Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals

We report a new patient with terminal deletion of chromosome 2 with breakpoint at 2q36 and five additional new patients with 2q terminal deletion with breakpoint at 2q37. Hemidiaphragmatic hernia is a novel finding in one patient with a breakpoint at 2q37.1. In comparing these patients to 60 previously reported individuals with 2q terminal deletions, certain physical abnormalities are loosely associated with positions of breakpoint. For example, facial features (e.g., prominent forehead, depressed nasal bridge, and dysmorphic ears and nose), short stature, and short hands and feet were frequent in patients with breakpoints at or proximal to 2q37.3. Reports of horseshoe kidney and Wilms tumor were limited to patients with a breakpoint at 2q37.1, and structural brain anomalies and tracheal anomalies were reported only in patients with breakpoints at or proximal to 2q37.1. Cleft palate was reported only in patients with the most proximal breakpoints (2q36 or 2q35). Neurological effects including developmental delay, mental retardation, autistic-like behavior, and hypotonia were typical in this patient population but did not stratify in severity according to breakpoint. Terminal deletion of the long arm of chromosome 2 should be considered in the infant with marked hypotonia, poor feeding, gastroesophageal reflux, and growth delay, and the older child with developmental delay, autistic behavior, and the characteristic facial and integumentary features described herein. Assignment of clinical features to specific breakpoints and refinement of predictive value may be useful in counseling.     

<Superscript>18</Superscript>F-FDG-PET/CT Imaging to Diagnose Septic Emboli and Mycotic Aneurysms in Patients with Endocarditis and Cardiac Device Infections

Purpose of review

This review analyzes recent studies evaluating the diagnostic value of ¹⁸F-FDG-PET/CT for the detection of peripheral emboli and secondary infectious foci in patients with infective endocarditis and cardiac device infections.

Recent findings

Detection of extracardiac septic localizations in patients with infective endocarditis and cardiac device infections is crucial, as it may impact the diagnosis, prognosis, and therapeutic management. Recent literature substantiated the clinical usefulness of ¹⁸F-FDG-PET/CT in this setting.

Summary

¹⁸F-FDG-PET/CT has proven its high diagnostic value for the detection of peripheral emboli in patients with infective endocarditis and cardiac device infections, substantially affecting patients’ outcome and treatment. A multimodal approach, combining the high sensitivity of ¹⁸F-FDG-PET/CT with morphological imaging seems promising.

     

Hypertensive response to exercise in dipper and non-dipper normotensive diabetics

Non-dipper blood pressure (NDP) as an indicator of autonomic dysfunction could be associated with hypertensive response to exercise (HRE) in diabetic patients. HRE was determined as a predictor of development of unborn hypertension. We aimed to investigate if any correlation among NDP and HRE in normotensive type 2 diabetic patients. A total of 59 consecutive type 2 diabetic patients without history of hypertension and with normal blood pressure (BP) on ambulatory blood pressure monitoring (ABPM) were enrolled to the study. We divided the study population in to two groups depending on their BP on ABPM as dipper (group 1) or non-dipper (group 2). There were 22 patients (mean age 49.5?±?7 and 10 male) in group 1 and 37 patients (mean age 53.1?±?10 and 14 male) in group 2. Daytime diastolic and mean BP of dippers and night time systolic and mean BP of non-dippers were significantly higher. HRE was not significantly different between groups (59% vs. 62%, p?=?0.820). Hemodynamic parameters during the exercise test were similar. At multivariate linear regression analysis, resting office systolic blood pressure (SBP) (r?=?0.611, p?r?=?0.266, p?=?0.002) and age (r?=?0.321, p?=?0.010) were independently correlated with peak exercises SBP. Logistic regression analyses identified the resting office SBP (OR 1.191, 95% CI 1.080–1.313; p?p?=?0.012) were independent predictors of HRE. This study revealed that HRE is not related with non-dipper BP in diabetic patients. This study could inspire to further studies to explore the main reasons of HRE in diabetes mellitus.     

