A total population study of chronic childhood spinal muscular atrophy (arrested Werdnig-Hoffmann disease, Kugelberg-Welander SMA type II and III) was undertaken in north-east England to establish gene carrier frequencies, incidence, prevalence. The incidence this disease 1 24 100 live births. Prevalence 1.20 per 100,000 the general population. technique for estimating an autosomal recessive frequency known presence dominant new mutations (or phenocopies), using data from a segregation...

Ciguatera is a type of food poisoning that results from eating certain tropical fish which have become toxic. It common in Australia: 175 outbreaks, involved 527 people, were reported Queensland between 1965 and 1984. seems restricted to areas around the Australian coastline. Most reports narrow-barred Spanish mackerel, Scomberomorus commersoni, most caught southern waters. Up 2100 cases may occurred north 1984, not recorded by writers. The symptoms ciguatera Australia are similar those...

Ciguatera is a widespread ichthyosarcotoxaemia with dramatic and clinically important neurological features. This severe form of fish poisoning may present either acute or chronic intoxication syndromes constitutes global health problem. little known in temperate countries as potentially problem associated human ingestion large carnivorous that harbour the bioaccumulated ciguatoxins photosynthetic dinoflagellate Gambierdiscus toxicus. neurotoxin stored viscera have eaten concentrated it...

A retrospective total population study of acute Werdnig-Hoffmann disease (spinal muscular atrophy type 1) has been undertaken in three counties North-East England (Northumberland, Newcastle upon Tyne, and Durham). The gene frequency for the is q=0·00625 with a carrier this part English 1 80. data suggest that there may be differences within region sampled, finding keeping other investigations variations region. suggestion second most common fatal autosomal recessive childhood Britain...

Norms for hand grip strength of healthy children are presented. Sex and age specific centiles 5 to 18 years have been determined using a portable strain gauge dynamometer with an accuracy 0.5 N. The test group comprised 1417 healthy, urban school from middle class suburb Brisbane. Mean maximum (of four tests, two each hand) mean peak (best tests) were recorded. values 10 15% higher than the average in all groups. At ages girls had reduced compared boys although manifested continual,...

Clinical management of neonates with Trisomy 18 depends on a knowledge life expectancy. True estimates potential span are required for genetic counselling purposes when parents interpret the threat, not only in terms mathematical odds involved, but also quality and length an affected infant, should such be born. This paper reports findings from study to generate tables 18. is total population over 10 years based primary 2.2 million. Forty‐eight cases were identified, five at amniocentesis....

A large total population study of childhood fresh water immersion accidents is reported. The was undertaken in the City Brisbane over five-year period 1971 to 1975 inclusive, and 111 involving children were studied analysed. accident rate, including drowning near-drownings, 10.43 per year 100,000 at risk (fatality rate 5.17) highest If an unsupervised child gets into difficulties loses consciousness he has a 50% chance dying. doubled last six years. Age-specific rates have been calculated,...

Objective: To explore 5 years of drowning deaths in Australia compared with a previous Australian study decade earlier, and to assess the feasibility achieving 50% reduction unintentional by 2020. Design setting: An audit all using data from National Coroners Information System for 1 July 2002 30 June 2007. Main outcome measures: Number rate deaths, age, sex, location, activity, place birth, visitor status, involvement alcohol or drugs. Results: There were 1452 during period (76.4% male)....

This study reports the findings from an investigation to evaluate intra-family dynamics that occurred with 111 cases of childhood drowning and near-drowning in City Brisbane 1971-1975. Personal interviews were obtained 77 families. 24 per cent parent-dyads separated following their child, whereas none 54 families surviving children separated. Accident generated stresses within studied tended persist for years after incident. Parents volunteered information they drank more, experienced sleep...

In rats histamine and 3-β-aminoethyl-1,2,4-triazole at dose levels of 10 to 40 mg/kg administered orally 1 hour before ligation the pyloric-duodenal junction stimulated secretion gastric HCl without significantly altering volume secretion. Given subcutaneously, neither nor triazole or under comparable conditions. When compounds were immediately after pylorus, was increased by 20 triazole, but it not affected subcutaneous administration similar doses. dogs one most powerful stimulators known....

76 cases of acute Werdnig-Hoffmann disease (acute infantile spinal muscular atrophy) have been reviewed. The comprise an unselected consecutive series in which rigid diagnostic criteria applied. natural history the has investigated. In at least one-third is manifest before or delivery. All shown delayed milestones by 5 months age: 95% are dead 18 months. Cumulative frequency curves for age onset and death figures presented use both as prognostic guidelines aids management sibs index cases....

