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1.
Annals of Pediatric Endocrinology & Metabolism ; : 49-53, 2023.
Article in English | WPRIM | ID: wpr-966263

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.

2.
Neonatal Medicine ; : 76-83, 2022.
Article in English | WPRIM | ID: wpr-938833

ABSTRACT

Purpose@#This study aimed to identify prognostic factors based on treatment outcomes for congenital diaphragmatic hernia (CDH) at a single-center and to identify factors that may improve these outcomes. @*Methods@#Thirty-five neonates diagnosed with CDH between January 2011 and December 2021 were retrospectively analyzed. Pre- and postnatal factors were correlated and analyzed with postnatal clinical outcomes to determine the prognostic factors. Highest oxygenation index (OI) within 24 hours of birth was also calculated. Treatment strategy and outcome analysis of published literatures were also performed. @*Results@#Overall survival rate of this cohort was 60%. Four patients were unable to undergo anesthesia and/or surgery. Three patients who commenced extracorporeal membrane oxygenation (ECMO) post-surgery were non-survivors. Compared to the survivor group, the non-survivor group had a significantly higher occurrence of pneumothorax on the first day, need for high-frequency ventilator and inhaled nitric oxide use, and high OI within the first 24 hours. The non-survivor group showed an early trend towards the surgery timing and a greater number of patch closures. Area under the receiver operating characteristic curve was 0.878 with a sensitivity of 76.2% and specificity of 92.9% at an OI cutoff value of 7.75. @*Conclusion@#OI within 24 hours is a valuable predictor of survival. It is expected that the application of ECMO based on OI monitoring may help improve the opportunity for surgical repair, as well as the prognosis of CDH patients.

3.
Allergy, Asthma & Respiratory Disease ; : 131-138, 2022.
Article in English | WPRIM | ID: wpr-937081

ABSTRACT

Hereditary angioedema (HAE) is a rare inherited condition marked by recurrent skin and submucosal edema. HAE is caused by a C1 inhibitor deficiency or decreased C1 inhibitor function. The initial attack may occur during childhood or pregnancy, with symptoms ranging from classic angioedema to nonspecific stomach cramps. In this review, we discuss strategies for children and pregnant women to manage HAE attacks effectively and safely in light of the recent increase in HAE diagnosis. To begin, aggressive work-up is necessary to confirm HAE–1/2 and to determine the most effective countermeasures. Secondly, in the event of an acute attack, plasma-derived C1-inhibitor is the first line of defense for children and pregnant women. Icatibant is also appropriate for use, except in pregnant women. Fresh frozen plasma (FFP) may be suggested as an alternative. Thirdly, proactive measures to prevent HAE attacks should be considered whenever a procedure is performed that may result in an exacerbation. Finally, FFP, attenuated androgen and antifibrinolytic agents are recommended for long-term prophylaxis in South Korea where the C1-inhibitor is scarce. However, when making a decision, it is necessary to consider both the efficacy and the risk of adverse effects. For proper management, written action plans and first-aid kits are required. The action plans should be customized to the patients‘ unique circumstances.

4.
Nutrition Research and Practice ; : s57-s69, 2022.
Article in English | WPRIM | ID: wpr-926842

ABSTRACT

BACKGROUND/OBJECTIVES@#Vitamin D is produced in the skin during sun exposure and is also ingested from foods. The role of vitamin D needs to be considered in the prevention and management of various diseases. Moreover, since the majority of Koreans spend their days indoors, becoming susceptible to the risk of vitamin D deficiency. The current study aims to prepare a basis for determining dietary reference intake of vitamin D in Korea, by reviewing the evidence against various diseases and risks.MATERIALS/METHODS: Literature published in Korea and other countries between 2014 and 2018 was prioritized based on their study design and other criteria, and evaluated using the RoB 2.0 assessment form and United States Department of Agriculture Nutrition Evidence Library Conclusion Statement Evaluation Criteria. @*RESULTS@#Of the 1,709 studies, 128 studies were included in the final systematic analysis after screening. To set the dietary reference intakes of vitamin D based on the selected articles, blood 25(OH)D levels and indicators of bone health were used collectively. Blood vitamin D levels and ultraviolet (UV) exposure time derived from the Korean National Health and Nutrition Examination Survey were analyzed to establish the dietary reference intakes of vitamin D for each stage of the life cycle. The adequate intake levels of vitamin D, according to age and gender, were determined to be in the range of 5–15 μg/day, and the tolerable upper intake level was established at 25–100 μg/day. @*CONCLUSIONS@#The most important variable for vitamin D nutrition is lifestyle. A balanced diet comprising foods with high contents of vitamin D is important, as is vitamin D synthesis after UV exposure. The adequate intake level of vitamin D mentioned in the 2015 Dietary Reference Intakes for Korean (KDRI) remained unchanged in the 2020 KDRI for the management of vitamin D nutrition in Koreans.

