[Massive aortic regurgitation with giant aorta aneurysm in Marfan syndrome].

Marfan syndrome is an autosomal dominant hereditary disease that compromises various systems that usually require a multidisciplinary approach. The cause of Marfan syndrome is unknown, but recent genetic studies have related this disease to an extracellular microfibrillar defect located on chromosome 15q15-q21.3.

Results of allogeneic stem cell transplantation in the Spanish MDS registry: prognostic factors for low risk patients.

Although new agents have been approved for the treatment of MDS, the only curative approach is allogeneic hematopoietic stem cell transplantation (HSCT) and thus, in particular circumstances this procedure has been proposed as a treatment option for low risk patients. We have retrospectively analyzed the results of HSCT in 291 patients from the Spanish MDS registry with special attention to low risk MDS (LR-MDS) in order to define the variables that could impact their clinical evolution after transplantation. At 2 years OS was 51% and EFS was 50% (95% CI 0.

Risk of placenta-mediated pregnancy complications or pregnancy-related VTE in VTE-asymptomatic families of probands with VTE and heterozygosity for factor V Leiden or G20210 prothrombin mutation.

Background: Few studies have evaluated the risk of pregnancy-related adverse events in asymptomatic relatives of probands for VTE and factor V Leiden or the G20210A variant. The antepartum management of this population ranges from antepartum anticoagulation therapy to clinical surveillance.

Objective: To evaluate the risk of placenta-mediated pregnancy complications and pregnancy-related VTE in VTE-asymptomatic families of probands with VTE and who are heterozygous carriers of either factor V Leiden or PT-G20210A mutation.

[Challenges and limits of hospital support groups].

Every day nurses come across others who are suffering, and are consequently confronted with their own emotions, which can have implications on the provision of care. A support group can help them take a step back and think about their professional practice. Thanks to the exchanges made in the presence of a psychologist, everyone can reflect, within a group, on his or her relationship with care.

[A psychologist's insight to understand the suffering of caregivers at work].

During their interviews with the staff psychologist, caregivers evoke numerous reasons for their unease. Difficulties relating to their work are the first to be mentioned: a search for a sense of purpose, a lack of communication with their colleagues and time with their patients. However, sometimes, this suffering felt by caregivers may be linked to deep-rooted personal issues which can reappear at work, disconcerting them in their professional practice.

The degree of neutropenia has a prognostic impact in low risk myelodysplastic syndrome.

The severity of neutropenia in myelodysplastic syndrome (MDS) has not been completely studied. We analyzed the prognostic significance of severe neutropenia (neutrophils count <0.5×10(9)/L) at diagnosis in 1109 patients with de novo MDS and low/intermediate-1 IPSS included in the Spanish MDS Registry.

Better prognosis for patients with del(7q) than for patients with monosomy 7 in myelodysplastic syndrome.

Background: Abnormalities involving chromosome 7 are frequent in myelodysplastic syndrome (MDS) and suggest a poor prognosis.

Methods: The authors examined the hypothesis that the clinical features and survival associated with isolated deletion (del) of part of the long arm of chromosome 7 (7q) in MDS are different from those associated with isolated monosomy 7 (complete loss of chromosome 7). In total, 133 patients with a diagnosis of de novo MDS (according to the World Health Organization [WHO] classification) and chromosome 7 abnormalities in the Spanish MDS Registry were evaluated retrospectively.

Prognostic impact of severe thrombocytopenia in low-risk myelodysplastic syndrome.

Background: Thrombocytopenia is very common in myelodysplastic syndrome (MDS); however, its clinical impact in low-risk patients remains controversial.

Methods: The authors analyzed the incidence and prognostic significance of thrombocytopenia at diagnosis in 2565 de novo MDS patients included in the Spanish MDS Registry.

Results: Thrombocytopenia (platelet count <100 × 10(9) /L) was identified in 842 patients (32.

The Nonreflux Determinant of Esophagitis.

Fifty randomly selected patients were examined clinically, esophagoscopically and biopsy specimens were taken transesophagoscopically from the lower third of the esophagus. In addition, upper gastrointestinal series and gastro-secretory studies were done in all subjects. In 15 cases, in vitro DNA synthesis using tritiated thymidine was measured.