BackgroundDopamine is a key modulator of striatal function and learning might improve motor recovery after stroke. Previous small trials dopamine agonists stroke provide equivocal evidence effectiveness on improving recovery. We aimed to assess the safety efficacy co-careldopa plus routine occupational physical therapy during early rehabilitation stroke.MethodsThis double-blind, multicentre, randomised controlled trial versus placebo in addition NHS was done at 51 UK acute inpatient...

Ciguatera is a distressing, hitherto-untreatable and not rare disease which results from the eating of ciguatoxin-contaminated fish tropical subtropical waters. We report here pilot study to assess efficacy mannitol therapy in ciguatera poisoning. Twelve adult patients (six men) have been treated, five whom — who were ill acutely experienced significant benefit this therapy, three cases, with hitherto-unexperienced dramatic reversal symptoms. conclude that an intravenous infusion 1.0 g/kg...

Introduction: Non‐intentional child drowning remains a leading cause of mortality. A related and secondary syndrome is composed those who drown in impulsive, altruistic attempts to go the aid child. Such ‘rescuers’ attempt save may themselves drown, tragic event we term AVIR or aquatic victim‐instead‐of‐rescuer. Methods: This study five‐year (1 July 2002 30 June 2007) total population Australian survey, using National Coroners Information System identify cases an analysis every immersion...

A clinical and genetic study of spinal muscular atrophy (SMA) adult onset is reported. analysis all cases SMA occurring over a ten-year period in North-east England (48 index cases) has shown that chronic proximal distinct entity, not variant the more common relatively benign late juvenile cases. Nine have been studied, 6 families. The median age was 35 years mean at initial medical presentation 37 years. sex ratio 5:4 (males:females). condition there no evidence to date life expectancy...

Publication of medical research is both a monitor the researcher's ethics and an audit local or regional committee that approved it. Selectivity publication intention to publish lessens this audit. Opinions differ about what ethically allowable in clinical benchtop research. Ethical permission ethical monitoring are subject hierarchy pyramidal controls, starting hospital ending with local, institutional, committee. Currently, such committees function widely varying degrees efficiency quality...

Patterns of accidental poisoning in children are changing dramatically. A five year population study (1977-81) was undertaken urban from Brisbane (population 1 000 000). total 2098 were poisoned during this period with only one fatality, which represents a dramatic reduction mortality. Over the past 15 years (1968-82) 13 have died population, and two murdered drugs. secular trends has indicated that peak incidence occurred 1979, rate been falling progressively since. The current age...

The results of a 10 year study bicycle fatalities and an eight serious non-fatalities are reported for urban Brisbane (population 1,000,000). There were 845 non-fatal accidents 46 during the study. Boys involved in 86% accidents. have accident rate 134.21 per 100,000 population at risk fatality 5.06 risk. Serious increased by 50% this decade; but considering fatal cases alone, no secular trend was evident over period This suggests that increase overall has been part compensated less...

A study of all serious childhood immersion accidents (both drowned and near-drowned cases) is reported from Hawaii. This a total population-based survey 140 consecutive cases (0--15 years) occurring during the five-year period (1973--1977. Age-specific, sex-specific, osmolality-specific (salt versus fresh water) data are presented both for survivors fatalities. The overall annual drowning rate 3.1 per 100,000 children at risk low, water-oriented society. survival following loss consciousness...

Journal Article THE GENETIC IDENTITY OF ACUTE INFANTILE SPINAL MUSCULAR ATROPHY Get access J. H. PEARN, PEARN M.R.C. Clinical Genetics Unit, Institute of Child Health, London, and The Hospital for Sick ChildrenGreat Ormond Street, London Search other works by this author on: Oxford Academic PubMed Google Scholar C. O. CARTER, CARTER WILSON Brain, Volume 96, Issue 3, September 1973, Pages 463–470, https://doi.org/10.1093/brain/96.3.463 Published: 01 1973 history Received: 11 January

The data from the Brisbane Drowning Study have been analysed in this article to provide guidlelines for preventive strategies. separate causal links comprising drowning chain identified, and quantitative scores assigned three identifiable groups of causative factors–environmental, parent-related victim-related. causes child are absence a safety barrier or fence around water hazard, non-supervision child, parental "vulnerable period", an inadequate barrier, tempting objects on water....