[Clinical phenotypic and genotypic analysis of 5 pediatric patients with ß-ketothiolase deficiency].

Objective: To summarize the clinical and genetic characteristics of children with ß-ketothiolase deficiency (BKTD). Methods: The clinical characteristics, biochemical, markers detected by tandem mass spectrometry (MS/MS) and gas chromatography-mass spectrometry (GC/MS), as well as the variants in ACAT1 gene among 5 children with BKTD in Children's Hospital of Chongqing Medical University between October 2018 and December 2022 were retrospectively analyzed. Results: The onset age of the disease in 5 patients (4 males and 1 female) ranged from 9.7 to 28.0 months. During the acute phase, severe metabolic acidosis was observed with a pH of 6.9-7.1, as well as hypoglycaemia (2.3-3.4 mmol/L) and positive urinary ketone bodies (+-++++). Blood levels of methylcrotonyl carnitine, methylmalonyl carnitine and malonyl carnitine were 0.03-0.42, 0.34-1.43 and 0.83-3.53 µmol/L respectively and were significantly elevated. Urinary 2-methyl-3-hydroxybutyric acid was 22-202 and 3-hydroxybutyric acid was 4-6 066, both were higher than the normal levels. Methylcrotonylglycine was mild elevated (0-29). The metabolites detected by MS/MS and GC/MS were significantly reduced after treatment. Analysis of ACAT1 gene mutation was performed in 5 children. Most variants were missense (8/9). Four previously unreported variants were identified: c.678G>T (p.Trp226Cys), c.302A>G (p.Gln101Arg), c.627_629dupTGA (p.Asn209_Glu210insAsp) and c.316C>T (p.Gln106Ter), the first 2 variants were predicted to be damaging by SIFT, PolyPhen-2 and Mutation Taster software. c.316C>T (p.Gln106Ter) is a nonsense variant. Conclusions: ß-ketothiolase deficiency is relatively rare, lacks specific clinical manifestations, however severe metabolic acidosis, hypoglycemia, and ketosis during the acute onset were consistent findings. Missense mutations in the ACAT1 gene are common genetic causes of ß-ketothiolase deficiency.

[BCS1Neonatal growth retardation and lactic acidosis initiated by novel mutation sites in L gene].

This study aims to analyze the clinical characteristics and genetic variations of two cases with developmental delay and lactic acidosis in a family, and to explore the relationship between genetic variations and clinical features. A retrospective analysis was conducted on the clinical characteristics of two siblings with developmental delay and lactic acidosis who were treated at the Neonatal Department of Children's Hospital of Chongqing Medical University in May 2019 and December 2021, respectively. Whole-exome sequencing was used to detect genetic variations in the affected children. Homology modeling of the BCS1L protein was performed to analyze the structural and functional changes of the protein. The correlation between genetic variations and clinical phenotypes was analyzed. The results showed that the main clinical features of the two affected children in this family were manifestations of mitochondrial respiratory chain complex Ⅲ deficiency, including prematurity, developmental delay, respiratory failure, lactic acidosis, cholestasis, liver dysfunction, renal tubular lesions, coagulation dysfunction, anemia, hypoglycemia, hypotonia, and early death. Whole-exome sequencing revealed a novel deletion mutation c.486_488delGGA (p.E163del) and a novel missense mutation c.992C>T (p.T331I) in the BCS1L gene. Structural analysis of the homology modeling showed that the compound heterozygous mutation had a significant impact on protein function. In conclusion, the novel mutation site c.992C>T (p.T331I) in the BCS1L gene is a "likely pathogenic" mutation, and the compound heterozygous mutation is closely related to the phenotype of mitochondrial respiratory chain complex Ⅲ deficiency.

The relationship between the levels and function of endothelial progenitor cells and factor V Leiden and protein C deficiency in patients with primary Budd-Chiari syndrome.

