Cyanosis ; diagnosis ; Early Diagnosis ; Echocardiography ; Female ; Heart Defects, Congenital ; diagnosis ; Humans ; Infant, Newborn ; Oxygen ; blood ; Pulmonary Artery ; abnormalities ; Syndrome

Adolescent ; Adult ; Aged ; Blood Glucose ; analysis ; Cross-Over Studies ; Diabetes Mellitus ; blood ; drug therapy ; Female ; Glycated Hemoglobin A ; analysis ; Humans ; Insulin ; analogs & derivatives ; therapeutic use ; Insulin Lispro ; Male ; Middle Aged

BACKGROUND: To determine the frequency of chronic kidney disease (CKD) and its associated risk factors in Chinese type 2 diabetic patients, we conducted a cross-sectional study in Nanjing, China, in the period between January 2008 and December 2009. METHODS: Patients with type 2 diabetes under the care by Jiangsu Province Official Hospital, Nanjing, China were invited for assessment. CKD was defined as the presence of albuminuria or estimated glomerular filtration rate <60 mL/min/1.73 m2. Albuminuria was defined as urinary albumin-to-creatinine ratio > or =30 mg/g. RESULTS: We recruited 1,521 urban Chinese patients with type 2 diabetes (mean age, 63.9+/-12.0 years). The frequency of CKD and albuminuria was 31.0% and 28.9%, respectively. After adjusted by age and sex, hypertension, anemia and duration of diabetes were significantly associated with CKD with odds ratio (95% confidence interval) being 1.93 (1.28 to 2.93), 1.70 (1.09 to 2.64), and 1.03 (1.00 to 1.06), respectively. CONCLUSION: In conclusion, CKD was common in the urban Nanjing Chinese with type 2 diabetes. Strategies to prevent or delay progression of kidney disease in diabetes should be carried out at the early disease course of type 2 diabetes.
Albuminuria ; Anemia ; Asian Continental Ancestry Group ; China ; Cross-Sectional Studies ; Diabetes Mellitus, Type 2 ; Glomerular Filtration Rate ; Humans ; Hypertension ; Kidney Diseases ; Odds Ratio ; Renal Insufficiency, Chronic ; Risk Factors

BACKGROUND/AIMS: The application of glycated hemoglobin (HbA1c) for the diagnosis of diabetes is currently under extensive discussion. In this study, we explored the validity of using HbA1c as a screening and diagnostic test in Chinese subjects recruited in Nanjing, China. METHODS: In total, 497 subjects (361 men and 136 women) with fasting plasma glucose (PG) > or = 5.6 mmol/L were recruited to undergo the oral glucose tolerance test (OGTT) and HbA1c test. Plasma lipid, uric acid, and blood pressure were also measured. RESULTS: Using a receiver operating characteristic curve, the optimal cutoff point of HbA1c related to diabetes diagnosed by the OGTT was 6.3%, with a sensitivity and specificity of 79.6% and 82.2%, respectively, and the area under the curve was 0.87 (95% confidence interval, 0.83 to 0.92). A HbA1c level of 6.5% had a sensitivity and specificity of 62.7% and 93.5%, respectively. When comparing the HbA1c > or = 6.5% or OGTT methods for diagnosing diabetes, the former group had significantly higher HbA1c levels and lower levels of fasting and 2-hour PG than the latter group. No significant difference was observed in the other metabolism indexes between the two groups. CONCLUSIONS: Our results suggest that HbA1c > or = 6.5% has reasonably good specificity for diagnosing diabetes in Chinese subjects, which is in concordance with the American Diabetes Association recommendations.
Aged ; Analysis of Variance ; *Asian Continental Ancestry Group ; Biological Markers/blood ; Blood Glucose/analysis ; China/epidemiology ; *Chromatography, High Pressure Liquid/standards ; *Chromatography, Ion Exchange/standards ; Diabetes Mellitus, Type 2/blood/*diagnosis/ethnology ; Fasting/blood ; Female ; Glucose Tolerance Test/standards ; Hemoglobin A, Glycosylated/*analysis ; Humans ; Male ; Mass Screening/*methods/standards ; Middle Aged ; Predictive Value of Tests ; ROC Curve ; Reference Standards ; Reproducibility of Results ; Sensitivity and Specificity

BACKGROUNDVon Hippel-Lindau (VHL) syndrome is an autosomal dominant familial cancer syndrome predisposing the affected individuals to multiple tumours in various organs. The genetic basis of VHL in Southern Chinese is largely unknown. In this study, we characterized the mutation spectrum of VHL in nine unrelated Southern Chinese families.

