BACKGROUND/OBJECTIVES: UV radiation is a major factor contributing to DNA damage in skin cells, including stem cells and mesenchymal stem cells, leading to the depletion of these crucial cells. This study examined whether a mixture of Indian gooseberry and barley sprout (IB) could inhibit UVB irradiation and 3-isobutyl-1-methylxanthine (IBMX)-induced photoaging and oxidative stress in the skin using HaCaT, Hs27, and B16F10 cells.MATERIALS/METHODS: The moisturizing-related factors, the collagen synthesis-related c-Jun N-terminal kinase (JNK)/c-Fos/c-Jun/matrix metalloproteinases (MMPs) pathway, and the melanogenesis-related cyclic adenosine monophosphate (cAMP)/protein kinase A (PKA)/cAMP-responsive binding protein (CREB)/melanocyte inducing transcription factor (MITF)/tyrosinase-related protein (TRP)/tyrosinase activation pathways were analyzed in vitro by an enzyme-linked immunosorbent assay, real-time polymerase chain reaction, and Western blot analysis. RESULTS: The IB complex increased the hyaluronic acid and sphingomyelin levels and the collagenase inhibitory activity, enhanced hydration-related factors, including collagen, hyaluronic acid synthase (HAS), elastin, long chain base subunit 1 (LCB1) (serine palmitoyltransferase; SPT), and delta 4-desaturase sphingolipid 1 (DEGS1), modulated the inflammatory cytokines levels, antioxidant enzyme activities and the NF-κB/MMPs/cyclooxygenase-2 (COX-2) pathway in UVB-irradiated HaCaT cells, and inhibited wrinkle formation by down-regulation of the JNK/c-Fos/c-Jun/MMP pathway and up-regulation of the transforming growth factor-β receptor I (TGFβR1)/small mothers against decapentaplegic homolog (Smad3)/procollagen type I pathway in UVB-irradiated Hs27 cells. Moreover, the IB complex prevented melanin production by down-regulating the PKA/CREB/MITF/TRP-1/TRP-2 pathway in IBMX-induced B16F10 cells. CONCLUSION These findings suggest that the IB complex has the potential to serve as a safeguard, shielding the skin from UVB radiation-induced photo-damage.

Esophageal perforation can lead to serious complications, and rapid diagnosis and treatment significantly affect the prognosis. Endoscopic vacuum-assisted closure (EndoVAC) therapy is widely accepted as a safe, well-tolerated, effective, versatile and practical procedure for the management of esophageal perforation in selected patients. We report the successful use of EndoVAC therapy for management of an esophageal perforation secondary to foreign body removal. A 56-year-old man presented to the emergency department for evaluation of chest pain after swallowing the plastic shell of a pill. Emergency endoscopy revealed an esophageal wall laceration (approximately 3 cm) and microperforation. The esophageal laceration and microperforation were limited to the mid-esophagus. The patient underwent EndoVAC therapy, which was repeated every 3–4 days for a total of six sessions over a period of 21 days. We observed improvement in the esophageal injury with granulation tissue formation during the fifth session. Subsequent follow-up evaluation, including esophagography and chest computed tomography confirmed complete healing of the esophageal injury. Following resumption of diet, the patienton a was discharged without any complications.

Background: New genome sequencing technologies with enhanced diagnostic efficiency have emerged. Rapid and timely diagnosis of treatable rare genetic diseases can alter their medical management and clinical course. However, multiple factors, including ethical issues, must be considered. We designed a targeted sequencing platform to avoid ethical issues and reduce the turnaround time. Methods: We designed an automated sequencing platform using dried blood spot samples and a NEOseq_ACTION panel comprising 254 genes associated with Mendelian diseases having curable or manageable treatment options. Retrospective validation was performed using data from 24 genetically and biochemically confirmed patients. Prospective validation was performed using data from 111 patients with suspected actionable genetic diseases. Results: In prospective clinical validation, 13.5% patients presented with medically actionable diseases, including short- or medium-chain acyl-CoA dehydrogenase deficiencies (N=6), hyperphenylalaninemia (N=2), mucopolysaccharidosis type IVA (N=1), alpha thalassemia (N=1), 3-methylcrotonyl-CoA carboxylase 2 deficiency (N=1), propionic acidemia (N=1), glycogen storage disease, type IX(a) (N=1), congenital myasthenic syndrome (N=1), and citrullinemia, type II (N=1). Using the automated analytic pipeline, the turnaround time from blood collection to result reporting was <4 days. Conclusions This pilot study evaluated the possibility of rapid and timely diagnosis of treatable rare genetic diseases using a panel designed by a multidisciplinary team. The automated analytic pipeline maximized the clinical utility of rapid targeted sequencing for medically actionable genes, providing a strategy for appropriate and timely treatment of rare genetic diseases.