OBJECTIVE: Budd-Chiari syndrome (BCS) is a life-threatening hepatic disease characterized by hepatic venous obstruction at the level of hepatic vein, hepatic venules, or inferior vena cava. No evidence reported the relationship between the endothelial progenitor cells and the deficiency of factor V Leiden and protein C in patients with primary Budd-Chiari syndrome. PATIENTS AND METHODS: We recruited participants between June 2014 and July 2015. For primary BCS group, 28 patients were collected. 20 patients were included in the NAFLD group. Another 73 healthy participants were recruited into the control group. None of the patients and participants had received interventional therapy or had undergone surgery prior to being recruited. Levels and functions of endothelial progenitor cells (EPCs) were examined. The factor V Leiden mutation, protein C deficiency and protein S deficiency were evaluated. Finally, the relationship between the levels and function of endothelial progenitor cells and factor V Leiden and protein C deficiency in patients with primary Budd-Chiari syndrome was analyzed. RESULTS: The results showed that no significant differences were found between the BCS (and NAFLD) and control group considering age, sex, BMI, smoking (p>0.05 for variables). However, significant differences were observed in TG, TC, HDL-C, white blood cells, hemoglobin, ALT, AST, ALP, γ-GT, total bilirubin, and albumin (p<0.05 for variables). Compared with the healthy participants, significant downregulation was found in BCS and NAFLD patients regarding CD34+/CD45-, late outgrowth endothelial cells (OECs) colonies, OECs proliferation, and OECs tubulogenesis (p<0.001 for variables). Among the 28 BCS patients, factor V Leiden mutation (n=10, 35.71%, OR 12.67, 95% CI 5.24-27.93) and hereditary protein C deficiency (n=4, 14.29%, OR 7.48, 95% CI 2.02-21.43) were more prevalent than those in the control group. These results suggested that factor V Leiden mutation and protein C deficiency were major risk factors for BCS. Finally, we demonstrated that factor V Leiden and protein C deficiency may negatively regulate the OECs levels and functions in BCS patients. CONCLUSIONS: It's important to improve the OECs levels and functions, and to prevent the deficiency of factor V Leiden and protein C in the treatment of BCS.

Histone Acetylation and Plant Development.

Reversible histone acetylation and deacetylation at the N-terminus of histone tails play a crucial role in regulation of gene activity. Hyperacetylation of histones relaxes chromatin structure and is associated with transcriptional activation, whereas hypoacetylation of histones induces chromatin compaction and gene repression. Histone acetylation and deacetylation are catalyzed by histone acetyltransferases (HATs) and histone deacetylases (HDACs), respectively. Emerging evidences revealed that plant HATs and HDACs play essential roles in regulation of gene expression in plant development and plant responses to environmental stresses. Furthermore, HATs and HDACs were shown to interact with various chromatin-remodeling factors and transcription factors involved in transcriptional regulation of multiple developmental processes.

Chain of rings: a radiographic sign of papillary thyroid cancer.

Papillary thyroid cancer is the most common form of thyroid malignancy in children and adult with frequent metastases to the cervical lymph nodes. We present a case of metastatic papillary thyroid cancer with remarkable imaging findings of consecutive metastatic calcified lymph nodes resembling a chain of rings. While accompanying by a coarsely calcified thyroid mass, possible thyroid cancer should be considered and serve as a guide to warrant further thyroid cancer evaluation.

Value of procalcitonin in differentiating pulmonary tuberculosis from other pulmonary infections: a meta-analysis.

OBJECTIVES: To systematically and quantitatively summarise the current evidence on the utility of the procalcitonin test (PCT) in discriminating pulmonary tuberculosis (TB) from other pulmonary infections. METHODS: We searched MEDLINE, EMBASE and the Cochrane database up to August 2013 for studies that reported the performance of PCT alone or compared with other biomarkers in diagnosing pulmonary TB. We summarised PCT using forest plots, hierarchical summary receiver operating characteristic curves and bivariate random effects models. RESULTS: We found nine qualifying studies covering 951 episodes of suspected TB along with 426 confirmed TB cases. The bivariate pooled sensitivity and specificity of PCT to distinguish TB from non-TB were respectively 42% (95%CI 30-56) and 87% (95%CI 63-96). The bivariate pooled sensitivity and specificity for PCT in distinguishing TB from bacterial pneumonia were respectively 78% (95%CI 67-86) and 85% (95%CI 78-90). Low heterogeneity was noted in studies comparing TB with bacterial pneumonia patients. CONCLUSION: The results suggest consistently acceptable sensitivity and specificity of the PCT test in distinguishing TB from bacterial pneumonia. However, given the imperfect sensitivity and specificity of the test, medical decisions should be based on both the PCT test results as well as on clinical findings.

Hepatic necro-inflammation and elevated liver enzymes: evaluation with MRI perfusion imaging with gadoxetic acid in chronic hepatitis patients.