METHODSNine probands with clinical features of VHL, two symptomatic and eight asymptomatic family members were included in this study. Prenatal diagnosis was performed twice for one proband. Two probands had only isolated bilateral phaeochromocytoma. The VHL gene was screened for mutations by polymerase chain reaction, direct sequencing and multiplex ligation-dependent probe amplification (MLPA).

RESULTSThe nine probands and the two symptomatic family members carried heterozygous germline mutations. Eight different VHL mutations were identified in the nine probands. One splicing mutation, NM_000551.2: c.463+1G > T, was novel. The other seven VHL mutations, c.233A > G [p.Asn78Ser], c.239G > T [p.Ser80Ile], c.319C > G [p.Arg107Gly], c.481C > T [p.Arg161X], c.482G > A [p.Arg161Gln], c.499C > T [p.Arg167Trp] and an exon 2 deletion, had been previously reported. Three asymptomatic family members were positive for the mutation and the other five tested negative. In prenatal diagnosis, the fetuses were positive for the mutation.

CONCLUSIONSGenetic analysis could accurately confirm VHL syndrome in patients with isolated tumours such as sporadic phaeochromocytoma or epididymal papillary cystadenoma. Mutation detection in asymptomatic family members allows regular tumour surveillance and early intervention to improve their prognosis. DNA-based diagnosis can have an important impact on clinical management for VHL families.

Asian Continental Ancestry Group ; DNA Mutational Analysis ; Humans ; Polymerase Chain Reaction ; Sequence Analysis, DNA ; Von Hippel-Lindau Tumor Suppressor Protein ; genetics ; von Hippel-Lindau Disease ; genetics

PURPOSE: The aim of this study was to validate a computational fluid dynamics (CFD) simulation of flow-diverter treatment through Doppler ultrasonography measurements in patient-specific models of intracranial bifurcation and side-wall aneurysms. METHODS: Computational and physical models of patient-specific bifurcation and sidewall aneurysms were constructed from computed tomography angiography with use of stereolithography, a three-dimensional printing technology. Flow dynamics parameters before and after flow-diverter treatment were measured with pulse-wave and color Doppler ultrasonography, and then compared with CFD simulations. RESULTS: CFD simulations showed drastic flow reduction after flow-diverter treatment in both aneurysms. The mean volume flow rate decreased by 90% and 85% for the bifurcation aneurysm and the side-wall aneurysm, respectively. Velocity contour plots from computer simulations before and after flow diversion closely resembled the patterns obtained by color Doppler ultrasonography. CONCLUSION: The CFD estimation of flow reduction in aneurysms treated with a flow-diverting stent was verified by Doppler ultrasonography in patient-specific phantom models of bifurcation and side-wall aneurysms. The combination of CFD and ultrasonography may constitute a feasible and reliable technique in studying the treatment of intracranial aneurysms with flow-diverting stents.
Aneurysm ; Angiography ; Computer Simulation ; Endovascular Procedures ; Hydrodynamics ; Intracranial Aneurysm* ; Stents ; Ultrasonography ; Ultrasonography, Doppler* ; Ultrasonography, Doppler, Color

Objective: While the low dose short Synacthen® test (LDSST) is considered to be the gold standard to evaluate adrenal function, it is labor-intensive, invasive and inconvenient. The aim of the study is to identify cut-offs for spot serum cortisol for in-patients and morning serum cortisol for out-patients. The study also aims to describe the disease spectrum leading to suspicion of adrenal insufficiency in a Chinese out-patient cohort. Methodology: Adult patients were recruited from a tertiary hospital in Hong Kong. 423 in-patients were included consecutively from July 2013 to December 2013, and 422 out-patients from June 2014 to October 2014. Serum cortisol responses at 0, 20 and 30 minutes were evaluated. Results: For in-patients admitted for acute illness, a spot serum cortisol of ≤92 nmol/L indicated adrenal insufficiency, and a value of ≥494 nmol/L signaled adequate adrenal reserve. The respective morning cortisol values for out-patients who were ambulatory and not under stress were ≤124 nmol/L and ≥428 nmol/L. The percentage of unnecessary LDSST was higher in the in-patient cohort than the out-patient cohort (43% and 37%, respectively). The most common referral for out-patient LDSST was for suspected iatrogenic Cushing’s syndrome (ie: iatrogenic adrenal suppression) from Rheumatology. Conclusions The LDSST is of little added value in in-patients with spot serum cortisol of ≤92 nmol/L or ≥494 nmol/L and out-patients with morning serum cortisol of ≤124 nmol/L or ≥428 nmol/L. Spot and morning cortisol levels, for in and out-patients respectively, should be incorporated into endocrine protocols preceding the LDSST in the workup of adrenal insufficiency
Adrenal Insufficiency