scholarly journals Two founder mutations in theSEC23Bgene account for the relatively high frequency of CDA II in the Italian population

2011 ◽  
Vol 86 (9) ◽  
pp. 727-732 ◽  
Author(s):  
Roberta Russo ◽  
Antonella Gambale ◽  
Maria Rosaria Esposito ◽  
Maria Luisa Serra ◽  
Annaelena Troiano ◽  
...  
Keyword(s):  
High Frequency ◽  
Italian Population ◽  
Founder Mutations ◽  
Cda Ii

High frequency and allele-specific differences of BRCA1 founder mutations in breast cancer and ovarian cancer patients from Belarus

2010 ◽  
Vol 78 (4) ◽  
pp. 364-372 ◽  
Author(s):  
NV Bogdanova ◽  
NN Antonenkova ◽  
YI Rogov ◽  
JH Karstens ◽  
P Hillemanns ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Cancer Patients ◽  
High Frequency ◽  
Founder Mutations ◽  
Allele Specific

High Frequency of BRCA1 Founder Mutations in the Bahamas.

2009 ◽  
Author(s):  
T. Donenberg ◽  
J. Lunn ◽  
T. Turnquest ◽  
D. Curling ◽  
E. Krill-Jackson ◽  
...  
Keyword(s):  
High Frequency ◽  
Founder Mutations ◽  
The Bahamas

High frequency hearing loss in the elderly: effect of age and noise exposure in an Italian group

2011 ◽  
Vol 125 (8) ◽  
pp. 776-780 ◽  
Author(s):  
A Ciorba ◽  
A Benatti ◽  
C Bianchini ◽  
C Aimoni ◽  
S Volpato ◽  
...  
Keyword(s):  
High Frequency ◽  
Noise Exposure ◽  
The Elderly ◽  
Italian Population ◽  
High Frequency Hearing Loss ◽  
High Frequencies ◽  
Threshold Difference ◽  
Hearing Thresholds ◽  
And Gender ◽  
Effect Of Age

AbstractObjective:To describe the effect of age and noise on high frequency hearing thresholds in an Italian population aged 70 years and older, in order to investigate the interaction between presbycusis and noise exposure.Methods:We compared 460 subjects: 367 affected by presbycusis alone (204 women and 163 men) and 93 affected by presbycusis and noise exposure (eight women and 85 men). Pure tone average hearing thresholds, for each ear, were compared between groups, and between sexes and ages within groups.Results:A slight threshold difference was found between the two groups at 4 kHz. After adjusting for age and gender, this difference was found to be related only to differing patient age. Men's and women's thresholds differed significantly in both groups, especially at high frequencies, at which threshold deterioration was worse in men than women.Conclusion:The threshold differences between patients with presbycusis with and without noise exposure were limited. Larger studies are needed to assess the relative effects of ageing and noise exposure on hearing thresholds.

High frequency of BRCA1 founder mutations in Polish women with nonfamilial breast cancer

2012 ◽  
Vol 11 (4) ◽  
pp. 623-628 ◽  
Author(s):  
Pawel Gaj ◽  
Anna Kluska ◽  
Dorota Nowakowska ◽  
Aneta Bałabas ◽  
Magdalena Piątkowska ◽  
...  
Keyword(s):  
Breast Cancer ◽  
High Frequency ◽  
Founder Mutations

scholarly journals High frequency of BRCA1, but not CHEK2 or NBS1 (NBN), founder mutations in Russian ovarian cancer patients

2009 ◽  
Vol 7 (1) ◽  
Author(s):  
Evgeny N Suspitsin ◽  
Nathalia Yu Sherina ◽  
Daria N Ponomariova ◽  
Anna P Sokolenko ◽  
Aglaya G Iyevleva ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cancer Patients ◽  
High Frequency ◽  
Founder Mutations

Distribution and high frequency of novel alleles at NF1 polymorphic markers in the Italian population