AIM: To evaluate liver necro-inflammation and function by using gadoxetic acid-enhanced dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI), with histological analysis as the reference standard. MATERIALS AND METHODS: Seventy-nine subjects (21 healthy subjects; 58 chronic hepatitis patients) who received gadoxetic acid-enhanced DCE-MRI were divided into three subgroups: no (A0, n = 31), mild (A1, n = 27), and moderate-severe (A2-A3, n = 21) activities. Two DCE-MRI models were measured: (1) a dual-input single-compartment model to obtain absolute arterial, portal venous, and total blood flow, arterial fraction (ART), distribution volume, and mean transit time; (2) a curve analysis method to obtain peak, slope, and AUC (area under curve). The serum alanine aminotransferase (ALT) and aspartate aminotransferase (AST) levels also obtained. Statistical testing included Kruskal-Wallis tests for continuous data, Pearson's correlation tests, and multiple linear regression analyses. RESULTS: Hepatic necro-inflammatory activity grades were significantly correlated with fibrotic stages, serum ALT level, ART and AUC. ART was helpful to predict the mild activity (≤ A1 versus >A1; Az = 0.728), whereas AUC could differentiate no activity from any activity (A0 versus >A0; Az = 0.703). Peak, slope and AUC were all associated with AST and ALT (p < 0.05). CONCLUSION: Gadoxetic acid-enhanced DCE-MRI parameters may be used to evaluate the severity of hepatic necro-inflammation and function.

Curcumin-mediated oxidative stress resistance in Caenorhabditis elegans is modulated by age-1, akt-1, pdk-1, osr-1, unc-43, sek-1, skn-1, sir-2.1, and mev-1.

Abstract Curcumin (diferuloylmethane), a pharmacologically active substance derived from turmeric, exhibits anti-inflammatory, anticarcinogenic, and antioxidant properties. We examined the modulation of oxidative-stress resistance and associated regulatory mechanisms by curcumin in a Caenorhabditis elegans model. Our results showed that curcumin-treated wild-type C. elegans exhibited increased survival during juglone-induced oxidative stress compared with the control treatment. In addition, curcumin reduced the levels of intracellular reactive oxygen species in C. elegans. Moreover, curcumin induced the expression of the gst-4 and hsp-16.2 stress response genes. Lastly, our findings from the mechanistic study in this investigation suggest that the antioxidative effect of curcumin is mediated via regulation of age-1, akt-1, pdk-1, osr-1, unc-43, sek-1, skn-1, sir-2.1, and mev-1. Our study elucidates the diverse modes of action and signaling pathways that underlie the antioxidant activity exhibited by curcumin in vivo.

Systematic review and meta-analysis of the diagnostic accuracy of procalcitonin, C-reactive protein and white blood cell count for suspected acute appendicitis.

BACKGROUND: The aim was to evaluate the diagnostic value of procalcitonin, C-reactive protein (CRP) and white blood cell count (WBC) in uncomplicated or complicated appendicitis by means of a systematic review and meta-analysis. METHODS: The Embase, MEDLINE and Cochrane databases were searched, along with reference lists of relevant articles, without language restriction, to September 2012. Original studies were selected that reported the performance of procalcitonin alone or in combination with CRP or WBC in diagnosing appendicitis. Test performance characteristics were summarized using hierarchical summary receiver operating characteristic (ROC) curves and bivariable random-effects models. RESULTS: Seven qualifying studies (1011 suspected cases, 636 confirmed) from seven countries were identified. Bivariable pooled sensitivity and specificity were 33 (95 per cent confidence interval (c.i.) 21 to 47) and 89 (78 to 95) per cent respectively for procalcitonin, 57 (39 to 73) and 87 (58 to 97) per cent for CRP, and 62 (47 to 74) and 75 (55 to 89) per cent for WBC. ROC curve analysis showed that CRP had the highest accuracy (area under ROC curve 0·75, 95 per cent c.i. 0·71 to 0·78), followed by WBC (0·72, 0·68 to 0·76) and procalcitonin (0·65, 0·61 to 0·69). Procalcitonin was found to be more accurate in diagnosing complicated appendicitis, with a pooled sensitivity of 62 (33 to 84) per cent and specificity of 94 (90 to 96) per cent. CONCLUSION: Procalcitonin has little value in diagnosing acute appendicitis, with lower diagnostic accuracy than CRP and WBC. However, procalcitonin has greater diagnostic value in identifying complicated appendicitis. Given the imperfect accuracy of these three variables, new markers for improving medical decision-making in patients with suspected appendicitis are highly desirable.

