Pertussis Resurgence Associated with Pertactin-Deficient and Genetically Divergent Bordetella Pertussis Isolates in Israel.

The Bordetella pertussis polymerase chain reaction positivity rate changed after additional diphtheria-tetanus-acellular pertussis boosters in 2005 and 2008, 9.8%, 13.4%, 22% and 15.2% in 2010, 2011, 2012 and 2013, P < 0.001, respectively. New pulsed-field gel electrophoresis profiles were detected between 2009 and 2012. The proportion of pertactin-deficient isolates increased over time, 6.6% versus 7.1% versus 33.3% during 2005-2006, 2011-2012 and 2013-2014, P < 0.03, respectively.

Mycobacterium phocaicum bacteremia: an emerging infection in pediatric hematology-oncology patients.

Nontuberculous mycobacteria may cause central venous catheter-associated bacteremia. Between March 2011 and October 2013, 6 cases of Mycobacterium phocaicum bacteremia were found in the pediatric hematology-oncology department. All patients recovered. No positive blood culture was documented after removal of the central venous catheter. All 4 patients with pulsed field gel electrophoresis had the same pattern, different from the water sample, suggesting a common water source.

Two closely related strains associated with pertussis resurgence in Israel.

Eighty-two isolates of Bordetella pertussis analyzed by pulsed-field gel electrophoresis from the epidemic years, 2007 to 2008, revealed 4 strains with 2 closely related isolates accounting for 95% of the circulating strains. The most common Israeli strain has the same pulsed-field gel electrophoresis cluster as the dominant European BpSR11 strain (pulsed-field gel electrophoresis cluster IVß) identified in the 1999 to 2004 EU Pertstrain II project.

Contamination of peripheral hematopoeitic stem cell products with a Mycobacterium mucogenicum-related pathogen.

A gram-positive rod with a restriction pattern closely related to the published nucleotide sequence of Mycobacterium mucogenicum was isolated from 6 of 45 units of peripheral blood stem cell products. The source of the contamination was traced to ice cubes used in processing the peripheral blood stem cell products. Substituting reusable ice trays for ice from an ice machine terminated the outbreak.

A novel case of a CAT to AAT transversion in codon 179 of the p53 gene in a supratentorial primitive neuroectodermal tumor harbored by a young girl. Case report and review of the literature.

BACKGROUND: The most common cytogenetic abnormality encountered in primitive neuroectodermal tumors (PNET)/medulloblastoma is loss of heterozygosity in the region of the short arm of chromosome 17. There is some evidence that supratentorial PNET has different cytogenetic markers than infratentorial PNET/medulloblastoma. Particularly, loss of 17p is more frequent in the latter than in the former. We describe a young girl diagnosed with supratentorial PNET (SPNET). Analysis of the tumor suppressor gene p53 in the tumorous tissue revealed a rare transversion mutational event of CAT to AAT in position 179 of exon 5. To the best of our knowledge, this is the first case of such a transversion at codon 179 in the p53 gene in SPNET. CASE REPORT: A 12-year-old girl was admitted with nausea, headache and vision disturbances. MRI of the brain showed a large space- occupying lesion in the right frontal lobe. Histological examination of the macroscopic resection of the tumor revealed PNET of the brain. Polymerase chain reaction-single strand conformation polymorphism analysis of all p53 exons was performed, and a unique variant of a transversion at codon 179 of exon 5 was revealed. Therapy was started according to the Children's Cancer group protocol (CCG-99702) designated for treatment of high-risk central nervous system embryonal tumors. She received an initial course of chemotherapy, consisting of cyclophosphamide and vincristine for mobilizing and harvesting peripheral blood stem cells (PBSCs). Then she was given craniospinal irradiation (3,600 cGy) with a boost to the tumor bed (1,980 cGy) and three consecutive courses of high-dose chemotherapy with carboplatin, vincristine and thiotepa/cyclophosphamide, with PBSCs support after each course. RESULTS: The patient is in complete remission 17 months after diagnosis, based on the results of physical examination and imaging studies. DISCUSSION: The mutation results in an alteration of the amino acid HIS to ASN. The amino acids surrounding position 175 play an important role in stabilizing the p53/DNA complex. There are only 12 known mutations of the reported type, and the finding of such a rare mutational event in a low-incidence p53 mutation tumor, such as SPNET, might add additional insight into the p53-SPNET relationship in tumorigenesis. Although not widely accepted, it is possible that different mutations of the p53 gene in patients with brain tumors may imply a different ultimate prognosis. In our case, we cannot exclude the fact that transversion of CAT to AAT in position 179 of exon 5 may explain prolonged survival of a patient with good response to therapy.

Maternal mosaicism for a second mutational event--a novel deletion--in a familial adenomatous polyposis family harboring a new germ-line mutation in the alternatively spliced-exon 9 region of APC.

Familial Adenomatous Polyposis (FAP) is an autosomal dominant heritable disorder caused by germ-line mutations in the APC gene. To date, more than 300 germ-line mutations within this gene have been described. Using PCR, SSCP and DNA sequencing, we have identified a new mutation in the alternatively spliced region of exon 9 (1042C-->T), which results in a stop signal. This mutation manifested an aggressive form of FAP with onset of symptoms in one proband at age 17. Our results differ from reported exon 9 mutations in the spliced-out portion of the gene manifesting an attentuated form of FAP (AAPC) [Varesco et al 1994; van der Luijt et al. 1995; Curia et al. 1998; Young et al. 1998]. When analyzing this family, we encountered a mutant FAP gene which had undergone a second mutational event, a deletion. In addition to linkage analysis, both the occurrence of the two exon 9 mutation-carrier siblings, of which one is affected, harboring the same novel deletion in one generation of this family, and its absence in both parents indicates the existence of maternal germ-line mosaicism for cells bearing the latter second mutational event. Our study is only the second report of parental mosaicism in the APC gene.