A5078498200- Muscle Physiology and Disorders
- Bone health and osteoporosis research
- Neurogenetic and Muscular Disorders Research
- Liver Disease Diagnosis and Treatment
- Nutrition and Health in Aging
- Bone health and treatments
- Body Composition Measurement Techniques
- Congenital Anomalies and Fetal Surgery
- Childhood Cancer Survivors' Quality of Life
- Medical Imaging and Pathology Studies
- Parathyroid Disorders and Treatments
- Bone and Joint Diseases
- Neuroblastoma Research and Treatments
- Osteomyelitis and Bone Disorders Research
- Cerebral Palsy and Movement Disorders
- Biochemical and Molecular Research
- Adenosine and Purinergic Signaling
- Liver Diseases and Immunity
- Alkaline Phosphatase Research Studies
- Hepatitis B Virus Studies
- Glycogen Storage Diseases and Myoclonus
- Neurological disorders and treatments
- Aldose Reductase and Taurine
- Cancer Diagnosis and Treatment
- Vitamin D Research Studies
IRCCS Istituto Auxologico Italiano
2010-2024
Istituti di Ricovero e Cura a Carattere Scientifico
2007-2022
Medical University of Lodz
2007
San Raffaele University of Rome
1998
Vita-Salute San Raffaele University
1997
Epidemiological studies support the hypothesis that genetic factors modulate risk for diabetic nephropathy (DN). Aldose reductase (ALDR1), rate-limiting enzyme in polyol pathway, is a potential candidate gene. The present study explores polymorphisms of (A-C)n dinucleotide repeat sequence, located 2.1 kb upstream transcription start site, ALDR1 gene expression and DN. We conducted at two different institutions, University New Mexico Health Sciences Center (UNMHSC), Istituto Scientifico H San...
The ability of low-intensity vibration (LIV) to combat skeletal decline in Duchenne Muscular Dystrophy (DMD) was evaluated a randomized controlled trial. Twenty DMD boys were enrolled, all ambulant and treated with glucocorticoids (mean age 7.6, height-adjusted Z-scores [HAZ] hip bone mineral density [BMD] -2.3). Ten assigned stand for 10 min/d on an active LIV platform (0.4 g at 30 Hz), while stood placebo device. Baseline 14-month content (BMC) BMD spine, hip, total body measured DXA,...
Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | 1479-6848 (online)
Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | 1479-6848 (online)
Glycogen storage disease (GSD) is the most prevalent inherited disorder of glycogen metabolism for which no causal treatment available. In recent years, thanks to improved clinical management, life expectancy these patients extended, disclosing previously unidentified adverse conditions in other organs. this study, we evaluated bone complications and cellular responses 20 (aged 14.1 ± 3.4 years) affected by GSD type I. Fragility fractures were reported 35% patients, older than unfractured...
Adenosine Deaminase 2 Deficiency (DADA2) syndrome is a rare monogenic disorder prevalently linked to recessive inherited loss of function mutations in the
Searchable abstracts of presentations at key conferences on calcified tissues ISSN 2052-1219 (online)
Searchable abstracts of presentations at key conferences on calcified tissues ISSN 2052-1219 (online)