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1.
Article in English | WPRIM | ID: wpr-915522

ABSTRACT

Background@#We aimed to examine the delay in antiviral initiation in rapid antigen test (RAT) false-negative children with influenza virus infection and to explore the clinical outcomes. We additionally conducted a medical cost-benefit analysis. @*Methods@#This single-center, retrospective study included children (aged < 10 years) with influenza-like illness (ILI), hospitalized after presenting to the emergency department during three influenza seasons (2016–2019). RAT-false-negativity was defined as RAT-negative and polymerase chain reaction-positive cases. The turnaround time to antiviral treatment (TAT) was from the time when RAT was prescribed to the time when the antiviral was administered. The medical cost analysis by scenarios was also performed. @*Results@#A total of 1,430 patients were included, 7.5% were RAT-positive (n = 107) and 2.4% were RAT-false-negative (n = 20). The median TAT of RAT-false-negative patients was 52.8 hours, significantly longer than that of 4 hours in RAT-positive patients (19.2–100.1, P< 0.001). In the multivariable analysis, TAT of ≥ 24 hours was associated with a risk of severe influenza infection and the need for mechanical ventilation (odds ratio [OR], 6.8, P = 0.009 and OR, 16.2, P = 0.033, respectively). The medical cost varied from $11.7–187.3/ILI patient. @*Conclusion@#Antiviral initiation was delayed in RAT-false-negative patients. Our findings support the guideline that children with influenza, suspected of having severe or progressive infection, should be treated immediately.

2.
Mood and Emotion ; (2): 35-46, 2021.
Article in English | WPRIM | ID: wpr-918511

ABSTRACT

Background@#Personality might be one of the important factors related to stress-coping in mood disorders. This study aimed to investigate the relationship between personality and stress-coping strategies in patients with bipolar and depressive disorders. @*Methods@#A total of 195 patients diagnosed with bipolar and depressive disorders according to the criteria mentioned in Diagnostic and Statistical Manual of Mental disorders’ 5th edition were included. Pearson’s correlation and multiple regression analyses were used to analyze the relationship between personality, measured by Temperament and Character Inventory and NEO-Five Factor Inventory, and coping strategies, measured by Coping Inventory for Stressful Situations. @*Results@#Self-directedness was reported to be positively associated with task-oriented coping in bipolar disorders, and harm avoidance was negatively associated with task-oriented coping in depressive disorders. Beck Depression Inventory score, neuroticism, and extroversion were found to be positively associated with emotion-oriented coping in bipolar disorders, and neuroticism was positively associated with emotion-oriented coping in depressive disorders. Extroversion was reported to be positively associated with avoidance-oriented coping in bipolar disorders, and extroversion, novelty seeking, and reward dependence were positively associated with avoidance-oriented coping in depressive disorders. @*Conclusion@#This study concluded that the relationship between personality and stress-coping strategies may vary based on the type of mood disorder that is diagnosed. The interaction between personality and stress-coping might be considered for the modification of coping strategies in mood disorders.

3.
Article in English | WPRIM | ID: wpr-913324

ABSTRACT

Purpose@#Allergen sensitization is constantly changing, and understanding these changes can help manage and prevent allergic diseases. This research analyzed and compared the changes in allergen sensitization in children diagnosed with allergic diseases using the skin test and the multiple allergen simultaneous test. @*Methods@#We retrospectively analyzed the data on children who were diagnosed with allergic diseases and received immunotherapy at Yonsei Medical Center from 1980 to 1998 and they were screened for allergen sensitization at Severance Hospital from 2005 to 2019. @*Results@#Between 1980 and 1998, and between 2005 and 2019, data on 3,205 (male, 70.3%; mean age, 7.2 ± 2.9 years) and 15,318 children (male, 62.8%; mean age, 8.8 ± 4.5 years) were analyzed. The sensitized allergens that appeared in the 1980–1998 included Dermatophagoides farinae (91.0%), Dermatophagoides pteronyssinus (76.3%), cockroach (13.5%), and Alternaria (11.5%), in order of frequency; further, the sensitized allergens that appeared in the 2005–2019 included D. farinae (45.0%), D. pteronyssinus (39.6%), cat dander (12.2%), and dog dander (9.1%), in order of frequency. D. farinae and D. pteronyssinus demonstrated the highest sensitization rates, although the rates decreased gradually. The sensitization to cat dander and dog dander showed a growing trend, and sensitization to Humulus japonicus, Candida, and cockroach decreased after 2005. @*Conclusion@#Over the past 40 years, the allergen sensitization in Korean children with allergic diseases has increased. These changes reflect lifestyle and environmental changes and influence allergic disease management approaches. Thus, changes in allergic sensitization should be monitored continuously.

