ABSTRACT
Purpose@#For precision medicine, exploration and monitoring of molecular biomarkers are essential. However, in advanced gastric cancer (GC) with visceral lesions, an invasive procedure cannot be performed repeatedly for the follow-up of molecular biomarkers. @*Materials and Methods@#To verify the clinical implication of serial liquid biopsies targeting circulating tumor DNA (ctDNA) on treatment response, we conducted targeted deep sequencing for serially collected ctDNA of 15 HER2-positive metastatic GC patients treated with anti-PD-1 inhibitor in combination with standard systemic treatment. @*Results@#In the baseline ctDNAs, 14 patients (93%) harbored more than one genetic alteration. A number of mutations in wellknown cancer-related genes, such as KRAS and PIK3CA, were identified. Copy number alterations were identified in eight GCs (53.3%), and amplification of the ERBB2 gene (6/15, 40.0%) was the most recurrent. When we calculated the mean variant allele frequency (VAF) of mutations in each ctDNA as the molecular tumor burden index (mTBI), the mTBI trend was largely consistent with the VAF profiles in both responder and non-responder groups. Notably, in the longitudinal analysis of ctDNA, mTBI provided 2–42 weeks (mean 13.4 weeks) lead time in the detection of disease progression compared to conventional follow-up with CT imaging. @*Conclusion@#Our data indicate that the serial genetic alteration profiling of ctDNA is feasible to predict treatment response in HER2-positive GC patients in a minimally invasive manner. Practically, ctDNA profiles are useful not only for the molecular diagnosis of GC but also for the selection of GC patients with poor prognosis for systemic treatment (ClinicalTrials.gov identifier:NCT02901301).
ABSTRACT
Purpose@#To report a case of orbital infarction syndrome in a patient with hemophagocytic lymphohistiocytosis (HLH).Case summary: A 70-year-old woman with diabetes mellitus and hypertension was referred to the Department of Ophthalmology for sudden-onset left upper eyelid ptosis after being diagnosed with HLH. After 3 days, the best corrected visual acuity in the right eye was 0.8, while there was no light perception in the left eye. In the left eye, the ocular motility examination showed limitations in all fields of gaze. On fundus examination, optic disc pallor, retinal hemorrhage, and narrowed retinal arteries were observed in the left eye. Fluorescein angiography showed no blood flow in the retinal arteries and veins in the left eye. On neck computed tomography angiography, the left distal internal carotid artery was narrowed. Orbit computed tomography showed exophthalmos and extraocular muscle hypertrophy in the left eye. Orbit magnetic resonance imaging confirmed optic nerve edema, enhancement of the optic nerve sheath, and high signal intensity of the intraocular fat in the left eye. Slit-lamp examination revealed ischemia of the anterior segment and ischemic necrosis of the eyelid in the left eye. The patient was diagnosed with orbital infarction syndrome. @*Conclusions@#Several factors may lead to ischemia of the orbital tissues in patients with HLH, including coagulopathy, an increased incidence of blood clots, and inflammation in the orbit. It is necessary to consider the possibility of orbital infarction syndrome when HLH patients present with visual loss, ocular movement limitations, and anterior segment ischemia.
ABSTRACT
The survival rate of children admitted in the neonatal intensive care unit (NICU) after birth is on the increase; hence, proper evaluation and care of their neurodevelopment has become an important issue. Neurodevelopmental assessments of individual domains regarding motor, language, cognition, and sensory perception are crucial in planning prompt interventions for neonates requiring immediate support and rehabilitation treatment. These assessments are essential for identifying areas of weakness and designing targeted interventions to improve future functional outcomes and the quality of lives for both the infants and their families. However, initial stratification of risk to select those who are in danger of neurodevelopmental disorders is also important in terms of cost-effectiveness. Efficient and robust functional evaluations to recognize early signs of developmental disorders will help NICU graduates receive interventions and enhance functional capabilities if needed. Several age-dependent, domain-specific neurodevelopmental assessment tools are available; therefore, this review summarizes the characteristics of these tools and aims to develop multidimensional, standardized, and regular follow-up plans for NICU graduates in Korea.
