Paediatrics

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1024C>T (R342X) is a recurrent RHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family
(Nature Publishing Group, 2004) Lower, K.; Solders, G.; Bondeson, M.; Nelson, J.; Brun, A.; Crawford, J.; Malm, G.; Borjeson, M.; Turner, G.; Partington, M.; Gecz, J.
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1210 Methodological approaches to conceptualizing and modeling the effect of dynamic family structure on child behavior
(Nature Publishing Group, 2010) McDonald, S.; Moodie, E.; Lynch, J.; Satellite Symposia
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14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements
(Nature Publishing Group, 2012) Allou, L.; Lambert, L.; Amsallem, D.; Bieth, E.; Edery, P.; Destree, A.; Rivier, F.; Amor, D.; Thompson, E.; Nicholl, J.; Harbord, M.; Nemos, C.; Saunier, A.; Moustaine, A.; Vigouroux, A.; Jonveaux, P.; Philippe, C.
The Forkhead box G1 (FOXG1) gene has been implicated in severe Rett-like phenotypes. It encodes the Forkhead box protein G1, a winged-helix transcriptional repressor critical for forebrain development. Recently, the core FOXG1 syndrome was defined as postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and dysgenesis of the corpus callosum. We present seven additional patients with a severe Rett-like neurodevelopment disorder associated with de novo FOXG1 point mutations (two cases) or 14q12 deletions (five cases). We expand the mutational spectrum in patients with FOXG1-related encephalopathies and precise the core FOXG1 syndrome phenotype. Dysgenesis of the corpus callosum and dyskinesia are not always present in FOXG1-mutated patients. We believe that the FOXG1 gene should be considered in severely mentally retarded patients (no speech-language) with severe acquired microcephaly (−4 to−6 SD) and few clinical features suggestive of Rett syndrome. Interestingly enough, three 14q12 deletions that do not include the FOXG1 gene are associated with phenotypes very reminiscent to that of FOXG1-mutation-positive patients. We physically mapped a putative long-range FOXG1-regulatory element in a 0.43 Mb DNA segment encompassing the PRKD1 locus. In fibroblast cells, a cis-acting regulatory sequence located more than 0.6 Mb away from FOXG1 acts as a silencer at the transcriptional level. These data are important for clinicians and for molecular biologists involved in the management of patients with severe encephalopathies compatible with a FOXG1-related phenotype.
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17-alpha-hydroxyprogesterone caproate for the prevention of adverse neonatal outcome in multiple pregnancies: A randomized controlled trial
(Lippincott Williams & Wilkins, 2011) Lim, A.; Schuit, E.; Bloemenkamp, K.; Bernardus, R.; Duvekot, J.; Erwich, J.; van Eyck, J.; Groenwold, R.; Hasaart, T.; Hummel, P.; Kars, M.; Kwee, A.; van Oirschot, C.; van Pampus, M.; Papatsonis, D.; Porath, M.; Spaanderman, M.; Willekes, C.; Wilpshaar, J.; Mol, B.; et al.
