Data for evaluation of the onshore Cretaceous Zululand Basin in South Africa for geological CO2 storage.

The world has set the goal of reducing CO2 emissions from burning fossil fuels by using carbon capture and storage (CCS) as one of the major solutions. A sudden and complete switch from fossil fuels to renewable resources cannot be achieved immediately. Therefore, CCS remains an essential techniques to reduce CO2. In this work, the 180 - 65 Ma old onshore part of the Zululand Basin in KwaZulu-Natal in South Africa was investigated for geological CO2 sequestration. A total of 160 core samples of sandstone, conglomerate, tuff, rhyolite, breccia, and siltstone were taken from NZA, ZA, ZB, and ZC drill cores. The wells were drilled in the 1960s by the South African Petroleum and Gas Corporation Company for hydrocarbon exploration. In order to examine the basin suitability for CO2 storage, porosity and permeability, mineralogy, geochemistry, geomechanical properties, and H2O-CO2-rock interactions were investigated using geological core logging, spectral scanning, petrography, X-ray diffraction (XRD), X-ray fluorescence (XRF), inductively coupled plasma mass spectrometry, uniaxial compressive stress, and scanning electron microscopy. The basin comprises clastic sedimentary rocks, pyroclastic deposits and carbonates from the Makatini, Mzinene and St. Lucia formations. Aptian and Cenomanian sandstones are identified as CO2 reservoirs, and the siltstone above is considered capstone. The sandstone comprises on average 34.45 wt% quartz, 32.91 wt% clays, 29.53 wt% feldspars, 4.44 wt% carbonates, 3.10 wt% Fe-oxides, 2.40 wt% micas, and 2.00 wt% organic materials as per XRD data, also contains trace amounts of sulphides and sulphates. Geochemical XRF data for sandstone are 29.72 - 62.51 wt% SiO2, 6.95 - 13.44 wt% Al2O3, 3.06 - 48.81 wt%, 1.90 - 4.51 wt% MgO, 1.04 - 2.19 wt% K2O, 1.00 - 3.67 Na2O wt%. The content of TiO2, Cr2O3 and P2O5 is below 0.01 wt% each. Siltstone has similar mineralogy and geochemistry as sandstone, but high clay content, fine-grained, impervious, with porosity <5%. The sandstone and siltstone are geomechanically soft and recorded 15 MPa on the Enerpac P141 device. CO2-H2O-rock interaction experiments performed at 100 °C and 100 bar using autoclaves showed that sandstone and siltstone react with scCO2.

[Current Practice of Dealing with Comorbid Problematic Substance Use in Non-Specialized Rehabilitation Settings: A Survey in German Somatic and Psychosomatic Rehabilitation Centres]. / Gegenwärtige Praxis des Umgangs mit komorbidem problematischem Suchtmittelkonsum in nicht auf Sucht spezialisierten Rehabilitationseinrichtungen--Ergebnisse einer deutschlandweiten Befragung.

STUDY OBJECTIVE: The current practice of dealing with comorbid problematic substance use in non-specialized somatic and psychosomatic rehabilitation centres is described. METHODS: A nationwide survey of rehabilitation centres across all indications was conducted. RESULTS: Incidents related to substance use within the past 12 months were reported by every centre participating in the survey. Even though these incidents occurred rather infrequently, 85% of the respondents stated that the opportunity should be used to address the topic of problematic substance use with all patients. At the same time the issue is discussed controversially by staff members in 42% of the centres, and 29% of the respondents state that there is a need to change the way this issue is dealt with. CONCLUSION: It seems necessary to strengthen the awareness of the problem as well as the professional confidence in dealing with it. In order to support identification of and dealing with problematic substance use, appropriate practice guidelines for the somatic and psychosomatic rehabilitation settings are needed. The present survey constitutes a basis for developing such practice guidelines.

