Pallister-Killian syndrome in a preterm newborn who died soon after precipitous delivery: cytogenetic analysis.

The authors report a preterm neonate with dysmorphic traits and cleft palate who was born preterm because of precipitous delivery and died soon after birth notwithstanding neonatal intensive care unit (NICU) support. The cytogenetic analysis on fibroblasts from post-mortem skin biopsy demonstrated a Pallister-Killian syndrome (PKS). PKS is a cytogenetically syndrome characterized by a tissue limited mosaic distribution of one isochromosome 12p (tetrasomy 12p). Clinical manifestations of PKS are variable, and some symptoms may overlap with other malformative syndromes, thus the correct diagnosis mainly depends on the demonstration of the specific cytogenetic abnormality.

Presence of C. albidus, C. laurentii and C. uniguttulatus in crop and droppings of pigeon lofts (Columba livia).

Columba livia is an important reservoir and carrier of Cryptococcus neoformans, Cryptococcus uniguttulatus, Cryptococcus laurentii and Cryptococcus albidus. Upper digestive tract of this species is also known as a habitat for Cryptococcus neoformans. Given the increasing clinical interest of this microorganism, 331 swabs from crop and 174 dropping samples from pigeon lofts in Grand Canary Island have been studied. The obtained results show an extensive presence samples 81 positive (24.47%) of Cryptococcus spp. in analysed crops: 32 (9.66%) for C. neoformans, 24 (7.2%) for C. uniguttulatus, 23 (6.9%) for C. albidus and 2 (0.6%) for C. laurentii. In the same way, Cryptococcus spp was also isolated in 82 (47.13%), dropping samples: C. neoformans in 59 (33.9%), C. uniguttulatus, in 9 (5.17%), C. laurentii in 8 (4.59%) and C. albidus in 6 (3.44%) of the investigated samples, respectively. The cryptococcosis produced by species of cryptococci other than C. neoformans has become more important during the last decade, supporting the study on the role of pigeon in the epidemiology of this disease.

Isolation of Cryptococcus species including C. neoformans from cloaca of pigeons.

Upper digestive tract of the pigeon (Columba livia) is well known as a reservoir for different species of Cryptococcus, but lower portions are not so frequently studied. In the present study, we tested on selective media a total of 331 pigeon cloacal swabs; Cryptococcus spp. were recovered from 26 (7.85%). Cryptococcus uniguttulatus was isolated from 11 samples (3.32%), C. laurentii from six (1.81%), C. neoformans var. neoformans from six (1.81%) and C. albidus from three of them (0.91%). The results show the importance of pigeon in the cryptococcosis epidemiology as reservoir and carrier for C. neoformans var. neoformans, but also for other Cryptococcus species of increasing clinical interest.

Reduced systemic heparin dose with phosphorylcholine coated closed circuit in coronary operations.

In this prospective cohort study we addressed the clinical impact of a reduced anticoagulation protocol on the hospital outcome of patients undergoing coronary revascularization with cardiopulmonary bypass. 364 consecutive low to moderate risk patients scheduled for elective isolated coronary operations were admitted to the study. 184 patients (Control Group) received conventional open circuits and full systemic anticoagulation (target activated clotting time 480 seconds); 180 patients (Intraoperative ECMO group) received closed, phosphorylcholine coated circuits and a reduced systemic heparin dose (target activated clotting time 320 seconds). Patients of the Intraoperative ECMO group had less requirement for allogeneic blood products (odds ratio 0.55, 95% confidence interval 0.34-0.92, p = 0.02), a significant containment of blood loss (374 +/- 278 mL vs. 463 +/- 321 mL in Control group, p = 0.005) a lower postoperative peak serum creatinine levels (1.19 +/- 0.48 mg/dL vs. 1.41 +/- 0.94 mg/dL in Control group, p = 0.048), and a significant lower rate of severe morbidity (odds ratio 0.27, 95% confidence interval 0.09-0.81, p = 0.02). A reduction of systemic anticoagulation is feasible with a non-heparin-bonded, closed biocompatible circuit, and results in a significant improvement of the outcome of low to moderate risk coronary patients.

Identification of a mutant allele of the androgen receptor gene in a family with androgen insensitivity syndrome: detection of carriers and prenatal diagnosis.

We report the results of a molecular study of a large family segregating the complete form of the Androgen Insensitivity Syndrome (CAIS) in several family members from three generations. We identified the mutant allele by polymerase chain reaction (PCR) amplification of the short tandem repeat (CAG)n, highly polymorphic in the population, present in the first exon of the androgen receptor (AR) gene. In this family four different alleles were detected and one of these showed a perfect segregation with the disease. This study enabled us to identify the heterozygous females in this family. We think that this simple, indirect test, is also suitable for prenatal diagnosis of Morris' syndrome when the mother is heterozygous for the size of the short tandem repeat and one affected subject in the family may be studied.

