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Biomedical subjects

S J Moore

Publications and source records attributed to S J Moore.

At least 19 recordsLinked to original sources
PubMed2005

Characteristics of fetal anticonvulsant syndrome associated autistic disorder.

The aim of this study was to evaluate the clinical features and frequency of autistic disorder or Asperger syndrome (AS; according to Diagnostic and Statistical Manual of Mental Disorders, 4th edition [DSM-IV] criteria) in children exposed to anticonvulsant medication in utero. During a 20-year study period, 626 children were born in Aberdeen to mothers taking antiepileptic drugs (AEDs). The study examined long-term effects of prenatal exposure to AEDs in 260 children (122 males, 138 females). Of these, 26 (16 males) were reported by parents to have social or behavioural difficulties. Eleven children (6 males, 5 females) fulfilled the DSM-IV criteria for autistic disorder and one (female) fulfilled the DSM-IV criteria for AS. These children comprised 4.6% of the exposed children studied, and 1.9% of all exposed children born during the study period. Mean age of these children at diagnosis was 5 years 4 months (SD 2y 11mo) and 9 years 10 months (SD 3y 10mo) at the time of this study. Other children from the group of 26 had difficulties in areas of speech and language development and social communication but did not meet the criteria for an autism spectrum disorder (ASD). Sodium valproate was the drug most commonly associated with autistic disorder, five of 56 (8.9%) of the study children exposed to sodium valproate alone had either autistic disorder or AS. It was concluded that prenatal exposure to anticonvulsant medication is a risk factor for the development of an ASD. Fetal anticonvulsant syndrome associated autistic disorder is characterized by an even sex ratio, absence of regression or skill loss, and language delay in the absence of global delay.

Anticonvulsants↗
PubMed2004

Bardet-Biedl syndrome 1 genotype and obesity in the Newfoundland population.

BACKGROUND AND OBJECTIVES: Obesity is one of the primary clinical features of Bardet-Biedl Syndrome (BBS), a genetically heterogeneous disorder that is usually inherited as an autosomal recessive trait. It has been suggested that heterozygous carriers of BBS are predisposed to obesity. We set out to identify the common mutation in BBS1 families from southwest Newfoundland and to examine the relationship between this mutation and obesity in the general population. METHODS AND SUBJECTS: We genotyped BBS1 families from Newfoundland to determine the nature of the mutation causing BBS in this population. We then screened 200 obese individuals (average body mass index (BMI)=37.9 kg/m2; average waist to hip ratio=0.935; average waist=113.8 cm) and 200 ethnically matched, unrelated, controls (average BMI=25.0 kg/m2; average waist to hip ratio=0.896; average waist=86.9 cm) from the same geographic region for the presence of this mutation. RESULTS: All affected members of the six Newfoundland BBS1 families were homozygous for the most common BBS1 mutation (M390R). This mutation was found in the heterozygous state in three of the 200 obese individuals and also in three of the 200 matched controls. CONCLUSIONS: The high frequency of BBS1 in Newfoundland appears to be the result of a founder event. Our data do not support the hypothesis that the M390R BBS1 mutation plays a significant role in the frequency of obesity in the general public in Newfoundland.

Adult↗
PubMed2002

Pharmacological agents as cerebral protectants during deep hypothermic circulatory arrest in adult thoracic aortic surgery. A survey of current practice.

A postal survey was sent to members of the Association of Cardiothoracic Anaesthetists to ascertain current practice in the use of pharmacological agents as cerebral protectants during deep hypothermic circulatory arrest. The response rate was 60%. Eighty-three per cent of respondents used some form of pharmacological agent specifically for cerebral protection. Fifty-nine per cent of respondents used thiopental, 29% used propofol and 48% used a variety of other agents, the most common of these being a steroid. There were variations in the dose and timing of administration of drugs. Few respondents believed that there was a body of evidence to support this use of pharmacological agents. Only 35% of respondents believed there to be sufficient evidence to support the use of thiopental. Similarly, only 11% of respondents believe that there is evidence supporting the use of propofol, and 16% the use of steroids. The above findings demonstrate that it would not be possible to create a "best practice" set of guidelines at present. A national database of all cases of adult thoracic surgery involving deep hypothermic cardiac arrest, with methodology and outcome, could probably establish such guidelines, evidence based.

