Referral patterns: an audit into referral practice among doctors in emergency medicine.

OBJECTIVES: To develop a standard for safe patient referral from emergency medicine (EM) staff to hospital inpatient specialities; to audit adherence to that standard, and from this audit, to identify potential risk areas in this aspect of patient care; to make recommendations for reducing such risks; and to implement those recommendations. METHOD: A standard was introduced and practice was compared to that standard using a telephone questionnaire. RESULTS: Many problems arising at referral were identified. From these, recommendations were made for improvements. At the base hospital, those recommendations were implemented. These potential pitfalls are highlighted, together with strategies for improving safe handover of patient care. The discussion includes a review of the literature on safe handovers, which underpins both the importance of this subject and our findings and recommendations. CONCLUSIONS: Referral is an important skill for many doctors, particularly those in EM. It requires teaching and practice. The corollary to this is that education in this arena is also essential for those receiving referrals, to ensure smooth communication and safe systems of handover for patients.

Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene.

Friedreich ataxia is usually caused by an expansion of a GAA trinucleotide repeat in intron 1 of the FRDA gene. Occasionally, a fully expanded allele has been found to arise from a premutation of 100 or less triplet repeats. We have examined the sperm DNA of a premutation carrier. This man's leucocyte DNA showed one normal allele and one allele of approximately 100 repeats. His sperm showed an expanded allele in a tight range centering on a size of approximately 320 trinucleotide repeats. His affected son has repeat sizes of 1040 and 540. These data suggest that expansion occurs in two stages, the first during meiosis followed by a second mitotic expansion. We also show that in all informative carrier father to affected child transmissions, with the notable exception of the premutation carrier, the expansion size decreases.

Spinal Muscular Atrophies: An Ongoing Diagnostic Dilemma?

Background: Spinal muscular atrophies (SMAs) are a group of autosomal recessive disorders of anterior horn cell degeneration. Three genes-survival motor neuron (SMN), neuronal apoptosis inhibitory protein (NAIP), and, more recently, p44 (subunit of basal transcription factor II)-have been considered as candidate genes. The region spanning these genes has a complex organization, which makes molecular analysis difficult. Methods and Results: Molecular genetic testing of deletions of exons 7 and 8 of the SMN(T) (telomeric copy) gene and exon 5 of the NAIP(T) (telomeric copy) gene was performed in 39 diagnosed SMA patients, 31 cases referred as possible SMA, and 24 cases of prenatal diagnosis of SMA. Linkage analysis using markers flanking the SMA region was also performed. In general, the findings of involvement of SMN and NAIP gene deletions in patients diagnosed with SMA are in agreement with those previously published. One possible SMA case was found to be homozygously deleted only for exon 7 of SMN(T) and one deleted only for exon 5 of the NAIP(T) gene. Conclusions: SMAs exemplify human inherited disorders in which application of a variety of different techniques and a search for mutations in multiple genes are involved. Deletion testing of candidate genes (SMN, NAIP) is a powerful approach in patients affected or suspected of being affected with SMA. It is proposed that the direct SMN gene deletion test can be offered as the only test for prenatal diagnosis of SMA in families in which the clinically affected sibling has also been shown to have the homozygous deletion.

Diagnostic value of a modified assay of free triiodothyronine in serum.

The performance of a modified commercial (Diagnostic Products Corp.) assay for free triiodothyronine in serum was evaluated, and its diagnostic value was compared with two other methods for free triiodothyronine estimation in euthyroid subjects and in patients with thyroid dysfunction. No advantage was demonstrated for the modified assay as an index of thyroid status. In conditions involving thyroxin-binding globulin excess the modified assay produced misleading results more frequently than did the comparison methods.