Fibrous dysplasia is a benign, bony abnormality that is usually asymptomatic. A 41-year-old male with minimal symptoms presented at this hospital with abnormal findings incidentally seen in his ribs on the chest radiograph. A skeletal survey showed numerous, osteolytic lesions throughout multiple bones. Diagnostic processes for malignancy of undefined primary origin (MUO) were performed in order to identify the underlying primary neoplasm, although abnormal findings were not seen except for multiple bone lesions. A computed tomography guided bone biopsy was performed on his left rib. The final diagnosis was fibrous dysplasia. This case demonstrates that fibrous dysplasia should be considered in the differential diagnosis in young patients with multiple, osteolytic lesions and without a prior history suggesting malignancy.
Adult ; Biopsy ; Bone Neoplasms ; Diagnosis ; Diagnosis, Differential ; Fibrous Dysplasia, Polyostotic* ; Humans ; Male ; Neoplasm Metastasis* ; Radiography, Thoracic ; Ribs

Neonatal diabetes mellitus (NDM) is a rare disease that occurs at less than 6 months of age and is presumably caused by a mutation in the gene that affects pancreatic beta-cell function. Approximately 80% of NDM cases reveal a known genetic mutation, and mutations in potassium inwardly rectifying channel subfamily J member 11 (KCNJ11) and ABCC8 affecting the pancreatic beta-cell adenosine triphosphate-sensitive potassium channel may be treated with oral sulfonylurea. Early recognition of mutations in KCNJ11 and ABCC8 is important because early administration of sulfonylurea can not only control blood glucose levels but also improve neurodevelopmental outcomes. In the present study, we report a case of NDM that initially presented as diabetic ketoacidosis at the age of 1 month, accompanied by seizures during hospitalization. After confirmation of the KCNJ11 gene mutation (c.989A>C), we started administering oral sulfonylurea (glimepiride) at the age of 2 months. After gradually increasing the dosage of glimepiride, insulin was discontinued at the age of 3 months. To date, the infant’s blood glucose levels have been well controlled without significant hypoglycemic events. No further episodes of seizures have occurred, and his developmental status is favorable.

Neonatal diabetes mellitus (NDM) is a rare disease that occurs at less than 6 months of age and is presumably caused by a mutation in the gene that affects pancreatic beta-cell function. Approximately 80% of NDM cases reveal a known genetic mutation, and mutations in potassium inwardly rectifying channel subfamily J member 11 (KCNJ11) and ABCC8 affecting the pancreatic beta-cell adenosine triphosphate-sensitive potassium channel may be treated with oral sulfonylurea. Early recognition of mutations in KCNJ11 and ABCC8 is important because early administration of sulfonylurea can not only control blood glucose levels but also improve neurodevelopmental outcomes. In the present study, we report a case of NDM that initially presented as diabetic ketoacidosis at the age of 1 month, accompanied by seizures during hospitalization. After confirmation of the KCNJ11 gene mutation (c.989A>C), we started administering oral sulfonylurea (glimepiride) at the age of 2 months. After gradually increasing the dosage of glimepiride, insulin was discontinued at the age of 3 months. To date, the infant’s blood glucose levels have been well controlled without significant hypoglycemic events. No further episodes of seizures have occurred, and his developmental status is favorable.

Purpose: This study aimed to investigate the changes in health behavior, mental health, and nutritional status of Korean adolescents before and after the coronavirus disease 2019 (COVID-19) pandemic outbreak. Methods: A total of 800 adolescents (12~18 years old) who participated in the 2019–2020 Korea National Health and Nutrition Examination Survey (KNHANES) were included as study subjects and divided into four groups (204 middle school boys, 172 middle school girls, 219 high school boys, and 205 high school girls). The 2019 and 2020 KNHANES data were classified into data collected before and after the COVID-19 outbreak, respectively. Results: After the COVID-19 pandemic outbreak, middle school boys showed an increased tendency toward becoming overweight and obese, with significantly increased levels of diastolic blood pressure and insulin. While there was no major change in the subjective health status among adolescents, the high school boys showed a significantly decreased physical activity after COVID-19 outbreak. Moreover, the proportion of middle school students feeling a little stressed significantly increased after the COVID-19 outbreak. The rate of skipping breakfast significantly increased in middle school girls, but the rate of having lunch with companions significantly increased among all adolescents after the COVID-19 outbreak. However, the intake of milk, vegetables, fruits, seaweeds, and pulses significantly decreased, although the intake of sugars, beverages, and seasonings significantly decreased as well, during this period. These changes may lead to an increased proportion of adolescents with insufficient intake of nutrients, including potassium, vitamin C, and riboflavin. Conclusion These results highlight the impact of COVID-19 on comprehensive changes in physical and mental health status, lifestyle behavior, and nutritional status in adolescents, suggesting the need for targeted prevention and intervention for physical and mental wellbeing during the pandemic.

