Myhre syndrome (MS) is a rare autosomal-dominant disorder characterized by short stature, intellectual disability, skeletal anomalies, restricted joint mobility, distinctive facial dysmorphism, and deafness. Early diagnosis of MS is difficult because its features progress and become noticeable at school age. Recently, the SMAD4 gene was identified as the major gene responsible for MS. Herein, we report the first Korean case of MS after identification of a SMAD4 mutation by clinical exome sequencing. The patient was born small for gestational age, and she had the typical clinical features of MS, including short stature, characteristic facial appearance, developmental delay, and selective mutism. She was diagnosed with central precocious puberty. Because of the patient’s precocious puberty and short stature, we administered combined recombinant human growth hormone and gonadotropin-releasing hormone agonist treatments, which resulted in improved height. While there have been 79 cases of MS reported worldwide, to our knowledge, this is the first case of genetically-confirmed MS in Korea.

Myhre syndrome (MS) is a rare autosomal-dominant disorder characterized by short stature, intellectual disability, skeletal anomalies, restricted joint mobility, distinctive facial dysmorphism, and deafness. Early diagnosis of MS is difficult because its features progress and become noticeable at school age. Recently, the SMAD4 gene was identified as the major gene responsible for MS. Herein, we report the first Korean case of MS after identification of a SMAD4 mutation by clinical exome sequencing. The patient was born small for gestational age, and she had the typical clinical features of MS, including short stature, characteristic facial appearance, developmental delay, and selective mutism. She was diagnosed with central precocious puberty. Because of the patient’s precocious puberty and short stature, we administered combined recombinant human growth hormone and gonadotropin-releasing hormone agonist treatments, which resulted in improved height. While there have been 79 cases of MS reported worldwide, to our knowledge, this is the first case of genetically-confirmed MS in Korea.

Purpose: A comprehensive evaluation item was developed to assess adolescent dietary habits and nutritional practices, considering food intake, eating behaviors, and food culture, such as social support and food environment. Methods: The 59 candidate items of the evaluation checklist were obtained based on the results of the eighth Korea National Health and Nutrition Examination Survey data, Korea Dietary Reference Intakes, dietary guidelines for adolescents, Youth Risk Behavior Survey data, national nutrition policies and dietary guidelines, and literature reviews. Four hundred and three middle and high school students residing in metropolitan areas participated in a survey using the 58-item checklist, which was selected through expert evaluation and content validity ratio analysis.The construct validity of the assessment tool for the quality of adolescent diets was assessed by exploratory factor analyses to determine if the checklist items were organized properly and whether the responses to each item were distributed adequately. Results: The Bartlett sphericity test was significant for each area (p <0.001), and the eigen values were greater than one. The Kaiser-Meyer-Olkin and cumulative proportions by areas were food intake (0.765 and 56.8%, respectively), eating behaviors (0.544 and 64.8%, respectively), and food environment (0.699 and 62.4%, respectively). Twenty-two checklists were determined for the final evaluation items for the adolescents’ dietary habits and nutritional practices and were categorized into three distinct factors: food intake (10 items), eating behaviors (4 items), and food environment (8 items). Conclusion The evaluation items for adolescent dietary habits and nutritional practices is a useful checklist for easily and quickly assessing the dietary qualities and reflecting Korean adolescents and their food environmental factors related to a sustainable diet.

We aimed at assessing psychological variables and eating behaviors on quality of diet and life in South Korean women according to their weight status. Socio-psychology, eating behavior, quality of diet and quality of life data were assessed in 114 women (mean age: 34.5 ± 8.09 years). NEO Personality Inventory (NEO-PI-RS) and coping styles questionnaire were used to assess socio-psychology variables, and eating behavior was assessed using the Eating Attitudes Test-26 (EAT-26), Dutch Eating Behavior Questionnaire (DEBQ), and General Food Craving Questionnaire Test (G-FCQ-T). Quality of diet was analyzed by Diet Quality Index-international (DQI-I), and obesity-related quality of life was evaluated using the Korean Obesity-related Quality of life Scale (KOQOL). Significant differences were in the psychological variables and eating behaviors in the obese group than the normal and overweight groups (p < 0.05). The overall score of DQI-I was significantly lower in the obese group than that of their counterparts (p < 0.05). BMI was positively correlated with neuroticism, emotional eating, and obesity-related quality of life, and negatively correlated with diet quality. Neuroticism was positively correlated with emotional eating and food craving. Emotional eating was positively correlated with obesity-related quality of life. In conclusion, women with a higher BMI had significantly more problematic eating behaviors, poor diet quality and quality of life.
Craving ; Diet* ; Eating* ; Feeding Behavior* ; Female ; Humans ; Obesity ; Overweight ; Personality Inventory ; Quality of Life*