[Feasibility and benefit of an active screening for rehab need and subsequent written advice to file an application for rehab treatment in AOK-insurants enrolled in the disease management program diabetes type 2 (PARTID-trial)]. / Praktikabilität und Nutzen eines aktiven Screenings auf Rehabedarf mit anschließender schriftlicher Beratung zur Rehaantragstellung bei AOK-Versicherten im Disease-Management-Programm Diabetes Typ 2 (PARTID-Studie).

BACKGROUND AND STUDY AIMS: Type 2 diabetes (DM II) is the world's most widespread metabolic disease. Numerous investigations have demonstrated that intensive, multimodal interventions can reduce the occurrence of DM-associated comobidities and mortality. Medical rehabilitation could offer such an alternative, albeit one with an obvious time limit. There is currently no active program in Germany designed to screen for pa-tients' need for rehab. Here, we investigated -whether screening for rehab need in DMII pa-tients accompanied by written advice to file an application for rehab treatment would generate a relevant number of rehab measures, whether -inpatient rehab results in improved mid-term prognoses, and which patients demonstrate a particular benefit from such a program. METHODS: We screened 5 500 employed individuals aged 18-54 years for their need for rehab via an extensive questionnaire based on the "Lübeck Algorithm". The patients were registered in the DMP (disease management program) Diabetes mellitus Type 2 in the AOK Rheinland/-Hamburg health insurance division, and payed into DRV (German statutory pension insurance -scheme) Rheinland retirement insurance. Pa-tients needing rehab who presented no exclusion criteria (i. e., for a rehab intervention far from their place of residence) were randomized to a control or intervention group at a ratio of 3:1. Patients in the intervention group received a letter from the AOK advising them to fill out an application for rehab. A very short, simple application form was included in the mailing. 12 months after randomization we conducted a query to determine the effects of rehab. Our primary endpoint was a cardiovascular risk score specifically devised for diabetics. Multi-level models were applied to measure changes in cardiovascular risk. RESULTS: 850 patients (rate of return=16%) returned completed screening forms to us. After having excluded those with faulty diagnoses and/or those who had refused to participate, 829 patients remained. 94% of them presented a need for rehab according to specific criteria (39% with a simple and 55% with complex problem profiles). 266 patients stated in the questionnaire that a rehab program was impossible for them for personal reasons. Of those patients who remained, we randomized 299 to the intervention cohort and 102 to the control group. Almost 70% of the intervention group completed an application for rehab, and our follow-up revealed that most of them participated in a rehab intervention. Return rate after one year was 82%. Analysis on the intention-to-treat (ITT) principle revealed no significant effect on cardiovascular risk (p=0.68); however, per-protocol analysis demonstrated a significant effect in the intervention cohort (p=0.025). Males, and patients with an uncomplicated problem profile profited from the intervention. DISCUSSION: We discovered that a proactive procedure leads to the identification of a highly relevant group of insured individuals, and that it is suited to generating a large number of medically -justified rehab applications. ITT analysis on the effi-cacy of inpatient rehabilitation for type 2 diabetes mellitus in terms of the cardiovascular 5-year risk, however, failed to display a significant statistical effect in this study population (insurees of generally lower socioeconomic status having no intention to apply for rehab treatment). Rehab treatment for type 2 diabetes does not seem to be universally effective. This of course does not apply to rehab in general, as patients usually participate in rehab of their own volition. More research is needed on this issue.

[Proactive screening for rehabilitation need in type 2 diabetics from an AOK Disease Management Programe: which patients will be identified?]. / Proaktives Screening nach Rehabilitationsbedarf bei Typ-2-Diabetikern im Disease-Management-Programm einer AOK: Welche Patienten können identifiziert werden?

