• Journal of Dental Anesthesia and Pain Medicine
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• v.22 no.2
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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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• v.18 no.1
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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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• v.27 no.1
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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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• v.11 no.4
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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.

• Physical Therapy Korea
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• v.21 no.3
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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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• v.46 no.10
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• pp.1044-1046
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• 2003

Craniofrontonasal dysplasia(CFND), a rare congenital syndrome, is characterized by varying degrees of frontonasal dysplasia, craniosynostosis, and variable extracranial abnormalities. It was first reported by Cohen in 1979. The inheritance pattern is not straightforward. Although all modes of Mendelian inheritance have been suggested, the most plausible explanation is that this is an X-linked condition with the unusual situation of complete expression in females, and minimal to no expression in males. In our case, CFND was diagnosed in a female neonate who had unilateral coronal craniosynostosis, frontal bossing, orbital hypertelorism, broad nasal root, clefting nasal tip, corpus callosum agenesis and mild extremity abnormalities.

• Journal of the Korean Society of Radiology
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• v.18 no.2
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• pp.73-81
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• 2024

This study compared the cortical thickness of patients with mood disorders and a control group to assess structural abnormalities. A retrospective study was conducted from September 2020 to August 2022 at the Department of Psychiatry, P Hospital in Yangsan, Gyeongsangnam-do. The study included 44 individuals diagnosed with mood disorders and 59 healthy individuals without any pathological lesions. The 3D-T1 MPRAGE images obtained from magnetic resonance imaging examinations were utilized, and FreeSurfer software was employed to measure cortical thickness. Statistical analysis involved independent samples t-tests to measure the differences in means between the two groups, and Cohen's d test was used to compare the effect sizes of the differences. Furthermore, the correlation between the measured average cortical thickness and Positive and Negative Syndrome Scale scores was analyzed. The research results revealed that patients with mood disorders exhibited decreased cortical thickness compared to the normal control group in both superior frontal regions, both rostral middle frontal regions, both caudal middle frontal regions, both pars opercularis, pars orbitals, pars triangularis regions, both superior temporal regions, both inferior temporal regions, both lateral orbitofrontal regions, both medial orbitofrontal regions, both fusiform regions, both posterior cingulate regions, both isthmus cingulate regions, both superior parietal regions, both inferior parietal regions, both supramarginal regions, left postcentral region, right bank of the superior temporal sulcus region, right middle temporal region, right rostral anterior cingulate region, and right insula region. Among them, regions that showed differences with effect sizes of 0.8 or higher were left fusiform (d=0.82), pars opercularis (d=0.94), superior frontal (d=0.88), right lateral orbitofrontal (d=0.85), and pars orbitalis (d=0.89). Additionally, there was a weak negative correlation between PANSS scores and average cortical thickness in both the left hemisphere (r=-0.234) and right hemisphere (r=-0.230). These findings are expected to be helpful in identifying areas of cortical thickness reduction in patients with mood disorders compared to healthy individuals and understanding the relationship between symptom severity and cortical thickness changes.

• Journal of Gastric Cancer
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• v.14 no.2
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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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• v.30 no.4
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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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• v.33 no.3
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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.