A5066342388- Lysosomal Storage Disorders Research
- Glycogen Storage Diseases and Myoclonus
- Tracheal and airway disorders
- Meningioma and schwannoma management
- Neurofibromatosis and Schwannoma Cases
- Nutritional Studies and Diet
- Congenital Diaphragmatic Hernia Studies
- Vitamin D Research Studies
- Pleural and Pulmonary Diseases
- Sarcoma Diagnosis and Treatment
- Muscle Physiology and Disorders
- Liver Disease Diagnosis and Treatment
- Esophageal and GI Pathology
- Parkinson's Disease and Spinal Disorders
- Genetic Neurodegenerative Diseases
- Cancer, Hypoxia, and Metabolism
- Neuroblastoma Research and Treatments
- Parkinson's Disease Mechanisms and Treatments
- Carbohydrate Chemistry and Synthesis
- Growth Hormone and Insulin-like Growth Factors
- Pituitary Gland Disorders and Treatments
- Cell Adhesion Molecules Research
- Cardiomyopathy and Myosin Studies
- Renal Diseases and Glomerulopathies
- Autophagy in Disease and Therapy
University of Campania "Luigi Vanvitelli"
2009-2023
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
2016-2023
Ospedale Monaldi
2022
National Research Council
2014-2021
Institute of Genetics and Biophysics
2014-2021
University of Milan
2017-2021
Ospedale Maggiore
2019
University of Salerno
2013-2017
National Academies of Sciences, Engineering, and Medicine
2013
University of Naples Federico II
2009
Epidemiological data indicate that subjects affected by obesity have an increased risk of developing mood disorders. The relationship between and disorders is bidirectional. We assessed whether a Hericium erinaceus treatment improved depression, anxiety, sleep, binge eating after 8 weeks supplementation in overweight or under low calorie diet regimen. Looking for possible clinical biomarker, we the serum balance brain-derived neurotrophic factor (BDNF) its precursor pro-BDNF before H....
We report an Italian family in which the proband showed a severe phenotype characterized by association of congenital fiber type disproportion (CFTD) with left ventricular non-compaction cardiomyopathy (LVNC). This study was focused on identification responsible gene/s.Using whole-exome sequencing approach, we identified homozygous missense mutations two genes, myosin heavy chain 7B (MYH7B) and integrin alpha 7 (ITGA7). Both genes are expressed heart muscle tissues, both were predicted to be...
The laminin alpha 5 gene (LAMA5) plays a master role in the maintenance and function of extracellular matrix (ECM) mammalian tissues, which is critical developmental patterning, stem cell niches, cancer genetic diseases. Its mutations have never been reported human disease so far. aim this study was to associate first mutation LAMA5 novel multisystem syndrome.A detailed characterisation three-generation family, including clinical, biochemical, instrumental morphological analysis, together...
Duchenne muscular dystrophy is an inherited fatal genetic disease characterized by mutations in dystrophin gene, causing membrane fragility leading to myofiber necrosis and inflammatory cell recruitment dystrophic muscles. The resulting environment enriched proinflammatory cytokines, like IFN-γ TNF-α, determines the transformation of constitutive proteasome into immunoproteasome, a multisubunit complex involved activation cell-mediate immunity. This event has fundamental role producing...
Neurofibromatosis type 1 (NF1) is one of the most common genetic tumor predisposition syndrome, caused by mutations in NF1. To date, few genotype-phenotype correlations have been discerned NF1, due to a highly variable clinical presentation. We aimed study molecular spectrum NF1 and monocentric cohort 85 patients (20 relatives, 65 sporadic cases). Clinical data were collected at time mutation analysis reviewed for accuracy this investigation. An internal phenotypic categorization was...
Our goal is to determine whether infiltration with a short-acting local anaesthetic such as lidocaine before the surgical incision has pre-emptive effect on postoperative pain intensity and incidence of paraesthesia in patients undergoing standard thoracoscopic sympathectomy for palmar hyperhidrosis.This prospective study includes consecutive series 18 bilateral hyperhidrosis during January 2005-December 2007. Each patient enrolled was randomised receive pre-incisional epinephrine wounds one...
Choriocarcinoma is a germ cell tumor containing syncytiotrophoblastic cells and secreting human Beta-HCG. Primary choriocarcinoma of the lung extremely uncommon. The prognosis this poor, despite surgical chemotherapeutic treatment. We report surgically treated case in 37-year-old woman who came to our attention because isolated lesion. was successfully resected. Chemotherapy started 2 months after thoracic surgery consisted bleomycin, etoposide, cisplatin. At 1-year follow-up patient alive...
Thymectomy is the main treatment for thymoma and patients with myasthenia gravis (MG). The traditional approach through a median sternotomy, but, recently, thymectomy minimally invasive approaches increasingly performed. Our purpose an analysis discussion of clinical presentation, diagnostic procedures surgical technique. We also consider post-operative complications results, over period 5 years (May 2011-June 2016), in thymic masses admitted our Thoracic Surgery Unit.We analyzed 8 who...