OBJECTIVE: To estimate whether administration of 17[alpha]-hydroxyprogesterone caproate can prevent neonatal morbidity in multiple pregnancies by reducing the preterm birth rate. METHODS: We conducted a multicenter, double-blind, placebo-controlled randomized trial in 55 obstetric clinics in the Netherlands. Women with a multiple pregnancy were randomized to weekly injections of either 250 mg 17[alpha]-hydroxyprogesterone caproate or placebo, starting between 16 and 20 weeks of gestation and continuing until 36 weeks of gestation. The main outcome measure was adverse neonatal outcome. Secondary outcome measures were gestational age at delivery and delivery before 28, 32, and 37 weeks of gestation. RESULTS: We randomized 671 women. A composite measure of adverse neonatal outcome was present in 110 children (16%) born to mothers in the 17[alpha]-hydroxyprogesterone caproate group, and in 80 children (12%) of mothers in the placebo group (relative risk [RR] 1.34; 95% confidence interval [CI] 0.95–1.89). The mean gestational age at delivery was 35.4 weeks for the 17[alpha]-hydroxyprogesterone caproate group and 35.7 weeks for the placebo group (P=.32). Treatment with 17[alpha]-hydroxyprogesterone caproate did not reduce the delivery rate before 28 weeks (6% in the 17[alpha]-hydroxyprogesterone caproate group compared with 5% in the placebo group, RR 1.04; 95% CI 0.56–1.94), 32 weeks (14% compared with 10%, RR 1.37; 95% CI 0.91–2.05), or 37 weeks of gestation (55% compared with 50%, RR 1.11; 95% CI 0.97–1.28). CONCLUSION: 17[alpha]-hydroxyprogesterone caproate does not prevent neonatal morbidity or preterm birth in multiple pregnancies. CLINICAL TRIAL REGISTRATION: ISRCTN Register, www.isrctn.org, ISRCTN40512715. LEVEL OF EVIDENCE: I
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1D09C3, an mAb specific for MHC-II
(Pharmapress Ltd, 2008) Zola, H.; Beare, A.
GPC Biotech AG is developing 1D09C3, an anti-MHC class II (HLA-DR) fully human IgG4 antibody isolated by MorphoSys AG (from its HuCAL library of human antibodies), for the potential treatment of hematological malignancies. In December 2006, positive safety data from two phase I clinical trials were reported. Final phase I data were expected in mid-2007; however, no additional data have been released at the time of publication.
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236 effect of cyclic adenosine monophosphate modulator regulators in association with bmp15 on bovine embryo development in vitro
(CSIRO, 2015) Machado, M.F.; Nogueira, M.F.; Gilchrist, R.B.; Sutton-McDowall, M.L.; Mottershead, D.G.; White, M.A.; Thompson, J.G.; : Australia)
BMP15 is a promising peptide to improve oocyte competence; also, addition of cyclic adenosine monophosphate modulator (cAMP) regulators prevents spontaneous maturation in vitro and promotes embryo development. We aimed to assess embryo development after prematuration [pre-in vitro maturation (IVM)] with IBMX and Forskolin (FSK) and maturation in the presence or absence of a purified pro mature region of BMP15. Immature cumulus-oocyte complexes (COC) were cultured in vitroMat (IVF Vet Solutions, Adelaide, Australia) plus 4mgmL(-1) fatty acid free-BSA and rhFSH (0.1IUmL(-1)), then divided into the following treatment groups: 1) spontaneous IVM: 24h of IVM; 2) spontaneous IVM+BMP15: 24h of IVM in the presence of BMP15 (100ngmL(-1)); 3) Pre 2 h: pretreatment with IBMX (500µM; Sigma-Aldrich) and FSK (100µM; Sigma-Aldrich) for 2h following 24h maturation; and 4) Pre 2 h+BMP15: pretreatment with IBMX and FSK for 2h following 24h maturation in the presence of BMP15 (100ngmL(-1)). After maturation, oocytes were inseminated and zygotes were cultured for 5 days in VitroCleave (IVF Vet Solutions, Adelaide, Australia) and transferred into VitroBlast (IVF Vet Solutions, Adelaide, Australia) until blastocyst assessment (Days 7 and 8). Zona-intact embryos were retrieved to assess differential staining of trophectoderm and inner cell mass. Data were transformed into a logarithm and analysed by 1-way ANOVA and post hoc least significant difference using SigmaStat software (SPSS Inc., San Jose, CA, USA; P<0.05). There was no difference among groups on cleavage rates or blastocyst rates at Day 7; however, both Pre 2h treatments increase hatched blastocyst rates at Day 8 of embryo development (Table 1). Supplementation with BMP15 increased total blastocyst rates at Day 8, regardless of pretreatment with IBMX+FSK (Table 1). Our data demonstrate that embryos from oocytes matured in the presence of BMP15 or pretreated with IBMX+FSK increase trophectoderm and total cell numbers; however, no differences were observed for inner cell mass. We conclude that Pre 2h treatment or BMP15 increase embryo development; however, no effect of cAMP regulators in association with BMP15 on embryo development was observed.