In the Experimental Model of Acute Mesenteric Ischemia,The Correlation of Blood Diagnostic Parameters with the Duration of Ischemia and their Effects on Choice of Treatment

ABSTRACT

Purpose/Aim: Acute mesenteric ischemia is a syndrome characterized by sudden onset abdominal pain followed by intestinal necrosis. Morbidity and mortality increase with delayed diagnosis. Even with the latest radiological diagnostic methods, early diagnosis and initiation of treatment can be delayed. Using an experimental model, here we aim to determine the relationship between the laboratory parameters used to detect acute mesenteric ischemia and the duration of irreversible ischemia. Materials and Methods: A total of 30 male Wistar albino rats were divided into five groups, all of which underwent general anesthesia: (i) Superior mesenteric artery (SMA) dissection with laparotomy was performed, and blood samples and intestinal segment samples were taken after 2 hr (Sham group); (ii) volvulus of one-third of the small intestines was performed manually by laparotomy, and blood samples and intestinal segment samples were taken after 2 hr (Volvulus group); (iii) SMA was ligated with laparotomy, and blood samples and intestinal segment samples were taken after 2 hr (SMA+ligated 2-hr group); (iv) SMA was ligated with laparotomy, and blood samples and intestinal segment samples were taken after 4 hr (SMA+ligated 4-hr group); and (v) SMA was ligated with laparotomy, and blood samples and intestinal segment samples were taken after 6 hr (SMA+ligated 6-hr group). Results: The mean lactate dehydrogenase (LDH) activities of the SMA+ligated 2-hr and SMA+ligated 6-hr groups were statistically higher than the control group (p = .004). Compared to the Sham and Volvulus groups, the mean lactate level of the SMA+ligated 6-hr group was significantly higher (p = .004). Compared to the Sham and Volvulus groups, the mean D-dimer levels of the SMA+ligated 4-hr and SMA+ligated 6-hr groups were significantly higher (p = .004 and .003, respectively). By histopathological evaluation, we found that pathological damage increased as the ischemia lengthened. Conclusions: Mesenteric ischemia leads to an irreversible loss of intestinal perfusion and an increase in parameters of ischemia. Irreversible tissue damage occurs after 4 hr of ischemia and peaks after 6 hr, whereas parameters of ischemia (D-dimer, LDH, and L-Lactate levels) are highest at 2 hr after the onset of ischemia.     

EFFECT OF CAST RECTIFIERS ON THE MARGINAL FIT OF UCLA ABUTMENTS

Objectives:

This study assessed the effect of cast rectifiers on the marginal misfit of cast UCLA abutments compared to premachined UCLA abutments. The influence of casting and porcelain baking on the marginal misfit of these components was also investigated.

Methods:

Two groups were analyzed: test group – 10 cast UCLA abutments, finished with cast rectifier and submitted to ceramic application; control group – 10 premachined UCLA abutments, cast with noble metal alloy and submitted to ceramic application. Vertical misfit measurements were performed under light microscopy. In the test group, measurements were performed before and after the use of cast rectifiers, and after ceramic application. In the control group, measurements were performed before and after casting, and after ceramic application. Data were submitted to statistical analysis by ANOVA and Tukey''s test (α= 5%).

Results:

The use of cast rectifiers significantly reduced the marginal misfit of cast UCLA abutments (from 25.68μm to 14.83μm; p<0.05). After ceramic application, the rectified cylinders presented misfit values (16.18μm) similar to those of premachined components (14.3 μm). Casting of the premachined UCLA abutments altered the marginal misfit of these components (from 9.63 μm to 14.6 μm; p<0.05). There were no significant changes after porcelain baking, in both groups.

Conclusion:

The use of cast rectifiers reduced the vertical misfit of cast UCLA abutments. Even with carefully performed laboratory steps, changes at the implant interface of premachined UCLA abutments occurred. Ceramic application did not alter the marginal misfit values of UCLA abutments.     

