• Journal of Dental Anesthesia and Pain Medicine
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• 제22권2호
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• pp.155-159
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• 2022

Cohen syndrome is a rare genetic disorder associated with mutations in the VPS13B gene. Individuals with this disorder present with diverse clinical manifestations, including muscle hypotonia, intellectual disabilities, and typical facial characteristics, such as prominent upper central incisors and micrognathia. General anesthesia was administered to a 23-year-old man with Cohen syndrome. Although we observed prominent upper central incisors, an overjet of 10 mm, micrognathia, and thyromental distance of 4 cm, hypotonia was not observed in the patient. Intubation was rendered difficult when performing a direct laryngoscopy. However, smooth intubation was achieved using a video laryngoscope. The patient's train of four (TOF) count remained zero close to 60 min after rocuronium administration, suggesting that the drug's muscle-relaxant effect may have been prolonged. A TOF ratio of 0.79 was confirmed 130 min after rocuronium administration, and a TOF ratio of 1.0 was confirmed after administration of 150 mg of sugammadex. The patient's respiration remained stable after extubation, and no recurarization of muscle relaxation was observed. As demonstrated in this case report, it is important to closely monitor recovery from muscle relaxation and prepare multiple techniques for airway management in general anesthesia management of patients with Cohen syndrome.

• Journal of Genetic Medicine
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• 제18권1호
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• pp.70-74
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• 2021

Cohen-Gibson syndrome (CGS) was first reported by Cohen et al., who identified the mutation of the gene encoding the embryonic ectoderm development (EED) in a patient with phenotypes similar to Weaver syndrome. CGS manifests as an overgrowth and intellectual disability, in addition to the characteristic facial features and organ anomalies. CGS has been reported in only 11 unrelated patients since 2015. A girl aged 6 years and 3 months presented with seizures. She had macrosomia, a dysmorphic face, and intellectual disability. Her mother and younger sister and brother also had macrosomia, intellectual disability, and similar facial features; additionally, her mother experienced seizures and had an arachnoid cyst, while her siblings had valvar pulmonary stenosis. Whole-exome sequencing for the proband revealed a mutation of EED (c.581A>G, p.Asn194Ser), which was also verified in the mother and both siblings using Sanger sequencing. This is the first report of familial CGS.

• The Korean Journal of Pain
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• 제27권1호
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• pp.3-15
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• 2014

As our population ages and the rate of spine surgery continues to rise, the use epidural lysis of adhesions (LOA) has emerged as a popular treatment to treat spinal stenosis and failed back surgery syndrome. There is moderate evidence that percutaneous LOA is more effective than conventional ESI for both failed back surgery syndrome, spinal stenosis, and lumbar radiculopathy. For cervical HNP, cervical stenosis and mechanical pain not associated with nerve root involvement, the evidence is anecdotal. The benefits of LOA stem from a combination of factors to include the high volumes administered and the use of hypertonic saline. Hyaluronidase has been shown in most, but not all studies to improve treatment outcomes. Although infrequent, complications are more likely to occur after epidural LOA than after conventional epidural steroid injections.

• International Journal of Contents
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• 제11권4호
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• pp.31-37
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• 2015

The objectives of this study were: 1) to determine smartphone addiction, visual display terminal syndrome (VDTS) related symptoms, and state anxiety among adolescents, and 2) to identify the relationship among these variables. Data were collected via selfadministrated questionnaire survey from May to June, 2013. The survey was carried out with 540 voluntary participants at 13 to 24 years old from middle schools, high schools, and universities in Korea. The presence and severity of smartphone addiction, VDTS symptoms, and state anxiety were measured using Korean Smartphone Addiction Proneness Scale, VDTS Questionnaire, and State Anxiety Inventory, respectively. Data were analyzed by Cohen’s Kappa coefficient, Kruskal-Wallis test, and Mann-Whitney U test. The mean score of smartphone addiction for all students was 2.17 ± 0.51. The mean scores of smartphone addiction depending on school grade were 2.12 ± 0.53, 2.03 ± 0.48, and 2.42 ± 0.43 for middle school, high school, and college students, respectively. Subjects who experienced minor level of VDTS symptoms had a score of 0.49 ± 0.49 for VDTS symptoms. The score was increased when the level of addiction was higher. There were significant differences in VDTS subjective symptoms among smartphone addiction groups (p<.001). High-risk group of smartphone addiction had the highest scores in every subdomain of VDTS symptoms. Differences were also found in state anxiety among the three groups with smartphone addiction. The findings of this study showed that approximately one out of three adolescents might be classified into problematic smartphone users. Therefore, it is important to educate problematic smartphone users about smartphone addiction and VDTS symptoms to prevent further addiction and aggravation of anxiety.

