Purpose: Red meat allergy has recently been described as rare food hypersensitivity with unique pathogenesis and clinical relevance of delayed anaphylaxis. The culprits are various mammal meats containing oligosaccharide epitope (galactose-α-1,3-galactose, α-gal). Interestingly, hard tick bites precede the onset of this allergic condition. The clinical characteristics of red meat allergy had never been reported in Korea. Methods: Among patients diagnosed with food hypersensitivity in a hospital located in Jeju, Korea, those with red meat allergy were recruited. Clinical characteristics were retrospectively reviewed and additionally interviewed. Results: Five patients (mean age, 57±4 years; 4 males and 1 female) were diagnosed as having red meat allergy. They suffered from hives, as the most common symptom, followed by shortness of breath from 10 minutes to 6 hours after exposure to the culprits. Four patients visited the emergency department for anaphylaxis. Culprits included beef, pork, dog, ham, goat, and roe deer. Chicken, duck, bacon, or horse did not cause clinical symptoms. In 4 patients, hard tick bites preceded the onset. Detection of specific IgE to α-gal and culprits such as beef and pork facilitated the confirmative diagnosis. They were advised to avoid mammal meats and to receive a prescription for self-injectable epinephrine. Conclusion Red meat allergy is one of the food hypersensitivities, characterized by severe and delayed allergic reactions to various meats. Red meat allergy may be a tick-borne illness in Jeju, Korea.

Renovascular hypertension (RVHT) is a major cause of surgically correctable secondary hypertension. Refractory hypertension despite multiple antihypertensive drugs requires angioplasty, surgical revascularization, or even nephrectomy. Herein, we report a pediatric patient who had been treated with angioplasty, nephrectomy, and aortorenal bypass surgery for RVHT due to fibromuscular dysplasia and re-do endoaneurysmal graft replacement for a vein graft aneurysm. This case highlights the various treatment modalities for RVHT and the recurrent nature of the disease with a rare presentation of a vein graft aneurysm after aortorenal bypass.

The reinforcement of regulation on of post-market safety management including adverse drug reactions (ADRs) has received significant emphasiszed significantly over the last several years in Korea. Not only has there been an increase in the number of spontaneous reports on ADRs, but an amendment of to the pharmaceutical law has been passed and notifications have noticeably been accelerated noticeably. However, compared with advanced countries, the efficiency of the system and people's satisfaction withon post-market safety management was has been as low as ever. This article focuses on the state of the regulations with regard to reporting of ADRs information. In addition, the status and kinds of drug utilization review informations offered by the Korea Food and Drug Administration were are illustrated in detail.
Drug Toxicity ; Drug Utilization Review ; Jurisprudence ; Korea ; Reinforcement (Psychology) ; Safety Management ; Social Control, Formal ; United States Food and Drug Administration

Spinocerebellar ataxias (SCAs) are autosomal dominant neurodegenerative disorders which disrupt the afferent and efferent pathways of the cerebellum that cause cerebellar ataxia. Spectrin beta non-erythrocytic 2 (SPTBN2) gene encodes the β-III spectrin protein with high expression in Purkinje cells that is involved in excitatory glutamate signaling through stabilization of the glutamate transporter, and its mutation is known to cause spinocerebellar ataxia type 5. Three years and 5 months old boy with delayed development showed leukodystrophy and cerebellar atrophy in brain magnetic resonance imaging (MRI). Diagnostic exome sequencing revealed that the patient has heterozygous mutation in SPTBN2 (p.Glu1251Gln) which is a causative genetic mutation for spinocerebellar ataxia type 5. With the patient's clinical findings, it seems reasonable to conclude that p.Glu1251Gln mutation of SPTBN2 gene caused spinocerebellar ataxia type 5 in this patient.
Amino Acid Transport System X-AG ; Atrophy ; Brain ; Cerebellar Ataxia ; Cerebellum ; Efferent Pathways ; Exome ; Glutamic Acid ; Humans ; Magnetic Resonance Imaging ; Male ; Neurodegenerative Diseases ; Purkinje Cells ; Spectrin ; Spinocerebellar Ataxias*

Background: : Effective communication between doctors and patients is very important not only for diagnosis and treatment but also for building trust. Although teaching communication skills is very important in medical schools, there are limitations such as the number of students and the uncertainty of the patient population. Therefore, this study evaluates the effect of Fishbowl method to teach communication skills to medical students, which involves the medical students communicating with standardized patients in front of a large classroom and being observed by rest of the students. Methods: : This study involves 10 weeks of educating 126 fourth grade medical students and graduates. During this period, total 8 classes were taken by subjects, where each class lasts 2 hours and is conducted by observing treatments of the standardized patients on 14 clinical topics by randomly selected medical students and giving feedback on the communication skills of the selected medical students. The educational effect was evaluated based on the scores of the clinical performance examination before and after the classes. Results: : The scores assessed for medical history taking before and after the training are increased by 2.45 (p<0.001) and the scores for patient-doctor relationship is increased by 7.56 (p<0.001). Conclusions : It is expected to improve the communication skills of medical students by large scale lectures with standardized patients.

