3.Clinical Characteristics, Genetic Features, and Long-Term Outcome of Wilson’s Disease in a Taiwanese Population: An 11-Year Follow-Up Study
Sung-Pin FAN ; Yih-Chih KUO ; Ni-Chung LEE ; Yin-Hsiu CHIEN ; Wuh-Liang HWU ; Yu-Hsuan HUANG ; Han-I LIN ; Tai-Chung TSENG ; Tung-Hung SU ; Shiou-Ru TZENG ; Chien-Ting HSU ; Huey-Ling CHEN ; Chin-Hsien LIN ; Yen-Hsuan NI
Journal of Movement Disorders 2023;16(2):168-179
Objective:
aaWilson’s disease (WD) is a rare genetic disorder of copper metabolism, and longitudinal follow-up studies are limited. We performed a retrospective analysis to determine the clinical characteristics and long-term outcomes in a large WD cohort.
Methods:
aaMedical records of WD patients diagnosed from 2006–2021 at National Taiwan University Hospital were retrospectively evaluated for clinical presentations, neuroimages, genetic information, and follow-up outcomes.
Results:
aaThe present study enrolled 123 WD patients (mean follow-up: 11.12 ± 7.41 years), including 74 patients (60.2%) with hepatic features and 49 patients (39.8%) with predominantly neuropsychiatric symptoms. Compared to the hepatic group, the neuropsychiatric group exhibited more Kayser-Fleischer rings (77.6% vs. 41.9%, p < 0.01), lower serum ceruloplasmin levels (4.9 ± 3.9 vs. 6.3 ± 3.9 mg/dL, p < 0.01), smaller total brain and subcortical gray matter volumes (p < 0.0001), and worse functional outcomes during follow-up (p = 0.0003). Among patients with available DNA samples (n = 59), the most common mutations were p.R778L (allelic frequency of 22.03%) followed by p.P992L (11.86%) and p.T935M (9.32%). Patients with at least one allele of p.R778L had a younger onset age (p = 0.04), lower ceruloplasmin levels (p < 0.01), lower serum copper levels (p = 0.03), higher percentage of the hepatic form (p = 0.03), and a better functional outcome during follow-up (p = 0.0012) compared to patients with other genetic variations.
Conclusion
aaThe distinct clinical characteristics and long-term outcomes of patients in our cohort support the ethnic differences regarding the mutational spectrum and clinical presentations in WD.
4.Proton Pump Inhibitor-unresponsive Laryngeal Symptoms Are Associated With Psychological Comorbidities and Sleep Disturbance: A Manometry and Impedance-pH Monitoring Study
Wen-Hsuan TSENG ; Wei-Chung HSU ; Tsung-Lin YANG ; Tzu-Yu HSIAO ; Jia-Feng WU ; Hui-Chuan LEE ; Hsiu-Po WANG ; Ming-Shiang WU ; Ping-Huei TSENG
Journal of Neurogastroenterology and Motility 2023;29(3):314-325
Background/Aims:
Laryngeal symptoms are largely treated with empiric proton pump inhibitor (PPI) therapy if no apparent pathology shown on ear, nose, and throat evaluation and reflux-related etiologies are suspected. However, treatment response remains unsatisfactory. This study aimed to investigate the clinical and physiological characteristics of patients with PPI-refractory laryngeal symptoms.
Methods:
Patients with persistent laryngeal symptoms despite PPI treatment for ≥ 8 weeks were recruited. A multidisciplinary evaluationcomprising validated questionnaires for laryngeal symptoms (reflux symptom index [RSI]), gastroesophageal reflux disease symptoms, psychological comorbidity (5-item brief symptom rating scale [BSRS-5]) and sleep disturbance (Pittsburgh sleep quality index [PSQI]), esophagogastroduodenoscopy, ambulatory impedance-pH monitoring, and high-resolution impedance manometry were performed.Healthy asymptomatic individuals were also recruited for comparison of psychological morbidity and sleep disturbances.
