1.Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD) Associated with a De Novo Missense Variant in NALCN: The First Korean Case Report
Yoon Hee JO ; Yoo Jung LEE ; Juhyun KONG ; Yun-Jin LEE ; Sang Ook NAM ; Young Mi KIM
Annals of Child Neurology 2025;33(1):34-37
		                        		
		                        		
		                        		
		                        	
2.Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD) Associated with a De Novo Missense Variant in NALCN: The First Korean Case Report
Yoon Hee JO ; Yoo Jung LEE ; Juhyun KONG ; Yun-Jin LEE ; Sang Ook NAM ; Young Mi KIM
Annals of Child Neurology 2025;33(1):34-37
		                        		
		                        		
		                        		
		                        	
3.Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD) Associated with a De Novo Missense Variant in NALCN: The First Korean Case Report
Yoon Hee JO ; Yoo Jung LEE ; Juhyun KONG ; Yun-Jin LEE ; Sang Ook NAM ; Young Mi KIM
Annals of Child Neurology 2025;33(1):34-37
		                        		
		                        		
		                        		
		                        	
4.Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD) Associated with a De Novo Missense Variant in NALCN: The First Korean Case Report
Yoon Hee JO ; Yoo Jung LEE ; Juhyun KONG ; Yun-Jin LEE ; Sang Ook NAM ; Young Mi KIM
Annals of Child Neurology 2025;33(1):34-37
		                        		
		                        		
		                        		
		                        	
5.Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD) Associated with a De Novo Missense Variant in NALCN: The First Korean Case Report
Yoon Hee JO ; Yoo Jung LEE ; Juhyun KONG ; Yun-Jin LEE ; Sang Ook NAM ; Young Mi KIM
Annals of Child Neurology 2025;33(1):34-37
		                        		
		                        		
		                        		
		                        	
6.Clinical Analysis and Red Flag Signs in Pediatric Headache According to Age
Yoon Hee JO ; Yoo Jung LEE ; Donghyun SHIN ; Soo Young LYU ; Juhyun KONG ; Yun-Jin LEE ; Sang Ook NAM ; Young Mi KIM
Annals of Child Neurology 2024;32(2):122-129
		                        		
		                        			 Purpose:
		                        			The clinical characteristics of headaches vary by age among pediatric patients. Red flag signs are key factors in differentiating secondary headaches and should be considered in the context of the patient’s age. 
		                        		
		                        			Methods:
		                        			This study involved a retrospective chart review of pediatric patients presenting with headaches. Patients were categorized by age into three groups: pre-school age (under 6 years), school-age (6 to 12 years), and adolescence (over 12 years). Demographic data, headache characteristics, laboratory findings, and neuroimaging results were evaluated. Overall, 17 potential red flags were assessed. 
		                        		
		                        			Results:
		                        			A total of 687 patients were included, of whom 102 were of pre-school age, 314 were school-aged, and 271 were adolescents. The frequency of overweight/obesity was found to increase with age. The pre-school age group experienced a shorter period from symptom onset to presentation and a briefer duration of pain. In contrast, adolescents displayed a longer period from symptom onset, a greater frequency of headaches occurring at least three times per week, and a higher rate of headache episodes lasting over 3 days. Children under 6 years old were more commonly diagnosed with secondary headaches than older children. Across age groups, secondary headaches were suspected when systemic symptoms such as fever were present, when the headache had a sudden onset, when the patient responded poorly to medication, or when abnormal neurological signs and symptoms were observed. 
		                        		
		                        			Conclusion
		                        			The clinical features of pediatric patients vary by age group. Clinicians should consider red flag signs in the context of patient age and individual characteristics.  
		                        		
