An 800 kb deletion at 17q23.2 including the MED13 (THRAP1) gene, revealed by aCGH in a patient with a SMC 17p.

We report on clinical and cytogenetic studies in a 7-year-old child with moderate intellectual disability, short stature, mild dysmorphism, and hearing loss. R-chromosome banding showed a de novo autosomal marker originating from the 17p chromosome segment in all cells analyzed. Array comparative genome hybridization (aCGH) was used to determine the gene content and proximal and distal breakpoints of the small supernumerary marker chromosome (SMC). These breakpoints mapped to the centromere of chromosome 17 and the 17p11.2 region, respectively. Unexpectedly, aCGH analysis also revealed a de novo deletion of 800 kb encompassing six genes in the 17q23.2 region, including MED13 (also known as THRAP1). We compared our patient with other reported cases of SMC(17), to determine the respective contributions of the duplication and the deletion to the phenotype. We cannot entirely exclude a minor role for the SMC(17), but we suggest that MED13 haploinsufficiency was responsible for the phenotype of the patient particularly the cataract, hearing loss and semicircular canal dysplasia. Moreover, this report highlights the usefulness of aCGH for the specification of gene content in cases of abnormality, facilitating the establishment of accurate phenotype-genotype correlations and the detection of other, complex rearrangements.

A liquid hexavalent combined vaccine against diphtheria, tetanus, pertussis, poliomyelitis, Haemophilus influenzae type B and hepatitis B: review of immunogenicity and safety.

To reduce the number of injections needed to comply with paediatric vaccination requirements, a liquid, hexavalent vaccine (DTaP-IPV-PRP-T-HBs; Hexavac; Aventis Pasteur MSD) has been developed for primary and booster vaccination of infants and toddlers. In extensive clinical studies, Hexavac has been shown to be highly immunogenic. Seroconversion or seroprotective titres of antibodies against all antigens were achieved in the majority of infants following a primary series of three doses administered at 1-2-month intervals from 2 months of age. Hexavac also induced immunologic memory, as evidenced by the anamnestic response to booster vaccination at 12-18 months of age. These responses were comparable with those seen following concomitant administration of Pentavac (DTaP-IPV//PRP-T) and monovalent hepatitis B vaccine (H-B-Vax II), and were also within the ranges observed for other relevant licensed vaccines. Clinical studies comparing the immunogenicity of Hexavac administered at either 2, 3 and 4 months or 2, 4 and 6 months demonstrated that it can be used by either vaccination schedule. A further study also supported the use of primary doses of Hexavac at 3 and 5 months with a booster at 12 months of age. Hexavac demonstrated a good reactogenicity and tolerability profile. The most frequently reported adverse events after both primary and booster doses were local reactions of redness and swelling/induration and a systemic response of mild fever, irrespective of the vaccine used for priming. Hexavac provided immunity against six important childhood diseases with a single injection at each visit.

Persistence of antibodies at 5-6 years of age for children who had received a primary series vaccination with a pentavalent whole-cell pertussis vaccine and a first booster with a pentavalent acellular pertussis vaccine: immunogenicity and tolerance of second booster with a tetravalent acellular vaccine at 5-6 years of age.

UNLABELLED: The main objective of this study was to assess in 5-6-year-old French children (n=162) the persistence of antibodies induced by a primary series vaccination (at 2-4 months of age) with a pentavalent whole-cell pertussis combined vaccine (DTwcP-IPV-Hib; Pentacoq) and a first booster (at 12-16 months of age) with a pentavalent two-component acellular pertussis combined vaccine (DTacP-IPV-Hib; Pentavac). The second objective was to evaluate in these 5-6-year-old French children the safety and the immunogenicity of a tetravalent pertussis combined vaccine (DTacP-IPV, Tetravac) given as a second booster. RESULTS: before the 2nd booster, more than 90% of children had antibody titers above the defined threshold for polyribosyl ribitol phosphate (PRP), tetanus, diphtheria and poliomyelitis; antibody titers were very low for pertussis. One month after the second booster, all children had sero-protective post-booster titers for tetanus, diphtheria and poliomyelitis types 1-3; over 90% of children had a four-fold rise in titers against DTacP-IPV antigens. Adverse events were mostly solicited reactions, with no serious adverse event. A strong anamnestic response was also observed after the second booster injection with Tetravac, with a satisfactory safety profile. CONCLUSION: Pentavac and Tetravac (acellular pertussis containing vaccines) may thus be administered as first and second boosters respectively, in children primed with Pentacoq (whole-cell pertussis containing vaccine).

Antibody persistence against diphtheria, tetanus, pertussis, poliomyelitis and Haemophilus influenzae type b (Hib) in 5-6-year-old children after primary vaccination and first booster with a pentavalent combined acellular pertussis vaccine: immunogenicity and tolerance of a tetravalent combined acellular pertussis vaccine given as a second booster.

UNLABELLED: The main objective of this study was to assess in 5-6-year-old French children (n=234) the persistence of antibodies induced by a primary series vaccination (at 2-4 months of age) and a first booster (at 12-16 months of age) with a pentavalent two-component acellular pertussis combined vaccine (DTacP-IPV-Hib; Pentavac). The second objective was to evaluate in these 5-6-year-old French children the safety and the immunogenicity of a tetravalent acellular pertussis combined vaccine (DTacP-IPV; Tetravac) given as second booster. RESULTS: Seroprotective antibody levels against diphtheria, tetanus, types 1-3 poliomyelitis and PRP were maintained 4-5 years after primary-vaccination and first booster with Pentavac. As expected, anti-PT antibodies levels were low, suggesting that children were not colonised by Bordetella pertussis. The second booster with Tetravac was well tolerated and elicited a strong booster response for all antigens. CONCLUSION: acellular pertussis combined vaccine, used in primary-vaccination, could be considered as having the same priming effect and the same efficacy as whole cell pertussis vaccine.