Zinner's syndrome is a rare congenital abnormality of the mesonephric duct. Unilateral renal agenesis, ipsilateral seminal vesicle cyst, and ipsilateral ejaculatory duct obstruction are the triad of maldevelopment of the mesonephric duct which comprises Zinner's syndrome. It is an extremely rare case, in that approximately 100 cases only have been reported worldwide. We discovered a rare developmental anomaly with other mesonephric duct-associated abnormalities, Zinner's syndrome with a presumed ectopic prostate and triorchidism and do report here.

Fibroma of the tendon sheath is a benign slow-growing fibrous tumor. Although rare, cases occurring in the upper extremities usually involve the fingers. It appears as a well-defined, roundor oval-shaped mass originating from the flexor tendon. Abundant fibrous stroma makes fibromas appear as a low intensity mass in all MRI sequences. Most of the fibromas manifest as painless soft tissue masses. Herein, we report a case of fibroma of the tendon sheath with an unusual clinical presentation, triggering carpal tunnel syndrome during wrist movement.

Background: and Purpose There is extensive literature on monogenic epilepsies caused by mutations in familiar channelopathy genes such as SCN1A. However, information on other lesscommon channelopathy genes is scarce. This study aimed to explore the genetic and clinical characteristics of patients diagnosed with unusual voltage-gated sodium and potassium channelopathies related to epilepsy. Methods: This observational, retrospective study analyzed pediatric patients with epilepsy who carried pathogenic variants of unusual voltage-gated sodium and potassium channelopathy genes responsible for seizure-associated phenotypes. Targeted next-generation sequencing (NGS) panel tests were performed between November 2016 and June 2022 at Severance Children’s Hospital, Seoul, South Korea. Clinical characteristics and the treatment responses to different types of antiseizure medications were further analyzed according to different types of gene mutation. Results: This study included 15 patients with the following unusual voltage-gated sodium and potassium channelopathy genes: SCN3A (n=1), SCN4A (n=1), KCNA1 (n=1), KCNA2 (n=4), KCNB1 (n=6), KCNC1 (n=1), and KCNMA1 (n=1). NGS-based genetic testing identified 13 missense mutations (87%), 1 splice-site variant (7%), and 1 copy-number variant (7%). Developmental and epileptic encephalopathy was diagnosed in nine (60%) patients. Seizure freedom was eventually achieved in eight (53%) patients, whereas seizures persisted in seven (47%) patients. Conclusions Our findings broaden the genotypic and phenotypic spectra of less-common voltage-gated sodium and potassium channelopathies associated with epilepsy.

Epilepsy of infancy with migrating focal seizure (MFEI) is an early-onset epileptic encephalopathy characterized by randomly migrating focal seizures and psychomotor deterioration. It is associated with mutations in a variety of genes, with potassium sodium-activated channel subfamily T member 1 (KCNT1) being an example. Previously reported KCNT1 mutations in MFEI are gain-of-function mutations. Therefore, quinidine therapy targeted at reduction of pathologically increased KCNT1 channel-mediated potassium conductance has been proposed as a target treatment for MEFI with KCNT1 mutation. The authors report a case involving a patient with MFEI and a missense mutation in KCNT1 (c.7129G>A; p.Phe346Leu) treated with quinidine therapy. Seizure activity was poorly responsive to quinidine.
Brain Diseases ; Epilepsy* ; Humans ; Mutation, Missense ; Potassium ; Quinidine* ; Seizures*

BACKGROUND AND PURPOSE: Perampanel is the first α-amino-3-hydroxy-5-methyl-4-isoxazole-propionic acid (AMPA)-receptor antagonist developed to treat epilepsy. The effects of either rapid or slow dose titration on adverse events remain to be elucidated. METHODS: Eighty-five patients received perampanel between March 2016 and August 2016. Patients were divided into two groups according to their dosing schedule: rapid dose titration (2-mg increments at intervals of 1 to 2 weeks) and slow dose titration (2-mg increments at intervals of at least 3 weeks). Seizure frequency and adverse events were analyzed over 3 months. RESULTS: Adverse events were reported by 47 (58%) of the 81 patients analyzed, with 12 (15%) patients discontinuing perampanel due to adverse events. Common adverse events included dizziness (n=30, 37%), aggressive mood and behavior (n=19, 24%), gait disturbance (n=16, 20%), and sleep problems (n=10, 12.4%). The overall adverse events were similar in the slow-titration group (38 of 61 patients) and the rapid-titration group (8 of 20 patients, p=0.081). However, none of the 20 patients in the slow-titration group experienced gait disturbance, compared with 16 of the 61 patients in the rapid-titration group (p=0.009), while appetite change was experienced by 4 patients in the slow-titration group but only 1 in the rapid-titration group (p=0.003). No relationship was noted between adverse events and the maximum dose of perampanel (p=0.116). Sex differences were observed, with the response to perampanel being better and the rate of adverse events being higher in females (p=0.015 and p=0.046, respectively). CONCLUSIONS: Slow titration of perampanel may reduce perampanel-related adverse events.
Appetite ; Appointments and Schedules ; Dizziness ; Drug Resistant Epilepsy* ; Epilepsy ; Female ; Gait ; Humans ; Seizures ; Sex Characteristics