Neutron diffraction study of mechanically alloyed and <i>in situ</i> annealed Al₇₅Mo₂₅ powders

The mechanical treatment of a Al75Mo25 mixture of pure elemental powders in a high-energy mixer mill induces partial solid state reactivity and solid solution formation. This is suggested by a quantitative phase evaluation and by the changes of Al lattice parameter carried out with Rietveld analysis of diffraction patterns collected after extended time of processing (4, 8, 16, 32, 57, and 78 h). The small angle neutron scattering experiments showed that diffusion processes are the rate-controlling step for these solid state reactions. The formation of metastable phases is confirmed by in situ neutron diffraction annealing experiments on selected as-milled powders. In the specimen mechanically alloyed for 4 h, Al12Mo phase is formed at 590 °C (below the aluminum melting point). Soon after this temperature, the remaining Al is consumed to form the Al8Mo3 phase. In the alloy mechanically treated for 32 h, the Al12Mo phase appears after annealing at 430 °C, while the Al8Mo3 phase is found at 493 °C. After the disappearance of Al12Mo phase (500 °C), the solid state reaction proceeds to form a new tetragonal Al3Mo phase, not reported in the equilibrium phase diagram. In the specimen mechanically treated for 57 h, the total formation of Al8Mo3 is recorded at 430 °C. Conversely, in the powder ball milled for 78 h, the Al8Mo3 phase appears at 390 °C and coexists with tetragonal Al3Mo

A Novel Family with Demyelinating Charcot–Marie–Tooth Disease Caused by a Mutation in the PMP2 Gene: A Case Series of Nine Patients and a Brief Review of the Literature

Introduction: Charcot-Marie-Tooth (CMT) is a group of inherited peripheral neuropathies characterized by wide genotypic and phenotypic variability. The onset is typically in childhood, and the most frequent clinical manifestations are predominantly distal muscle weakness, hypoesthesia, foot deformity (pes cavus) and areflexia. In the long term, complications such as muscle-tendon retractions, extremity deformities, muscle atrophy and pain may occur. Among CMT1, demyelinating and autosomal dominant forms, CMT1G is determined by mutations in the PMP2 myelin protein. Results: Starting from the index case, we performed a clinical, electrophysiological, neuroradiological and genetic evaluation of all family members for three generations; we identified p.Ile50del in PMP2 in all the nine affected members. They presented a typical clinical phenotype, with childhood-onset variable severity between generations and a chronic demyelinating sensory-motor polyneuropathy on the electrophysiologic examination; the progression was slow to very slow and predominant in the lower limbs. Our study reports a relatively large sample of patients, members of the same family, with CMT1G by PMP2, which is a rare form of demyelinating CMT, highlighting the genetic variability of the CMT family instead of the overlapping clinical phenotypes within demyelinating forms. To date, only supportive and preventive measures for the most severe complications are available; therefore, we believe that early diagnosis (clinical, electrophysiological and genetic) allows access to specialist follow-up and therapies, thereby improving the quality of life of patients

Novel recurrent chromosome anomalies in Shwachman Diamond syndrome

Clonal chromosome anomalies are frequently acquired in the bone marrow (BM) of patients with Shwachman-Diamond syndrome (SDS), and two are the most frequent: an isochromosome of the long arm of chromosome 7, i(7)(q10), and an interstitial deletion of the long arm of chromosome 20, del(20)(q). Patients with SDS have a risk of developing myelodysplasia (MDS) and/or acute myeloid leukaemia (AML), and the presence of chromosome changes was studied in relation with this risk. Starting in 1999 we have monitored the cytogenetic picture of a cohort of 92 Italian patients with SDS by all suitable cytogenetic and molecular methods. Clonal anomalies in BM were present in 41/92 patients. The i(7)(q10) was observed in 16 patients, and the del(20)(q) in 15, both these changes in four, but in independent clones. So, the most frequent clonal anomalies were found in 35 patients. Other, different, clonal anomalies were found in the BM of 13 patients, in eight cases in the absence of i(7)(q10) or del(20)(q), in five cases in association with one of these changes. In these less common clonal anomalies, the distribution of the chromosomes involved was markedly disparate, and some of them were novel and recurrent: - structural rearrangements of chromosome 7, mainly unbalanced (deletions, inversions or translocations), were present in five of our 13 patients, three of whom developed MDS/AML. - a further complex rearrangement of the more common del(20)(q), leading to duplicated and deleted portions, was identical in two patients, with almost identical a-CGH profiles, neither developed MDS/AML. - an unbalanced translocation t(3;6), with partial trisomy of the long arm of chromosome 3 and partial monosomy of the long arm of chromosome 6, was not identical but very similar in two patients, one of whom developed MDS/AML

Finite Element Method Modeling of Sensible Heat Thermal Energy Storage with Innovative Concretes and Comparative Analysis with Literature Benchmarks

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Mid-term results of complex distal humeral fractures.

