1,721,004 research outputs found
Health-related quality of life and psychological well-being in elderly patients with haemophilia
No full textMany persons with severe haemophilia reach seniority thanks to effective treatment. There is no information on health-related quality of life (HRQoL) of these patients, who had lived for many years when regular replacement therapy was unavailable. Italian patients with severe haemophilia aged ≥65 years born in the 1940s or earlier were compared with men without bleeding disorders matched for age and geography. HRQoL was assessed via generic and disease-specific questionnaires. Potential associations with concomitant illnesses, orthopaedic status, physical functioning, cognitive status and depression were evaluated. In addition, the newly adapted HRQoL questionnaire specific for elderly persons with haemophilia (Haem-A-QoLEldlery) was psychometrically tested and validated. Thirty-nine patients, aged 65–78 years, were investigated, 33 with haemophilia A and six with haemophilia B, and compared to 43 controls, aged 65–79 years. Chronic blood borne viral infections, hypertension and arthropathy were more frequent in patients, whereas hypercholesterolemia and cardiovascular diseases were more frequent in controls. Psychometric characteristics of Haem-A-QoLElderly showed good to excellent values for reliability and validity. HRQoL was worse in patients at EQ-VAS, WHOQOL-BREF and WHOQOL-Old. The highest impairments were found in patients by means of the haemophilia-specific Haem-A-QoLElderly in such dimensions as ‘physical activity & leisure’, ‘physical health’ and ‘view’. A poor orthopaedic status was negatively associated with HRQoL. Compared to age-matched controls elderly patients with haemophilia had an impaired HRQoL in association with their health status. The newly developed Haem-A-QoLElderly proved to be a reliable and valid instrument for HRQoL assessment in elderly haemophilia patient
Molecular characterization of an Italian patient with plasminogen deficiency and ligneous conjunctivitis
Full text linkPlasminogen deficiency is a rare disease characterized by ligneous conjunctivitis and infections. We observed a 3-year-old Italian boy presenting ligneous conjunctivitis and
low plasma levels of plasminogen. Twenty-three different mutations on the PLG gene have been reported to date, but mutation analysis had been troublesome for the presence of highly homologous genes. The aim of the study was to identify the underlying mutation avoiding coamplification of unwanted genetic materials using a long polymerase chain reaction strategy, instead of the previously reported subcloning methods. By this simple strategy the complete
sequence analysis of PLG gene was performed, and a previously reported missense homozygous mutation (K19E) was identified
CYP2C9 genotypes and dose requirements during the induction phase of oral anticoagulant therapy
No full textObjective: Variant alleles of the CYP2C9 gene encoding the cytochrome P450 (CYP) enzyme (2C9*2 [Arg144Cys] and 2C9*3 [Ile359Leu]) are known to increase the anticoagulant effect of warfarin and decrease the mean daily dose required to maintain the international normalized ratio (INR) of the prothrombin time within the target therapeutic range. However, little information is available on the effect of CYP2C9 polymorphisms; on dose requirements during the most critical step of anticoagulant therapy, the induction phase.
Methods. This retrospective study evaluated the dosages given to 125 patients who started therapy with warfarin in a clinical center where physicians used the same approach for dosing and frequency of monitoring. CYP2C9 allelic variants were evaluated by polymerase chain reaction followed by restriction enzyme analysis.
Results. From the time of the first INR estimate (day 4) until the end of the induction phase (arbitrarily established at day 24), patients with 2C9*2 or 2C9*3 variant alleles required lower mean daily doses than patients carrying only wild-type alleles 2C9*1 (-17% and -40%, P < .0001). They also more frequently had INR values above the upper limit of the target range (3.0) (65% for 2C9*2/- and 66% for 2C9*3/- versus 33% for 2C9*1/*1; P = .006 and .012, respectively).
