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1.  Neonatal treatment of CINCA syndrome 
Chronic Infantile Neurological Cutaneous Articular (CINCA) syndrome, also called Neonatal Onset Multisystem Inflammatory Disease (NOMID) is a chronic disease with early onset affecting mainly the central nervous system, bones and joints and may lead to permanent damage. We report two preterm infants with severe CINCA syndrome treated by anti-interleukin-1 in the neonatal period, although, so far, no experience with this treatment in infants younger than three months of age has been reported. A review of the literature was performed with focus on treatment and neonatal features of CINCA syndrome.
Case report
Two cases suspected to have CINCA syndrome were put on treatment with anakinra in the early neonatal period due to severe clinical presentation. We observed a rapid and persistent decline of clinical signs and systemic inflammation and good drug tolerance. Diagnosis was confirmed in both cases by mutations in the NLRP3/CIAS1-gene coding for cryopyrin. As particular neonatal clinical signs polyhydramnios and endocardial overgrowth are to be mentioned.
We strongly suggest that specific treatment targeting interleukin-1 activity should be started early. Being well tolerated, it can be introduced already in neonates presenting clinical signs of severe CINCA syndrome in order to rapidly control inflammation and to prevent life-long disability.
PMCID: PMC4290099  PMID: 25584041
CINCA; NOMID; Neonatal treatment; Anakinra; IL-1 receptor; IL-1β
2.  Intestinal Spirochetosis mimicking inflammatory bowel disease in children 
BMC Pediatrics  2012;12:163.
Intestinal spirochetosis is an unusual infection in children and its clinical significance in humans is uncertain. The presence of these microorganisms in humans is well-known since the late 1800’s and was first described in 1967 by Harland and Lee by electron microscopy.
Case presentation
This article reports the findings of one pediatric case, review of the current literature, and an overview of therapeutic options.
A high degree of suspicion is required in cases presenting with abdominal pain, chronic diarrhoea and/or hematochezia associated with a normal endoscopic examination, thus emphasizing the importance of multiple biopsies throughout the colon.
PMCID: PMC3480841  PMID: 23066991
Intestinal spirochetosis; Brachyspira aalborgi; Brachyspira pilosicoli; Inflammatory bowel disease
3.  Fever of unknown origin in a Swiss-born child: don't miss tuberculosis! 
Clinics and Practice  2012;2(2):e36.
Tuberculosis incidence is low in Switzer land. We report here on a Swiss-born toddler. Tuberculosis manifested with a fever of unknown origin, mimicking an inflammatory or autoimmune disorder triggering a high dose of corticosteroid treatment. The disease went unrecognized for several weeks until development of a miliary tuberculosis with advanced central nervous system involvement. This case highlights the difficulties encountered in diagnosing tuberculosis and in identifying the origin of this case. It reminds us that this disease must never be forgotten when facing a child with persistent fever who must be screened for, before starting immunosuppressive therapy.
PMCID: PMC3981286  PMID: 24765435
fever; Swiss; tuberculosis.
4.  Mycoplasma hominis necrotizing pleuropneumonia in a previously healthy adolescent 
BMC Infectious Diseases  2010;10:335.
Mycoplasma hominis is a fastidious micro-organism causing systemic infections in the neonate and genital infections in the adult. It can also be the cause of serious extra-genital infections, mainly in immunosuppressed or predisposed subjects.
Case Presentation
We describe a case of severe pneumonia and pericarditis due to Mycoplasma hominis in a previously healthy adolescent who did not respond to initial therapy.
Mycoplasma hominis could be an underestimated cause of severe pneumonia in immunocompetent patients and should be particularly suspected in those not responding to standard therapy.
PMCID: PMC3006422  PMID: 21106079
5.  Parachlamydia and Rhabdochlamydia in Premature Neonates 
Emerging Infectious Diseases  2009;15(12):2072-2075.
PMCID: PMC3044521  PMID: 19961711
Parachlamydia; Rhabdochlamydia; PCR; bacteria; amebae; respiratory secretions; neonates; letter
6.  Early Appearance of Bactericidal Antibodies after Polysaccharide Challenge of Toddlers Primed with a Group C Meningococcal Conjugate Vaccine: What Is Its Role in the Maintenance of Protection? 
Clinical and Vaccine Immunology  2006;13(8):854-861.
The contribution of memory responses after meningococcal vaccination to protection may depend on the rapidity of the response. Toddlers were challenged with a licensed polysaccharide (PS) vaccine 1 year after vaccination with a single dose of meningococcal group C-CRM197 conjugate (MCC) vaccine at the age of 12 to 15 months. Bactericidal antibodies and immunoglobulin G (IgG) antibodies detected by an enzyme-linked immunosorbent assay (ELISA) were measured before challenge and 4, 7, 14, or 21 Days later (“Days” refer to treatment groups, “days” to sampling days). Among 281 subjects in the intent-to-treat population, 173 per-protocol (PP) subjects were challenged with 10 μg PS antigen and 103 others with a 50-μg PS vaccinating dose. Capsular PS-specific ELISA IgG titers were negligible in baseline samples and increased only twofold within 4 days of PS administration. In contrast, the proportion of PP subjects with serum bactericidal antibody (SBA) titers of ≥1:8 or ≥1:128 increased, respectively, from 41% and 16% before challenge to 84% and 74% at Day 4 and to 100% and 97% at Day 7. Recipients of 50 μg PS responded with similar kinetics but showed a trend toward higher antibody levels. Unexpectedly, 69% of subjects bled on days 2 to 3 already had achieved SBA titers of ≥1:8. The majority of toddlers previously immunized with MCC and challenged 1 year later with PS antigen mounted protective levels of bactericidal antibody within 2 to 4 days.
PMCID: PMC1539109  PMID: 16893984

Results 1-6 (6)