ABSTRACT
Purpose@#An increasing number of patients with cancers are interested in complementary and alternative medicine (CAM), which lacks scientific evidence. This study aimed to determine how CAM was used and how media affected patients in online cancer support groups (OCSG). @*Materials and Methods@#Between August 18 and September 12, 2021, an online survey was conducted among the members of OCSG. The survey consisted of five parts: baseline characteristics, attitudes toward and experience with CAM, source of information and reliabilities, experience with anthelmintics, and online health information literacy and usage. @*Results@#Among the 644 responders, a total of 221 patients with cancer completed the survey, and 78.2% (173/221) used CAM. The users’ median age was 52 years; 46.8% were males, and 43.9% had metastatic disease. Fifty-three CAM users (30.6%) discussed their physicians about CAM. In addition, 16.2% (28/173) of CAM users had the experience of anthelmintics. The use of anthelmintics in patients with cancers was associated with younger age (odds ratio [OR], 0.89; 95% confidence interval [CI], 0.84 to 0.95), metastatic disease (OR, 10.88; 95% CI, 3.39 to 34.86), previous exposure to CAM information (OR, 5.57; 95% CI, 1.01 to 30.72), experience with more types of CAM (OR, 1.98; 95% CI, 1.29 to 3.05), and side effects (OR, 5.10; 95% CI 1.46 to 17.75). @*Conclusion@#Use of anthelmintics, a CAM of which information is widespread online, is affected by several factors. This study will provide essential information for developing a CAM management strategy in this digital age.
ABSTRACT
Clear cell acanthoma is a rare benign tumor, which usually presents as a solitary erythematous to brown colored papule or nodule, with a predilection for the lower leg of t hemiddle-aged and older individuals. An 11-year-old male presented with a 1-month history of bilateral brownish colored and exudative plaques on the both areolae.Histopathologic examination showed psoriasiform proliferation of pale keratinocytes and neutrophil exocytosis. Therefore, the patient was diagnosed with clear cell acanthoma. Typically, clear cell acanthoma occurs as a unilateral lesion on the leg in an adult. However, our case shows a bilateral lesion as well as the uncommon age and site.To our knowledge, this case of bilateral clear cell acanthoma has been rarely reported in Korea. Herein, we report a case of clear cell acanthoma that occurred on both areolae in a child.
ABSTRACT
no abstract available.
ABSTRACT
Purpose@#This study evaluated the rates and annual trends of pediatric CT scans in South Korea using a nationwide population-based database. @*Materials and Methods@#Data regarding pediatric CT scan usage between 2012 and 2017 were retrieved from the health insurance review and assessment service. Data on the age, sex, diagnosis, and the anatomical area of involved patients were also extracted. @*Results@#A total of 576376 CT examinations were performed among 58527528 children aged below 18 years (9.8 scans/1000 children), and the number of CT examinations per 1000 children was noted to have increased by 23.2% from 9.0 in 2012 to 11.0 in 2017. Specifically, the number of CT examinations increased by 32.9% for the 6–12 years of age group (7.4/1000 to 9.8/1000) and by 34.0% for the 13–18 years of age group (11.4/1000 to 15.3/1000). Moreover, majority of the CT scans were limited to the head (39.1%), followed by the extremities (32.5%) and the abdomen (13.7%). Notably, the number of extremity CT scans increased by 83.6% (2.3/1000 to 4.2/1000), and its proportion as compared to other scans increased from 25.3% to 37.7%. @*Conclusion@#CT scans in the pediatric population increased continuously from 2012 to 2017 at an annual rate of 4.4%. Therefore, physicians should balance the benefits of CT with its potential harms from associated radiation exposure in pediatric patients.
