Ultrasonographic Localization of Parotid Gland Tumor Relative to the Facial Nerve Using Stensen's Duct Criterion.

PURPOSE: During the preoperative evaluation of parotid gland tumors, one of the main concerns is to determine the location of the tumors in relation to the facial nerve. This study aims to assess the value of ultrasound for determining the location of parotid gland tumors in relation to the facial nerve using Stensen's duct. METHODS: This is a retrospective cross-sectional study at a single institute. The subjects who underwent preoperative ultrasound and parotidectomy for parotid gland tumors were included. The subjects with incomplete operative records or no reference standard for the location of parotid gland tumor were excluded. The primary predictor was ultrasound tumor location, which was defined as the location of parotid gland tumors determined by preoperative ultrasound as to whether the tumors were superficial or deep to the facial nerve. The operative records were used as the reference standard for the location of parotid gland tumors. The primary outcome was diagnostic performances of preoperative ultrasound in predicting the location of parotid gland tumors, which were calculated by comparing ultrasound tumor location to the reference standard. Covariates were sex, age, type of surgery, tumor size, and tumor histology. Data analysis involved descriptive and analytic statistics; P < .05 was considered statistically significant. RESULTS: One hundred and two of 140 eligible subjects met inclusion and exclusion criteria. There were 50 male and 52 female, with a mean age of 53.3 years. Ultrasound tumor location was classified as deep in 29 subjects, superficial in 50, and indeterminate in 23. The reference standard was deep in 32 subjects and superficial in 70. Indeterminate ultrasound tumor location results were grouped as either deep or superficial to make every possible cross table in which ultrasound tumor location results were presented as a dichotomy. The mean sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of the ultrasound to predict the deep location of parotid tumors were 87.5, 82.1, 70.2, 93.6, and 83.8%, respectively. CONCLUSIONS: Stensen's duct on ultrasound can be a useful criterion to determine the location of parotid gland tumor relative to the facial nerve.

Blood lead concentrations and attention deficit hyperactivity disorder in Korean children: a hospital-based case control study.

BACKGROUND: Because the developing brain of a child is vulnerable to environmental toxins, even very low concentration of neurotoxin can affect children's neurodevelopment. Lead is a neurotoxic heavy metal which has the harmful effect on the striatal-frontal circuit of brain. This area of the brain is known to be closely related to attention deficit hyperactivity disorder (ADHD) pathophysiology. The primary objective of the present study was to investigate whether elevated blood lead concentration is a risk factor for ADHD. The secondary objective was to examine the association between blood lead concentration and symptom severity. METHODS: We conducted a frequency-matched, hospital-based case-control study with 114 medically diagnosed ADHD cases and 114 controls. The participants were matched for age and sex. The diagnoses of ADHD were assessed with semi-structured diagnostic interviews. The participants completed the continuous performance test (CPT), and their parents completed the ADHD-rating scale (ADHD-RS). Blood lead concentrations were measured by using graphite furnace atomic absorption spectrometry featuring Zeeman background correction. RESULTS: Children with ADHD exhibited blood lead concentrations that were significantly higher than those of the controls ( 1.90 ± 086 µg/dℓ vs. 1.59 ± 0.68 µg/dℓ, p = 0.003). The log transformed total blood lead concentration was associated with a higher risk of ADHD (OR: 1.60, 95 % CI: 1.04-2.45, p < 0.05). The analysis also revealed that the children with blood lead concentrations above 2.30 µg/dℓ were at a 2.5-fold (95 % CI: 1.09-5.87, p < 0.05) greater risk of having ADHD. After adjusting for covariates, our multivariate regression models indicated that blood lead concentrations were not significantly associated with ADHD-RS or CPT profiles among the ADHD cases. CONCLUSION: Even low blood lead concentrations are a risk factor for ADHD in children. This study warrants primary prevention policies to reduce the environmental lead burden. Future studies may be required to ascertain the effects of lead on symptom severity in ADHD.

Effect of the low- versus high-intensity exercise training on endoplasmic reticulum stress and GLP-1 in adolescents with type 2 diabetes mellitus.

