1.Delayed diagnosis of 22q11.2 deletion syndrome in an adult Chinese lady.
Yat-Fung SHEA ; Chi-Ho LEE ; Harinder GILL ; Wing-Sun CHOW ; Yui-Ming LAM ; Ho-Ming LUK ; Stephen Tak-Sum LAM ; Leung-Wing CHU
Chinese Medical Journal 2012;125(16):2945-2947
We report a 32 year-old Chinese lady with history of tetralogy of Fallot, presented to us with chest pain due to hypocalcemia secondary to hypoparathyroidism. With her dysmorphic facial features and intellectual disability 22q11.2 deletion was suspected and confirmed by genetic study. Clinicians should consider the diagnosis of DiGeorge syndrome in adult patient with past medical history of congenital heart disease, facial dysmorphism, intellectual disability and primary hypoparathyroidism.
Adult
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Delayed Diagnosis
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DiGeorge Syndrome
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diagnosis
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genetics
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Female
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Humans
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Hypocalcemia
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diagnosis
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genetics
2.The Risk of Upper Urinary Tract Involvement in Patients With Ketamine-Associated Uropathy.
Chi Hang YEE ; Jeremy Yuen Chun TEOH ; Pui Tak LAI ; Vivian Yee Fong LEUNG ; Winnie Chiu Wing CHU ; Wai man LEE ; Yuk Him TAM ; Chi Fai NG
International Neurourology Journal 2017;21(2):128-132
PURPOSE: The aims of this study were to investigate the prevalence of upper tract involvement in ketamine-associated uropathy, and to determine the predictors of hydronephrosis in patients with a history of ketamine abuse. METHODS: This was a cross-sectional study of a prospective cohort of patients with ketamine-associated uropathy. Data including demographics, pattern of ketamine abuse, pelvic pain and urgency or frequency (PUF) symptom score, uroflowmetry (UFM) parameters, serum renal function, and liver function tests were collected. Upon consultation, ultrasonography was performed to assess the function of the urinary system. RESULTS: From December 2011 to October 2015, we treated 572 patients with ketamine-associated uropathy. Of these patients, 207 (36.2%) had managed to achieve abstinence at the time of their first consultation. Ninety-six patients (16.8%) in the cohort were found to have hydronephrosis on ultrasonography. Univariate analysis identified age, duration of ketamine abuse, PUF symptom score, voided volume on UFM, serum creatinine levels >100 μmol/L, and an abnormal serum liver enzyme profile as factors associated with hydronephrosis. Logistic regression revealed the following parameters to be statistically related to hydronephrosis: age (adjusted odds ratio [OR], 1.090; 95% confidence interval [CI], 1.020–1.166; P=0.012), functional bladder capacity (adjusted OR, 0.997; 95% CI, 0.995–0.999; P=0.029), serum creatinine >100 μmol/L (adjusted OR, 3.107; 95% CI, 1.238–7.794; P=0.016, and an abnormal serum liver enzyme profile (adjusted OR, 1.967; 95% CI, 1.213–3.187; P=0.006). CONCLUSIONS: Ketamine-associated uropathy can involve the upper urinary tract. Patient demographics as well as investigations of UFM, renal function tests, and liver function tests may allow us to identify at-risk patients.
Cohort Studies
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Creatinine
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Cross-Sectional Studies
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Cystitis
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Demography
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Humans
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Hydronephrosis
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Ketamine
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Liver
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Liver Function Tests
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Logistic Models
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Lower Urinary Tract Symptoms
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Odds Ratio
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Pelvic Pain
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Prevalence
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Prospective Studies
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Ultrasonography
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Urinary Bladder
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Urinary Tract*
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Urination Disorders
3.Discontinuation Rate of Newly Prescribed Donepezil in Alzheimer’s Disease Patients in Asia
Kee Hyung PARK ; YoungSoon YANG ; Christopher CHEN ; Yong S. SHIM ; Jacqueline C. DOMINGUEZ ; Chan-Nyoung LEE ; Kyunghun KANG ; Hee-Jin KIM ; Seul-Ki JEONG ; Jee Hyang JEONG ; Zhen HONG ; Soo Jin YOON ; Zhen-Xin ZHANG ; Eun-Joo KIM ; Jae-Won JANG ; Yansheng LI ; Yun XU ; Yu-Te LIN ; Qiumin QU ; Chaur-Jong HU ; Chih-Ho CHOU ; Dongsheng FAN ; Nagaendran KANDIAH ; Yuan-Han YANG ; Chi-ieong LAU ; Leung-Wing CHU ; Huali WANG ; San JUNG ; Seong Hye CHOI ; SangYun KIM
Journal of Clinical Neurology 2021;17(3):376-384
Background:
and Purpose The rate of donepezil discontinuation and the underlying reasons for discontinuation in Asian patients with Alzheimer’s disease (AD) are currently unknown. We aimed to determine the treatment discontinuation rates in AD patients who had newly been prescribed donepezil in routine clinical practice in Asia.