5.
Neonatal Medicine ; : 10-17, 2022.
Article in English | WPRIM | ID: wpr-926816

ABSTRACT

Purpose@#Since premature infants are sensitive to the changes in blood glucose levels and body temperature, maintaining these parameters is important to avoid the risk of infections. The authors implemented the Golden Hour protocol (GHP) that aims to close the final incubator within one hour of birth by implementing early treatment steps for premature infants after birth, such as maintaining body temperature, securing airway, and rapidly administering glucose fluid and prophylactic antibiotics by securing breathing and rapid blood vessels. This study investigated the effect of GHP application on the short- and long-term clinical outcomes. @*Methods@#We retrospectively analyzed the medical records between 2017 and 2018 before GHP application and between 2019 and 2020 after GHP application in preterm infants aged 24 weeks or older and those aged less than 33 weeks who were admitted to the neonatal intensive care unit. @*Results@#Overall, 117 GHP patients and 81 patients without GHP were compared and analyzed. Peripheral vascularization time and prophylactic antibiotic administration time were shortened in the GHP-treated group (P=0.007 and P=0.008). In the short-term results, the GHP-treated group showed reduced hypothermia upon arrival at the neonatal intensive care unit (P=0.002), and the blood glucose level at 1 hour of hospitalization was higher (P=0.012). Furthermore, the incidence of neonatal necrotizing enteritis decreased (P=0.043). As a long-term result, the incidence of BPD was reduced (P=0.004). @*Conclusion@#We confirmed that applying GHP improved short- and long-term clinical outcomes in premature infants aged <33 weeks age of gestation, and we expect to improve the treatment quality by actively using it for postnatal treatment.

6.
Neonatal Medicine ; : 36-45, 2022.
Article in English | WPRIM | ID: wpr-926813

ABSTRACT

Purpose@#We used the Bayley Scales of Infant and Toddler Development (BSID)-III to analyze the incidence and risk factors of developmental delay in very-low-birth-weight infants without severe brain lesions. We further examined the correlation between the cumulative dexamethasone dose and developmental assessment results. @*Methods@#We retrospectively analyzed data of preterm infants (birth weight <1,500 g) admitted to our neonatal intensive care unit between January 2014 to December 2020. The BSID-III scores obtained between the corrected ages of 12 and 24 months and after 24 months were analyzed. Developmental delay was defined as a composite score of <85 for the cognition, language, and motor domains. Univariate and multivariate analyses of developmental delay risk factors and developmental changes from the first to second BSID-III were performed. Correlations between the accumulated dexamethasone dose used for bronchopulmonary dysplasia (BPD) and the first and second test scores were analyzed. @*Results@#Seventy-one and thirty-six infants completed the first and second tests, respectively. In both tests, developmental delay was most commonly observed in the language domain (26.8%, 47.2%). In multivariate analysis, mild BPD was identified as a developmental delay risk factor (P<0.05), whereas prenatal steroid use reduced the developmental delay risk (P<0.05). All domain scores were lower in the second test than in the first test. The cognition and language domain scores in the second test decreased with increasing cumulative dexamethasone doses. @*Conclusion@#Very-low-birth-weight infants typically experience language delay, which can persist as they age.