[Purpose] The primary objective of this study was to investigate the effect of low-intensity exercise training compare with high-intensity exercise training on endoplasmic reticulum stress and glucagon-like peptide-1 in adolescents with type 2 diabetes mellitus. [Subjects and Methods] The low-intensity exercise training group performed aerobic exercise training at an intensity of ≤ 45% of the heart rate reserve. The high-intensity interval exercise training group performed interval exercise training at an intensity of ≥ 80% of the heart rate reserve. The exercise-related energy consumption was determined for both groups on a per-week basis (1,200 kcal/week). [Results] Both groups showed improvement in the glucose-regulated protein 78 and dipeptidyl peptidase-4, but the size of the between-group effect was not statistically significant. The high-intensity interval exercise training group showed a significant reduction in percentage body fat. The C-peptide level increased after the 12-weeks programs and was significantly different, between the groups. Fasting glucose, insulin resistance in the fasting state according to homeostasis model assessment, and leptin decreased after the 12-weeks exercise program and were significantly different between the groups, and glucagon-like peptide-1 increased after the 12-week exercise programs and was significantly different between the groups. [Conclusion] In conclusion high-intensity interval exercise training, as defined in this study, may lead to improvements in body composition, glycemic control, endoplasmic reticulum stress, and the glucagon-like peptide-1 in adolescents with type 2 diabetes mellitus.

MR imaging of articular cartilage at 1.5T and 3.0T: comparison of IDEAL 2D FSE and 3D SPGR with fat-saturated 2D FSE and 3D SPGR in a porcine model.

BACKGROUND: IDEAL technique is a robust fat-water separation method which is potentially useful in cartilage imaging with significant improvement in the cartilage signal-to-noise ratio (SNR). PURPOSE: To identify whether iterative decomposition of water and fat with echo asymmetry and least-squares estimation (IDEAL) improved diagnostic performance for IDEAL 2D fast spin echo (FSE) and 3D spoiled gradient-recalled echo (SPGR) versus fat-saturated (FS) protocols at 1.5 and 3.0 T in the evaluation of patella-femoral cartilage lesions. MATERIAL AND METHODS: Forty-six artificial cartilage lesions were created in femoro-patellar articular cartilages of 11 porcine knees. All knees underwent MR examination at 1.5 and 3.0 T with MR protocol consisting of sagittal FS 2D FSE and 3D SPGR and IDEAL 2D FSE and IDEAL 3D SPGR, respectively. Qualitative assessment was performed to compare the diagnostic performance between 1.5- and 3.0-T protocols and between IDEAL and FS protocols. RESULTS: IDEAL 3D SPGR had a significantly higher accuracy for detecting partial thickness cartilage lesions (P < 0.01) than FS SPGR protocols, whereas there was no significant difference in diagnostic performance between IDEAL and FS 2D FSE except for one cartilage lesion. For all imaging sequences, no significant difference was observed in the diagnostic performance between 1.5- and 3.0-T imaging protocols (P = 0.42-0.91). CONCLUSION: Compared with conventional FS SPGR imaging, IDEAL 3D SPGR provided a better diagnostic performance for evaluation of porcine knee articular cartilage lesions in the knee joints at 1.5 and 3.0 T. IDEAL 3D SPGR may therefore be useful for detecting partial-thickness cartilage lesions in patients with degenerative osteoarthritis.

The Effects of 12 Weeks Regular Aerobic Exercise on Brain-derived Neurotrophic Factor and Inflammatory Factors in Juvenile Obesity and Type 2 Diabetes Mellitus.

[Purpose] The purpose of this study was to investigate the effects of 12 weeks regular aerobic exercise on brain-derived neurotrophic factor (BDNF) and inflammatory factors in juvenile obesity and type 2 diabetes mellitus (T2DM). Obesity and T2DM, typically common among adults, have recently become more prevalent in the Korean juvenile population, affecting not only their lipid profiles and oxidant stress levels, but also their BDNF and inflammatory factor levels. [Subjects] This study enrolled 26 juveniles (boys = 15, girls = 9) who were assigned to a control group (CG, n = 11), obesity group (OG, n = 8), or T2DM group (TG, n = 7). [Methods] The outcome of a 40-60-minute aerobic exercise session that took place three times per week for 12 weeks at a maximum oxygen intake (VO2max) of 50~60% was investigated. [Results] The exercise resulted in a significant reduction in the resting serum BDNF and TrkB levels (baseline) among juveniles in the OG and TG as compared to those in the CG. Additionally, the 12 weeks of regular aerobic exercise led to significant reductions in body weight, body fat percentage, and body mass index in the OG and a significant increase of VO2max in the OG and TG. However, no significant differences in serum NGF or inflammatory factors were found among the three groups. There was a significant increase in resting serum BDNF levels following the 12 weeks regular exercise only in the OG. [Conclusion] While 12 weeks of regular aerobic exercise had a positive effect on body composition, and increased BDNF levels of juveniles in the OG, it did not affect the inflammatory factor levels and had no effect on the TG.