Adult↗
PubMed2002

Long term health and neurodevelopment in children exposed to antiepileptic drugs before birth.

OBJECTIVE: To investigate the frequency of neonatal and later childhood morbidity in children exposed to antiepileptic drugs in utero. DESIGN: Retrospective population based study. SETTING: Population of the Grampian region of Scotland. PARTICIPANTS: Mothers taking antiepileptic drugs in pregnancy between 1976 and 2000 were ascertained from hospital obstetric records and 149 (58% of those eligible) took part. They had 293 children whose health and neurodevelopment were assessed. MAIN OUTCOME MEASURES: Frequencies of neonatal withdrawal, congenital malformations, childhood onset medical problems, developmental delay, and behaviour disorders. RESULTS: Neonatal withdrawal was seen in 20% of those exposed to antiepileptic drugs. Congenital malformations occurred in 14% of exposed pregnancies, compared with 5% of non-exposed sibs, and developmental delay in 24% of exposed children, compared with 11% of non-exposed sibs. After excluding cases with a family history of developmental delay, 19% of exposed children and 3% of non-exposed sibs had developmental delay, 31% of exposed children had either major malformations or developmental delay, 52% of exposed children had facial dysmorphism compared with 25% of those not exposed, 31% of exposed children had childhood medical problems (13% of non-exposed sibs), and 20% had behaviour disorders (5% of non-exposed). CONCLUSION: Prenatal antiepileptic drug exposure in the setting of maternal epilepsy is associated with developmental delay and later childhood morbidity in addition to congenital malformation.

Abnormalities, Drug-Induced↗
PubMed2001

The efficacy of different mosquito trapping methods in a forest-fringe village, Yunnan Province, Southern China.

Despite a control program, malaria incidence in Yunnan has increased and knowledge of vector bionomics is needed for efficient control. Multi-drug resistant Plasmodium falciparum necessitates alternatives to human landing catches as a means of studying vectors. Therefore CDC light traps with UV or ordinary incandescent bulbs were tested for 57 trap nights. 2,703 mosquitos were caught, including the vector species An. minimus and An. sinensis and the suspected vector An. maculatus. Larval An. dirus were found around the village but no adults were trapped. UV light traps caught more mosquitos than the traps with incandescent bulbs, but caught many insects other than mosquitos requiring time-consuming separation, and were unpopular with villagers. Traps placed in living areas of houses caught more mosquitos than those placed beside bednets and the catch mainly comprised species that were active in the early evening. Encephalitis Vector Surveillance (EVS) traps hung outdoors and baited with CO2 caught few mosquitos. CDC traps in the same position baited with CO2 or lactic acid caught large numbers of Culex tritaeniorhynchus. Indoor spray catches recovered human fed An. vagus and An. minimus. This work confirmed that CDC light traps could be used to trap local vectors, and the abundance of early active mosquitos in the living area suggests that personal protection measures may be required in the evening, to supplement bed net use.

Animals↗
PubMed2000

Developing diagnostic criteria for the fetal anticonvulsant syndromes.

The prevalence of congenital malformations and cognitive disorders in children whose mothers took antiepileptic drugs in pregnancy is increased, compared with the background rate. Not all such cases are due to teratogenic effects of the mother's treatment. Certain problems, including neonatal withdrawal symptoms, some malformations, characteristics facial features and a typical developmental and behavioural pattern may be indicators of a probable teratogenic event. We describe a set of diagnostic criteria which may assist in defining which children are likely to have a fetal anticonvulsant syndrome. This may help future research to identify risk factors which predispose to an adverse fetal outcome.

Abnormalities, Drug-Induced↗
PubMed2000

A clinical study of 57 children with fetal anticonvulsant syndromes.

