Showing 988499–988512 of 988,749 results for "Licciardello Maria"

Journals 2015 EN

Garrison Institute on Aging: A New Hope for Elderly Individuals and Patients with Alzheimer’s Disease

P. Hemachandra Reddy · Joan Blackmon · Veronica MolinarLopez +13 more

The Garrison Institute on Aging (GIA) is an established institute within Texas Tech University Health Sciences Center, whose mission is to promote healthy aging through cutting-edge research on Alzheimer's disease (AD) and other diseases of aging through innovative educational opportunities for students, clinicians, researchers, health care professionals, and the public. The GIA has multiple programs, including both research and education on healthy aging and AD, community outreach, caregiving, the Retired Senior Volunteer Program, Healthy Lubbock, the GIA Brain Bank, healthy aging seminars, research seminars, and collaborations and scholarships. The GIA programs connect basic and clinical researchers and health care professionals, and provide a unique environment to help our growing elderly population and patients with AD and their families.

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Journals 2015 EN

Erwinia pyrifoliae, a new pathogen on strawberry in the Netherlands1

M. Wenneker · Maria Bergsma-Vlami

BACKGROUND: During the late spring of 2013 strawberry plants grown under protection (Fragaria x ananassa cv. Elsanta) were found at several locations in the Netherlands showing an intense brown to black discoloration of their immature fruits, their fruit calyx and the attached stems. OBJECTIVE: Identification of a new bacterial disease on strawberry. METHOD: Identification and characterization was based on the requirements of EPPO (European and Mediterranean Plant Protection Organization), followed by a pathogenicity test on strawberry plants for verification of the virulence. RESULTS: The isolates exhibited biochemical profiles closely related to Erwinia pyrifoliae reference strain LMG 25888. The isolates were further identified as E. pyrifoliae based on the real time PCR assay. Pathogenicity of several isolates was tested and confirmed on potted strawberry plants (cvs. Elsanta and Selva). CONCLUSION: Erwinia pyrifoliae is a pathogen on strawberry. Thus far occurrence of this pathogen on strawberry has not been reported nor its presence outside Asia.

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Journals 2015 EN

Analysis of White Adipose Tissue Gene Expression Reveals CREB1 Pathway Altered in Huntington’s Disease

Andrew C. McCourt · Jennifer K. Parker · Edina Silajdžić +5 more

In addition to classical neurological symptoms, Huntington's disease (HD) is complicated by peripheral pathology and both the mutant gene and the protein are found in cells and tissues throughout the body. Despite the adipose tissue gene expression alterations described in HD mouse models, adipose tissue and its gene expression signature have not been previously explored in human HD.

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Journals 2015 EN

Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease

Maria Wesołowska · Gráinne S. Gorman · Charlotte L. Alston +10 more

Mitochondrial disease can present at any age, with dysfunction in almost any tissue making diagnosis a challenge. It can result from inherited or sporadic mutations in either the mitochondrial or the nuclear genome, many of which affect intraorganellar gene expression. The estimated prevalence of 1/4300 indicates these to be amongst the commonest inherited neuromuscular disorders, emphasising the importance of recognition of the diagnostic clinical features.

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Journals 2015 EN

Prevalence of Asymptomatic Vertebral Fractures in Late-Onset Pompe Disease

Francesco Bertoldo · Francesca Zappini · Martina Brigo +11 more

Francesco Bertoldo1,*, Francesca Zappini2, Martina Brigo1, Maurizio Moggio3, Valeria Lucchini3, Corrado Angelini4, Claudio Semplicini4, Massimiliano Filosto5, Sabrina Ravaglia6, Sofi a Cotelli5, Alice Todeschini5, Mauro Scarpelli2, Serena Pancheri1 and Paola Tonin2 Internal Medicine, Department of Medicine, University of Verona, Verona, Italy Department of Neurological Sciences and Movement, University of Verona, Verona, Italy Neuromuscular Unit, University of Milan, Milan, Italy Department of Neurosciences – Sciences NPSRR, University of Padua, Padua, Italy Department of Clinical Neurology, University Hospital “Spedali Civili”, Brescia, Italy Department of Public Health and Neurosciences, University of Pavia, Pavia, Italy Journal of Neuromuscular Diseases 1 (2015) S13 DOI 10.3233/JND-159013 IOS Press