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25-hydroxyvitamin D concentrations in children with Crohn's disease supplemented with either 2000 or 400 IU daily for 6 months: a randomized controlled study
(Mosby, 2014) Wingate, K.E.; Jacobson, K.; Issenman, R.; Carroll, M.; Barker, C.; Israel, D.; Brill, H.; Weiler, H.; Barr, S.I.; Li, W.; Lyon, M.R.; Green, T.J.
OBJECTIVES: To assess vitamin D status of pediatric patients with Crohn's disease (CD) and to compare their serum 25-hydroxyvitamin D (s-25OHD) with established cutoffs and assess whether 6 months of supplementation with 2000 IU/d, vs 400 IU/d, would reduce the group prevalence of vitamin D below these cutoffs. STUDY DESIGN: Subjects 8-18 years (n = 83) with quiescent CD were randomized to either 400 or 2000 IU vitamin D3/d for 6 months. RESULTS: Baseline mean ± SD s-25OHD was 24 ± 8 ng/mL; 13 subjects (16%) had an s-25OHD <16 ng/mL, 27 (33%) < 20 ng/mL, and 65 (79%) < 30 ng/mL. There was no significant difference between groups in achieving the cutoffs of 16 ng/mL or 20 ng/mL at 6 months; however, only 35% of the 400 IU group achieved the greater cutoff of 30 ng/mL compared with 74% in the 2000 IU group (P < .001). Baseline adjusted mean s-25OHD concentrations at 6 months were 9.6 ng/mL (95% CI 6.0-13.2, P < .001) greater in the 2000 IU than the 400 IU group. Disease activity was not affected by supplement dose. Few subjects exceeded safety marker cutoffs, and this did not differ by dose. CONCLUSIONS: At baseline, a high proportion of patients had a mean s-25OHD >20 ng/mL. 2000 IU vitamin D3/d is more effective in raising s-25OHD concentrations to > 30 ng/mL in children with CD than 400 IU/d, but both treatments were equally effective at achieving 16 or 20 ng/mL.
Open Access
4-aminobutyrate aminotrasferase (ABAT): genetic and pharmacological evidence for an involvement in gastro esophageal reflux disease
(Public Library of Science, 2011) Jirholt, J.; Asling, B.; Hammond, P.; Davidson, G.; Knutsson, M.; Walentinsson, A.; Jensen, J.; Lehmann, A.; Agreus, L.; Lagerstrom-Fermer, M.; Dubé, M.-P.
Gastro-esophageal reflux disease (GERD) is partly caused by genetic factors. The underlying susceptibility genes are currently unknown, with the exception of COL3A1. We used three independent GERD patient cohorts to identify GERD susceptibility genes. Thirty-six families, demonstrating dominant transmission of GERD were subjected to whole genome microsatellite genotyping and linkage analysis. Five linked regions were identified. Two families shared a linked region (LOD 3.9 and 2.0) on chromosome 16. We used two additional independent GERD patient cohorts, one consisting of 219 trios (affected child with parents) and the other an adult GERD case control cohort consisting of 256 cases and 485 controls, to validate individual genes in the linked region through association analysis. Sixty six single nucleotide polymorphism (SNP) markers distributed over the nine genes present in the linked region were genotyped in the independent GERD trio cohort. Transmission disequilibrium test analysis followed by multiple testing adjustments revealed a significant genetic association for one SNP located in an intron of the gene 4-aminobutyrate aminotransferase (ABAT) (Padj = 0.027). This association did not replicate in the adult case-control cohort, possibly due to the differences in ethnicity between the cohorts. Finally, using the selective ABAT inhibitor vigabatrin (c-vinyl GABA) in a dog study, we were able to show a reduction of transient lower esophageal sphincter relaxations (TLESRs) by 57.3611.4 % (p = 0.007) and the reflux events from 3.160.4 to 0.860.4 (p = 0.007). Our results demonstrate the direct involvement of ABAT in pathways affecting lower esophageal sphincter (LES) control and identifies ABAT as a genetic risk factor for GERD.