Factors affecting exclusive breast-feeding during the first 6 months in Korea.

BACKGROUND: The aim of this study was to identify the status of exclusive breast-feeding (EBF) in Korea and analyze the factors affecting exclusive breast-feeding at 6 months of age. METHOD: This study was based on data obtained from the Korea National Health and Nutrition Examination Survey (KNHANES) IV, conducted from January 2007 to December 2008. A total of 404 mother-infant pairs were recruited. Exclusive breast-feeding was defined according to the criteria established by the World Health Organization. RESULT: The rate of EBF was 60.9% for 1 month, 55.0% for 3 months, 35.4% for 6 months, 3.7% for 9 months and 1.2% for 12 months after birth. According to a stepwise logistic regression analysis, factors that were positively associated with EBF at 6 months were younger maternal age (odds ratio [OR] = 0.85, 95% confidence interval [CI]: 0.79-0.92), higher maternal education level (OR = 2.29, 95%CI: 1.17-4.46) and living in a capital city (OR = 2.64, 95%CI: 1.46-4.75). CONCLUSION: The rate of EBF in Korea is still suboptimal. To promote EBF, persistent and systematic education and campaigns for breast-feeding should be provided, particularly in vulnerable regions.

Associations between non-restorative sleep, short sleep duration and suicidality: findings from a representative sample of Korean adolescents.

AIMS: This study clarifies the associations among sleep duration, non-restorative sleep, suicidal ideation and suicide attempts in a representative sample of Korean adolescents. METHODS: Analyses are based on data from the 2007 Korean Youth Risk Behavior Web-based Survey. The survey used a cross-sectional, national and representative sample consisting of 78 843 students (grades 7-12) who were selected using a stratified, clustered, multistage sampling method. Logistic regression analysis was conducted to test the association between sleep and suicide variables while controlling for demographic characteristics and other potential risk factors of suicide. RESULTS: Fewer than 4 h of sleep and a lack of feeling refreshed after sleeping increased the likelihood of suicidal ideation but not of suicide attempts. CONCLUSIONS: Non-restorative sleep as well as short sleep duration are significantly associated with suicidal ideation in adolescents. This finding highlights the need to assess for both non-restorative sleep and short sleep duration when screening suicide risk in adolescents. Future research should examine the moderating or mediating effects of individual and environmental characteristics on the association between sleep and actual suicide attempt.

Effect of eardrum perforation and chronic otitis media on the results of infrared tympanic thermometer in adults: A systematic review and meta-analysis.

BACKGROUND: This study was conducted to determine whether tympanic membrane perforation or chronic otitis media affects the results of an infrared tympanic membrane thermometer in adults. METHODS: A literature search was performed using PubMed, Embase, Cochrane Library, Web of Science, and Google Scholar. RESULTS: Four nonrandomized studies were included in the analysis. The temperatures of the bilateral eardrums (one eardrum with normal condition [control group] and the other eardrum with perforation or chronic otitis media [experimental group]) were measured for the same subject in the studies. The mean and standard deviation of the bilateral tympanic membrane temperatures were used to calculate the mean difference (MD) with a corresponding 95% confidence interval (CI). The fixed-effect model was utilized based on the results of the heterogeneity measurement using the Chi2 test and I2 statistic. The results of a meta-analysis in the normal eardrum (control group) and perforated eardrum, chronic suppurative otitis media with tympanic membrane perforation, or chronic otitis media with cholesteatoma (experimental group) were 343 subjects (MD = 0.05; 95% CI = -0.00 to 0.11; P = .06). A meta-analysis of the normal eardrum (control group) and perforated eardrum or chronic suppurative otitis media with tympanic membrane perforation except for cholesteatoma (experimental group) found 296 subjects (MD = 0.05; 95% CI = -0.01 to 0.11; P = .10). CONCLUSION: When the temperatures of the bilateral eardrums were measured using an infrared tympanic membrane thermometer, no difference was observed between the eardrum with perforation or chronic otitis media and the normal eardrum.

