Purpose: We provide evidence for the reclassification of the BRCA1:c.5017_5019del variant by presenting the clinicopathological characteristics, clinical outcomes, and family history of breast or ovarian cancer in 17 patients with this variant. Methods: This study included breast or ovarian cancer patients tested for BRCA1/2 genes between January 2008 and June 2020 at 10 medical centers in Korea. We retrospectively reviewed 17 probands from 15 families who had the BRCA1:c.5017_5019del variant according to the electronic medical records. Results: We present 10 breast cancer patients and 7 ovarian cancer patients from 15 families identified as having BRCA1:c.5017_5019del and a total of 19 cases of breast cancer and 14 cases of ovarian cancer in these families. The ratio of breast-to-ovarian cancer was 1.3:1. Breast cancer patients with this variant showed a rich family history of breast or ovarian cancer, 8 patients (80.0%). The mean age at diagnosis was 45.4 years and 6 patients (60.0%) were categorized into hormone-receptor–negative breast cancer. Also, the ovarian cancer patients with this variant showed strong family histories of breast and/or ovarian cancer in 4 patients (57.1%). Conclusion We presented clinical evidence for the reclassification of BRCA1:c.5017_5019del as a likely pathogenic variant (LPV). Reclassification as LPV could result in the prophylactic treatment and medical surveillance of probands, family testing recommendations, and appropriate genetic counseling of their families.

The KOrean College of Rheumatology BIOlogics and targeted therapy (KOBIO) registry is a nationwide observational cohort that captures detailed data on exposure of patients to biologic and targeted synthetic disease-modifying anti-rheumatic drugs (DMARDs). This registry was launched in December 2012 with an aim to prospectively investigate clinical manifestations and outcomes of patients with rheumatoid arthritis (RA), ankylosing spondylitis, and psoriatic arthritis who initiated a biologic or targeted synthetic DMARD or switched to another. Demographic data, disease activity, current treatment, adverse events, terms based on Medical Dictionary for Regulatory Activities, and so on are registered for patients who are then followed up annually in a web-based unified platform. The KOBIO registry also recruits and collects data of patients with RA on conventional DMARDs for comparison. As of today, more than 5,500 patients were enrolled from 47 academic and community Rheumatology centers across Korea. The KOBIO registry has evolved to become a powerful database for clinical research to improve clinical outcomes and quality of treatment.

Background: The placement of a closed suction drain is indispensable for preventing serious infections; however, closed suction drains are inevitably accompanied by increases in local infections, pain, and length of hospital stay, and delays in breast cancer treatment including postoperative chemotherapy and radiotherapy. We analyzed predictive factors of total drainage volume and duration. Methods: Among patients who were diagnosed with primary breast cancer between January 2016 and December 2017, we retrospectively analyzed those who underwent immediate implant-based breast reconstruction. Factors that could affect the total volume and duration of drainage, including lipo-prostaglandin E1 use, preoperative chemotherapy, resected breast issue weight, age, body mass index (BMI), serum white blood cell count, erythrocyte sedimentation rate, and C-reactive protein (CRP) level, were analyzed. Results: The mean volume and duration of drainage were 1,213.6 mL and 14.8 days respectively. BMI and CRP on postoperative day (POD) 1 were correlated with the total drainage volume. Age, BMI, and resected breast tissue weight were correlated with the drainage duration. Multiple regression analysis showed that CRP level on POD 1, age, and resected breast tissue weight significantly affected the drainage duration. Multiple regression analysis also showed that the total drainage volume was significantly affected by BMI and CRP level on POD 1. Conclusions The factors found to affect the duration of drainage in patients undergoing implant-based breast reconstruction were CRP on POD 1, age, resected breast tissue weight, and BMI. The CRP level on POD 1 and BMI influenced the total volume of drainage.