ABSTRACT
Background@#Acral melanoma is the most common subtype of melanoma among Koreans, and regional or distant metastasis is an indicator of poor prognosis. Yes-associated protein (YAP), a key effector of the Hippo pathway, is known to induce tumor progression and metastasis in various cancers. @*Objective@#We aimed to analyze the clinical and histopathological characteristics of acral melanoma among Koreans and to evaluate their association with YAP expression. @*Methods@#This retrospective review included 27 patients with acral melanoma. Clinical features including age, sex, lesion site, and stage were obtained from the medical records and images. Biopsy slides of patients with acral melanoma were reviewed, and immunohistochemical staining for YAP was performed. @*Results@#The rate of YAP expression was significantly higher in patients having acral melanoma with regional or distant lymph node (LN) metastasis than in those without metastasis (n=4/5, 80.0% vs. n=2/22, 9.1%; p=0.004). Histopathologically, the rate of YAP expression was higher in patients having acral melanoma with lymphovascular invasion than in those without lymphovascular invasion (n=4/8, 50.0% vs. n=2/19, 10.5%; p=0.044). Among the 27 lesions, 14 (51.9%) were on stress-bearing sites such as the forefoot and heel. However, the rate of YAP expression did not differ significantly between weight-bearing and non-weight-bearing locations (p=0.834). @*Conclusion@#YAP expression is significantly associated with metastasis, especially LN metastasis, in patients with acral melanoma. Therefore, YAP expression may be used as a prognostic factor for LN metastasis and a target for novel treatments in patients with melanoma.
ABSTRACT
Pleomorphic dermal sarcoma (PDS), formerly known as malignant fibrous histiocytoma (MFH), is a rare mesenchymal tissue tumor. A 40-year-old male presented with a 2-month history of a well-defined, solitary, round, palpable protruding mass with central ulceration, 1.5 cm in diameter. Punch biopsy showed tumor cells of variable size and hyperchromatic nuclei with frequent bizarre atypical cells and atypical mitoses arranged in a storiform-pleomorphic pattern in the entire dermis. After complete resection, PDS was diagnosed because the lesion had invaded the deep subcutaneous fat. Because MFH has been renamed according to the World Health Organization new classification system, we reclassified the 10 cases that have been reported as MFH in Korea. Nine cases were renamed undifferentiated pleomorphic sarcoma, with only one being renamed mucofibrosarcoma. Herein, we report a rare case of PDS treated with surgical excision with a review of the literature.
ABSTRACT
Background@#Skin aging can be divided into intrinsic and extrinsic processes, and occur due to several factors. Although the interest in skin youthfulness is increasing globally, research on facial skin youthfulness and lifestyle is limited. @*Objective@#This study aimed to evaluate the association between facial skin youthfulness and biophysical facial skin parameters in Korean women over 50 years of age. We further investigated lifestyle factors that make people appear younger than their chronological age. @*Methods@#We surveyed the essential information and lifestyle of subjects by questionnaires, and measured the biophysical parameters of the facial skin. We then performed clinical facial assessments, and the values were compared with the chronologic age. The associations between age differences, biophysical parameters, and living habits were evaluated. @*Results@#We identified a positive correlation between age and melanin index (r=0.245, p＜0.001) and erythema index (r=0.119, p=0.002). The melanin index was statistically significantly lower in the group without regular outdoor activities (144.66±43.24 vs. 137.00±55.48, p=0.043). The melanin index and erythema index were the significant differences that defined younger perceived age than chronological age. The perceived age was younger in the group who wore a hat when performing outdoor activities than the group who did not (3.70±1.84 vs. 3.40±1.94, p=0.034). @*Conclusion@#To retain youthful skin, it is essential to reduce sun exposure, as this factor can affect the melanin and erythema indices by inducing photoaging. Therefore, avoiding the sun bia proper methods, such as wearing a hat and sunscreen during outdoor activities, is recommended to maintain skin youthfulness.
