Myelodysplastic syndromes have increased in frequency and incidence in the American population, but patient prognosis has not significantly improved over the last decade. Such improvements could be realized if biomarkers for accurate diagnosis and prognostic stratification were successfully identified. In this study, we propose a method that associates two state-of-the-art array technologies--single nucleotide polymor-phism(SNP) array and gene expression array--with gene motifs considered transcription factor-binding sites (TFBS). We are particularly interested in SNP-containing motifs introduced by genetic variation and mutation as TFBS. The potential regulation of SNP-containing motifs affects only when certain mutations occur. These motifs can be identified from a group of co-expressed genes with copy number variation. Then, we used a sliding window to identify motif candidates near SNPs on gene sequences. The candidates were filtered by coarse thresholding and fine statistical testing. Using the regression-based LARS-EN algorithm and a level-wise sequence combination procedure, we identified 28 SNP-containing motifs as candidate TFBS. We confirmed 21 of the 28 motifs with ChIP-chip fragments in the TRANSFAC database. Another six motifs were validated by TRANSFAC via searching binding fragments on co-regulated genes. The identified motifs and their location genes can be considered potential biomarkers for myelodysplastic syndromes. Thus, our proposed method, a novel strategy for associating two data categories, is capable of integrating information from different sources to identify reliable candidate regulatory SNP-containing motifs introduced by genetic variation and mutation.
Algorithms ; Binding Sites ; DNA Copy Number Variations ; Databases, Genetic ; Gene Expression Profiling ; Genes, Regulator ; Genotype ; Humans ; Myelodysplastic Syndromes ; genetics ; Oligonucleotide Array Sequence Analysis ; methods ; Polymorphism, Single Nucleotide ; genetics ; Transcription Factors ; genetics

Mucinous tubular and spindle cell carcinoma (MTSCC) is a rare type of kidney tumor that has only been recently described. Furthermore, a case of MTSCC associated with a simultaneous lung cancer in the same patient has never been reported in the literature. In this paper, we describe a kidney tumor that was detected during staging work-up in a 72-year-old lung cancer patient. The kidney tumor was removed and shown to exhibit histological and immunophenotypic features of MTSCC, completely distinct from the pulmonary adenocarcinoma. In addition, this case was unique because it was characterized by neuroendocrine differentiation as well as p53 and Ki-67 overexpression in tumor cells. Therefore, we report a case of MTSCC diagnosed in a patient with pulmonary adenocarcinoma and describe the detailed histologic and immunohistochemical features of MTSCC.
Adenocarcinoma ; Lung Neoplasms

Sjögren's syndrome (SS) is an autoimmune disease that presents with exocrine gland dysfunction. Renal involvement is common in SS and often results in tubulointerstitial nephritis, renal tubular acidosis, and Fanconi’s syndrome. Electrolyte imbalances are commonly the first symptom of renal involvement of SS. The most common feature of dysnatremia in SS is hypernatremia with diabetes insipidus. However, cases of hyponatremia with syndrome of inappropriate antidiuretic hormone secretion (SIADH) are rarely reported in patients with SS. Herein, we report a case of recurrent severe SIADH in a patient with SS.

Sjögren's syndrome (SS) is an autoimmune disease that presents with exocrine gland dysfunction. Renal involvement is common in SS and often results in tubulointerstitial nephritis, renal tubular acidosis, and Fanconi’s syndrome. Electrolyte imbalances are commonly the first symptom of renal involvement of SS. The most common feature of dysnatremia in SS is hypernatremia with diabetes insipidus. However, cases of hyponatremia with syndrome of inappropriate antidiuretic hormone secretion (SIADH) are rarely reported in patients with SS. Herein, we report a case of recurrent severe SIADH in a patient with SS.

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

BACKGROUND/AIMS: Gout is associated with metabolic disorders that are important risk factors for cardiovascular disease and erectile dysfunction (ED). We aimed to identify independent predictors of ED in patients with gout. METHODS: From August 2014 to August 2015, male outpatients who were being treated for gout in our rheumatology clinic and healthy males without any history of inflammatory disease (control group) were studied. ED was assessed in participants using the five-item version of the International Index of Erectile Function questionnaire. Insulin resistance (IR) was estimated using the homeostatic model assessment (HOMA-IR). Logistic regression analysis was performed to determine the effect of variables on ED risk in all of the study subjects and in patients with gout. RESULTS: We analyzed 80 patients with gout and 70 healthy controls. The median age of patients with gout was 52 years and median disease duration was 120 months. Gout patients were more likely to have ED than controls (55.3% vs. 41.4%, p < 0.047). After adjustment for confounding factors, only HOMA-IR was significantly associated with ED (odds ratio [OR], 1.82; 95% confidence interval [CI], 1.05 to 3.15). Gout patients with ED were more likely to be older (p < 0.001), have higher HOMA-IR (p = 0.048), and have lower glomerular filtration rate (p = 0.038) than those without ED. Multivariate logistic regression analysis showed that HOMA-IR was an independent predictor for ED (OR, 1.62; 95% CI, 1.03 to 2.82) in gout patients. CONCLUSIONS: IR is an independent predictor of ED in patients with gout.
Arthritis, Gouty ; Cardiovascular Diseases ; Erectile Dysfunction* ; Glomerular Filtration Rate ; Gout* ; Humans ; Insulin Resistance* ; Insulin* ; Logistic Models ; Male ; Outpatients ; Rheumatology ; Risk Factors

