ABSTRACT
Purpose@#The aim of this study was to examine whether gonadotropin-releasing hormone (GnRH) agonist treatment is effective in preserving final height in patients with central precocious puberty (CPP) or early puberty (EP). @*Methods@#The medical records of 40 patients with CPP and 206 patients with EP who completed GnRH agonist treatment following diagnosis were analyzed retrospectively. Height and height standard deviation (height SDS) scores based on bone age (BA) were measured and calculated at baseline, after treatment completion, and at final follow-up to compare changes within and between groups. Predicted adult height (PAH) was estimated by the height corresponding to height SDS for BA in girls at 18 years 11 months of age based on the growth chart. @*Results@#PAH at baseline did not differ significantly between the CPP group (153.67±4.95) and the EP group (154.77±3.72). In the CPP group, PAH significantly increased at treatment completion (156.01±4.61) and at final follow-up (158.52±6.04) compared to baseline. In the EP group, PAH significantly increased at treatment completion (157.7±3.60) and at final follow-up (159.31±4.26) compared to baseline. The increase in PAH at all timepoints compared to baseline did not significantly differ between the CPP and EP groups. @*Conclusion@#Both CPP and EP groups had significantly greater PAH after treatment, with no difference in the amount of increase between groups. These results show that GnRH agonist treatment can help increase final height even in patients diagnosed with EP after the age of 8 years.
ABSTRACT
Dry ice is a solid form of carbon dioxide and is commonly used in everyday life to keep food or medicine cold. In South Korea, there have been rare cases of carbon dioxide asphyxiation and poisoning from dry ice, though there have been no reports of its use in suicide. In the first case, a man was found lying down dead and left a large amount of dry ice in his room. In the second case, a man died by tying a belt around his neck after placing a plastic bag filled with dry ice over his head. The third death was by placing a large amount of dry ice in a large rubber basin in his room and filling it with water. Dry ice itself is mostly harmless, but if it is not handled carefully in a confined space, it can cause accidents due to accidental oxygen deprivation. Its easy availability in everyday life also means it is likely to be misused for suicidal purposes. Investigators should consider the potential for asphyxiation or poisoning incidents if they discover dry ice or its packaging at the forensic scene.
ABSTRACT
Pediatric nondysraphic intramedullary lipoma is very rare, and only limited cases have been reported. In the present case, we present two infant patients with these pathologies who were surgically treated. Previous literature on 20 patients with these diseases who had undergone surgical treatments was analyzed. Surgical treatment should be considered in most symptomatic patients, and laminoplastic laminotomy and internal debulking of the lipoma under intraoperative neurophysiological monitoring are mostly recommended.
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A rapid outbreak of monkeypox is ongoing in non-endemic countries since May 2022. We report the first case of monkeypox in the Republic of Korea. This occurred in a 34-year-old male patient who traveled to Europe in June 2022. On the day of his return to the Republic of Korea (June 21, 2022), the patient presented with a genital lesion. The results of the monkeypox real-time polymerase chain reaction tests were positive in the penile ulcer, oropharyngeal and nasopharyngeal specimens. The patient subsequently developed fever and skin rash after hospital admission. Careful history taking along physical examination should be conducted in the patients who have epidemiologic risk factors for monkeypox. Moreover, appropriate specimens should be obtained from lesions and tested for the monkeypox virus.
ABSTRACT
Idiopathic intracranial hypertension (IIH) is a syndrome defined by elevated intracranial pressure without any abnormal findings. In the present study, we report a rare case of IIH in a patient after ventriculoperitoneal shunt (VPS) due to infant hydrocephalus. A 13-year-old girl with a history of VPS due to infant hydrocephalus was admitted to emergency room with the complaint of severe headache and visual disturbance. Brain computed tomography showed normal findings. However, based on the measurement by lumbar puncture, her cerebrospinal fluid (CSF) pressure was observed to be very high. The shunt function test revealed a VPS malfunction. Thus, we conducted VPS revision in this patient. All symptoms improved immediately after the revision. Thus, it is proposed that IIH should be considered for patients with visual disturbance and severe headache after VPS due to infant hydrocephalus without ventriculomegaly.
