Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a devastating autosomal recessive disorder due to mutations in TYMP, which cause loss of function of thymidine phosphorylase (TP), nucleoside accumulation in plasma and tissues and mitochondrial dysfunction. The clinical picture includes progressive gastrointestinal dysmotility, cachexia, ptosis and ophthalmoparesis, peripheral neuropathy and diffuse leukoencephalopathy, which usually lead to death in early adulthood. Therapeutic options are currently available in clinical practice (allogeneic hematopoietic stem cell transplantation and carrier erythrocyte entrapped TP therapy) and newer, promising therapies are expected in the near future. However, successful treatment is strictly related to early diagnosis. We report on an incomplete MNGIE phenotype in a young man harboring the novel heterozygote c.199 C>T (Q67X) mutation in exon 2, and the previously reported c.866 A>C (E289A) mutation in exon 7 in TYMP. The correct diagnosis was achieved many years after the onset of symptoms and unfortunately, the patient died soon after diagnosis because of multiorgan failure due to severe malnutrition and cachexia before any therapeutic option could be tried. To date, early diagnosis is essential to ensure that patients have the opportunity to be treated. MNGIE should be suspected in all patients who present with both gastrointestinal and nervous system involvement, even if the classical complete phenotype is lacking

Tensile and compression properties of variously arranged porous Ti-6Al-4V additively manufactured structures via SLM

Abstract Additively manufactured porous structures find increasing applications in the biomedical context to produce orthopedic prosthesis and devices. In comparison with traditional bulk metallic implants, they permit to tailor the stiffness of the prosthesis to that of the surrounding bony tissues, thus limiting the onset of stress shielding and resulting implant loosening, and to favor the bone in-growth through the interconnected pores. Mechanical and biological properties of these structures are strongly influenced by the size and spatial arrangement of pores and struts. In the present work irregular and regular cellular as well as fully random porous structures are investigated through tensile and compression uniaxial tests. Specific point of novelty of this work is that, beside classical compressive tests, which are standard characterization methods for porous/ cellular materials, tensile tests are carried out. Mechanical tests are complemented with morphological analysis and porosity measurements. An attempt is made to find correlations between cell arrangements, porosity and mechanical properties

Flexural strength of acrylic resin repairs processed by different methods: water bath, microwave energy and chemical polymerization

Denture fractures are common in daily practice, causing inconvenience to the patient and to the dentists. Denture repairs should have adequate strength, dimensional stability and color match, and should be easily and quickly performed as well as relatively inexpensive. OBJECTIVE: The aim of this study was to evaluate the flexural strength of acrylic resin repairs processed by different methods: warm water-bath, microwave energy, and chemical polymerization. MATERIAL AND METHODS: Sixty rectangular specimens (31x10x2.5 mm) were made with warm water-bath acrylic resin (Lucitone 550) and grouped (15 specimens per group) according to the resin type used to make repair procedure: 1) specimens of warm water-bath resin (Lucitone 550) without repair (control group); 2) specimens of warm water-bath resin repaired with warm water-bath; 3) specimens of warm water-bath resin repaired with microwave resin (Acron MC); 4) specimens of warm water-bath resin repaired with autopolymerized acrylic resin (Simplex). Flexural strength was measured with the three-point bending in a universal testing machine (MTS 810 Material Test System) with load cell of 100 kgf under constant speed of 5 mm/min. Data were analyzed statistically by Kruskal-Wallis test (p<0.05). RESULTS: The control group showed the best result (156.04±1.82 MPa). Significant differences were found among repaired specimens and the results were decreasing as follows: group 3 (43.02±2.25 MPa), group 2 (36.21±1.20 MPa) and group 4 (6.74±0.85 MPa). CONCLUSION: All repaired specimens demonstrated lower flexural strength than the control group. Repairs with autopolymerized acrylic resin showed the lowest flexural strength

Pearls &amp; Oy-sters: An unusual case of varicella-zoster virus cerebellitis and vasculopathy.

CNS complications of varicella-zoster virus (VZV) occur mainly in immunocompromised or elderly patients and include meningitis, myelitis, acute encephalitis, vasculopathy, and, rarely, cerebellitis.(1-8.