Conclusions: The requirement of smaller doses of warfarin in relation to CYP2C9 polymorphisms is already manifest on the fourth day of treatment, at the time of the first INR estimate. CYP2C9 genotyping is as yet not warranted, but frequent INR monitoring with appropriate dose adjustments is recommended during the first 3 weeks of treatment to avoid overanticoagulation and the inherent risk of bleeding in carriers of variant alleles
Molecular characterization in an Italian patient with plasminogen deficiency and ligneous conjunctivitis
No full textPlasminogen plays an important role in fibrinolysis and wound healing. Plasminogen deficiency is a rare disease associated with ligneous conjunctivitis. Since today 23
different mutations on PLG gene have been reported. We report a case of 3 year old Italian boy presenting ligneous conjunctivitis and low plasma levels of plasminogen (26%). Clinical history is unremarkable, and both parents are clinically healthy.
Previously researches reported an extraordinary sequence homology between PLG genes, apo(A) genes and PRGs genes responsible of co-amplification problems of DNA fragments during PCR with a possible solutions based on amplification of PLG exons followed by subcloning and sequencing. We tried to carry out a faster strategy using Long PCR to analyse the gene portion between 5’UTR and intron 5. The PCR product subsequently were extracted from the gel and used to perform a series of
nested PCR on amplification of every single exons for further sequencing analysis. Exons 11, 12, 16 and 17 were amplified using the forward primer of the upstream exon and the reverse primer of the downstream exon; the product was gel extracted and sequenced too. All remaining exons without any co-amplification problem, were
amplified and sequenced. This strategy revealed a missense homozygous mutation
in exon 2, an A to G substitution leading to an amino acid exchange (Lys to Glu) at codon 19 (K19E). The same mutation in heterozygous state was present in both parents. This mutation has been previously reported in German, Italian and Scottish patients. Since the K19E mutation was also reported in homozygous state in a healthy Scottish blood donor with low levels of PLG and no clinical manifestations, its clinical significance and allele distribution in Europe populations could be the matter of further investigations
Gynaecological and obstetrical problems in women with different bleeding disorders
No full textThe aim of this case-control study was to analyse the prevalence of gynaecological, obstetrical and other more general bleeding symptoms in 114 women affected by various inherited bleeding disorders, who were compared with 114 apparently healthy women. Retrospective information were collected by means of two specific questionnaires, one on gynaecological and obstetrical bleeding symptoms, with special focus on the presence of menorrhagia as defined by a pictorial blood loss assessment chart (PBAC); and the other on general bleeding symptoms, whose severity was graded by means of the bleeding score (BS). Compared to normal women, the whole group of women with inherited bleeding disorders had a higher prevalence of excessive bleeding at menarche (25% vs. 5%, P < 0.0001) and menorrhagia (59% vs. 46%, P = 0.06). Affected women also had a higher frequency than controls of general bleeding symptoms that scored as severe by a BS ≥ 12 (49% vs. 0%, P < 0.0001). In affected women, the BS increased according to the severity of the haemostasis defect. In conclusions, the BS and the PBAC are simple tools to evaluate the severity of general bleeding symptoms and menorrhagia in women with inherited bleeding disorders. These instruments may help to identify those women for whom a therapeutic intervention is warranted
Comparison of attitudes towards prenatal diagnosis and termination of pregnancy for haemophilia in Iran and Italy
No full textPrenatal diagnosis (PND) is an important issue in the comprehensive care of haemophiliacs. As a consequence of technological progress made in the field of PND, the early detection of an affected fetus provides the expectant couple with a chance to terminate pregnancy. This study was undertaken to assess the attitudes of two different haemophilic populations in Iran and Italy towards PND and termination of pregnancy. This study series included 59 Iranians (38 haemophilia A patients and 21 mothers) and 50 Italians (27 haemophilia A patients, 16 mothers and seven fathers). All the 109 participants received a questionnaire including demographic characteristics and evaluating the psychological effects stemming from PND and termination of pregnancy. Approximately 84.7% of the Iranians and 35.4% of the Italians were not familiar with the possibilities afforded by PND for haemophilia (P < 0.001). Termination of pregnancy appeared to be accepted by 58.2% of the Iranian and 16.7% of the Italian participants (P < 0.001). The greater rate of acceptability of abortion in Iranians may be due to differences in the quality of patient care in the two countrie
Association between thrombin generation and bleeding severity in 41 patients with coagulation factor VII deficiency
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Prospective study on acute thrombotic microangiopathy (TMA) after bone marrow transplantation (BMT) : role of ADAMTS13, VWF:Ag and high molecular weight von Willebrand factor (HMW:VWF)
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