BACKGROUND: Autosomal-dominant brachydactyly type E is a congenital abnormality characterized by small hands and feet, which is a consequence of shortened metacarpals and metatarsals. We recently encountered a young gentleman exhibiting shortening of 4th and 5th fingers and toes. Initially, we suspected him having pseudopseudohypoparathyroidism (PPHP) because of normal biochemical parameters, including electrolyte, Ca, P, and parathyroid hormone (PTH) levels; however, his mother and maternal grandmother had the same conditions in their hands and feet. Furthermore, his mother showed normal biochemical parameters. To the best of our knowledge, PPHP is inherited via a mutated paternal allele, owing to the paternal imprinting of GNAS (guanine nucleotide binding protein, alpha stimulating) in the renal proximal tubule. Therefore, we decided to further analyze the genetic background in this family. METHODS: Whole exome sequencing was performed using genomic DNA from the affected mother, son, and the unaffected father as a negative control. RESULTS: We selected the intersection between 45,490 variants from the mother and 45,646 variants from the son and excluded 27,512 overlapping variants identified from the father. By excluding homogenous and compound heterozygous variants and removing all previously reported variants, 147 variants were identified to be shared by the mother and son. Variants that had least proximities among species were excluded and finally 23 variants remained. CONCLUSION: Among them, we identified a defect in parathyroid hormone like hormone (PTHLH), encoding the PTH-related protein, to be disease-causative. Herein, we report a family affected with brachydactyly type E2 caused by a novel PTHLH mutation, which was confused with PPHP with unclassical genetic penetrance.
Alleles ; Brachydactyly* ; Carrier Proteins ; Congenital Abnormalities ; DNA ; Exome ; Fathers ; Fingers ; Foot ; Genetic Background ; Grandparents ; Hand ; Humans ; Metacarpal Bones ; Metatarsal Bones ; Mothers ; Parathyroid Hormone ; Parathyroid Hormone-Related Protein ; Penetrance ; Pseudopseudohypoparathyroidism* ; Toes

BACKGROUND/OBJECTIVES: Given that adolescents watch Mukbang (eating broadcast) more frequently than other age groups, interest in the potential health effects of watching Mukbang and Cookbang (cooking broadcast) is growing. This study aimed to determine the status of watching Mukbang and Cookbang among Korean adolescents and its relationship with their dietary behaviors. SUBJECTS/METHODS: We used data from the 18th Korea Youth Risk Behavior Survey, conducted in 2022 (n = 51,850). The study included the frequency of watching Mukbang and Cookbang and the self-rated impact of watching them. Dietary behaviors included consumption of the following items: fruits (≥ once a day), vegetables (≥ 3 times a day), fast foods (≥ 3 times a week), late-night snacks (≥ 3 times a week), caffeinated drinks (≥ 3 times a week), and sweet-flavored drinks (≥ 3 times a week). Furthermore, obesity, weight loss attempts during the past 30 days, body image distortion, and inappropriate methods to control weight were also included. RESULTS: Among adolescents, 70.6% watched Mukbang and Cookbang, and 13.2% watched them more than 5 times a week. Approximately 27.6% of the adolescents responded that they were influenced by watching Mukbang and Cookbang. Adolescents who frequently watched Mukbang and Cookbang consumed less vegetable and fruit; however, the likelihood of consuming fast food, late-night snacks, sugary drinks, and caffeinated drinks increased. In addition, they were more likely to attempt inappropriate weight-loss methods and become obese. Adolescents who responded that their eating habits were influenced by watching Mukbang and Cookbang were more likely to have unhealthy eating behavior compared to the group who responded that their habits were not influenced by these shows. CONCLUSION Watching Mukbang and Cookbang is common among Korean adolescents and is associated with unhealthy dietary behaviors. Prospective studies, including broadcasting content, should evaluate the impact of Mukbang and Cookbang on health.

