Iron lung versus mask ventilation in acute exacerbation of COPD: a randomised crossover study.

OBJECTIVE: To compare iron lung (ILV) versus mask ventilation (NPPV) in the treatment of COPD patients with acute on chronic respiratory failure (ACRF). DESIGN: Randomised multicentre study. SETTING: Respiratory intermediate intensive care units very skilled in ILV. PATIENTS AND METHODS: A total of 141 patients met the inclusion criteria and were assigned: 70 to ILV and 71 to NPPV. To establish the failure of the technique employed as first line major and minor criteria for endotracheal intubation (EI) were used. With major criteria EI was promptly established. With at least two minor criteria patients were shifted from one technique to the other. RESULTS: On admission, PaO(2)/FiO(2), 198 (70) and 187 (64), PaCO(2), 90.5 (14.1) and 88.7 (13.5) mmHg, and pH 7.25 (0.04) and 7.25 (0.05), were similar for ILV and NPPV groups. When used as first line, the success of ILV (87%) was significantly greater (P = 0.01) than NPPV (68%), due to the number of patients that met minor criteria for EI; after the shift of the techniques; however, the need of EI and hospital mortality was similar in both groups. The total rate of success using both techniques increased from 77.3 to 87.9% (P = 0.028). CONCLUSIONS: The sequential use of NPPV and ILV avoided EI in a large percentage of COPD patients with ACRF; ILV was more effective than NPPV on the basis of minor criteria for EI but after the crossover the need of EI on the basis of major criteria and mortality was similar in both groups of patients.

Gene therapy and intracytoplasmatic sperm injection (ICSI) - a review.

Human gene therapy (HGT), the treatment or prevention of disease by gene transfer is, regarded by many, as a potential revolution in medicine, because gene therapies target the causes of disease, whereas most current drugs treat the symptoms. Micro-assisted fertilization in the form of intracytoplasmatic sperm injection (ICSI) has truly revolutionized the treatment options for couples with impaired semen quality, and those with both obstructive and non-obstructive azoospermia. ICSI involves the injection of a single sperm directly into the cytoplasm of a mature egg (oocyte) using a glass needle (pipette). Fertilization with this technique occurs in 50%-80% of injected oocytes, but may damage a small percentage of them. With gene therapy, there are new and varied strategies for gene transfer and genome sequence manipulation with improved methodologies that use the technique of microinjection such as the intracytoplasmatic sperm injection-mediated transgenesis (ICSI-Tr), active transgenesis or the pronuclear microinjection technique. This review will look at these methods as well as their potential applications and limitations.

Prenatal diagnosis of a de novo satellited chromosome 18 (18ps) associated with 18p deletion.

De novo satellited non-acrocentric chromosomes are very rare findings in prenatal diagnosis. Here we report the first case of a de novo 18ps, associated with del(18p), detected at prenatal diagnosis. A 37 years old woman underwent Chorionic Villus Sampling (CVS) for advanced maternal age. Cytogenetic analysis on direct CVS preparation (CVSc) revealed a male karyotype with a nonfamilial satellited 18ps and a reciprocal translocation t(17;19)(P11.1;q11) of maternal origin. The mesenchimal CVS culture (CVSm) showed a mosaic of cell lines with various involvement of chromosome 18: 18ps [36/70]/ r(18) [25/70]/ del(18p) [3/70]/ -18 [6/70]. Amniotic fluid cells (AFC) confirmed the homogeneous karyotype found at CVSc. The molecular cytogenetic characterization, performed on AFC, allowed the following diagnosis: 46,XY, +15, dic(15;18)(p11.1;p11.2), t(17;19)(p11.1;q11)mat. ish dic(15;18)(tel 18p-, D15Z1+, wcp18-, wcp 18+, D18Z1+, tel 18q+). The foetal autopsy disclosed subtle facial dysmorphisms and corpus callosum hypoplasia. In case of prenatal detection of de novo terminal ectopic NORs an accurate cytogenetic and molecular analysis should be performed in order to rule out subtle unbalancements.

Cholinesterase evaluation in the prenatal diagnosis of open neural tube defects.

Alpha-fetoprotein (AFP) and cholinesterase levels in amniotic fluid were determined and the efficiency of these laboratory tests in the prenatal diagnosis of neural tube defects was examined. Using the AFP test with cut-off levels correlated to gestational age, we have detected 8 cases of neural tube defects and one case of abdominal wall defect in about 1,200 pregnancies; false-negative values were absent. Acetylcholinesterase (AChE) and butyrylcholinesterase activities were measured and the electrophoretic pattern of AChE was examined in 100 amniotic fluid samples. The diagnosis of neural tube defects was always confirmed. There were no diagnostic problems due to blood-contaminated amniotic fluid samples. The results obtained using different quantitative methods for the determination of cholinesterase activity, as well as the potential use of these tests in routine examinations, are discussed.