Enhanced depth-independent chondrocyte proliferation and phenotype maintenance in an ultrasound bioreactor and an assessment of ultrasound dampening in the scaffold

Chondrocyte-seeded scaffolds were cultured in an ultrasound (US)-assisted bioreactor, which supplied the cells with acoustic energy around resonance frequencies (∼5.0 MHz). Polyurethane-polycarbonate (BM), chitosan (CS) and chitosan–n-butanol (CSB) based scaffolds with varying porosities were chosen and the following US regimen was employed: 15 kPa and 60 kPa, 5 min per application and 6 applications per day for 21 days. Non-stimulated scaffolds served as control. For BM scaffolds, US stimulation significantly impacted cell proliferation and depth-independent cell population density compared to controls. The highest COL2A1/COL1A1 ratios and ACAN mRNA were noted on US-treated BM scaffolds compared to controls. A similar trend was noted on US-treated cell-seeded CS and CSB scaffolds, though COL2A1/COL1A1 ratios were significantly lower compared to BM scaffolds. Expression of Sox-9 was also elevated under US and paralleled the COL2A1/COL1A1 ratio. As an original contribution, a simplified mathematical model based on Biot theory was developed to understand the propagation of the incident US wave through the scaffolds and the model analysis was connected to cellular responses. Scaffold architecture influenced the distribution of US field, with the US field being the least attenuated in BM scaffolds, thus coupling more mechanical energy into cells, and leading to increased cellular activity.     

Composition chimique de l’huile essentielle d’Artemisia herba-alba provenant de la région de Biskra (Algérie)

Artemisia herba-alba Asso (Asteraceae) essential oil (EO), obtained by hydrodistillation from aerial parts, and was investigated using GC-FID and GC-MS techniques. The EO yield, based on dry weight, was 0.95% (v/w). Forty six components corresponding to 92.61% of the oil were identified. The EO contained in majority: cis-chrysanthenyl acetate (25.12%); (2E,3Z) 3,5-heptadienal-2-ethyliden-6-methyl (8.39%); α-thujone (7.85%); myrtenyl acetate (7.39%); verbenone (7.19%), chrysanthenone (4.98%). Chemical composition was very specific for this Algerian plant.     

Enrichment of tomato paste with 6% tomato peel increases lycopene and beta-carotene bioavailability in men

A high intake of tomato products is associated with a lower incidence of upper aerodigestive tract and prostate cancers. This beneficial effect might be explained by a higher intake of carotenoids such as lycopene and/or beta-carotene. Because tomato peels, usually eliminated during tomato processing, are a valuable source of these carotenoids, we designed a study to examine whether a tomato paste enriched in tomato peels (ETP, 6% peel) increases the absorption of these carotenoids compared to a classically made tomato paste (CTP). Carotenoid bioaccessibility was evaluated using an in vitro digestion model by measuring the amount of carotenoids transferred from the pastes to micelles. Carotenoid absorption by human intestinal cells (Caco-2) was evaluated after the addition of carotenoid-rich micelles (obtained from the in vitro digestion of the 2 pastes). Carotenoid bioavailability in humans was assessed by measuring chylomicron carotenoid responses in a postprandial experiment in which 8 healthy men consumed 2 meals containing either the ETP or the CTP. ETP contained 47.6 mg lycopene (58% more than CTP) and 1.75 mg beta-carotene (99% more than CTP) per 100 g of paste. In micelles, 30% more lycopene and 81% more beta-carotene were recovered after ETP than after CTP in vitro digestion. The amount of carotenoids absorbed by Caco-2 cells was 75% greater (P < or = 0.05) for lycopene and 41% greater (P < or = 0.05) for beta-carotene after the addition of micelles from ETP than from CTP. After ETP intake the chylomicron beta-carotene response was 74% greater than after CTP intake, and the lycopene response tended to be greater (34.1%, P = 0.093). Peel enrichment of tomato paste with tomato peel is an interesting option for increasing lycopene and beta-carotene intakes.