BACKGROUND/OBJECTIVES: Given that adolescents watch Mukbang (eating broadcast) more frequently than other age groups, interest in the potential health effects of watching Mukbang and Cookbang (cooking broadcast) is growing. This study aimed to determine the status of watching Mukbang and Cookbang among Korean adolescents and its relationship with their dietary behaviors. SUBJECTS/METHODS: We used data from the 18th Korea Youth Risk Behavior Survey, conducted in 2022 (n = 51,850). The study included the frequency of watching Mukbang and Cookbang and the self-rated impact of watching them. Dietary behaviors included consumption of the following items: fruits (≥ once a day), vegetables (≥ 3 times a day), fast foods (≥ 3 times a week), late-night snacks (≥ 3 times a week), caffeinated drinks (≥ 3 times a week), and sweet-flavored drinks (≥ 3 times a week). Furthermore, obesity, weight loss attempts during the past 30 days, body image distortion, and inappropriate methods to control weight were also included. RESULTS: Among adolescents, 70.6% watched Mukbang and Cookbang, and 13.2% watched them more than 5 times a week. Approximately 27.6% of the adolescents responded that they were influenced by watching Mukbang and Cookbang. Adolescents who frequently watched Mukbang and Cookbang consumed less vegetable and fruit; however, the likelihood of consuming fast food, late-night snacks, sugary drinks, and caffeinated drinks increased. In addition, they were more likely to attempt inappropriate weight-loss methods and become obese. Adolescents who responded that their eating habits were influenced by watching Mukbang and Cookbang were more likely to have unhealthy eating behavior compared to the group who responded that their habits were not influenced by these shows. CONCLUSION Watching Mukbang and Cookbang is common among Korean adolescents and is associated with unhealthy dietary behaviors. Prospective studies, including broadcasting content, should evaluate the impact of Mukbang and Cookbang on health.

BACKGROUND/OBJECTIVES: Given that adolescents watch Mukbang (eating broadcast) more frequently than other age groups, interest in the potential health effects of watching Mukbang and Cookbang (cooking broadcast) is growing. This study aimed to determine the status of watching Mukbang and Cookbang among Korean adolescents and its relationship with their dietary behaviors. SUBJECTS/METHODS: We used data from the 18th Korea Youth Risk Behavior Survey, conducted in 2022 (n = 51,850). The study included the frequency of watching Mukbang and Cookbang and the self-rated impact of watching them. Dietary behaviors included consumption of the following items: fruits (≥ once a day), vegetables (≥ 3 times a day), fast foods (≥ 3 times a week), late-night snacks (≥ 3 times a week), caffeinated drinks (≥ 3 times a week), and sweet-flavored drinks (≥ 3 times a week). Furthermore, obesity, weight loss attempts during the past 30 days, body image distortion, and inappropriate methods to control weight were also included. RESULTS: Among adolescents, 70.6% watched Mukbang and Cookbang, and 13.2% watched them more than 5 times a week. Approximately 27.6% of the adolescents responded that they were influenced by watching Mukbang and Cookbang. Adolescents who frequently watched Mukbang and Cookbang consumed less vegetable and fruit; however, the likelihood of consuming fast food, late-night snacks, sugary drinks, and caffeinated drinks increased. In addition, they were more likely to attempt inappropriate weight-loss methods and become obese. Adolescents who responded that their eating habits were influenced by watching Mukbang and Cookbang were more likely to have unhealthy eating behavior compared to the group who responded that their habits were not influenced by these shows. CONCLUSION Watching Mukbang and Cookbang is common among Korean adolescents and is associated with unhealthy dietary behaviors. Prospective studies, including broadcasting content, should evaluate the impact of Mukbang and Cookbang on health.

Severe neck pain, worsened by head rotation, may signal atlantoaxial joint involvement, prompting differentiation between inflammatory and mechanical causes. This study challenges conventions by presenting three cases where inflammatory diseases, typically associated with extremities, affect the atlantoaxial joint. Cases involve a 64-year-old woman with crowned dens syndrome (CDS) due to calcium pyrophosphate crystals, a 69-year-old male with septic arthritis at the C1-2 level and an 82-year-old female with rheumatoid arthritis (RA). Despite shared severe neck pain, patients with CDS and septic arthritis show notable neck rotation limitations, while the RA patient experiences joint pain without such constraints. Diagnostic methods include cervical computed tomography (CT) for CDS, and various imaging and blood tests for septic arthritis, and American College of Rheumatology/European League Against Rheumatism criteria (ACR/EULAR) for RA. These cases highlight atypical inflammatory manifestations at the atlantoaxial joint, urging consideration in severe neck pain scenarios.

BACKGROUND/OBJECTIVES: Given that adolescents watch Mukbang (eating broadcast) more frequently than other age groups, interest in the potential health effects of watching Mukbang and Cookbang (cooking broadcast) is growing. This study aimed to determine the status of watching Mukbang and Cookbang among Korean adolescents and its relationship with their dietary behaviors. SUBJECTS/METHODS: We used data from the 18th Korea Youth Risk Behavior Survey, conducted in 2022 (n = 51,850). The study included the frequency of watching Mukbang and Cookbang and the self-rated impact of watching them. Dietary behaviors included consumption of the following items: fruits (≥ once a day), vegetables (≥ 3 times a day), fast foods (≥ 3 times a week), late-night snacks (≥ 3 times a week), caffeinated drinks (≥ 3 times a week), and sweet-flavored drinks (≥ 3 times a week). Furthermore, obesity, weight loss attempts during the past 30 days, body image distortion, and inappropriate methods to control weight were also included. RESULTS: Among adolescents, 70.6% watched Mukbang and Cookbang, and 13.2% watched them more than 5 times a week. Approximately 27.6% of the adolescents responded that they were influenced by watching Mukbang and Cookbang. Adolescents who frequently watched Mukbang and Cookbang consumed less vegetable and fruit; however, the likelihood of consuming fast food, late-night snacks, sugary drinks, and caffeinated drinks increased. In addition, they were more likely to attempt inappropriate weight-loss methods and become obese. Adolescents who responded that their eating habits were influenced by watching Mukbang and Cookbang were more likely to have unhealthy eating behavior compared to the group who responded that their habits were not influenced by these shows. CONCLUSION Watching Mukbang and Cookbang is common among Korean adolescents and is associated with unhealthy dietary behaviors. Prospective studies, including broadcasting content, should evaluate the impact of Mukbang and Cookbang on health.

