Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I.

Pseudohypoaldosteronism type I (PHA1) is characterized by neonatal renal salt wasting with dehydration, hypotension, hyperkalaemia and metabolic acidosis, despite elevated aldosterone levels. Two forms of PHA1 exist. An autosomal recessive form features severe disease with manifestations persisting into adulthood.

Ultrasound transmission through the Os calcis in children: which side should we measure?

Ultrasound measurement of the os calcis is a promising technique when evaluating bone status. Large individual differences between the right and left calcaneus in adults were reported. In this study, calcaneal acoustic parameters in 373 healthy children and adolescents were investigated using a CUBAClinical bone densitometer.

Sexual abuse comfort scale: a scale to measure nurses' comfort to respond to sexual abuse in psychiatric populations.

The purpose of the present study was to further contribute to the psychometric evaluation of the Sexual Abuse Comfort Scale (SACS) in order to provide a standardized measure that would assess the impact of educational programmes on nurses' comfort to intervene with psychiatric clients regarding sexual abuse. This study was part of a larger multisite study conducted in four Canadian provinces, designed to assess the attitudes, beliefs, competencies and educational needs of psychiatric nurses who may work with clients who have been sexually abused. As part of the larger study, a self-administered survey was sent to 3532 psychiatric nurses employed in Alberta, Saskatchewan, Ontario and Nova Scotia.

Nurses' views regarding False Memory Syndrome.

Knowledge concerning the storage and retrieval of traumatic memories and so-called False Memory Syndrome has not been widely available in nursing journals. Information in the popular media, however, means that nurses are learning about aspects of the memory debate from such sources. This article reports on 1,701 nurses' views of False Memory Syndrome (FMS).

The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome.

The recessive mutation at the pale ear (ep) locus on mouse chromosome 19 was found to be the homologue of human Hermansky-Pudlak syndrome (HPS). A positional cloning strategy using yeast artificial chromosomes spanning the HPS locus was used to identify the HPS gene and its murine counterpart. These genes and their predicted proteins are highly conserved at the nucleotide and amino acid levels.

sar Genetic determinants necessary for transcription of RNAII and RNAIII in the agr locus of Staphylococcus aureus.

The temporal expression of most virulence factors in Staphylococcus aureus is regulated by pleiotropic loci such as agr and sar. We have previously shown that the sar locus affects hemolysin production because it is required for agr transcription. To delineate the sar genetic determinant required for agr transcription, single copies of fragments from the sar locus, encompassing the individual sar transcripts (sarA, sarC, and sarB), were introduced into a sar mutant via the integration vector pCL84.

Foramina parietalia permagna: report of nine cases in one family.

Nine members of a family with foramina parietalia permagna (FPP), inherited as an autosomal dominant trait are reported. Although usually benign, FPP may be associated with other malformations.

Bacterial capsules: no barrier against Bdellovibrio.

Bdellovibrio bacteriovorus 109J attached to both capsulated and non-capsulated Escherichia coli K29 cells. Electron microscopy revealed penetration of the thick polysaccharide capsule without any major disintegration of the neighbouring capsular matrix. The capsule remained intact during bdelloplast formation and lysis was unaffected by capsulation of the prey cell.

[Magnesium, its role and metabolism].

Magnesium (Mg) is the fourth most abundant cation in the human body and is second only to potassium in intracellular metabolism. Magnesium deficiency results in biochemical, neuromuscular and cardiovascular changes. This review deals with both normal and abnormal Mg metabolism.

Borrelia burgdorferi DNA in the urine of treated patients with chronic Lyme disease symptoms. A PCR study of 97 cases.

The presence of Borrelia burgdorferi DNA was established by PCR from urine samples of 97 patients clinically diagnosed as presenting with symptoms of chronic Lyme disease. All patients had shown erythema chronica migrans following a deer tick bite. Most of the patients had been antibiotic-treated for extended periods of time.

Purification and partial characterisation of a reversible artificial mediator accepting NADH oxidoreductase from Clostridium thermoaceticum.

An NAD(H)-dependent artificial mediator accepting pyridine nucleotide oxidoreductase present in Clostridium thermoaceticum has been purified 50-fold by three chromatographic steps to apparent electrophoretical homogeneity with a yield of 25%. By PAGE and gel filtration the molecular mass of the native enzyme was estimated to be 200 kDa and 210 kDa, respectively. By SDS/gel electrophoresis, a single band was found at 17000 Da, suggesting a homododecamer.

The molecular architecture of the sar locus in Staphylococcus aureus.

The global regulator sar in Staphylococcus aureus controls the synthesis of a variety of cell wall and extracellular proteins, many of which are putative virulence factors. The sar locus in strain RN6390 contains a 339-bp open reading frame (sarA) and an 860-bp upstream region. Transcriptional analyses of this locus revealed three different transcripts of 0.

Advances in poison management.

This article advances the most current concepts in the management of poisoned patients including the use of ipecac, lavage, activated charcoal, whole-bowel irrigation, and specific antidotes. The benefits vs the risks of each of these procedures are reviewed.

Methemoglobinemia from perineal application of an anesthetic cream.

A 34-year-old woman presented with cyanosis and a methemoglobin level of 23.2% after perineal application of a topical anesthetic cream containing 20% benzocaine. Many commonly used products contain high levels of benzocaine, and their use can lead to life-threatening methemoglobin levels.

Characterization of the sar locus and its interaction with agr in Staphylococcus aureus.

The expression of cell wall and extracellular proteins in Staphylococcus aureus is controlled by global regulatory systems, including sar and agr. We have previously shown that a transposon insertion into the 372-bp sarA gene within the sar locus resulted in decreased expression of several extracellular and cell wall proteins (A. L.