Two cases of confined placental mosaicism for chromosome 4, including one with maternal uniparental disomy.

Two cases of trisomy 4 mosaicism are reported including one with molecularly confirmed uniparental disomy (UPD) of chromosome 4. Cytogenetic analysis of a chorionic villus sample (CVS) in Case 1 showed complete trisomy 4 in trophoblast and diploidy in chorionic stroma. Amniotic fluid analysis demonstrated a 46,XX complement.

An association between skewed X-chromosome inactivation and abnormal outcome in mosaic trisomy 16 confined predominantly to the placenta.

Skewed X-chromosome inactivation (XCI) is frequently found in the diploid fetal tissues of individuals with mosaic trisomy that originated from a 'trisomic zygote rescue' event. This may result from a high number of trisomic cells in the embryonic cell pool at the time of XCI, which are subsequently eliminated by selection. We hypothesize that extremely skewed XCI in these mosaic cases will be associated with a poor fetal outcome due to failure to completely eliminate the trisomy from all fetal tissues.

Parental and meiotic origin of triploidy in the embryonic and fetal periods.

Triploidy is a common finding both in early spontaneous abortions and in the fetal period. Previous studies suggested that the majority of triploidy was the result of diandry, specifically dispermy. Molecular determination of parental origin in fetal triploids has shown that digyny accounts for the majority of triploids in the fetal period.

Emergency department ultrasound scanning for abdominal aortic aneurysm: accessible, accurate, and advantageous.

Study Objective: This study was conducted to determine whether emergency physicians with relatively limited training and experience can accurately identify the presence or absence of abdominal aortic aneurysms (AAAs) by performing bedside ultrasound scanning, and to assess the potential impact of ultrasound scanning on clinical management.

Methods: Patients in whom AAAs were suspected, including those patients older than 50 years presenting with abdominal/back pain of unclear origin or presumed renal colic, were eligible for study entry. Consenting adults had ultrasound scanning by an emergency physician who was not responsible for their primary care.

A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation.

Hyperkalemic periodic paralysis (HyperKPP) is an autosomal dominant skeletal muscle disorder caused by single mutations in the SCN4A gene, encoding the human skeletal muscle voltage-gated Na(+) channel. We have now identified one allele with two novel mutations occurring simultaneously in the SCN4A gene. These mutations are found in two distinct families that had symptoms of periodic paralysis and malignant hyperthermia susceptibility.

A phase I study of oxidized raffinose cross-linked human hemoglobin.

Objective: To evaluate the safety of oxidized-raffinose cross-linked human hemoglobin, Hemolink, in normal healthy volunteers.

Design: Randomized, placebo-controlled, double-blind study.

Setting: Clinical research facility of a contract research organization.

A time-motion study of digital radiography at implementation.

With increasing budgetary restraints on the health system, it is apparent that the main contribution that radiology departments can make to significant cost reduction in hospitals is to decrease the length of time between requesting an X-ray examination and receiving the report (and images). Digital radiography (DR) was introduced into the Radiology Department at the Royal Adelaide Hospital as a pilot project to research the cost-benefits and efficiency of the system, and to determine future directions for planning a digital department. The business plan developed prior to implementation of this pilot project predicted a saving of one bed-day per inpatient when a fully digital department with a picture archiving and communication system (PACS) is installed.

A comparative study of a digital radiography system.

The present study aimed to examine the efficiency of a new digital radiography system that was installed in the Royal Adelaide Hospital in September 1997, as compared to the existing conventional radiography system. A total of 55 examinations were observed over a 3-week period in January, and these consisted of 18 digital and 10 conventional chest examinations, and 27 conventional orthopaedic examinations. These were combined with 18 digital orthopaedic examinations recorded from a prior study.

Comparative genomic hybridization: a new approach to screening for intrauterine complete or mosaic aneuploidy.

In the practice of clinical genetics chromosomal aneuploidy in both mosaic and nonmosaic forms has long been recognized as a cause of abnormal prenatal and postnatal development. Traditionally, cytogenetic analysis of cultured lymphocytes has been used as a standard test for detection of constitutional aneuploidies. As lymphocytes represent only one lineage, chromosomal mosaicism expressed in other tissues often remains undetected.

Month of birth in deficit and non-deficit schizophrenic patients.

In order to test the hypothesis that an excess of summer births is a risk factor for deficit syndrome, the month of birth was studied in 53 deficit schizophrenic patients compared to 158 non-deficit patients. No significant difference in terms of month of birth or season of birth was observed between deficit and non-deficit patients, suggesting that summer births might not be a risk factor for deficit schizophrenia.

Clinical and molecular findings in two patients with russell-silver syndrome and UPD7: comparison with non-UPD7 cases.

The clinical presentation of prenatal and postnatal growth deficiency, triangular face, relative macrocephaly, and body asymmetry is frequently diagnosed as Russell-Silver syndrome (RSS). Maternal uniparental disomy (UPD) of chromosome 7 was reported previously in a small subset of individuals with RSS phenotype or primordial growth retardation. The primary purpose of this study was to identify RSS patients with UPD7 and determine whether or not they present phenotypic findings that distinguish them from RSS patients without UPD7.