BACKGROUND: Medical rehabilitation seems suitable for implementing multimodal interventions for the treatment of type 2 diabetes. Rehabilitation in Germany on principle requires that insurees file an application. Proactive screening for rehabilitation need has only been explored in pilot projects so far. It seems a promising attempt to assess rehab need by questionnaire especially in patients with type 2 diabetes. We do not know though how patients who have been screened positive for rehab need differ from other patients with type 2 diabetes as to their health and risk profiles. This could provide an indication of the validity of the proactive approach. METHODS: Members of an Allgemeine Ortskrankenkasse (AOK) Disease Management Program (DMP) for type 2 diabetes were screened for rehab need by questionnaire. 13 diabetes-specific problem areas were assessed. Problems were assigned to 10 specific treatments (problem-treatment-pairs). Rehab need was presumed if patients needed 3 or more treatments. Patients were then compared to regular rehab patients as well as patients with type 2 diabetes from primary care medical offices. RESULTS: From 5500 DMP-patients 829 returned the questionnaire (return rate: 15.5%). From these 94% met the criteria for rehab need; of these 55% needed 6 or more treatments (complex problems). Patients who screened positive for rehab suffered from more health problems and had worse risk profiles as compared to patients from medical offices, and disease burden was comparable or worse as compared to regular rehab patients. CONCLUSIONS: This indicates that proactive screening for rehab need in patients with type 2 diabetes leads to reasonable (valid) results. The very low return rate suggests that the sample may be considerably biased, though. Possibly, mainly patients with greater impairment to health responded to the screening.

[DGRW-Update: Rehabilitation in Diabetes Mellitus]. / DGRW-Update: Rehabilitation bei Diabetes mellitus.

In the years to come, prevalence and socio-medical relevance of diabetes mellitus will continue to increase. Therapeutic aims must be defined on an individual basis considering risks and benefits. No longer is it reasonable to insist on normoglycaemia as a general therapeutic aim. There are numerous effective and evidence-based therapeutic modules for diabetes mellitus which are also offered within the scope of rehabilitation. Reliable evidence exists to confirm that therapy should start as early as possible, because it is less effective during later phases of the disease when concomitant cardiovascular illnesses may occur. In most cases, medical rehabilitation of diabetic patients is based on other diagnoses. There is a considerable need for rehabilitation among diabetics who are in ambulant care but do not intend to file a request for rehabilitative measures. Sustainability of rehabilitative effects must be improved by means of follow-up treatment and networking with the ambulant structures of long-term care. Provided that the indication makes it appropriate, bariatric surgery constitutes a new effective therapy.

[Haemophilia treatment centres in Germany]. / Register von Hämophilie-Zentren in Deutschland.

UNLABELLED: An adequate number of qualified haemophilia centres is an essential requirement for effective and cost-efficient haemophilia care. During a reassessment of the delivery of haemophilia care in Germany a broad range of criteria relating to structure and quality of the centres were defined and a questionnaire was developed. RESULTS: Of 137 doctors who received the questionnaire, 113 (82%) replied. Based on data related to diagnostic and treatment services, together with voluntary information from PEI forms (Paul Ehrlich Institut, Germany), 72 haemophilia centres were established. Three levels of haemophilia care were defined by the Medical Advisory Council of the German Haemophilia Society. This is in accordance with criteria defined by European working parties. 17 haemophilia centres were designated CCC (Comprehensive Care Centre), 24 were designated HTC (Haemophilia Treatment Centre) and 31 smallest centres were allocated the status HTR (Haemophilia Treatment Regional). In comparison to the survey in 2007, there was only slight variance in the CCC centres (+ 2 centres/-1 centre). From the previous HTC centres, 7 have withdrawn from this treatment level: 4 maintain treatment on the lower level HTR, and 3 centres had ceased treatment. On the HTR level of treatment, 6 of 29 (21%) had ceased to offer treatment. 9 had been able to increase the number of patients and were designated HTC. 5404 patients with haemophilia and 3047 with the severe form of haemophilia were reported. 67% were treated in CCC, 25% in haemophilia treatment centres and 8% in the 31 smallest centres. 13 of the adult CCC are situated in the department of internal medicine and 4 in the section of transfusion medicine. CONCLUSIONS: The survey and analysis of the haemophilia treatment centres in Germany show that the delivery of haemophilia care through 17 CCC, 24 HCT and 31 HTR appears to be adequately structured. But it is noticeable and alarming, however, that on both HTC and HTR levels of treatment, 32% and 21%, respectively, have left their treatment level. 9 centres (12.5%) have finished working in haemophilia care in the last four years. On the strength of these results, endeavours to maintain haemophilia centres must be intensified. A high level of effective care can be guaranteed only through continued existence of the centres.

