Normal values for morphological abnormalities in school children

Clinical morphology has proven to be a strong tool in the delineation of many syndromes and a helpful instrument in molecular studies. Numerous studies have been performed investigating the prevalence of minor anomalies in various disorders; all concluding that minor anomalies can well be utilized as indicators of altered embryonic differentiation. However, for adequate evaluation, normal values for phenotypic abnormalities are essential. So far, only few studies on the frequency of phenotypic abnormalities in the normal population have been done having one thing in common: all were performed in newborn infants. We studied morphological characteristics in a group of 1,007 school children, representative for the Dutch population, through a body surface examination using detailed definitions for all morphological findings. The region of study and distribution of children over various school types was chosen in such a way that it represented the general Dutch population. The median age of the studied children was 11 years (range 8-14 years), sex ratio (M:F) was 0.93. Nine hundred twenty-three children were of Caucasian descent, 84 others of mixed ethnic backgrounds. The reliability of the examinations was tested by independent scoring of 111 children by two observers, showing a kappa score of 0.85. Normal values for the morphological findings are presented together with their age-adjusted classification. These normal values provide a valuable source for validation of classifications of phenotypic abnormalities, especially those that are depending on frequency, that is, minor anomalies and common variants. Furthermore, they will allow a proper evaluation of patterns of phenotypic abnormalities found in patient groups with specific disorders.     

Effect of mirtazapine treatment on body composition and metabolism

OBJECTIVE: Weight gain is a common side effect of psychotropic medications. Mirtazapine, a widely used antidepressant, induces adverse metabolic effects such as an increase in body weight. The aim of this study was to investigate the influence of mirtazapine treatment on body weight, body fat mass, glucose metabolism, lipoprotein profile, and leptin and its soluble receptor in a prospective, controlled study design. METHOD: Seven women who met the ICD-10 diagnostic criteria for a depressive episode (ICD-10: F31-F33) were assigned to monotherapy with mirtazapine and observed for a 6-week period. Seven mentally and physically healthy female volunteers matched for age and body weight served as a control group. Data were collected from November 2002 to December 2003. RESULTS: The mean +/- SD body weight increased from 63.6 +/- 13.1 kg to 66.6 +/- 11.9 kg during mirtazapine treatment (p = .027). Fat mass increased in study subjects from 20.9 +/- 9.6 kg to 22.1 +/- 9.3 kg (p = .018). Insulin, glucose, and the homeostasis model assessment (HOMA) index for insulin resistance and lipid parameters remained stable. Leptin concentrations increased from 23.0 +/- 17.1 ng/mL to 40.9 +/- 27.2 ng/mL (p = .018), whereas the soluble leptin receptor concentrations remained stable during mirtazapine treatment. In the control subjects, the investigated parameters remained stable. Between-group analyses of change scores revealed significant differences for body weight (p = .010), body mass index (p = .013), fat mass (p = .035), and leptin (p = .013). CONCLUSION: The antidepressant therapy with mirtazapine was associated with a significant increase in body weight, body fat mass, and leptin concentration. In contrast to other psychotropic medications inducing weight gain, such as some second-generation antipsychotics, mirtazapine treatment did not influence the glucose homeostasis.     

Estrogen sulfotransferase (SULT1E1) expression in benign and malignant human bone tumors

BACKGROUND AND OBJECTIVES: 17beta-estradiol regulates growth and differentiation in normal and malignant bone. E2 is inactivated to 17beta-estradiol-sulfate through estrogen sulfotransferase (SULT1E1). RESULTS: In an explorative study, SULT1E1 mRNA expression was assessed in a broad range of samples from benign, primary and secondary malignant bone tumors. We detected SULT1E1 mRNA in 31/50 tumor samples (10/19 malignant, 6/13 benign tumors; 15/18 metastases). Significantly more SULT1E1-positive samples were found in metastases than in primary bone tumors (P = 0.019). Yet, there was no difference between malignant and benign primary tumors (P = 0.718). SULT1E1 mRNA levels were not related to patients' age, gender, tumor location, stage, grading, and chemotherapy pretreatment. Relative SULT1E1 mRNA levels did not correlate with that of estrogen-receptor alpha (ERalpha) as assessed by quantitative TaqMan PCR (10 malignant, 8 benign tissue samples). In the latter, ERalpha mRNA, but not SULT1E1 mRNA levels were significantly lower than in the malignant samples (P = 0.006 and P = 0.71, respectively). Also, pronounced expression of SULT1E1 mRNA but not of ERalpha mRNA was observed in osteosarcoma (MG-63, HOS) and Ewing's sarcoma (TC-71) cells, while human osteoblasts and BMSC contained ERalpha but not SULT1E1 mRNA. CONCLUSION: Frequent expression of SULT1E1 mRNA in various human bone tumors suggests that sulfonation might be important to control E2 levels and activity.     

Severe Soft Tissue Infection Caused by a Non-Beta-Hemolytic Streptococcus pyogenes Strain Harboring a Premature Stop Mutation in the sagC Gene

We recovered a non-beta-hemolytic Streptococcus pyogenes strain from a severe soft tissue infection. In this isolate, we detected a premature stop codon within the sagC gene of the streptolysin S (SLS) biosynthetic operon. Reintroduction of full-length sagC gene on a plasmid vector restored the beta-hemolytic phenotype to our clinical isolate, indicating that the point mutation in sagC accounted for loss of hemolytic activity. To the best of our knowledge, this is the first report to demonstrate that a severe soft tissue infection can be caused by a non-beta-hemolytic S. pyogenes strain lacking a functional SagC.     

Univariate Risk Factors for Prolonged Mechanical Ventilation in Patients Undergoing Prosthetic Heart Valves Replacement Surgery

~~Univariate Risk Factors for Prolonged Mechanical Ventilation in Patients Undergoing Prosthetic Heart Valves Replacement Surgery@Ommari Baaliy Mkangara$Department of Cardiovascular Surgery,Union Hospital,Tongji Medical College,Huazhong University of Science and Technology! Wuhan 430030,China @张凯伦$Department of Cardiovascular Surgery,Union Hospital,Tongji Medical College,Huazhong University of Science and Technology!Wuhan 430030,China @杨运海$Department of Cardiovascula…