4.
Article in English | WPRIM | ID: wpr-902452

ABSTRACT

Objective@#To compare the screening performance of diffusion-weighted (DW) MRI and combined mammography and ultrasound (US) in detecting clinically occult contralateral breast cancer in women with newly diagnosed breast cancer. @*Materials and Methods@#Between January 2017 and July 2018, 1148 women (mean age ± standard deviation, 53.2 ± 10.8 years) with unilateral breast cancer and no clinical abnormalities in the contralateral breast underwent 3T MRI, digital mammography, and radiologist-performed whole-breast US. In this retrospective study, three radiologists independently and blindly reviewed all DW MR images (b = 1000 s/mm2 and apparent diffusion coefficient map) of the contralateral breast and assigned a Breast Imaging Reporting and Data System category. For combined mammography and US evaluation, prospectively assessed results were used. Using histopathology or 1-year follow-up as the reference standard, cancer detection rate and the patient percentage with cancers detected among all women recommended for tissue diagnosis (positive predictive value; PPV2) were compared. @*Results@#Of the 30 cases of clinically occult contralateral cancers (13 invasive and 17 ductal carcinoma in situ [DCIS]), DW MRI detected 23 (76.7%) cases (11 invasive and 12 DCIS), whereas combined mammography and US detected 12 (40.0%, five invasive and seven DCIS) cases. All cancers detected by combined mammography and US, except two DCIS cases, were detected by DW MRI. The cancer detection rate of DW MRI (2.0%; 95% confidence interval [CI]: 1.3%, 3.0%) was higher than that of combined mammography and US (1.0%; 95% CI: 0.5%, 1.8%; p = 0.009). DW MRI showed higher PPV2 (42.1%; 95% CI: 26.3%, 59.2%) than combined mammography and US (18.5%; 95% CI: 9.9%, 30.0%; p = 0.001). @*Conclusion@#In women with newly diagnosed breast cancer, DW MRI detected significantly more contralateral breast cancers with fewer biopsy recommendations than combined mammography and US.

5.
Article in English | WPRIM | ID: wpr-899326

ABSTRACT

Primary cilium has a signal transduction function that is essential for brain development, and also determines cell polarity and acts as a mediator for important signaling systems, especially the Sonic Hedgehog (SHH) pathway. TBC1D32 is a ciliary protein, implicated in SHH signaling. Biallelic mutations in the TBC1D32 gene causes a kind of ciliopathy, heterogeneous developmental or degenerative disorders that affect multiple organs, including the brain. Here we report a boy who carried compound heterozygous variants in TBC1D32. The patient showed hypotonia, respiratory difficulty, and multiple anomalies at his birth. He was diagnosed with congenital hypopituitarism and treated with T4, hydrocortisone, and growth hormone. Despite the hormonal replacement, the patient needed long-term respiratory support with tracheostomy and nutritional support with a feeding tube. His developmental milestones were severely retarded. Hydrocephalus and strabismus developed and both required surgery, during the outpatient follow-up. Whole-exome sequencing indicated compound heterozygous variants, c.2200C>T (p.Arg734*) and c.156-1G>T, in TBC1D32 gene. This is the first Korean case of TBC1D32-related ciliopathy and we reported detailed and sequential clinical features. This case demonstrated the utility of whole-exome sequencing and provided valuable clinical data on ultra-rare disease.

6.
Article in English | WPRIM | ID: wpr-898190

ABSTRACT

Background@#Nonalcoholic fatty liver disease (NAFLD) is the most prevalent cause of chronic liver disease worldwide. Type 2 diabetes mellitus (T2DM) is a risk factor that accelerates NAFLD progression, leading to fibrosis and cirrhosis. Thus, here we aimed to develop a simple model to predict the presence of NAFLD based on clinical parameters of patients with T2DM. @*Methods@#A total of 698 patients with T2DM who visited five medical centers were included. NAFLD was evaluated using transient elastography. Univariate logistic regression analyses were performed to identify potential contributors to NAFLD, followed by multivariable logistic regression analyses to create the final prediction model for NAFLD. @*Results@#Two NAFLD prediction models were developed, with and without serum biomarker use. The non-laboratory model comprised six variables: age, sex, waist circumference, body mass index (BMI), dyslipidemia, and smoking status. For a cutoff value of ≥60, the prediction accuracy was 0.780 (95% confidence interval [CI], 0.743 to 0.817). The second comprehensive model showed an improved discrimination ability of up to 0.815 (95% CI, 0.782 to 0.847) and comprised seven variables: age, sex, waist circumference, BMI, glycated hemoglobin, triglyceride, and alanine aminotransferase to aspartate aminotransferase ratio. Our non-laboratory model showed non-inferiority in the prediction of NAFLD versus previously established models, including serum parameters. @*Conclusion@#The new models are simple and user-friendly screening methods that can identify individuals with T2DM who are at high-risk for NAFLD. Additional studies are warranted to validate these new models as useful predictive tools for NAFLD in clinicalpractice.

