Poikiloderma With Neutropenia and Mastocytosis: A Case Report and a Review of Dermatological Signs

Poikiloderma with neutropenia (PN) is a very rare genetic disorder mainly characterized by poikiloderma and congenital neutropenia, which explains the recurrence of respiratory infections and risk of developing bronchiectasis. Patients are also prone to develop hematological and skin cancers. Here, we present the case of a patient, the only child of apparently unrelated Serbian parents, affected by PN resulting from the homozygous mutation NM_024598.3:c.243G>A (p.Trp81Ter) of USB1; early onset of poikiloderma (1 year of age) was associated with cutaneous mastocytosis. We also provide a review of the literature on this uncommon condition with a focus on dermatological findings

The Importance of Interfaces in Multi-Material Biofabricated Tissue Structures

Biofabrication exploits additive manufacturing techniques for creating 3D structures with a precise geometry that aim to mimic a physiological cellular environment and to develop the growth of native tissues. The most recent approaches of 3D biofabrication integrate multiple technologies into a single biofabrication platform combining different materials within different length scales to achieve improved construct functionality. However, the importance of interfaces between the different material phases, has not been adequately explored. This is known to determine material's interaction and ultimately mechanical and biological performance of biofabricated parts. In this review, this gap is bridged by critically examining the interface between different material phases in (bio)fabricated structures, with a particular focus on how interfacial interactions can compromise or define the mechanical (and biological) properties of the engineered structures. It is believed that the importance of interfacial properties between the different constituents of a composite material, deserves particular attention in its role in modulating the final characteristics of 3D tissue-like structures

The Importance of Interfaces in Multi-Material Biofabricated Tissue Structures

Biofabrication exploits additive manufacturing techniques for creating 3D structures with a precise geometry that aim to mimic a physiological cellular environment and to develop the growth of native tissues. The most recent approaches of 3D biofabrication integrate multiple technologies into a single biofabrication platform combining different materials within different length scales to achieve improved construct functionality. However, the importance of interfaces between the different material phases, has not been adequately explored. This is known to determine material's interaction and ultimately mechanical and biological performance of biofabricated parts. In this review, this gap is bridged by critically examining the interface between different material phases in (bio)fabricated structures, with a particular focus on how interfacial interactions can compromise or define the mechanical (and biological) properties of the engineered structures. It is believed that the importance of interfacial properties between the different constituents of a composite material, deserves particular attention in its role in modulating the final characteristics of 3D tissue-like structures

The Importance of Interfaces in Multi-Material Biofabricated Tissue Structures

Biofabrication exploits additive manufacturing techniques for creating 3D structures with a precise geometry that aim to mimic a physiological cellular environment and to develop the growth of native tissues. The most recent approaches of 3D biofabrication integrate multiple technologies into a single biofabrication platform combining different materials within different length scales to achieve improved construct functionality. However, the importance of interfaces between the different material phases, has not been adequately explored. This is known to determine material's interaction and ultimately mechanical and biological performance of biofabricated parts. In this review, this gap is bridged by critically examining the interface between different material phases in (bio)fabricated structures, with a particular focus on how interfacial interactions can compromise or define the mechanical (and biological) properties of the engineered structures. It is believed that the importance of interfacial properties between the different constituents of a composite material, deserves particular attention in its role in modulating the final characteristics of 3D tissue-like structures

SILK-BASED MATERIALS TO CREATE HIGH RESOLUTION THREE-DIMENSIONAL STRUCTURES USING ELECTROHYDRODYNAMIC PRINTING

Mimicking the complex hierarchical structure of the extracellular matrix (ECM) has always been a major goal in tissue engineering (TE) approaches [1] [2]. Despite the great advances in biomaterial processing technologies, the main limitation concerns the resolution of the fibers, which hampers the reproduction of ECM. Here, we combine Silk Fibroin (SF) [5], a highly potent biomaterial that intrinsically has the characteristics of making fibrous structures, with Electrohydrodynamic printing, an innovative 3D printing technique that allows patterning at micro and sub micro scale. To fabricate these complex structures, Electrohydrodynamic printing applies a voltage between the needle and the collector screen to charge the polymer solution, with a consequent thinning of the fibers, making it possible to reach optimal resolutions for recreating the hierarchical and fibrillar structure of ECM [3] [4]. We have studied SF in its chemical structure to allow a better understanding of the structural and mechanical behaviour of the material before and after printing. We have demonstrated the printability of SF with Electrohydrodynamic printing and, just by tuning the rheological properties, it is possible to obtain straight fibers with a resolution of 10‐20 mm. We have also demonstrated that these fibers can be physically crosslinked inducing the formation of b‐sheets structure in the protein chain; after crosslinking the fibers are stable and don't dissolve in water. SF is therefore proving to be an optimal material for this application and is gaining strong interest in soft tissue engineering