7.
Journal of Korean Medical Science ; : e103-2022.
Article in English | WPRIM | ID: wpr-925938

ABSTRACT

Background@#The coronavirus disease pandemic is predicted to have adverse health effects on children and adolescents who are overweight or obese due to restricted school activity and stay-at-home orders. The purpose of this observational study was to determine the factors associated with weight gain in children and adolescents with overweight and obesity during coronavirus disease 2019 (COVID-19) lockdown. @*Methods@#Ninety-seven participants (sex- and age-specific body mass index (BMI) ≥ 85th percentile) were included. A baseline examination was conducted pre-COVID-19 (August 2019 to January 2020), and re-examination was performed post-lockdown (June to September 2020) and the results were compared. Correlation and regression analyses were conducted to investigate the association among changes in cardiometabolic markers and lifestyle behaviors with changes in BMI z-score. @*Results@#During the COVID-19 pandemic, an increase in BMI z-score (2.56 [2.01–2.94] to 2.62 [2.03–3.18]) was noticed in children and adolescents with obesity. Changes in cardiometabolic markers including liver enzymes, triglycerides (r = 0.398), leptin (r = 0.578), and adiponectin (r = −0.326), as well as muscular strength (r = −0.212), were correlated with the increase in BMI z-score. According to a multivariate regression analysis, changes in sedentary time (B = 0.016; 95% confidence interval [CI], 0.001–0.032) and fast-food consumption (B = 0.067; 95% CI, 0.013–0.122) were the lifestyle variables associated with BMI z-score increase. @*Conclusion@#Changes in lifestyle behaviors including fast-food consumption and sedentary time during the COVID-19 pandemic may be associated with weight gain. In order to prevent health-related risks in children and adolescents with obesity during the pandemic, it is important to maintain the level of physical activity and healthy dietary habits.

8.
Allergy, Asthma & Respiratory Disease ; : 80-88, 2022.
Article in English | WPRIM | ID: wpr-925375

ABSTRACT

Hereditary angioedema (HAE) is a rare disease, but it severely interrupts daily life activities and can sometimes be life-threatening. Therefore, early diagnosis and prompt treatment of HAE attacks are critical. Physicians should be aware of how to diagnose and manage HAE to prepare not to miss a diagnosis when treating HAE patients. Physicians must also carry out tests to confirm the diagnosis of HAEs caused by C1 inhibitor deficiency (type 1) or C1 inhibitor dysfunction (type 2) in patients with recurrent angioedema. In addition, recent studies revealed another type of HAE which is not related to C1 inhibitor (normal C1 inhibitor HAE). Once HAE is confirmed, patients and their caregivers should be given with short-term and long-term treatment plans to relieve or prevent HAE attacks. HAE requires life-long measures, including psychological support for patients and self-management education.

9.
Journal of the Korean Society of Maternal and Child Health ; : 204-210, 2021.
Article in Korean | WPRIM | ID: wpr-901254

ABSTRACT

Purpose@#Syphilis infections are becoming more prevalent in the Republic of Korea, and inadequately treated syphilis can lead to congenital syphilis (CS) in newborns. This study aimed to analyze the clinical manifestations of syphilis in mothers and newborns and to make suggestions to improve disease prognosis. @*Methods@#This single-center study was performed between August 2009 and August 2019 and included 29 newborns with CS. We retrospectively evaluated the clinical features, rapid plasma reagin (RPR) card test, fluorescent treponemal antibody absorption test (FTA-ABS), morbidity, and treatment regimen of all the syphilis-affected mothers and their newborns. @*Results@#At the time of delivery, mean maternal age was 29.0±6.1 years old, and newborn gestational age was 38.0 weeks. In cases when syphilis was confirmed during the second and third trimesters of pregnancy, the newborn with CS had morbidity (p=0.004). The mean RPR titer was related to morbidity (p= 0.036). Positive results of FTA-ABS IgM (p<0.001) and pleocytosis in the cerebrospinal fluid (CSF) (p= 0.020) also increase morbidity. The most common symptoms were desquamation and skin rash, followed by hepatomegaly, neurodevelopmental disability, and bone abnormalities. The highest number of CS cases per 1,000 live births in this hospital was in 2014. @*Conclusion@#CS is a preventable and treatable disease if physicians detect symptoms and provide appropriate treatment through RPR examinations during every trimester. General practitioners should be widely trained on various aspects including early detection, formal treatment, and regular follow-up. Additionally, medical services should be provided for the entire childbearing population regardless of the socioeconomic status.

