Fetal facial profile in Pallister-Killian syndrome

Pallister-Killian syndrome (PKS) is a sporadic chromosomal anomaly, caused by a tissue-specific mosaic distribution of an additional isochromosome 12p. About 60 cases of prenatal diagnosis of PKS have been reported. Only 1 case of PKS is described on the basis of prenatal screening, presenting increased nuchal translucency. An abnormal fetal facial profile is described prenatally as sonographic evidence of PKS. We report a case of prenatal diagnosis in a fetus undergoing second-level scan due to positive triple screen with ultrasound features of PKS.     

Beitrag zum Studium der festen Tridermome des Eierstockes

Ohne Zusammenfassung     

PIMGAVir and Vir-MinION: Two Viral Metagenomic Pipelines for Complete Baseline Analysis of 2nd and 3rd Generation Data

The taxonomic classification of viral sequences is frequently used for the rapid identification of pathogens, which is a key point for when a viral outbreak occurs. Both Oxford Nanopore Technologies (ONT) MinION and the Illumina (NGS) technology provide efficient methods to detect viral pathogens. Despite the availability of many strategies and software, matching them can be a very tedious and time-consuming task. As a result, we developed PIMGAVir and Vir-MinION, two metagenomics pipelines that automatically provide the user with a complete baseline analysis. The PIMGAVir and Vir-MinION pipelines work on 2nd and 3rd generation data, respectively, and provide the user with a taxonomic classification of the reads through three strategies: assembly-based, read-based, and clustering-based. The pipelines supply the scientist with comprehensive results in graphical and textual format for future analyses. Finally, the pipelines equip the user with a stand-alone platform with dedicated and various viral databases, which is a requirement for working in field conditions without internet connection.     

Association of the Dietary Inflammatory Index with Depressive Symptoms among Pre- and Post-Menopausal Women: Findings from the National Health and Nutrition Examination Survey (NHANES) 2005–2010

During their lifetime, 20% of US women experience depression. Studies have indicated that a high Dietary Inflammatory Index (DII) score is associated with high C-reactive protein (CRP) levels and depression. No previous study has compared the association of the DII with different measures of depression (e.g., somatic, cognitive) among pre- and post-menopausal women. We used data from 2512 pre-menopausal and 2392 post-menopausal women from the National Health and Nutrition Examination Survey (NHANES) 2005–2010 database. We ran linear and logistic regression models to compare the association of the DII with survey-measured depression among pre- and post-menopausal women. We further assessed the mediation effect of CRP on the association of the DII and depression, using structural equation modeling. The odds of experiencing depression among pre-menopausal women was higher for all DII quartiles compared to the reference group (i.e., DII Q1), with an odds ratio (OR) of 3.2, 5.0, and 6.3 for Q2, Q3, and Q4, respectively (p < 0.05). Among post-menopausal women, only Q4 had 110% higher odds of experiencing depression compared to Q1 (p = 0.027). No mediation effect of CRP was found between DII and any of our depression outcome measures. Our findings suggest that lifestyle habits, such as diet, may have a stronger influence on mental health among pre-menopausal women than post-menopausal women.     

Practical guidelines for dose individualization of anticancer targeted drugs

For drugs such as anticancer agents every effort should be made to minimize inter-patient variability in drug exposure in order to maximize the benefit while maintaining an acceptable risk level of serious adverse effects. Anticancer drugs generally have a preferential route of elimination, either in urine or in bile and feces. In consequence, dose individualization to renal and liver function permits excessive toxicity to be avoided and expected therapeutic benefit to be achieved. However, less is known about the most appropriate starting doses of antineoplastic agents in these individuals. In this review, we discuss trials that have specifically assessed new targeted agents dosing strategies (mainly monoclonal antibodies and tyrosine kinase inhibitors) in the setting of overt biochemical renal and liver dysfunction and we proportionate recommendations and practical guidelines for dose individualization.     

