Background: Achieving a definitive genetic diagnosis of unexplained multiple congenital anomalies (MCAs) in neonatal intensive care units (NICUs) infants is challenging because of the limited diagnostic capabilities of conventional genetic tests. Although the implementation of whole genome sequencing (WGS) has commenced for diagnosing MCAs, due to constraints in resources and faculty, many NICUs continue to utilize chromosomal microarray (CMA) and/or karyotyping as the initial diagnostic approach. We aimed to evaluate the diagnostic efficacy of WGS in infants with MCAs who have received negative results from karyotyping and/or CMA. Methods: In this prospective study, we enrolled 80 infants with MCAs who were admitted to a NICU at a single center and had received negative results from CMA and/or karyotyping.The phenotypic characteristics were classified according to the International Classification of Diseases and the Human Phenotype Ontology. We assessed the diagnostic yield of trioWGS in infants with normal chromosomal result and explored the process of diagnosing by analyzing both phenotype and genotype. Also, we compared the phenotype and clinical outcomes between the groups diagnosed with WGS and the undiagnosed group. Results: The diagnostic yield of WGS was 26% (21/80), of which 76% were novel variants.There was a higher diagnostic yield in cases of craniofacial abnormalities, including those of the eye and ear, and a lower diagnostic yield in cases of gastrointestinal and genitourinary abnormalities. In addition, higher rates of rehabilitation therapy and gastrostomy were observed in WGS-diagnosed infants than in undiagnosed infants. Conclusion This prospective cohort study assessed the usefulness of trio-WGS following chromosomal analysis for diagnosing MCAs in the NICU and revealed improvements in the diagnostic yield and clinical utility of WGS.

Objective: The purpose of the present study was to identify adolescents’ suicide subgroups using five indicators (depression, anxiety, suicide ideation, and planned and attempted suicide), and explore the distinctive features of each subgroup. Methods: This study included 2,258 teenagers from four schools. Both adolescents and their parents, who voluntarily agreed to participate in the study, completed a series of self-reported questionnaires on depression, anxiety, suicide, self-harm, self-esteem, impulsivity, childhood maltreatment, and deviant behaviors. The data were analyzed using latent class analysis, a person-centered method. Results: Four classes were detected: “high risk for suicide without distress,” “high risk for suicide with distress,” “low risk for suicide with distress,” and “healthy.” The “high risk for suicide with distress” class was the most severe on all evaluated psychosocial risk factors, namely, impulsivity, low self-esteem, self-harming behaviours, deviant behaviour problems, and childhood maltreatment, followed by “high risk for suicide without distress.” Conclusion This study identified two high risk subgroups for adolescent’ suicidality, “high risk for suicide with or without distress.” Both high risk subgroups for suicide showed higher scores for all psychosocial risk factors than low risk subgroups for suicide. Our findings suggest that special attention needs to be paid to the latent class “high risk for suicide without distress,” as this group’s “cry for help” might be relatively difficult to detect. Specific interventions for each group (e.g., distress safety plans for “suicidal potential with or without emotional distress”) need to be developed and implemented.

Purpose: In this study, we investigated the prognostic implications of focal breast edema on preoperative breast magnetic resonance imaging (MRI) in patients with breast cancer. Methods: Data of 899 patients with breast cancer at a single institution were retrospectively analyzed. The patients were divided into an edema-positive group (EPG) and an edemanegative group (ENG) based on the presence of peritumoral, prepectoral, or subcutaneous edema. Two radiologists evaluated the presence or absence of focal edema and its subtypes on preoperative breast MRI. Clinicopathologic characteristics and survival outcomes were compared between the two groups and among the three subtypes using Pearson’s χ2 test, Kaplan–Meier estimator, and Cox proportional hazards model. Results: There were 399 (44.4%) and 500 (55.6%) patients in the EPG and ENG, respectively.The EPG showed significantly higher rates of axillary lymph node metastasis (55.6% vs.19.2%, p < 0.001) and lymphovascular invasion (LVI) (57.9% vs. 12.6%, p < 0.001) than the ENG. Patients in the EPG showed significantly worse overall survival (OS) rate (log-rank p < 0.001; hazard ratio [HR], 4.83; 95% confidence interval [CI], 2.56–9.11) and recurrencefree survival rate (log-rank p < 0.001; HR, 3.00; 95% CI, 1.94–4.63) than those in the ENG.After adjusting for other variables, focal breast edema remained a significant factor affecting the OS rate, regardless of the edema type. Specifically, the presence of subcutaneous edema emerged as the strongest predictor for OS with the highest HR (p < 0.001; HR, 9.10; 95% CI, 3.05–27.15). Conclusion Focal breast edema on preoperative breast MRI implies a higher possibility of LVI and axillary lymph node metastasis, which can lead to a poor prognosis. A detailed description of focal breast edema, especially subcutaneous edema, on preoperative breast MRI may provide prognostic predictions. More intensive surveillance is required for patients with breast cancer and focal preoperative breast edema.