While phosphodiesterase type 5 inhibitors have been used for erectile dysfunction with acceptable safety profile, they can induce orthostatic hypotension in patients taking antihypertensive drugs with blood pressure lowering effect. This study evaluated the hemodynamic effects of 100 mg mirodenafil in hypertensive patients taking an amlodipine. Thirteen hypertensive patients who were taking 5 or 10 mg of amlodipine once daily participated in a randomized, double-blind, placebo-controlled, crossover study. A single oral dose of mirodenafil 100 mg or placebo was administered at 4.5 hour after administration of amlodipine. The maximal change in systolic and diastolic blood pressure (ΔmaxSBP and ΔmaxDBP) and pulse rate (ΔmaxPR) were compared between mirodenafil and placebo periods. Twelve patients completed this study and were included analysis. The values of ΔmaxPR in standing and supine position were significantly greater in the mirodenafil period (13.25±7.12 and 11.17±4.86 beats/minute) when compared to the placebo (8.50±4.72 and 6.58±3.90 beats/minute). The ΔmaxSBP and ΔmaxDBP in standing position appeared to be lower in the mirodenafil period, but they were not statistically different from those in the placebo period (ΔmaxSBP = -7.42±5.6 vs -4.42±5.37 mmHg and ΔmaxDBP = -7.17±5.72 vs -3.50±3.37 mmHg). Both ΔmaxSBP and ΔmaxDBP in standing and supine position were not significantly different between mirodenafil and placebo. This study demonstrated that mirodenafil exerted minimal hemodynamic effects in the patients taking amlodipine, that is unlikely associated with a clinically significant hypotensive event.
Amlodipine* ; Antihypertensive Agents ; Blood Pressure ; Cross-Over Studies ; Erectile Dysfunction ; Heart Rate ; Hemodynamics* ; Humans ; Hypotension, Orthostatic ; Male ; Phosphodiesterase 5 Inhibitors ; Posture ; Supine Position

Anarthria is a complete loss of speech. It usually results from lesions in bilateral neural substrates that control articulation. Recently, lateralized cortical control of speech articulation in the dominant hemisphere has been reported. However, anarthria by nondominant hemispheric lesion has not been reported yet. Here we report a rare case of transient anarthria caused by right hemispheric infarction after brain surgery in a righthanded patient. This report suggests that anarthria could be caused by a lesion not related to language lateralization. This report is expected to contribute to studies on neural correlates of anarthria lesions.

Background/Aims: Functional dyspepsia (FD) has long been regarded as a syndrome because its pathophysiology is multifactorial. However, recent reports have provided evidence that changes in the duodenal ecosystem may be the key. This study aimed to identify several gastrointestinal factors and biomarkers associated with FD, specifically changes in the duodenal ecosystem that may be key to understanding its pathophysiology. Methods: In this case-control study, 28 participants (12 with FD and 16 healthy control individuals) were assessed for dietary nutrients, gastrointestinal symptom severity, immunological status of the duodenal mucosa, and microbiome composition from oral, duodenal, and fecal samples. Integrated data were analyzed using immunohistochemistry, real-time polymerase chain reaction, 16S rRNA sequencing, and network analysis. Results: Duodenal mucosal inflammation and impaired expression of tight junction proteins were confirmed in patients with FD. The relative abundance of duodenal Streptococcus (p=0.014) and reductions in stool Butyricicoccus (p=0.047) were confirmed. These changes in the gut microbiota were both correlated with symptom severity. Changes in dietary micronutrients, such as higher intake of valine, were associated with improved intestinal barrier function and microbiota. Conclusions This study emphasizes the relationships among dietary nutrition, oral and gut microbiota, symptoms of FD, impaired function of the duodenal barrier, and inflammation. Assessing low-grade inflammation or increased permeability in the duodenal mucosa, along with changes in the abundance of stool Butyricicoccus, is anticipated to serve as effective biomarkers for enhancing the objectivity of FD diagnosis and monitoring.