Nail-Patella Syndrome Associated with Short Stature: A Case Series

Introduction. Nail-patella syndrome (NPS) is a rare genetic disorder that is characterized by a pleiotropic malformation affecting the nail, the skeleton, and occasionally the central nervous system and the kidneys. Case Presentation. We report two paediatric cases, which are of two sisters, who aged, respectively, two and five years. They are admitted to explore short stature. The initial clinical examination and radiologic findings confirmed the diagnosis of Nail-patella syndrome. Conclusion. Skeletal, ophthalmologic, and renal involvements were mostly associated with NPS. The association with short stature was exceptional

Cosavirus, Salivirus and Bufavirus in Diarrheal Tunisian Infants

International audienceThree newly discovered viruses have been recently described in diarrheal patients: Cosa-virus (CosV) and Salivirus (SalV), two picornaviruses, and Bufavirus (BuV), a parvovirus. The detection rate and the role of these viruses remain to be established in acute gastroen-teritis (AGE) in diarrheal Tunisian infants. From October 2010 through March 2012, stool samples were collected from 203 children <5 years-old suffering from AGE and attending the Children's Hospital in Monastir, Tunisia. All samples were screened for CosV, SalV and BuV as well as for norovirus (NoV) and group A rotavirus (RVA) by molecular biology. Positive samples for the three screened viruses were also tested for astrovirus, sapovirus, ade-novirus, and Aichi virus, then genotyped when technically feasible. During the study period, 11 (5.4%) samples were positive for one of the three investigated viruses: 2 (1.0%) CosV-A10, 7 (3.5%) SalV-A1 and 2 (1.0%) BuV-1, whereas 71 (35.0%) children were infected with NoV and 50 (24.6%) with RVA. No mixed infections involving the three viruses were found, but multiple infections with up to 4 classic enteric viruses were found in all cases. Although these viruses are suspected to be responsible for AGE in children, our data showed that this association was uncertain since all infected children also presented infections with several enteric viruses, suggesting here potential water-borne transmission. Therefore, further studies with large cohorts of healthy and diarrheal children will be needed to evaluate their clinical role in AGE

Separation principle for a sampled bilinear system

International audienceThis work is a continuation of [2] and [1] in which the authors studied the preservation of the observability and observer under sampling. In this paper, by relaxing some hypotheses, we study the observability and stabilization problems for a sampled bilinear system. We give a characterization of the observability for such systems. Moreover, under some sufficient conditions, we show that the sampled of the bilinear system can be globally asymptotically stabilizable using a state observer

Partial KCNQ1OT1 hypomethylation: A disguised familial Beckwith–Wiedemann syndrome as a sporadic adrenocortical tumor

Beckwith–Wiedemann syndrome has a wide spectrum of complications such as embryonal tumors, namely adrenocortical tumor. Tumor predisposition is one of the most challenging manifestations of this syndrome. A 45-day old female with a family history of adrenocortical tumor presented with adrenocortical tumor. The case raised suspicion of a hereditary Beckwith–Wiedemann syndrome, therefore molecular analysis was undertaken. The results revealed partial KCNQ1OT1 hypomethylation in the infant's blood DNA which was associated with a complete loss of methylation in the infant's adrenocortical tumor tissue. It is unique for familial Beckwith–Wiedemann syndrome caused by KCNQ1OT1 partial hypomethylation to manifest solely through adrenocortical tumor. Incomplete penetrance and specific tissue mosaicism could provide explanations to this novel hereditary Beckwith–Wiedemann syndrome presentation

Demographic characteristic and detected enteric viruses in patients with cosavirus, salivirus or bufavirus infections.

<p>Demographic characteristic and detected enteric viruses in patients with cosavirus, salivirus or bufavirus infections.</p

Phylogenetic trees of bufaviruses detected in diarrheal Tunisian children.

<p><b>A.</b> VP2 region of bufavirus (1710 nt); <b>B.</b> NS1 region of bufavirus (441 nt) Phylogenetic trees were inferred using the Maximum Likelihood method based on the Tamura-3-parameter nucleotide substitution model with a discrete gamma distribution. Bootstraps values were calculated from 1000 replicates. Strains of this study are shown in green. Genotypes are shown in bold.</p

Oligonucleotides used for detection and genotyping of cosavirus, salivirus and bufavirus in this study.

<p>Oligonucleotides used for detection and genotyping of cosavirus, salivirus and bufavirus in this study.</p

Phylogenetic trees of saliviruses detected in diarrheal Tunisian children.

<p><b>A.</b> VP0 region of salivirus (815 nt); <b>B.</b> 2CHel region of salivirus (275 nt); <b>C.</b> 3Dpol region of (686 nt); Phylogenetic trees were inferred using the Maximum Likelihood method based on the Tamura-3-parameter nucleotide substitution model with a discrete gamma distribution. Bootstraps values were calculated from 1000 replicates. Strains of this study are shown in blue. Genotypes are shown in bold.</p

Phylogenetic trees of cosaviruses detected in diarrheal Tunisian children.

<p><b>A.</b> VP1 region of cosavirus (904 nt); <b>B.</b> 3Dpol region of cosavirus (400 nt). Phylogenetic trees were inferred using the Maximum Likelihood method based on the Tamura-3-parameter nucleotide substitution model with a discrete gamma distribution. Bootstraps values were calculated from 1000 replicates. Strains of this study are shown in red. Genotypes are shown in bold.</p