Effects of Long-Term Administration of Methotrexate on Bone Mineral Density in Rheumatoid Arthritis

Because previous studies of high-dose methotrexate usage have demonstrated an effect on bone formation and resorption, this study was done to determine whether long-term, low-dose use of methotrexate for the treatment of rheumatoid arthritis causes bone loss. Bone mineral density (BMD) of the lumbar spine and hip was measured in 10 Caucasian postmenopausal women who had never received methotrexate and 10 Caucasian postmenopausal women who had received the drug for 3 or more years. There were no significant differences in BMD at the lumbar spine (L2–L4) between patients who had used long-term methotrexate compared with patients never treated with methotrexate (1.08 ± 0.08 g/cm² versus 0.98 ± 0.14 g/cm², respectively; P= 0.08). Similarly, there were no significant differences in BMD at the femoral neck between methotrexate users and nonusers (0.81 ± 0.08 g/cm² versus 0.76 ± 0.15 g/cm², respectively; P= 0.42). These results suggest that long-term low-dose methotrexate treatment for rheumatoid arthritis is not associated with accelerated bone loss. Received: 16 October 1997 / Accepted: 9 July 1998     

The Role of Collagen Abnormalities in Ultrasound and Densitometry Assessment: In Vivo Evidence

There is little information concerning how the mutation of collagen affects bone mineralization and the assessment of bone properties. To estimate these influences, we performed ultrasonic assessments of the calcaneus and bone mineral density (BMD) measurements of the hip and lumbar spine. Females with diseases related to the mutation of collagen [Ehlers-Danlos syndrome (EDS) type III and systemic sclerosis (SSc)] participated in this study. We compared the broadband ultrasound attenuation (BUA and UBI-4), the average transit time through the heel (TTH), and a multiple factor index (UBI-4T) with control subjects matched on age, race, and menstrual status. Both groups of patients had BMD of the spine (L2–L4) within the normal range for their age and sex (for EDS: n = 23, 1.14 ± 0.14 g/cm² and z-score = 0.37; for SSc: n = 15, 0.98 ± 0.15 g/cm² and z-score = 0.20). EDS and SSc subjects had lower BMD of the femoral neck (FN) compared with controls (for EDS: 0.91 ± 0.13 g/cm², z-score =−0.41, P= 0.025; for SSc 0.67 ± 0.13 g/cm², z-score =−0.92, P= 0.006). Subjects with EDS and SSc also had lower BUA values (P= 0.051–0.001) compared with controls. After adjusting for body weight, height, and the level of physical activity, the difference in FN BMD between EDS or SSc and controls became marginal (EDS: P= 0.072; SSc: P= 0.086). However, the significant difference for BUA between subjects and controls remained for EDS (P= 0.008), and disappeared for SSc (0.70) after adjusting for weight, height, level of physical activity, and BMD. These results suggest that the abnormalities of collagen may impact on bone mass measurements differently depending on skeletal site, modality of the assessment, and the source and nature of collagen defects. To determine whether collagen properties influence QUS, proper models in vivo and in vitro should be used. Received: 1 June 1998 / Accepted: 1 November 1998     

Plasma Cholecystokinin Levels after Vertical Banded Gastroplasty: Effects of an Acidified Meal

Background: Although cholecystokinin (CCK) is involved in the short-term regulation of satiety, it has not been investigated in obese patients subjected to bariatric restrictive operations. Methods: 8 morbidly obese patients (BMI 49.1 ± 6.9), 7F and 1M, were investigated before and after vertical banded gastroplasty (VBG). 6 healthy lean volunteers served as the control group. CCK was determined (RIA) after an overnight fast and after the administration of an acidified (pH 3) liquid meal. Blood samples were taken 45 min before the meal, 5 min after it and then every 30 min for 3 hours. Results: There were no differences between groups in basal CCK levels. However, the peak of CCK after the meal was significantly higher (P <0.01) in obese patients after VBG (24.9 ± 18 pmol/l) than before VBG (9.8 ± 6.7 pmol/l) and when compared with the control group (8.0 ± 6.3 pmol/l).The time needed to reach the peak was longer in healthy volunteers (105 ± 24.9 min) than in obese patients before VBG (45 ± 40 min) and after VBG (7.5± 12 min) (P<0.01). Conclusions: VBG increases the peak of CCK secretion and shortens the time to reach it. These changes could contribute to the satiety effects of gastric restrictive operations.