10.
Journal of the Korean Society of Maternal and Child Health ; : 204-210, 2021.
Article in Korean | WPRIM | ID: wpr-893550

ABSTRACT

Purpose@#Syphilis infections are becoming more prevalent in the Republic of Korea, and inadequately treated syphilis can lead to congenital syphilis (CS) in newborns. This study aimed to analyze the clinical manifestations of syphilis in mothers and newborns and to make suggestions to improve disease prognosis. @*Methods@#This single-center study was performed between August 2009 and August 2019 and included 29 newborns with CS. We retrospectively evaluated the clinical features, rapid plasma reagin (RPR) card test, fluorescent treponemal antibody absorption test (FTA-ABS), morbidity, and treatment regimen of all the syphilis-affected mothers and their newborns. @*Results@#At the time of delivery, mean maternal age was 29.0±6.1 years old, and newborn gestational age was 38.0 weeks. In cases when syphilis was confirmed during the second and third trimesters of pregnancy, the newborn with CS had morbidity (p=0.004). The mean RPR titer was related to morbidity (p= 0.036). Positive results of FTA-ABS IgM (p<0.001) and pleocytosis in the cerebrospinal fluid (CSF) (p= 0.020) also increase morbidity. The most common symptoms were desquamation and skin rash, followed by hepatomegaly, neurodevelopmental disability, and bone abnormalities. The highest number of CS cases per 1,000 live births in this hospital was in 2014. @*Conclusion@#CS is a preventable and treatable disease if physicians detect symptoms and provide appropriate treatment through RPR examinations during every trimester. General practitioners should be widely trained on various aspects including early detection, formal treatment, and regular follow-up. Additionally, medical services should be provided for the entire childbearing population regardless of the socioeconomic status.

11.
Yonsei Medical Journal ; : 86-90, 2021.
Article in English | WPRIM | ID: wpr-875599

ABSTRACT

Precise allergy diagnosis and effective allergen specific immunotherapy are largely dependent on the quality of allergen extract. A new extract of Dermatophagoides farinae was commercially developed by Prolagen. The allergenic properties of the new extract were compared with those of other commercial products. The allergenic properties of the new extract were compared according to protein concentration, protein profiles, major allergen (Der f 1) contents, and allergenic potency to those for three commercially available extracts imported in Korea (Jubilant HollisterStier Allergy, Lofarma S.p.A., and Stallergenes Greer). Protein concentrations varied up to 2.62-fold (0.404 to 1.057 mg/mL), and Der f 1 contents varied up to 11.3-fold (3.597 to 40.688 μg/mL). Protein profiles of the extracts showed no major discrepancies, although there were some differences in SDS-PAGE band intensities, reflecting protein concentrations. Allergen potency ranged from 37038 to 60491 PAU/mL. The Prolagen product was highest in terms of protein concentration and allergen potency. The Lofarma product displayed Der f 1 content similar to that in Prolagen (19.4 μg/mg vs. 19.3 μg/mg). Endotoxin levels varied 8.9-fold (1020 to 8985 EU/mL). The newly developed house dust mite extract showed equal or better allergenic properties than available commercial extracts. This new product may be useful for better diagnostics and allergen-specific immunotherapeutics.

12.
Nutrition Research and Practice ; : 262-275, 2020.
Article | WPRIM | ID: wpr-835092

ABSTRACT

BACKGROUND/OBJECTIVES@#Evidence-based customized nutritional interventions are required for effective treatment of moderate to severe obese children and adolescents. @*SUBJECTS/METHODS@#Sixty six (64.1% of 103) of the eligible participants who joined the usual care or physical activity group in the clinic were involved in 16-week intervention. Customized nutritional intervention was implemented for each participant based on a nutrition care process (NCP) model. Sociodemographic assessment, anthropometrics data, health- and dietary-related behaviors, and dietary intake of the study subjects were assessed at baseline and follow-up. All participants engaged in 30-minute nutritional sessions on a monthly basis. @*RESULTS@#After 16 weeks, there were significant improvements in body composition [BMI (−0.8 ± 0.9, P < 0.05), BMI z-score (−0.3 ± 0.2, P < 0.001), body fat (kg) (−1.3 ± 2.1, P < 0.05), and body fat (%)(−1.5 ± 1.9, P < 0.05)] as well as macronutrient intake [total energy intake (kcal) (−563.7 ± 656.8, P < 0.05), energy (%) (−26.5 ± 30.0, P < 0.05) and fat (g) (−28.3 ± 40.6, P < 0.05)] in the adherent group than the non-adherent group. The SOC was higher in both groups after the intervention (P < 0.001). @*CONCLUSIONS@#Our results highlight the positive effects of an evidence-based approach as a multidisciplinary intervention for people-centered nutritional care and weight management.

