1.Aplastic Anemia, Mental Retardation, and Dwarfism Syndrome Associated with Aldh2 and Adh5 Mutations
Bomi LIM ; Anna CHO ; Jaehyun KIM ; Sang Mee HWANG ; Soo Yeon KIM ; Jong-Hee CHAE ; Hyoung Soo CHOI
Clinical Pediatric Hematology-Oncology 2024;31(2):52-55
Aplastic anemia, mental retardation, and dwarfism (AMeD) syndrome, also known as aldehyde degradation deficiency (ADD) syndrome, is an autosomal recessive disorder caused by mutations in the ALDH2 and ADH5 genes, leading to decreased activity of the aldehyde dehydrogenase 2 (ALDH2) and alcohol dehydrogenase 5 (ADH5) enzymes, subsequently triggering enhanced cellular levels of formaldehyde and diverse multisystem manifestations. Herein, we present the case of a 7-year-old girl with AMeD syndrome, characterized by pancytopenia, developmental delay, microcephaly, epilepsy, and myelodysplastic syndrome. Whole-exome sequencing revealed compound heterozygous variants (c.832G>C and c.678delA) in the ADH5 gene and a heterozygous pathogenic variant (c.1510G>A) in the ALDH2 gene. This case underscores the complexity of AMeD syndrome, emphasizing the importance of genetic testing to ensure diagnosis and aid in the development of potential targeted therapeutic approaches.
2.Aplastic Anemia, Mental Retardation, and Dwarfism Syndrome Associated with Aldh2 and Adh5 Mutations
Bomi LIM ; Anna CHO ; Jaehyun KIM ; Sang Mee HWANG ; Soo Yeon KIM ; Jong-Hee CHAE ; Hyoung Soo CHOI
Clinical Pediatric Hematology-Oncology 2024;31(2):52-55
Aplastic anemia, mental retardation, and dwarfism (AMeD) syndrome, also known as aldehyde degradation deficiency (ADD) syndrome, is an autosomal recessive disorder caused by mutations in the ALDH2 and ADH5 genes, leading to decreased activity of the aldehyde dehydrogenase 2 (ALDH2) and alcohol dehydrogenase 5 (ADH5) enzymes, subsequently triggering enhanced cellular levels of formaldehyde and diverse multisystem manifestations. Herein, we present the case of a 7-year-old girl with AMeD syndrome, characterized by pancytopenia, developmental delay, microcephaly, epilepsy, and myelodysplastic syndrome. Whole-exome sequencing revealed compound heterozygous variants (c.832G>C and c.678delA) in the ADH5 gene and a heterozygous pathogenic variant (c.1510G>A) in the ALDH2 gene. This case underscores the complexity of AMeD syndrome, emphasizing the importance of genetic testing to ensure diagnosis and aid in the development of potential targeted therapeutic approaches.
3.Aplastic Anemia, Mental Retardation, and Dwarfism Syndrome Associated with Aldh2 and Adh5 Mutations
Bomi LIM ; Anna CHO ; Jaehyun KIM ; Sang Mee HWANG ; Soo Yeon KIM ; Jong-Hee CHAE ; Hyoung Soo CHOI
Clinical Pediatric Hematology-Oncology 2024;31(2):52-55
Aplastic anemia, mental retardation, and dwarfism (AMeD) syndrome, also known as aldehyde degradation deficiency (ADD) syndrome, is an autosomal recessive disorder caused by mutations in the ALDH2 and ADH5 genes, leading to decreased activity of the aldehyde dehydrogenase 2 (ALDH2) and alcohol dehydrogenase 5 (ADH5) enzymes, subsequently triggering enhanced cellular levels of formaldehyde and diverse multisystem manifestations. Herein, we present the case of a 7-year-old girl with AMeD syndrome, characterized by pancytopenia, developmental delay, microcephaly, epilepsy, and myelodysplastic syndrome. Whole-exome sequencing revealed compound heterozygous variants (c.832G>C and c.678delA) in the ADH5 gene and a heterozygous pathogenic variant (c.1510G>A) in the ALDH2 gene. This case underscores the complexity of AMeD syndrome, emphasizing the importance of genetic testing to ensure diagnosis and aid in the development of potential targeted therapeutic approaches.