Interim data on long-term efficacy, safety and tolerability of a plasma-derived factor VIII concentrate in 109 patients with severe haemophilia A.

The aim of this open-label, multicentre and multinational post-marketing surveillance was to investigate clinical effectiveness, safety and tolerability of a plasma-derived and vWF containing factor VIII product (FVIII/VWF) in patients with severe haemophilia A. Long-term effectiveness, safety and tolerability were investigated in a total of 109 haemophilia A patients treated for prophylaxis or on-demand, as required. Interim data collected until June 2010 are presented. Most patients (99/109; 90.8%) were previously treated patients (PTPs). Mean observation period was 82.6 months. Overall, patients received 105 131 425 IU haemoctin SDH during 68 624 administrations. Each patient was given a mean of 635.4 injections, whereby about half of the administrations were given for treatment of bleeding episodes (46.9%) and the other administrations for prophylactic reasons (53.1%). Patients on prophylaxis had a median of 0.8 bleeding episodes per month. The expected therapeutic effect was reached in 99.3% of treatments. The incidence of clinically relevant inhibitor formation in patients with severe haemophilia (FVIII activity ≤ 1%) was 1.2% for PTPs. One previously untreated patient with severe haemophilia had a clinically relevant transient inhibitor. No treatment related transmissions of hepatitis A, B and C and HIV 1/2 were observed. German patients had a higher extent of exposure and experienced less bleeding episodes than Hungarian patients. In conclusion, haemoctin SDH was effective, safe and well tolerated in long-term prophylaxis and treatment on demand.

[Desmopressin parenteral in patients with VWD1, VWD 2A and thrombocytopathy]. / Desmopressin parenteral bei VWD1, VWD 2A und Thrombozytopathie. Biologische und klinische Ansprechbarkeit.

UNLABELLED: Desmopressin (DDAVP, Minirin® parenteral), which induces the release of von-Willebrand factor from endogenous stores, is indicated in von Willebrand disease type 1 (VWD 1). In the present study effectiveness of DDAVP was tested and side effects were recorded in patients with VWD 1, von Willebrand disease type 2 (VWD 2) or thrombocytopathy (TCP). PATIENTS, METHODS: Subjects were analysed prior to and after Minirin parenteral infusion (0.4 µg/kg body weight (b.w.) over 60 minutes) for partial thromboplastin time (PTT, seconds), ADP/epinephrine triggered platelet-function analyzer (PFA-100) occlusion time (seconds), factor VIII activity (FVIII, %), VWF as ristocetin cofactor activity (VWF:RCo, %) and VWF antigen (VWF:Ag, %). Side effects of DDAVP during operative interventions were recorded per questionnaires by the patients. RESULTS: The mean ± standard deviation dose (n = 165 patients) of Minirin parenteral administered was 0.37 ± 0.02 µg/kg b.w., most often upcoming dental operations (57%) necessitated testing. Coagulation parameters of patients with VWD 1 or TCP normalised in almost all patients, but only in approximately 50% of patients with VWD 2 respectively. Appraisal of effectiveness of Minirin parenteral as good was 96% in case of VWD 1 and 95 % in case of TCP. During minor surgeries (n = 23) in 91% of the patients no complications and in 2 patients (9%) postoperative haemorrhages without need for further interventions occurred, but 83% of the patients reported adverse reactions in the questionnaires, although Minirin parenteral was well tolerated by all patients during DDAVP efficacy tests. CONCLUSION: Desmopressin is well tolerated and affective in patients with VWD 1 and thrombocytopathy.

Inhibitor-immunology-study. Evaluation of inhibitor development in haemophilia B.

