Biomedical subjects
Publications and source records attributed to C McMahon.
Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked dominant syndrome characterized by canine teeth with extremely large roots (radiculomegaly), congenital cataract, dysmorphic facial features and congenital heart disease. A case of mother-daughter vertical transmission of OFCD is reported. Dental findings were important in confirming the diagnosis in the mother.
OBJECTIVE: To explore the impact of timing and type of ultrasound, particularly three-dimensional (3D), exposure on maternal-fetal attachment and maternal health behavior during pregnancy. METHODS: Subjects were 68 women aged 18 years or older expecting their first child who presented for a routine ultrasound scan at around either 12 or 18 weeks' gestation in Nepean Hospital, Western Sydney. Women completed questionnaires assessing maternal-fetal attachment and health behavior, and were then allocated arbitrarily to either two-dimensional (2D) or 3D ultrasound examination. Repeat questionnaires were completed 1 week later. RESULTS: Maternal-fetal attachment increased after both 2D and 3D ultrasound exposure, and the effect was moderated by the timing of exposure, with women receiving their first ultrasound examination at around 12 weeks showing the greatest change. Alcohol consumption was the only behavior to show significant change following ultrasound exposure, with a reduction in the reported average number of drinks per week. There was no significant difference in the pattern of change for 2D compared with 3D ultrasound exposure, and no effect of ultrasound exposure on maternal perception of the fetus. CONCLUSIONS: Ultrasound has a positive impact on maternal-fetal attachment, particularly in the first trimester. 3D ultrasound did not offer enhanced benefits. Associations between ultrasound exposure and alcohol consumption warrant further investigation. Larger samples are needed to clarify the moderating effects of gestational age and type of ultrasound exposure.
Recent changes in population movement mean that an increasing number of mothers who deliver in Ireland and their infants are at risk of haemoglobinopathies, in particular sickle cell anaemia. Early detection of sickle cell anaemia improves outcome. For this reason, many hospitals have established antenatal and neonatal screening programmes targeting high-risk ethnic groups. We audited the provision rate of one such programme operated in the National Maternity Hospital in 2003. Using the hospital's databases, we estimated the number of mothers from high-risk ethnic groups, and how many were appropriately screened. We then calculated the neonatal screening provision rate to those infants at risk of homozygous haemoglobinopathies. In 2003, 1231 (14.9%) women from high-risk ethnic groups delivered in the National Maternity Hospital. Nine hundred and ninety one (80.5%) were screened appropriately. One hundred and thirty of these women had abnormal antenatal screens, resulting in 131 infants delivered at risk of homozygous haemoglobinopathy. Fifty eight of these infants (45%) were screened in the neonatal period. The screening programme audited did not achieve a satisfactory provision rate either antenatally or neonatally.
Type I recessive congenital methaemoglobinaemia (RCM), caused by the reduced form of nicotinamide adenine dinucleotide (NADH)-cytochrome b(5) reductase (cytb(5)r) deficiency, manifests clinically as cyanosis without neurological dysfunction. Two mutations, E255- and G291D, have been identified in the NADH-binding lobe of cytb(5)r in previously reported patients, and we have detected a further novel mutation, D239G, in this lobe in two unrelated Irish families. Although one family belongs to the genetically isolated Traveller Community, which separated from the general Irish population during the 1845-48 famine, the D239G mutation was present on the same haplotype in both families. Three known cytb(5)r mutations were also identified, including the R159- mutation, which causes loss of the entire NADH-binding lobe and had previously been reported in an individual with type II RCM. Characterization of the three NADH-binding lobe mutants using a heterologous expression system revealed that all three variants retained stoichiometric levels of flavin adenine dinucleotide with spectroscopic and thermodynamic properties comparable with those of native cytb(5)r. In contrast to the E255- and G291D variants, the novel D239G mutation had no adverse impact on protein thermostability. The D239G mutation perturbed substrate binding, causing both decreased specificity for NADH and increased specificity for NADPH. Thus cytb(5)r deficient patients who are heterozygous for an NADH-binding lobe mutation can exhibit the clinically less severe type I phenotype, even in association with heterozygous deletion of the NADH-binding lobe.