4.Aplastic Anemia, Mental Retardation, and Dwarfism Syndrome Associated with Aldh2 and Adh5 Mutations
Bomi LIM ; Anna CHO ; Jaehyun KIM ; Sang Mee HWANG ; Soo Yeon KIM ; Jong-Hee CHAE ; Hyoung Soo CHOI
Clinical Pediatric Hematology-Oncology 2024;31(2):52-55
Aplastic anemia, mental retardation, and dwarfism (AMeD) syndrome, also known as aldehyde degradation deficiency (ADD) syndrome, is an autosomal recessive disorder caused by mutations in the ALDH2 and ADH5 genes, leading to decreased activity of the aldehyde dehydrogenase 2 (ALDH2) and alcohol dehydrogenase 5 (ADH5) enzymes, subsequently triggering enhanced cellular levels of formaldehyde and diverse multisystem manifestations. Herein, we present the case of a 7-year-old girl with AMeD syndrome, characterized by pancytopenia, developmental delay, microcephaly, epilepsy, and myelodysplastic syndrome. Whole-exome sequencing revealed compound heterozygous variants (c.832G>C and c.678delA) in the ADH5 gene and a heterozygous pathogenic variant (c.1510G>A) in the ALDH2 gene. This case underscores the complexity of AMeD syndrome, emphasizing the importance of genetic testing to ensure diagnosis and aid in the development of potential targeted therapeutic approaches.
5.Transradial Versus Transfemoral Access for Bifurcation Percutaneous Coronary Intervention Using SecondGeneration Drug-Eluting Stent
Jung-Hee LEE ; Young Jin YOUN ; Ho Sung JEON ; Jun-Won LEE ; Sung Gyun AHN ; Junghan YOON ; Hyeon-Cheol GWON ; Young Bin SONG ; Ki Hong CHOI ; Hyo-Soo KIM ; Woo Jung CHUN ; Seung-Ho HUR ; Chang-Wook NAM ; Yun-Kyeong CHO ; Seung Hwan HAN ; Seung-Woon RHA ; In-Ho CHAE ; Jin-Ok JEONG ; Jung Ho HEO ; Do-Sun LIM ; Jong-Seon PARK ; Myeong-Ki HONG ; Joon-Hyung DOH ; Kwang Soo CHA ; Doo-Il KIM ; Sang Yeub LEE ; Kiyuk CHANG ; Byung-Hee HWANG ; So-Yeon CHOI ; Myung Ho JEONG ; Hyun-Jong LEE
Journal of Korean Medical Science 2024;39(10):e111-
Background:
The benefits of transradial access (TRA) over transfemoral access (TFA) for bifurcation percutaneous coronary intervention (PCI) are uncertain because of the limited availability of device selection. This study aimed to compare the procedural differences and the in-hospital and long-term outcomes of TRA and TFA for bifurcation PCI using secondgeneration drug-eluting stents (DESs).
Methods:
Based on data from the Coronary Bifurcation Stenting Registry III, a retrospective registry of 2,648 patients undergoing bifurcation PCI with second-generation DES from 21 centers in South Korea, patients were categorized into the TRA group (n = 1,507) or the TFA group (n = 1,141). After propensity score matching (PSM), procedural differences, in-hospital outcomes, and device-oriented composite outcomes (DOCOs; a composite of cardiac death, target vessel-related myocardial infarction, and target lesion revascularization) were compared between the two groups (772 matched patients each group).
Results:
Despite well-balanced baseline clinical and lesion characteristics after PSM, the use of the two-stent strategy (14.2% vs. 23.7%, P = 0.001) and the incidence of in-hospital adverse outcomes, primarily driven by access site complications (2.2% vs. 4.4%, P = 0.015), were significantly lower in the TRA group than in the TFA group. At the 5-year follow-up, the incidence of DOCOs was similar between the groups (6.3% vs. 7.1%, P = 0.639).
Conclusion
The findings suggested that TRA may be safer than TFA for bifurcation PCI using second-generation DESs. Despite differences in treatment strategy, TRA was associated with similar long-term clinical outcomes as those of TFA. Therefore, TRA might be the preferred access for bifurcation PCI using second-generation DES.