Results:
Ninety-seven adult patients and 48 healthy volunteers were analyzed. The patients had markedly higher prevalence of psychological distress (52.6% vs 2.1%, P < 0.001) and sleep disturbance (82.5% vs 37.5%, P < 0.001) than the healthy volunteers. There were significant correlations between RSI and BSRS-5 scores, and between RSI and PSQI scores (r = 0.26, P = 0.010, and r = 0.29, P = 0.004, respectively). Fifty-eight patients had concurrent gastroesophageal reflux disease symptoms. They had more prominent sleep disturbances (89.7% vs 71.8%, P < 0.001) than those with laryngeal symptoms alone but similar reflux profiles and esophageal motility.
Conclusions
PPI-refractory laryngeal symptoms are mostly associated with psychological comorbidities and sleep disturbances. Recognition of these psychosocial comorbidities may help optimize management in these patients.
5.Clinical and Radiological Outcomes of Transarterial Embolization for Adhesive Capsulitis
Keng-Wei LIANG ; Hsuan Yin LIN ; Kai-Lan HSU ; Fa-Chuan KUAN ; Chia-Yu GEAN ; Chien-Kuo WANG ; Wei-Ren SU ; Bow WANG
Korean Journal of Radiology 2025;26(3):230-238
Objective:
To assess the effect of transarterial embolization (TAE) for adhesive capsulitis (AC) by evaluating clinical outcomes and changes in inflammation using magnetic resonance imaging (MRI).
Materials and Methods:
Patients who had undergone TAE between August 2020 and August 2023 for AC refractory to conservative treatments without any invasive procedures for more than 3 months, and had undergone baseline and 3-month post-AC follow-up contrast-enhanced MRI evaluations, were included. A suspension mixture of 500 mg imipenem/cilastatin in 10 mL of iodinated contrast agent was used for TAE. MRI results were analyzed to assess periarticular capsule/ligament inflammation. Clinical assessments included pain scores using the numeric rating scale (NRS) and functional scores using the quick disabilities of the arm, shoulder, and hand (Quick DASH) questionnaire.
Results:
Twenty-five patients (female:male, 14:11; age, 54.9 ± 7.1 years) were included. Significant reductions in average NRS pain scores as well as improvements in Quick DASH scores and range of motion, including anterior flexion and abduction, were observed at 1, 3, and 6 months after TAE (all P < 0.001). MRI analyses revealed that TAE significantly decreased the grades of axillary recess capsule enhancement, rotator interval (RI) capsule T2 signal intensity, and RI capsule enhancement (all P ≤ 0.004).
Conclusion
TAE may be an effective and safe therapeutic approach for AC refractory to conservative treatments, alleviating pain and supporting functional recovery. The observed MRI findings suggest that the effectiveness of TAE for AC may be attributed to the reduction of inflammation and the elimination of angiogenesis.
6.Clinical and Radiological Outcomes of Transarterial Embolization for Adhesive Capsulitis
Keng-Wei LIANG ; Hsuan Yin LIN ; Kai-Lan HSU ; Fa-Chuan KUAN ; Chia-Yu GEAN ; Chien-Kuo WANG ; Wei-Ren SU ; Bow WANG
Korean Journal of Radiology 2025;26(3):230-238
Objective:
To assess the effect of transarterial embolization (TAE) for adhesive capsulitis (AC) by evaluating clinical outcomes and changes in inflammation using magnetic resonance imaging (MRI).
Materials and Methods:
Patients who had undergone TAE between August 2020 and August 2023 for AC refractory to conservative treatments without any invasive procedures for more than 3 months, and had undergone baseline and 3-month post-AC follow-up contrast-enhanced MRI evaluations, were included. A suspension mixture of 500 mg imipenem/cilastatin in 10 mL of iodinated contrast agent was used for TAE. MRI results were analyzed to assess periarticular capsule/ligament inflammation. Clinical assessments included pain scores using the numeric rating scale (NRS) and functional scores using the quick disabilities of the arm, shoulder, and hand (Quick DASH) questionnaire.
Results:
Twenty-five patients (female:male, 14:11; age, 54.9 ± 7.1 years) were included. Significant reductions in average NRS pain scores as well as improvements in Quick DASH scores and range of motion, including anterior flexion and abduction, were observed at 1, 3, and 6 months after TAE (all P < 0.001). MRI analyses revealed that TAE significantly decreased the grades of axillary recess capsule enhancement, rotator interval (RI) capsule T2 signal intensity, and RI capsule enhancement (all P ≤ 0.004).
