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.

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

PURPOSE: To analyze retrospectively the outcome of postoperative radiation therapy with or without concurrent chemotherapy for curatively resected stage II pancreatic cancer with T3 or N1 disease. MATERIALS AND METHODS: Between January 1996 and December 2005, twenty-eight patients completed adjuvant radiation therapy at Ajou University Hospital. The patients had either pathologic T3 stage or N1 stage. The radiation target volume encompassed the initial tumor bed identified preoperatively, resection margin area and celiac nodal area. In the case of N1 patients, the radiation field extended to the lower margin of the L3 vertebra for covering both para-aortic lymph nodes bearing area. The median total radiation dose was 50 Gy. Ten patients received concurrent chemotherapy. RESULTS: Thirteen patients (46%) showed loco-regional recurrences. The celiac axis nodal area was the most frequent site (4 patients). Five patients showed both loco-regional recurrence and a distant metastasis. Patients with positive lymph nodes had a relatively high probability of a distant metastasis (57.1%). Patients that had a positive resection margin showed a relatively high local failure rate (57.1%). The median disease-free survival period of all patients was 6 months and the 1- and 2-year disease free survival rates were 27.4% and 8.2%, respectively. The median overall survival period was 9 months. The 2- and 3-year overall survival rates were 31.6% and 15.8%, respectively. CONCLUSION: The pancreatic cancer patients with stage II had a high risk of local failure and a high risk of a distant metastasis. We suggest the concurrent use of an effective radiation-sensitizing chemotherapeutic drug and adjuvant chemotherapy after postoperative radiation therapy for the treatment of patients with stage II pancreatic cancer.
Axis, Cervical Vertebra ; Chemotherapy, Adjuvant ; Disease-Free Survival ; Drug Therapy ; Humans ; Lymph Nodes ; Neoplasm Metastasis ; Pancreatic Neoplasms* ; Recurrence ; Retrospective Studies ; Spine ; Survival Rate

BACKGROUND: To investigate the incidence of surgical intervention in very low birth weight (VLBW) infants and the impact of surgery on neurodevelopmental outcomes at corrected ages (CAs) of 18–24 months, using data from the Korean Neonatal Network (KNN). METHODS: Data from 7,885 VLBW infants who were born and registered with the KNN between 2013 to 2016 were analyzed in this study. The incidences of various surgical interventions and related morbidities were analyzed. Long-term neurodevelopmental outcomes at CAs of 18–24 months were compared between infants (born during 2013 to 2015, n = 3,777) with and without surgery. RESULTS: A total of 1,509 out of 7,885 (19.1%) infants received surgical interventions during neonatal intensive care unit (NICU) hospitalization. Surgical ligation of patent ductus arteriosus (n = 840) was most frequently performed, followed by laser therapy for retinopathy of prematurity and laparotomy due to intestinal perforation. Infants who underwent surgery had higher mortality rates and greater neurodevelopmental impairment than infants who did not undergo surgery (P value < 0.01, both). On multivariate analysis, single or multiple surgeries increased the risk of neurodevelopmental impairment compared to no surgery with adjusted odds ratios (ORs) of 1.6 with 95% confidence interval (CI) of 1.1–2.6 and 2.3 with 95% CI of 1.1–4.9. CONCLUSION: Approximately one fifth of VLBW infants underwent one or more surgical interventions during NICU hospitalization. The impact of surgical intervention on long-term neurodevelopmental outcomes was sustained over a follow-up of CA 18–24 months. Infants with multiple surgeries had an increased risk of neurodevelopmental impairment compared to infants with single surgeries or no surgeries after adjustment for possible confounders.
Cohort Studies ; Ductus Arteriosus, Patent ; Follow-Up Studies ; Hospitalization ; Humans ; Incidence ; Infant ; Infant, Newborn ; Infant, Very Low Birth Weight ; Intensive Care, Neonatal ; Intestinal Perforation ; Korea ; Laparotomy ; Laser Therapy ; Ligation ; Mortality ; Multivariate Analysis ; Odds Ratio ; Retinopathy of Prematurity

PURPOSE: Despite the increasing use of continuous renal replacement therapy (CRRT) in the neonatal intensive care unit (NICU), few studies have investigated its use in preterm infants. This study evaluated the prognosis of preterm infants after CRRT and identified risk factors of mortality after CRRT. MATERIALS AND METHODS: A retrospective review was performed in 33 preterm infants who underwent CRRT at the NICU of Samsung Medical Center between 2008 and 2017. Data of the demographic characteristics, predisposing morbidity, cardiopulmonary function, and CRRT were collected and compared between surviving and non-surviving preterm infants treated with CRRT. Univariable and multivariable analyses were performed to identify factors affecting mortality. RESULTS: Compared with the survivors, the non-survivors showed younger gestational age (29.3 vs. 33.6 weeks), lower birth weight (1359 vs. 2174 g), and lower Apgar scores at 1 minute (4.4 vs. 6.6) and 5 minutes (6.5 vs. 8.6). At the initiation of CRRT, the non-survivors showed a higher incidence of inotropic use (93% vs. 40%, p=0.017) and fluid overload (16.8% vs. 4.0%, p=0.031). Multivariable analysis revealed that fluid overload >10% at CRRT initiation was the primary determinant of mortality after CRRT in premature infants, with an adjusted odds ratio of 14.6 and a 95% confidence interval of 1.10–211.29. CONCLUSION: Our data suggest that the degree of immaturity, cardiopulmonary instability, and fluid overload affect the prognosis of preterm infants after CRRT. Preventing fluid overload and earlier initiation of CRRT may improve treatment outcomes.
Birth Weight ; Gestational Age ; Humans ; Incidence ; Infant, Newborn ; Infant, Premature ; Intensive Care, Neonatal ; Mortality ; Odds Ratio ; Prognosis ; Renal Replacement Therapy ; Retrospective Studies ; Risk Factors ; Survivors

Purpose: To compare respiratory outcomes between less invasive surfactant admi nistration (LISA) and the intubation-surfactant-extubation (INSURE) technique in premature infants with respiratory distress syndrome (RDS). Methods: We performed a retrospective medical chart review for 75 premature in fants who were born at a gestational age (GA) of ≤34 weeks (between January 2017 and December 2019) and developed RDS after birth. Data on the demographic and outcome variables, including respiratory outcomes, were collected and compared between the infants who received LISA and those who received INSURE as a rescue therapy for RDS. Results: No signifcant differences in GA, birth weight, and other demographic characteristics were found between the LISA and INSURE groups (GA: 28.7 weeks vs.28.8 weeks, P=0.449; birth weight: 1,236 g vs. 1,124 g, P=0.714). At the delivery room, although the infants showed no significant difference in positive pressure ventilation rate after birth, the LISA group showed a higher rate of continuous positive airway pressure application than the INSURE group. The infants in the LISA group presented a higher risk of requiring multiple doses of surfactant for RDS than the infants in the INSURE group (57% vs. 17.5%, P=0.001). However, the duration of invasive and/ or noninvasive respiratory support and incidence of bronchopulmonary dysplasia showed no signifciant difference between the two groups. Conclusion In the present study, no significant differences in the incidence of inhospital respiratory outcomes such as bronchopulmonary dysplasia were found between the LISA and INSURE groups. These results suggest that LISA can be an alternative therapeutic option for treating RDS to avoid intubation and mechanica ventilation in premature infants.