We recently described a complex multisystem syndrome in which mild‐moderate myopia segregated as an independent trait. A plethora of genes has been related to sporadic and familial myopia. More recently, Chinese patients severe (MYP25, OMIM:617238) linked mutations P4HA2 gene. Seven family members complaining reduced distance vision especially at dusk underwent complete ophthalmological examination. Whole‐exome sequencing was performed identify the gene responsible for pedigree. Moderate...
Glycated haemoglobin (HbA1c) test, introduced for diagnosing prediabetes and diabetes by the American Diabetes Association some years, is currently under extensive discussion contradictory data on concordance between this test oral glucose tolerance (OGTT).To assess HbA1c OGTT to diagnose in subjects with overweight or obesity, focusing possible gender-related differences.A total of 949 outpatients obesity at risk (mean age 50 ± 15 years; 660 F) were enrolled underwent OGTT.In both genders,...
Pulmonary sequestration is an uncommon disease, accounting for only approximately 1.5% of all congenital pulmonary malformations. In most cases, the diagnosis a result accidental radiological findings; it rarely accompanied by clinical symptoms, and more commonly associated with other Herein, we reported case presented as massive left hemothorax primary lung sarcoma. A pneumonectomy via thoracotomy was attended complete resection The postoperative course unremarkable, patient discharged on day 11.
Objective: In recent years, the welfare of workers and prevention chronic disabling diseases has become a topic great interest. This study investigates serum levels total 25-hydroxyvitamin D (25(OH)D) in cohort overweight–obese insulin-resistant northern Italian indoor apparent good health followed nutritional education program.Methods: An observational cross-sectional on 385 patients (females = 291, males 94), age range 18–69 years body mass index (BMI) > 25 kg/m2, was performed at...
Autosomal recessive Pompe disease is a lysosomal disorder caused by mutations of the acid‐α‐glucosidase (GAA) gene. Deficiency GAA enzyme leads to glycogen accumulation and autophagy impairment in cardiac skeletal muscles, but also lymphocytes. Since an effective therapy available, rapid, sensitive, specific test crucial early identify affected subjects. Number lymphocytes containing PAS‐positive vacuoles was evaluated on blood films from 72 consecutive adult patients with hyperckemia and/or...
The mechanical stapler is routinely used in thoracic surgery practice to attend resection of bronchus and vessels. Herein, we reported a very rare complication as the migration titanium surgical clip through right lobectomy stump. One year after procedure, patient complained persistent cough. A misdiagnosis asthma was made she treated for 6 months with bronchodilators, corticosteroid antihistaminic without success. Thus, re-referred our unit. No clinical signs infection fewer, productive...
This study is the first to quantitatively characterize sagittal spine and whole body posture of patients with late-onset Pompe disease during walking, showing a pathological kinematic pattern defined “man falling backwards.” 3-D-motion analysis, specific marker set (DB-total protocol) introducing new parameters, may be useful for accurate functional evaluation monitoring this rare disease.
The superior sagittal sinus (SSS) of the mammalian brain is a pain-sensitive intracranial vessel thought to play role in pathogenesis migraine headaches. Here, we aimed investigate presence and potential co-localization some neurotransmitters human SSS. Immunohistochemical double-labeling immunofluorescence analyses were applied paraformaldehyde-fixed, paraffin-embedded, coronal sections Protein extraction Western blotting technique performed on same material confirm morphological data. Our...
Late Onset Pompe Disease (LOPD) is a rare myopathy characterized by prevailing weakness of trunk and pelvic girdle muscles that causes motor disabilities. Spinal deformities have been reported unclearly on clinical examination. No study quantitatively assessed upright posture defining specific alterations LOPD various phenotype.Identify postural abnormalities in homogeneous group patients using 3D Stereophotogrammetry (St) x-Ray (xR).Seven siblings were recruited. They scales and, posture,...
Spontaneous pneumothorax is a rare complication of chemotherapy for lung neoplasm. Herein, we report case right spontaneous occurring in patient whom metastases from synovial cell sarcoma were treated with combination chemotherapy. Chest tube alone was unable to attempt the resolution air leaks. Thus, it connected gentle suction set at minus 15 cm water which achieved complete re-expansion reduction In closure, chemical pleurodesis attempted using 5 gram talc diluted 50 ml normal saline...
Descending necrotizing mediastinitis is a life-threatening complication of an oropharyngeal infection that requires prompt and aggressive medical surgical therapy. Herein, we report unusual case man suffering sub-acute mediastinal due to odontoiatric abscess which exacerbated at 3 months after its first presentation. Chest X-ray CT scan demonstrated soft-tissue swelling the neck encapsulated fluid collections with gas bubbles within anterior mediastinum, especially on right side. Bilateral...