The KOrean College of Rheumatology BIOlogics and targeted therapy (KOBIO) registry is a nationwide observational cohort that captures detailed data on exposure of patients to biologic and targeted synthetic disease-modifying anti-rheumatic drugs (DMARDs). This registry was launched in December 2012 with an aim to prospectively investigate clinical manifestations and outcomes of patients with rheumatoid arthritis (RA), ankylosing spondylitis, and psoriatic arthritis who initiated a biologic or targeted synthetic DMARD or switched to another. Demographic data, disease activity, current treatment, adverse events, terms based on Medical Dictionary for Regulatory Activities, and so on are registered for patients who are then followed up annually in a web-based unified platform. The KOBIO registry also recruits and collects data of patients with RA on conventional DMARDs for comparison. As of today, more than 5,500 patients were enrolled from 47 academic and community Rheumatology centers across Korea. The KOBIO registry has evolved to become a powerful database for clinical research to improve clinical outcomes and quality of treatment.

Coronavirus disease 2019 (COVID-19) is a global pandemic that had affected more than eight million people worldwide by June 2020. Given the importance of the presence of diabetes mellitus (DM) for host immunity, we retrospectively evaluated the clinical characteristics and outcomes of moderate-to-severe COVID-19 in patients with diabetes.

Post-traumatic hematoma formation is a common complication of contusion. If the hematoma is large enough to aspirate or drain, it can be treated quickly and appropriately. However, if the hematoma is small or concealed by local swelling, it may be overlooked and left untreated. In most cases, a hematoma will resolve following conservative treatment; however, associated infection or muscle fibrosis can occur. Herein, we present the case of a patient with a chin deformity caused by a post-traumatic hematoma. The deformity was treated using botulinum toxin and triamcinolone acetonide injections as minimally invasive treatments. The course of treatment was good.
Botulinum Toxins ; Chin ; Congenital Abnormalities ; Contusions ; Facial Asymmetry ; Fibrosis ; Hematoma ; Humans ; Triamcinolone Acetonide

BACKGROUND: Hypoglycemia is an important complication in the treatment of patients with diabetes. We surveyed the insight by patients with diabetes into hypoglycemia, their hypoglycemia avoidance behavior, and their level of worry regarding hypoglycemia. METHODS: A survey of patients with diabetes, who had visited seven tertiary referral centers in Daegu or Gyeongsangbuk-do, Korea, between June 2014 and June 2015, was conducted. The survey contained questions about personal history, symptoms, educational experience, self-management, and attitudes about hypoglycemia. RESULTS: Of 758 participants, 471 (62.1%) had experienced hypoglycemia, and 250 (32.9%) had experienced hypoglycemia at least once in the month immediately preceding the study. Two hundred and forty-two (31.8%) of the participants had received hypoglycemia education at least once, but only 148 (19.4%) knew the exact definition of hypoglycemia. Hypoglycemic symptoms identified by the participants were dizziness (55.0%), sweating (53.8%), and tremor (40.8%). They mostly chose candy (62.1%), chocolate (37.7%), or juice (36.8%) as food for recovering hypoglycemia. Participants who had experienced hypoglycemia had longer duration of diabetes and a higher proportion of insulin usage. The mean scores for hypoglycemia avoidance behavior and worry about hypoglycemia were 21.2±10.71 and 23.38±13.19, respectively. These scores tended to be higher for participants with higher than 8% of glycosylated hemoglobin, insulin use, and experience of emergency room visits. CONCLUSION: Many patients had experienced hypoglycemia and worried about it. We recommend identifying patients that are anxious about hypoglycemia and educating them about what to do when they develop hypoglycemic symptoms, especially those who have a high risk of hypoglycemia.
Avoidance Learning ; Cacao ; Candy ; Daegu ; Dizziness ; Education ; Emergency Service, Hospital ; Gyeongsangbuk-do ; Hemoglobin A, Glycosylated ; Humans ; Hypoglycemia ; Insulin ; Korea ; Self Care ; Sweat ; Sweating ; Tertiary Care Centers ; Tremor