Background: Post-hemorrhagic hydrocephalus (PHH), a common complication of severe intraventricular hemorrhage (IVH) in very low birth weight (BW) infants, is associated with significant morbidity and poor neurological outcomes. The objective of this study was to assess the current status of PHH and analyze the risk factors associated with the necessity of treatment for PHH in infants born between 22 and 28 weeks of gestation, specifically those with severe IVH (grade 3 or 4). Methods: The analysis was conducted on 1,097 infants who were born between 22–28 gestational weeks and diagnosed with severe IVH, using data from the Korean Neonatal Network. We observed that the prevalence of PHH requiring treatment was 46.3% in infants with severe IVH. Results: Higher rates of mortality, transfer during admission, cerebral palsy, and ventriculoperitoneal shunt after discharge were higher in infants with PHH than in those without PHH. PHH in severe IVH was associated with a higher rate of pulmonary hemorrhage, seizures, and IVH grade 4 in the entire cohort. In addition, it was associated with a lower rate of small for gestational age and chorioamnionitis. In the subgroup analysis, high BW, outborn status, pulmonary hemorrhage, seizure, sepsis, and IVH grade 4 were associated with a higher incidence of PHH between 22 and 25 gestational weeks (GW). In infants born between 26 and 28 GW, a higher incidence of PHH was associated with seizures and IVH grade 4. Conclusion It is necessary to maintain meticulous monitoring and neurological intervention for infants with PHH not only during admission but also after discharge. In addition, identifying the clinical factors that increase the likelihood of developing PHH from severe IVH is crucial.

Purpose: Intensive cytotoxic chemotherapy increases the risk of infection in patients with cancer by inducing bone marrow suppression and mucosal injury. Febrile neutropenia (FN) is the most important clinical adverse event in patients with cancer receiving cytotoxic chemotherapy. To prevent FN, standard precautions including hand and respiratory hygiene are generally recommended, but the exact effect of non-pharmacologic intervention has not been clearly proven in the clinical setting. We aimed to compare the incidence of FN between the pre-coronavirus disease 19 (COVID-19) era vs. the postCOVID-19 era. Methods: We retrospectively enrolled patients with breast cancer who received an adriamycin and cyclophosphamide (AC) regimen containing adjuvant chemotherapy at Jeju National University Hospital. We compared the incidence of FN between the pre- and post-COVID-19 period and analyzed characteristics of the event and other clinical risk factors. Results: In total, 149 patients were enrolled, including 94 who received AC chemotherapy in the pre-COVID-19 era and 55 who received it in the post-COVID-19 era. Sixteen patients (10.7%) experienced FN. Fourteen (14.9%) and 2 events (3.6%) occurred in pre-COVID-19 and post-COVID-19 eras, respectively. The post-COVID-19 era was the only risk factor for FN (P = 0.032). Conclusion We found an association between FN occurrence and the COVID-19 outbreak, providing indirect evidence of the importance of non-pharmacological measures to reduce FN risk in patients with breast cancer. Further research is required to confirm the standard precautions for FN prevention in patients with cancer.

Purpose: Intensive cytotoxic chemotherapy increases the risk of infection in patients with cancer by inducing bone marrow suppression and mucosal injury. Febrile neutropenia (FN) is the most important clinical adverse event in patients with cancer receiving cytotoxic chemotherapy. To prevent FN, standard precautions including hand and respiratory hygiene are generally recommended, but the exact effect of non-pharmacologic intervention has not been clearly proven in the clinical setting. We aimed to compare the incidence of FN between the pre-coronavirus disease 19 (COVID-19) era vs. the postCOVID-19 era. Methods: We retrospectively enrolled patients with breast cancer who received an adriamycin and cyclophosphamide (AC) regimen containing adjuvant chemotherapy at Jeju National University Hospital. We compared the incidence of FN between the pre- and post-COVID-19 period and analyzed characteristics of the event and other clinical risk factors. Results: In total, 149 patients were enrolled, including 94 who received AC chemotherapy in the pre-COVID-19 era and 55 who received it in the post-COVID-19 era. Sixteen patients (10.7%) experienced FN. Fourteen (14.9%) and 2 events (3.6%) occurred in pre-COVID-19 and post-COVID-19 eras, respectively. The post-COVID-19 era was the only risk factor for FN (P = 0.032). Conclusion We found an association between FN occurrence and the COVID-19 outbreak, providing indirect evidence of the importance of non-pharmacological measures to reduce FN risk in patients with breast cancer. Further research is required to confirm the standard precautions for FN prevention in patients with cancer.