7.
Article in English | WPRIM | ID: wpr-894748

ABSTRACT

Objective@#To compare the screening performance of diffusion-weighted (DW) MRI and combined mammography and ultrasound (US) in detecting clinically occult contralateral breast cancer in women with newly diagnosed breast cancer. @*Materials and Methods@#Between January 2017 and July 2018, 1148 women (mean age ± standard deviation, 53.2 ± 10.8 years) with unilateral breast cancer and no clinical abnormalities in the contralateral breast underwent 3T MRI, digital mammography, and radiologist-performed whole-breast US. In this retrospective study, three radiologists independently and blindly reviewed all DW MR images (b = 1000 s/mm2 and apparent diffusion coefficient map) of the contralateral breast and assigned a Breast Imaging Reporting and Data System category. For combined mammography and US evaluation, prospectively assessed results were used. Using histopathology or 1-year follow-up as the reference standard, cancer detection rate and the patient percentage with cancers detected among all women recommended for tissue diagnosis (positive predictive value; PPV2) were compared. @*Results@#Of the 30 cases of clinically occult contralateral cancers (13 invasive and 17 ductal carcinoma in situ [DCIS]), DW MRI detected 23 (76.7%) cases (11 invasive and 12 DCIS), whereas combined mammography and US detected 12 (40.0%, five invasive and seven DCIS) cases. All cancers detected by combined mammography and US, except two DCIS cases, were detected by DW MRI. The cancer detection rate of DW MRI (2.0%; 95% confidence interval [CI]: 1.3%, 3.0%) was higher than that of combined mammography and US (1.0%; 95% CI: 0.5%, 1.8%; p = 0.009). DW MRI showed higher PPV2 (42.1%; 95% CI: 26.3%, 59.2%) than combined mammography and US (18.5%; 95% CI: 9.9%, 30.0%; p = 0.001). @*Conclusion@#In women with newly diagnosed breast cancer, DW MRI detected significantly more contralateral breast cancers with fewer biopsy recommendations than combined mammography and US.

8.
Article in English | WPRIM | ID: wpr-891622

ABSTRACT

Primary cilium has a signal transduction function that is essential for brain development, and also determines cell polarity and acts as a mediator for important signaling systems, especially the Sonic Hedgehog (SHH) pathway. TBC1D32 is a ciliary protein, implicated in SHH signaling. Biallelic mutations in the TBC1D32 gene causes a kind of ciliopathy, heterogeneous developmental or degenerative disorders that affect multiple organs, including the brain. Here we report a boy who carried compound heterozygous variants in TBC1D32. The patient showed hypotonia, respiratory difficulty, and multiple anomalies at his birth. He was diagnosed with congenital hypopituitarism and treated with T4, hydrocortisone, and growth hormone. Despite the hormonal replacement, the patient needed long-term respiratory support with tracheostomy and nutritional support with a feeding tube. His developmental milestones were severely retarded. Hydrocephalus and strabismus developed and both required surgery, during the outpatient follow-up. Whole-exome sequencing indicated compound heterozygous variants, c.2200C>T (p.Arg734*) and c.156-1G>T, in TBC1D32 gene. This is the first Korean case of TBC1D32-related ciliopathy and we reported detailed and sequential clinical features. This case demonstrated the utility of whole-exome sequencing and provided valuable clinical data on ultra-rare disease.