Risk factors for fatal myocardial infarction after coronary bypass graft surgery.

BACKGROUND AND OBJECTIVE: The incidence and clinical impact of perioperative myocardial infarction during coronary artery bypass graft surgery vary greatly depending upon the diagnostic criteria applied. Fatal perioperative myocardial infarction has a less arguable diagnosis and clinical impact. The aim of this paper is to find out the risk factors for fatal myocardial infarction after coronary surgery. METHODS: Data from 1561 consecutive patients, who underwent coronary revascularization during a 10-month period, have been retrospectively analysed. After an univariate analysis for pre- and intraoperative risk factors, a multivariate model (logistic regression analysis) was settled. RESULTS: Preoperative use of subcutaneous/intravenous heparin, a heparin sensitivity index < 1.3 and need for a thromboendarterectomy of the left anterior descending coronary artery are independent risk factors for fatal myocardial infarction. The relative risk for fatal myocardial infarction was about 2 in the case of preoperative heparin use or heparin sensitivity index < 1.3 and 5.5 in the case of thromboendarterectomy of the left anterior descending coronary artery. CONCLUSIONS: In patients undergoing coronary artery bypass surgery, preoperative anticoagulation management with heparin may represent a risk factor for fatal myocardial infarction. Patterns of heparin resistance, whether or not due to heparin pretreatment, seem to be closely related to fatal myocardial infarction.

Trillium biopassive surface: a new biocompatible treatment for extracorporeal circulation circuits.

139 patients undergoing cardiac surgery were included in a prospective, randomized trial. Patients were randomly allocated to receive cardiopulmonary bypass (CPB) with Trillium Biopassive Surface (TBS Group) coated oxygenators or conventional circuits (control group). 112 patients were studied with respect to postoperative biochemical profile; a subgroup of 27 patients was studied with respect to perioperative complement (C3a) activation. Patients in the TBS group demonstrated a significantly lower white blood cell count at the end of the operation (p=0.036) and a significantly higher platelet count the day after the operation (p=0.023) when compared to the control group. C3a was significantly higher (p=0.02) in the TBS group after 30 minutes of CPB, but the C3a increase after protamine administration was significantly less pronounced in the TBS group vs. the control group. Further studies involving platelet and leukocyte activation are required to better elucidate the action of this new coating in the setting of routine CPB.

Genotoxic effects of cadmium chloride on human amniotic fluid cells cultured in vitro.

In this study we report the results of cytogenetic tests, namely a search for chromosome aberrations (CA) and sister chromatid exchanges (SCEs), performed on human amniotic fluid cells cultured and treated with Cadmium chloride. The cells from primary cultures were exposed to CdCl2 at 1 microM and 10 microM for 24 h. At the higher dose, no metaphases were scored and at the lower dose (1 microM) no effects were evident on cell proliferation, and no chromosome aberrations were found. In the subsequent experiments we used cells from subcultures exposed to 1 microM and 5 microM CdCl2. At the 5 microM dose was evident the induction of chromatid breaks, while the frequency of sister chromatid exchanges shows a small increase, not statistically significant at the dose of 1 microM. In this study we positively demonstrated that amniotic fluid cells grown in vitro are reliable for testing various mutagenic or teratogenic substances. With regard to cadmium treatment results, it is evident a clastogenic effect of cadmium chloride but not a significant induction of SCEs.

Predictors for heparin resistance in patients undergoing coronary artery bypass grafting.

Heparin resistance (HR) is a common event in cardiac operations. At present, no clear recognition of the risk factors for HR has been reached. The aim of this study was to determine a predictive model for HR, based on the preoperative patient's profile. Two hundred consecutive patients scheduled for elective coronary artery bypass operations were enrolled in a prospective trial. Demographics, type of preoperative anticoagulation therapy and preoperative coagulation profile were collected and statistically analysed with respect to the evidence of a HR. Heparin resistance was defined as at least one activated clotting time < 400 s after heparinization and/or the need for purified antithrombin III (AT-III) administration. With a multivariate analysis we could identify five predictors for HR: AT-III < or = 60%; preoperative subcutaneous heparin therapy; intravenous heparin therapy; platelet count > or = 300000 cells/mm3; age > or = 65 years. We conclude that HR is a predictable event. In the presence of all the risk factors, the likelihood of HR is 99%; in the absence of all of them, it is 10%. Predicting HR allows us to apply many possible therapeutic strategies.