		                        		
		                        		
		                        	
7.Thrombocytopenia after Aortic Valve Replacement Using Sutureless Valves
Mil Hoo KIM ; Soojin LEE ; Juhyun LEE ; Seohee JOO ; You Kyeong PARK ; Kang Min KIM ; Joon Chul JUNG ; Hyoung Woo CHANG ; Jae Hang LEE ; Dong Jung KIM ; Jun Sung KIM ; Kay-Hyun PARK ; Cheong LIM
Journal of Chest Surgery 2024;57(4):371-379
		                        		
		                        			 Background:
		                        			Sutureless valves are widely used in aortic valve replacement surgery, with Perceval valves and Intuity valves being particularly prominent. However, concerns have been raised about postoperative thrombocytopenia with Perceval valves (Corcym, UK). We conducted a comparative analysis with the Intuity valve (Edwards Lifesciences, USA), and assessed how thrombocytopenia affected patient and transfusion outcomes. 
		                        		
		                        			Methods:
		                        			Among 595 patients who underwent aortic valve replacement from June 2016 to March 2023, sutureless valves were used in 53 (Perceval: n=23; Intuity: n=30). Platelet counts were monitored during hospitalization and outpatient visits. Daily platelet count changes were compared between groups, and the results from patients who underwent procedures using Carpentier Edwards Perimount Magna valves were used as a reference group. 
		                        		
		                        			Results:
		                        			Compared to the Intuity group, the Perceval group showed a significantly higher amount of platelet transfusion (5.48±1.64 packs vs. 0.60±0.44 packs, p=0.008). During the postoperative period, severe thrombocytopenia (<50,000/μL) was significantly more prevalent in the Perceval group (56.5%, n=13) than in the Intuity group (6.7%, n=2). After initial postoperative depletion, daily platelet counts increased, with significant differences observed in the extent of improvement between the Perceval and Intuity groups (p<0.001).However, there was no significant difference in early mortality or the incidence of neurological complications between the 2 groups. 
		                        		
		                        			Conclusion
		                        			The severity of postoperative thrombocytopenia differed significantly between the Perceval and Intuity valves. The Perceval group showed a significantly higher prevalence of severe thrombocytopenia and higher platelet transfusion volumes. However, thrombocytopenia gradually recovered during the postoperative period in both groups, and the early outcomes were similar in both groups. 
		                        		
		                        		
		                        		
		                        	
8.A Case of Arteriovenous Malformation in the External Auditory Canal
Soo Jeong CHOI ; Juhyun LEE ; You-Na SUNG ; Gi Jung IM
Korean Journal of Otolaryngology - Head and Neck Surgery 2024;67(7):401-405
		                        		
		                        			
		                        			 Benign vascular tumors are relatively common in the head and neck region, but are rarely found in the ear. Among vascular tumors, infantile hemangioma stands as the prevailing entity, characterized by a rapid initial proliferation of endothelial cells, succeeded by a gradual regression over the course of several years. In contrast, arteriovenous malformation (AVM) is a less common phenomenon, originating from peripheral vascular anomalies during embryogenesis, and it does not undergo spontaneous regression. Specifically, the occurrence of AVM within the external auditory canal are exceedingly uncommon. Here, we describe a case of a 49-year-old male patient who had a mass incidentally discovered in the external auditory canal, but refused initial treatment. He later returned as the mass enlarged. This case could have been clinically misdiagnosed as a hemangioma, but was ultimately diagnosed pathologically as an AVM. 
		                        		
		                        		
		                        		
		                        	
9.Clinical Significance of Human Papillomavirus DNA Test and p16 Overexpression in Oropharyngeal Cancer
Juhyun LEE ; Kwang Yoon JUNG ; Soon-Young KWON ; Jeong-Soo WOO ; Jae-Gu CHO ; Kyoung-Ho OH ; Jaehyeong KIM ; Seung-Kuk BAEK
Korean Journal of Otolaryngology - Head and Neck Surgery 2024;67(6):336-343
		                        		
