• Journal of Genetic Medicine
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• 제11권2호
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• pp.86-90
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• 2014

Smith-Lemli-Opitz syndrome (SLOS) is a rare autosomal recessive disorder caused by 7-dehydrocholesterol reductase deficiency. The characteristic clinical features are syndactyly of the second and third toes, facial dysmorphism, multiple malformations, and intellectual disability. Few cases of SLOS have been reported in Korea. We observed a male patient with SLOS who presented with typical facial features, undescended testes, microcephaly, bilateral syndactyly of the second and third toes, and cardiac defects, including patent ductus arteriosus and atrial septal defect. Mutation analysis of the DHCR7 gene identified compound heterozygous mutations of c.907G>A (p.Gly303Arg) and c.1055G>A (p.Arg352Gln). In a review of the literature, c.1054C>T (p.Arg352Trp) was the most common mutation reported in Far East Asian countries. This report describes the clinical features, biochemical data, molecular characteristics, and clinical outcome of a Korean patient with SLOS.

• Journal of Genetic Medicine
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• 제11권2호
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• pp.79-82
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• 2014

Mowat-Wilson syndrome is an extremely rare genetic disease that is characterized by intellectual disability, facial dysmorphism, Hirschsprung's disease, and other congenital anomalies. This disorder is caused by heterozygous mutations or deletions in the zinc finger E-box-binding homeobox-2 gene (ZEB2). Thus far, approximately 200 cases of Mowat-Wilson syndrome have been reported worldwide. In Korea, only one case with a 2q22 deletion, which also affects ZEB2, has been previously reported. Here, we describe a patient with Mowat-Wilson syndrome who presented with developmental delays, typical facial dysmorphism, and Hirschsprung's disease. Molecular analysis of ZEB2 identified a novel heterozygous mutation at c.190dup ($p.S64Kfs^*6$). To our knowledge, this is the second report of a Korean patient with Mowat-Wilson syndrome that has been confirmed genetically.

• Journal of Dental Anesthesia and Pain Medicine
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• 제16권3호
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• pp.193-197
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• 2016

Background: Some patients with special needs exhibit intellectual disability, including deficits in cognitive skills and decreased quality of life. The purpose of this study was to retrospectively compare changes in body composition and hemodynamics during general anesthesia in patients with and without special needs. Methods: The backgrounds of patients who underwent oral maxillofacial surgery under general anesthesia were recorded from medical records. Intracellular water (ICW), extracellular water (ECW), stroke volume variation (SVV), and heart rate (HR) were recorded for 3 h after the start of anesthesia. Categorical data were compared using an unpaired t-test, and a P-value of less than 0.05 was regarded as significant. Numerical data were compared using the Bonferroni correction, and a P-value of less than 0.0125 was regarded as significant. Results: A total of 21 patients were included in the study: 10 patients without special needs (non-S-group) and 11 patients with special needs (S-group). There were no significant differences in patients' backgrounds, except with regard to height (P = 0.03). In both groups, ICW and ECW were maintained, although they were lower in the S-group compared to the non-S-group. SVV was maintained in both groups, although it was higher in the S-group than the non-S-group. HR was significantly lower in the S-group 1 h after induction of anesthesia (P < 0.003). Conclusions: Changes in hemodynamics due to body fluid imbalance should be monitored during general anesthesia, especially for patients with special needs.

• Journal of Interdisciplinary Genomics
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• 제1권2호
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• pp.19-22
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• 2019

CATCH 22 syndrome is rare genetic disease that has various manifestations. Cervical vertebral anomaly, such as Klippel-Feil anomaly, is frequently observed in the patients with CATCH22 syndrome. We present the case of an 11-year-old female patient with CATCH22 syndrome and Klippel-Feil anomaly who had been treated torticollis using the customized soft neck collar. During the patient's first visit to our clinic, she presented with low ear set, skull deformity, intellectual disability, and tilting of the head to the left by approximately 25 degrees. Imaging studies revealed multisegmental fusion and C3 hemivertebrae of the cervical spine and left thoracic scoliosis at T4 with 50 degrees of Cobb's angle. We instructed passive stretching and applied the customized soft neck collar we invented. The ipsilateral aspect of the neck collar is designed to provide vertical support between the clavicle and mandibular angle and is adjustable in height. The Velcro was attached to the neck collar at the point of contact with the ipsilesional mandibular angle, which provides negative sensory feedback, inducing her to tilt neck to the contralesional side. We applied the neck collar for 2 hours a day. After 1 year of treatment, her neck inclination angle improved from 25 to 10 degrees. Providing negative sensory feedback using the customized soft neck collar can be one of the treatment options of postural management in patients with torticollis in cases of CATCH 22 syndrome combined with Klippel-Feil anomaly.