The effects of detraining on blood adipokines and antioxidant enzyme in Korean overweight children.

The present study examined the change to clarify the effects of detraining on the concentration of lipid profiles, serum adipokines and antioxidant enzyme gene expression in Korean overweight children. The subjects were normal children (n = 19) and obese children (n = 20) who were further subdivided into the overweight training (OT) group (n = 10) and the overweight detraining (OD) group (n = 10). Maximal oxygen uptake (VO(2)max); body composition; lipid profiles (TG, TC); adipokines (adiponectin and leptin); antioxidants (blood and gene expressions SOD and GPX) were measured before, 12 weeks, and 24 weeks after the exercise program. Body mass index (BMI) and %fat were significantly higher in the OD group only. However, waist hip ration (WHR) and systolic blood pressure (SBP) were significantly decreased in the OT group. TG was significantly decreased in the OT group. There was a significant difference in TG level between the two groups. Besides, adiponectin was significantly increased in both the OT group and the OD group. Furthermore, leptin was significantly decreased in the OT group. There was a significant difference in leptin level between the two groups. In training groups, the expression of SOD was significantly increased after a 12- and 24-week period (p < 0.05). However, detraining group was significantly increased after a 12-week only (p < 0.05). In addition, GPX was significantly increased after a 24-week only in the training group (p < 0.05). Thus, detraining showed that negative effected on body composition and lipid profiles and maintained of uniform period on adipokines and antioxidant enzyme the protein and expression.

Fibrous dysplasia of the maxillary bone secondary to sinus surgery in an elderly patient: A case report.

Fibrous dysplasia (FD) is a rare benign disease that replaces a normal bone with abnormal fibrous and weak osseous tissue. It is usually detected in childhood and rarely occurs in old age. Although the disease is known to be caused by a genetic mutation, only a single case of FD secondary to surgery is reported in the literature. We report a case of monostotic FD of the maxillary sinus in a 70-year-old Asian woman who presented with incidental calcific lesion in the maxillary sinus on a brain computed tomography scan. At 32 months prior to presentation, the patient had undergone an endoscopic sinus surgery for a fungal ball of the same sinus. The lesion was removed by endoscopic surgery, and the histopathological evidence was consistent with FD. To the best of our knowledge, this is the second case of a postsurgical craniofacial FD, and a rare case that occurred in old age.

Response to growth hormone according to provocation test results in idiopathic short stature and idiopathic growth hormone deficiency.

PURPOSE: To investigate growth response in children with either idiopathic short stature (ISS) or growth hormone (GH) deficiency (GHD). METHODS: The data of prepubertal GHD or ISS children treated using recombinant human GH were obtained from the LG Growth Study database. GHD children were further divided into partial and complete GHD groups. Growth response and factors predicting growth response after 1 and 2 years of GH treatment were investigated. RESULTS: This study included 692 children (98 with ISS, 443 partial GHD, and 151 complete GHD). After 1 year, changes in height standard deviation score (ΔHt-SDS) were 0.78, 0.83, and 0.96 in ISS, partial GHD, and complete GHD, respectively. Height velocity (HV) was 8.72, 9.04, and 9.52 cm/yr in ISS, partial GHD, and complete GHD, respectively. ΔHt-SDS and HV did not differ among the 3 groups. Higher initial body mass index standard deviation score (BMI-SDS) and midparental height standard deviation score (MPH-SDS) were predictors for better growth response after 1 year in ISS and the partial GHD group, respectively. In the complete GHD group, higher Ht-SDS and BMI-SDS predicted better growth response after 1 year. After 2 years of GH treatment, higher BMI-SDS and MPH-SDS predicted a better growth outcome in the partial GHD group, and higher MPH-SDS was a predictor of good growth response in complete GHD. CONCLUSION: Clinical characteristics and growth response did not differ among groups. Predictors of growth response differed among the 3 groups, and even in the same group, a higher GH dose would be required when poor response is predicted.