ABSTRACT
Median raphe cysts (MRCs) are rare benign lesions that occur as a result of congenital defects during the embryological development of the male genitalia in the fetal period. It can develop anywhere along the midline, from the meatus to the anus. Pigmented MRCs are rare subtypes that contain melanin pigments or melanocytes in the epithelium, and there are only eight such cases reported worldwide. We report herein a case of pigmented MRC in the perineum of a 3-year-old boy. The clinical features include a linear tubular structure and foreign body granuloma at the tip of the linear cystic lesion and rare histological findings of pigmented cuboidal epithelium and squamous epithelium. Immunohistochemical staining revealed strong positivity for c-kit in the pigmented cuboidal epithelium. In this report, we discuss a rare case of pigmented MRC with a mixed type of squamous epithelium and pigmented cuboidal epithelium and review the associated literature.
ABSTRACT
Background@#Rosacea is a common chronic inflammatory skin disease, which primarily affects the central face. In 2002, the National Rosacea Society (NRS) committee developed the first diagnostic criteria for rosacea, based on its subtypes. The revised classification in 2017 prompted a proposal to transit from a subtyping to a phenotyping approach, reflecting current insights into rosacea pathogenesis, pathophysiology, and management. @*Objective@#This study aimed to elucidate the clinical features of rosacea and compare two diagnostic criteria in rosacea patients. @*Methods@#We performed a clinical study on 100 patients with rosacea diagnosed according to the 2002 NRS criteria. The age, sex, clinical features, subtypes, severity, and predisposing factors were evaluated using the questionnaire. In addition, we compared the 2002 and 2017 criteria, and evaluated patients if they met the revised criteria. @*Results@#According to the 2002 NRS classification, the erythematotelangiectatic type (88.0%) was the most frequent, followed by the papulopustular (43.0%), ocular (13.0%), and phymatous (6.0%) types. There were 44 overlapping cases, including 38 cases with 2 subtypes mixed and 6 cases with three subtypes. Six patients were diagnosed with rosacea using the 2002 NRS criteria but they did not satisfy the revised 2017 criteria. @*Conclusion@#We found that the diagnostic features of the 2002 criteria are too ambiguous for the diagnosis of rosacea. Therefore, we recommend that dermatologists recognize the necessity of a transition from a subtyping to a phenotyping approach, according to the 2017 criteria for the diagnosis of rosacea.
ABSTRACT
The introduction of immune checkpoint inhibitors, including anti-programmed cell death receptor-1 antibodies (anti-PD-1 Ab), such as nivolumab and pembrolizumab, represents a major breakthrough in cancer therapy. The PD-1 pathway inhibits T cell activation, maintaining a normal and balanced immune response. Anti-PD-1 Ab induces T cell activity by inhibiting the suppressive effect of PD-1 signaling on T cells. Excessive stimulation of T cells represents a potential mechanism for multiple skin lesions. To the best of our knowledge, reports on cutaneous adverse effects during treatment with anti-PD-1 Ab are limited in the dermatological literature of Korea. Herein, we report two rare cases of nivolumab-induced lichenoid drug eruption and pembrolizumab-induced psoriasis.
ABSTRACT
Background@#Hormone therapy, which includes tamoxifen and aromatase inhibitors, is the most common adjuvant therapy used for breast cancer. However, only a few studies have reported endocrine therapy induced alopecia. @*Objective@#We investigated the effects of long-term adjuvant hormone therapy on hair in patients with breast cancer, in addition to patients’ concerns and current treatment for hair loss. @*Methods@#Patients completed a questionnaire that included information on self-perceived hair changes after each adjuvant therapy session, distress, and current treatment for hair loss. Using a folliscope, we measured hair density and thickness in each patient and in healthy controls. @*Results@#The study included 93 patients with breast cancer (mean age 51.9±9.8 years). The density and hair thickness were 106.36±21.85 hairs/cm2 and 0.07±0.01 mm in the patient group and 147.86±30.67 hairs/cm2 and 0.07±0.01 mm in the control group (n=98, mean age 52.10±8.40 years), respectively. The mean hair density was significantly lower in the patient group than in the control group; however, no statistically significant intergroup difference was observed in hair thickness. Among 76 patients who perceived hair changes after adjuvant therapy, 71.1% (n=54) were distressed with regard to hair changes. However, only 7.8% of the patients, including two who were treated by dermatologists, currently received treatment for hair changes. @*Conclusion@#Dermatologists should be familiar with hair changes in patients with breast cancer and provide appropriate education to encourage patients to consult dermatologists for hair loss and thinning after breast cancer treatment.