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4CMenB sustained vaccine effectiveness against invasive meningococcal B disease and gonorrhoea at three years post program implementation
(Elsevier, 2023) Wang, B.; Giles, L.; Andraweera, P.; McMillan, M.; Almond, S.; Beazley, R.; Mitchell, J.; AHoure, M.; Denehy, E.; Flood, L.; Marshall, H.
Abstract not available
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A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technology
(Karger, 2009) Talseth-Palmer, B.; Bowden, N.; Meldrum, C.; Nicholl, J.; Thompson, E.; Friend, K.; Liebelt, J.; Bratkovic, D.; Haan, E.; Yu, S.; Scott, R.
Children with intellectual disability, dysmorphic features, malformations and/or growth abnormalities frequently display normal karyotypes. Recent studies have shown that genome-wide single nucleotide polymorphism (SNP) arrays can be effective in detecting abnormalities involving copy number variation (CNV), deletions, duplications and loss of heterozygosity (LOH) that routine cytogenetic tests fail to identify. Five patients with various degrees of intellectual disability and/or dysmorphic features and other malformations were whole-genome genotyped using the Human-1 Genotyping BeadChip--Exon-Centrix 100K SNP arrays (Illumina). All patients had undergone routine cytogenetic testing; four patients had normal karyotypes, while one patient had an apparently balanced complex translocation involving chromosomes 1q25, 1q32, 2q23, 7q22 and 16q24. We detected deletions on chromosome 1q44 and 13q31.1 in one patient, and LOH of the entire chromosome 2 in another patient, both with cytogenetically normal karyotypes. The patient with the complex translocation had a deletion on chromosome 7q22.2-22.3, which is in conjunction with one of the translocation breakpoints. Our findings provide further evidence of there being a critical region for the development of microcephaly and corpus callosum abnormalities in children with distal 1q deletions. We have also shown that apparently balanced complex translocations might not be balanced at the DNA level, and we report the fourth case of paternal uniparental disomy of chromosome 2. The results of this study suggest that it may be desirable to investigate idiopathic mental retardation using genome-wide SNP arrays, in conjunction with other cytogenetic and molecular techniques.
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A 3-year follow-up of the intellectual and academic functioning of children receiving central nervous system prophylactic chemotherapy for leukemia
(LIPPINCOTT WILLIAMS & WILKINS, 1996) Brown, R.; Sawyer, M.; Antoniou, G.; Toogood, I.; Rice, M.; Thompson, N.; Madan-Swain, A.
This prospective study compared the intellectual and academic functioning of two groups of children treated for cancer over the 3 years after their diagnosis. One group consisted of children who received central nervous system (CNS) prophylactic chemotherapy, and the other group consisted of children with cancer who did not receive CNS chemotherapy. The results suggest that the children who received CNS chemotherapy experienced more adverse effects from their treatment in the area of academic functioning than the children who did not receive CNS chemotherapy. Although there were no differences in the academic functioning of the two groups of children immediately after their diagnosis, 3 years postdiagnosis, the CNS-treated children scored more poorly on academic tests of reading, spelling, and arithmetic than the non-CNS-treated children. The results suggest that CNS chemotherapy prophylaxis may impede academic achievement.
