MLL5, a homolog of Drosophila trithorax located within a segment of chromosome band 7q22 implicated in myeloid leukemia.

Proteins encoded by Polycomb and Trithorax-group (Pc-G and Trx-G) genes regulate developmental fates by maintaining or repressing HOX gene expression, respectively. In a search for candidate myeloid leukemia tumor suppressor genes from a approximately 2.5 Mb commonly-deleted segment within chromosome band 7q22, we identified a novel human Trithorax (Trx) family member named MLL5.

Genomic structure of the PIK3CG gene on chromosome band 7q22 and evaluation as a candidate myeloid tumor suppressor.

PIK3CG, which encodes the catalytic subunit p110 gamma of phosphoinositide 3-OH-kinase-gamma (PI3K gamma), has been assigned to chromosome band 7q22, a region that is frequently deleted in myeloid malignancies. PI3K gamma-mutant mice have hematologic defects and are predisposed to colon cancer. On the basis of these data, PIK3CG was evaluated as a candidate myeloid tumor suppressor gene (TSG).

AV nodal pathways in the R-R interval histogram of the 24-hour monitoring ECG in patients with atrial fibrillation.

Background: Patients with more than one AV nodal pathway show two and more peaks in the histogram of the R-R intervals of the Holter monitoring ECG during atrial fibrillation. It was the purpose of the present study to determine the number of patients showing more than one AV nodal pathway in a larger patient group with permanent atrial fibrillation by analyzing the Holter monitoring ECG.

Methods: 250 patients with permanent atrial fibrillation during Holter monitoring ECG were studied; 203 patients had structural heart disease.

Candidate gene isolation and comparative analysis of a commonly deleted segment of 7q22 implicated in myeloid malignancies.

Monosomy 7 and deletion of 7q are recurring abnormalities in malignant myeloid diseases. Here we extensively characterize an approximately 2-Mb commonly deleted segment (CDS) of 7q22 bounded by D7S1503 and D7S1841. Approximately 1.

Effects of continuous stretching on cell proliferation and collagen synthesis in human burn scars.

Hypertrophic and contracted scars are common complications of deep and partial thickness burns, and the usual way to prevent them is to stretch the burn are actively as well as passively. However, little has been written about the effects of stretching on burn scar tissue at a cellular and molecular level. The stretching usually results in an increased area of skin, and a central question is whether this is caused by stimulation of cell proliferation or decreased cell density, which could lead to impaired quality of the skin.

Multiple symmetric lipomatosis: an unusual cause of childhood obesity and mental retardation.

Multiple symmetric lipomatosis (MSL), also known as Launois-Bensaude syndrome or Madelung's disease, is a rare disorder predominantly seen in middle-aged male patients. The disorder is characterized by large subcutaneous fat masses distributed around the neck, shoulders, and other parts of the trunk, often associated with nervous system abnormalities. A close relationship to alcoholism, metabolic disturbances and malignant tumours has been observed.

Detection of antiphospholipid antibodies in children and adolescents.

The prevalence of antiphospholipid antibodies (APAs) has not yet been studied in children and adolescents with various diseases. We assayed plasma samples of 203 children and adolescents, aged 0.1 to 21 years (median 6 years), by enzyme-linked immunosorbent assay detecting immunoglobulin G (IgG) and IgM antibodies directed against cardiolipin, phosphatidylserine, and phosphatidic acid.

Pulmonary banding complicated by low origin of right pulmonary artery.

In our attempt to band the main pulmonary artery above the valve in a 4-month-old prematurely born infant, we erroneously banded only the left pulmonary artery, owing to the unusually low origin of the right pulmonary artery (which arose partially in the sinus of Valsalva). When severe cardiac failure recurred, the anomaly was noted upon reoperation and the band was repositioned at the level of the pulmonary valve. Since this revision, the postoperative course has been good.

The evolving pattern of pediatric endocarditis from 1960 to 1985.

A diagnosis of endocarditis was made in 37 patients (three days to 21 years old) on the basis of the following: histology in 11; at least two positive blood cultures in patients with underlying cardiac disease in 22; less than two positive blood cultures, vegetations seen at echocardiography and a suggestive clinical syndrome in four. Twenty-six patients had primary endocarditis (17 with pre-existing cardiopathy, nine with normal hearts). The 11 others developed secondary endocarditis following heart surgery (early onset in six, late onset in five).

Echocardiographic and anatomic findings in atrioventricular discordance with ventriculoarterial concordance.

Atrioventricular (AV) discordance with ventriculoarterial (VA) concordance is a rare form of congenital heart disease that consists of 5 different anatomic types. The salient therapeutic consideration uniting these 5 different anatomic entities is that anatomic correction can be achieved by an atrial switch procedure with closure of any associated septal defect. Three patients who had AV discordance with VA concordance are presented, with emphasis upon 2-dimensional echocardiographic diagnosis and surgical management.

[Cardiac pacemakers in children. 15 years' experience].

Between 1971 and 1986, 85 pacemakers were implanted at the St Justine Hospital, Montreal, in 57 young patients (25 girls, 32 boys) then aged from one day to 23 years (mean 10.3 years). The patients were followed up for periods ranging from 15 days to 13.

Extracorporeal shock wave lithotripsy for the treatment of bulbous urethral stones.

Extracorporeal shock wave lithotripsy was used to treat multiple, large, bulbous urethral calculi in a paraplegic man. Prior attempt at endoscopic extraction was unsuccessful owing to the size and location of the calculi. Two treatments of 3,000 shocks each resulted in fragmentation of the calculi

Implantation of a permanent pacemaker in a premature infant.

In March 1984 we implanted a permanent, dual-chambered pacemaker in a 2.1-kg premature male infant suffering from congenital atrioventricular block, with an atrial rate of 170 beats per minute, a ventricular rate of 40 beats per minute, and ectopic ventricular escape beats. Through a left anterolateral thoracotomy, we implanted electrodes on the left atrium and left ventricle; through a second incision, in the left flank, we gained access to the retroperitoneal space by finger dissection.

[Congenital unilateral absence of a pulmonary artery].

Congenital absence of a pulmonary artery is a rare entity often followed by complications. Up to now only two patients have done well after revascularization of the affected lung. We have had the opportunity to operate upon the two youngest patients suffering from an absence of a right or left pulmonary artery.