13.
Korean Journal of Family Medicine ; : 111-118, 2020.
Article | WPRIM | ID: wpr-833916

ABSTRACT

Background@#Malnutrition is a well-known risk factor of falls, although studies examining the association between nutritional status and falls are rare. We aimed to investigate the association between nutritional status and falls according to gender among Korean older adults. @*Methods@#The study included 10,675 participants (4,605 men and 6,070 women) aged 65 years and older and used data from the 2011 Survey of Living Conditions and Welfare Needs of Korean Older Persons. Nutritional status of the participants was assessed using the Nutritional Screening Initiative checklist, and the participants were categorized into the following groups: “good,” “moderate nutritional risk,” and “high nutritional risk.” Odds ratios (OR) of fall risk in the above groups based on gender were evaluated using multivariate logistic regression analyses. @*Results@#Fallers in both genders showed significant association with older age, lower household income, inadequate exercise, and poor nutritional status compared with non-fallers. Considering the good nutritional status group as the reference group, the high nutritional risk group showed a higher risk of falls in men (OR, 1.59; 95% confidence interval [CI], 1.26–1.99); both moderate and high nutritional risk groups showed a higher risk of falls after adjusting for confounding factors in women (OR, 1.39; 95% CI, 1.19–1.62 and OR, 1.90; 95% CI, 1.61–2.24, respectively). @*Conclusion@#The risk of falls was associated with poor nutritional status, and statistical significance of the association between nutritional status and falls was stronger in women than in men.

14.
Yonsei Medical Journal ; : 524-532, 2020.
Article | WPRIM | ID: wpr-833357

ABSTRACT

Purpose@#Specific IgG4 (sIgG4) increases with allergen specific immunotherapy and may reflect a state of immune tolerance in food allergy. While ImmunoCAP® has been widely used to measure sIgG4 to a single allergen, PROTIATM Specific IgG4® has been designed as a multiplex assay for measuring sIgG4. This study sought to validate this assay in comparison to ImmunoCAP®. @*Materials and Methods@#Measurements of sIgG4 were compared between PROTIATM Specific IgG4® and ImmunoCAP® using sera from 519 allergy patients (asthma: 114, allergic rhinitis: 318, food allergy: 146) with 731 paired tests. sIgG4 was measured against nine inhalant allergens (Dermatophagoides pteronyssinus, Dermatophagoides farinae, cat dander, dog dander, birch pollen, oak pollen, ragweed pollen, mugwort pollen, and Alternaria alternata spores) and nine food allergens (egg white, casein, wheat, peanut, walnut, crab, shrimp, apple, and peach). @*Results@#PROTIATM Specific IgG4® showed 95.6% agreement rate with ImmunoCAP® in the positivity comparison. For sIgG4 positivity to each individual allergen, an agreement rate of more than 84.8% was observed. In Cohen’s kappa analysis, these assays displayed substantial correlations [Cohen’s kappa coefficient (κ) ≥0.699], except for shrimp (κ=0.448). Furthermore, both assays displayed strong correlations in quantitative comparisons [correlation coefficients value (ρ) ≥0.8014], except for apple (ρ=0.6571, p=0.175). Serial dilution tests also showed consistency between the assays. @*Conclusion@#PROTIATM Specific IgG4® showed high consistency with ImmunoCAP® in measuring sIgG4. This assay is applicable to various clinical fields, including allergen immunotherapy and food allergy.

