Hb Vila Real [beta36(C2)Pro®His] in Italy: characterization of the amino acid substitution and the DNA mutation

A rare high oxygen affinity hemoglobin variant was identified in a 22-year-old male patient from Napoli (Naples, Italy) affected by erythrocytosis. A detailed structural characterization of the variant hemoglobin was carried out, both at the protein and DNA levels essentially by mass spectrometric procedures and allele-specific amplification techniques. The amino acid substitution was determined by liquid chromatography tandem mass spectrometric analysis of the tryptic digest as β36(C2)Pro → His; the corresponding DNA mutation was identified as C → A at the second position of codon 36 of the β chain (CCT → CAT). These variations identified the presence of Hb Vila Real, described only once before in a Portuguese woman. Haplotype analysis of DNA polymorphisms showed that the β-globin gene of Hb Vila Real was associated with haplotype I

Research training needs in Peruvian national TB/HIV programs

<p>Abstract</p> <p>Background</p> <p>There are few published reports of <it>research training </it>needs assessments and research training programs. In an effort to expand this nascent field of study and to bridge the gap between research and practice, we sought to systematically assess the research training needs of health care professionals working at Peruvian governmental institutions leading HIV and tuberculosis (TB) control and among senior stakeholders in the field.</p> <p>Methods</p> <p>Six institutional workshops were conducted with the participation of 161 mid-level health professionals from agencies involved in national HIV and TB control. At each workshop informants completed a structured questionnaire and participated in small and large group discussions. Additional data and institutional commitment was obtained through in-depth interviews from 32 senior managers and researchers from the Ministry of Health, academia and NGOs.</p> <p>Results</p> <p>Participants exhibited an overwhelming receptivity for additional research training, observing a gap between current levels of research training and their perceived importance. Specialized skills in obtaining funding, developing research protocols, particularly in operational, behavioral and prevention research were considered in greatest need. Beyond research training, participants identified broader social, economic and political factors as influential in infectious disease control.</p> <p>Conclusions</p> <p>The needs assessment suggests that future training should focus on operational research techniques, rather than on clinical skill building or program implementation only. Strengthening health systems not only requires additional research training, but also adequate financial resources to implement research findings.</p

A filled duration illusion in music: Effects of metrical subdivision on the perception and production of beat tempo.

This study replicates and extends previous findings suggesting that metrical subdivision slows the perceived beat tempo (Repp, 2008). Here, musically trained participants produced the subdivisions themselves and were found to speed up, thus compensating for the perceived slowing. This was shown in a synchronization-continuation paradigm (Experiment 1) and in a reproduction task (Experiment 2a). Participants also judged the tempo of a subdivided sequence as being slower than that of a preceding simple beat sequence (Experiment 2b). Experiment 2 also included nonmusician participants, with similar results. Tempo measurements of famous pianists’ recordings of two variation movements from Beethoven sonatas revealed a strong tendency to play the first variation (subdivided beats) faster than the theme (mostly simple beats). A similar tendency was found in musicians’ laboratory performances of a simple theme and variations, despite instruc-tions to keep the tempo constant (Experiment 3a). When playing melodic sequences in which only one of three beats per measure was subdivided, musicians tended to play these beats faster and to perceive them as longer than adjacent beats, and they played the whole sequence faster than a sequence without any subdivisions (Experiments 3b and 3c). The results amply demonstrate a filled duration illusion in rhythm perception and music performance: Intervals containing events seem longer than empty intervals and thus must be shortened to be perceived as equal in duration

Hepatocellular carcinoma and non-alcoholic fatty liver disease: a dangerous liaison

e1299-Hepatocellular carcinoma and non-alcoholic fatty liver disease-a dangerous liaisonLiver cancer is one of the most frequent malignancies in the world, and its incidence rates are on the rise. Due to the global epidemic of metabolic syndrome, the incidence of hepatocellular carcinoma (HCC) secondary to non-alcoholic fatty liver disease (NAFLD) is increasing, contrary to viral forms. Characteristically NAFLD-related HCCs tend to occur at the earlier stages of liver disease, while often the diagnosis of neoplasia occurs later. They also affect an averagely older population, generally with a significantly higher number of co-morbidities. For these reasons, curative treatments are seldom applicable. Therefore, this work aims to illustrate the current state of knowledge on the NAFLD-related HCC and to underline the known pathogenetic mechanisms

Identification of Hb Villejuif [beta123(H1)Thr-->Ile] in Southern Italy.

Hb Villejuif [β123(H1)Thr → Ile] is a silent and asymptomatic variant described in 1989 in an 87-year-old woman of French origin suffering from coincidental polycythemia vera. This paper reports the second observation of Hb Villejuif in three related subjects from Montesarchio, Southern Italy. All routine techniques for hemoglobin analysis yielded normal results with the exception of a slight increase in the Hb A2 value. The occurrence of a variant β-globin was rapidly assessed by liquid chromatography mass spectrometric analysis and the abnormal chain purified by high performance liquid chromatography. The amino acid replacement Thr → Ile at β123 was determined by tandem electrospray mass spectrometric analysis of the tryptic digest of the variant β chain. The corresponding DNA mutation was established as C → T at the second position of codon 123 (ACC → ATC) by polymerase chain reaction amplification techniques