BACKGROUND: Anticonvulsants taken in pregnancy are associated with an increased risk of malformations and developmental delay in the children. To evaluate the pattern of abnormalities associated with prenatal anticonvulsant exposure further, we undertook a clinical study of 57 children with fetal anticonvulsant syndromes. METHODS: Fifty two children were ascertained through the Fetal Anticonvulsant Syndrome Association and five were referred to the Aberdeen Medical Genetics Service. Pregnancy and medical history were obtained through a standardised questionnaire and interview and the children were examined. RESULTS: Thirty four (60%) were exposed in utero to valproate alone, four (7%) to carbamazepine alone, four (7%) to phenytoin alone, and 15 (26%) to more than one anticonvulsant. Forty six (81%) reported behavioural problems, 22 (39%) with hyperactivity or poor concentration of whom four (7%) had a diagnosis of attention deficit and hyperactivity disorder. Thirty four (60%) reported two or more autistic features, of whom four had a diagnosis of autism and two of Asperger's syndrome. Forty four (77%) had learning difficulties, 46 (81%) had speech delay, 34 (60%) had gross motor delay, and 24 (42%) had fine motor delay. Nineteen (33%) had glue ear and 40 (70%) had joint laxity involving all sizes of joints. Of 46 who had formal ophthalmic evaluation, 16 (34%) had myopia. CONCLUSIONS: Speech delay, joint laxity, glue ear, and myopia are common in the fetal anticonvulsant syndromes and autistic features and hyperactivity form part of the behavioural phenotype.

Abnormalities, Drug-Induced↗
PubMed2000

Effects of altering dietary cation-anion difference on calcium and energy metabolism in peripartum cows.

Our objective was to determine the effects of varying dietary cation-anion differences (DCAD: meq[(Na + K) - (Cl + S)]/100 g of dry matter) in prepartum diets on Ca, energy, and endocrine status prepartum and postpartum. Holstein cows (n = 21) and heifers (n = 34) were fed diets with varying amounts of CaCl2, CaSO4, and MgSO4 to achieve a DCAD of +15 (control), 0, or -15 meq/100 g of dry matter for the last 24 d before expected calving. Dietary Ca concentration was increased (by CaCO3 supplementation) with decreasing DCAD. Plasma ionized Ca concentrations prepartum and at calving in both cows and heifers increased with reduced DCAD in the diet. At calving, plasma ionized Ca concentration was 3.67, 3.85, and 4.35 for cows and 4.44, 4.57, and 4.62 mg/dl for heifers fed diets containing +15, 0, and -15 DCAD, respectively. All heifers had normal concentrations of plasma ionized Ca (>4 mg/dl) at calving. Also at calving, plasma concentrations ofparathyroid hormone and calcitriol were less in cows and heifers fed diets containing reduced DCAD, but the plasma concentration of hydroxyproline was not affected by diet. Prepartum dry matter intake, energy balance, and body weight gains were lower and concentration of liver triglyceride was higher for heifers but not cows fed the -15 DCAD diet. Also, nonesterified fatty acids the last week prepartum were positively correlated with liver triglyceride for heifers but not cows. Feeding of anionic salts plus CaCO3 to reduce DCAD to -15 and increase Ca in prepartum diets prevents hypocalcemia at calving in cows, but decreases prepartum dry matter intake and increases the concentration of liver triglyceride in heifers. That heifers maintained calcium homeostasis at calving regardless of diet but ate less when fed the -15 DCAD diet suggests that they should not be fed anionic salts before calving.

Animals↗
PubMed1999

Partial lipodystrophy presenting with myopathy.

A girl with partial lipodystrophy is described presenting with muscle weakness and developmental delay several years before lipoatrophy became apparent. The patient subsequently developed epilepsy, fatty liver, secondary amenorrhoea, hirsutism, insulin-resistant diabetes mellitus, hyperlipidaemia, and hypothyroidism. She remains weak with poor exercise tolerance. This case illustrates an atypical presentation of the Barraquer-Simon syndrome.

Adolescent↗
PubMed1999

Fetal anticonvulsant syndrome and mutation in the maternal MTHFR gene.

