Malcolm M Fisher

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Ophthalmo-acromelic syndrome (OAS), also known as Waardenburg Anophthalmia syndrome, is defined by the combination of eye malformations, most commonly bilateral anophthalmia, with post-axial oligosyndactyly. Homozygosity mapping and subsequent targeted mutation analysis of a locus on 14q24.2 identified homozygous mutations in SMOC1 (SPARC-related modular(More)
Mp is an irradiation-induced mouse mutation associated with microphthalmia, micropinna and hind limb syndactyly. We show that Mp is caused by a 660 kb balanced inversion on chromosome 18 producing reciprocal 3-prime gene fusion events involving Fbn2 and Isoc1. The Isoc1-Fbn2 fusion gene (Isoc1(Mp)) mRNA has a frameshift and early stop codon resulting in(More)
Congenital anomalies of the kidney and urinary tract (CAKUTs) are common disorders of human development affecting the renal parechyma, renal pelvis, ureter, bladder and urethra; they show evidence of shared genetic aetiology, although the molecular basis of this remains unknown in the majority of cases. Breakpoint mapping of a de novo, apparently balanced,(More)
AIM The purpose of this study was to compare the effects of the contract-relax-contract (CRC) and hold-relax-contract (HRC) proprioceptive neuromuscular facilitation (PNF) stretching programs against a control, on external range of motion (ROM) of the shoulder in apparently healthy athletes. METHODS The subjects were male and female adults between the(More)
We have tested the hypothesis that intradermal testing is a more effective method for determining the drug responsible for anaesthetic anaphylactic reactions than prick testing in 212 consecutive patients, aged more than 10 yr, referred to an anaesthetic allergy clinic over a 4-yr period. The study was a prospective, non-randomized design. Intradermal(More)
The decision to withdraw or withhold life supporting treatment in moribund patients is difficult under any circumstances. When the patient becomes incompetent to clarify their wishes regarding continued maintenance in long-term facilities, surrogates sometimes cannot agree, further clouding the issue. We examine a case where the State's interests come into(More)
Background: For logistical reasons sedation studies are often carried out in elective surgical patients and the results extrapolated to the general intensive care unit (ICU) population. We question the validity of this approach. We compared the two sedation regimens used in our general ICU in a trial structured to mimic clinical practice as closely as(More)
In 1982, the author attended a lecture by Professor Joseph Civetta dealing with the concept that, at times, the goal of care should be comfort rather than cure, and that inappropriate care prolonged dying and suffering. Efforts to improve end-of-life care subsequent to this had effects on care at a local level and at a state level. Intensive care providers(More)
SUMMARY A 35-year-old female had severe anaphylactoid reactions to pnlocaine and lignocaine on separate occasions Intradermal testing was positive to serial dilutions of both drugs and negative to bupivacaine, which was subsequently used uneventfully While intradermal testing for local anaesthetic allergy has limited application it would appear that when(More)
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