Clostridium baratii bacteremia associated with Kawasaki syndrome. First case report

We experienced a case of a 3-year-old boy who presented signs and symptoms of Kawasaki syndrome. Two blood culture sets were processed by the hospital microbiology laboratory using a standard blood culturing system. The anaerobic bottles gave a positive result at day 3 after inoculation. The biochemical profiles produced by the RapID ANA II System showed that the organism was Clostridium baratii with a probability of 99%. Our case highlights the importance of C. baratii as a potential human pathogen and reports the associations with manifestations, which, to our knowledge, have not been previously described concomitantly with a clostridial infection

Description, Nomenclature, and Mapping of a Novel Cerebello-Renal Syndrome with the Molar Tooth Malformation

Cerebello-oculo-renal syndromes (CORSs) and Joubert syndrome (JS) are clinically and genetically heterogeneous autosomal recessive syndromes that share a complex neuroradiological malformation resembling a molar tooth on brain axial images, a condition referred to as “molar tooth on imaging” (MTI) or the “molar tooth sign.” The current literature on these syndromes is complex, with overlapping and incomplete phenotypes that complicate the selection of clinically homogeneous cases for genetic purposes. So far, only one locus (JBTS1 on 9q34) has been mapped, in two families with JS. Here, we describe a large consanguineous family with JS and nephronophthisis, representing a novel cerebello-renal phenotype. We have mapped this condition to the pericentromeric region of chromosome 11 and have named the locus “CORS2.” The acronym “CORS” is proposed for all loci associated with JS, CORSs, and related phenotypes sharing the MTI, because this neuroradiological sign seems to be the unifying feature of these clinically heterogeneous syndromes

Early identification of cardiovascular involvement in patients with β-thalassemia major

The aim of the present study was to evaluate left ventricular myocardial deformation and carotid arterial stiffness using 2-dimensional strain and echo-tracking in patients with asymptomatic β-thalassemia major (β-TM) without significant myocardial iron overload to determine whether early subclinical cardiovascular abnormalities would be detectable. We enrolled 32 patients with β-TM (23 women, mean age 35 ± 8 years) and 33 healthy volunteers (20 women, mean age 35 ± 6 years). All subjects underwent echocardiography with 2-dimensional strain analysis (XStrain) and ultrasonography of the carotid arteries with measurement of the stiffness parameters (ProSound Alpha 10). Cardiac magnetic resonance imaging using a T2* algorithm (37.7 ± 5.6 ms) for the assessment of myocardial iron overload was performed in each patient. The clinical and standard echocardiographic parameters were comparable between the patients and healthy subjects. The global left ventricular longitudinal strain was significantly impaired in the patients compared with the controls (-17.9 ± 3.5% vs -24.3 ± 3.4%, p = 0.002), although the radial and circumferential strain values were similar between the 2 groups (p = NS for both). The carotid intima-media thickness was comparable between the patients and healthy subjects (0.67 ± 0.20 mm vs 0.66 ± 0.15 mm, p = NS). In contrast, the arterial stiffness was significantly increased in the patients compared with the controls (stiffness index 6.16 ± 1.31 vs 4.65 ± 0.82,

Clinical significance of NOD2/CARD15 and Toll-like receptor 4 gene single nucleotide polymorphisms in inflammatory bowel disease

AIM: To evaluate the role of genetic factors in the pathogenesis of Crohn’s disease (CD) and ulcerative colitis (UC), we investigated the single nucleotide polymorphisms (SNPs) of NOD2/CARD15 (R702W, G908R and L1007finsC), and Toll-like receptor 4 (TLR4) genes (D299G and T399I) in a selected inflammatory bowel disease (IBD) population coming from Southern Italy

© 2008 The WJG Press. All rights reserved.

doi:10.3748/wjg.14.445

Age and sex prevalence estimate of Joubert syndrome in Italy

ObjectiveTo estimate the prevalence of Joubert syndrome (JS) in Italy applying standards of descriptive epidemiology and to provide a molecular characterization of the described patient cohort.MethodsWe enrolled all patients with a neuroradiologically confirmed diagnosis of JS who resided in Italy in 2018 and calculated age and sex prevalence, assuming a Poisson distribution. We also investigated the correlation between proband chronological age and age at diagnosis and performed next-generation sequencing (NGS) analysis on probands' DNA when available.ResultsWe identified 284 patients with JS: the overall, female- and male-specific population-based prevalence rates were 0.47 (95% confidence interval [CI] 0.41-0.53), 0.41 (95% CI 0.32-0.49), and 0.53 (95% CI 0.45-0.61) per 100,000 population, respectively. When we considered only patients in the age range from 0 to 19 years, the corresponding population-based prevalence rates rose to 1.7 (95% CI 1.49-1.97), 1.62 (95% CI 1.31-1.99), and 1.80 (95% CI 1.49-2.18) per 100,000 population. NGS analysis allowed identifying the genetic cause in 131 of 219 screened probands. Age at diagnosis was available for 223 probands, with a mean of 6.67 8.10 years, and showed a statistically significant linear relationship with chronological age (r(2) = 0.79; p < 0.001).ConclusionsWe estimated for the first time the age and sex prevalence of JS in Italy and investigated the patients' genetic profile. The obtained population-based prevalence rate was 10 times higher than that available in literature for children population

Age and sex prevalence estimate of Joubert syndrome in Italy.

Objective: To estimate the prevalence of Joubert syndrome (JS) in Italy applying standards of descriptive epidemiology and to provide a molecular characterization of the described patient cohort. Methods: We enrolled all patients with a neuroradiologically confirmed diagnosis of JS who resided in Italy in 2018 and calculated age and sex prevalence, assuming a Poisson distribution. We also investigated the correlation between proband chronological age and age at diagnosis and performed next-generation sequencing (NGS) analysis on probands' DNA when available. Results: We identified 284 patients with JS: the overall, female- and male-specific population-based prevalence rates were 0.47 (95% confidence interval [CI] 0.41-0.53), 0.41 (95% CI 0.32-0.49), and 0.53 (95% CI 0.45-0.61) per 100,000 population, respectively. When we considered only patients in the age range from 0 to 19 years, the corresponding population-based prevalence rates rose to 1.7 (95% CI 1.49-1.97), 1.62 (95% CI 1.31-1.99), and 1.80 (95% CI 1.49-2.18) per 100,000 population. NGS analysis allowed identifying the genetic cause in 131 of 219 screened probands. Age at diagnosis was available for 223 probands, with a mean of 6.67 \ub1 8.10 years, and showed a statistically significant linear relationship with chronological age (r 2 = 0.79; p < 0.001). Conclusions: We estimated for the first time the age and sex prevalence of JS in Italy and investigated the patients' genetic profile. The obtained population-based prevalence rate was 4810 times higher than that available in literature for children population