6.Incidence of and Influencing Factors for Arm Lymphedema After Salvage Treatment for an Isolated Locoregional Recurrence of Breast Cancer
Nalee KIM ; Haeyoung KIM ; Ji Hye HWANG ; Jeong Eon LEE ; Won PARK ; Won Kyung CHO ; Seok Jin NAM ; Seok Won KIM ; Jonghan YU ; Byung Joo CHAE ; Se Kyung LEE ; Jai Min RYU ; Young-Hyuck IM ; Jin Seok AHN ; Yeon Hee PARK ; Ji-Yeon KIM ; Tae-Gyu KIM
Journal of Breast Cancer 2023;26(6):544-557
Purpose:
Data on subsequent arm lymphedema (SAL) after salvage treatment for locoregional recurrence (LRR) of breast cancer are limited. We conducted a study to evaluate the risk of SAL in patients with LRR.
Methods:
We reviewed the data of patients with breast cancer who had LRR and were initially diagnosed between January 2003 and December 2017. Among the 214 patients who received curative salvage treatment, most had local (n = 125, 57.9%), followed by regional (n = 73, 34.1%), and locoregional (n = 16, 7.9%) recurrences. A competing risk analysis considering the factors of death and a second LRR were performed to exclude potential malignant lymphedema. We used the Fine-Gray subdistribution hazards model to estimate the hazard ratio (HR) for comparing the risk of SAL.
Results:
With a median follow-up duration of 41.4 months (interquartile range, 25.6–65.1), 51 patients (23.8%) experienced SAL with a median interval of 9.9 months after treatment.The two-year cumulative incidence of SAL was 12.7%. Among the 18 patients with initial lymphedema, nine (50.0%) developed SAL. Multivariate analysis revealed that a history of lymphedema (HR, 4.61; p < 0.001) and taxane-based salvage chemotherapy (HR, 2.38; p = 0.009) were significantly associated with SAL development.
Conclusion
Salvage treatment for LRR-induced SAL was performed in 24% of the patients.A history of initial lymphedema and salvage taxane-based chemotherapy increases the risk of developing SAL. Therefore, close surveillance for the incidence of SAL is required in patients opting for salvage treatment for LRR.
7.Effect of Toothbrushing Application for Kids on Dental Plaque Removal and Interest in Toothbrushing of Preschool Children
Chae-Ha HWANG ; Hyeon-Ju SONG ; Min-Ji JUNG ; Yeon-Jae CHOI ; Young Sun HWANG
Journal of Dental Hygiene Science 2023;23(3):208-215
Background:
Dental caries in preschool children can cause early loss of teeth, reduced masticatory function, malocclusion, and speech disorders, making oral care for preschool children essential. However, because children have a poor ability to perform oral hygiene by themselves, educational tools that help establish correct oral health behaviors are required. This study evaluated the effect of toothbrushing application for kids on dental plaque removal and toothbrushing interest in preschool children.
Methods:
Seven 5-year-old children enrolled in a daycare center participated in the evaluation, and the same children participated in the experiment twice a week. The Pokémon Smile application (App) was used as an auxiliary application for tooth brushing, and the degree of dental plaque removal on the tooth surface was evaluated by quantitative light-induced fluorescence-digital imaging. After the experiment, children’s toothbrushing preferences were investigated through interviews.
Results:
The levels of AREA R30 and AREA R70 measured after the children’s toothbrushing as usual decreased compared to those before toothbrushing; however, the change was not significant. The levels of AREA R30 and AREA R70 measured after using the Pokémon Smile App were significantly reduced compared to those before toothbrushing. Children’s interest in brushing their teeth increased by 28.59% after using the Pokémon Smile App.
Conclusion
The toothbrushing application for kids effectively removes dental plaque by helping preschool children brush their teeth. It also increased preschool children’s interest in tooth brushing. Therefore, an oral health education application would be useful for children who need to develop correct oral care methods and habits.
8.Maternal Experiences of Anger While Raising a Child
Ji-Hye HWANG ; Soo-Yeon HAN ; Sun-Mi CHAE ; Mi-Ra KIM
Journal of the Korean Society of Maternal and Child Health 2023;27(4):247-255
Purpose:
This study aims to explore mothers’ experiences of anger while raising a child in South Korea based on a qualitative descriptive approach.