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A bivalent Neisserie meningitidis recombinant lipidated factor H binding protein vaccine in young adults: results of a randomised, controlled, dose-escalation phase 1 trial
(Elsevier Sci Ltd, 2012) Richmond, P.; Nissen, M.; Marshall, H.; Lambert, S.; Roberton, D.; Gruber, W.; Jones, T.; Arora, A.
Neisseria meningitidis is a leading cause of meningitis and septicaemia, but a broadly-protective vaccine against endemic serogroup B disease is not licensed and available. The conserved, outer-membrane lipoprotein factor H binding protein (fHBP, also known as LP2086) is expressed as one of two subfamily variants in virtually all meningococci. This study investigated the safety, tolerability, and immunogenicity of a recombinant-expressed bivalent fHBP (r-fHBP) vaccine in healthy adults. Participants (N=103) aged 18-25 years were recruited into three ascending dose level cohorts of 20, 60, and 200μg of a bivalent r-fHBP vaccine formulation and randomised to receive vaccine or placebo at 0, 1, and 6 months. The vaccine was well tolerated. Geometric mean titres (GMTs) for r-fHBP subfamily-specific IgG antibodies increased 19-168-fold from pre-vaccination to post-dose 2 in a dose level-dependent manner. In addition, robust serum bactericidal assay using human complement (hSBA) responses for strains expressing both homologous and heterologous fHBP variants were observed. After three vaccinations, 16-52% of the placebo group and 47-90%, 75-100%, and 88-100%, of the 20, 60, and 200μg dose levels, respectively, had seroprotective (≥ 1:4) hSBA titres against six serogroup B strains. The bivalent r-fHBP vaccine was well tolerated and induced robust bactericidal activity against six diverse serogroup B strains in young adults at the 60 and 200μg dose levels.
Open Access
A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers
(Oxford University Press, 2018) Zhang, M.; Ferrari, R.; Tartaglia, M.C.; Keith, J.; Surace, E.I.; Wolf, U.; Sato, C.; Grinberg, M.; Liang, Y.; Xi, Z.; Dupont, K.; McGoldrick, P.; Weichert, A.; McKeever, P.M.; Schneider, R.; McCorkindale, M.D.; Manzoni, C.; Rademakers, R.; Graff-Radford, N.R.; Dickson, D.W.; et al.
The G4C2-repeat expansion in C9orf72 is the most common known cause of amyotrophic lateral sclerosis and frontotemporal dementia. The high phenotypic heterogeneity of C9orf72 patients includes a wide range in age of onset, modifiers of which are largely unknown. Age of onset could be influenced by environmental and genetic factors both of which may trigger DNA methylation changes at CpG sites. We tested the hypothesis that age of onset in C9orf72 patients is associated with some common single nucleotide polymorphisms causing a gain or loss of CpG sites and thus resulting in DNA methylation alterations. Combined analyses of epigenetic and genetic data have the advantage of detecting functional variants with reduced likelihood of false negative results due to excessive correction for multiple testing in genome-wide association studies. First, we estimated the association between age of onset in C9orf72 patients (n = 46) and the DNA methylation levels at all 7603 CpG sites available on the 450 k BeadChip that are mapped to common single nucleotide polymorphisms. This was followed by a genetic association study of the discovery (n = 144) and replication (n = 187) C9orf72 cohorts. We found that age of onset was reproducibly associated with polymorphisms within a 124.7 kb linkage disequilibrium block tagged by top-significant variation, rs9357140, and containing two overlapping genes (LOC101929163 and C6orf10). A meta-analysis of all 331 C9orf72 carriers revealed that every A-allele of rs9357140 reduced hazard by 30% (P = 0.0002); and the median age of onset in AA-carriers was 6 years later than GG-carriers. In addition, we investigated a cohort of C9orf72 negative patients (n = 2634) affected by frontotemporal dementia and/or amyotrophic lateral sclerosis; and also found that the AA-genotype of rs9357140 was associated with a later age of onset (adjusted P = 0.007 for recessive model). Phenotype analyses detected significant association only in the largest subgroup of patients with frontotemporal dementia (n = 2142, adjusted P = 0.01 for recessive model). Gene expression studies of frontal cortex tissues from 25 autopsy cases affected by amyotrophic lateral sclerosis revealed that the G-allele of rs9357140 is associated with increased brain expression of LOC101929163 (a non-coding RNA) and HLA-DRB1 (involved in initiating immune responses), while the A-allele is associated with their reduced expression. Our findings suggest that carriers of the rs9357140 GG-genotype (linked to an earlier age of onset) might be more prone to be in a pro-inflammatory state (e.g. by microglia) than AA-carriers. Further, investigating the functional links within the C6orf10/LOC101929163/HLA-DRB1 pathway will be critical to better define age-dependent pathogenesis of frontotemporal dementia and amyotrophic lateral sclerosis.
