Heterotopic Pregnancy, It is Such a Rare Finding?

Heterotopic pregnancy is a multiple pregnancy with simultaneous implantation of the embryos at two or more distinct locations. Risk factors, epidemiology, signs, symptoms, sonographic findings and management options are reviewed. Literature data indicates an increase of the prevalence of heterotopic pregnancy and a trend increase toward sonographic diagnosis at an earlier stage, before rupture. In order to facilitate early diagnosis, the dictum “think heterotopic” is never overemphasized also in the sonographic evi- dence for an intrauterine pregnancy. Diagnostic vigilance is particularly recommended in in-vitro fertilization with multiple embryo transfer even in the case of intrauterine twin visualization. Finally management options are examined

Bone marrow-derived cells can acquire cardiac stem cells properties in damaged heart

Experimental data suggest that cell-based therapies may be useful for cardiac regeneration following ischaemic heart disease. Bone marrow (BM) cells have been reported to contribute to tissue repair after myocardial infarction (MI) by a variety of humoural and cellular mechanisms. However, there is no direct evidence, so far, that BM cells can generate cardiac stem cells (CSCs). To investigate whether BM cells contribute to repopulate the Kit+ CSCs pool, we transplanted BM cells from transgenic mice, expressing green fluorescent protein under the control of Kit regulatory elements, into wild-type irradiated recipients. Following haematological reconstitution and MI, CSCs were cultured from cardiac explants to generate 'cardiospheres', a microtissue normally originating in vitro from CSCs. These were all green fluorescent (i.e. BM derived) and contained cells capable of initiating differentiation into cells expressing the cardiac marker Nkx2.5. These findings indicate that, at least in conditions of local acute cardiac damage, BM cells can home into the heart and give rise to cells that share properties of resident Kit+ CSCs

Trichobezoars in children: therapeutic complications

Trichobezoars are concretions formed by the accumulation of hair or fibers in the gastrointestinal tract, usually associated with underlying psychiatric disorders in females between 13 and 20 years old. Endoscopy, the gold standard for diagnosis, brings some additional advantages: sample taking, size reducing and, rarely, mass removal. This study shows that endoscopy can cause severe complications resulting in a surgical emergency

Trichobezoars in children: therapeutic complications

Trichobezoars are concretions formed by the accumulation of hair or fibers in the gastrointestinal tract, usually associated with underlying psychiatric disorders in females between 13 and 20 years old. Endoscopy, the gold standard for diagnosis, brings some additional advantages: sample taking, size reducing and, rarely, mass removal. This study shows that endoscopy can cause severe complications resulting in a surgical emergency

Characterization of the poplar pan-genome by genome-wide identification of structural variation

Many recent studies have emphasized the important role of structural variation (SV) in determining human genetic and phenotypic variation. In plants, studies aimed at elucidating the extent of SV are still in their infancy. Evidence has indicated a high presence and an active role of SV in driving plant genome evolution in different plant species.With the aim of characterizing the size and the composition of the poplar pan-genome, we performed a genome-wide analysis of structural variation in three intercrossable poplar species: Populus nigra, Populus deltoides, and Populus trichocarpa. We detected a total of 7,889 deletions and 10,586 insertions relative to the P. trichocarpa reference genome, covering respectively 33.2?Mb and 62.9?Mb of genomic sequence, and 3,230 genes affected by copy number variation (CNV). The majority of the detected variants are inter-specific in agreement with a recent origin following separation of species.Insertions and deletions (INDELs) were preferentially located in low-gene density regions of the poplar genome and were, for the majority, associated with the activity of transposable elements. Genes affected by SV showed lower-than-average expression levels and higher levels of dN/dS, suggesting that they are subject to relaxed selective pressure or correspond to pseudogenes.Functional annotation of genes affected by INDELs showed over-representation of categories associated with transposable elements activity, while genes affected by genic CNVs showed enrichment in categories related to resistance to stress and pathogens. This study provides a genome-wide catalogue of SV and the first insight on functional and structural properties of the poplar pan-genome

