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We present a 13-year-old patient with persistent increase of serum Creatine Kinase (CK) and myalgia after exertion. Skeletal muscle biopsy showed marked reduction of dystrophin expression leading to genetic analysis of DMDgene by MLPA, which detected a single deletion of exon 78. To the best of our knowledge, DMDexon 78 deletion has never been described in literature and, according to prediction, it should lead to loss of reading frame in the dystrophin gene. To further assess the actual effect of exon 78 deletion, we analysed cDNA from muscle mRNA. This analysis confirmed the absence of 32 bp of exon 78. Exclusion of exon 78 changes the open reading frame of exon 79 and generate a downstream stop codon, producing a dystrophin protein of 3703 amino acids instead of 3685 amino acids. Albeit loss of reading frame usually leads to protein degradation and severe phenotype, in this case, we demonstrated that deletion of DMD exon 78 can be associated with a functional protein able to bind DGC complex and a very mild phenotype. This study adds a novel deletion in DMDgene in human and helps to define the compliance between maintaining/disrupting the reading frame and clinical form of the disease.

Listeria monocytogenesis a facultative anerobic, gram-positive bacillus that is isolated from the soil, vegetables, and wild or domestic animals. Listeria infection is usually found in the older adults, immunocompromised patients, pregnant women, and newborns, whereas it is rare in healthy infants and children. Listeria monocytogenesmay cause meningitis, meningoencephalitis, brain abscess, pyogenic arthritis, osteomyelitis, and liver abscess in children. The course of meningoencephalitis by Listeriais often severe and even fatal. Complications such as acute hydrocephalus, brain abscess, and spine abscess can develop, and the mortality associated with listeriosis is significantly high. We present a case of a previously healthy 7-year-old boy who developed Listeria monocytogenesmeningitis.

The emergence of serotypes not included in 7-valent pneumococcal conjugate vaccine (PCV7), so-called “replacement”, could erode the great advantage offered by vaccination. The effect of the replacement phenomena is very variable in different Countries and depends on one or more of several factors i.e. serotype before PCV7 implementation, PCV7 coverage, period from PCV implementation, vaccination schedule, antibiotic use, etc. The long-term epidemiological picture in Europe regarding serotype change is limited because of the relatively recent introduction of PCV7 - the majority of European Countries have only experienced PCV implementation since 2006 - and the difficulty in reaching very high vaccination coverage. In May 2003, a large-scale program of vaccination against Streptococcus pneumoniae with PCV7 was started in Liguria achieving coverage higher than 90%. The results of this program anticipate the results likely to be achieved when high coverage has been reached in Europe for a period of several years. The project included the immunogenicity evaluation of the co-administration of PCV7 and exavalent vaccine using the 3-5-11 month schedule, effectiveness evaluation and the active and passive surveillance system of invasive pneumococcal disease (IPD) and non-IPD. Since the beginning of PCV7 implementation, the proportion of PCV7 serotype has declined and in 2009-10 it accounted for about 10% of all Streptocuccus pn responsible for IPD and non-IPD. The new 13-valent pneumococcal conjugate vaccine, available since July 2010, will offer a significant added benefit covering about 90%, 100% of IPD and more than 40% and 60% of non-IPD detected in pre-school and school children, respectively, after PCV7 introduction.

We present a case of a 4-month-old girl referred to the emergency department with a provisional diagnosis of acute life-threatening event with a recent episode of heart block and a history of long-lasting fever. Soon after admission, the child suddenly deteriorated rapidly; she became pulseless with complete heart block and died despite intensive resuscitation efforts. Postmortem examination showed coronary arteritis with aneurysmal dilatation and coronary thrombosis, revealing atypical Kawasaki disease. With this case presentation, we discuss the importance of early recognition and treatment of atypical and/or incomplete forms of Kawasaki disease, which are most common in young infants and may lead, if untreated, to coronary artery abnormalities with a potential for myocardial infarctions, aneurysm formation, and sudden death. In addition, the relevance of postmortem examination in a case of sudden and undiagnosed infant death is underlined.