Accurate and precise platelet counting is important for the clinical management of children with platelet disorders. Current automated technologies are often unable to discriminate platelets from non-platelet particles particularly in circumstances where platelet anisocytosis is common. This study compares manual methodology and the automated technologies; impedance, optical density and CD61 immunoplatelet method (available on the Cell Dyn 4000) with the reference method of flow cytometric analysis in a paediatric population. A total of 141 samples were analysed and divided into specific age related groups and groups with thrombocytopenia and thrombocytosis. Data analysis showed that the CD61 method compared best with the reference method and this was evident in all the specified groups. The mean platelet count obtained by optical and manual methods were lower, suggesting that these methods are less reliable. The impedance count method was accurate despite its limitations. Strong correlations were observed in the 2-14 year age group but there was greater variation in the <1 month group supporting the theory that there is a greater variation in platelet characteristics in neonates. The CD61 method is the automated method of choice and would be particularly useful in the problem groups (platelet counts <50 x 10(9)/l and neonates <1 month old).
The overall goal of this review is to highlight the power of zebrafish as a model system for studying complex diseases which involve multiple genetic loci. We are interested in identifying and characterizing genes implicated in the blinding condition of glaucoma. Glaucoma is a complex disease that often involves multiple genetic loci. Most disease causing and modifying genes for glaucoma remain unidentified. However, several genes that regulate various aspects of ocular development have been shown to associate with glaucoma. With zebrafish, forward and reverse genetic approaches can be combined in order to identify critical genetic interactions required for normal and pathological events in the development and maintenance of the eye.
Severe factor IX deficiency is an X-linked disorder which gives rise to spontaneous and often life-threatening bleeds. The major source of morbidity worldwide is recurrent haemarthroses, giving rise to joint destruction and deformity. However, the incidence of spontaneous haemarthroses has decreased since the advent of prophylactic home-based, on-demand, early replacement therapy. We present the case of a non-ambulant, 13-year-old boy from Chernobyl, who did not have access to this type of treatment, and whose deformity was managed using the Ilizarov external fixator. An external fixator was applied under general anaesthetic in theatre. Haemostasis was achieved by maintaining his FIX levels at 1.0 IU mL(-1) pre- and post-operatively. Three months later, the fixed flexion deformity had been reduced from 50 to 5 degrees. Four months postsurgery, this boy was walking freely without pain. There was no peri- or post-operative bleeding or joint swelling.
BACKGROUND: Concerns about possible adverse outcomes for children conceived using ICSI were highlighted in 1998 when 1-year-old ICSI children were found to be at increased risk (relative risk = 9.2) of delayed mental development compared with children conceived naturally or using IVF. As the findings were biologically plausible, it was considered important to reassess child development when a more accurate measure of long-term cognitive ability could be obtained. METHODS: The mental development of 97 ICSI, 80 IVF and 110 naturally conceived (NC) children at 5 years of age was assessed using intelligence quotients (IQ) obtained from the Wechsler Preschool and Primary Scales of Intelligence. RESULTS: The mean full-scale IQ was 110 +/- 18 for ICSI, 111 +/- 13 for IVF and 114 +/- 13 for NC children (P = 0.21, non-significant). ICSI children were not at increased risk for delayed (full-scale IQ <85) cognitive development (ICSI 5.2%, IVF 2.5%, NC 0.9%; P = 0.18, non-significant). The only significant independent predictor of below-average full-scale IQ on multivariate analysis was lower maternal education level. CONCLUSIONS: These findings suggest that the genetic influence of parental cognitive ability is more important than the mode of conception in determining the long-term intellectual ability of children conceived using ICSI.
Most in vivo and in vitro tests with repellents or deterrents against ticks have not considered which sensory channel is being targeted. We have recorded the responses of two hard tick species (Acari: Ixodidae) in vitro to determine if such products can disrupt the perception of an attractant in a repellent assay or the perception of an arrestment stimulus in a deterrent assay. Ethyl butylacetylaminopropionate (EBAAP), N,N-diethyl-methyl-benzamide (deet), permethrin and indalone were chosen to test their capacity to inhibit the attraction of Amblyomma variegatum Fabricius to its aggregation-attachment pheromone. Vapours of each test product plus those from a synthetic blend of the pheromone were delivered to the walking tick in an air stream on a locomotion compensator. Neither EBAAP, deet, permethrin nor indalone could inhibit attraction of A. variegatum even when each of the test products was delivered at 106 times the pheromone. Indalone did decrease the attraction of A. variegatum to the pheromone and induced repulsion of A. variegatum when presented on its own in the air stream. The effect of permethrin, a sodium channel blocker, was also tested in a deterrent assay measuring the arrestment of Ixodes ricinus (L.) adults on its own faeces and faecal constituents. Permethrin deterred arrestment at doses of 670 fg/cm2 to 67 ng/cm2, i.e. at levels five times lower than the dose of chemostimuli present in the arrestment stimulus. This sensitivity to permethrin suggests that it acts via the contact chemoreception channel.