PURPOSE: To evaluate the effect of adjuvant external beam radiation therapy (EBRT) on local failure-free survival rate (LFFS) for papillary thyroid cancer (PTC) invading the trachea. MATERIALS AND METHODS: Fifty-six patients with locally advanced PTC invading the trachea were treated with surgical resection. After surgery, 21 patients received adjuvant EBRT and radioactive iodine therapy (EBRT group) and 35 patients were treated with radioactive iodine therapy (control group). RESULTS: The age range was 26–87 years (median, 56 years). The median follow-up period was 43 months (range, 4 to 145 months). EBRT doses ranged from 50.4 to 66 Gy (median, 60 Gy). Esophagus invasion and gross residual disease was more frequent in the EBRT group. In the control group, local recurrence developed in 9 (9/35, 26%) and new distant metastasis in 2 (2/35, 6%) patients, occurring 4 to 68 months (median, 37 months) and 53 to 68 months (median, 60 months) after surgery, respectively. Two patients had simultaneous local recurrence and new distant metastasis. There was one local failure in the EBRT group at 18 months after surgery (1/21, 5%). The 5-year LFFS was 95% in the EBRT group and 63% in the control group (p = 0.103). In the EBRT group, one late grade 2 xerostomia was developed. CONCLUSION: Although, EBRT group had a higher incidence of esophagus invasion and gross residual disease, EBRT group showed a better 5-year LFFS. Adjuvant EBRT may have contributed to the better LFFS in these patients.
Esophagus ; Follow-Up Studies ; Humans ; Incidence ; Iodine ; Neoplasm Metastasis ; Radiotherapy ; Recurrence ; Survival Rate ; Thyroid Gland* ; Thyroid Neoplasms* ; Trachea* ; Xerostomia

Endocrine-disrupting chemicals (EDCs) are exogenous substances that alter the structure or function of the endocrine system. 4-Tert-octylphenol (OP) is one of the most representative EDCs and has estrogenic effects. In this study, we examined the effects of ethinyl estradiol (EE) and OP on the pituitary gland, placenta, and uterus of pregnant rats. Expression levels of human chorionic gonadotropin (hCG), oxytocin (OT), and contraction-associated proteins (CAPs) were determined, and uterine contractile activity was measured by uterine contraction assay. EE and OP both increased mRNA expression of OT and hCG in the pituitary gland but not the placenta. Since OT and hCG control uterine contraction, we next examined CAP expression in the uterus. Expression of 15-hydroxyprostaglandin-dehydrogenase (PGDH) was upregulated by OP, whereas expression of other CAPs was unaffected. To clarify the effect of OP on uterine contraction in pregnant rats, uterine contraction assay was performed. The 17beta-Estradiol (E2) did not affect contraction of primary uterine cells harvested from pregnant rats in a 3D collagen gel model. However, OP showed different effects from E2 by significantly reducing contraction activity. In summary, we demonstrated that OP interferes with regulation of OT and hCG in the pituitary gland as well as PGDH in the uterus, thereby reducing uterine contraction activity. This result differs from the action of endogenous E2. Collectively, these findings suggest that exposure to EDCs such as OP during pregnancycan reduce uterine contractile ability, which may result in contraction-associated adverse effects such as metratonia, bradytocia, and uterine leiomyomata.
Animals ; Chorionic Gonadotropin ; Collagen ; Endocrine System ; Estradiol ; Estrogens ; Ethinyl Estradiol ; Oxytocin* ; Pituitary Gland ; Placenta ; Rats* ; RNA, Messenger ; Uterine Contraction ; Uterus

Gastrointestinal (GI) hemangiomas are relatively rare benign vascular tumors. The choice of an appropriate diagnostic method depends on patient age, anatomic location, and presenting symptoms. However, GI hemangiomas are not a common suspected cause of GI bleeding in children because of their rarity. Based on medical history, laboratory results, and imaging study findings, the patient could be treated with either medication or surgery. Herein, we report 3 cases of GI hemangioma found in the small bowel, rectum, and GI tract (multiple hemangiomas). Better knowledge and understanding of GI hemangioma could help reduce the delayed diagnosis rate and prevent inappropriate management. Although rare, GI hemangiomas should be considered in the differential diagnosis of GI bleeding.
Child ; Delayed Diagnosis ; Diagnosis, Differential ; Gastrointestinal Hemorrhage ; Gastrointestinal Tract ; Hemangioma* ; Hemangioma, Cavernous ; Hemorrhage* ; Humans ; Rectum ; Vascular Neoplasms