UNLABELLED: The development of inhibitors in haemophilia B is one of the most important complications of replacement therapy, affecting mortality and morbidity. Inhibitor development is based on complex immunological factors, and to date, only little is known about its underlying mechanisms. Here, we present first results of the haemophilia B group of our Inhibitor-Immunology study. PATIENTS, METHODS: So far we have analysed 15 patients with haemophilia B. Four of them developed a high titre inhibitor; the remaining 11 had no inhibitor. We evaluated 9 SNPs in 8 genes (CD40, CTLA-4 , IL-1ß, IL-10, TLR2 , TLR4, TLR9, TNF-α). We compared the distribution of these alleles between inhibitor and non-inhibitor haemophilia B patients and between haemophilia B patients and a normal male control population. HLA typing was performed in all patients. Results, discussion: There appears to be a trend towards a skewed distribution of TLR 9, IL-10 and CTLA4 alleles in haemophilia B patients. Due to the limited number these differences are, however, not statistically significant. The t-test of all patients with inhibitor versus without inhibitor was significant for HLA-A*03 and DPB1*0401 and borderline for DRB1*0201.

A retrospective study to describe the incidence of moderate to severe allergic reactions to factor IX in subjects with haemophilia B.

Using a patient chart review process, we conducted a retrospective study to describe the frequency of allergic reactions in individuals with haemophilia B receiving factor IX (FIX) replacement therapy. The number of allergic reactions in individuals receiving a recombinant FIX (rFIX) product (BeneFix(®)) was then compared with the number of reactions in patients receiving plasma-derived FIX (pdFIX) products. Of the 180 subjects in the study, 163 received rFIX, 88 received pdFIX; 71 received both product types. A total of seven (3.89%) subjects had a moderate or severe allergic reaction to a FIX product (95% confidence interval [CI], 1.06-6.71%). Among those receiving rFIX, four subjects (2.45%) had an allergic reaction (95% CI, 0.08-4.83%). Of individuals taking pdFIX products, three (3.41%) developed an allergic reaction (95% CI, 0-7.20%). It was noted that three (1.84%) of those taking rFIX developed an inhibitor to FIX (95% CI, 0-3.90%), while four (4.55%) of those receiving a pdFIX product developed an inhibitor (95% CI, 0.19-8.90%). Inhibitor development was frequently associated with allergic reaction. These results provide evidence that there is no difference in the frequency of allergic reactions or inhibitor development in individuals receiving rFIX compared with those receiving pdFIX concentrates. The current study and a previous study of similar design have now compared the rate of allergic reactions associated with rFIX and pdFIX concentrates has now been compared in a total of 414 subjects; this represents the largest collection of data to date on this rare complication of haemophilia B therapy.

The relative burden of haemophilia A and the impact of target joint development on health-related quality of life: results from the ADVATE Post-Authorization Safety Surveillance (PASS) study.

Studies with haemophilia A (HA) patients have shown burden in health-related quality of life (HRQOL) when compared with general population norms. In the current study, HA patients' SF-36v2 health survey scores were compared with general population norms and to patients with other chronic conditions. The impact of target joints (TJs) on HRQOL was also examined. The sample was a subset of HA patients enrolled in the Post-Authorization Safety Surveillance (PASS) programme: a prospective open-label study in which ADVATE [Antihaemophilic Factor (Recombinant), Plasma/Albumin-Free Method] was prescribed. A total of 205 patients who were ≥ 18 years old and had SF-36v2 baseline scores were selected for this study. To measure the burden of HA on HRQOL, manova analyses compared these SF-36v2 scores to age- and gender-matched general population US and EU norms and to patients from other chronic condition groups. manova and correlational analyses examined the relations among TJ, age and SF-36v2 scores. Comparisons with general population norms confirm that HA negatively impacts physical, but not mental, HRQOL. Comparison with other chronic conditions shows the physical burden of HA is greater than for chronic back pain but similar to diabetes and rheumatoid arthritis, while the mental burden of HA is less than for all three patient groups. The presence of TJs was negatively associated with physical HRQOL, although this association was much larger for older patients (45+ years) than for younger ones. Physical, but not mental, HRQOL is diminished in HA patients. Target joints are associated with lower physical HRQOL, although this effect is moderated by age.