• 한국전문물리치료학회지
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• 제21권3호
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• pp.73-79
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• 2014

The purposes of the current study were to (1) estimate the inter-rater agreement for visual assessment of scapular downward rotation (SDR), (2) develop the scapular downward rotation index (SDRI) as a method to measure SDR objectively and quantitatively, and (3) analyze the intra- and inter-rater reliability of the SDRI. Twenty subjects with scapular downward rotation syndrome (SDRS) were recruited for this study. The visual assessment and the measurement for the SDRI were conducted by two examiners in two sessions each. The SDRI [$(a-b){\div}a{\times}100$] is calculated with the measurement of two linear distances: One is a perpendicular distance from the root of the scapular spine to the thoracic mid-line (a), and the other is a perpendicular distance from the inferior angle of the scapula to the thoracic mid-line (b). Cohen's kappa coefficient was calculated to estimate the inter-rater agreement for visual assessment. Intra-class correlation coefficients (ICCs) with a 95% confidence interval (CI), the standard error of measurement, and minimal detectable differences were calculated to assess intra- and inter-rater reliability of SDR measurement using the SDRI. The results indicated that the kappa coefficient of inter-rater agreement for visual assessment was fair (${\kappa}=.21$). The intra-rater reliability of SDR measurement using the SDRI was excellent for examiner 1 (ICC=.92, 95% CI=.78~.97) and good for examiner 2 (ICC=.82, 95% CI=.55~.93). The inter-rater reliability was moderate (ICC=.73, 95% CI=.32~.89). These findings showed that SDR measurement using the SDRI for subjects with SDRS may be considered reliable and better than the visual assessment.

• Clinical and Experimental Pediatrics
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• 제46권10호
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• pp.1044-1046
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• 2003

저자들은 신생아에서 사두증, 좌측 전두부의 돌출, 우측 전두부의 후퇴, 양안 격리증, 넓은 비근과 비첨부의 분열, 경한 발가락의 기형과 뇌량 무형성증을 보인 craniofrontonasal dysplasia 1례를 경험하였기에 보고하는 바이다.

• 한국방사선학회논문지
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• 제18권2호
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• pp.73-81
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• 2024

본 연구는 기분 장애(mood disorder) 환자들과 정상 대조군간의 대뇌 피질 두께를 측정 하여 구조적 이상을 비교하였다. 2020년 9월부터 2022년 8월까지 경상남도 양산 P 병원 정신건강의학과에서 기분 장애 진단을 받은 44명과 이상 병변이 없는 정상인 59명을 대상으로 후향적 연구를 시행하였다. 자기공명영상(MRI) 검사 후 획득한 3D-T1 MPRAGE 영상을 이용하였고, FreeSurfer 소프트웨어를 사용하여 대뇌 피질 두께를 측정하였다. 통계분석은 독립표본 t-검정을 이용하여 두 그룹간 평균의 차이를 측정하고, cohen's d 검정을 통해 두 그룹간 평균 차이의 크기를 평가하였다. 또한, 측정된 평균 피질 두께와 환자의 양성·음성증상(Positive and Negative Syndrome Scale, PANSS)간의 상관관계를 분석하였다. 기분장애 환자는 정상대조군에 비해 양측 상전두이랑(both superior frontal), 주둥이 중전두이랑(both rostral middle frontal), 꼬리 중전두이랑(both caudal middle frontal), 하전두이랑 주름 세곳(both pars opercularis, pars orbitals, pars triangularis), 상측두이랑(both superior temporal), 하측두이랑(both inferior temporal), 외측안와전두피질(both lateral orbito frontal), 내측안와전두피질(both medial orbito frontal), 방추형이랑(both fusiform), 후대상피질(both posterior cingulate), 대상이랑의 협부(both isthmus cingulate), 상두정수리소엽(both superior parietal), 하두정엽(both inferior parietal), 변연상이랑(both supramarginal), 좌측 후중심이랑(left post central), 우측 상부측두고랑(right bank of the superior temporal sulcus), 중측두이랑(right middle temporal), 전대상피질(right rostral anterior cingulate), 뇌섬엽(right insula)의 두께가 유의미하게 감소하였다(p<0.05). 그 중 평균 차이의 크기(cohen's d)가 큰 영역은 좌측 fusiform (d=0.82), pars opercularis (d=0.94), superior frontal (d=0.88), 우측 lateral orbito frontal (d=0.85), pars orbitalis (d=0.89) 로 나타났다. 또한, PANSS와 양측 대뇌 피질의 평균 두께는 약한 음의 상관관계(left hemisphere r=-0.234, right hemisphere r=-0.230)를 나타내었다. 이러한 연구의 결과는 정상인과 비교하여 기분장애 환자의 피질 두께 감소영역을 확인하였고 질환의 증상 정도와 피질 두께 변화의 관련성을 확인하는 데 도움이 될 것으로 기대된다.