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Journals 2015 EN

A Case of Normal Pressure Hydrocephalus in Adult-Onset Pompe Disease

Maria Chiara D’Amico · V. Di Tommaso · Roberta Di Giacomo +2 more

A 65-year-old man, who was diagnosed with Pompe disease when he was 50 years, developed memory loss and urinary urgency. His medical history showed severe left hip arthrosis with osteonecrosis which caused intense pain and functional limitations. The patient was also affected by chronic obstructive pulmonary disease, benign prostatic hyperplasia, and hyperamylasemia. Examination revealed a lack of strength in the deltoid muscles (bilateral F = 3), biceps brachii muscles (bilateral F = 4.5), gluteus maximus muscles (bilateral F = 4.5), bilateral iliopsoas muscles (F = 4), and tibialis anterior muscles (bilateral F = 4), hyperlordosis, right winged scapula, anserine gait, which was only possible with unilateral support, and an inability to completely abduct the arms. No extrapyramidal signs were observed except for postural instability, which might also be compatible with the weakness of pelvic muscles. The patient underwent psychometric tests which revealed Mini-Mental-State-Examination score equal to 24 (adequate to age and schooling) and short memory loss. Brain MRI showed increased dimension of ventricular system with reduced subarachnoid cavities and periventricular hyperintensity, supporting normal pressure hydrocephalus and, moreover, atrophy of the A Case of Normal Pressure Hydrocephalus in Adult-Onset Pompe Disease

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Journals 2015 EN

Clinical and Treatment Management Decisions in Two Asymptomatic Late-Onset Pompe Disease Siblings – Further Evidence of Scoliosis as a Clinical Sentinel Sign for Juvenile Pompe Disease

Juan Clinton Llerena · Ana Carolina Esposito · Anneliese Lopes Barth +8 more

disease patient was identifi ed by chance through his dermatologist due to partial alopecia. Through high CK (1,310 IU/L) and muscle/hepatic biomarkers (AST, 162 IU/L; ALT, 189 IU/L) a muscle biopsy was performed revealing vacuolated muscle pathology with H-E and PAS stains. A compound heterozygote pathogenic GAA genotype was detected (-32-13 Tu003eG/ c.2560Cu003eT). A series of clinical and laboratory evaluations identifi ed several abnormal clinical signs, despite the absence of clinical symptoms. As the patient had a positive DBS, diminished GAA activity in leukocytes (0.56 nml/h/mg protein – RV: 1.0–5.9), high urinary GLc4 levels on HPLC, abnormal FVC drop during sitting–supine transition (u003e14%), and abnormalities on his tongue and edema of his thighs, seen on MRI, the decision was taken to initiate enzymatic replacement therapy (ERT) with 20 mg/kg rhGAA (Myozyme®), even though no subjective clinical symptoms were present. After 4 years on ERT treatment and motor/respiratory rehabilitation programs, all clinical parameters worsened, especially CK levels, muscle MRI with an overall muscle substitution for fat with muscle mass volume reduction; and a higher FVC drop during sitting–supine transiti on (u003e18%) were noted. Based on these clinical and laboClinical and Treatment Management Decisions in Two Asymptomatic Late-Onset Pompe Disease Siblings – Further Evidence of Scoliosis as a Clinical Sentinel Sign for Juvenile Pompe Disease

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Journals 2015 EN

First Case of Late-Onset Glycogen Storage Disease Type II in Russia with a Novel Mutation

С. С. Никитин · Maria O. Kovalchuk · Е. А. Проскурина +1 more

recessive disorder resulting from a defi ciency of acid α-glucosidase (GAA, or acid maltase), includes two main forms – infantileand late-onset glycogen storage disease type II (GSD II). Despite the age of onset and different life prognosis, Pompe disease is a single disease continuum with variable rates of disease progression and different ages of onset. The late-onset form of Pompe disease (LOPD) is a well-known milder form of the GSD II. A 66-years-old man with diffi culties climbing stairs and walking (6MWT less than 10 m), breathing problems, particularly at night when lying down, and abnormal spinal lordosis is described here. The initial signs of the disease were subtle and unrecognized for more than 30 years: inability to whistle since childhood, diffi culties in running long distances, pull-ups and chin-ups, playing running games while being in the army, shortness of breath since age 40 years and periodical general inexplicable fatigue since 45 years; myopathic symptoms, such as force decrease of the hips, pelvic, and trunk muscles, proximal leg muscle atrophy and progressive course of motor disturbances became obvious at age 50 and the patient was classifi ed as having ‘limb–girdle muscular dystrophy of late First Case of Late-Onset Glycogen Storage Disease Type II in Russia with a Novel Mutation

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