[Haemophilia A therapy of adults. Actual treatment situation in a haemophilia centre]. / Hämophilie-A-Therapie bei Erwachsenen. Situationsbericht aus einem Hämophilie-Behandlungszentrum.

UNLABELLED: In a retrospective study from a single treatment centre (Centre for Haemostaseology Muenster) the current treatment conditions of patients with severe haemophilia A (FVIII:C <1%) at the age of ≥ 16 years are described. Data were extracted from paper based diaries of patients in home treatment (n = 70). RESULTS: A progressive preference towards prophylactic treatment compared to on demand therapy is observed. On average 2.4 injections per week (mean: 1750 IU FVIII per injection) are used in the prophylactic regimen. The consumption of FVIII concentrates is approximately fivefold increased compared to on demand therapy (average 0.5 injections per week). Meanwhile, recombinant FVIII concentrates have become widely accepted in all age groups, they show a proportion of 60% in the clinical practice of the study population.

[Prophylaxis in haemophilia B. Prevention of bleeds and FIX consumption]. / Prophylaxe in der Hämophilie-B-Therapie. Reduktion der Blutungsfrequenz und FIX-Verbrauch.

Based on the documentation from patients with severe haemophilia B (FIX:C <1%) in home treatment the positive effect of continuous prophylaxis compared to on demand treatment was investigated over one year in a retrospective study from a single treatment centre (Centre for Haemostaseology Muenster). The advantage of the reduction in the number of bleeding episodes by 90% was opposed by a threefold higher consumption of FIX concentrates and a fourfold higher exposure of the patients to intravenous injections.

[Inhibitor development against FVIII in previously treated patients with haemophilia A. A retrospective data collection]. / Inhibitorentwicklung bei FVIII-Präparaten in vorbehandelten Patienten mit Hämophilie A. Eine retrospektive Datenerhebung.

UNLABELLED: In a retrospective study 118 haemophilia A patients from two treatment centres (Berlin and Muenster) were evaluated with respect to safety, i. e. inhibitor development, and efficacy of bleeding control of recombinant FVIII products. During approx. 57 thousand injections with more than 87 million I.U. rFVIII no de novo inhibitor was observed in patients previously treated with pFVIII after switch to a recombinant product. A total of 75 thousand injections with more than 111 million I.U. FVIII had been applied during the investigation period of 14 years. Before as well as after switch of the product type bleeding episodes could be controlled with one to two injections per bleed. CONCLUSION: According to our results equal safety and efficacy of plasma derived and recombinant FVIII products can be assumed.

[When is severe haemophilia A diagnosed in children and when do they start to bleed? Re-evalution after 10 years of experience]. / Schwere Hämophilie A: Wann werden Kinder diagnostiziert, wann beginnen sie zu bluten? Aktualisierung nach 10 Jahren.

UNLABELLED: Based on a previous investigation, the aim of this study was to re-evaluate when children with severe haemophilia A (FVIII:C <1%) are diagnosed and when they start to bleed. Data from previously untreated patients (n = 20) were collected. RESULTS: 95% of the patients experienced their first bleeding episode at the age of less than one year. On average, the first non-joint bleed occurred at the age of 0.85 years, whereas the first joint bleed developed approximately a half year later at the age of 1.49 years. Compared to the previous investigation children were diagnosed earlier, i.e. at the age of 3.7 month on average.

Molecular mechanisms underlying hemophilia A phenotype in seven females.