SILK-BASED MATERIALS TO CREATE HIGH RESOLUTION THREE-DIMENSIONAL STRUCTURES USING ELECTROHYDRODYNAMIC PRINTING

Mimicking the complex hierarchical structure of the extracellular matrix (ECM) has always been a major goal in tissue engineering (TE) approaches [1] [2]. Despite the great advances in biomaterial processing technologies, the main limitation concerns the resolution of the fibers, which hampers the reproduction of ECM. Here, we combine Silk Fibroin (SF) [5], a highly potent biomaterial that intrinsically has the characteristics of making fibrous structures, with Electrohydrodynamic printing, an innovative 3D printing technique that allows patterning at micro and sub micro scale. To fabricate these complex structures, Electrohydrodynamic printing applies a voltage between the needle and the collector screen to charge the polymer solution, with a consequent thinning of the fibers, making it possible to reach optimal resolutions for recreating the hierarchical and fibrillar structure of ECM [3] [4]. We have studied SF in its chemical structure to allow a better understanding of the structural and mechanical behaviour of the material before and after printing. We have demonstrated the printability of SF with Electrohydrodynamic printing and, just by tuning the rheological properties, it is possible to obtain straight fibers with a resolution of 10‐20 mm. We have also demonstrated that these fibers can be physically crosslinked inducing the formation of b‐sheets structure in the protein chain; after crosslinking the fibers are stable and don't dissolve in water. SF is therefore proving to be an optimal material for this application and is gaining strong interest in soft tissue engineering

The Importance of Interfaces in Multi-Material Biofabricated Tissue Structures

Biofabrication exploits additive manufacturing techniques for creating 3D structures with a precise geometry that aim to mimic a physiological cellular environment and to develop the growth of native tissues. The most recent approaches of 3D biofabrication integrate multiple technologies into a single biofabrication platform combining different materials within different length scales to achieve improved construct functionality. However, the importance of interfaces between the different material phases, has not been adequately explored. This is known to determine material's interaction and ultimately mechanical and biological performance of biofabricated parts. In this review, this gap is bridged by critically examining the interface between different material phases in (bio)fabricated structures, with a particular focus on how interfacial interactions can compromise or define the mechanical (and biological) properties of the engineered structures. It is believed that the importance of interfacial properties between the different constituents of a composite material, deserves particular attention in its role in modulating the final characteristics of 3D tissue-like structures

The Importance of Interfaces in Multi-Material Biofabricated Tissue Structures

Biofabrication exploits additive manufacturing techniques for creating 3D structures with a precise geometry that aim to mimic a physiological cellular environment and to develop the growth of native tissues. The most recent approaches of 3D biofabrication integrate multiple technologies into a single biofabrication platform combining different materials within different length scales to achieve improved construct functionality. However, the importance of interfaces between the different material phases, has not been adequately explored. This is known to determine material's interaction and ultimately mechanical and biological performance of biofabricated parts. In this review, this gap is bridged by critically examining the interface between different material phases in (bio)fabricated structures, with a particular focus on how interfacial interactions can compromise or define the mechanical (and biological) properties of the engineered structures. It is believed that the importance of interfacial properties between the different constituents of a composite material, deserves particular attention in its role in modulating the final characteristics of 3D tissue-like structures

An atypical Aymé-Gripp phenotype detected by exome sequencing

: Aymé-Gripp Syndrome (AGS) is an ultra-rare syndrome characterized by peculiar facial traits combined with early bilateral cataracts, sensorineural hearing loss, and variable neurodevelopmental abnormalities. Only a few cases carrying a pathogenic variant in MAF have been described to date. A significant effort is then required to expand the genotypic and phenotypic spectrum of this condition. In this paper, we report the peculiar case of a 6-year-old girl carrying a de novo missense pathogenic variant in MAF, being the first case reported to show a milder phenotype with no cataracts and deafness displayed. Furthermore, we performed a systematic review of previously published cases, focusing on clinical manifestation and genotype

Small scale Suspended Interferometer for Ponderomotive Squeezing (SIPS) as test bench of the EPR squeezer for Advanced Virgo

We are developing a small-scale interferometer with monolithic suspension of test masses (SIPS), that will be sensitive to the quantum radiation pressure noise in the audio frequency band of gravitational wave detectors. In the same time, a table-top experiment for the frequency dependent squeezing generation, through the Einstein Podolsky Rosen (EPR) principle, is under construction. SIPS interferometer, being designed to achieve the quantum radiation pressure noise limit exploiting high finesse optical cavities, turns out to be a suitable test bench for the EPR technique, before a possible integration in Virgo for broadband quantum noise reduction. In this work, we describe the concept of the SIPS experiment, the most important noises affecting this setup, and we briefly present the current status and the plan for the integration with the EPR squeezing experiment