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Futuna is a small Polynesian island in the South Pacific with a population of 3,612 in 2013. The first human leptospirosis case was confirmed in 1997. Active surveillance started in 2004. Cases were confirmed by PCR or real time PCR, or by serology using MAT or a combination of IgM-ELISA and MAT. A retrospective analysis of surveillance data shows that the disease was endemic with a mean annual incidence of 844 cases per 100,000 over an 11-year period from 2004 to 2014. An epidemic peak as high as 1,945 cases per 100,000 occurred in 2008. Serogroup Australis was predominant until 2007, Icterohaemorrhagiae was dominant afterwards. Cluster analysis revealed different hot spots over time. Lifestyle habits, such as walking barefoot in irrigated taro fields or pig pens probably contributed to contamination from the swine and rodent reservoirs to humans. Severe forms were rare, and the case fatality rate was 0.5%. The medical community and general population were aware of leptospirosis and rapid treatment with amoxycillin was the main treatment, probably contributing to this low fatality rate.

Objectives: Monitoring acute bacterial meningitis in northern Cameroon. Methods: Health professionals collected cerebrospinal fluid (CSF) specimens from patients presenting with clinical symptoms of meningitis. Specimens were tested using gram stain, latex agglutination test, and culture. A PCR assay completed the diagnostic testing. Multilocus sequence typing (MLST) was performed on some Neisseria meningitidis (Nm) isolates. isolates presented the sequence-type ST-2881 usually associated with sporadic cases. Since 2009, the ST-11 (an epidemic-associated clone) became predominant, although no epidemic occurred. Serogroup A ST-7 was observed in 2010 and caused a localized epidemic. Using the detection PCR on turbid CSF, a 2.7-fold increase in cases with etiologic diagnosis was obtained, compared to culture. All tested meningococcal isolates (42) were susceptible to ampicillin, chloramphenicol, and cefotaxim. Conclusions: Resurgence of serogroup A and recent increase in ST-11 among serogroup W135 isolates were worrying when considered with the epidemic wave of serogroup A meningitis, which affected neighboring countries and the serogroup W135 epidemic in Niger in 2009-2010.

Ductal plate malformations (DPM) present with a wide phenotypic spectrum comprising Von Meyenburg complexes (VMC), Caroli disease (CD), Caroli syndrome (CS), and autosomal recessive polycystic kidney disease (ARPKD). Variants in PKHD1 are responsible for ARPKD and CS with a high inter- and intra-familial phenotypic variability. Rare familial cases of CD had been reported and exceptional cases of CD are associated with PKHD1 variants. In a family of three siblings presenting with a wide spectrum of severity of DPM, we performed whole exome sequencing and identified two PKHD1 compound heterozygous variants (c.10444G>A; p.Arg3482Cys and c.5521C>T; p.Glu1841Lys), segregating with the symptoms. Two compound heterozygous PKHD1 variants, including one hypomorphic variant, were identified in two other familial cases of DPM with at least one patient presenting with CD. This report widens the phenotypic variability of PKHD1 variants to VMC, and others hepatic bile ducts malformations with inconstant renal phenotype in adults and highlights the important intra-familial phenotypic variability. It also showed that PKHD1 might be a major gene for CD. This work adds an example of the contribution of exome sequencing, not only in the discovery of new genes but also in expanding the phenotypic spectrum of well-known disease-associated genes, using reverse phenotyping.