9.
Article in English | WPRIM | ID: wpr-890486

ABSTRACT

Background@#Nonalcoholic fatty liver disease (NAFLD) is the most prevalent cause of chronic liver disease worldwide. Type 2 diabetes mellitus (T2DM) is a risk factor that accelerates NAFLD progression, leading to fibrosis and cirrhosis. Thus, here we aimed to develop a simple model to predict the presence of NAFLD based on clinical parameters of patients with T2DM. @*Methods@#A total of 698 patients with T2DM who visited five medical centers were included. NAFLD was evaluated using transient elastography. Univariate logistic regression analyses were performed to identify potential contributors to NAFLD, followed by multivariable logistic regression analyses to create the final prediction model for NAFLD. @*Results@#Two NAFLD prediction models were developed, with and without serum biomarker use. The non-laboratory model comprised six variables: age, sex, waist circumference, body mass index (BMI), dyslipidemia, and smoking status. For a cutoff value of ≥60, the prediction accuracy was 0.780 (95% confidence interval [CI], 0.743 to 0.817). The second comprehensive model showed an improved discrimination ability of up to 0.815 (95% CI, 0.782 to 0.847) and comprised seven variables: age, sex, waist circumference, BMI, glycated hemoglobin, triglyceride, and alanine aminotransferase to aspartate aminotransferase ratio. Our non-laboratory model showed non-inferiority in the prediction of NAFLD versus previously established models, including serum parameters. @*Conclusion@#The new models are simple and user-friendly screening methods that can identify individuals with T2DM who are at high-risk for NAFLD. Additional studies are warranted to validate these new models as useful predictive tools for NAFLD in clinicalpractice.

10.
Psychiatry Investigation ; : 147-156, 2021.
Article in English | WPRIM | ID: wpr-875361

ABSTRACT

Objective@#Even though the importance of stress-coping, there is no reliable and valid scale to measure the stress-coping behavior yet. The purpose of this study is to explore the psychometric properties of Behavioral Checklist for Coping with Stress (BCCS). @*Methods@#A total of 458 subjects including healthy subjects and patients with bipolar or depressive disorders were analyzed. The reliability and validity of BCCS were examined by Chronbach’s alpha and exploratory factor analysis using Principal Component Analysis. In order to evaluate criterion-related validity, the Pearson’s correlation analyses between factors of BCCS and relevant scales were performed. @*Results@#BCCS showed good Chronobach’s alpha (0.695–0.833) and had acceptable validity. Factor 1 and factor 4 of BCCS were negatively correlated with depression, anxiety and positivity correlated with task and problem-solving, avoidance, tension-releasing copings in common. Factor 2 and 3 were positively correlated with impulsivity, emotionality, avoidance, behavioral and verbal aggression and tension-releasing copings in common. Different from factor 2, factor 3 was positively correlated with depression, anxiety and anger-suppression. @*Conclusion@#The results of this study suggest that this BCCS might be a reliable and valid scale for measuring stress-coping behaviors. This scale could facilitate research to investigate clinical implications related to behavioral stress-coping.

11.
Psychiatry Investigation ; : 172-178, 2021.
Article in English | WPRIM | ID: wpr-875358

ABSTRACT

Objective@#This study aimed to develop a brief self-report measure of depressive and anxiety symptoms in victims of sexual violence. @*Methods@#The sample, which consisted of 215 victims and 255 healthy controls, was recruited between December 2016 and November 2018 from eight Sunflower Centers. Eligible items were selected from existing scales of depression (CES-DC and CES-D) and anxiety (SAI-C and BAI) symptoms by item-total correlation coefficients and item response theory (IRT) analysis. Internal consistency coefficients were computed and the receiver operating characteristics curve was inspected to assess the validity of the brief scale and determine optimal cutoff scores. @*Results@#The brief scales showed high internal consistency across all age groups. The optimal cutoff score of brief depression scale was 1.5 for children, 2.5 for adolescents, and 2.5 for the adults. That of brief anxiety scale was 8.5, 6.5, and 3.5, respectively. @*Conclusion@#The results underscore the need for age-appropriate screening measures of depressive and anxiety symptoms in victims of sexual violence.