15.
Yonsei Medical Journal ; : 689-697, 2020.
Article | WPRIM | ID: wpr-833323

ABSTRACT

Purpose@#Exposure to particulate matter (PM) is a well-known risk factor in the triggering and exacerbation of allergic airway disease. Indoor environments, where people spend most of their time, are of utmost importance. To assess the effects of air purifiers [equipped with high-efficiency particulate air (HEPA) filters] on allergic rhinitis (AR) in adult patients, we performed a multicenter, randomized, double-blind, and placebo-controlled study. @*Materials and Methods@#Patients with house dust mite (HDM)-induced AR were randomly assigned to either active or mockup (placebo) air-purification groups. Two air purifiers (placed in living room and bedroom) were operated for 6 weeks in each home environment. The primary study endpoint was to achieve improvement in AR symptoms and medication scores. Secondary endpoints were to achieve improvement in the quality of life (QoL) and visual analog scale (VAS) scores, as well as in the indoor (bedroom and living room) concentrations of PM2.5 and PM10. @*Results@#After 6 weeks of air purifier use, medication scores improved significantly in the active (vs. placebo) group, although subjective measures (symptoms, VAS, and QoL scores) did not differ. Bedroom PM2.5 concentrations initially exceeded living room or outdoor levels, but declined (by up to 51.8%) following active purifier operation. Concentrations of PM2.5 in living room and PM10 in bedroom and living room were also significantly reduced through active purification. @*Conclusion@#The use of air purifiers with HEPA filters significantly reduced medication requirements for patients with HDM-induced AR and significantly lowered indoor PM2.5 concentrations, regardless of room placement. Active intervention to reduce household air pollutants may help improve allergic airway disease (clinicaltrials.gov NCT03313453).

16.
The Korean Journal of Internal Medicine ; : 222-230, 2020.
Article | WPRIM | ID: wpr-831763

ABSTRACT

Background/Aims@#Accurate diagnosis and the effects of allergen-specific immunotherapy for pollinosis are greatly dependent on the potency and stability of the extract. This study aimed to examine factors, such as temperature and storage buffer composition, that affect the stability of allergen extracts from pollens of allergenic importance in Korea. @*Methods@#We prepared four pollen allergen extracts from ragweed, mugwort, Japanese hop, and sawtooth oak, which are the most important causes of seasonal rhinitis in Korea. Changes of protein and major allergen concentration were measured over 1 year by Bradford assay, two-site enzyme-linked immunosorbent assay, and sodium dodecyl sulfate-polyacrylamide gel electrophoresis after reconstitution of the lyophilized allergen extract in various buffers and stored at room temperature (RT, 18°C to 26°C) or refrigerated (4°C). @*Results@#More than 90% of the original protein concentration in all four extracts examined was detected over 1 year when 50% glycerol was added and refrigerated, whereas 57.9% to 94.5% remained in the extracts at RT. The addition of 50% glycerol to the storage buffer was found to prevent protein degradation at RT. Amb a 1, a major allergen of ragweed, was almost completely degraded in 9 weeks at RT when reconstituted in a buffer without 50% glycerol. However, 55.6% to 92.8% of Amb a 1 content was detected after 1 year of incubation at 4°C in all buffer conditions except 0.3% phenol. @*Conclusions@#Addition of 50% glycerol as well as refrigeration was found to be important in increasing the shelf-life of allergen extracts from pollens of allergenic importance.

17.
Annals of Pediatric Endocrinology & Metabolism ; : 63-67, 2020.
Article | WPRIM | ID: wpr-830456

ABSTRACT

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.

18.
Korean Journal of Family Practice ; (6): 332-337, 2020.
Article | WPRIM | ID: wpr-830181

ABSTRACT

Background@#Recent studies suggest that acanthosis nigricans (AN) is associated with insulin resistance in obese children. However, very few studies have assessed insulin resistance and obesity according to the degree of AN. Therefore, this study aimed to investigate the correlation between the degree of obesity and insulin resistance according to the severity of AN. @*Methods@#A total of 141 participants (83 boys and 58 girls) aged 6−17 years were recruited for the Intervention for Childhood and Adolescents obesity via Activity and Nutrition study between 2016 and 2017. The participants were categorized into four groups according to the severity of AN: grade 0 (n=69), grade 1 (n=19), grade 2–3 (n=35), and grade 4 (n=18). All participants underwent physical examination and blood tests. We compared the mean homeostatic model assessment (HOMA-IR) and body mass index Z score (BMI Z-score) in each group using ANCOVA and linear regression model. @*Results@#The HOMA-IR, which represents insulin resistance, increased with increasing AN severity (grade 0 group: 3.25±0.070; grade 1 group: 3.97±0.103; grade 2–3 group: 4.76±0.079; AN grade 4: 6.40±0.107; P for trend<0.001). Similarly, the BMI Z-score, which represents the degree of obesity, increased with increasing AN severity (grade 0 group: 2.29±0.052; grade 1 group: 2.42±0.080; grade 2–3 group: 2.44±0.062, grade 4: 2.67±0.089; P for trend<0.001). @*Conclusion@#Insulin resistance and the degree of obesity increase with the severity of AN in Korean obese children.