ABSTRACT
Purpose@#This study examined the effectiveness of action observation training (AOT) and mirror therapy in improving the electroencephalograms (EEG) of stroke patients. @*Methods@#Patients were allocated randomly to three groups: an action observation training with activity (AOTA) group (n=12), a mirror therapy with activity (MTA) group (n=11), and an AOT-only group (n=12). All groups received conventional physiotherapy in five 60-minute sessions over six weeks. The AOTA, MTA, and AOT groups practiced AOTA, MTA, and AOT, respectively, in three 30-minute sessions over six weeks. The differences between the pre- and post-treatment EEGs were assessed using a paired t-test. Comparisons between the groups were performed using one-way ANOVA. @*Results@#The participants in the AOTA and MTA groups showed significant improvement in the EEG. AOTA improved the alpha waves of the prefrontal, temporal, and parietal lobes significantly (p<0.05). MTA improved the alpha waves of the temporal lobe significantly (p<0.05). AOT did not result in significant improvement @*Conclusion@#AOTA and MTA improve stroke patients’ EEGs. Mirror neuron activation combined with conventional stroke physiotherapy promotes motor recovery and functioning. The effect is enhanced when the actions are executed after observation. Further research into mirror neuron activation will be needed to develop methods to improve the EEGs of stroke patients.
ABSTRACT
Idiopathic intracranial hypertension (IIH) is a syndrome defined by elevated intracranial pressure without any abnormal findings. In the present study, we report a rare case of IIH in a patient after ventriculoperitoneal shunt (VPS) due to infant hydrocephalus. A 13-year-old girl with a history of VPS due to infant hydrocephalus was admitted to emergency room with the complaint of severe headache and visual disturbance. Brain computed tomography showed normal findings. However, based on the measurement by lumbar puncture, her cerebrospinal fluid (CSF) pressure was observed to be very high. The shunt function test revealed a VPS malfunction. Thus, we conducted VPS revision in this patient. All symptoms improved immediately after the revision. Thus, it is proposed that IIH should be considered for patients with visual disturbance and severe headache after VPS due to infant hydrocephalus without ventriculomegaly.
ABSTRACT
Purpose@#This study examined the effectiveness of action observation training (AOT) and mirror therapy in improving the electroencephalograms (EEG) of stroke patients. @*Methods@#Patients were allocated randomly to three groups: an action observation training with activity (AOTA) group (n=12), a mirror therapy with activity (MTA) group (n=11), and an AOT-only group (n=12). All groups received conventional physiotherapy in five 60-minute sessions over six weeks. The AOTA, MTA, and AOT groups practiced AOTA, MTA, and AOT, respectively, in three 30-minute sessions over six weeks. The differences between the pre- and post-treatment EEGs were assessed using a paired t-test. Comparisons between the groups were performed using one-way ANOVA. @*Results@#The participants in the AOTA and MTA groups showed significant improvement in the EEG. AOTA improved the alpha waves of the prefrontal, temporal, and parietal lobes significantly (p<0.05). MTA improved the alpha waves of the temporal lobe significantly (p<0.05). AOT did not result in significant improvement @*Conclusion@#AOTA and MTA improve stroke patients’ EEGs. Mirror neuron activation combined with conventional stroke physiotherapy promotes motor recovery and functioning. The effect is enhanced when the actions are executed after observation. Further research into mirror neuron activation will be needed to develop methods to improve the EEGs of stroke patients.
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Purpose@#Congenital pulmonary airway malformation (CPAM) is a rare developmental abnormality of the lungs. We investigated clinical characteristics of CPAM based on patient age at diagnosis. @*Methods@#In this retrospective study, we analyzed the medical records of 51 patients diagnosed with CPAM at Pusan National University Hospital between January 2000 and December 2019. @*Results@#We investigated 39 children and 12 adults. The mean age at the diagnosis of the patients was 15.9± 14.3 years. The mean ages of children and adults at the time of diagnosis of CPAM were 6.8± 5.8 years and 31.2± 10.2 years, respectively. Among the 51 patients investigated, 20 (39%) were asymptomatic and 31 (61%) showed clinical symptoms, such as dry cough, recurrent respiratory infections, and dyspnea at the time of diagnosis. Notably, clinical symptoms at diagnosis were observed in 28 children (72%) and in only 3 adults (25%) (P= 0.006), and children were more symptomatic than adults. Children with large cysts tended to be more symptomatic than those with small cysts (P< 0.001). Combined anomalies were detected in 12 patients (23%). Patients with cystic lesions in the right lower lobe of the lung showed a higher prevalence of combined anomalies (P= 0.015). Surgical resection was performed in 40 patients (78%), and all patients showed good prognosis. @*Conclusion@#This study revealed that the presence of clinical symptoms of CPAM differed between children and adults, depending on the age at diagnosis and that patients with cysts in the right lower lobe of the lungs tended to show a higher prevalence of combined anomalies.
