Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes.

BACKGROUND: Infantile cardiomyopathy is a genetically heterogeneous disorder with significant morbidity and mortality. METHODS: This study aimed to identify the mutation present in four unrelated patients who presented as infants with isolated hypertrophic cardiomyopathy. RESULTS: In all four, a novel mitochondrial m.8528T-->C mutation was identified. This results in a change of the initiation codon in ATPase 6 to threonine and a concurrent change from a highly conserved hydrophobic amino acid, tryptophan, at position 55 of ATPase 8 to a highly basic arginine. To our knowledge, this is the first report of a mutation affecting both mitochondrial genome-encoded complex V subunit proteins. Testing of the relatives of one patient indicated that the mutation is heteroplasmic and correlated with disease. CONCLUSION: Mitochondrial genome sequencing should be considered in patients with infantile hypertrophic cardiomyopathy.

"Nanocasting": using SBA-15 silicas as hard templates to obtain ultrasmall monodispersed gamma-Fe2O3 nanoparticles.

This work describes the use of mesoporous SBA-15 silicas as hard templates for the size-controlled synthesis of oxide nanoparticles, with the pores acting as nanoscale reactors. This fundamental work is mainly aimed at understanding unresolved issues concerning the occurrence and size dependence of phase transitions in oxide nanocrystals. Aqueous solutions of Fe(NO3)3*9H2O are deposited inside the pores of SBA-15 silicas with mesopore diameters of 4.3, 6.6, and 9.5 nm. By calcination, the nitrate salt transforms into FeOx oxides. The XRD peaks of nanocrystals are broad and overlapping, resulting in ambiguities attributed to a given allotropic variety of Fe2O3 (alpha, epsilon, or gamma) or Fe3O4. The association of XRD, SAED, and Raman information is necessary to solve these ambiguities. The metastable gamma-Fe2O3 variety is selectively formed at low Fe/Si atomic ratio (ca. 0.20) and when a low calcination temperature is used (773 or 873 K followed by quenching to room temperature once the targeted temperature is reached). The small size dispersion of the patterned nanoparticles, suggested on a local scale by TEM, is confirmed statistically by magnetic measurements. The nanoparticles have a superparamagnetic behavior around room temperature. Their magnetic moments (from 220 to 370 mB), their sizes (from 4.0 to 4.8 nm), and their blocking temperatures (from 36 to 58 K) increase with the silica template mesopore diameter. Their magnetic properties are compared to those of standard gamma-Fe2O3 nanoparticles of similar size, obtained by coprecipitation in water and stabilized by a citrate coating.

Pseudomonas pericarditis in an immunocompetent newborn: unusual presentation with review of the literature.

Acute purulent pericarditis is a rare entity in the neonatal age group. The most common isolated organisms are Staphylococcus aureus, Haemophilus influenzae, and Streptococcus pneumoniae. Other organisms, like Pseudomonas aeruginosa, have been seldom implicated with only one case of Pseudomonas pericarditis reported in the neonatal period. The prognosis is often considered very poor in this age group. This article describes Pseudomonas pericarditis in a 1-week-old immunocompetent female newborn who was successfully managed with combined medical and surgical therapy.

Rescue use of DNase in critical lung atelectasis and mucus retention in premature neonates.

Excessive or thick pulmonary secretions are a common clinical challenge in the neonatal population. Mucus accumulation can cause many life-threatening complications, including plugging of the endotracheal tube and increasing the risk of pulmonary infections. We report 3 premature neonates who had critical pulmonary collapse secondary to mucous plugging. Different conventional methods to liquefy mucus and facilitate removal of secretions were exhausted to no avail. The rescue use of DNase was effective in reestablishing airway patency. Thus, this drug could be a valuable tool in treating atelectasis and mucus-plugging in mechanically ventilated, premature neonates.

High frequency ventilation.