Purpose: Intensive cytotoxic chemotherapy increases the risk of infection in patients with cancer by inducing bone marrow suppression and mucosal injury. Febrile neutropenia (FN) is the most important clinical adverse event in patients with cancer receiving cytotoxic chemotherapy. To prevent FN, standard precautions including hand and respiratory hygiene are generally recommended, but the exact effect of non-pharmacologic intervention has not been clearly proven in the clinical setting. We aimed to compare the incidence of FN between the pre-coronavirus disease 19 (COVID-19) era vs. the postCOVID-19 era. Methods: We retrospectively enrolled patients with breast cancer who received an adriamycin and cyclophosphamide (AC) regimen containing adjuvant chemotherapy at Jeju National University Hospital. We compared the incidence of FN between the pre- and post-COVID-19 period and analyzed characteristics of the event and other clinical risk factors. Results: In total, 149 patients were enrolled, including 94 who received AC chemotherapy in the pre-COVID-19 era and 55 who received it in the post-COVID-19 era. Sixteen patients (10.7%) experienced FN. Fourteen (14.9%) and 2 events (3.6%) occurred in pre-COVID-19 and post-COVID-19 eras, respectively. The post-COVID-19 era was the only risk factor for FN (P = 0.032). Conclusion We found an association between FN occurrence and the COVID-19 outbreak, providing indirect evidence of the importance of non-pharmacological measures to reduce FN risk in patients with breast cancer. Further research is required to confirm the standard precautions for FN prevention in patients with cancer.

Purpose: Intensive cytotoxic chemotherapy increases the risk of infection in patients with cancer by inducing bone marrow suppression and mucosal injury. Febrile neutropenia (FN) is the most important clinical adverse event in patients with cancer receiving cytotoxic chemotherapy. To prevent FN, standard precautions including hand and respiratory hygiene are generally recommended, but the exact effect of non-pharmacologic intervention has not been clearly proven in the clinical setting. We aimed to compare the incidence of FN between the pre-coronavirus disease 19 (COVID-19) era vs. the postCOVID-19 era. Methods: We retrospectively enrolled patients with breast cancer who received an adriamycin and cyclophosphamide (AC) regimen containing adjuvant chemotherapy at Jeju National University Hospital. We compared the incidence of FN between the pre- and post-COVID-19 period and analyzed characteristics of the event and other clinical risk factors. Results: In total, 149 patients were enrolled, including 94 who received AC chemotherapy in the pre-COVID-19 era and 55 who received it in the post-COVID-19 era. Sixteen patients (10.7%) experienced FN. Fourteen (14.9%) and 2 events (3.6%) occurred in pre-COVID-19 and post-COVID-19 eras, respectively. The post-COVID-19 era was the only risk factor for FN (P = 0.032). Conclusion We found an association between FN occurrence and the COVID-19 outbreak, providing indirect evidence of the importance of non-pharmacological measures to reduce FN risk in patients with breast cancer. Further research is required to confirm the standard precautions for FN prevention in patients with cancer.

X-linked hypophosphatemic rickets is caused by loss-of-function mutations in PHEX, which encodes a phosphate-regulating endopeptidase homolog. We report a 26-year-old man with X-linked hypophosphatemic rickets who showed decreased serum phosphate accompanied by bilateral genu valgum and short stature. He had received medical treatment with vitamin D (alfacalcidol) and phosphate from the age of 3 to 20 years. He underwent surgery due to valgus deformity at the age of 14 and 15. Targeted gene panel sequencing for Mendelian genes identified a nonsense mutation in PHEX (c.589C>T; p.Gln197Ter) and a mosaic pattern where only 38% of sequence reads showed the variant allele. This mutation was not found in his mother, who had a normal phenotype. This is a case of a sporadic nonsense mutation in PHEX and up to date, this is the first case of a mosaic mutation in PHEX in Korea.
Adult ; Alleles ; Codon, Nonsense ; Congenital Abnormalities ; Familial Hypophosphatemic Rickets ; Genu Valgum ; Humans ; Korea ; Mothers ; Phenotype ; Rickets, Hypophosphatemic* ; Vitamin D