Clinical practice guidelines for optimizing bone health in Korean children and adolescents.

The Committee on Pediatric Bone Health of the Korean Society of Pediatric Endocrinology has newly developed evidence-based clinical practice guidelines for optimizing bone health in Korean children and adolescents. These guidelines present recommendations based on the Grading of Recommendations, which includes the quality of evidence. In the absence of sufficient evidence, conclusions were based on expert opinion. These guidelines include processes of bone acquisition, definition, and evaluation of low bone mineral density (BMD), causes of osteoporosis, methods for optimizing bone health, and pharmacological treatments for enhancing BMD in children and adolescents. While these guidelines provide current evidence-based recommendations, further research is required to strengthen these guidelines.

Low-dose mitotane-induced neurological and endocrinological complication in a 5-year-old girl with adrenocortical carcinoma.

Mitotane is an adrenolytic drug that exhibits therapeutic effects within a narrow target range (14-20 µg/dL). Various complications develop if the upper limit is exceeded. We present the case of a 5-year-old girl with breast development, acne, and pubic hair who was diagnosed with an adrenal mass that was subsequently excised. The pathological finding was adrenocortical carcinoma with a high risk of malignancy, and adjuvant therapy (combined mitotane and radiation therapy) was recommended. Mitotane was initiated at a low dose to allow monitoring of the therapeutic drug level, and high-dose hydrocortisone was also administered. However, the patient exhibited elevated adrenocorticotropic hormone levels and vague symptoms such as general weakness and difficulty concentrating. It was important to determine if these symptoms were signs of the neurological complications that develop when mitotane level is elevated. Encephalopathy progression and pubertal signs appeared 6 months after diagnosis, induced by high mitotane level. The mitotane decreased to subtherapeutic level several months after its discontinuation, at which time endocrinopathy (central hypothyroidism, hypercholesterolemia, and secondary central precocious puberty) developed. The case shows that low-dose mitotane can trigger neurological and endocrinological complications in a pediatric patient, indicating that the drug dose should be individualized with frequent monitoring of the therapeutic level.

Temporal Trends for Diabetes Management and Glycemic Control Between 2010 and 2019 in Korean Children and Adolescents with Type 1 Diabetes.

Purpose: There is increasing use of modern devices in the management of patients with type 1 diabetes (T1D). We investigated temporal trends for diabetes management and outcomes in Korean pediatric T1D patients over 10 years. Methods: We retrospectively collected the data from 752 participants (boys: 311, 41.4%) diagnosed with T1D and aged ≤18 years, with ≥1 year of follow-up between 2010 and 2019 in any of the seven study hospitals in Korea. Results: Over the 10-year study period, use of continuous glucose monitoring (CGM) increased from 1.4% to 39.3%. From 2010 to 2019, there was an increased use of multiple daily insulin injections (MDI; 63.9%-77.0%, respectively) and continuous subcutaneous insulin infusion (CSII; 2.1%-14.0%, respectively), but decreased use of conventional insulin therapy (CIT, 33.9%-9.0%, respectively). Mean glycated hemoglobin (HbA1c) decreased from 8.56% to 8.01% (P < 0.001) and was lower in younger patients, boys, and CGM users (P < 0.001). MDI and CSII users had lower mean HbA1c levels than CIT users (P = 0.003). Regarding the acute complications of T1D, CGM use was associated with lower incidences of diabetic ketoacidosis (P = 0.015); CSII users were likely to experience less severe hypoglycemia (P = 0.008). Conclusions: The use of CSII and CGM increased ∼7- and 30-fold, respectively, over the 10-year study period. The glycemic control of pediatric T1D patients in Korea improved from 2010 to 2019, probably because of increased use of T1D technologies.

Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism.