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Bioactivity-guided fractionation by preliminary screening using interleukin-1β production in lipopolysaccharides (LPS)-induced J774A.1 cell line led to the isolation of fourteen structures including chromone, isocoumarins, flavanoids, and triterpenes from the aerial part of Agrimonia pilosa Ledeb. All structures were determined by measuring their spectroscopic data and comparing their spectroscopic data with the literatures. All the isolates were tested for their inhibitory activities against interleukin-1β production in LPSinduced J774A.1 cell. Of the tested compounds, (S)-(+)-5,7-dihydroxy-2-(1-methylpropyl)chromone (1), agrimonolide-6-O-β-D-glucopyranoside (5), agrimonolide-6-O-α-L-arabinofuranosyl-(1→6)-β-D-glucopyranoside (6), and catechin (10) were found to be active. Furthermore, compound 1 suppressed the protein expressions of NLRP3 and NLRC4 in murine macrophage.
ABSTRACT
Purpose@#To investigate the effect of lifestyle changes on patterns of carbon monoxide (CO) exposure and the association between neurologic symptoms and outcomes in Korean children with CO intoxication. @*Methods@#We reviewed the medical records of patients (< 18 years) with CO intoxication who visited the emergency department of Pusan National University Hospital between February 2012 and January 2020. We collected clinical findings, including age and sex, transfer from other hospitals, source, time and duration of exposure, manifestations with neurologic symptoms (syncope, seizure, and altered mental status), intensive care unit hospitalization, hospital length of stay, implementation of hyperbaric oxygen therapy, and findings of neuroimaging. These variables were compared between children with and without neurologic symptoms. In addition, levels of carboxyhemoglobin and lactate were compared between patients with and without specific manifestations. @*Results@#The enrolled 47 patients’ median age was 10 years (interquartile range, 4.5-14.0). The most common source of exposure was fire (46.8%), followed by camping (23.4%). The most common times of exposure were night (44.7%) and winter (44.7%). The patients with neurologic symptoms (14 [29.8%]) showed longer duration of exposure and hospital length of stay (P < 0.001 and P = 0.007, respectively). Of the 14 patients, 2 were hospitalized to the intensive care unit without an in-hospital mortality. A significant association was found between dyspnea and lactate level (P = 0.049), also between syncope or presyncope and carboxy hemoglobin level (P = 0.017). @*Conclusion@#CO intoxication in Korean children is most often caused by fire and camping, and at night and in winter. There is a correlation between neurologic symptoms and duration of exposure to CO.
ABSTRACT
Mast cells (MCs) are systemically distributed and secrete several allergic mediators such as histamine and leukotrienes to cause type I hypersensitivity. Dasatinib is a type of anti-cancer agent and it has also been reported to inhibit human basophils. However, dasatinib has not been reported for its inhibitory effects on MCs or type I hypersensitivity in mice. In this study, we examined the inhibitory effect of dasatinib on MCs and MC-mediated allergic response in vitro and in vivo. In vitro, dasatinib inhibited the degranulation of MCs by antigen stimulation in a dose-dependent manner (IC 50 , ~34 nM for RBL-2H3 cells; ~52 nM for BMMCs) without any cytotoxicity. It also suppressed the secretion of inflammatory cytokines IL-4 and TNF-α by antigen stimulation. Furthermore, dasatinib inhibited MC-mediated passive cutaneous anaphylaxis (PCA) in mice (ED 50 , ~29 mg/kg). Notably, dasatinib significantly suppressed the degranulation of MCs in the ear tissue. As the mechanism of its effect, dasatinib inhibited the activation of Syk and Syk-mediated downstream signaling proteins, LAT, PLCγ1, and three typical MAP kinases (Erk1/2, JNK, and p38), which are essential for the activation of MCs. Interestingly, in vitro tyrosine kinase assay, dasatinib directly inhibited the activities of Lyn and Fyn, the upstream tyrosine kinases of Syk in MCs. Taken together, dasatinib suppresses MCs and PCA in vitro and in vivo through the inhibition of Lyn and Fyn Src-family kinases. Therefore, we suggest the possibility of repositioning the anti-cancer drug dasatinib as a treatment for various MC-mediated type I hypersensitive diseases.