Thigh muscle volume predicted by anthropometric measurements and correlated with physical function in the older adults.

OBJECTIVES: (1) to correlate thigh muscle volume measured by magnetic resonance image (MRI) with anthropometric measurements and physical function in elderly subjects; (2) to predict MRI-measured thigh muscle volume using anthropometric measurements and physical functional status in elderly subjects. DESIGN: Cross-sectional, nonrandomized study. SETTING: Outpatient clinic in Taiwan. PARTICIPANTS: Sixty-nine elderly subjects (33 men and 36 women) aged 65 and older. MEASURMENTS: The anthropometric data (including body height, body weight, waist size, and thigh circumference), physical activity and function (including grip strength, bilateral quadriceps muscle power, the up and go test, chair rise, and five meters walk time) and bioelectrical impedance analysis data (including total body fat mass, fat-free mass, and predictive muscle size) were measured. MRI-measured muscle volume of both thighs was used as the reference standard. RESULTS: The MRI-measured thigh volume was positively correlated with all anthropometric data, quadriceps muscle power and the up and go test as well as fat-free mass and predictive muscle mass, whereas it was negatively associated with age and walk time. In predicting thigh muscle volume, the variables of age, gender, body weight, and thigh circumference were significant predictors in the linear regression model: Muscle volume (cm3) =4226.3－42.5 × Age (year)－955.7 × gender (male=1, female=2) + 45.9 × body weight(kg) + 60.0 × thigh circumference (cm) (r2 = 0.745, P < 0.001; standard error of the estimate = 581.6 cm3). CONCLUSION: The current work provides evidence of a strong relationship between thigh muscle volume and physical function in the elderly. We also developed a prediction equation model using anthropometric measurements. This model is a simple and noninvasive method for everyday clinical practice and follow-up.

Effects of fumarate on ruminal ammonia accumulation and fiber digestion in vitro and nutrient utilization in dairy does.

The objective of this study was to evaluate effects of fumarate on ruminal ammonia accumulation and fiber digestion in vitro and on feed intake and nutrient utilization in dairy does. Batch cultures of mixed rumen microorganisms were used to study effects of different concentrations of fumarate on fermentation with various N sources (ammonia as ammonium bicarbonate, casein amino acids, casein peptides, gelatin peptides) and feeds (bermudagrass hay, mixed diet of 60% bermudagrass hay plus 40% concentrate) for 6 and 24h, respectively. Substrates were grouped into pairs for separate incubations. Monosodium fumarate was added to incubation tubes to achieve final concentrations of 0, 5, and 10mM fumarate. More ammonia accumulated at the end of incubation with added ammonium bicarbonate. Ammonia concentration was higher for peptide compared with amino acid incubation, and for casein peptide compared with gelatin peptide. Addition of fumarate linearly decreased ammonia for all N sources and for feed substrates. For all substrate types, fumarate treatment increased acetate, propionate, and total volatile fatty acids (VFA), decreased acetate to propionate ratio, and tended to reduce branched-chain VFA. Digestion of feed neutral detergent fiber (NDF) by rumen microorganisms was improved by fumarate along with elevated endoglucanase and xylanase activities. In an animal metabolism experiment, 8 dairy does (4 per treatment) were used in a completely randomized design for 21 d. Does were fed a hay plus concentrate diet without (control) or with fumarate (6 g/head per day) supplementation to determine feed intake, whole-tract nutrient digestibility, and N utilization. Fumarate treatment did not affect weight change or feed intake but increased whole-tract digestion of gross energy, crude protein, and cellulose. Digested N was increased by fumarate supplementation; however, N retention was unaffected. Plasma glucose concentration was elevated with fumarate but urea N concentration remained unchanged. Fumarate addition had significant effects on rumen microbial fermentation by decreasing ammonia and branched-chain VFA, and by increasing acetate and propionate, and NDF digestion. These effects were reflected in the improvement in whole-tract gross energy, crude protein, and cellulose digestion and elevated plasma glucose concentration when dairy does were supplemented with fumarate.

Unusual manifestations of vertebral osteomyelitis: intraosseous lesions mimicking metastases.