• 대한통합의학회지
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• 제9권2호
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• pp.131-140
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• 2021

Purpose : The purpose of this study was to systematically review the studies on the effects of social story intervention on the individuals with autism spectrum disorders(ASD) to provide the basis for evidence-based practice. Methods : In order to find out the studies on the effect of social story intervention on individuals with ASD, studies published from 2011 to December 2020 were searched on Google Academic Search. The keywords used were "autism spectrum disorder AND social story". A total of 16,900 studies were searched, and from these, 12 studies were selected based on the application of the selection and exclusion criteria. The included studies comprised of 10 single subject design studies and 2 randomized controlled trials design studies. The included studies were analyzed in accordance to population, intervention, outcome measures and results. Results : As a result of analysing the subjects of the included studies, we found out that pre-school children and adolescents were the most common groups of individuals diagnozsed with ASD. In addition to ASD, the diagnosis of the subjects included intellectual disability, Asperger, and Prader-willi. We found out that there were more interventions that were mixed with other interventions, than just the pure social story interventions. In particular, video modeling was found to be the most frequent intervention. This was followed by photo-based social stories. For outcome measure, autism social skills profile was found to be the most often used standardized assessment. For a non-standardized assessment, social desired behavior was found to be the most frequently evaluated behavior, followed by personal problem behavior. Of all the dependent variables, the dependent variable reported as "effective" was the most, followed by "some effective". Conclusion : This study is organized to help the individuals with ASD, families, researchers, and therapists understand the effects of social story intervention on the individuals with ASD in an easy fashion. Further, therapists can use this study as the basic data for evidence-based practice.

• 대한한방소아과학회지
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• 제36권1호
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• pp.38-56
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• 2022

Objectives The purpose of this study was to analyze the trend of recent randomized controlled trials (RCTs) that used herbal medicine for the treatment of tic disorders in China and to evaluate the efficacy and safety of the treatment. Methods RCTs published from January 2017 to December 2021 were searched for using the China National Knowledge Infrastructure (CNKI). These were then analyzed using herbal medicine treatment methods and their results. Results A total of 35 randomized controlled trials were selected and analyzed. In most studies, evaluation indicators such as the Yale tic symptom scale and total effective rate were significantly improved in the herbal medicine treatment group compared to the control group. The most commonly used herb for tic disorder was Uncaria Rhynchophylla (釣鉤藤), followed by Glycyrrhizae Radix (甘草), Gastrodiae Rhizoma (天麻), Paeoniae Radix Alba (白芍藥), Batryticatus (白殭蠶), Poria (茯笭), and Bupleuri Radix (柴胡). In all studies that reported adverse events, herbal medicine was identified as a relatively safe treatment with fewer adverse reactions or no significant difference compared with the control group. Conclusions Based on the results of RCTs, herbal medicine has been shown to be safe and effective for the treatment of intellectual disability. However, additional well-designed large-scale clinical trials are needed to confirm these findings.

• Journal of Genetic Medicine
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• 제18권2호
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• pp.127-131
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• 2021

Autosomal recessive spinocerebellar ataxia 20 (SCAR20; OMIM #616354) is a recently described disorder that is characterized by ataxia, intellectual disability, cerebellar atrophy, macrocephaly, coarse face, and absent speech. It is caused by loss-of-function mutations in SNX14. To date, all cases with homozygous pathogenic variants have been identified in consanguineous families. This report describes the first Korean cases of SCAR20 family caused by homozygous variants in SNX14. Two siblings were referred to our clinic because of severe global developmental delay. They presented similar facial features, including a high forehead, long philtrum, thick lips, telecanthus, depressed nasal bridge, and broad base of the nose. Because the older sibling was unable to walk and newly developed ataxia, repeated brain magnetic resonance imaging (MRI) was performed at the age of 4 years, revealing progressive cerebellar atrophy compared with MRI performed at the age of 2 years. The younger sibling's MRI revealed a normal cerebellum at the age of 2 years. Whole-exome sequencing was performed, and homozygous variants, such as c.2746-2A>G, were identified in SNX14 from the older sibling. Sanger sequencing confirmed homozygous SNX14 variants in the two siblings as well as a heterozygous variant in both parents. This report extends our knowledge of the phenotypic and mutational spectrum of SCAR20. We also highlight the importance of deep phenotyping for the diagnosis of SCAR20 in individuals with developmental delay, ataxia, cerebellar atrophy, and distinct facial features.

