HMSN-P associated with TFG P.PRO285LEU variant in an Italian family

2021 ◽  
Vol 429 ◽  
pp. 119383
Author(s):  
Sara Cabras ◽  
Salvatore Gallone ◽  
Francesca Di Pede ◽  
Antonio Canosa ◽  
Andrea Calvo ◽  
...  
Keyword(s):  
1986 ◽  
Vol 56 (03) ◽  
pp. 349-352 ◽  
Author(s):  
A Tripodi ◽  
A Krachmalnicoff ◽  
P M Mannucci

SummaryFour members of an Italian family (two with histories of venous thromboembolism) had a qualitative defect of antithrombin III reflected by normal antigen concentrations and halfnormal antithrombin activity with or without heparin. Anti-factor Xa activities were consistently borderline low (about 70% of normal). For the propositus’ plasma and serum the patterns of antithrombin III in crossed-immunoelectrophoresis with or without heparin were indistinguishable from those of normal plasma or serum. A normal affinity of antithrombin III for heparin was documented by heparin-sepharose chromatography. Affinity adsorption of the propositus’ plasma to human α-thrombin immobilized on sepharose beads revealed defective binding of the anti thrombin III to thrombin-sepharose. Hence the molecular defect of this variant appears to be at the active site responsible for binding and neutralizing thrombin, thus accounting for the low thrombin inhibitory activity.


2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Fabio Antonaci ◽  
Sabrina Ravaglia ◽  
Gaetano S. Grieco ◽  
Stella Gagliardi ◽  
Cristina Cereda ◽  
...  

Abstract Background The mechanisms of genotype-phenotype interaction in Familiar Hemiplegic migraine type 2 (FHM2) are still far from clear. Different ATP1A2 mutations have been described, with a spectrum of phenotypes ranging from mild to severe. No genotype-phenotype correlations have been attempted. Case presentation We describe an Italian family with FHM and a missense ATP1A2 variant (L425H) not previously described. The clinical picture was mild in all the affected members. Conclusions Co-segregation of the variant with the aura phenotype was complete in this family, suggesting a 100% penetrance. In silico protein prediction softwares indicate that this variant may change the 3D structure of ATPA1A2 at the cytoplasmic loop between the two central transmembrane helices. Milder FHM phenotypes are rarely reported in literature, likely because case reports are biased towards the most severe phenotypes, with milder forms possibly misdiagnosed as sporadic migraine with aura forms (MAs), even with complex auras. Further studies taking into account intra-familiar variability and functional consequences on the channel protein may help clarify genotype-phenotype correlations.


2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Federico Zanfi ◽  
Chiara Merlini ◽  
Viviana Giavarini ◽  
Fabio Manfredini

AbstractThe ‘family house’ has played a major role within the urbanisation processes that have been transforming the Italian landscape since the 1960s. It is a common feature of the widespread settlements that are part of what has been labelled the ‘diffuse city’ and was the subject of numerous studies during the 1990s. More than 20 years later, this paper returns to the topic of the Italian family house using a renewed methodological approach to describe relevant changes. The hypothesis here is that in order to grasp the tensions affecting ‘family houses’ in today’s context of demographic transition and increased imbalances between dynamic and declining areas, and to contemplate their future, the qualitative gaze adopted by scholars in the 1990s must be integrated with other investigative tools, focusing on demographic change, uses, and the property values of buildings. Using this perspective, the paper provides a series of ‘portraits’ rooted in four meaningful territorial contexts, portraits which may help scholars to redefine their imagery associated with family house and be useful for dedicated building policies.


2006 ◽  
Vol 14 (7S_Part_20) ◽  
pp. P1112-P1113
Author(s):  
Celeste Montecchiani ◽  
Roberto Rumore ◽  
Fabrizio Gaudiello ◽  
Marialuisa Miele ◽  
Carlo Caltagirone ◽  
...  

2016 ◽  
Vol 7 ◽  
Author(s):  
Marco Ceccanti ◽  
Chiara Cambieri ◽  
Vittorio Frasca ◽  
Emanuela Onesti ◽  
Antonella Biasiotta ◽  
...  

2016 ◽  
Vol 610 ◽  
pp. 150-153 ◽  
Author(s):  
Andrea Tedde ◽  
Antonella Bartoli ◽  
Irene Piaceri ◽  
Sara Ferrara ◽  
Silvia Bagnoli ◽  
...  

Endocrine ◽  
2021 ◽  
Author(s):  
Carlotta Marzocchi ◽  
Silvia Cantara ◽  
Alfonso Sagnella ◽  
Maria Grazia Castagna ◽  
Marco Capezzone

Abstract Purpose Familial neurohypophysial diabetes insipidus (FNDI), commonly caused by autosomal dominant arginine vasopressin (AVP) mutations, is a rare condition in which vasopressin fails in regulating body’s level of water with final polyuria and polydipsia. Genetic testing in familial cases of FNDI should be carry out to ensure adequate treatments and avoid disease manifestations especially in infants. Methods In this study, we investigated three-generations of a large Italian family with clinical diagnosis of familial central diabetes insipidus for the presence of potential pathogenic mutations in the AVP gene. Results We identified a heterozygous missense mutation (c.154 T > A; p.C52S) in AVP gene in all affected members studied of a large Italian family. In silico tools were used to investigate the pathogenic role of the mutation and three-dimensional protein structure predicted that the p.C52S impairs disulfide bridges formation resulting in misfolding of the protein. Conclusions This is the first study that identified a novel missense p.C52S mutation as causative of central diabetes insipidus in a large Italian pedigree.


2017 ◽  
Vol 60 (3) ◽  
pp. 195-199
Author(s):  
Paolo Fontana ◽  
Cristina Tortora ◽  
Roberta Petillo ◽  
Michela Malacarne ◽  
Simona Cavani ◽  
...  
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