The withholding and withdrawing of treatment was frequent in critically ill patients and was initiated primarily by physicians.

BackgroundAcute promyelocytic leukemia is a subtype of acute myeloid leukemia characterized by the t(15;17). The incidence and prognostic significance of additional chromosomal abnormalities in acute promyelocytic leukemia is still a controversial matter. Design and MethodsBased on cytogenetic data available for 495 patients with acute promyelocytic leukemia enrolled in two consecutive PETHEMA trials (LPA96 and LPA99), we analyzed the incidence, characteristics, and outcome of patients with acute promyelocytic leukemia with and without additional chromosomal abnormalities who had been treated with all-trans retinoic acid plus anthracycline monochemotherapy for induction and consolidation. ResultsAdditional chromosomal abnormalities were observed in 140 patients (28%). Trisomy 8 was the most frequent abnormality (36%), followed by abn(7q) (5%). Patients with additional chromosomal abnormalities more frequently had coagulopathy (P=0.03), lower platelet counts (P=0.02), and higher relapse-risk scores (P=0.02) than their counterparts without additional abnormalities. No significant association with FLT3/ITD or other clinicopathological characteristics was demonstrated. Patients with and without additional chromosomal abnormalities had similar complete remission rates (90% and 91%, respectively). Univariate analysis showed that additional chromosomal abnormalities were associated with a lower relapse-free survival in the LPA99 trial (P=0.04), but not in the LPA96 trial. However, neither additional chromosomal abnormalities overall nor any specific abnormality was identified as an independent risk factor for relapse in multivariate analysis. ConclusionsThe lack of independent prognostic value of additional chromosomal abnormalities in acute promyelocytic leukemia does not support the use of alternative therapeutic strategies when such abnormalities are found. Haematologica. 2010; 95:424-431. doi:10.3324/haematol.2009 This is an open-access paper. Additional chromosome abnormalities in patients with acute promyelocytic leukemia treated with all-trans retinoic acid and chemotherapy

The recent identification of the hepatitis C virus and development of assays to detect antibodies to hepatitis C virus has allowed assessment of the prevalence of hepatitis C virus infection in patients with a variety of liver and other diseases. The aim of this study was to investigate the prevalence of hepatitis C virus antibodies and severity of liver injury in patients with porphyria cutanea tarda. Sixty-two patients were studied. Serum samples were analyzed for liver function parameters and markers of hepatitis B virus infection. Frozen serum samples from 34 patients with porphyria cutanea tarda, obtained when patients were seen at the hospital for the first time, were analyzed for hepatitis C virus antibodies with enzyme-linked immunosorbent assays (first- and second-generation) and a recombinant immunoblot assay. As controls, serum samples from 19,788 blood donors, 40 patients with alcoholic liver disease and 138 hospitalized patients without liver disease were also tested for hepatitis C virus antibodies. Liver biopsy was performed in 42 porphyria cutanea tarda patients. Specimens were evaluated for steatosis, siderosis, fibrosis, severity of inflammation and the presence of cirrhosis. In addition, the degree of necroinflammatory change and fibrosis were quantitated with the histologic activity index described by Knodell et al. The prevalence of hepatitis C virus antibodies in patients with porphyria cutanea tarda (62%) was higher than that in blood donors (0.79%), patients with alcoholic liver disease (17.5%) or hospitalized patients without liver disease (5.8%).(ABSTRACT TRUNCATED AT 250 WORDS)

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PurposeTo determine the frequency of limitations on life support techniques (LLSTs) on admission to intensive care units (ICU), factors associated, and 30-day survival in patients with LLST on ICU admission.MethodsThis prospective observational study included all patients admitted to 39 ICUs in a 45-day period in 2011. We recorded hospitals’ characteristics (availability of intermediate care units, usual availability of ICU beds, and financial model) and patients’ characteristics (demographics, reason for admission, functional status, risk of death, and LLST on ICU admission (withholding/withdrawing; specific techniques affected)). The primary outcome was 30-day survival for patients with LLST on ICU admission. Statistical analysis included multilevel logistic regression models.ResultsWe recruited 3042 patients (age 62.5 ± 16.1 years). Most ICUs (94.8%) admitted patients with LLST, but only 238 (7.8% [95% CI 7.0–8.8]) patients had LLST on ICU admission; this group had higher ICU mortality (44.5 vs. 9.4% in patients without LLST; p < 0.001). Multilevel logistic regression showed a contextual effect of the hospital in LLST on ICU admission (median OR = 2.30 [95% CI 1.59–2.96]) and identified the following patient-related variables as independent factors associated with LLST on ICU admission: age, reason for admission, risk of death, and functional status. In patients with LLST on ICU admission, 30-day survival was 38% (95% CI 31.7–44.5). Factors associated with survival were age, reason for admission, risk of death, and number of reasons for LLST on ICU admission.ConclusionsThe frequency of ICU admission with LLST is low but probably increasing; nearly one third of these patients survive for ≥ 30 days.Electronic supplementary materialThe online version of this article (10.1186/s40560-018-0283-y) contains supplementary material, which is available to authorized users.

Partial deletion of the long arm of one of the chromosomes 13 is an exceedingly rare condition. We report such a case in a 32-week fetus presenting with polyhydramnios, growth restriction and multiple structural defects including alobar holoprosencephaly, facial abnormalities, clubfoot, clinodactyly and thumb agenesis. Fetal blood sampling revealed a 46,XY, del(13)(q22 --> qter) abnormal male karyotype. Postmortem examination confirmed the prenatal findings and showed other manifestations of the syndrome. To our knowledge, this case represents the first in which the prenatal ultrasound detection of holoprosencephaly in association with distal limb abnormalities led to the prenatal diagnosis of the 13q- syndrome.

A non-consanguineous couple requested prenatal diagnosis because the woman's brother had Down's syndrome. Paternal and maternal ages were 32 and 30, respectively. They already had a normal daughter.Amniocentesis was performed during the 16th week of gestation; only mild oligohydramnios was noted.During the 20th week, the cytogenetic results were received (46,XX) but ultrasound showed that both biparietal and abdominal diameters were on the 5th centile, while the femoral length was on the 50th centile. Three weeks later another ultrasound scan showed that both the abdominal and biparietal diameters were below the 3rd centile; the femoral length was normal. This intrauterine growth