Clinical and biochemical response to neridronate treatment in a patient with osteoporosis-pseudoglioma syndrome (OPPG)

Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal recessive syndrome characterized by juvenile-onset osteoporosis and ocular abnormalities due to a low-density lipoprotein receptor-related protein 5 (LRP5) gene mutation. Treatment with bisphosphonates, particularly with pamidronate and risedronate, has been reported to be of some efficacy in this condition. We report on a patient with OPPG due to an LRP5 gene mutation, who showed an encouraging response after a 36-month period of neridronate therapy. We report a case of a patient treated with bisphosphonates. Bisphosphonates should be administered in OPPG patients as a first-line therapy during early childhood

Impaired Carbohydrate Digestion and Transport and Mucosal Dysbiosis in the Intestines of Children with Autism and Gastrointestinal Disturbances

Gastrointestinal disturbances are commonly reported in children with autism, complicate clinical management, and may contribute to behavioral impairment. Reports of deficiencies in disaccharidase enzymatic activity and of beneficial responses to probiotic and dietary therapies led us to survey gene expression and the mucoepithelial microbiota in intestinal biopsies from children with autism and gastrointestinal disease and children with gastrointestinal disease alone. Ileal transcripts encoding disaccharidases and hexose transporters were deficient in children with autism, indicating impairment of the primary pathway for carbohydrate digestion and transport in enterocytes. Deficient expression of these enzymes and transporters was associated with expression of the intestinal transcription factor, CDX2. Metagenomic analysis of intestinal bacteria revealed compositional dysbiosis manifest as decreases in Bacteroidetes, increases in the ratio of Firmicutes to Bacteroidetes, and increases in Betaproteobacteria. Expression levels of disaccharidases and transporters were associated with the abundance of affected bacterial phylotypes. These results indicate a relationship between human intestinal gene expression and bacterial community structure and may provide insights into the pathophysiology of gastrointestinal disturbances in children with autism

Amoxycillin and Clavulanic Acid in the Treatment of Urinary Tract Infections in Children

The efficacy of amoxicillin–clavulanic acid combination in the treatment of urinary tract infections resistant, in vitro, to amoxycillin was studied in 42 children. Of the 24 children with urinary tract infection for the first time, combination therapy, dosing twice daily for 5 days (40 mg/kg·day), cleared the infection in 23 (96%) cases. Relapse occurred in four (17%) cases within 30 days. Of the 18 children who presented with recurrent urinary tract infections therapy, as above, cleared the infection in 16 (89%) cases. In these cases, long-term therapy was performed at a dosage of 20 mg/kg once daily. Tolerance was good; gastro-intestinal disorders in five (12%) cases which regressed by dosing at 8 h rather than 12 h intervals. In conclusion, amoxycillin–clavulanic acid can be considered a first choice treatment of urinary tract infections in children. </jats:p