Open Access
A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS
(BMJ, 2015) Rosmarin, D.; Palles, C.; Pagnamenta, A.; Kaur, K.; Pita, G.; Martin, M.; Domingo, E.; Jones, A.; Howarth, K.; Freeman-Mills, L.; Johnstone, E.; Wang, H.; Love, S.; Scudder, C.; Julier, P.; Fernández-Rozadilla, C.; Ruiz-Ponte, C.; Carracedo, A.; Castellvi-Bel, S.; Castells, A.; et al.
Objective: Capecitabine is an oral 5-fluorouracil (5-FU) pro-drug commonly used to treat colorectal carcinoma and other tumours. About 35% of patients experience dose-limiting toxicity. The few proven genetic biomarkers of 5-FU toxicity are rare variants and polymorphisms, respectively, at candidate loci dihydropyrimidine dehydrogenase (DPYD) and thymidylate synthase (TYMS). Design: We investigated 1456 polymorphisms and rare coding variants near 25 candidate 5-FU pathway genes in 968 UK patients from the QUASAR2 clinical trial. Results: We identified the first common DPYD polymorphisms to be consistently associated with capecitabine toxicity, rs12132152 (toxicity allele frequency (TAF)=0.031, OR=3.83, p=4.31×10−6) and rs12022243 (TAF=0.196, OR=1.69, p=2.55×10−5). rs12132152 was particularly strongly associated with hand-foot syndrome (OR=6.1, p=3.6×10−8). The rs12132152 and rs12022243 associations were independent of each other and of previously reported DPYD toxicity variants. Next-generation sequencing additionally identified rare DPYD variant p.Ala551Thr in one patient with severe toxicity. Using functional predictions and published data, we assigned p.Ala551Thr as causal for toxicity. We found that polymorphism rs2612091, which lies within an intron of ENOSF1, was also associated with capecitabine toxicity (TAF=0.532, OR=1.59, p=5.28×10−6). ENSOF1 is adjacent to TYMS and there is a poorly characterised regulatory interaction between the two genes/proteins. Unexpectedly, rs2612091 fully explained the previously reported associations between capecitabine toxicity and the supposedly functional TYMS variants, 5′VNTR 2R/3R and 3′UTR 6 bp ins-del. rs2612091 genotypes were, moreover, consistently associated with ENOSF1 mRNA levels, but not with TYMS expression. Conclusions: DPYD harbours rare and common capecitabine toxicity variants. The toxicity polymorphism in the TYMS region may actually act through ENOSF1.
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A case series of five Sri Lankan patients with ovotesticular disorder of sex development
(Japanese Society for Pediatric Endocrinology, 2012) Wettasinghe, K.; Sirisena, N.; Andraweera, P.; Jayasekara, R.; Dissanayake, V.
Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation in which the gonads of an individual are characterized by the presence of both mature ovarian and testicular tissues. The objective of this paper is to report the clinical, cytogenetic and histopathological findings in Sri Lankan patients diagnosed with OT-DSD who were referred to the Human Genetics Unit for cytogenetic evaluation during 2005 to 2011. Five patients had histopathologically confirmed OT-DSD. Their ages at presentation ranged from 2 mo to 47 yr. Clinical symptoms varied from ambiguous genitalia and inguinal hernias at birth to a lower abdominal mass presenting in adulthood. All 5 were reared as phenotypic males. An ovotestis was detected in all cases except one, and the predominant karyotype was 46,XY. The findings in this series of predominantly 46,XY karyotype are in contrast to previously published reports that have reported 46,XX as being the predominant karyotype. It is therefore recommended that individuals with ambiguous genitalia who have the 46,XY karyotype should be thoroughly investigated by ultrasonographic or laparoscopic assessment to determine the exact nature of their internal genital organs. OT-DSD should also be considered in the differential diagnosis of patients with cryptorchidism and inguinal hernia.
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A clinical approach to the investigation of suspected vaccine anaphylaxis
(Allergy Society of South Africa, 2012) Gold, M.
Vaccine anaphylaxis is rare, despite the increased incidence of atopic disease and food allergies and an increase in the number of vaccines administered to young children. The mechanism of vaccine anaphylaxis is poorly understood and may be IgE- or non-IgE- mediated. The first step is to assess if the reported symptoms and signs are consistent with anaphylaxis, using the Brighton Collaboration case definition of anaphylaxis. Skin-prick and intradermal testing may support the diagnosis. If vaccine anaphylaxis is diagnosed, re-vaccination with the same vaccine antigens or other vaccines containing the same excipients is contraindicated, but the risk of anaphylaxis to other vaccines is not increased. The measles, mumps, rubella (MMR) and influenza vaccines are safe in egg-allergic children. Influenza vaccination in children with egg anaphylaxis may be given under specialist medical supervision. Misdiagnosis of vaccine anaphylaxis may prevent an individual from receiving vaccinations, possibly resulting in a vaccine-preventable illness. All healthcare providers must report suspected vaccine anaphylaxis and record in detail all symptoms and signs when they occur. Signs and symptoms suggestive of anaphylaxis following vaccination should be managed as anaphylaxis and the vaccinee treated with intramuscular adrenaline.
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A clinically mild case of mucopolysaccharidosis type I - Scheie syndrome (case report)
(Springer-Verlag, 1995) Kozlowski, K.; Nicol, R.; Hopwood, J.
A 5-year-old boy presented with prominent chest, clavicles and scapulae. Restricted movements in his large joints and neck were noted. A skeletal survey showed changes of mild dysostosis multiplex. His mental development was normal. Biochemical studies were consistent with the clinical diagnosis of Scheie syndrome.
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A combined 13CO2/H2 breath test can be used to assess starch digestion and fermentation in humans
(Amer Inst Nutrition, 2004) Symonds, E.; Kritas, S.; Omari, T.; Butler, R.
Ingestion of starch from corn (naturally enriched with (13)C) should produce (13)CO(2) after small intestinal digestion and (13)CO(2) and H(2) from colonic fermentation. This study used a combined (13)CO(2)/H(2) breath test to assess the digestion and fermentation of resistant starch and to show that the test could detect changes in digestibility due to cooking. Volunteers consumed 40 g digestible cornstarch with water (n = 8), or 40 g resistant cornstarch in liquid (n = 12) or cooked into a pancake (n = 4). Interval breath sampling was performed and analyzed for (13)CO(2) and H(2). Ingestion of resistant starch produced a double-peaked (13)CO(2) excretion curve. The first increase in (13)CO(2) occurred at the same time as excretion from digestible starch (55 +/- 9 and 68 +/- 9 min, respectively), which was due to small intestinal digestion. The second increase in (13)CO(2) was accompanied by an increase in H(2) excretion (432 +/- 15 and 428 +/- 48 min, respectively), which was indicative of colonic bacterial fermentation. Cooking resistant starch increased its degree of digestion from 36 to 72%. The (13)CO(2)/H(2) breath test can be used to estimate digestion and fermentation of starches in different physiologic and pathologic conditions.