PURPOSE: The aim of this study was to evaluate the efficacy of pamidronate therapy in children and adolescents with secondary osteoporosis. METHODS: Nine patients (7 males, 2 females, 13.2 +/- 2.5 years, 10.1-17.4 years) with secondary osteoporosis who had a history of severe bone pain and/or fracture were enrolled. Intravenous pamidronate 1.5 mg/kg (0.5 mg/kg for 3 consecutive days) was given every 6 to 8 weeks for 0.86 +/- 0.15 years (6 or 8 cycles). Bone mineral density (BMD) in lumbar spine and femoral neck and their Z-scores were measured before treatment, after the fourth and last cycle (sixth or eighth cycle). RESULTS: Underlying diseases were as follows; neurofibromatosis type 1 (n = 2), epilepsy with/without cerebral palsy (N=2), autoimmune disease treated with steroid (n = 2), hematologic malignancy (n = 3). Bone pain was relieved in most of the patients after the first cycle of treatment, and no more fracture occurred thereafter. There was a significant increase in BMD Z-score of the lumbar spine and femoral neck after the last cycle of therapy, compared to baseline values (from -3.91 +/- 1.79 to 1.86 +/- 1.18, in L1-4 and -3.71 +/- 1.83 to -2.53 +/- 1.77 for femoral neck; P = 0.008 and 0.011, respectively). However, there was no significant change in BMD Z-scores between the fourth cycle and the last cycle. Fever developed in 7 out of 9 patients (77.8%), which was relieved by antipyretics. Total serum levels of calcium and phosphorus were significantly decreased (calcium, P = 0.008; phosphorus, P = 0.015) after pamidronate therapy, and three of them experienced symptomatic hypocalcemia during the first cycle. The growth velocity was normal during follow-up periods (mean, 4.47 +/- 1.69 years; range, 1.05 to 6.77 years). CONCLUSION: In conclusion, pamidronate can be administered to the patients with secondary osteoporosis, relieving the symptoms and signs effectively and safely. However, its side effects should be monitored during treatment.
Adolescent ; Antipyretics ; Autoimmune Diseases ; Bone Density ; Calcium ; Cerebral Palsy ; Child ; Diphosphonates ; Epilepsy ; Female ; Femur Neck ; Fever ; Follow-Up Studies ; Hematologic Neoplasms ; Humans ; Hypocalcemia ; Male ; Neurofibromatosis 1 ; Osteoporosis ; Phosphorus ; Spine

Appetite controlling has been an main strategy for regulating food intake and energy balance in obesity treatment. The aim of this study was to examine the effects of drinking tea of the medicinal herbs, fennel and fenugreek, on the subjective appetite in overweight Korean women. The study was conducted using a placebo-controlled, single-blinded, randomized, and 3-way crossover design. Nine healthy women were given fennel tea (FT), fenugreek tea (FGT), or placebo tea (PT). After drinking a given tea, a lunch buffet was provided and then food consumption of subjects was analyzed. Subjective appetite, hunger, fullness, desire to eat, and prospective food consumption were measured at seven independent time point using a visual analog scale (VAS). Mean age of 9 subjects were 49.7 +/- 4.5 years and their mean body mass index were 24.6 +/- 0.6 kg/m2. There was no significant difference in food consumption in the lunch buffet after drinking each tea; however, with respect to the subjective appetite scale, FGT decreased hunger, led to less prospective food consumption, and increased feelings of fullness compared with the PT (p < 0.05). Similarly, the consumption of FT resulted in decreased hunger, less prospective food consumption, and increased feelings of fullness compared with the PT (p < 0.05). The area under the curve of VAS graph indicated that FGT resulted in a higher feeling of fullness than the PT (p < 0.05). In conclusion, drinking the FT and FGT were significantly effective aid to suppress subjective appetite among overweight women in South Korea.
Appetite* ; Body Mass Index ; Cross-Over Studies ; Drinking* ; Eating ; Female ; Foeniculum* ; Humans ; Hunger ; Korea ; Lunch ; Obesity ; Overweight* ; Plants, Medicinal ; Tea* ; Trigonella* ; Visual Analog Scale