Conclusion
TAE may be an effective and safe therapeutic approach for AC refractory to conservative treatments, alleviating pain and supporting functional recovery. The observed MRI findings suggest that the effectiveness of TAE for AC may be attributed to the reduction of inflammation and the elimination of angiogenesis.
7.Clinical and Radiological Outcomes of Transarterial Embolization for Adhesive Capsulitis
Keng-Wei LIANG ; Hsuan Yin LIN ; Kai-Lan HSU ; Fa-Chuan KUAN ; Chia-Yu GEAN ; Chien-Kuo WANG ; Wei-Ren SU ; Bow WANG
Korean Journal of Radiology 2025;26(3):230-238
Objective:
To assess the effect of transarterial embolization (TAE) for adhesive capsulitis (AC) by evaluating clinical outcomes and changes in inflammation using magnetic resonance imaging (MRI).
Materials and Methods:
Patients who had undergone TAE between August 2020 and August 2023 for AC refractory to conservative treatments without any invasive procedures for more than 3 months, and had undergone baseline and 3-month post-AC follow-up contrast-enhanced MRI evaluations, were included. A suspension mixture of 500 mg imipenem/cilastatin in 10 mL of iodinated contrast agent was used for TAE. MRI results were analyzed to assess periarticular capsule/ligament inflammation. Clinical assessments included pain scores using the numeric rating scale (NRS) and functional scores using the quick disabilities of the arm, shoulder, and hand (Quick DASH) questionnaire.
Results:
Twenty-five patients (female:male, 14:11; age, 54.9 ± 7.1 years) were included. Significant reductions in average NRS pain scores as well as improvements in Quick DASH scores and range of motion, including anterior flexion and abduction, were observed at 1, 3, and 6 months after TAE (all P < 0.001). MRI analyses revealed that TAE significantly decreased the grades of axillary recess capsule enhancement, rotator interval (RI) capsule T2 signal intensity, and RI capsule enhancement (all P ≤ 0.004).
Conclusion
TAE may be an effective and safe therapeutic approach for AC refractory to conservative treatments, alleviating pain and supporting functional recovery. The observed MRI findings suggest that the effectiveness of TAE for AC may be attributed to the reduction of inflammation and the elimination of angiogenesis.
8.Clinical and Radiological Outcomes of Transarterial Embolization for Adhesive Capsulitis
Keng-Wei LIANG ; Hsuan Yin LIN ; Kai-Lan HSU ; Fa-Chuan KUAN ; Chia-Yu GEAN ; Chien-Kuo WANG ; Wei-Ren SU ; Bow WANG
Korean Journal of Radiology 2025;26(3):230-238
Objective:
To assess the effect of transarterial embolization (TAE) for adhesive capsulitis (AC) by evaluating clinical outcomes and changes in inflammation using magnetic resonance imaging (MRI).
Materials and Methods:
Patients who had undergone TAE between August 2020 and August 2023 for AC refractory to conservative treatments without any invasive procedures for more than 3 months, and had undergone baseline and 3-month post-AC follow-up contrast-enhanced MRI evaluations, were included. A suspension mixture of 500 mg imipenem/cilastatin in 10 mL of iodinated contrast agent was used for TAE. MRI results were analyzed to assess periarticular capsule/ligament inflammation. Clinical assessments included pain scores using the numeric rating scale (NRS) and functional scores using the quick disabilities of the arm, shoulder, and hand (Quick DASH) questionnaire.
Results:
Twenty-five patients (female:male, 14:11; age, 54.9 ± 7.1 years) were included. Significant reductions in average NRS pain scores as well as improvements in Quick DASH scores and range of motion, including anterior flexion and abduction, were observed at 1, 3, and 6 months after TAE (all P < 0.001). MRI analyses revealed that TAE significantly decreased the grades of axillary recess capsule enhancement, rotator interval (RI) capsule T2 signal intensity, and RI capsule enhancement (all P ≤ 0.004).
Conclusion
TAE may be an effective and safe therapeutic approach for AC refractory to conservative treatments, alleviating pain and supporting functional recovery. The observed MRI findings suggest that the effectiveness of TAE for AC may be attributed to the reduction of inflammation and the elimination of angiogenesis.
