Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations : A case report

Alpha-dystroglycanopathies are a group of progressive and untreatable neuromuscular disorders, due to aberrant alpha-dystroglycan glycosylation. We describe the effects of a short-term cycle of corticosteroid therapy in a 9-year-old boy, affected by an alpha-dystroglycanopathy due to GMPPB gene mutations. The patient was affected by a congenital progressive muscular dystrophy since the first month of life, associated with psychomotor delay, seizures, and congenital bilateral cataracts. Despite physical therapy he had a progressive motor impairment. At the age of 9 years, he was treated with 0.75 mg/kg/day of prednisone for 3 months and showed improvements in muscle strength and function scores and creatine kinase reduction. When steroid therapy was discontinued he showed again clinical and biochemical deterioration. These data suggest that corticosteroid may be considered as a treatment for patients with alpha-dystroglycanopathies due to GMPPB mutations. (C) 2018 Elsevier B.V. All rights reserved.Peer reviewe

Multiplet features and magnetic properties of Fe on Cu(111): From single atoms to small clusters

The observation of sharp atomiclike multiplet features is unexpected for individual 3d atoms adsorbed on transition-metal surfaces. However, we show by means of x-ray absorption spectroscopy and x-ray magnetic circular dichroism that individual Fe atoms on Cu(111) exhibit such features. They are reminiscent of a low degree of hybridization, similar to 3d atoms adsorbed on alkali-metal surfaces. We determine the spin, orbital, and total magnetic moments, as well as magnetic anisotropy energy for the individual Fe atoms and for small Fe clusters that we form by increasing the coverage. The multiplet features are smoothened and the orbital moment rapidly decreases with increasing cluster size. For Fe monomers, comparison with density functional theory and multiplet calculations reveals a d(7) electronic configuration, owing to the transfer of one electron from the 4s to the 3d states

Two-Orbital Kondo Screening in a Self-Assembled Metal Organic Complex

Iron atoms adsorbed on a Cu(111) surface and buried under polyphenyl dicarbonitrile molecules exhibit strongly spatial anisotropic Kondo features with directionally dependent Kondo temperatures and line shapes, as evidenced by scanning tunneling spectroscopy. First-principles calculations find nearly full polarization for the half-filled Fe 3d(xz) and 3d(yz) orbitals, which therefore can give rise to Kondo screening with the experimentally observed directional dependence and distinct Kondo temperatures. X-ray absorption spectroscopy and X-ray magnetic circular dichroism measurements confirm that the spin in both channels is effectively Kondo-screened. At ideal Fe coverage, these two-orbital Kondo impurities are arranged in a self-assembled honeycomb superlattice

Behavioral and psychological effects of coronavirus disease-19 quarantine in patients with dementia

Background: In March 2020, the World Health Organization declared a global pandemic due to the novel coronavirus SARS-CoV-2 and several governments planned a national quarantine in order to control the virus spread. Acute psychological effects of quarantine in frail elderly subjects with special needs, such as patients with dementia, have been poorly investigated. The aim of this study was to assess modifications of neuropsychiatric symptoms during quarantine in patients with dementia and their caregivers. Methods: This is a sub-study of a multicenter nation-wide survey. A structured telephone interview was delivered to family caregivers of patients with diagnosis of Alzheimer disease (AD), dementia with Lewy bodies (DLB), frontotemporal dementia (FTD), and vascular dementia (VD), followed regularly at 87 Italian memory clinics. Variations in behavioral and psychological symptoms (BPSD) were collected after 1 month since quarantine declaration and associations with disease type, severity, gender, and caregiver\u2019s stress burden were analyzed. Results: A total of 4,913 caregivers participated in the survey. Increased BPSD was reported in 59.6% of patients as worsening of preexisting symptoms (51.9%) or as new onset (26%), and requested drug modifications in 27.6% of these cases. Irritability, apathy, agitation, and anxiety were the most frequently reported worsening symptoms and sleep disorder and irritability the most frequent new symptoms. Profile of BPSD varied according to dementia type, disease severity, and patients\u2019 gender. Anxiety and depression were associated with a diagnosis of AD (OR 1.35, CI: 1.12\u20131.62), mild to moderate disease severity and female gender. DLB was significantly associated with a higher risk of worsening hallucinations (OR 5.29, CI 3.66\u20137.64) and sleep disorder (OR 1.69, CI 1.25\u20132.29), FTD with wandering (OR 1.62, CI 1.12\u20132.35), and change of appetite (OR 1.52, CI 1.03\u20132.25). Stress-related symptoms were experienced by two-thirds of caregivers and were associated with increased patients\u2019 neuropsychiatric burden (p<0.0001). Conclusion: Quarantine induces a rapid increase of BPSD in approximately 60% of patients and stress-related symptoms in two-thirds of caregivers. Health services need to plan a post-pandemic strategy in order to address these emerging needs

Physicochemical and immunological studies on mammalian 5'-deoxy-5'-methylthioadenosine phosphorylase

5'-Deoxy-5'-methylthioadenosine phosphorylase (MTAase) was purified to homogeneity (10,000-fold) from bovine liver with a recovery of 12%. The pure protein shows a molecular weight of about 98,000 +/- 3,000 and is composed of three apparently identical subunits. Several physicochemical features have been investigated including hydrodynamic properties, amino acid composition, and secondary structure. In particular, the CD spectrum of the protein indicates a very low alpha-helical content and a large percent of beta-structure and random coil. The pure protein was used to raise specific rabbit antisera but, because of the scarce antigenic properties of the native enzyme, different chemically modified forms were prepared and employed as immunogens. Among the antibodies obtained, those to keyhole limpet hemocyanin-MTAase recognize both the native and the denatured enzyme and are also active against the human protein. Therefore, they were employed as a tool to investigate the occurrence of inactive forms of MTAase in two human malignant cell lines lacking this enzymatic activity. The results obtained with K562 and Jurkat cells indicate that the protein is absent in these phosphorylase-deficient cell lines