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Colorectal cancer (CRC) is one of the most malignant type of cancers and its incidence is steadily increasing, due to life style factors that include western diet. Abnormal activation of canonical Wnt/β-catenin signaling pathway plays an important role in colorectal carcinogenesis. Therefore, targeting Wnt/β-catenin signaling has been considered a crucial strategy in the discovery of small molecules for CRC. In the present study, we found that Nodosin, an ent-kaurene diterpenoid isolated from Isodon serra, effectively inhibits the proliferation of human colon cancer HCT116 cells. Mechanistically, Nodosin effectively inhibited the overactivated transcriptional activity of β-catenin/T-cell factor (TCF) determined by Wnt/β-catenin reporter gene assay in HEK293 and HCT116 cells. The expression of Wnt/β-catenin target genes such as Axin2, cyclin D1, and survivin were also suppressed by Nodosin in HCT116 cells. Further study revealed that a longer exposure of Nodosin induced the G 2/M phase cell cycle arrest and subsequently apoptosis in HCT116 cells. These findings suggest that the anti-proliferative activity of Nodosin in colorectal cancer cells might in part be associated with the regulation of Wnt/β-catenin signaling pathway.
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Patients with neurological disorders are at high risk of developing osteoporosis, as they possess multiple risk factors leading to low bone mineral density. Such factors include inactivity, decreased exposure to sunlight, poor nutrition, and the use of medication or treatment that can cause lower bone mineral density such as antiepileptic drugs, ketogenic diet, and glucocorticoids. In this article, mechanisms involved in altered bone health in children with neurological disorders and management for patients with epilepsy, cerebral palsy, and Duchenne muscular dystrophy regarding bone health are reviewed.
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Familial hypophosphatemic rickets (FHR) is a disorder characterized by phosphate wasting and hypophosphatemia due to defects in renal phosphate transport regulation. There are 4 known inherited forms of FHR that differ in their molecular causes. Very few studies have been conducted that focused on the molecular analysis of FHR in Koreans. Eighteen mutations of the PHEX gene have been identified to this date in Korea. Herein, we report the clinical case of a 24-month-old boy presenting with bowed legs and short stature. The biochemical profile showed hypophosphatemia with decreased tubular reabsorption of phosphate. Several family members were identified with short stature and genu varum. Therefore, he was diagnosed with FHR. To identify the molecular causes of FHR, we performed targeted gene panel sequencing and found a novel hemizygous missense variant, c.1949T>C (p.Leu650Pro), in the PHEX gene. This variant was also detected in the boy’s mother who exhibited genu varum and short stature.
ABSTRACT
Purpose@#Trauma is the leading cause of death and disability in children. We aimed to compare the clinical characteristics of children with trauma and disease. @*Methods@#We reviewed the medical records of children (< 19 years) who visited the emergency department of Pusan National University Hospital from 2016 through 2018. Data on the age, age group, sex, details of trauma or disease, severe trauma or disease (Korean Triage Acuity Scale 1-2), hospitalization rate (overall and intensive care unit [ICU]), hospital length of stay, in-hospital mortality, and the Injury Severity Score were compared between the children with trauma and those with disease. @*Results@#In a total of 10,205 children, 3,028 (29.7%) had trauma. The children with trauma were older than those with disease (median age, 78.5 months [interquartile range, 35.0-165.0] vs. 49.0 [16.0-120.0]; P < 0.001). Boys were more common in the former group than the latter (63.7% vs. 56.3%; P < 0.001). The most common injury mechanism was traffic accident (16.0%), followed by fall and foreign body. The overall hospitalization rate was higher in the children with disease (17.1% vs. 35.9%; P < 0.001). However, the children with trauma underwent more frequent ICU hospitalization, and showed higher in-hospital mortality rate and longer hospital length of stay than those with disease (all P < 0.001). The children with severe trauma showed higher median age, percentage of boys, in-hospital mortality, and ICU hospitalization rate, and longer hospital length of stay than those with severe disease (all P < 0.001). @*Conclusion@#Children with trauma tend to be older, and their condition may be more critical in severity than those with disease. This difference is more prominent in those with severe trauma or disease.