Around 6% of infants born to mothers taking anticonvulsants have malformations, including neural tube defects, and a further proportion show developmental delay in later childhood. Three commonly used anticonvulsants, carbamazepine, phenytoin and sodium valproate, interfere with folic acid metabolism. We investigated the common 677 C>T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene in samples from 57 patients and their parents and 152 controls to determine its contribution to the risk of fetal anticonvulsant syndrome. The 677 C>T mutation frequency was significantly higher in the mothers than in the controls, but there was no significant difference in 677 C>T frequency in the patients or in the fathers. Genotype frequencies in the mothers were significantly different from controls, there being an excess of 677 C>T homozygotes. Amongst the patients, there was an apparent excess of heterozygotes (not statistically significant), and the fathers were not significantly different from controls. Mutation in the MTHFR gene in a mother taking sodium valproate, phenytoin or carbamazepine during pregnancy is associated with fetal anticonvulsant syndrome in her offspring. The skewed distribution of genotypes in the affected children probably reflects the association of fetal anticonvulsant syndrome with the maternal genotype.

Anticonvulsants↗
PubMed1999

Fragile X syndrome with FMR1 and FMR2 deletion.

We report a 13 year old boy with fragile X syndrome resulting from a de novo deletion of the FMR1 and FMR2 genes extending from (and including) DXS7536 proximally to FMR2 distally. The patient has severe developmental delay, epilepsy, and behavioural difficulties, including autistic features. He has epicanthic folds, in addition to facial features typical of fragile X syndrome, and marked joint hypermobility. We compare our patient to the three other cases reported in which both FMR1 and FMR2 are deleted. This case has the smallest deletion reported to date. All four patients have epilepsy and a more severe degree of mental retardation than is usual in fragile X syndrome resulting from FMR1 triplet repeat expansion. Three of the patients have joint laxity and two have epicanthic folds. We suggest that these features, in particular severe developmental delay and epilepsy, may form part of the characteristic phenotype resulting from deletion of both FMR1 and FMR2 genes. The diagnosis in this case was delayed because routine cytogenetics showed no abnormality and standard molecular tests for FMR1 triplet repeat expansion (PCR and Southern blotting) failed. Further DNA studies should be undertaken to investigate for a deletion where clinical suspicion of fragile X syndrome is strong and routine laboratory tests fail.

Adolescent↗
PubMed1995

Estimating stand transpiration in a Eucalyptus populnea woodland with the heat pulse method: measurement errors and sampling strategies.

Sap flow measurement techniques, such as the heat pulse (compensation) method, are practical means for estimating the water use of individual trees and are often the only reasonable alternative for measuring forest and woodland transpiration in complex heterogeneous terrain. The need to scale estimates of water use from a sample of individual stems to a stand (population) of known area may be satisfied by applying scalars of flux based on tree size or domain. We estimated the aggregate errors in applying the heat pulse technique to the estimation of stand transpiration in a poplar box (Eucalyptus populnea F.J. Muell.) woodland in southeastern Queensland, Australia, by a combination of precision analyses, experimental validation and Monte Carlo simulations of sampling errors. Errors in sap flux density measurements were approximately 13%. The potential error in the flux estimates for individual stems with stratified sampling of sap flux density with depth and bole quadrant based on four sensors was an additional 25%. Conducting wood area, diameter at 1.3 m, leaf area and domain based on Ecological Field Theory all proved excellent scalars of flux at the stand level. With a sample size of six trees stratified by diameter, coefficients of variation in scaling to the stand level were approximately 5% for any of these scalars. The greatest potential source of error in estimating stand transpiration by the heat pulse method was in the measurement of the fluxes of individual stems; scaling these measurements to a homogeneous stand of trees involved less uncertainty.

Journal Article↗
PubMed1993

Immunocytochemical mapping of the novel echinoderm neuropeptide SALMFamide 1 (S1) in the starfish Asterias rubens.

The recent isolation and characterization of the SALMFamide neuropeptides S1 and S2 from the starfish Asterias rubens has initiated a series of studies on their distribution. Specific antisera have been raised against S1 and used in light-microscopical immunocytochemistry. The results of this study reveal for the first time a possible hyponeural innervation of the visceral musculature of the gut and the widespread neuronal distribution of S1, (i) in axons and cell bodies of both ectoneural and hyponeural regions of the radial nerve cord and circumoral nerve ring, (ii) in the nerve ring and nerve plexus of the tube feet, (iii) in the apical muscle, (iv) in skin, and (v) extensively throughout the digestive system. These discoveries are of particular interest in terms of the possible functional roles for S1 in Asterias rubens.