Background/Aims: The protective effects of vitamin D and calcium on colorectal neoplasms are known. Bone mineral density (BMD) may be a reliable biomarker that reflects the long-term anticancer effect of vitamin D and calcium. This study aimed to evaluate the association between BMD and colorectal adenomas including high-risk adenoma. Methods: A multicenter, cross-sectional, case-control study was conducted among participants with average risk of colorectal cancer who underwent BMD and screening colonoscopy between 2015 and 2019. The main outcome was the detection of colorectal neoplasms. The variable under consideration was low BMD (osteopenia/osteoporosis). The logistic regression model included baseline demographics, components of metabolic syndrome, fatty liver disease status, and aspirin and multivitamin use. Results: A total of 2,109 subjects were enrolled. The mean age was 52.1±10.8 years and 42.6% were male. The adenoma detection rate was 43%. Colorectal adenoma and high-risk adenoma were both more prevalent in subjects with low BMD than those with normal BMD (48.2% vs 38.8% and 12.1% vs 9.1%). In the univariate analysis, old age, male sex, smoking, metabolic components, fatty liver, and osteoporosis were significantly associated with the risk of adenoma and high-risk adenoma. In the multivariate analysis, osteoporosis was independently associated with risk of colorectal adenoma (odds ratio [OR], 1.65; 95% confidence interval [CI], 1.11 to 2.46; p=0.014) and high-risk adenoma (OR, 1.94; 95% CI, 1.14 to 3.29; p=0.014). Conclusions Osteoporosis is an independent risk factor of colorectal adenoma and high-risk adenoma

First-rib fractures may be caused due to high energy direct trauma, violent muscle contracture, or chronic fatigue. Isolated fractures are very rarely noted and may be a potential cause of nonspecific shoulder pain in overhead athletes. Although the exact mechanism underlying first-rib fractures caused by sudden muscular contracture is still not known, many repetitive activities have been associated with with these unique fractures. We present a case of an acute first-rib fracture in a rookie professional baseball pitcher. He returned to the same level of throwing in 5 months with rest and rehabilitation.

PURPOSE: With the emergence of next-generation sequencing (NGS) technology, profiling a wide range of genomic alterations has become a possibility resulting in improved implementation of targeted cancer therapy. In Asian populations, the prevalence and spectrum of clinically actionable genetic alterations has not yet been determined because of a lack of studies examining high-throughput cancer genomic data. MATERIALS AND METHODS: To address this issue, 1,071 tumor samples were collected from five major cancer institutes in Korea and analyzed using targeted NGS at a centralized laboratory. Samples were either fresh frozen or formalin-fixed, paraffin embedded (FFPE) and the quality and yield of extracted genomic DNA was assessed. In order to estimate the effect of sample condition on the quality of sequencing results, tissue preparation method, specimen type (resected or biopsied) and tissue storage time were compared. RESULTS: We detected 7,360 non-synonymous point mutations, 1,164 small insertions and deletions, 3,173 copy number alterations, and 462 structural variants. Fifty-four percent of tumors had one or more clinically relevant genetic mutation. The distribution of actionable variants was variable among different genes. Fresh frozen tissues, surgically resected specimens, and recently obtained specimens generated superior sequencing results over FFPE tissues, biopsied specimens, and tissues with long storage duration. CONCLUSION: In order to overcome, challenges involved in bringing NGS testing into routine clinical use, a centralized laboratory model was designed that could improve the NGS workflows, provide appropriate turnaround times and control costs with goal of enabling precision medicine.
Academies and Institutes ; Asian Continental Ancestry Group ; DNA ; Humans ; Korea ; Methods ; Paraffin ; Point Mutation ; Precision Medicine ; Prevalence

PURPOSE: This study aimed to evaluate the diagnostic characteristics and clinical results after surgical repair of traumatic superimposed posterior rotator cuff tear in the setting of preexisting retracted supraspinatus tendon tear.METHODS: A total of 20 patients (mean age, 62.1 years) were included and all patients had significant traumatic events mean 3.7 weeks prior to the surgery. Preoperative acromiohumeral distance (AHD, mean 3.2 mm) and arthritis change were analyzed on plain radiograph and magnetic resonance imaging was evaluated for the nature and extent of torn tendon, and fatty degeneration (FD) of all cuff muscles to validate if the tears were traumatic or chronic.RESULTS: Complete repairs were achieved in 15 patients and partial repair including posterior cuff in five. Functional and radiographic results were statistically evaluated and repair integrities were assessed with ultrasound at average 17.3 months. Overall functional outcome scores were significantly improved and 17 patients (85%) were satisfied with their symptoms. AHD was significantly recovered (mean, 6.7 mm), but two patients showed progression of arthritic change. Retears after the complete repair were three patients (20%), who showed poor outcome, with advanced preoperative FD of posterior cuff muscles. Five patients with partial repair of posterior cuff revealed improved functional score with no sign of retear of posterior cuff on ultrasound.CONCLUSION: Early recognition of traumatic superimposed posterior cuff tears and surgical repair can reliably restore shoulder function, and partial repair of posterior cuff also can be expected favorable outcomes in supraspinatus tear with advanced FD.
Arthritis ; Humans ; Magnetic Resonance Imaging ; Muscles ; Rotator Cuff ; Shoulder ; Tears ; Tendons ; Ultrasonography