ABSTRACT
Background@#Cobalt is an important contact allergen and is contained mainly in metal products. Recent studies have reported an association between leather exposure and cobalt allergic contact dermatitis. However, there is no study on this subject in Korea. @*Objective@#The aim of this study is to examine cobalt content and release from leather sofas, shoes, watch straps, and gloves sold in Korea, and to investigate leather exposure in cobalt allergic contact dermatitis. @*Methods@#We collected 38 leather samples of leather sofa, 15 leather shoes, 8 leather watch straps, and 10 leather gloves sold in Korea. The cobalt spot test and inductively coupled plasma optical emission spectrometry were used to confirm cobalt content and release from leather samples. @*Results@#All 71 leather samples were negative for cobalt in the spot test. No cobalt was found in the 35 leathers tested by inductively coupled plasma optical emission spectrometry. @*Conclusion@#Unlike previous studies, cobalt was not identified in leather in this study. Therefore, the possibility of cobalt allergic contact dermatitis caused by leather is relatively low in Korea. However, further studies with larger numbers of leather samples are needed to obtain more accurate results.
ABSTRACT
Background@#Multiple members of the transforming growth factor-β (TGF-β) superfamily have well-established roles in bone homeostasis. Anti-Müllerian hormone (AMH) is a member of TGF-β superfamily of glycoproteins that is responsible for the regression of fetal Müllerian ducts and the transcription inhibition of gonadal steroidogenic enzymes. However, the involvement of AMH in bone remodeling is unknown. Therefore, we investigated whether AMH has an effect on bone cells as other TGF-β superfamily members do. @*Methods@#To identify the roles of AMH in bone cells, we administered AMH during osteoblast and osteoclast differentiation, cultured the cells, and then stained the cultured cells with Alizarin red and tartrate-resistant acid phosphatase, respectively. We analyzed the expression of osteoblast- or osteoclast-related genes using real-time polymerase chain reaction and western blot. @*Results@#AMH does not affect bone morphogenetic protein 2-mediated osteoblast differentiation but inhibits receptor activator of nuclear factor-κB (NF-κB) ligand-induced osteoclast differentiation. The inhibitory effect of AMH on osteoclast differentiation is mediated by IκB-NF-κB signaling. @*Conclusions@#AMH negatively regulates osteoclast differentiation without affecting osteoblast differentiation.
ABSTRACT
Sarcopenia is a disease characterized by age-related decline of skeletal muscle mass and function. The molecular mechanisms of the pathophysiology of sarcopenia form a complex network due to the involvement of multiple interconnected signaling pathways. Therefore, signaling receptors are major targets in pharmacological strategies in general. To provide a rationale for pharmacological interventions for sarcopenia, we herein describe several druggable signaling receptors based on their role in skeletal muscle homeostasis and changes in their activity with aging. A brief overview is presented of the efficacy of corresponding drug candidates under clinical trials. Strategies targeting the androgen receptor, vitamin D receptor, Insulin-like growth factor-1 receptor, and ghrelin receptor primarily focus on promoting anabolic action using natural ligands or mimetics. Strategies involving activin receptors and angiotensin receptors focus on inhibiting catabolic action. This review may help to select specific targets or combinations of targets in the future.
