Thricho-rhino-phalangeal syndrome and severe osteoporosis: a rare association or a feature? An effective therapeutic approach with biphosphonates.

Trichorhinophalangeal syndrome (TRPS) is a rare, autosomal dominant malformation syndrome characterized by hair, craniofacial and skeletal abnormalities, skin laxity, deformation of phalanges and anomalies of pelvis, femurs, and tibias. Three subtypes have been described: TRPS I, caused by mutations in TRPS1 gene on chromosome 8; TRPS II, a microdeletion syndrome affecting the TRPS1 and EXT1 genes; and TRPS III, a form with severe brachydactyly, due to short metacarpals, and severe short stature, but without exostoses. We present the case of a 7-year-old boy, affected by TRPS with a severe osteoporosis and several spontaneous bone fractures, an association described only once in the literature, successfully treated with biphosphonates. Bone mineral density (BMD) at dual-energy X-ray Absorptiometry (DXA) was of 0.331 g/cm(2) at lumbar spine with. He had four spontaneous femoral fractures in a year, and for this reason he was been operated for positioning intramedullary osteosynthesis and orthopedic supports. Due to the severity of the clinical and radiological pattern it was established, after approval of the Ethical Committee, to begin off-label therapy with infusions of neridronate at a dose of 2 mg/kg IV every 3 months. The treatment was, in this patient, effective both in terms of clinical (absence of new fractures) and mineralomethric (+45% BMD ath the lumbar level). We therefore suggest that treatment with biphosponates can be taken in account as a possible therapeutic option in case of bone fragility in patients with TRPSI.

Coinfection in acute gastroenteritis predicts a more severe clinical course in children.

The objectives of this study were to determine the incidence of enteric pathogens causing acute gastroenteritis (AGE) among hospitalized children in a large Italian hospital, to measure the incidence of coinfections, and to compare the clinical characteristics of those infected with one versus multiple agents. A prospective study was conducted from March 2010 to April 2011 at the Bambino Gesù Pediatric Hospital in Rome, Italy. All patients between 1 month and 16 years of age admitted to the Pediatric Department with a diagnosis of AGE were eligible for enrollment. Two stool samples for each patient were tested for gastrointestinal pathogens. We summarized the clinical severity of episodes, describing the duration of diarrhea, duration and frequency of vomiting, fever, and severity of dehydration. All the patients underwent medical evaluation with estimation of dehydration. One or more etiological agents were detected in 151 out of 232 patients (65.1%), while we did not detect any etiological agent in 81 (34.9%). Rotavirus was detected in 96 (63.6%), adenovirus in 17 (11.2%), norovirus in 7 (4.6%), toxin-producing Clostridium difficile in 23 (15.2%), Salmonella spp. in 15 (9.9%, B group in 12/15 and D group in 3/15), C. perfringens in 12 (7.9%), Campylobacter spp. in 6 (4%), and verotoxigenic Escherichia coli (VTEC) in 2 (1.3%). In 27 children out of 151 (17.9%), we found evidence of coinfection. Coinfection with rotavirus and toxin-producing C. difficile was the most common (63%). Children with coinfection had a more severe clinical presentation and had a higher probability to be severely dehydrated, independently of age and living community type.

Role of radiography and ultrasonography in the diagnosis of the pediatric gastro-esophageal reflux disease.

Twenty-four hour esophageal pH-monitoring is gold standard for evaluate pathological GERD. Role of radiography and ultrasonography in the diagnosis of gastro-esophageal reflux disease (GERD) has been studied. Our results have been shown that radiography and ultrasonography have a limited role in the diagnosis of pathological GERD. However, such investigations an useful the follow-up of patients affected by pathological GERD.

(-) mating type-specific mutants of Phycomyces defective in sex pheromone biosynthesis.

We have isolated the first mating type-specific mutants in mucoraceous fungi. Both mutants in Phycomyces blakesleeanus appear to be defective in the same gene. The gene, present in both mating types, is necessary only in cultures of the (-) mating type. The gene codes for an enzyme in sex pheromone biosynthesis. The pheromone precursor made by the mutants is detectable only in cross-feeding experiments. The biological and solubility properties of the precursor suggest the precursor is 4-dihydrotrisporin, a metabolite of beta-carotene. Separate studies with beta-carotene-deficient mutants and Compound-P, a new chemically synthesized precursor of the pheromones, imply the constitutive level of enzymes for pheromone biosynthesis in Phycomyces is extremely low. In comparison, the level of enzymes for pheromone conversion to trisporic acid is higher. The mating type-specific mutants also catalyze the conversion of (+) pheromone to trisporic acid. This finding was unexpected because literature models predicted this reaction was catalyzed by the same enzyme which catalyzed the conversion of 4-dihydrotrisporin to (-) pheromone-a reaction missing in the (-) mating type-specific mutants. Thus, we propose a revised model for trisporic acid biosynthesis.

[Expression of growth dynamic in the structure of periosteal bone in Anas platyrhynchos]. / Expression de la dynamique de croissance dans la structure de l'os périostique chez Anas platyrhynchos.

An experimental study of the periosteal bone growth in the mallard from 42 to 154 post hatching days shows: (1) a noticeable time difference in the local biological age of the diaphyseal cortices between various long bones; (2) great differences in their histological structures, at a given individual age, expressing commensurate differences in local growth rates. Those results emphasize the importance of local factors to interpret the typology of the primary (periosteal) bone tissues. Experimental results allow to quantify the relationships between bone tissue typology and the velocity of its radial deposition.