High frequency ventilation (HFV) is a general term that refers to a family of mechanical ventilation techniques that involves ventilator rates that are supraphysiological (more than 60 breaths/minute), and utilizes tidal volumes that are equal or less than the anatomical dead space of the airways. This paper is a review of the different HFV techniques, along with the mechanisms of oxygenation and ventilation, the clinical applications, and management strategies for different disease entities, and possible complications of HFV.

High frequency ventilation in five different neonatal pathologies.

High frequency ventilation (HFV) has been used for the last two decades. Several questions related to its optimal use, comparative efficacy of different types of HFV, as well as the role of HFV in different diseases are still debated and under investigation. Literature reviews discussing the controversies in high frequency ventilation have rather emphasized the importance of a disease strategy rather then the type of HFV. In this article, a presentation and discussion of five patients with different HFV strategies admitted and managed with HFV at the American University of Beirut-Medical Center.

Changes in hematologic parameters associated with liver transplantation.

Full text is available as a scanned copy of the original print version.

Interval breast cancers in an Australian mammographic screening program.

OBJECTIVE: To determine the incidence of interval cancers which occurred in the first 12 months after mammographic screening at a mammographic screening service. DESIGN: Retrospective analysis of data obtained by crossmatching the screening Service and the New South Wales Central Cancer Registry databases. SETTING: The Central & Eastern Sydney Service of BreastScreen NSW. PARTICIPANTS: Women aged 40-69 years at first screen, who attended for their first or second screen between 1 March 1988 and 31 December 1992. MAIN OUTCOME MEASURES: Interval-cancer rates per 10000 screens and as a proportion of the underlying incidence of breast cancer (as estimated by the underlying rate in the total NSW population). RESULTS: The 12-month interval-cancer incidence per 10000 screens was 4.17 for the 40-49 years age group (95% confidence interval [CI], 1.35-9.73) and 4.64 for the 50-69 years age group (95% CI, 2.47-7.94). Proportional incidence rates were 30.1% for the 40-49 years age group (95% CI, 9.8-70.3) and 22% for the 50-69 years age group (95% CI, 11.7-37.7). There was no significant difference between the proportional incidence rate for the 50-69 years age group for the Central & Eastern Sydney Service and those of major successful overseas screening trials. CONCLUSION: Screening quality was acceptable and should result in a significant mortality reduction in the screened population. Given the small number of cancers involved, comparison of interval-cancer statistics of mammographic screening programs with trials requires age-specific or age-adjusted data, and consideration of confidence intervals of both program and trial data.

Serum prolactin levels following augmentation mammaplasty.

A prospective study to evaluate the possible relationship between augmentation mammaplasty, a chronic irritant to the breast, and serum prolactin levels was carried out. Eleven healthy female subjects were studied. Serum prolactin levels were determined twice prior to surgery and at 1 and 3 weeks after surgery. No significant change was detected in the postoperative prolactin values. In four subjects evaluated 3 months following surgery, the prolactin levels also remained unchanged. In addition, none of the women developed galactorrhea during their observation period. These results suggest that the placement of a Silastic implant for augmentation mammaplasty may not be a chronic stimulus leading to either galactorrhea or elevation of prolactin levels.

Inhibition by estradiol of human chorionic gonadotropin-induced progesterone accumulation in isolated human luteal cells: lack of mediation by prostaglandin F.

Estradiol has been previously reported to be a potent inhibitor of hCG-stimulated progesterone accumulation in isolated cells from human corpora lutea of the menstrual cycle. We assessed the role of prostaglandin (PG) in this in vitro estradiol-induced inhibition by measuring PGF and adding a blocker of PG synthesis (indomethacin) to the incubation medium. The inhibition by estradiol of hCG-stimulated progesterone accumulation occurred without any increase in PGF accumulation in the incubations. Furthermore, PGF accumulation was markedly reduced (P less than 0.05) at all concentrations of indomethacin testes (0.1, 1, and 10 microgram/ml), but the inhibitory effect of estradiol on hCG-stimulated progesterone accumulation was not prevented. These data suggest that the inhibitory effect of estradiol observed in vitro is not mediated by PGs.