Spondylocarpotarsal synostosis syndrome (SCTS) is a rare genetic disorder characterized by vertebral fusion, short stature, and skeletal anomalies. SCTS is primarily associated with mutations in filamin B. However, in this report, we present a unique case of SCTS in a 28-year-old male who complained of neck and shoulder pain persisting for 1 year. His clinical presentation included radioulnar synostosis, cervical spine anomalies (scoliosis and agenesis of the posterior arch of C1), and a history of polydactyly. Genetic analysis revealed mutations in GMNN and DLL1. To the best of our knowledge, this is the first report on the association of SCTS with these genes.

Spondylocarpotarsal synostosis syndrome (SCTS) is a rare genetic disorder characterized by vertebral fusion, short stature, and skeletal anomalies. SCTS is primarily associated with mutations in filamin B. However, in this report, we present a unique case of SCTS in a 28-year-old male who complained of neck and shoulder pain persisting for 1 year. His clinical presentation included radioulnar synostosis, cervical spine anomalies (scoliosis and agenesis of the posterior arch of C1), and a history of polydactyly. Genetic analysis revealed mutations in GMNN and DLL1. To the best of our knowledge, this is the first report on the association of SCTS with these genes.

Spondylocarpotarsal synostosis syndrome (SCTS) is a rare genetic disorder characterized by vertebral fusion, short stature, and skeletal anomalies. SCTS is primarily associated with mutations in filamin B. However, in this report, we present a unique case of SCTS in a 28-year-old male who complained of neck and shoulder pain persisting for 1 year. His clinical presentation included radioulnar synostosis, cervical spine anomalies (scoliosis and agenesis of the posterior arch of C1), and a history of polydactyly. Genetic analysis revealed mutations in GMNN and DLL1. To the best of our knowledge, this is the first report on the association of SCTS with these genes.

Spondylocarpotarsal synostosis syndrome (SCTS) is a rare genetic disorder characterized by vertebral fusion, short stature, and skeletal anomalies. SCTS is primarily associated with mutations in filamin B. However, in this report, we present a unique case of SCTS in a 28-year-old male who complained of neck and shoulder pain persisting for 1 year. His clinical presentation included radioulnar synostosis, cervical spine anomalies (scoliosis and agenesis of the posterior arch of C1), and a history of polydactyly. Genetic analysis revealed mutations in GMNN and DLL1. To the best of our knowledge, this is the first report on the association of SCTS with these genes.

OBJECTIVES: Adrenergic alpha 1 and 2 receptors work as pathways to control the serotonergic neuron moderation and mirtazapine acts as antagonist of these receptors. The adrenoreceptor alpha 1a (ADRA1A) gene, which encodes adrenergic alpha 1 receptor, has Arg347Cys genetic polymorphism and the polymorphism has strong relationship with many neuro-psychiatric diseases. In this study, we explored the relationship between ADRA1A R347C polymorphism and mirtazapine treatment response in Koreans with major depression. METHODS: 352 patients enrolled in this study, and the symptoms were evaluated by 17-item Hamilton Depression Rating (HAMD-17) scale. After 1, 2, 4, 8, and 12 weeks of mirtazapine treatment, the association between ADRA1A R347C polymorphism and remission/response outcomes was evaluated. RESULTS: Treatment response to mirtazapine was significantly better in T allele carriers than C allele homozygotes after 12 weeks of mirtazapine monotherapy. The percentile decline of HAMD-17 score in T allele carriers was larger than that of C allele homozygotes. ADRA1A R347C genotypes were not significantly associated with remission. CONCLUSIONS: The result showed that treatment response to mirtazapine was significantly associated with ADRA1A R347C genetic polymorphism. T allele carriers showed better treatment response than C allele homozygotes. It can be supposed that T allele carriers have a trend of better treatment response to mirtazapine monotherapy.
Alleles ; Depression* ; Depressive Disorder, Major ; Genotype ; Homozygote ; Humans ; Polymorphism, Genetic ; Serotonergic Neurons

A 29-year-old woman had 1-month history of back pain radiating into lower extremities, motor weakness, and sensory abnormalities in both lower extremities. Contrast-enhanced spinal magnetic resonance imaging (MRI) revealed a homogeneously enhancing mass at the T12∼L1 and several intradural enhancing nodular lesions at L2∼S1. Tumor resection surgery was performed and following histological examination showed that the tumor satisfied the diagnostic criteria for atypical choroid plexus papilloma (CPP). To find primary tumor sites, contrast-enhanced brain MRI, whole spine MRI, and PET-CT were carried out and additional lesions were detected at the fourth ventricle, right cerebellum, and upper thoracic spinal cord. This is a very rare case of metastatic atypical CPP that involves brain, upper thoracic spinal cord, and cauda equina with initial manifestation of radicular symptoms without clinical signs of primary brain lesion.