BACKGROUND: Hemophilia A (HA) in females is a rare observation. Here we describe various genetic mechanisms that result in phenotypic expression of HA in seven females. METHODS: The F8 gene was examined in all patients and relatives by direct sequencing. Multiplex ligation-dependent probe amplification (MLPA) was performed for large deletion screening. X chromosome inactivation was studied by PCR analysis of a polymorphic CAG repeat in the first exon of the human androgen receptor (HUMARA) gene. RESULTS: In two females sequencing of the F8 gene revealed homozygous missense mutations (Arg593Cys and Tyr1680Phe) as a consequence of consanguineous marriage. The third case was due to compound heterozygosity comprising the missense mutation Leu412Phe inherited from the carrier mother, together with a de novo large deletion spanning exon 9-22, probably originating from the germ cells of the healthy father. Three further cases shared a common mechanism representing heterozygous mutations in the F8 gene (Arg1781His, Arg327His, small deletion in exon 10) combined with non-random inactivation of the X chromosome. The final case describes a coincidental inheritance of HA and Coffin-Lowry syndrome in the same family. The HA phenotype results from a heterozygous small deletion affecting the F8 gene (c.6872 del CT leading to Thr2272fs) and a complete inactivation of the maternal X chromosome, which segregates with Coffin-Lowry syndrome in the two brothers of the proposita. CONCLUSIONS: In conclusion, molecular genetic analysis represents an essentially valuable tool in elucidating the nature of the molecular mechanisms underlying the HA phenotype in females.

Haemoassist--a hand-held electronic patient diary for haemophilia home care.

On-demand or prophylactic home-treatment is currently the treatment of choice for haemophilia patients. To allow physicians to monitor the amount of factor concentrates administered, the patients document each factor injection in a paper-diary. Nevertheless, because of the fact that most patients visit their physicians only two to four times a year, there could be considerable delay in detecting medication problems. The aim of this pilot study was to assess whether an electronic documentation tool could successfully replace traditional paper-diaries for haemophilia A patients and enable the physician to have a timely overview of the patient's treatment. An electronic, hand-held documentation tool, Haemoassist, was developed. In this study, patients using prophylaxis and on-demand therapies documented their factor consumption both electronically and on paper-diaries. Documentations were compared and descriptively evaluated. Patients also completed a survey to evaluate the feasibility and gather their opinions on the Haemoassist system. Ten patients from two haemophilia treatment centres in Germany submitted a total of 548 records via hand-held device during the observation period, from March 2006 to February 2007. Comparison of electronic and paper-based records showed differing responses among patients with some patients entering more electronic and some others more paper-based documentations. In the questionnaires on feasibility and usefulness of Haemoassist, three patients preferred the electronic tool, two patients wanted to continue using paper-based diaries, and one had no preference. The study shows that an electronic documentation system is feasible for haemophilia patients and provides the physician with the opportunity to more closely monitor patients. However, not all patients seem to be qualified for using an electronic tool, and the tool has to run reliably without major errors for ensuring reliability and acceptability. In the future, Haemoassist might support quality assurance in haemophilia treatment and improve guidance in the home-care setting.

Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene.

The congenital FVII deficiency (FVIID) is a rare haemorrhagic disorder with an autosomal recessive pattern of inheritance. Data on phenotype and the genotype from 717 subjects in Central Europe (six countries), Latin America (Costa Rica, Venezuela) and United States, enrolled in the Greifswald Registry of FVII Deficiency were analysed. We detected 131 different mutations in 73 homozygous, 145 compound heterozygous and 499 heterozygous subjects. Regional differences were observed in the mutation pattern and the clinical profile of the evaluated patients. Seventy-one per cent of homozygous and 50% of compound heterozygous subjects were symptomatic. The clinical manifestations of the homozygous subjects were characterized by intracranial haemorrhage (2%), gastrointestinal bleeding (17%), haemarthrosis (13%), epistaxis (58%), gum bleeding (38%), easy bruising (37%), haematoma (15%), haematuria (10%) and menorrhagia (19 of 26 females, 73%). The clinical variability and genotype-phenotype correlation was evaluated in the homozygous subjects. The pattern of bleeding symptoms among compound heterozygous patients was severe and similar to that of the homozygous patients. The large-scale analysis of 499 heterozygous subjects shows that 93 (19%) presented with spontaneous bleeding symptoms such as haemarthrosis (4%), epistaxis (54%), gum bleeding (14%), easy bruising (38%), haematoma (23%), haematuria (5%) and menorrhagia (19 of 45 females; 42%). The severe haemorrhages - intracranial and gastrointestinal - were not reported in heterozygous subjects. The clinical variability and the regional differences in the mutation pattern are discussed regarding care and treatment.