Purpose: The chromodomain helicase DNA-binding (CHD) protein family comprises adenosine triphosphate-dependent chromatin remodelers that regulate chromatin structure and gene expression. Pathogenic CHD2 variants are associated with neurodevelopmental phenotypes, but these genotype–phenotype correlations remain unclear. This study aimed to delineate the clinical and genetic features of patients with CHD2-related disorders and to explore the associated genotype–phenotype relationships. Methods: Among 22 patients with pathogenic or likely pathogenic CHD2 variants identified using a customized 172-gene neurodevelopmental and epilepsy panel, 19 with sufficient clinical data were included. Demographic, clinical, neuroimaging, electroencephalographic, and genetic data were retrospectively reviewed. Results: Eighteen pathogenic or likely pathogenic variants were identified, including eight novel variants: nine nonsense (50.0%), five splice-site (27.8%), two missense (11.1%), and two exon deletions (11.1%). All patients had epilepsy, with a median age of seizure onset of 2.33 years. Comorbidities included global developmental delay (89.5%), intellectual disability (82.0%), and neuropsychiatric symptoms (47.4%). Seizure types were heterogeneous, with a predominance of generalized-onset seizures, and 13 patients (68.4%) achieved seizure freedom. Marked phenotypic variability was observed: two unrelated patients with the same truncating variant had different developmental and seizure-related profiles, a symptomatic child with an inherited exon 5 deletion contrasted with her asymptomatic father, and a patient with an exon 17–29 deletion exhibited relatively mild features. Conclusion Epilepsy was a consistent manifestation in this study and was accompanied by diverse developmental and neurobehavioral features, with substantial genotype–phenotype discordance. Further research on genotype–phenotype correlation is warranted.

Dysphagia is a critical clinical condition requiring rehabilitation to prevent complications, including malnutrition and aspiration pneumonia. Telerehabilitation allows patients to receive appropriate rehabilitation at home, regardless of location and time, and reducing costs, presenting a viable alternative to traditional face-to-face intervention.This paper reviews current evidence on telerehabilitation for dysphagia management, focusing on the paradigm shift from evaluation to therapeutic intervention. The review showed that telerehabilitation research has focused mainly on establishing the validity and reliability of remote swallowing evaluations, while studies on therapeutic interventions remain insufficient. Nevertheless, emerging evidence suggests that telerehabilitation can effectively improve swallowing function through therapeutic interventions. Future research should prioritize high-quality randomized controlled trials, compliance-enhancing strategies, standardized telerehabilitation protocols, cost-effectiveness analyses, and specialized training programs for therapists.

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.

Background: and Purpose Neonatal encephalopathy (NE) is a neurological syndrome that presents with severe neurological impairments and complications. Hypoxic-ischemic encephalopathy is a major contributor to poor outcomes, being responsible for 50%–80% of admissions to neonatal intensive care units. However, some cases of NE accompanied by hypoxic brain damage cannot be solely attributed to hypoxia-ischemia. We aimed to identify diverse pathogenic genetic variations that may be associated with cases of NE accompanied by hypoxic brain damage rather than hypoxia-ischemia. Methods: We collected data from 34 patients diagnosed with NE accompanied by hypoxic brain damage over a 10-year period. Patients with the following specific conditions were excluded: 1) premature birth (<32 weeks), 2) no history of hypoxic events, 3) related anomalies, 4) neonatal infections, 5) antenatal or perinatal obstetrical complications, 6) severe hypoxia due to other medical conditions, and 7) early death (within 1 week). A comprehensive review of clinical and radiological features was conducted. Results: A genetic diagnosis was made in 11 (32.4%) patients, with pathogenic variants being identified in the following 9 genes: CACNA1A (n=2), KCNQ2 (n=2), SCN2A (n=1), SCN8A (n=1), STXBP1 (n=1), NSD1 (n=1), PURA (n=1), ZBTB20 (n=1), and ENG (n=1). No specific treatment outcomes or clinical features other than preterm birth were associated with the results of the genetic analyses. Personalized treatments based on the results of genetic tests were attempted, such as the administration of sodium-channel blockers in patients with KCNQ2 or SCN8A variants and the implementation of a ketogenic diet in patients with STXBP1 or SCN2A mutations, which demonstrated some degree of effectiveness in these patients. Conclusions Genetic analyses may help in diagnosing the underlying etiology of NE and concurrent hypoxic brain damage, irrespective of the initial clinical features.Keywords targeted gene panel sequencing; neonatal encephalopathy;hypoxic brain damage; hypoxic-ischemic encephalopathy.

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.

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.

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.

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.

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.

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.