BACKGROUND AND PURPOSE: Vertebral osteomyelitis can have different imaging manifestations. The purpose of this study was to demonstrate the unusual MR imaging patterns of vertebral osteomyelitis with intraosseous lesions mimicking metastases. MATERIALS AND METHODS: From September 2000 to August 2007, 7 patients were selected from our data base of 214 patients with confirmed vertebral osteomyelitis and MR images. All of those having misinterpreted MR imaging reports and unusual imaging patterns were analyzed. The presence of a peripheral curvilinear area of low signal intensity in an osseous lesion (the rim sign) and a peripheral rim of high signal intensity on T2-weighted images around an osseous lesion (the halo sign) was evaluated. Follow-up MR imaging studies were performed in all patients. RESULTS: The patients were 5 men and 2 women, with an age range of 42-80 years. MR imaging findings of those with vertebral osteomyelitis showed a solitary lesion in 2 and multiple lesions in 5 patients. The intraosseous lesions revealed low signal intensity on T1-weighted images, mixed or high signal intensity on T2-weighted images, high signal intensity on short tau inversion recovery images, and global or marginal enhancement. The rim sign was found in 6 (86%) patients; halo sign, in 7 (100%); preserved intervertebral disks, in 7 (100%); and limited paraspinal or epidural inflammation, in 6 (86%). Images of all patients demonstrated healing or almost healed changes on the follow-up MR imaging studies. CONCLUSION: Vertebral osteomyelitis can have MR imaging patterns mimicking osseous metastases. Recognition of these unusual imaging manifestations, together with clinical and histopathologic analysis, may aid in reaching the correct diagnosis.

Childhood obesity, gender, actual-ideal body image discrepancies, and physical self-concept in Hong Kong children: cultural differences in the value of moderation.

Childhood obesity is increasingly prevalent in Western and non-Western societies. The authors related multiple dimensions of physical self-concept to body composition for 763 Chinese children aged 8 to 15 and compared the results with Western research. Compared with Western research, gender differences favoring boys were generally much smaller for physical self-concept and body image. Objective and subjective indexes of body fat were negatively related to many components of physical self-concept, but--in contrast to Western research--were unrelated to global self-esteem and slightly positively related to health self-concept. In support of discrepancy theory, actual-ideal discrepancies in body image were related to physical self-concept. However, consistent with the Chinese cultural value of moderation, and in contrast to Western results, being too thin relative to personal ideals was almost as detrimental as being too fat. The results reflect stronger Chinese cultural values of moderation and acceptance of obesity than in Western culture and have implications for social and educational policy in China.

Cytokine gene polymorphisms in Chinese patients with psoriasis.

BACKGROUND: Previous studies have shown that cytokine gene polymorphisms may confer susceptibility to psoriasis. OBJECTIVES: To determine whether genetic polymorphisms of the cytokine genes might influence the development of psoriasis in Chinese patients in Taiwan. METHODS: DNA samples were obtained from 170 patients with psoriasis vulgaris (PV), 102 patients with psoriatic arthritis (PsA) and 210 control subjects. Using direct sequencing and microsatellite genotyping, we examined 28 polymorphisms in 11 cytokine genes including the interleukin (IL)-1alpha, IL-1beta, IL-1 receptor antagonist, IL-4, IL-8, IL-10, IL-12B, IL-13, tumour necrosis factor (TNF)-alpha, TNF-beta and interferon-gamma genes. Genotypes of HLA-Cw*0602, killer cell immunoglobulin-like receptor (KIR) genes and major histocompatibility complex class I chain-related gene A (MICA) were also determined in patients with PsA. RESULTS: The patients with PV were more likely to carry the +4496G allele of the IL-12B gene (59.4% vs. 49.3%, P = 0.0067, P(c) = 0.033). However, no significantly different allelic and genotypic distributions of the other analysed genes including IL-1beta, TNF-alpha, TNF-beta, KIR genes and MICA were found between the PV/PsA patients and controls. Moreover, no association was observed with disease onset, gender, peripheral arthritis or joint erosion. With regards to HLA-Cw*0602, its allele frequency was significantly increased in patients with early-onset PV (25.3% vs. 4.8%, P < 10(-7)), but not in patients with PsA. CONCLUSIONS: The IL-12B gene polymorphism conferred a risk for PV in our Chinese population, although the effect was more minor than that of HLA-Cw*0602. Cw*0602, KIR2DS1/S2 and MICA-A9 were unlikely to be risk alleles in our patients with PsA. The other analysed genetic polymorphisms of cytokine genes do not appear to be associated with susceptibility to PV and PsA in Chinese patients in Taiwan.