Ticks are of medical and veterinary importance and employ several cues in search of a host. Olfaction is one modality by which ticks locate a blood-meal and breath is the major vent of gaseous and volatile metabolites from the host that could contribute to this search. We studied the responses of a hunter tick, Amblyomma variegatum, to diluted human breath and five of its components (acetone, CO2, NO, isoprene and NH3) while walking in an air stream on a locomotion compensator. Diluted breath elicited the greatest responses of all treatments in terms of time to onset of upwind walk, attraction, speed and local search behaviour after stimulus off. Acetone, NO and CO2 also attracted, but with a reduced speed in the case of acetone and NO. Neither isoprene nor NH3 induced any response. Our study indicates that breath was the most adequate stimulus tested. It also attracted two other ixodid tick species, Rhipicephalus sanguineus and Ixodes ricinus, as well as the argasid tick, Ornithodorus moubata. It appears that the evolution of resource tracking in ticks included sensory and behavioural adaptations for recognition and orientation to host metabolites that are regularly expelled in breath.
OBJECTIVE: To ascertain the effectiveness of an individualized multidisciplinary residential programme for managing young unsettled infants and whether changes in unsettled behaviour were maintained. METHODS: One hundred and nine clients of a Tresillian residential unit with singleton infants aged less than 20 weeks were studied before, during and after intervention. Mothers completed a 24 h infant activity record prior to admission, during the stay and 1 month after discharge. Intervention consisted of settling techniques, parent education, support and counselling. RESULTS: By day 4 of admission, the mean duration of unsettled (fussing, crying) behaviour had decreased significantly and mean sleeping time and awake/content times both increased significantly (P < 0.001). These changes were maintained 1 month after discharge. Changes in behaviour were particularly marked for very unsettled infants. CONCLUSIONS: In the absence of formal controls, the individualized programme appears effective in managing the behaviour of unsettled infants.
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Carbonic anhydrase II (CAII), found in renal tubules, brain, and osteoclasts, is critical in acid-base homeostasis and bone remodeling. Deficiency of CAII gives rise to a syndrome of osteopetrosis, renal tubular acidosis (RTA), and cerebral calcification with associated developmental delay. It is inherited in an autosomal recessive fashion and found most frequently in the Mediterranean region and the Middle East. We report 2 related Irish families with clinically severe CAII deficiency in whom the gene mutation has been fully elucidated. Two children, one from each family, have undergone allogeneic bone marrow transplantation because of severe progressive visual and hearing loss. The older 2 children had already developed cerebral calcification and marked visual loss at the time of diagnosis and were treated symptomatically. Post-transplantation evaluation at 2 and 3 years demonstrates histologic and radiologic resolution of their osteopetrosis with stabilization of hearing and vision. Both children remain developmentally delayed and continue to have RTA, and the older child has now developed cerebral calcification. Allogeneic bone marrow stem cell replacement cures the osteoclast component of CAII deficiency and retards the development of cerebral calcification, but it appears to have little or no effect on the renal lesions. (Blood. 2001;97:1947-1950)
Volatiles from various life-stages of the bont ticks Amblyomma variegatum and A. hebraeum were collected by using solid-phase microfibers and charcoal traps. An octenol isomer was found to be a major constituent of most of the tick material sampled and was identified as 1-octen-3-ol by gas chromatography-mass spectrometry and by using antenna of the tsetse fly Glossina brevipalpis in gas chromatography-linked antennogram detection. Release of this compound increased during molt to adulthood and following mechanical disturbance of adult ticks. (R)-(-)-1-Octen-3-ol and racemate 1-octen-3-ol both induce an increase in upwind walk to the odor source from A. variegatum in an airstream on a servosphere. Volatiles from tick exuviae plus feces and from dead ticks also attracted A. variegatum, suggesting that 1-octen-3-ol may contribute to the aggregation response of Amblyomma spp. on such substrates. 2,6-Dichloroanisol and 2,5-dimethylpyrazine also were detected in volatiles from the ticks but induced no behavioral responses on the servosphere. The suspected tick pheromone component, 2,6-dichlorophenol, was detected from A. variegatum adults cut into pieces but had no effect on the behavior of A. variegatum on the servosphere at a range of doses.