Methods:
This 1-year observational study involved 38 institutions in seven Asian countries, and it evaluated 398 participants aged 50–90 years with a diagnosis of probable AD and on newly prescribed donepezil monotherapy. The primary endpoint was the rate of donepezil discontinuation over 1 year. Secondary endpoints included the reason for discontinuation,treatment duration, changes in cognitive function over the 1-year study period, and compliance as assessed using a clinician rating scale (CRS) and visual analog scale (VAS).
Results:
Donepezil was discontinued in 83 (20.9%) patients, most commonly due to an adverse event (43.4%). The mean treatment duration was 103.67 days in patients who discontinued. Among patients whose cognitive function was assessed at baseline and 1 year, there were no significant changes in scores on the Mini-Mental State Examination, Montreal Cognitive Assessment, and Trail-Making Test–Black and White scores, whereas the Clinical Dementia Rating score increased significantly (p<0.001). Treatment compliance at 1 year was 96.8% (306/316) on the CRS and 92.6±14.1% (mean±standard deviation) on the VAS.
Conclusions
In patients on newly prescribed donepezil, the primary reason for discontinuation was an adverse event. Cognitive assessments revealed no significant worsening at 1 year, indicating that continuous donepezil treatment contributes to the maintenance of cognitive function.
4.Discontinuation Rate of Newly Prescribed Donepezil in Alzheimer’s Disease Patients in Asia
Kee Hyung PARK ; YoungSoon YANG ; Christopher CHEN ; Yong S. SHIM ; Jacqueline C. DOMINGUEZ ; Chan-Nyoung LEE ; Kyunghun KANG ; Hee-Jin KIM ; Seul-Ki JEONG ; Jee Hyang JEONG ; Zhen HONG ; Soo Jin YOON ; Zhen-Xin ZHANG ; Eun-Joo KIM ; Jae-Won JANG ; Yansheng LI ; Yun XU ; Yu-Te LIN ; Qiumin QU ; Chaur-Jong HU ; Chih-Ho CHOU ; Dongsheng FAN ; Nagaendran KANDIAH ; Yuan-Han YANG ; Chi-ieong LAU ; Leung-Wing CHU ; Huali WANG ; San JUNG ; Seong Hye CHOI ; SangYun KIM
Journal of Clinical Neurology 2021;17(3):376-384
Background:
and Purpose The rate of donepezil discontinuation and the underlying reasons for discontinuation in Asian patients with Alzheimer’s disease (AD) are currently unknown. We aimed to determine the treatment discontinuation rates in AD patients who had newly been prescribed donepezil in routine clinical practice in Asia.
Methods:
This 1-year observational study involved 38 institutions in seven Asian countries, and it evaluated 398 participants aged 50–90 years with a diagnosis of probable AD and on newly prescribed donepezil monotherapy. The primary endpoint was the rate of donepezil discontinuation over 1 year. Secondary endpoints included the reason for discontinuation,treatment duration, changes in cognitive function over the 1-year study period, and compliance as assessed using a clinician rating scale (CRS) and visual analog scale (VAS).
Results:
Donepezil was discontinued in 83 (20.9%) patients, most commonly due to an adverse event (43.4%). The mean treatment duration was 103.67 days in patients who discontinued. Among patients whose cognitive function was assessed at baseline and 1 year, there were no significant changes in scores on the Mini-Mental State Examination, Montreal Cognitive Assessment, and Trail-Making Test–Black and White scores, whereas the Clinical Dementia Rating score increased significantly (p<0.001). Treatment compliance at 1 year was 96.8% (306/316) on the CRS and 92.6±14.1% (mean±standard deviation) on the VAS.
Conclusions
In patients on newly prescribed donepezil, the primary reason for discontinuation was an adverse event. Cognitive assessments revealed no significant worsening at 1 year, indicating that continuous donepezil treatment contributes to the maintenance of cognitive function.