A 29-year-old woman had 1-month history of back pain radiating into lower extremities, motor weakness, and sensory abnormalities in both lower extremities. Contrast-enhanced spinal magnetic resonance imaging (MRI) revealed a homogeneously enhancing mass at the T12∼L1 and several intradural enhancing nodular lesions at L2∼S1. Tumor resection surgery was performed and following histological examination showed that the tumor satisfied the diagnostic criteria for atypical choroid plexus papilloma (CPP). To find primary tumor sites, contrast-enhanced brain MRI, whole spine MRI, and PET-CT were carried out and additional lesions were detected at the fourth ventricle, right cerebellum, and upper thoracic spinal cord. This is a very rare case of metastatic atypical CPP that involves brain, upper thoracic spinal cord, and cauda equina with initial manifestation of radicular symptoms without clinical signs of primary brain lesion.

OBJECTIVES: The aim of this study was to investigate various factors associated with the willingness to visit psychiatric clinics among the general adult population in Bucheon city, South Korea. METHODS: One thousand seventy-five adults completed a self-questionnaire assessing their willingness to visit psychiatric clinics, family history of mental illnesses, frequency of contact with the mentally ill, stigma and discrimination toward the mentally ill, and the Community Attitude toward the Mentally Ill (CAMI). Logistic regression analyses were performed to identify variables associated with the willingness to visit psychiatric clinics. RESULTS: Study results showed that being single was associated with reduced willingness to visit psychiatric clinics. Subjects who had more frequent contact with mentally ill patients were more willing to visit psychiatric clinics. Concerning the CAMI scale, higher scores in authoritarianism and lower scores in benevolence subscales were associated with greater willingness to visit psychiatric clinic. Subjects who strongly admitted the existence of the stigma, and discrimination, toward mentally ill patients were more willing to visit psychiatric clinics. CONCLUSION: Enhanced understanding of the factors associated with the willingness to visit psychiatric clinics would be helpful in reducing barriers to mental health services utilization in the community.
Adult* ; Ambulatory Care ; Authoritarianism ; Beneficence ; Discrimination (Psychology) ; Gyeonggi-do* ; Humans ; Korea ; Logistic Models ; Mental Health ; Mental Health Services ; Mentally Ill Persons

Takayasu's arteritis (TA) is a chronic inflammatory vascular disease that mainly affects large vessels. Central nervous system involvement occurs in about 20% of cases with rare involvement of intracranial vessel, and its typical manifestation is cerebral ischemia or stroke. Reversible cerebral vasoconstriction syndrome (RCVS) is a group of disorders with prolonged, but reversible vasoconstriction of the cerebral arteries with acute-onset, severe, recurrent headaches with or without neurologic signs or symptoms. We report a case of TA in a 17-year old girl who presented with secondary RCVS. She complained of thunderclap headache, seizure and acute stroke. 3-dimensional computed tomography scan and magnetic resonance angiography of head revealed irregular thickening of aortic wall and its main branches with multifocal narrowing of intracranial basilar artery, which improved after oral nimodipine intake. This case highlights RCVS as an unusual manifestation of TA and demonstrates the diagnosis, treatment and response to therapy of RCVS in TA, which resolved after treatment with calcium channel blocker.
Basilar Artery ; Brain Ischemia ; Calcium Channels ; Central Nervous System ; Cerebral Arteries ; Glycosaminoglycans ; Head ; Headache ; Headache Disorders, Primary ; Humans ; Magnetic Resonance Angiography ; Neurologic Manifestations ; Nimodipine ; Seizures ; Stroke ; Takayasu Arteritis ; Vascular Diseases ; Vasoconstriction

A 61-year-old woman came to the hospital with dyspnea and pleural effusion on chest radiography. She underwent repeated thoracentesis, transbronchial lung biopsy, bronchoalveolar lavage, and thoracoscopic pleural biopsy with talc pleurodesis, but diagnosis of her was uncertain. Positron emission tomography showed multiple lymphadenopathies, so she underwent endobronchial ultrasound-guided transbronchial needle aspiration of mediastinal lymph nodes. Here, we report a case of malignant pleural mesothelioma that was eventually diagnosed by endobronchial ultrasound-guided transbronchial needle aspiration. This is an unusual and first case in Korea.
Biopsy ; Bronchoalveolar Lavage ; Bronchoscopy ; Dyspnea ; Female ; Humans ; Korea ; Lung ; Lymph Nodes ; Mesothelioma ; Needles ; Pleural Effusion ; Pleurodesis ; Porphyrins ; Positron-Emission Tomography ; Talc ; Thorax