Use of adipose derived stem cells in Treacher Collins syndrome

Objective: Treacher Collins syndrome (TCS) is a rare congenital disorder of craniofacial development. TCS occurs with an incidence of 1:50,000, and more than 60% of TCS cases have no previous family history and arise as the result of de novo mutations. The high rate of de novo mutations, together with the extreme variability in the degree to which individuals can be affected, makes the provision of genetic counseling extremely complicated. Consequently, every case of TCS is unique and needs to be assessed individually. Patients with TCS frequently undergo multiple reconstructive surgeries from birth through adulthood, which rarely are fully corrective in the long-term. The nascent field of regenerative medicine offers the promise to improve some of these treatments. In particular, structural fat grafting (SFG) seems to be a good strategy not only to restore the normal volume and contour of the face, but also to provide a source of adipose-derived stem cells (ADSCs) with a multilineage differentiation potential. In this work, we present genetical analyses of ADSC affected by TCS. Materials and methods: ADSCs from were analyzed for their stemness properties and shared many characteristics with those of a healthy subject. Screening of the genome of the TCS patient using array-Comparative Genomic Hybridization allowed us to identify some chromosomal imbalances that are probably associated with TCS. Results: We found that some alterations, involving the TIMELESS gene, were usually associated with embryonic stem cells. Conclusions: With the aim to improve the final results, we need to consider combining knowledge of genetic alterations and expression profiles as a fundamental step before starting with surgical procedures

Dysfunctional mitochondria accumulate in a skeletal muscle knockout model of Smn1, the causal gene of spinal muscular atrophy

The approved gene therapies for spinal muscular atrophy (SMA), caused by loss of survival motor neuron 1 (SMN1), greatly ameliorate SMA natural history but are not curative. These therapies primarily target motor neurons, but SMN1 loss has detrimental effects beyond motor neurons and especially in muscle. Here we show that SMN loss in mouse skeletal muscle leads to accumulation of dysfunctional mitochondria. Expression profiling of single myofibers from a muscle specific Smn1 knockout mouse model revealed down-regulation of mitochondrial and lysosomal genes. Albeit levels of proteins that mark mitochondria for mitophagy were increased, morphologically deranged mitochondria with impaired complex I and IV activity and respiration and that produced excess reactive oxygen species accumulated in Smn1 knockout muscles, because of the lysosomal dysfunction highlighted by the transcriptional profiling. Amniotic fluid stem cells transplantation that corrects the SMN knockout mouse myopathic phenotype restored mitochondrial morphology and expression of mitochondrial genes. Thus, targeting muscle mitochondrial dysfunction in SMA may complement the current gene therapy

Deletion of small ankyrin 1 (SANK1) isoforms results in structural and functional alterations in aging skeletal muscle fibers

Muscle-specific ankyrins 1 (sAnk1) are a group of small ankyrin 1 isoforms, of which sAnk1.5 is the most abundant. sAnk1 are localized in the sarcoplasmic reticulum (SR) membrane from where they interact with obscurin, a myofibrillar protein. This interaction appears to contribute to stabilize the SR close to the myofibrils. Here we report the structural and functional characterization of skeletal muscles from sAnk1 knockout mice (KO). Deletion of sAnk1 did not change the expression and localization of SR proteins in 4- to 6-mo-old sAnk1 KO mice. Structurally, the main modification observed in skeletal muscles of adult sAnk1 KO mice (4\u20136 mo of age) was the reduction of SR volume at the sarcomere A band level. With increasing age (at 12\u201315 mo of age) extensor digitorum longus (EDL) skeletal muscles of sAnk1 KO mice develop prematurely large tubular aggregates, whereas diaphragm undergoes significant structural damage. Parallel functional studies revealed specific changes in the contractile performance of muscles from sAnk1 KO mice and a reduced exercise tolerance in an endurance test on treadmill compared with control mice. Moreover, reduced Q\u3b3 charge and L-type Ca2+ current, which are indexes of affected excitation-contraction coupling, were observed in diaphragm fibers from 12- to 15-mo-old mice, but not in other skeletal muscles from sAnk1 KO mice. Altogether, these findings show that the ablation of sAnk1, by altering the organization of the SR, renders skeletal muscles susceptible to undergo structural and functional alterations more evident with age, and point to an important contribution of sAnk1 to the maintenance of the longitudinal SR architecture

In vitro comparative study on the mechanical behavior of Zirconia and Polyetheretherketone in applied dental sciences

OBJECTIVE: Recently, Zirconia and polyaryletherketone (PEEK) have attracted increasing interest as reliable and safe materials in dental applications, mainly because of their good biomechanical characteristics. The aim of this study was to investigate the response to different loads by prosthetic frameworks for supported fixed partial dentures (FPDs), thus simulating osseointegrated implants. MATERIALS AND METHODS: The specimens were divided into two groups (n= 5 each). Group A: FDPs in zirconia-ceramic; Group B: FDPs in PEEK-composite. These 2 groups were subjected to vertical loads so to evaluate structural deformation; then, they have been analyzed by scanning electron microscopy (SEM) at different magnifications. RESULTS: In tested samples, different types of mechanical failures have been observed. In Zirconia-specimens, chipping is the main failure noticed in this study, mostly in distal margins of the structure. Also, peek-specimens show failure and fracture. CONCLUSIONS: Zirconia and PEEK could be considered both good materials, but several investigations are needed to use these materials as an alternative to metals for fixed partial dentures