Teaching NeuroImages: neuroradiologic findings in pontine and extrapontine myelinolysis: clue for the pathogenesis?

[no abstract available

Comparative metrological characterization of Ti6Al4V lattice structures produced by laser powder bed fusion

The advancement of Additive Manufacturing (AM) technologies, such as Laser Powder Bed Fusion (LPBF), enables the fabrication of metallic lattice materials with a wide range of topologies and size scales. The possibility to manufacture these materials into complex shapes with good property-to-weight ratio stimulates a growing interest in several industrial sectors, including biomedical, aerospace, and automotive. Nevertheless, such structural features printed at a small-scale often suffer from a wide range of morphological defects that can lead to a marked deviation from the nominal geometry and consequently impact the mechanical, transport and thermal properties. An accurate metrological characterization of the lattice is thus of paramount importance for a more reliable prediction of the properties of the lattice. The most common characterization techniques used for as-built lattice materials are scanning electron microscopy (SEM), optical microscopy (OM) and X-ray computed tomography (CT). CT, contrary to the other methods, provides full 3D data including inaccessible geometries and features, in a non-destructive way, but it requires expensive equipment and considerable expertise. SEM and OM can be faster and less expensive, but can be non-destructive only when limited to the outer surface of the lattice. When combined with metallographic analysis, instead, they require destructive, careful and time-consuming specimen preparation, and the analysis is confined to selected sections. In this work, the three above-mentioned techniques are applied to the metrological characterization of LBPF Ti6Al4V regular cubic lattices of 4 mm unit cell size and struts with circular cross-section of diameter 0.760 mm. The results in terms of strut cross-section parameters and junction fillet radius are compared and the effect of the size of the analysis domain on the accuracy of the results is investigated by comparing lattice sub-volumes of different size. Via a thorough statistical analysis it is shown that CT and metallographic characterization are compatible, while microscope imaging can lead to an overestimation of the strut thickness

Mitochondrial sensorineural hearing loss: a retrospective study and a description of cochlear implantation in a MELAS patient.

Hearing impairment is common in patients with mitochondrial disorders, affecting over half of all cases at some time in the course of the disease. In some patients, deafness is only part of a multisystem disorder. By contrast, there are also a number of "pure" mitochondrial deafness disorders, the most common probably being maternally inherited. We retrospectively analyzed the last 60 genetically confirmed mitochondrial disorders diagnosed in our Department: 28 had bilateral sensorineural hearing loss, whereas 32 didn't present ear's abnormalities, without difference about sex and age of onset between each single group of diseases. We reported also a case of MELAS patient with sensorineural hearing loss, in which cochlear implantation greatly contributed to the patient's quality of life. Our study suggests that sensorineural hearing loss is an important feature in mitochondrial disorders and indicated that cochlear implantation can be recommended for patients with MELAS syndrome and others mitochondrial disorders

Uniaxial static mechanical properties of regular, irregular and random additively manufactured cellular materials: Nominal vs. real geometry

The present work investigates cellular materials that can be potentially used as a replacement of solid implants owing to their mechanical properties and biocompatibility. More specifically, titanium alloy (Ti6Al4V) cellular materials of three different topologies were considered to study the effect of the degree of irregularity. Cubic regular, cubic irregular and trabecular structures were manufactured using Laser based powder bed fusion (LB-PBF) process. The LB-PBF process had an impact on the strut thickness of the samples. Samples were subjected to micro computed tomography to understand the geometrical deviations and to use the actual geometry for finite element analysis. Mechanical properties such as Young's modulus and strength were derived from compression and tensile testing. The results indicate that the Young's modulus was between 6 and 17 GPa, which were closer to the values of human cortical bone. The finite element analysis results showed a good correlation with the tensile test results as well. Furthermore, Gibson–Ashby model is used to study the effect of cell topology on the structural behavior. The model indicated that the misalignment of nodes of cubic regular structures to form irregular structure, transformed the stretching dominated behavior of cubic structures to bending dominated behavior like trabecular structures. Finally, the regular structures appeared to be much more prone to catastrophic failure than irregular and trabecular structures. Both visual observation of experimental testing and FE analysis explained this difference as result of different modes and zones of failures