		                        			 Background and Objectives:
		                        			Oropharyngeal squamous cell carcinoma (OPSCC) can be caused by human papilloma virus (HPV) infection or other factors like smoking. The 8th Edition of the AJCC Cancer Staging Manual recommends different staging and treatment approaches based on etiology. Despite criticisms of its low specificity, the current guidelines suggest using p16 immunohistochemistry (IHC) as a surrogate marker for the HPV-related OPSCC. This study assessed the reliability of p16 as a surrogate marker by correlating the survival rates of OPSCC patients with the results of p16 IHC and HPV-DNA testing.Subjects and Method A retrospective analysis was performed on patients treated for tonsil squamous cell carcinoma at a tertiary medical institution between 1994 and 2018. All patients underwent p16 immunostaining and HPV-DNA chip tests. Out of 88 patients, 17 were excluded due to insufficient data or secondary primary cancer, leaving 71 patients. 
		                        		
		                        			Results:
		                        			Among the 71 patients, 51 were p16 positive and 49 were HPV-DNA positive; both tests were associated with extended survival. However, discrepancies were noted in 18 patients: specifically, 11 patients were p16 positive but HPV-DNA negative, displaying a different survival pattern compared to HPV-associated and non-HPV-associated patients. 
		                        		
		                        			Conclusion
		                        			Both p16 immunostaining and HPV-DNA testing have their pros and cons. p16 immunostaining is cost-effective but has lower specificity. The study found discrepancies in 18 patients, suggesting that relying solely on p16 immunostaining may have limitations. It would be advisable to complement it with additional tests like the HPV-DNA chip test to predict the disease’s prognosis more accurately. 
		                        		
		                        		
		                        		
		                        	
10.Dynamic Range and Neural Response Threshold in Cochlear Implant Mapping Can Be Useful in Predicting Prognosis Related to Postoperative Speech Perception
Bongil PARK ; Pyung Kon THAK ; Euyhyun PARK ; Soo Jeong CHOI ; Juhyun LEE ; Sooun KWAK ; Hak Hyun JUNG ; Gi Jung IM
Journal of Audiology & Otology 2023;27(4):212-218
		                        		
		                        			 Background and Objectives:
		                        			To analyze mapping changes in dynamic range (DR) and neural response threshold (NRT) as prognostic factors for cochlear implant (CI). To analyze whether postoperative speech perception performance could be predicted using DR change and initial NRT. 
		                        		
		                        			Subjects and Methods:
		                        			The speech comprehension data of 33 patients with CI were retrospectively analyzed after 1, 3, 6, and 12 months of device use. All subjects were adult, postlingually hearing-impaired, and Cochlear Nucleus CI users. Speech perception performance was evaluated using aided pure tone audiometry, consonant, vowel, one-word, two-word, and sentence tests. 
		                        		
		                        			Results:
		                        			The averages of initial NRT and DR changes were 197.8±25.9 CU (104–236) and 22.2±18.4 CU (-15–79), respectively. The initial DR was 40.8±16.6 CU. The postoperative DR was 50.3±16.4 CU at 3 months, 58±12.3 CU at 6 months, and 62.9±10.4 CU at 12 months. A gradual increase of DR was observed during the first year of CI. Compared with the initial DR, significant increases in DR were observed at 3 (p<0.05), 6 (p<0.001), and 12 (p<0.001) months. Compared with initial speech performance outcomes, a significant gain in all performance outcomes was achieved at 12 months (p<0.001). 
		                        		
		                        			Conclusions
		                        			Patients with low NRT after CI surgery could initially set DR to a wider range and had better final speech perception outcomes. Conversely, patients with high NRT after CI surgery had to set up a gradual increase in DR while adjusting the T-C level, and the final speech perception outcomes were worse. DR and NRT, the main CI mapping variables, can help predict prognosis related to speech perception outcomes after CI surgery. In conclusion, the post-CI speech perception is better with a lower initial NRT, wider final DR, or younger age. 
		                        		
		                        		
		                        		
		                        	
            
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