ABSTRACT
Nonautoimmune hyperthyroidism is a very rare cause of congenital hyperthyroidism that is usually caused by an activating mutation in the thyroid-stimulating hormone receptor (TSHR) gene. In this report, we describe a case of nonautoimmune hyperthyroidism in a patient with TSHR mutation. Our patient was the younger of a set of twins born at 36 weeks and 6 days of gestation. The patient was noted to be more irritable than the older twin at 80 days of age, and the mother was taking methimazole for Graves’ disease that had been diagnosed 12 years prior. Therefore, a thyroid function test was conducted for the patient. The results revealed subclinical hyperthyroidism, and tests of antithyroglobulin antibody, antithyroid peroxidase antibody, and anti-thyroid-stimulating hormone (TSH) receptor antibody were all negative. During follow-up, at around 4 months of age, free T4 increased to 2.89 ng/dL, and TSH was still low at 0.01 μIU/mL; therefore, 3 mg/day of methimazole was initiated. Whole-exome sequencing showed a heterozygous variant of c.1800C>T (p.Ala627Val) in the TSHR gene. Testing in the family confirmed an identical variant in the patient's mother, leading to diagnosis of familial nonautoimmune hyperthyroidism inherited in an autosomal dominant pattern. This is the second report of A627V confirmed as a germline variant.
ABSTRACT
Purpose@#Trauma is the leading cause of death and disability in children. We aimed to compare the clinical characteristics of children with trauma and disease. @*Methods@#We reviewed the medical records of children (< 19 years) who visited the emergency department of Pusan National University Hospital from 2016 through 2018. Data on the age, age group, sex, details of trauma or disease, severe trauma or disease (Korean Triage Acuity Scale 1-2), hospitalization rate (overall and intensive care unit [ICU]), hospital length of stay, in-hospital mortality, and the Injury Severity Score were compared between the children with trauma and those with disease. @*Results@#In a total of 10,205 children, 3,028 (29.7%) had trauma. The children with trauma were older than those with disease (median age, 78.5 months [interquartile range, 35.0-165.0] vs. 49.0 [16.0-120.0]; P < 0.001). Boys were more common in the former group than the latter (63.7% vs. 56.3%; P < 0.001). The most common injury mechanism was traffic accident (16.0%), followed by fall and foreign body. The overall hospitalization rate was higher in the children with disease (17.1% vs. 35.9%; P < 0.001). However, the children with trauma underwent more frequent ICU hospitalization, and showed higher in-hospital mortality rate and longer hospital length of stay than those with disease (all P < 0.001). The children with severe trauma showed higher median age, percentage of boys, in-hospital mortality, and ICU hospitalization rate, and longer hospital length of stay than those with severe disease (all P < 0.001). @*Conclusion@#Children with trauma tend to be older, and their condition may be more critical in severity than those with disease. This difference is more prominent in those with severe trauma or disease.
ABSTRACT
Nonautoimmune hyperthyroidism is a very rare cause of congenital hyperthyroidism that is usually caused by an activating mutation in the thyroid-stimulating hormone receptor (TSHR) gene. In this report, we describe a case of nonautoimmune hyperthyroidism in a patient with TSHR mutation. Our patient was the younger of a set of twins born at 36 weeks and 6 days of gestation. The patient was noted to be more irritable than the older twin at 80 days of age, and the mother was taking methimazole for Graves’ disease that had been diagnosed 12 years prior. Therefore, a thyroid function test was conducted for the patient. The results revealed subclinical hyperthyroidism, and tests of antithyroglobulin antibody, antithyroid peroxidase antibody, and anti-thyroid-stimulating hormone (TSH) receptor antibody were all negative. During follow-up, at around 4 months of age, free T4 increased to 2.89 ng/dL, and TSH was still low at 0.01 μIU/mL; therefore, 3 mg/day of methimazole was initiated. Whole-exome sequencing showed a heterozygous variant of c.1800C>T (p.Ala627Val) in the TSHR gene. Testing in the family confirmed an identical variant in the patient's mother, leading to diagnosis of familial nonautoimmune hyperthyroidism inherited in an autosomal dominant pattern. This is the second report of A627V confirmed as a germline variant.
ABSTRACT
Purpose@#The purpose of this study was to identify the factors relating to commitment to a plan for exercise in the breast cancer patient following a mastectomy and to examine the relationship between these factors. @*Methods@#This study was a correlational research and the participants were 152 patients with breast cancer. Data were collected using a structured questionnaire from June to October, 2015. @*Results@#The final regression model showed that income, experience of exercise and current exercise were significant predictors related to commitment to a plan for exercise in patients with breast cancer and explained for 65.9% of the variance in commitment to a plan for exercise. @*Conclusion@#The findings indicate that patients in breast cancer-oriented intervention programs have an enhancing experience of exercise. Current exercise should be provided for patients with breast cancer in order to promote health and quality of life.