OBJECTIVE: Pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP) are rare disorders resulting from genetic and epigenetic aberrations in the GNAS locus. DESIGN: Investigation of clinical characteristics and molecular analysis in PHP and PPHP. PATIENTS: Fourteen subjects from 13 unrelated families including subjects with PPHP (n = 1), PHP-Ia (n = 6) and PHP-Ib (n = 7) were enrolled. MEASUREMENTS: Clinical data, including age at presentation, presenting symptom, auxological findings, family history, presence of Albright hereditary osteodystrophy (AHO) features and hormonal and biochemical findings, were analysed. The GNAS locus was subjected to direct sequencing and methylation analysis using methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA). RESULTS: Of the 13 PHP subjects, 10 (three PHP-Ia and seven PHP-Ib) presented with hypocalcemic tetany at ages ranging from 7 to 14·8 years. Subcutaneous calcification was observed as an early manifestation of AHO in one PHP-Ia patient (age, 2·9 years) and one PPHP patient (age, 7 months). Six PHP-Ia and one PPHP harboured four different heterozygous mutations within the coding region of GNAS, p.Asp189_Tyr190delinsMetfxX14, p.Val117fsX23, p.Tyr190CysfsX19, and a splicing mutation (c.659 + 1G>A), of which the latter two were novel. Five subjects with PHP-Ib exhibited complete loss of the maternal-specific methylation pattern. The remaining two PHP-Ib showed a loss of methylation of exon 1A on the maternal allele as a consequence of heterozygous 3-kb microdeletions within the STX16 gene. CONCLUSIONS: GNAS mutation analyses and MS-MLPA assays are useful molecular tools for understanding the molecular bases and confirming the diagnosis of PHP and PPHP.

Independent relationships of obesity and insulin resistance with serum proinsulin level in prepubertal children with normal glucose tolerance.

OBJECTIVES: We compared the fasting serum proinsulin levels in lean, overweight, and obese prepubertal children with normal glucose tolerance (NGT). We also evaluated the relationship between fasting proinsulin level and indices of insulin resistance (IR). SUBJECTS AND METHODS: One hundred nine prepubertal children (mean age, 8.6 yr) with NGT were included. The indices of IR included the homeostasis model assessment of IR (HOMA-IR) and adiponectin level. We recorded the presence of one or more of the following metabolic derangements: triglycerides ≥ 150 mg/dL, HDL-cholesterol < 35 mg/dL, and hypertension. RESULTS: Fasting proinsulin levels significantly increased with body mass index (BMI) category from lean (n = 52, 7.22 ± 3.01 pmol/L) to overweight (n = 14, 12.31 ± 2.91 pmol/L) to obese (n = 43, 16.51 ± 7.27 pmol/L) (p < 0.001), after controlling for HOMA-IR. The ratio of the fasting levels of proinsulin to insulin did not differ significantly between the three groups. Both BMI z-score and HOMA-IR were significant independent factors related to the fasting proinsulin level (p < 0.001 for each). A significant inverse association was found between fasting proinsulin level and adiponectin level (r = -0.464, p < 0.001). Children with NGT who had at least one metabolic derangement had higher proinsulin levels than those without metabolic derangement. CONCLUSIONS: Obesity itself or obesity-related IR may independently impose ß-cell overload on prepubertal children with NGT, leading to hyperproinsulinemia without causing failure to convert proinsulin to insulin when some degree of IR and metabolic derangement appears.

Gender and prevalence of knee osteoarthritis types in elderly Koreans.

We undertook to document sex differences in the prevalence of knee osteoarthritis (OA) at different disease stages in an elderly Korean population. Prevalence of 3 stages of knee OA (radiographic OA, severe radiographic OA, and candidacy for total knee arthroplasty [TKA]) was investigated in 696 elderly (≥65 years old) Korean subjects. Multivariate logistic regression was performed to evaluate associations between the risk factors of OA at these 3 disease stages. The overall prevalence of knee OA was 38.1% for radiographic OA, 26.4% for severe radiographic OA, and 6.5% for advanced OA warranting TKA. Women had much higher prevalence for all 3 stages. Female sex was found to be the strongest predictor for all 3 disease stages, but this was most remarkable for TKA candidates. This study documents that knee OA is highly prevalent among Korean elderly and that elderly Korean women are at much greater risk of requiring TKA.

A pathogenic PHEX variant (c.1483-1G>C) in a Korean patient with X-linked hypophosphatemic rickets.

