Significant haemoglobinopathies: A guideline for screening and diagnosis

Antenatal screening/testing of pregnant women should be carried out according to the guidelines of the National Health Service (NHS) Sickle Cell and Thalassaemia Screening Programme. Newborn screening and, when necessary, follow-up testing and referral, should be carried out according to the guidelines of the NHS Sickle Cell and Thalassaemia Screening Programme. All babies under 1 year of age arriving in the United Kingdom should be offered screening for sickle cell disease (SCD). Preoperative screening for SCD should be carried out in patients from ethnic groups in which there is a significant prevalence of the condition. Emergency screening with a sickle solubility test must always be followed by definitive analysis. Laboratories performing antenatal screening should utilise methods that are capable of detecting significant variants and are capable of quantitating haemoglobins A₂ and F at the cut-off points required by the national antenatal screening programme. The laboratory must ensure a provisional report is available for antenatal patients within three working days from sample receipt.     

Automated synthesis of (R)-[18F]MH.MZ on the iPhase Flexlab reaction platform

(R)-[¹⁸F]MH.MZ ([¹⁸F]MH.MZ) is a promising positron emission tomography (PET) radiotracer for in vivo study of the 5-HT_2A receptor. To facilitate clinical trials, a fully automated radiosynthesis procedure for [¹⁸F]MH.MZ was developed using commercially available materials on the iPhase Flexlab module. The overall synthesis time was 100 min with a radiochemical yield of 7 ± 0.9% (n = 3). The radiochemical purity was greater than 99% for [¹⁸F]MH.MZ with a molar activity of 361 ± 57 GBq/μmol (n = 3). The protocol described herein reliably provides [¹⁸F]MH.MZ that meets all relevant release criteria for a GMP radiopharmaceutical.     

Lung function in children: a simple guide to performing and interpreting spirometry

Spirometry is the measurement of the volume and flow of air during expiration and inspiration. It is non-invasive and inexpensive and probably under-used in children. Whilst remaining a relatively simple test, it gives valuable information that can be used in the diagnosis and monitoring of respiratory conditions. Adequate spirometry requires good patient engagement, effort and technique. With practice, robust spirometry data can be collected in preschool children as young as 4 years of age. Increasing availability of portable spirometry equipment means that good quality data can be collected in a variety of clinical locations outside the lung function laboratory - even in the patient's own home. There are, however, a number of important considerations in both the performance and interpretation of spirometry. This review considers the equipment required, the basic techniques required and the essentials of interpretation of spirometry data.     

Minor injury attendance times to the ED

The Health Service Executive (HSE) highlights the need for effective patient throughput and management, whilst providing appropriate staffing and therapeutic interventions. It acknowledges that patient need is integral to the development of a nurse led service and advocates planning staffing levels to reflect arrival times of patients.An observational study of all patients who presented to the emergency department in July 2005 and February 2006 was undertaken (n = 7768). The study identified 1577 patients suitable for treatment by the Advanced Nurse Practitioner (ANP) in these two months, which represents 20% of all patient attendances to the ED in this time period. A data collection tool was devised collectively by the ANPs to identify appropriate patients.The findings of the study revealed that 73% of patients suitable for the ANP service presented between the hours of 0800 and 2000, of which 54% attended between 0800 and 1600 h. Sunday emerged as the busiest day in July 2005 whereas Monday was found to be the busiest day in February 2006. Friday was found to be consistently busy for both months.     

Prolonged duration of anesthesia in a patient with multiple sclerosis following paravertebral block

PURPOSE: To explore the possibility that the prolonged duration of anesthesia following paravertebral block was related to the presence of multiple sclerosis in a patient undergoing elective inguinal hernia repair. CLINICAL FEATURES: A healthy 33-yr-old female presented for elective inguinal hernia repair. The procedure was performed under general anesthesia and a paravertebral block was performed at the end of the procedure for postoperative pain relief, whilst the patient was still anesthetized. Upon recovering from general anesthesia it was noted that the patient had a flaccid paralysis of both lower extremities. She was also very nauseated and required antiemetics and vasopressors for hypotension. A differential diagnosis of subarachnoid, subdural or epidural spread was considered. The presence of an epidural hematoma was also considered. The block regressed very slowly with full return of function in 12.5 hr. The duration of action of the block was far longer than one would expect following spinal, epidural or subdural spread of a local anesthetic. Urinary catheterization was performed electively to prevent urinary retention. The patient was discharged home late that evening. Prior to discharge she volunteered that she was being investigated for multiple sclerosis. One month later the diagnosis of multiple sclerosis was confirmed. CONCLUSION: In conclusion the extended duration of central neural blockade following paravertebral block, may have been related to an abnormal uptake of local anesthetics into the spinal cord in the presence of demyelination.     

Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines.

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder with core features of action tremor and cerebellar gait ataxia. Frequent associated findings include parkinsonism, executive function deficits and dementia, neuropathy, and dysautonomia. Magnetic Resonance Imaging studies in FXTAS demonstrate increased T2 signal intensity in the middle cerebellar peduncles (MCP sign) in the majority of patients. Similar signal alterations are seen in deep and subependymal cerebral white matter, as is general cortical and subcortical atrophy. The major neuropathological feature of FXTAS is the presence of intranuclear, neuronal, and astrocytic, inclusions in broad distribution throughout the brain and brainstem. FXTAS is caused by moderate expansions (55-200 repeats; premutation range) of a CGG trinucleotide in the fragile X mental retardation 1 (FMR1) gene, the same gene which causes fragile X syndrome when in the full mutation range (200 or greater CGG repeats). The pathogenic mechanism is related to overexpression and toxicity of the FMR1 mRNA per se. Although only recently discovered, and hence currently under-diagnosed, FXTAS is likely to be one of the most common single-gene disorders leading to neurodegeneration in males. In this report, we review information available on the clinical, radiological, and pathological features, and prevalence and management of FXTAS. We also provide guidelines for the practitioner to assist with identifying appropriate patients for DNA testing for FXTAS, as well as recommendations for genetic counseling once a diagnosis of FXTAS is made.