9.Clinical and Radiological Outcomes of Transarterial Embolization for Adhesive Capsulitis
Keng-Wei LIANG ; Hsuan Yin LIN ; Kai-Lan HSU ; Fa-Chuan KUAN ; Chia-Yu GEAN ; Chien-Kuo WANG ; Wei-Ren SU ; Bow WANG
Korean Journal of Radiology 2025;26(3):230-238
Objective:
To assess the effect of transarterial embolization (TAE) for adhesive capsulitis (AC) by evaluating clinical outcomes and changes in inflammation using magnetic resonance imaging (MRI).
Materials and Methods:
Patients who had undergone TAE between August 2020 and August 2023 for AC refractory to conservative treatments without any invasive procedures for more than 3 months, and had undergone baseline and 3-month post-AC follow-up contrast-enhanced MRI evaluations, were included. A suspension mixture of 500 mg imipenem/cilastatin in 10 mL of iodinated contrast agent was used for TAE. MRI results were analyzed to assess periarticular capsule/ligament inflammation. Clinical assessments included pain scores using the numeric rating scale (NRS) and functional scores using the quick disabilities of the arm, shoulder, and hand (Quick DASH) questionnaire.
Results:
Twenty-five patients (female:male, 14:11; age, 54.9 ± 7.1 years) were included. Significant reductions in average NRS pain scores as well as improvements in Quick DASH scores and range of motion, including anterior flexion and abduction, were observed at 1, 3, and 6 months after TAE (all P < 0.001). MRI analyses revealed that TAE significantly decreased the grades of axillary recess capsule enhancement, rotator interval (RI) capsule T2 signal intensity, and RI capsule enhancement (all P ≤ 0.004).
Conclusion
TAE may be an effective and safe therapeutic approach for AC refractory to conservative treatments, alleviating pain and supporting functional recovery. The observed MRI findings suggest that the effectiveness of TAE for AC may be attributed to the reduction of inflammation and the elimination of angiogenesis.
10.Poststroke constipation in the rehabilitation ward: incidence, clinical course and associated factors.
Chun-Ju LIN ; Jen-Wen HUNG ; Chia-Ying CHO ; Chung-Yi TSENG ; Hsuan-Yu CHEN ; Fang-Chia LIN ; Chun-Ying LI
Singapore medical journal 2013;54(11):624-629
INTRODUCTIONConstipation is a common poststroke complication. This study was designed to document the incidence and clinical course of poststroke constipation in a rehabilitation ward, as well as identify the factors independently associated with the condition.
METHODSThis retrospective study involved patients who were admitted to the rehabilitation ward of our institute due to an acute stroke between 1 August 2010 and 31 July 2011. The main outcome measured was the incidence of poststroke constipation, defined as the use of laxative after stroke, fulfilment of the Rome II diagnostic criteria for functional constipation and/or stool impaction. The variables examined were basic demographic data, presence of impairment, degree of disability (evaluated using the Barthel index), walking ability, medications taken and medical complications.
RESULTSOut of the 155 patients who met the inclusion criteria, 123 (79.4%) had poststroke constipation. All 123 patients used oral laxatives; 56 received additional rectal medications and 13 discontinued their use of laxatives at discharge. Patients with poststroke constipation were more likely to have major medical complications (p = 0.04). Those who used rectal medications had a higher risk of major medical complications than those who used only oral laxatives (p < 0.01). Infratentorial lesions were an independent predictor of poststroke constipation (p = 0.003). More severe disability increased the severity of constipation, as indicated by the use of rectal medication.
CONCLUSIONPoststroke constipation is a common complication during inpatient rehabilitation. Healthcare providers should be aware of the incidence of poststroke constipation. Further studies are required to establish standard guidelines for screening and managing bowel function in patients with stroke.
Age Distribution ; Aged ; Aged, 80 and over ; Cohort Studies ; Constipation ; drug therapy ; epidemiology ; etiology ; Female ; Follow-Up Studies ; Humans ; Incidence ; Laxatives ; therapeutic use ; Male ; Middle Aged ; Rehabilitation Centers ; Retrospective Studies ; Risk Assessment ; Severity of Illness Index ; Sex Distribution ; Singapore ; Stroke ; complications ; diagnosis ; Stroke Rehabilitation ; Treatment Outcome