Vertebral osteonecrosis: MR imaging findings and related changes on adjacent levels.

BACKGROUND AND PURPOSE: No prior report has comprehensively discussed the intravertebral vacuum cleft sign and the fluid sign on MR images of vertebral osteonecrosis. The purpose of this study was to investigate MR images of osteonecrotic vertebral bodies and adjacent intervertebral disks and vertebral bodies. METHODS: We retrospectively reviewed MR images of patients with vertebral osteonecrosis. Affected vertebral bodies with osteonecrosis were defined as an avascular area (nonenhanced area on enhanced T1-weighted images) with collections of intravertebral fluid (hyperintense signal on T2-weighted images), air (signal void on all images), or both. The degree of vertebral collapse was classified as mild (>50%) or severe (<50%) preserved vertebral height. Changes in adjacent intervertebral disks or vertebral bodies 2 above and 2 below the affected vertebrae were compared. RESULTS: We enrolled 112 patients (30 men, 82 women; 121 vertebral bodies) in our study. Intravertebral air alone was observed in 48 involved levels (39.7%), intravertebral fluid alone was found in 47 (38.8%), and both coexisted in 26 (21.5%). Degree of vertebral collapse in affected vertebral bodies significantly differed with presence of air or fluid (P < .05). Vertebral compression fractures adjacent to the affected vertebral bodies were more common in those with intravertebral air alone than in those with intravertebral fluid alone (P < .05). CONCLUSION: Vertebral collapse was more advanced and adjacent vertebral compression fractures were more frequent in patients with intravertebral air than in those with intravertebral fluid.

Psoriasis vulgaris in Chinese individuals is associated with PSORS1C3 and CDSN genes.

BACKGROUND: Besides the HLA-Cw*0602 allele, the psoriasis susceptibility 1 candidate 3 (PSORS1C3) and corneodesmosin (CDSN) genes are two probable psoriasis susceptibility genes in the PSORS1 locus. The -79C, -26C and +246A alleles of the PSORS1C3 gene, the CDSN*971T allele, CDSN*TTC (619T-1236T-1243C) and CDSN*5 (619T-1240G-1243C) are strongly associated with psoriasis in the caucasian population. Until now, no haplotype study of the PSORS1C3 and CDSN genes has been documented in Chinese patients with psoriasis vulgaris. OBJECTIVES: We aimed to determine whether genetic polymorphisms of the PSORS1C3 and CDSN genes were associated with an increased risk of psoriasis vulgaris in Chinese patients in Taiwan. METHODS: We investigated the PSORS1C3 and CDSN genes for disease association by direct sequencing in 178 patients with psoriasis vulgaris and 203 control subjects. Genotyping for HLA-Cw*0602, alpha-helix coiled-coil rod homologue (HCR) gene and single nucleotide polymorphism (SNP) n.9 was also carried out using a sequence-based typing method. RESULTS: The PSORS1C3*582A allele, an SNP in the 3'-untranslated region of the PSORS1C3 gene, was a major psoriasis vulgaris susceptibility allele in the Chinese population, and the association was much stronger in patients with early-onset psoriasis vulgaris (22.3% vs. 6.9%, odds ratio = 3.87, P(c) =0.0000072). The frequencies of CDSN*TTC and CDSN*971T were also significantly increased in patients with early-onset psoriasis vulgaris. Moreover, PSORS1C3*582A, SNP n.9*C, Cw*0602 and HCR*WWCC were in near complete linkage disequilibrium (LD) with each other; in contrast, the LD with the CDSN gene was not so strong. SNP n.9*C-Cw*0602-PSORS1C3*582A-HCR*WWCC was a major susceptibility haplotype in patients with early-onset psoriasis vulgaris (P < 10(-7)) and this risk haplotype also carried CDSN*TTC and CDSN*971T. CONCLUSIONS: The PSORS1C3 and CDSN genes are important psoriasis susceptibility genes in Chinese patients with psoriasis vulgaris.

No association of cytokine gene polymorphisms in Chinese patients with atopic dermatitis.