Malnutrition is a common occurrence during cancer treatment among pediatric cancer patients and without proper care, it can bring negative implications. The purpose of this study was to develop a printed educational material titled “Penjagaan Pemakanan untuk Penjaga Kanser Kanak-Kanak” (Nutrition Care for Children with Cancer) to help the caregivers to manage their child in terms of nutrition. The objective of this study was to evaluate caregiver’s knowledge, attitude and practice (KAP) before and after receiving the printed educational material and to evaluate the acceptance of the printed educational material among caregiver. This quantitative study (Quasi-Experiment) was conducted among pediatric oncology caregivers in Institute of Pediatrics Hospital Kuala Lumpur (IPHKL)(n=34) and Universiti Kebangsaan Malaysia Medical Center (UKMMC)(n=34). IPHKL served as the experimental group where the caregivers received the developed booklet meanwhile UKMMC served as the control group where the caregivers received a pamphlet published by Institut Kanser Negara titled “Terapi Diet Pesakit Kanser – Kesan Sampingan Rawatan dan Cara Mengatasinya” (Nutrition Care for Cancer – How to Overcome the Side Effects of the Treatment). Results from this study showed that there was a significant increase (p<0.05) for KAP of the caregivers in both groups with a higher increase was seen in the experimental group. The score for KAP in the experimental group was (70 ± 8%) and after receiving the printed educational material, the score significantly increased to (92 ± 10%) which was higher compared to control group where their score before was (70 ± 11%) and increased to (77 ± 10%). For the evaluation of acceptance, there was a significant difference (p<0.05) for the mean score between experimental group (48.85 ± 4.931) and control (42.29 ± 6.834) with t= 4.538. In conclusion, the printed educational material developed from this study was well accepted and has the potential to effectively increase caregivers’ nutritional knowledge of managing the nutritional aspect of pediatric cancer patients during treatment. This could improve their nutritional status for a better clinical outcome.

INTRODUCTIONThis study aimed to describe the demographic, social, developmental and behavioural profile of children hospitalised for alleged child maltreatment syndrome (CMS).

METHODSThis study was a retrospective review of the consecutive inpatient records of children (0-16 years) admitted to the National University Hospital, Singapore, for alleged CMS over a three-year period. Descriptive data on the demographic characteristics, alleged maltreatment, medical and developmental histories, and family background of these children were collected and analysed. Chi-square statistics were used to test whether family factors were associated with the type of maltreatment and the presence of developmental disorders.

RESULTSA total of 89 children, who accounted for 90 admission cases, were studied. Physical abuse (70.0%) was the most common, followed by neglect (11.1%) and sexual abuse (7.8%). Child protection services had already been involved in 29.2% of the cases prior to the child's admission. Children who were victims of abuse were more likely to come from homes with a prior history of domestic violence (p = 0.028). Financial difficulty was found to be a risk factor for neglect (p = 0.005). Among the 89 children, 15.7% were found to have developmental disorders and 10.1% had mental health diagnoses. Children who had developmental disorders were more likely to have a parent with a mental health disorder (p = 0.002).

CONCLUSIONA sizeable proportion of the children admitted for alleged CMS had developmental or behavioural disorders. Clinicians have a role in ensuring that these children have appropriate follow-up plans. Children from high-risk families should be screened for maltreatment.

Adolescent ; Child ; Child Abuse ; statistics & numerical data ; Child, Abandoned ; statistics & numerical data ; Child, Institutionalized ; statistics & numerical data ; Child, Orphaned ; statistics & numerical data ; Child, Preschool ; Developmental Disabilities ; epidemiology ; etiology ; Female ; Follow-Up Studies ; Humans ; Infant ; Infant, Newborn ; Inpatients ; statistics & numerical data ; Male ; Poverty ; Prevalence ; Retrospective Studies ; Risk Factors ; Singapore ; epidemiology

Background: Patient-centered management is becoming increasingly important in gout, but there are limited studies exploring patients' perspectives and preferences. We aimed to investigate patients' perspectives and preferences regarding gout and gout management, and their impacts on adherence to urate lowering therapy (ULT). Methods: A paper-based survey was performed in patients with gout seen at the rheumatology outpatient clinics of 16 tertiary hospitals. The survey included questions regarding demographics, comorbidities, gout attacks, current treatment and adherence, and patients' perspectives and preferences regarding gout and gout management. Multivariate regression analysis was performed to determine the factors associated with ULT adherence. Results: Of 809 surveyed patients with gout, 755 (94.5%) were using ULT. Among those using ULT, 89.1% had ≥ 80% adherence to ULT. Majority of the patients knew management strategies to some extent (94.8%), perceived gout as a life-long disease (91.2%), and were making efforts toward practicing at least one lifestyle modification (89.2%). Most patients (71.9%) obtained information about gout management during their clinic visits.Approximately half of the patients (53.6%) preferred managing their disease with both ULT and lifestyle modification, 28.4% preferred ULT only, and 17.4% preferred lifestyle modification only. Adherence was better in patients with older age (odds ratio [OR], 1.03), those with better knowledge of gout management strategies (OR, 3.56), and those who had preference for ULT (OR, 2.07). Conclusion Patients' perspectives and management preferences had high impacts on adherence to ULT in gout. Consideration of patients' perspectives and preferences is important for achieving the desired clinical outcome in gout.