Amino Acid Sequence↗
PubMed1991

Severe hypoxia produced by concomitant intoxication with sublethal doses of carbon monoxide and cyanide.

It has long been known that a number of tissue hypoxicants are generated in the fire scenario. However, until recently few investigators have undertaken to correlate smoke inhalation deaths with the simultaneous exposure to histotoxic hypoxicants. Carbon monoxide and hydrogen cyanide are two histotoxic hypoxicants that are generated in nearly every fire. Prior studies performed in our laboratory have demonstrated that death can result from concomitant exposure to otherwise sublethal concentrations of carbon monoxide and cyanide. Since most smoke inhalation victims exhibit acid/base anomalies, we sought to investigate whether the death associated with simultaneous exposure to these two hypoxicants, at concentrations widely held to be nonlethal, could be explained by acid/base imbalances. Male ICR mice were exposed to 0.35% carbon monoxide immediately after having been injected ip with potassium cyanide solution, or were challenged with either agent alone. Animals challenged with cyanide or carbon monoxide alone demonstrated significant hypoxia. However, animals challenged with both agents demonstrated much greater hypoxia than could be explained by an additive effect alone. Controls demonstrated no alteration in acid/base homeostasis. Blood pH perturbations were found to be due to severe lactic acidosis coupled with inadequate respiratory compensation. Thus, it appears that the synergistic lethal effect of simultaneous administration of carbon monoxide and cyanide are related to a precipitous decrease in blood pH, the tissue hypoxia and its resulting complications.

Animals↗
PubMed1989

The early ontogeny of the afferent nerves and papillary ridges in human digital glabrous skin.

The present study examines the early ontogeny of afferent nerves in human embryonic glabrous digital skin and documents the onset of cutaneous innervation and papillary (sweat duct) ridge formation by light and electron microscopy. The skin examined in this study was taken from 3 developmental stages of decreasing embryonic age: embryos older than 10 weeks estimated gestational age (EGA) representing the period of primary ridge formation, embryos of 8-9 weeks EGA representing the period immediately prior to ridge formation; and embryos 6-8 weeks EGA representing the period weeks before the onset of ridge formation. The earliest papillary ridges are present in 10 week EGA embryos, with small ridges present in two sites: the center of the proximal third and also at the tip of the distal phalangeal or apical pad. These papillary ridges typically contained Merkel cells. Papillary ridges formed progressively in a radial manner from these central foci. The proximal focus corresponds to the geometric center of the mature dermatoglyphic pattern of loops, arches, or whorls. This radial wave of ridge differentiation is discontinuous with the abrupt cessation of ridge formation responsible for the discontinuities in the mature papillary ridges and the corresponding dermatoglyphic print. Skin over the proximal and middle phalanges developed papillary ridges beginning in the 12th week. No papillary ridges could be identified in embryos of 8-9 weeks EGA, but a large number of growth cones are present in the superficial dermis subjacent to differentiating Merkel cells. The basal lamina of the epidermis was discontinuous wherever growth cones abutted Merkel cells. Merkel cells not directly associated with axons were also present in the epidermis of embryos of 8-9 weeks EGA. The embryos of 6-8 weeks EGA lack any sign of Merkel cells and/or melanocytes, but developing neurovascular bundles with axonal growth cones near the epidermis could be identified by light and electron microscopy. Presumptive Schwann and perineural cells are also seen in the dermis. We conclude that the developing afferent nerve fibers provide a grid which influences the temporal and/or spatial factors involved in the sequential onset and cessation of formation of papillary ridges. Thus the dermatoglyph can reflect the ontogeny of the afferent nervous system that occurred prior to papillary ridge development. These observations lend support to the concept that successive waves of afferent neural development have an important role in the spatial and temporal sequence of papillary ridge formation and thus the formation of both the dermatotopic map of the digits and the dermatoglyph.

Embryonic and Fetal Development↗