The burden of atherosclerotic cardiovascular disease (ASCVD) remains high worldwide, and its prevalence has increased in Asian countries over the last two decades. The increase in ASCVD may arise from complex interactions between genetic and lifestyle/environmental factors. Abnormal blood cholesterol levels, elevated blood glucose, obesity, elevated blood pressure, smoking, and family history are common risk factors of ASCVD. There is an increased burden of ASCVD in Asian countries, maybe due to rapid economic development and lifestyle changes in these countries. Nutrition is one of the major modifiable risk factors for ASCVD. Despite this, there are insufficient nutritional therapies for prevention and management of ASCVD in Asian patients. There is also a lack of relevant research in Asian populations. In this review, we describe the current nutritional guidelines and the findings from previous landmark studies regarding management and/or prevention of ASCVD. We also summarize the recommendations regarding evidence-based nutrition therapy/management strategies that may be effective in Asian subjects to prevent onset and/or to treat ASCVD.
Asian Continental Ancestry Group ; Atherosclerosis ; Blood Glucose ; Blood Pressure ; Cardiovascular Diseases ; Cholesterol ; Economic Development ; Humans ; Life Style ; Nutrition Therapy ; Obesity ; Prevalence ; Risk Factors ; Smoke ; Smoking

To obtain better esthetic results when immediately placing a dental implant, the soft tissue surrounding the implant must be conditioned during healing of the extraction socket. To this end, the emergence profile can be customized through immediate restoration of the provisional prosthesis, and good clinical results can be obtained at the time of definitive restoration in the future, resulting in high patient satisfaction. In this case, horizontal root fracture occurred after trauma to both maxillary central incisors.Immediate implant placement and loading was planned considering aesthetics and alveolar bone condition. By taking an impression using a digital intraoral scanner, a digital diagnostic wax-up was performed to make a more aesthetic prosthesis without applying external force to the traumatized teeth. Based on this, the ideal placement location was determined and immediate implant placement was performed using a 3D printed surgical guide. The provisional prosthesis was restored 5 days after placement, and the definitive zirconia crown was restored through soft tissue conditioning and customization using the shape of the provisional prosthesis for 3 months.

The concept of ‘Implant Supracrestal Complex (ISC)’ was introduced as a way to determine the impact of implant prosthetic design form on both short-term clinical outcomes and the long-term prognosis of bone and soft tissues around the implant.Implant-prosthesis-abutment complex design forms, such as implant-abutment design, junction, and location, can have important implications for the stable and healthy long-term maintenance of the tissues around the implant. In this case, a customized concave abutment and a prosthesis with an emergence angle of about 30 degrees were restored to a patient suffering from chronic soft tissue inflammation and pain after restoration of an implant prosthesis. It was confirmed that the new prosthesis improved complications by allowing sufficient bone and soft tissue space, achieved appropriate soft tissue sealing, and maintained the longterm stability of the implant.

Background: There is a debate regarding the safety of etomidate. We evaluated the effects of etomidate on mortality in a large cohort of critical care patients. Methods: This retrospective matched-cohort study was performed using the Medical Information Mart for Intensive Care version 3 (MIMIC-III) database. Among 12,526 adult patients who were prescribed etomidate or propofol on the first day of mechanical ventilation, 625 patients administered etomidate were statistically matched with 6,250 patients administered propofol. The primary outcome measures were all-cause in-hospital mortality, 48-hour survival, cardiovascular morbidity, and infectious morbidity. Logistic regression analysis with stepwise selection of variables was performed to examine the dose–mortality relationship of etomidate. Results: All-cause in-hospital mortality was 1.84 times higher in the etomidate cohort (OR, 1.84; 98.75% CI, 1.42, 2.37). Compared to the propofol cohort, the etomidate cohort showed 57% lower odds of 48-hour survival (0.43 [0.27, 0.73]), no difference in odds of cardiovascular morbidity (0.86 [0.66, 1.12]), and 1.77 times higher odds of infectious morbidity (1.77 [1.35, 2.31]). Additionally, the odds of mortality increased by 1.36 times per 0.1 mg/kg of etomidate (1.36 [95% CI: 1.23, 1.49]). Conclusions Etomidate is a poor choice as a hypnotic drug on the first day of mechanical ventilation, as it is associated with a dose-dependent increase in all-cause mortality, and does not improve survival for the first 48 h.