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A common mitchondrial DNA variant is associated with thinness in mothers and their 20-yr-old offspring
(Amer Physiological Soc, 2005) Parker, E.; Phillips, D.; Cockington, R.; Cull, C.; Poulton, J.
A common mitochondrial (mt)DNA variant that is maternally inherited, the 16189 variant, is associated with type 2 diabetes and thinness at birth. To elucidate the association of the variant with thinness, we studied the 16189 variant in a well-characterized Australian cohort (n = 161) who were followed up from birth to age 20 yr. PCR analysis and mtDNA haplotyping was carried out on DNA from 161 offspring from consecutive, normal, singleton pregnancies followed from birth to age 20 yr. The 16189 mtDNA variant was present in 14 of the 161 20 yr olds (8.7%). Both the mothers with the 16189 variant and their 20-yr-old offspring were thinner than those without. Median (interquartile range) BMI was 21.9 kg/m2 (20.4 to 22.9) in mothers with the variant compared with 23.5 (21.4 to 26.6) in those without (P = 0.013) and 22.2 (21.1 to 23.8) in 20 yr olds with the variant compared with 22.7 (20.8 to 25.6) in those without (P = 0.019). The 16189 variant was also associated with a high placental weight and high placental-to-birth weight ratio (P = 0.051 and P = 0.0024, respectively). Insulin sensitivity was normal in 20 yr olds with the 16189 variant. This contrasts with 20 yr olds who did not have the variant but who had been thin or small at birth and who had normal BMI and normal placental-to-birth weight ratio, but were insulin resistant. This study suggests that the 16189 mtDNA variant is associated with maternally inherited thinness in young adults. This may be mediated by effects on mtDNA replication and, thence, placental function. Further research is required to confirm these hypotheses.
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A comparison of booster immunisation with a combination DTPa-IPV vaccine or DTPa plus IPV in separate injections when co-administered with MMR, at age 4-6 years
(Elsevier Sci Ltd, 2006) Marshall, H.; Nolan, T.; Roberton, D.; Richmond, P.; Lambert, S.; Jacquet, J.; Schuerman, L.
This study evaluated GSK's combined DTPa-IPV vaccine (Infanrix-IPV) given as a fifth consecutive acellular pertussis booster dose in conjunction with the second dose of MMR vaccine (Priorix) in children aged 4-6 years. The immunogenicity and reactogenicity of this vaccine regimen was compared with separate injections of DTPa and IPV when given concomitantly with MMR. A cohort of 362 children previously primed with four doses of DTPa and OPV, and a single dose of MMR were randomized to receive either DTPa-IPV+MMR (N=181) or DTPa+IPV+MMR (N=181). Antibody concentrations were measured prior to and 1 month after the booster dose. After immunisation all subjects from both groups had seroprotective antibody levels against diphtheria, tetanus and the three poliovirus serotypes, > or = 96% showed vaccine response to PT, FHA and PRN, all were seropositive to mumps and rubella, and all but one subject were seropositive to measles. Immunogenicity results for each component antigen were similar for DTPa-IPV and separately co-administered DTPa and IPV. Local reactions were common with 24.0% and 31.1% of children experiencing swelling >50mm at the DTPa-IPV and DTPa injection sites, respectively. The DTPa-IPV combination did not increase the incidence or intensity of adverse events compared with separately administered DTPa+IPV. The response to the concomitantly administered MMR vaccine was similar in the two groups and similar to previously reported responses for a second dose of MMR. This combined DTPa-IPV vaccine has a similar reactogenicity profile to DTPa, is immunogenic when given as a booster dose at 4-6 years of age, and has no impact on the immunogenicity of a co-administered second dose of MMR vaccine.

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