MRI geometric distortion: a simple approach to correcting the effects of non-linear gradient fields.

We present a method to correct intensity variations and voxel shifts caused by non-linear gradient fields in magnetic resonance images. The principal sources of distortion are briefly discussed, as well as the methods of correction currently in use. The implication of the gradient field non-linearities on the signal equations are described in a detailed way for the case of two- and three-dimensional Fourier imaging.

Confirmation of linkage in X-linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3-Xp22.1.

The syndrome of infantile spasms, hypsarrhythmia, and mental retardation (West syndrome) is a classical form of epilepsy, occurring in early infancy, which is etiologically heterogeneous. In rare families, West syndrome is an X-linked recessive condition, mapped to Xp11.4-Xpter (MIM 308350).

Thalassemia carrier screening and prenatal diagnosis among the British Columbia (Canada) population of Chinese descent.

The goal of thalassemia screening is the identification, prior to the conception or birth of an affected child, of couples where both partners are thalassemia carriers. When both partners are identified as carriers for alpha- or beta-thalassemia, the risk of having a fetus who is homozygous or compound heterozygous for the abnormal gene is 25%. A study was performed to identify whether routine screening for thalassemia is indicated for the Chinese population in British Columbia (BC).

The spectrum of mutations in UBE3A causing Angelman syndrome.

Angelman syndrome (AS) is characterized by mental retardation, absence of speech, seizures and motor dysfunction. AS is caused by maternal deletions for chromosome 15q11-q13, paternal uniparental disomy (UPD), imprinting defects or loss-of-function mutations in the UBE3A locus which encodes E6-AP ubiquitin-protein ligase. The UBE3A gene is imprinted with paternal silencing in human brain and similar silencing of the Ube3a locus in Purkinje cells and hippocampal neurons in the mouse.

Clinical and radiological predictors of complete excision in breast-conserving surgery for primary breast cancer.

Background: Local recurrence after conservative surgery for breast cancer usually results from growth of residual cancer adjacent to the excised primary tumour or from multicentric disease. Complete local excision (CLE) confirmed histologically is essential to ensure that the risk of local recurrence is minimal. This study was undertaken to determine that clinical or radiological factors may assist the surgeon at the time of surgery to achieve this aim.

Acute exposure to aliphatic hydrocarbons: an unusual cause of acute tubular necrosis.

Acute tubular necrosis is not an uncommon phenomenon, but it rarely results from environmental factors. We describe a patient in whom acute renal failure developed 2 times after overexposure to aliphatic hydrocarbons and discuss some potential pathophysiological mechanisms. This association has rarely been reported in the literature.

Family history and obstetric complications in deficit and non-deficit schizophrenia: preliminary results.

The aim of this study was to test that deficit (D) schizophrenic patients as defined by Carpenter et al had a higher prevalence of family history of schizophrenia but less obstetric complications than non-deficit (ND) patients. A lower rate of obstetric complications but an excess of schizophrenic and a higher rate of alcoholism family antecedents in 18 D patients compared to 23 ND patients were found. These results could suggest that there is a different weight of genetic and early environmental factors in D and ND patients.

Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination.

Non-disjoined chromosomes 15 from 115 cases of uniparental disomy (ascertained through Prader-Willi syndrome) and 13 cases of trisomy of maternal origin were densely typed for microsatellite loci spanning chromosome 15q. Of these 128 cases a total of 97 meiosis I (MI) errors, 19 meiosis II (MII) errors and 12 mitotic errors were identified. The genetic length of a map created from the MI errors was 101 cM, as compared with a maternal length of 137 cM based on CEPH controls.

Plasma and peritoneal endothelin levels and blood pressure in CAPD patients with or without erythropoietin replacement therapy.

The aim of the study was to determine the ET-1 concentration in peritoneal dialysate fluid and to investigate the relationship between peritoneal and plasma ET-1 levels and blood pressure in stable continuous ambulatory peritoneal dialysis (CAPD) patients with and without human recombinant erythropoietin (r-HuEPO) replacement therapy. Twenty-seven stable CAPD patients were investigated. They completed their overnight exchange at the Dialysis Centre.

Linkage of malignant hyperthermia and hyperkalemic periodic paralysis to the adult skeletal muscle sodium channel (SCN4A) gene in a large pedigree.

Hyperkalemic periodic paralysis (HPP) is caused by mutations of the adult skeletal muscle sodium channel (SCN4A) gene on chromosome 17. Malignant hyperthermia (MH) is a genetically heterogeneous autosomal-dominant disorder occurring in association with various neuromuscular diseases or without other apparent abnormalities. In some families, MH is associated with mutations of a calcium release channel (RYR1) gene on chromosome 19.

Hemodynamic and hormonal changes during erythropoietin therapy in hemodialysis patients.

To better understand the mechanism of recombinant human erythropoietin (rhEPO)-induced increase in BP, hemodynamic parameters, body fluid volumes, and the hormones implicated in BP regulation were studied in 32 anemic hemodialysis patients before and after 3 to 4 mo of rhEPO therapy. Hemoglobin levels increased from 83 +/- 1.5 to 119 +/- 2.