Methods:
A total of ten mothers of children aged 1-3 years participated in the study. In-depth individual interviews were conducted from August to September 2019 to collect data, which were then subjected to thematic analysis.
Results:
A total of 4 main themes and 10 subthemes were identified. The 4 themes were “individual and environmental factors that influence anger,” “a vicious cycle of anger expression and guilt,” “being a little bit more mature as a mother,” and “need for anger management.” This study described various causes, ways of expressing, and effects of anger, as well as the mother’s coping strategies. These experiences were viewed as milestones along the journey to becoming a real parent and helped mothers develop empathy for other children and mothers. The participants expressed support for expanding the social support system for child-rearing and providing psychological programs for mothers.
Conclusion
Mothers of children aged 1-3 years experienced anger owing to various factors, but adapted by developing coping skills. This study recommends family-based support interventions to help mothers manage their emotions and parenting roles.
9.Comparison of Meibomian Gland Loss between Demodex-infested Group and Dry Eye Patients without Demodex Infestation
Young Chae YOON ; Soo Yeon CHO ; Sun Kyoung PARK ; Young Sik YOO ; Woong Joo WHANG ; Kyung Sun NA ; Eun Chul KIM ; Hyun Seung KIM ; Ho Sik HWANG
Journal of the Korean Ophthalmological Society 2022;63(1):1-9
Purpose:
To compare the degree of meibomian gland drop-out associated with Demodex infestation using non-contact meibography.
Methods:
We performed noncontact meibography using an infrared digital camera on 24 adult subjects infested by Demodex and 40 without infestation. The right upper and lower lids were scored based on the loss of meibomian glands, and the scores of the upper and lower eyelids were summed to obtain the total meiboscore for each subject. Meiboscores were evaluated according to Demodex infestation and gender in each group.
Results:
Sixty-four eyes of 64 people were enrolled in this study. The study subjects had an average age of 67.9 years (range, 40-79 years; men, 65.2 years; women, 69.1 years). There was a significant association between Demodex infestation and total meiboscore and upper and lower eyelid meiboscores (p = 0.000, p = 0.002, p = 0.004, respectively). There was no significant difference in the meiboscores between men and women. Age and meiboscore suggested a weak positive correlation; however, the R2 value was low, due to the concentrated age distribution of the study population.
Conclusions
Based on noncontact meibography, the authors concluded that the prevalence of changes in the meibomian glands was significantly related to Demodex infestation; however, there was no significant difference between men and women.
10.Short Communication: Links between Dental Hygiene Curriculum and Dental Hygiene Task Analysis
Chae-Eun PARK ; Jin-Gyeong YOO ; Su-Hyun LEE ; Yoon-Ha LEE ; Ji-Yeon LEE ; Mun-Jeong CHOI ; Soo-Jeong HWANG
Journal of Dental Hygiene Science 2022;22(2):126-129
Background:
The problem with current dental hygienist education is that it operates as an education system based on the national examination rather than on a practical basis; thus, graduates have difficulties in practice after obtaining their license. This study aimed to propose a job-oriented curriculum by analyzing the links between the task analysis of Korean dental hygienists and dental hygiene learning goals.
Methods:
This study performed a relationship analysis based on a second job analysis study of dental hygienists conducted by the Korea Health Personnel Licensing Examination Institute and the learning goals of the Korean Dental Hygiene Faculty Association.
Results:
Based on the links between the task and learning goals of the dental hygienist, they were classified into six types: 1) tasks listed in the license exam and learning goal, 2) tasks not listed in the license exam but listed in learning goals, 3) tasks not listed in learning goals, 4) learning goals not related to tasks, 5) learning goals listed in a few tasks, and 6) tasks related to several learning goals. The results showed that most of them correspond to the 5th classification, followed by the 3rd and 4th categories, which are mostly basic science learning goals. Tasks without learning goals are not included in the curriculum; thus, the curriculum needs to be supplemented. The overlapping learning goals of several subjects for one job skill must be reduced in job-oriented education.
Conclusion
We suggest that the dental hygiene curriculum be developed based on task analysis and reflected in the national dental hygienist exam. The clinical practice performance of dental hygienists will take further leap forward through task-oriented education.

Result Analysis
Print
Save
E-mail