1999 ◽  
Vol 13 (6) ◽  
pp. 415-420 ◽  
Author(s):  
F Natacci ◽  
P Colapietro ◽  
P Riva ◽  
L Corrado ◽  
LN Rossi ◽  
...  
Keyword(s):  
High Frequency ◽  
Italian Population ◽  
Polymorphic Markers ◽  
Novel Alleles

scholarly journals High frequency of biotinidase deficiency in Italian population identified by newborn screening

2020 ◽  
Vol 25 ◽  
pp. 100689
Author(s):  
Silvia Funghini ◽  
Rodolfo Tonin ◽  
Sabrina Malvagia ◽  
Anna Caciotti ◽  
Maria Alice Donati ◽  
...  
Keyword(s):  
Newborn Screening ◽  
High Frequency ◽  
Biotinidase Deficiency ◽  
Italian Population

scholarly journals Monocytes Heterozygous for the Asp299Gly and Thr399Ile Mutations in the Toll-like Receptor 4 Gene Show No Deficit in Lipopolysaccharide Signalling

2003 ◽  
Vol 197 (12) ◽  
pp. 1787-1791 ◽  
Author(s):  
Clett Erridge ◽  
John Stewart ◽  
Ian R. Poxton
Keyword(s):  
High Frequency ◽  
Bacterial Infections ◽  
Physiological Responses ◽  
Italian Population ◽  
Toll Like Receptor ◽  
Toll Like Receptor 4 ◽  
Gram Negative ◽  
Increased Risk ◽  
Tlr4 Gene ◽  
Efficient Recognition

Toll-like receptor 4 (TLR4)-mediated recognition of lipopolysaccharide (LPS) is required for efficient recognition of Gram-negative bacterial infections. Two commonly occurring mutations in the human TLR4 gene (Asp299Gly and Thr399Ile) have recently been shown to be associated with blunted physiological responses to inhaled LPS, and with increased risk of Gram-negative bacteraemia in sepsis patients and reduced risk of atherosclerosis in an Italian population. Here we show that monocytes from individuals heterozygous for both mutations in the TLR4 gene exhibit no deficit in recognition of LPS of Escherichia coli, Neisseria meningitidis, Bacteroides fragilis, Yersinia pestis, Chlamydia trachomatis, Porphyromonas gingivalis, or Pseudomonas aeruginosa. We propose that the relatively high frequency of these mutations in the Caucasian population may reflect modified responses of carriers to alternative TLR4 agonists.

The Microstructure of Steatite (Protoenstatite)

1985 ◽  
Vol 43 ◽  
pp. 236-237
Author(s):  
W. E. Lee ◽  
A. H. Heuer
Keyword(s):  
High Frequency ◽  
Glass Ceramics ◽  
Magnesium Silicate ◽  
Beam Current ◽  
Glassy Matrix ◽  
Angle Of Incidence ◽  
X Ray ◽  
Mechanical And Electrical Properties ◽  
Argon Ions ◽  
High Temperature Polymorph

IntroductionTraditional steatite ceramics, made by firing (vitrifying) hydrous magnesium silicate, have long been used as insulators for high frequency applications due to their excellent mechanical and electrical properties. Early x-ray and optical analysis of steatites showed that they were composed largely of protoenstatite (MgSiO3) in a glassy matrix. Recent studies of enstatite-containing glass ceramics have revived interest in the polymorphism of enstatite. Three polymorphs exist, two with orthorhombic and one with monoclinic symmetry (ortho, proto and clino enstatite, respectively). Steatite ceramics are of particular interest a they contain the normally unstable high-temperature polymorph, protoenstatite.Experimental3mm diameter discs cut from steatite rods (∼10” long and 0.5” dia.) were ground, polished, dimpled, and ion-thinned to electron transparency using 6KV Argon ions at a beam current of 1 x 10-3 A and a 12° angle of incidence. The discs were coated with carbon prior to TEM examination to minimize charging effects.

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