the clinicopathological, genetic, and therapeutic features of DFSP in Korean patients.Materials and MethodsClinicopathological features of 37 patients with DFSP were reviewed. Multiplex reverse transcriptase-polymerase chain reaction (PCR) was carried out in 16 patients using formalin-fixed, paraffin-embedded tissues and specific primers for COL1A1 and PDGFB.ResultsThe mean age of 37 patients was 37.4 years old. The most common tumor location was the trunk. All patients were treated primarily with surgery: 34 (91.7%) cases with Mohs micrographic surgery (MMS) and 3 (8.3%) cases with wide local excision. The median follow-up time was 33.7 months. Two patients, one in each treatment group, demonstrated local recurrence during the follow-up period. The COL1A1-PDGFB fusion gene was expressed in 14 (87.5%) cases, demonstrated by reverse transcriptase PCR analysis. No association was found among the different COL1A1-PDGFB fusion transcripts, the various histological subtypes and clinical features.ConclusionOur results support the effectiveness of MMS in treating DFSP. The COL1A1-PDGFB fusion transcript was observed in 87.5% of patients. Therefore, COL1A1-PDGFB is a useful and accurate tool in diagnosing DFSP in Koreans.

Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experience.

PurposeIsolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is classified as Kallmann syndrome (KS) with anosmia and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). This study was undertaken to investigate the clinical, endocrinological, and molecular characteristics in Korean patients with KS and nIHH.MethodsTwenty-six patients from 25 unrelated families were included. Their clinical, endocrinological, and radiological findings were analyzed retrospectively. Mutation analysis of the GNRH1, GNRHR, KISS1, KISS1R, PROK2, PROKR2, TAC3, TACR3, FGF8, FGFR1, and KAL1 genes was performed in all patients. CHD7 and SOX10 were analyzed in patients with CHARGE (Coloboma, Heart defects, choanae Atresia, Growth retardation, Genitourinary abnormality, Ear abnormality) features or deafness.ResultsOf the 26 patients, 16 had KS and 10 had nIHH. At diagnosis, mean chronologic age was 18.1 years in males and 18.0 years in females; height SDS were -0.67±1.35 in males, -1.12±1.86 in females; testis volume was 2.0±1.3 mL; and Tanner stage was 1.5. There were associated anomalies in some of the KS patients: hearing loss (n=6) and congenital heart disease (n=4). Absence or hypoplasia of the olfactory bulb/sulci was found in 84.62% of patients with KS. Molecular defects in KAL1, SOX10, and CHD7 were identified in 5 patients from 4 families (16.0%, 4/25 pedigrees). After sex hormone replacement therapy, there were improvement in sexual characteristics and the sexual function.ConclusionThis study described the clinical, endocrinological, and molecular genetic features in IGD patients in Korea. Although the mutation screening was performed in 10 genes that cause IGD, molecular defects were identified in relatively small proportions of the cohort.