A5056919578- Tracheal and airway disorders
- Ion Transport and Channel Regulation
- Ion channel regulation and function
- Hepatitis B Virus Studies
- Amino Acid Enzymes and Metabolism
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Reproductive Biology and Fertility
- Hepatitis C virus research
- Viral Infections and Immunology Research
- Ectopic Pregnancy Diagnosis and Management
- Medical Imaging and Pathology Studies
- Ovarian function and disorders
Azienda Ospedaliero Universitario Mater Domini
2015-2016
Magna Graecia University
2013-2016
Creative Research Enterprises (United States)
2016
University of Rome Tor Vergata
2015
Pulmonary alveolar microlithiasis is a disorder in which many tiny fragments (microliths) of calcium phosphate gradually accumulate alveoli. Loss function mutations the gene SLC34A2 coding for sodium co-transporter (NaPi-IIb) are responsible genetic forms microlithiasis. We now report consanguineous Italian family from Calabria with two affected members segregating recessive fashion. describe, first time, novel loss mutation NaPi-IIb. A careful description clinical phenotype provided...
Objective . To assess aetiology of a POF in 33-year-old woman and, if possible, plan cure. Design Case report. Setting medical genetics diagnostic unit university hospital. Patient A with premature ovarian failure (POF). Intervention(s) Genetic counseling, karyotyping, FISH study. Result(s) Turner-like diagnosis. Conclusion(s) Most cases remain idiopathic. Turner syndrome can occur very different phenotypes; cytogenetic and molecular profiling provide definitive diagnosis nonclassical phenotype.
Gitelman's syndrome (GS) is a salt-losing tubulopathy with an autosomal recessive inheritance caused by mutations of SLC12A3 , which encodes for the thiazidesensitive NaCl cotransporter.In this study we report new mutation found in two brothers affected GS.Hypokalemia, hypocalciuria and hyperreninemia were present both patients while hypomagnesemia was detected only one.Both are compound heterozygotes carrying one well known GS associated (c.2581 C > T) (c.283delC) gene.The results possible...
Hepatitis C virus (HCV) infection represents a great public healthcare challenge as it affects nearly 170 million individuals worldwide.Therefore, the deep investigation of mechanisms involved in pathogenesis chronic hepatitis induced by HCV is crucial step design novel targeted therapies for treatment this condition.However, techniques molecular biology to characterize proteins can suffer intrinsic limitations due high mutation rates genome.In study, we propose strategy synthesize viral...