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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.
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Background@#and Purpose A multifactorial antiepileptic mechanism underlies the ketogenic diet (KD), and one of the proposed mechanisms of action is that the KD inhibits the mammalian target of rapamycin (mTOR) pathway. To test this clinically, this study aimed to determine the efficacy of the KD in patients with pathologically confirmed focal cortical dysplasia (FCD) due to genetically identifiable mTOR pathway dysregulation. @*Methods@#A cohort of patients with pathologically confirmed FCD after epilepsy surgery and who were screened for the presence of germline and somatic mutations related to the mTOR pathway in peripheral blood and resected brain tissue was constructed prospectively. A retrospective review of the efficacy of the prior KD in these patients was performed. @*Results@#Twenty-five patients with pathologically confirmed FCD and who were screened for the presence of detectable somatic mTOR pathway mutations had received a sufficient KD. Twelve of these patients (48.0%) had germline or somatic detectable mTOR pathway mutations. A response was defined as a ≥50% reduction in seizure frequency. The efficacy of the KD after 3 months of dietary therapy was superior in patients with detectable mTOR pathway mutations than in patients without detectable mTOR pathway mutations, although the difference was not statistically significant (responder rates of 58.3% vs. 38.5%, p=0.434). @*Conclusions@#A greater proportion of patients with mTOR pathway responded to the KD, but there was no statistically significant difference in efficacy of the KD between patients with and without detectable mTOR pathway mutations. Further study is warranted due to the smallness of the sample and the limited number of mTOR pathway genes tested in this study.
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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.
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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.
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Purpose@#The purpose of this study was to evaluate whether shear wave elastography (SWE) and the shear wave dispersion slope (SWD) obtained from 2-dimensional shear wave imaging (2D-SWI) of the gallbladder (GB) bed of the liver could be helpful in the diagnosis of acute cholecystitis. @*Methods@#We included 44 patients referred for abdominal ultrasonography (US) under the impression of acute cholecystitis from April 2018 to March 2019. Patients with chronic liver disease were excluded from this study. In addition to routine upper abdominal US, we performed 2D-SWI including liver stiffness measurements by SWE and SWD, which reflects tissue viscosity. 2D-SWI was performed at the GB bed of the liver through the right intercostal approach at least 3 times with different frames. We assessed typical US findings and the added value of 2D-SWI in diagnosing acute cholecystitis. Histopathologic results of surgical specimens were used as the standard of reference. If a surgical specimen was unavailable, a bile fluid test or clinical followup for more than 3 months served as the reference standard. @*Results@#The optimal cutoff values for SWE and SWD were 8 kPa and 10.9 (m/sec)/kHz, respectively. In the univariate analysis, SWE, GB distension, and sludge were predictive factors of acute cholecystitis. In the multivariate analysis, categorized SWE was the only significant predictor (P<0.01). By using 2D-SWI, the diagnostic performance of two readers did not significantly increase, although the inter-reader agreement improved (k=0.654-0.778). @*Conclusion@#2D-SWI of the GB bed of the liver could be helpful for diagnosing acute cholecystitis.
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In this case report, we present the radiologic and pathologic findings of atypical ductal hyperplasia (ADH) in the male breast. It is well known that a high-risk lesion such as ADH is a precursor of breast cancer in females. However, the clinical significance of these lesions in the male breast is still uncertain because male breasts mainly consist of ducts without lobule formation, unlike the female breast. To our knowledge, imaging findings of ADH in the male breast have not been reported previously, except for a few studies on the pathologic findings of these lesions. Through this paper, we would like to present the possible imaging features of this high-risk lesion in the male breast and review the related literature.
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Patients with neurological disorders are at high risk of developing osteoporosis, as they possess multiple risk factors leading to low bone mineral density. Such factors include inactivity, decreased exposure to sunlight, poor nutrition, and the use of medication or treatment that can cause lower bone mineral density such as antiepileptic drugs, ketogenic diet, and glucocorticoids. In this article, mechanisms involved in altered bone health in children with neurological disorders and management for patients with epilepsy, cerebral palsy, and Duchenne muscular dystrophy regarding bone health are reviewed.
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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.
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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.
Subject(s)
Female , Humans , Appetite , Appointments and Schedules , Dizziness , Drug Resistant Epilepsy , Epilepsy , Gait , Seizures , Sex CharacteristicsABSTRACT
Globoid cell leukodystrophy is a rare autosomal recessive disorder of the brain white-matter caused by galactosylceramidase deficiency; the disorder is classified into four types based on the age of onset. Approximately 80–85% of patients have an early infantile form, while 10–15% has a late infantile form. Globoid cell leukodystrophy leads to a progressive neurological deterioration, and affected patients rarely survive more than 2–3 years. Although many different treatments have been investigated over several decades, further research is still needed. Hematopoietic stem cell transplantation is the standard treatment for globoid cell leukodystrophy. Here, we report a case of symptomatic late-infantile globoid cell leukodystrophy treated with stem cell transplantation. After transplantation, disease progression ceased and cognitive and motor function improved. And a 6 months follow-up study using brain magnetic resonance imaging showed white matter involvement was increased. After that, annual follow-up brain magnetic resonance imaging showed a stable status of disease.
Subject(s)
Humans , Age of Onset , Brain , Disease Progression , Follow-Up Studies , Galactosylceramidase , Hematopoietic Stem Cell Transplantation , Hematopoietic Stem Cells , Leukodystrophy, Globoid Cell , Magnetic Resonance Imaging , Stem Cell Transplantation , White MatterABSTRACT
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.
Subject(s)
Humans , Male , Amino Acid Transport System X-AG , Atrophy , Brain , Cerebellar Ataxia , Cerebellum , Efferent Pathways , Exome , Glutamic Acid , Magnetic Resonance Imaging , Neurodegenerative Diseases , Purkinje Cells , Spectrin , Spinocerebellar AtaxiasABSTRACT
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.
Subject(s)
Humans , Brain Diseases , Epilepsy , Mutation, Missense , Potassium , Quinidine , SeizuresABSTRACT
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.