The aim of this study was to assess outcomes following open reduction and internal fixation in complex fractures of the distal humerus. Between 2000 and 2006, 34 patients were operated for complex fractures of the distal humerus. Bone fixation was obtained with a reverse Y-shaped reconstruction plate in 13 cases and with double plating in 21 cases. At final follow-up, all the patients were assessed with the Mayo Elbow Performance Score. Satisfactory results were observed in 71% of the cases despite a high rate of complications. Age over 65 years is correlated with increased risk for an inferior postoperative result. Complex distal humeral fractures are difficult to treat and are associated with a high incidence of complications. It is therefore mandatory to obtain good anatomical reduction and a stable fixation of lateral and medial columns of the distal humerus. The results observed in older patients suggest that an alternative treatment for these patients may be joint replacement

Correction: Unexpected optical activity of cerium in Y2O3:Ce3+, Yb3+, Er3+ up and down-conversion system

Correction for 'Unexpected optical activity of cerium in Y2O3:Ce3+, Yb3+, Er3+ up and down-conversion system' by Riccardo Marin et al., Dalton Trans., 2013, 42, 16837–16845

Thrombocytopenia induced by a taurine-containing energy drink: an adverse reaction to herbal medicine

Thrombocytopenia is a well-recognized adverse effect of many drugs. The association of thrombocytopenia with herbal remedies, nutritional supplements, foods and beverages, complementary or alternative medicines, has been rarely described. There are reports of thrombocytopenia caused by quinine-containing beverages, cow�s milk, cranberry juice, Jui, a Chinese herbal tea, Lupinus termis bean and tahini. A definite evidence of a causal association with thrombocytopenia is warranted; nevertheless not always there is provided probable or possible evidence in the association with thrombocytopenia. We report the first case, to our knowledge, of thrombocytopenia induced by taurine, present in an energy drink prescribed to our patient as tonic treatment

Infantile-Onset Charcot–Marie–Tooth Disease With Pyramidal Features and White Matter Abnormalities Due to a De novo MORC2 Gene Variant: A Case Report and Brief Review of the Literature

Background: Charcot–Marie–Tooth (CMT) is the most frequent group of inherited neuropathies and includes several heterogeneous phenotypes. Over 80 causative genes have been described so far. Variants in the microrchidia family CW-type zinc finger 2 (MORC2) gene have been described in several axonal polyneuropathy (CMT2) patients with childhood or adult onset. Occasionally more complex phenotypes with delayed milestones, severe hypotonia, intellectual disability, dystonic postures, pyramidal signs, and neuroimaging abnormalities have been reported. Case Presentation: We report on a patient with a de novo MORC2 gene variant (c.1181A&gt;G p.Tyr394Cys) with a history of developmental delay, axial hypotonia, progressive gait disorder with dystonic features, and intentional tremor. At the age of 8 years, he showed bilateral pyramidal signs (clonus, increased tendon reflexes, and Babinski sign) and bilateral pes cavus. The first neuroimaging performed at the age of 3 years demonstrated white matter abnormalities in the posterior periventricular zone, in the frontal lobes bilaterally and at the midbrain, stable during childhood and adolescence. Nerve conduction studies (NCS) were negative until the age of 15 years, when a sensory axonal neuropathy appeared. The association between pyramidal signs and neuropathy due to the MORC2 gene variant is increasingly being highlighted, although a neuroradiological correlate is evident only in about half of the cases. Longitudinal nerve conduction velocity (NCV) are helpful to identify late-onset features and provide useful information for diagnosis in patients with rare neurogenetic disorders. Conclusions: Characterization of complex neurological disorders is important to delineate the expanding phenotypic spectrum of MORC2-related disease, to confirm if possible the pathogenicity of the variants and to deepen the genotype–phenotype correlation

Donor Cell Acute Myeloid Leukemia after Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease: A Case Report and Literature Review

The patient reported here underwent hematopoietic stem cell transplantation (HSCT) due to chronic granulomatous disease (CGD) caused by biallelic mutations of the NCF1 gene. Two years later, he developed AML, which was unexpected and was recognized via sex-mismatched chromosomes as deriving from the donor cells; the patient was male, and the donor was his sister. Donor cell leukemia (DCL) is very rare, and it had never been reported in patients with CGD after HSCT. In the subsequent ten years, the AML relapsed three times and the patient underwent chemotherapy and three further HSCTs; donors were the same sister from the first HSCT, an unrelated donor, and his mother. The patient died during the third relapse. The DCL was characterized since onset by an acquired translocation between chromosomes 9 and 11, with a molecular rearrangement between the MLL and MLLT3 genes-a quite frequent cause of AML. In all of the relapses, the malignant clone had XX sex chromosomes and this rearrangement, thus indicating that it was always the original clone derived from the transplanted sister's cells. It exhibited the ability to remain quiescent in the BM during repeated chemotherapy courses, remission periods and HSCT. The leukemic clone then acquired different additional anomalies during the ten years of follow-up, with cytogenetic results characterized both by anomalies frequent in AML and by different, non-recurrent changes. This type of cytogenetic course is uncommon in AML