12.
Article in English | WPRIM | ID: wpr-875283

ABSTRACT

Objective@#To compare the performance of simulated abbreviated breast MRI (AB-MRI) and full diagnostic (FD)-MRI in distinguishing between benign and malignant lesions detected by MRI and investigate the features of discrepant lesions of the two protocols. @*Materials and Methods@#An AB-MRI set with single first postcontrast images was retrospectively obtained from an FD-MRI cohort of 111 lesions (34 malignant, 77 benign) detected by contralateral breast MRI in 111 women (mean age, 49.8. ± 9.8;range, 28–75 years) with recently diagnosed breast cancer. Five blinded readers independently classified the likelihood of malignancy using Breast Imaging Reporting and Data System assessments. McNemar tests and area under the receiver operating characteristic curve (AUC) analyses were performed. The imaging and pathologic features of the discrepant lesions of the two protocols were analyzed. @*Results@#The sensitivity of AB-MRI for lesion characterization tended to be lower than that of FD-MRI for all readers (58.8– 82.4% vs. 79.4–100%), although the findings of only two readers were significantly different (p 0.05). Fifteen percent (5/34) of the cancers were false-negatives on AB-MRI. More suspicious margins or internal enhancement on the delayed phase images were related to the discrepancies. @*Conclusion@#The overall performance of AB-MRI was similar to that of FD-MRI in distinguishing between benign and malignant lesions. AB-MRI showed lower sensitivity and higher specificity than FD-MRI, as 15% of the cancers were misclassified compared to FD-MRI.

13.
Article in English | WPRIM | ID: wpr-875092

ABSTRACT

In the field of psychiatry, studies on circadian rhythms are increasing. This research trend is based on the emerging evidence on the relationship between circadian rhythm and pathophysiology and prognosis of psychiatric disorders.As performing the research on this area, the difficulty in analyzing large amount of data that are sequentially collected according to time change exists. In order to properly analyze the data in research on the circadian rhythm, it is necessary to effectively apply analysis methods of time series data. Therefore, this review aimed to summarize the analysis methods of circadian rhythms that show time series data. Understanding the analysis method of circadian rhythm will be useful for utilizing clinical data in the form of a time series data in the smart medical field in the future.

14.
Article in English | WPRIM | ID: wpr-874150

ABSTRACT

Background@#Silver-Russell syndrome (SRS) is a pre- or post-natal growth retardation disorder caused by (epi)genetic alterations. We evaluated the molecular basis and clinical value of sequential epigenetic analysis in pediatric patients with SRS. @*Methods@#Twenty-eight patients who met ≥ 3 Netchine-Harbison clinical scoring system (NH-CSS) criteria for SRS were enrolled;26 (92.9%) were born small for gestational age, and 25 (89.3%) showed postnatal growth failure. Relative macrocephaly, body asymmetry, and feeding difficulty were noted in 18 (64.3%), 13 (46.4%), and 9 (32.1%) patients, respectively. Methylation-specific multiplex ligation-dependent probe amplification (MSMLPA) on chromosome 11p15 was performed as the first diagnostic step. Subsequently, bisulfite pyrosequencing (BP) for imprinting center 1 and 2 (IC1 and IC2) at chromosome 11p15, MEST on chromosome 7q32.2, and MEG3 on chromosome 14q32.2 was performed. @*Results@#. Seventeen (60.7%) patients exhibited methylation defects, including loss of IC1 methylation (N = 14; 11 detected by MS-MLPA and three detected by BP) and maternal uniparental disomy 7 (N = 3). The diagnostic yield was comparable between patients who met three or four of the NH-CSS criteria (53.8% vs 50.0%). Patients with methylation defects responded better to growth hormone treatment. @*Conclusions@#NH-CSS is a powerful tool for SRS screening. However, in practice, genetic analysis should be considered even in patients with a low NH-CSS score. BP analysis detected additional methylation defects that were missed by MS-MLPA and might be considered as a first-line diagnostic tool for SRS.

15.
Article in English | WPRIM | ID: wpr-785336

ABSTRACT

Influenza vaccine-associated anaphylaxis is a very rare allergic reaction to vaccines, but the most concerning and life-threatening adverse reaction. Although the safety of influenza vaccines has been well documented, occasional cases of anaphylaxis in vaccinated patients have been reported. In this study, we analyzed the immunoglobulin E (IgE) response to whole influenza vaccines in a pediatric case of delayed-onset anaphylaxis after influenza vaccination. The patient showed elevated specific IgE levels against whole influenza vaccines, especially with split virion from egg-based manufacturing process. Specific IgE levels to influenza vaccines showed decreased over. We evaluated a causal relationship between influenza vaccine and anaphylaxis event by enzyme-linked immunosorbent assay. Delayed-onset anaphylaxis after influenza vaccination can occur in children without predisposing allergic diseases. In addition, the results suggested that formulation and production system of influenza vaccines could affect the probability of severe allergic reaction to vaccines.