PURPOSE: This study examined the clinical outcomes of comminuted intraarticular distal radius fractures treated by an anatomical reduction using a brick-work technique. MATERIALS AND METHODS: Seventeen patients with AO/OTA type 23-C3 distal radius fractures were enrolled in this study. An anatomical reduction of the articular surface was achieved using a brick-work technique through the dorsal approach and dorsal plates were used for fixation. The postoperative functional results were assessed with the range of motion of the wrist and the modified Mayo wrist score (MMWS). In addition, the radial length, radial inclination, volar tilt, and Lidstrom score were evaluated from the radiology results. The mean postoperative follow-up period was 13.6 months. RESULTS: All patients showed bony union and the mean range of motion of the injured wrists was 94% (92% to 95%) of the uninjured side. The mean MMWS was 85.3, and the functional results were excellent in 12 patients, good in 4, and fair in one at the final follow-up. Based on the final radiographic measurements, the radial length, volar tilt, and radial inclination were 11.4 mm (10.0 to 13.5 mm), 6.6° (−1.8° to 9.2°), and 21.3° (20.1° to 25.7°), respectively. The radiologic results according to the Lidstrom score were excellent in 14 patients and good in three. CONCLUSION: An anatomical reduction with the brick-work technique is relatively easy, results in a reproducible clinical outcome, and could be a safe and effective treatment option for severe comminuted intraarticular distal radius fractures that are not amenable to volar plate fixation.
Follow-Up Studies ; Humans ; Radius Fractures ; Radius ; Range of Motion, Articular ; Wrist

Surgery for pathologic hip fracture poses significant challenges regarding the fixation of fracture and management of the original tumor lesion. An extensive destruction of the femoral neck and intertrochanteric region by benign or malignant lesions complicated by a pathological fracture generally necessitates total hip arthroplasty; however, in adolescents and young adults, preservation of the hip is preferable. We present a 14-year-old female patient, who sustained a pathological intertrochanteric fracture through a pre-existing aneurysmal bone cyst. Several operative interventions with internal fixation and bone graft were unsuccessful, and combined nonunion and progression of osteolysis around the compression hip screw eventually caused femoral head collapse, mimicking osteonecrosis. Hip preservation and resolution of the original tumor were achieved by free vascularized fibular graft.
Adolescent ; Aneurysm ; Arthroplasty, Replacement, Hip ; Bone Cysts ; Female ; Femur Neck ; Fractures, Spontaneous ; Head* ; Hip ; Humans ; Osteolysis ; Osteonecrosis ; Transplants* ; Young Adult

BACKGROUND: Iodine is an intrinsic element of thyroid hormone, which is essential for childhood growth and development. The Ideal Breast Milk (IBM) cohort study aims to evaluate the effects of maternal iodine status during pregnancy and lactation on maternal thyroid function, offspring growth and development, and offspring thyroid function. METHODS: The IBM cohort study recruited pregnant women from Seoul National University Hospital between June 2016 and August 2017, followed by enrollment of their offspring after delivery. For the maternal participants, iodine status is evaluated by urinary iodine concentration (UIC) and dietary records in the third trimester and at 3 to 4 weeks and 12 to 15 months postpartum. For the child participants, cord blood sampling and UIC measurements are performed at birth. At 3 to 4 weeks of age, UIC and breastmilk iodine concentrations are measured. At 12 to 15 months of age, growth and development are assessed and measurements of UIC, a thyroid function test, and ultrasonography are performed. RESULTS: A total of 198 pregnant women in their third trimester were recruited. Their mean age was 35.1±3.5 years, and 78 (39.4%) of them were pregnant with twins. Thirty-three (16.7%) of them had a previous history of thyroid disease. CONCLUSION: Korea is an iodine-replete area. In particular, lactating women in Korea are commonly exposed to excess iodine due to the traditional practice of consuming brown seaweed soup postpartum. The study of the IBM cohort is expected to contribute to developing guidelines for optimal iodine nutrition in pregnant or lactating women.
Breast* ; Child ; Cohort Studies* ; Cordocentesis ; Diet Records ; Female ; Growth and Development* ; Humans ; Infant ; Iodine* ; Korea ; Lactation* ; Milk, Human* ; Parturition ; Postpartum Period ; Pregnancy Trimester, Third ; Pregnancy* ; Pregnant Women ; Prospective Studies* ; Seaweed ; Seoul ; Thyroid Diseases ; Thyroid Function Tests ; Thyroid Gland* ; Twins ; Ultrasonography