• Journal of Gastric Cancer
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• 제14권2호
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• pp.142-146
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• 2014

Pulmonary tumor thrombotic microangiopathy (PTTM) causing fatal pulmonary hypertension is a rare presentation of malignancy. In general, patients with PTTM rapidly succumb to death due to severe hypoxia. To date, very few cases of PTTM have been reported in the literature; and most of these cases were from gastric cancer and were diagnosed on post mortem autopsy, as it is extremely challenging to make an ante mortem diagnosis. We here report on a case of undiagnosed diffuse gastric cancer, presenting as worsening hypoxia. The clinical, radiographic, and echocardiographic features, and laboratory and pathological results were consistent with PTTM from gastric cancer. The patient was started on anticoagulation therapy, corticosteroids, and high-flow oxygen. However, her hypoxia worsened to the extent that she required ventilator support, and she died soon after intubation due to cardiac arrest. Since diffuse gastric cancer is associated with hereditary diffuse gastric cancer syndrome, cadherin 1 gene mutation analysis was performed to estimate the risk to her daughters. The test came back negative.

• The Korean Journal of Pain
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• 제30권4호
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• pp.250-257
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• 2017

Vitamin D is a cofactor responsible for autoimmune disorders. There is no agreement in the studies investigating the association between vitamin D and fibromyalgia. This study aims to combine the conflicting results of the primary studies which compared these patients with control groups regarding the serum concentration of vitamin D. This meta-analysis has been designed based on PRISMA guidelines. Relevant keywords were searched in PubMed, Science direct, Scopus, Cochrane, and Google scholar and primary studies were selected. After screening the eligible studies according to inclusion/exclusion criteria, we investigated the risk of bias in the selected studies and also the heterogeneity between the primary results using Cochrane (Q) and I-squared ($I^2$) indices. The primary results were combined using inverse variance method and Cohen statistics as well as a random effects model. Publication bias was assessed using Egger test. Sensitivity analysis was applied to investigate the influence of each primary study on the final result of the meta-analysis. Suspected factors in the heterogeneity were assessed using meta-regression models. We entered 12 eligible studies in the meta-analysis including 851 cases compared with 862 controls. The standardized mean difference of Vitamin D between the two groups was -0.56 (95% confidence interval: -1.05, -0.08). Our meta-analysis showed that vitamin D serum levels of patients with fibromyalgia was significantly lower than that of control group.

• Archives of Plastic Surgery
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• 제33권3호
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• pp.371-375
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• 2006

Frontometaphyseal dysplasia is a rare genetic syndrome first described by Gorlin and Cohen in 1969. This disease affects the skeletal system and connective tissue, and could be characterized by hyperostosis of the skull, prominence of supraorbital ridges, additional skeletal and extraskeletal abnormalities. It is believed that the condition is an X-linked dominant trait with severe manifextations in males and extreme variability in females.We described a case of 15-year-old boy manifested a pronounced supraorbital ridge associated with exorbitism. He also had bilateral progressive hearing deficit, thoracic spine scoliosis, chest wall deformity, bilateral maxillary sinusitis and both 5th finger arachnodactyly.The patient underwent a fronto-temporo-orbital cranioplasty through a coronal incision. The frontal bone including supraorbital region, orbital lateral rim and temporal bone were extensively contoured with burr. And then, burring of the medial aspect of lateral orbital wall was made to increase both orbital volume for correction of exorbitism. Postoperative results show well corrected prominent supraorbital ridge, hyperostosis of frontotemporal bone and exorbitism. The patient was satisfied with the improved appearance. No recurrence occurred during the 6 months of follow-up period. We report this case as it shows esthetically good result without any complication.