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OBJECTIVE: This study compares maternal mood, marital satisfaction and infant temperament in 128 mothers admitted to the residential care unit of a parentcraft hospital and 58 mothers in a demographically matched group. METHOD: Mothers were recruited from the residential care unit of a parentcraft hospital (Tresillian Family Care Centres) and a comparison group from a private obstetric practice in the same demographic area. Both groups completed self-report questionnaires on depression, anxiety and marital adjustment, while mothers in the residential care group also received a structured diagnostic interview for depression (CIDI). RESULTS: Sixty-two per cent of mothers in the residential care group met diagnostic criteria for a major depressive episode occurring since childbirth and a further 13% met DSM-IV research criteria for minor depression. The residential care group also scored significantly higher on both state and trait anxiety and rated their infants as significantly more temperamentally difficult than did the comparison group. CONCLUSIONS: This study replicates a previous Australian finding of a high incidence of maternal mood disorders in mothers admitted to parentcraft hospitals. Acknowledgement of the close association between maternal mood state and unsettled infant behaviour facilitates an integrated multidisciplinary approach offering appropriate management for both mothers and infants. Residential care units may be ideally suited to provide such early intervention strategies in a non-stigmatizing environment, but provision of adequate staff support, mental health consultation, education and skills in managing mental health problems in these settings is important.
PURPOSE: The American College of Sports Medicine and the Centers for Disease Control and Prevention (ACSM-CDC) recommend 30 min of daily moderate-intensity physical activity for health; however, the effectiveness of this recommendation in lowering blood pressure (BP) in hypertensives is unclear. The present study tested the hypothesis that walking activity following the ACSM-CDC physical activity recommendation would lower BP in postmenopausal women with high BP. METHODS: Resting BP was measured in 24 postmenopausal women with borderline to stage 1 hypertension at baseline, 12 wk, and 24 wk. Fifteen women in the exercise (EX) group walked 3 km.d-1 above their daily lifestyle walking, whereas 9 women in the control (CON) group did not change their activity. Walking activity was self-measured with a pedometer in both groups. RESULTS: Resting systolic BP was reduced in the EX group after 12 wk by 6 mm Hg (P < 0.005) and was further reduced by 5 mm Hg at the end of 24 wk (P < 0.005). There was no change in diastolic BP with walking. The CON group experienced no change in BP at either 12 or 24 wk. Body mass was modestly reduced by 1.3 kg in the EX group after 24 wk (P < 0.05); however, it was not correlated with the change in BP. There were no changes in selected variables known to impact BP including percent body fat, fasting plasma insulin, or dietary intake. CONCLUSION: In conclusion, a 24-wk walking program meeting the ACSM-CDC physical activity recommendation is effective in lowering systolic BP in postmenopausal women with borderline to stage 1 hypertension.
Male Amblyomma variegatum ticks feeding on a host release a mixture of o-nitrophenol and methyl salicylate which serves to attract conspecifics. The behavioural responses of A. variegatum on a servosphere to these volatiles presented in an air stream are detailed here. In still air, ticks walked on all eight legs, but with long halts. In contrast, the air stream caused continuous walking and induced a reaching response where the forelegs actively sampled the air. Such reaching increased the angular velocity and reduced walking speed, effects that were amplified in the presence of vapours from o-nitrophenol and methyl salicylate in the air flowing over the ticks. Vapour from a 1:1 mixture of o-nitrophenol and methyl salicylate was attractive over a 10(4)-fold concentration range providing an increase in upwind displacement of 20-40%, significantly higher than the natural ratio where o-nitrophenol vapour predominates. Although the responses to o-nitrophenol vapour were variable when presented alone, this chemical was consistently attractive when delivered with steer hair odour unattractive on its own. Moreover, the upwind walk to this combination did not cause a change in speed or angular velocity. This supports the hypothesis that the response to the pheromone is enhanced by host odour.