X-linked hypophosphatemic rickets is an X-linked dominantly inherited disorder characterized by defects in renal phosphate transport leading to phosphate wasting and hypophosphatemia. In this report, we describe a case of X-linked hypophosphatemic rickets in a patient with a rare pathogenic PHEX variant. The 25-year-old female patient came to our clinic for genetic counseling regarding presumed genetic disease and pregnancy. When she was 9 years old, she had been diagnosed with vitamin D-resistant rickets based on laboratory results and symptoms. She had undergone orthopedic surgery due to bowing leg deformities. Since then, she was intermittently self-prescribing oral phosphate and calcium supplements. At 25 years old, she was diagnosed with X-linked hypophosphatemic rickets with a rare pathogenic PHEX variant (c.1483-1G>C) by next-generation sequencing. This is the second report of the c.1483-1G>C variant to date, and her pathogenicity was confirmed based on the most recent guideline. Traditionally, the disease had been diagnosed mostly based on clinical findings. However, with advancements in genetic testing, genetic confirmation has become an imperative part of diagnostic workup. Herein, we report a 25-year-old female Korean patient diagnosed with X-linked hypophosphatemic rickets harboring a rare pathogenic PHEX variant.

A national survey of transition from pediatric to adult healthcare providers for adolescents and young adults with type 1 diabetes: perspectives of pediatric endocrinologists in Korea.

PURPOSE: Transition from pediatric to adult healthcare for adolescents and young adults with type 1 diabetes (T1D) increases the risk for poor outcomes. This study aimed to describe the circumstances and clinical practice patterns associated with this transition of care based on a nationwide survey of pediatric endocrinologists in Korea. METHODS: An electronic survey regarding the healthcare transition of T1D patients was administered to 143 pediatric endocrinologists registered in the Korean Society of Pediatric Endocrinology. RESULTS: The response rate was 50.2% (n=72). Among responders, 58.3% (n=42) were females, and 70.8% (n=51) worked in academic medical centers. The main reasons for transfer to adult care were request from a patient or family (69.6%) and age ≥18 years (42.0%). Impediments to transition were a long-lasting therapeutic relationship (72.9%) and lack of adult specialists in T1D care (62.9%). Communication between pediatric and adult endocrinologists was via nonstructured patient summary (68.6%) and telephone or email (27.1%). Responders reported that successful transition requires development of transition protocols (79.2%) and a multidisciplinary team approach for transition care (52.8%). CONCLUSION: Transition care of T1D patients is a challenge to pediatric endocrinologists in Korea. Development of transition care protocols for healthcare providers and improvement of diabetes self-management skills for patients are needed.

Gender differences in the correlation between symptom and radiographic severity in patients with knee osteoarthritis.

BACKGROUND: The effects of gender on the relationship between symptom manifestations and radiographic grades of knee osteoarthritis are not well understood. QUESTIONS/PURPOSES: We therefore determined the increments of symptom progression with regard to radiographic grades of knee osteoarthritis and asked if those increments differed by gender and whether symptom severity was differentially manifested by gender within the same grade. METHODS: We recruited 660 community residents; 368 (56%) women and 292 (44%) men. The mean subject age was 71.5 years (range, 65-91 years). Severity of symptoms was measured using the WOMAC and SF-36 scales, and the radiographic severity using Kellgren-Lawrence grades. Incremental changes in WOMAC and SF-36 scores were compared between adjacent Kellgren-Lawrence grades separately in men and women, and in the overall population. We compared symptom severity between men and women with the same radiographic grade. RESULTS: For the entire cohort, the mean incremental change in symptom severity was not gradual between the adjacent radiographic grades but was greater between Kellgren-Lawrence Grades 1 and 2 and Grades 2 and 3 than between Grades 0 and 1 or Grades 3 and 4. The patterns of incremental changes in symptom severity differed between men and women: women had more severe symptom progression between Kellgren-Lawrence Grades 2 and 3 and Grades 3 and 4 than men. Furthermore, women had worse mean WOMAC and SF-36 scores than men with the same radiographic grade of knee osteoarthritis. CONCLUSIONS: These data suggest symptom progression is not gradual between adjacent radiographic grades, and for the same radiographic grade, symptoms are worse in women. LEVEL OF EVIDENCE: Level III, diagnostic study. See Guidelines for Authors for a complete description of levels of evidence.