19.
Allergy, Asthma & Immunology Research ; : 496-506, 2020.
Article in English | WPRIM | ID: wpr-811063

ABSTRACT

PURPOSE: Anaphylaxis is an immediate allergic reaction characterized by potentially life-threatening, severe, systemic manifestations. While studies have evaluated links between serious illness and posttraumatic stress disorder (PTSD), few have investigated PTSD after anaphylaxis in adults. We sought to investigate the psychosocial burden of recent anaphylaxis in Korean adults.METHODS: A total of 203 (mean age of 44 years, 120 females) patients with anaphylaxis were recruited from 15 university hospitals in Korea. Questionnaires, including the Impact of Event Scale-Revised-Korean version (IES-R-K), the Korean version of the Beck Anxiety Inventory (K-BAI), and the Korean version of the Beck Depression Inventory (K-BDI), were administered. Demographic characteristics, causes and clinical features of anaphylaxis, and serum inflammatory markers, including tryptase, platelet-activating factor, interleukin-6, tumor necrosis factor-α, and C-reactive protein, were evaluated.RESULTS: PTSD (IES-R-K ≥ 25) was noted in 84 (41.4%) patients with anaphylaxis. Of them, 56.0% had severe PTSD (IES-R-K ≥ 40). Additionally, 23.2% and 28.1% of the patients had anxiety (K-BAI ≥ 22) and depression (K-BDI ≥ 17), respectively. IES-R-K was significantly correlated with both K-BAI (r = 0.609, P < 0.0001) and K-BDI (r = 0.550, P < 0.0001). Among the inflammatory mediators, tryptase levels were lower in patients exhibiting PTSD; meanwhile, platelet-activating factor levels were lower in patients exhibiting anxiety and depression while recovering from anaphylaxis. In multivariate analysis, K-BAI and K-BDI were identified as major predictive variables of PTSD in patients with anaphylaxis.CONCLUSIONS: In patients with anaphylaxis, we found a remarkably high prevalence of PTSD and associated psychological distresses, including anxiety and depression. Physicians ought to be aware of the potential for psychological distress in anaphylactic patients and to consider psychological evaluation.


Subject(s)
Adult , Humans , Anaphylaxis , Anxiety , C-Reactive Protein , Depression , Hospitals, University , Hypersensitivity , Interleukin-6 , Korea , Multivariate Analysis , Necrosis , Prevalence , Prospective Studies , Stress Disorders, Post-Traumatic , Tryptases
20.
Translational and Clinical Pharmacology ; : 160-167, 2020.
Article in English | WPRIM | ID: wpr-904125

ABSTRACT

Tofacitinib is an oral disease-modifying anti-rheumatic drug to selectively inhibit Janus kinases. Tofacitinib is a representative small molecule inhibitor that is used to treat many diseases including rheumatoid arthritis and various autoimmune conditions.Unlike biological agents, tofacitinib has several advantages, including the ability to be administered orally and a short half-life. This study aimed to evaluate the bioequivalence of the pharmacokinetics (PK) between tofacitinib aspartate 7.13 mg (test formulation) and tofacitinib citrate 8.08 mg (reference formulation; Xeljanz ® ) in healthy subjects. A randomized, open-label, single-dose, 2-sequence, 2-period, 2-treatment crossover trial was conducted in 41 healthy volunteers. A total of 5 mg of tofacitinib as the test or the reference formulation was administered, and serial blood samples were collected up to 14 hours after dosing for PK analyses. The plasma concentration of tofacitinib was determined by ultraperformance liquid chromatography-tandem mass spectrometry. A non-compartmental analysis was used to estimate the PK parameters. A total of 35 subjects completed the study and the study drug was well-tolerated. The mean maximum concentration (Cmax ) and area under the concentration-time curve from time zero to the time of the last quantifiable concentration (AUClast ) for the test formulation were 52.67 ng/mL and 133.86 ng·h/mL, respectively, and 50.61 ng/mL and 133.49 h·ng/mL for the reference formulation, respectively. The geometric mean ratios (90% confidence intervals) of the Cmax and AUClast between the 2 formulations were 1.041 (0.944–1.148) and 1.003 (0.968–1.039), respectively. Tofacitinib aspartate exhibited bioequivalent PK profiles to those of the reference formulation.Trial Registration: ClinicalTrials.gov Identifier: NCT04278391

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