Background and Objectives: Pilomatricoma is a frequently diagnosed skin lesion of the head and neck that may often be misdiagnosed as other skin lesions. This study evaluated whether ultrasonography (USG) or computed tomography (CT) is the most helpful imaging modality for the accurate preoperative diagnosis of pilomatricoma in head and neck regions of children and adolescents.Subjects and Method A retrospective review was conducted for 59 patients with pilomatricoma under the age of 19 years. All cases were pathologically confirmed with pilomatricoma in the head or neck. Results: Preoperative imaging examinations were performed with USG in six cases and with CT in nine cases. The accuracy of preoperative diagnosis was compared between three groups: 1) with clinical findings only, 2) with USG, and 3) with CT. The correct preoperative diagnosis was made in 18 (30.5%) of the total of 59 cases. Using only clinical findings, 10 (22.7%) out of 44 patients were diagnosed as pilomatricoma. With the addition of USG, pilomatricoma was diagnosed in 1 (16.7%) out of six cases, whereas with the addition of CT, 7 (77.8%) out of 9 cases (77.8%) were diagnosed correctly. Preoperative diagnosis of pilomatricoma with CT imaging was more accurate than clinical findings only (vs. CT; odds ratio [OR]=11.900, 95% confidence interval [CI] 2.126-66.615; p=0.001) or USG (vs. CT; OR=17.500, 95% CI 1.223-250.357; p=0.020). Conclusion In the preoperative diagnosis of pilomatricoma, imaging modalities such as CT and USG are helpful, with CT offering higher diagnostic accuracy and USG procedural benefits in younger children.

Extra-pulmonary tuberculosis usually progresses as a secondary infection from pulmonary tuberculosis, and tuberculosis of the head and neck region. Tuberculosis of ocular and periocular areas, however, is a rare disease. Among ocular tuberculosis involving the adnexal structures, a few lacrimal sac tuberculosis has been reported. We recently experienced a case of lacrimal sac tuberculosis presenting as epiphora. Examination revealed bilateral nasolacrimal duct obstruction and the patient underwent endoscopic endonasal dacryocystorhinostomy. During the operation, a biopsy taken from the unhealthy looking lacrimal sac filled with caseous necrotic tissue was suggestive of tuberculosis. Histopathological features and further systemic evaluation confirmed tuberculosis. She was treated medically with anti-tubercular agents. The new opening of the lacrimal sac was patent and epiphora was resolved successfully at a year follow up. This report highlights the requirement of high suspicion of tuberculosis, even in the nasolacrimal drainage system.

In November 2021, 14 international travel-related severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) B.1.1.529 (omicron) variant of concern (VOC) patients were detected in South Korea. Epidemiologic investigation revealed community transmission of the omicron VOC. A total of 80 SARS-CoV-2 omicron VOC-positive patients were identified until December 10, 2021 and 66 of them reported no relation to the international travel.There may be more transmissions with this VOC in Korea than reported.

We experienced an extremely rare case of proximal epithelioid sarcoma (PES) of the vulva in a 77-year-old woman. After history taking and physical examination, the patient was tentatively diagnosed as having Bartholin’s cyst in the right labium. Based on histopathological and immunohistochemical (IHC) findings, however, a final diagnosis of PES of the vulva was made. After receiving CyberKnife treatment, the patient survived but with recurrent episodes and poor prognosis. In conclusion, our case indicates that patients with PES of the vulva should be appropriately managed with radiotherapy after a differential diagnosis based on histopathological and IHC findings.

We experienced an extremely rare case of proximal epithelioid sarcoma (PES) of the vulva in a 77-year-old woman. After history taking and physical examination, the patient was tentatively diagnosed as having Bartholin’s cyst in the right labium. Based on histopathological and immunohistochemical (IHC) findings, however, a final diagnosis of PES of the vulva was made. After receiving CyberKnife treatment, the patient survived but with recurrent episodes and poor prognosis. In conclusion, our case indicates that patients with PES of the vulva should be appropriately managed with radiotherapy after a differential diagnosis based on histopathological and IHC findings.

Multiple primary malignancies are defined as the presence of more than one malignant neoplasm with a distinct histology occurring at different sites in the same individual. They are classified as synchronous or metachronous according to the diagnostic time interval of different malignancies. Diagnosis of multiple primary malignancies should avoid misclassification from multifocal/multicentric tumors or recurrent/metastatic lesions.In multiple primary malignancies, with increase in the number of primary tumors, the frequency rapidly decreases. Here, we report an exceptionally rare case of a woman who was diagnosed with metachronous sporadic sextuple primary malignancies including bilateral breast cancers (gastric cancer, ovarian Sertoli-Leydig cell tumor, left breast cancer, thyroid cancer, right breast cancer, and rectal neuroendocrine tumor). The sextuple primary malignancies in this case involved 5 different organs: the stomach, ovary, thyroid, rectum, and bilateral breasts. Further studies are needed to elucidate the current epidemiologic status of patients with multiple primary malignancies.