BACKGROUND: Atopic dermatitis (AD) is a common chronically relapsing skin disease associated with the activation of T-helper 2 cells. Recent studies have shown that polymorphisms in the genes for interleukin (IL)-4, the IL-4 receptor, IL-13, and signal transducer and activator 6 (STAT6) may contribute to susceptibility of AD. To date, no cytokine gene polymorphism study has been conducted on Chinese patients with AD. AIMS: To determine whether genetic polymorphisms of the cytokine genes might influence the development of AD. METHODS: DNA samples were obtained from 94 patients and 186 control subjects. Using direct sequencing and microsatellite genotyping, we examined 22 polymorphisms in eight cytokine genes including the genes for IL-4, -10, -12B and -13, the IL-4 receptor, tumour necrosis factor (TNF)-alpha, STAT6, and interferon (IFN)-gamma. RESULTS: No significantly different allelic and genotypic distributions of the cytokine gene polymorphisms could be found between patients and controls. Moreover, no association was observed with disease onset, gender, the presence of elevated serum total IgE level or blood eosinophilia. CONCLUSION: Our study suggests that the analysed genetic polymorphisms of cytokine genes do not appear to be associated with AD susceptibility in our Chinese population.

Cytokine gene polymorphisms in bullous pemphigoid in a Chinese population.

BACKGROUND: Bullous pemphigoid (BP) is an autoimmune bullous disease mostly associated with autoantibodies to the hemidesmosomal BP autoantigens BP180 and BP230. High levels of interleukin (IL)-1beta, IL-4, IL-5, IL-6, IL-8, IL-10, IL-13, tumour necrosis factor (TNF)-alpha and interferon (IFN)-gamma have been detected in skin lesions or sera of patients with BP. Cytokine gene polymorphisms may affect cytokine production and contribute to susceptibility to autoimmune diseases. Until now, no cytokine gene polymorphism study has been conducted on patients with BP. OBJECTIVES: We aimed to determine whether the genetic polymorphisms of the cytokine genes might influence the development of BP. METHODS: DNA samples were obtained from 96 BP patients and 174 control subjects. Using direct sequencing and microsatellite genotyping, we examined 23 polymorphisms in 11 cytokine genes including the IL-1alpha, IL-1beta, IL-1 receptor antagonist, IL-4, IL-6, IL-8, IL-10, IL-13, IL-4 receptor, TNF-alpha and IFN-gamma genes. RESULTS: Although the BP patients were more likely to carry the -511T and -31C alleles of the IL-1beta gene (P = 0.04), the significance disappeared after correction for multiple testing (Pc). There was complete linkage disequilibrium between the -511T and -31C alleles of the IL-1beta gene. In female patients with BP, the associations with IL-1beta (-511T) and (-31C) alleles were much stronger (68% vs. 40.6%, odds ratio = 3.11, Pc = 0.006). No significantly different allelic and genotypic distributions of other cytokine gene polymorphisms could be found between the patients with BP and controls. Moreover, no association with the extent of disease involvement (localized or generalized) was observed. CONCLUSIONS: The IL-1beta (-511) and (-31) polymorphisms were significantly associated with BP in women. The other genetic polymorphisms of cytokine genes that we analysed do not appear to be associated with BP susceptibility in our Chinese population.

Self-perception of physical competences in preadolescent overweight Chinese children.

OBJECTIVE: To compare self-perceptions of physical competences in overweight and in normal weight preadolescent Chinese children. DESIGN: Cross-sectional study. SETTING: Three primary schools and a university hospital in Hong Kong. SUBJECTS: A total of 634 children, comprising 558 (462 normal weight, 96 overweight) aged 8-12 y randomly sampled from three primary schools, and 76 similar age overweight children recruited from the community for a diet and exercise intervention programme. MEASUREMENTS: Height, weight and percentage body fat were measured. Self-perceptions of physical competences were determined by Physical Self-Descriptive Questionnaire (PSDQ). Corresponding actual physical competences were measured by physical fitness tests. RESULTS: Overweight children perceived themselves to have significantly more body fat than normal weight children, with poorer appearance, sports competence, endurance, coordination, flexibility, overall physical self-concept and self-esteem, but to be no less healthy, no less physically active and no less strong. Overweight children performed less well than normal weight children in measures of endurance, coordination and flexibility but better in strength. Poor self-perception of physical competences appeared only partly related to deficiencies in actual physical competences. CONCLUSION: Overweight children have poorer self-perception of their physical competences but do not perceive themselves to be less strong, healthy or physically active than normal weight children. Exercise programmes for overweight children could be more effective if designed with the knowledge of these self-perceptions.