ABSTRACT
Background@#Single-event multilevel surgery (SEMLS) and hip reconstructive surgery (HRS) often cause intraoperative bleeding, consequently increasing the probability of transfusion and postoperative laboratory changes. Therefore, it is important to assess risk factors to predict the amount of blood loss. This study aimed to evaluate blood loss, its influencing factors, and the related laboratory changes during SEMLS and HRS in patients with cerebral palsy (CP). @*Methods@#We retrospectively examined consecutive CP patients who underwent SEMLS and HRS. Surrogate markers of blood loss, including preoperative and postoperative hemoglobin (Hb), hematocrit, and changes in Hb concentration, were assessed. Albumin, aspartate aminotransferase (AST), alanine aminotransferase (ALT), and creatine levels were also analyzed for related laboratory changes. Risk factors were analyzed using multiple regression and logistic regression models. @*Results@#The overall cohort comprised 1,188 patients. Of them, 1,007 and 181 underwent SEMLS and HRS, respectively. Furthermore, 72 of 181 patients underwent a concomitant Dega osteotomy. The regression model showed that low preoperative Hb concentration (p < 0.001), high albumin level (p = 0.007), low body mass index (BMI) (p = 0.002), and bilateral HRS (p < 0.001) were significant risk factors of postoperative anemia. Valproate medication was associated with Hb drop, and the risk factors for Hb level < 8 g/dL on postoperative day 2 were bilateral HRS and Dega osteotomy in the HRS subgroup. In total, 21.6% had elevated AST levels on postoperative day 2, and bilateral HRS (p < 0.001), Gross Motor Function Classification System (GMFCS) level V (p = 0.041), Dega osteotomy (p < 0.001), and high preoperative AST level (p < 0.001) increased the risk of AST elevation. @*Conclusions@#We have summarized the estimated blood loss and related laboratory changes after SEMLS and HRS in patients with CP and identified the risk factors. Clinical guidelines should be accordingly developed to include assessment of these risk factors and their impact in the outcomes of CP patients undergoing SEMLS and HRS.
ABSTRACT
Poroid hidradenoma (PH) is a rare benign tumor that shows differentiation of the eccrine sweat gland. It occurs mainly in adults, presenting as a 0.5 to 2 cm-sized intradermal nodule, mostly on the head, extremities, trunk and neck. We report two rare cases of PH, one on the face and the other on the heel. The first patient was a 50-year-old male who had a solitary, skin-colored nodule on his right temple for 6 months.The second patient was a 67-year-old female who presented with a solitary, bean-sized, tender nodule on her left heel for 1 year. The common histological examination finding was a well-circumscribed tumor composed of solid portions and large cystic spaces in the center. The tumor cells consisted of small, monomorphic poroid cells and large cuticular cells in both cases. To our knowledge, only few cases of PH have been reported. Herein, we report two rare cases of PHs with literature review
ABSTRACT
Background@#Rosacea is a common chronic inflammatory skin disease, which primarily affects the central face. In 2002, the National Rosacea Society (NRS) committee developed the first diagnostic criteria for rosacea, based on its subtypes. The revised classification in 2017 prompted a proposal to transit from a subtyping to a phenotyping approach, reflecting current insights into rosacea pathogenesis, pathophysiology, and management. @*Objective@#This study aimed to elucidate the clinical features of rosacea and compare two diagnostic criteria in rosacea patients. @*Methods@#We performed a clinical study on 100 patients with rosacea diagnosed according to the 2002 NRS criteria. The age, sex, clinical features, subtypes, severity, and predisposing factors were evaluated using the questionnaire. In addition, we compared the 2002 and 2017 criteria, and evaluated patients if they met the revised criteria. @*Results@#According to the 2002 NRS classification, the erythematotelangiectatic type (88.0%) was the most frequent, followed by the papulopustular (43.0%), ocular (13.0%), and phymatous (6.0%) types. There were 44 overlapping cases, including 38 cases with 2 subtypes mixed and 6 cases with three subtypes. Six patients were diagnosed with rosacea using the 2002 NRS criteria but they did not satisfy the revised 2017 criteria. @*Conclusion@#We found that the diagnostic features of the 2002 criteria are too ambiguous for the diagnosis of rosacea. Therefore, we recommend that dermatologists recognize the necessity of a transition from a subtyping to a phenotyping approach, according to the 2017 criteria for the diagnosis of rosacea.