Obesity and coronary artery surgery.

OBJECTIVE: To assess whether obesity is a risk factor for morbidity and mortality in patients undergoing elective coronary artery revascularization. DESIGN: Prospective, clinical study. SETTING: University hospital. PARTICIPANTS: Three hundred forty-five consecutive patients who underwent elective coronary revascularization with cardiopulmonary bypass and without associated procedures. INTERVENTIONS: Patients were assigned to the obese group if their body mass index was greater than 30 for men and 28.6 for women, according to the World Health Organization indications. MEASUREMENTS AND MAIN RESULTS: Preoperative and intraoperative variables were collected and checked for homogeneity of the groups. Postoperative outcome was assessed on the basis of intubation time, intensive care unit (ICU) and postoperative hospital stay, mortality rate, and incidence of transfusions, reoperations, low-output syndrome, minor and major neurologic dysfunction, minor and major lung dysfunctions, renal dysfunction, and superficial and deep infections. The effect of obesity on postoperative outcome was tested with a multivariate logistic regression analysis. Obese and control patients had the same intubation time and ICU and postoperative hospital stay. Mortality and all major complications occurred with the same incidence in the two groups. Obese patients had a significantly (p < 0.05) greater rate of superficial infections and more (24.1% v 7.4%; p < 0.001) minor lung complications. Conversely, they had a significantly lower transfusion rate (27.5% v42.7%; p < 0.01). CONCLUSION: Obese patients had only minor complications after coronary artery surgery. The large body surface area because of obesity protects them against the hemodilution-related transfusion risk.

Postoperative analgesia for early extubation after cardiac surgery. A prospective, randomized trial.

BACKGROUND: Early extubation after cardiac surgery is a procedure recently gaining interest due to its ability to shorten intensive care unit and hospital stay and to limit the operation-related costs. Its use, however, raised new problems in terms of pain control in the early postoperative course, due to the need for limiting opioid analgesia. This study deals with non-opioid pain control after cardiac surgery and early extubation. METHODS: Prospective, randomized trial aimed to investigate the effectiveness of three intravenous analgesic drugs (ketorolac, 60 mg i.v.; propacetamol, 2 g i.v.; tramadol, 200 mg i.v.) for the management of postoperative pain in early extubated cardiac surgical patients. Each treatment group comprised 20 patients. RESULTS: The pain assessment (5-item verbal scale) demonstrated a significant (p < 0.05) lower value in patients treated with ketorolac vs propacetamol, while patients treated with tramadol did not significantly differ from the other two groups. There was a significantly (p < 0.05) higher rate of patients with severe pain in propacetamol group. Patients treated with tramadol had a significantly (p < 0.01) higher PaCO2 (48 +/- 6 mmHg) versus patients treated with ketorolac (43.4 +/- 3.7 mmHg) or propacetamol (42.9 +/- 3.4 mmHg). CONCLUSIONS: Tramadol and ketorolac seem to be the best options for treating postoperative pain in the specific setting of early extubation after cardiac surgery; high doses of tramadol may result in a significant even if clinically not relevant respiratory depression.

Normothermic perfusion and lung function after cardiopulmonary bypass: effects in pulmonary risk patients.

Fifty patients at risk for postoperative lung dysfunction and undergoing elective coronary revascularization have been randomly assigned to receive normothermic (36 degrees C) perfusion with warm heart protection (NP group) or hypothermic (28 degrees C) perfusion with cold heart protection (HP group). Lung function before and after cardiopulmonary bypass (CPB) was studied through the determination of the intrapulmonary shunt (Qs/Qt), the alveoloarterial oxygen gradient (A-a delta O2), and the artero-alveolar carbon dioxide gradient (a-A delta CO2). The Qs/Qt after CPB was significantly lower in the NP group (27.1 +/- 2.6 vs 35.7 +/- 2.3) as well as the A-a delta O2 (50.2 +/- 1.5 vs 57.6 +/- 2.4), both data returned to comparable between the groups after 3 h in the intensive care unit. The a-A delta CO2 was significantly lower after CPB in the NP group (5.2 +/- 0.74 vs 8.2 +/- 0.8). Hospital stay and mortality were comparable in the two groups; intubation time and rate of early extubation showed a trend in favour of the NP group; the rate of patients suffering hypoxia and/or hypercapnia after extubation was significantly lower in the NP group (12%) versus the HP group (44%). Normothermia seems to exert a protective effect against lung dysfunction after CPB. The absence of a rewarming injury associated with reperfusion, a limitation of the hypothermic-induced vasoconstriction due to local cooling of the lung and a better compliance of the normothermic lung are hypothesized as beneficial effects of the 'all-warm' strategy.