• Journal of Genetic Medicine
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• 제18권1호
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• pp.48-54
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• 2021

Genetic imbalances are a major cause of congenital and developmental abnormalities. We report the first case of a 3p26 microdeletion and 5q35.2q35.3 microduplication in a newborn with multiple congenital anomalies evaluated using chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH). The patient was born at 30 weeks and 2 days of gestation with a body weight of 890 g. He had symmetric intrauterine growth restriction, microcephaly, facial dysmorphism (hypertelorism, blepharophimosis, mild low-set ears, high-arched palate, and micrognathia), and right thumb polydactyly. Echocardiography revealed an atrial septal defect and patent ductus arteriosus. Furthermore, CMA revealed a concurrent microdeletion in 3p26 and a microduplication in 5q35.2q35.3. FISH analysis showed that these genetic changes resulted from a translocation mutation between chromosomes 3 and 5. The patient's mother had mild intellectual disability, short stature, and facial dysmorphism, while his father had a normal phenotype. However, parental FISH analysis revealed that the asymptomatic father carried a balanced translocation of chromosomes 3p26 and 5q35. CMA and FISH tests are useful for diagnosing neonates with multiple congenital abnormalities. Further parental genetic investigation and proper genetic counseling are necessary in cases of chromosomal abnormalities inherited from parental balanced translocations.

• Journal of Dental Anesthesia and Pain Medicine
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• 제22권3호
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• pp.187-195
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• 2022

Background: This retrospective study investigated the incidence rate of accidental foreign body aspiration and ingestion according to patient sex, age, and dental department. This study aimed to verify whether the incidence rate is higher in geriatric than in younger patients and whether it is different among dental departments. Methods: Accidental foreign body aspiration and ingestion cases were collected from electronic health records and the safety report system of Yonsei University Dental Hospital from January 2011 to December 2017. The collected data included patients' age, sex, medical conditions, treatment procedures, and foreign objects that were accidentally aspirated or ingested. The incidence rate was calculated as the number of accidental foreign body aspirations and ingestions relative to the total number of patient visits. Differences depending on the patients' sex, age, and dental department were statistically identified. Results: There were 2 aspiration and 37 ingestion cases during the 7-year analysis period. The male to female incidence ratio was 2.8:1. The incidence rate increased with age and increased rapidly among those aged 80 years or older. Seven of the 37 patients with accidental foreign body ingestion had intellectual disability, Lou Gehrig's disease, dystonia, or oral and maxillofacial cancer. The incidence rate was highest in the Predoctoral Student Clinic and the Department of Prosthodontics. The most frequently swallowed objects were fixed dental prostheses and dental implant components. Conclusion: The incidence rate of accidental foreign body aspiration and ingestion differed according to patient sex, age, and dental department. Dental practitioners must identify high-risk patients and apply various methods to prevent accidental foreign body aspiration and ingestion in dental clinics. Inexperienced practitioners should be particularly careful.

• 대한감각통합치료학회지
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• 제16권1호
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• pp.45-55
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• 2018

목적 : 본 연구는 성인을 대상으로 한 감각통합 중재를 체계적으로 분석함으로써 감각 통합 중재를 성인에게 적용할 수 있음을 알리고 그 근거를 제공하는 것을 목적으로 한다. 연구방법 : 전자 데이터베이스인 Pubmed, Scopus, SAGE Journal, Medline, RISS 데이터베이스를 사용하여 1980년부터 2017년까지의 논문을 검색하였다. 주요 검색어는"(sensory integration OR sensory processing OR sensory integrative OR sensory based OR sensory defensiveness) AND adult" 를 사용하였다. 최종적으로 8편의 논문을 본 연구의 분석대상으로 선정하였다. 선정된 논문은 Patient, Intervention, Comparison, Outcome(PICO) 형식을 사용하여 연구대상자, 중재 방법, 종속변인, 결과를 정리하였다. 결과 : 연구 대상자 유형에는 학습장애, 지적장애, 감각처리에 어려움이 있는 성인, 치매가 있었다. 종속변인에 따른 평가도구와 중재방법은 진단의 특성과 연구자의 연구 의도에 따라 다양하였으며, 중재결과는 대부분의 연구에서 효과적인 것으로 나타났다. 결론 : 본 연구를 통하여 감각통합중재가 성인에게 적용될 수 있음과 그 효과를 확인할 수 있었다. 이는 작업치료사에게 임상적 근거를 제공하고자 하였으며, 추후에는 본 연구결과를 바탕으로 성인을 대상으로 감각통합중재를 적용하는 방법에 대한 근거 마련을 위한 연구가 진행되어야 할 것이다.