Subject(s)
Anaphylaxis , Child , Drug Hypersensitivity , Enzyme-Linked Immunosorbent Assay , Humans , Hypersensitivity , Hypersensitivity, Delayed , Immunoglobulin E , Immunoglobulins , Influenza Vaccines , Influenza, Human , Vaccination , Vaccines , Virion
16.
Article in English | WPRIM | ID: wpr-782172

ABSTRACT

0.05).CONCLUSION: 2-VST of ABUS achieved comparable scan coverage and diagnostic performance to that of conventional 3-VST in women with small breasts.


Subject(s)
Breast Neoplasms , Breast , Female , Humans , Sensitivity and Specificity , Ultrasonography
18.
Article in Korean | WPRIM | ID: wpr-913275

ABSTRACT

Organizing pneumonia is characterized histologically by the formation of granulation-tissue plugs within the lumens of small airways. It was reported in association with various disorders including infection, drug reactions and collagen vascular diseases. However, there have been only a few reports on organizing pneumonia accompanied by systemic lupus erythematosus (SLE), especially in the pediatric population. Herein, we report a case of an adolescent with SLE who initially developed respiratory illnesses due to organizing pneumonia. A 14-year-old girl was referred to our clinic for protracted cough with fever, dyspnea, and hemoptysis. Her chest x-ray revealed predominant multifocal consolidations in bilateral lung fields with pleural effusion. Computed tomography scan showed patchy consolidations with surrounding ground-glass opacities and a crazy paving appearance with multiple centrilobular nodules. Laboratory tests exhibited pancytopenia, elevated blood urea nitrogen and creatinine, proteinuria, low serum levels of complements, and positivity for antinuclear antibody and anti-double-stranded DNA antibody, which were suggestive of SLE. Lung biopsy was performed to exclude the possibility of vasculitis and other mixed connective tissue diseases, which confirmed focal organizing pneumonia. Systemic steroid therapy, including high-dose methylprednisolone, was started. After the treatment, her respiratory symptoms and radiologic findings showed significant improvements. The patient has been followed up so far, and she has remined disease-free. This pediatric case of organizing pneumonia as the initial presentation of SLE alerts clinicians to consider thorough assessment of pulmonary manifestations of SLE in children.

19.
Article in English | WPRIM | ID: wpr-899321

ABSTRACT

Purpose@#Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous group of disorders characterized by impaired neuromuscular transmission. This study aims to provide the clue for early diagnosis and improved therapeutic strategies in CMS. @*Materials and Methods@#Through the targeted panel sequencing including twenty CMS causative genes, eleven patients were genetically confirmed and enrolled in this study. A retrospective medical record review was carried out for the clinical and laboratory data analysis. @*Results@#The age of patients ranged from 5 to 23 years, with the median age of 16 years. The peak age at onset of symptoms was the neonatal period. Seven out of the eleven patients were symptomatic at birth. The most commonly reported initial finding was generalized hypotonia with poor sucking and crying. Mean time to accurate diagnosis was 9.3±5.0 years. Total fifteen different variants in seven genes associated with CMS (DOK7, AGRN, RAPSN, CHRNE, COLQ, SLC5A7, and GFPT1) were identified. @*Conclusion@#We describe the clinical and genetic characteristics of CMS patients and treatment outcome in a single tertiary center. High clinical suspicion and timely molecular diagnosis is particularly important for the tailored therapy to maximize clinical improvement in CMS.

20.
Article in English | WPRIM | ID: wpr-891617

ABSTRACT

Purpose@#Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous group of disorders characterized by impaired neuromuscular transmission. This study aims to provide the clue for early diagnosis and improved therapeutic strategies in CMS. @*Materials and Methods@#Through the targeted panel sequencing including twenty CMS causative genes, eleven patients were genetically confirmed and enrolled in this study. A retrospective medical record review was carried out for the clinical and laboratory data analysis. @*Results@#The age of patients ranged from 5 to 23 years, with the median age of 16 years. The peak age at onset of symptoms was the neonatal period. Seven out of the eleven patients were symptomatic at birth. The most commonly reported initial finding was generalized hypotonia with poor sucking and crying. Mean time to accurate diagnosis was 9.3±5.0 years. Total fifteen different variants in seven genes associated with CMS (DOK7, AGRN, RAPSN, CHRNE, COLQ, SLC5A7, and GFPT1) were identified. @*Conclusion@#We describe the clinical and genetic characteristics of CMS patients and treatment outcome in a single tertiary center. High clinical suspicion and timely molecular diagnosis is particularly important for the tailored therapy to maximize clinical improvement in CMS.

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