Claire Bahans

Moving from bag to catheter for urine collection in non-toilet-trained children suspected of having urinary tract infection: a paired comparison of urine cultures.

OBJECTIVE To compare, in the same children, urine culture results from bag- versus catheter-obtained specimens with catheter culture as the reference. STUDY DESIGN A total of 192 non-toilet-trained children <3 years of age from 2 emergency departments were recruited for this prospective cross-sectional study. All had positive urinalysis results from bag-obtained specimens that were systematically checked with a catheter-obtained specimen before treatment. Results of comparison of urine cultures obtained with these 2 collecting methods are presented. RESULTS A total of 7.5% of bag-obtained specimen positive cultures had false-positive results. Twenty-nine percent of bag-obtained specimen cultures with negative results were false negative. Altogether, bag-obtained specimens led to either a misdiagnosis or an impossible diagnosis in 40% of cases versus 5.7% when urethral catheterization was used. CONCLUSION Every bag-obtained positive-result urinalysis should be confirmed with a more reliable method before therapy.

Dramatic diminution of a large calcification treated with topical sodium thiosulfate.

Subcutaneous calcifications complicate various diseases, and their treatments are challenging. Several studies have recently demonstrated the potential of sodium thiosulfate (STS) in the treatment of ectopic calcifications. STS has generally been administered intravenously, and potential systemic adverse effects are still a concern. A 12-year-old boy with familial tumoral calcinosis syndrome due to GALNT3 mutation recently presented to us with a large subcutaneous calcification on the posterior surface of the left elbow, which had developed over the 4 previous months (A). The overlying skin was normal, but mobility of the elbow was reduced. Physical examination and technetium scintigraphy revealed no other ectopic calcifications. Given the patient’s functional impairment and the potential limits of surgical treatment, percutaneous treatment with STS was initiated. The preparation was made of STS dispersed in Galen’s cerate (10/90 [weight/weight]). The patient applied 1.5 gm of the treatment locally every evening for 6 months. During this period, he noticed progressive waning of the mass and no skin modification or discharge. Radiography confirmed the improvement (B). Neither local nor systemic adverse effects were reported or seen. Local application of STS could be an interesting alternative to systemic administration, with fewer adverse effects. Two cases of successful treatment of dystrophic microscopic calcifications with cutaneous STS have been described (1,2). Unlike these previous cases, our patient presented with an ectopic calcification with no skin lesions, and no other treatment was received. The initial size of the calcification, the dramatic improvement, and the good evolution during such a short period of time lead us to believe this outcome could hardly be spontaneous. A prospective trial will be conducted to confirm this promising preliminary result.

Topical Sodium Thiosulfate: A Treatment for Calcifications in Hyperphosphatemic Familial Tumoral Calcinosis?

CONTEXT Hyperphosphatemic familial tumoral calcinosis (HFTC) and hyperphosphatemia hyperostosis syndrome (HHS) are rare diseases characterized by hyperphosphatemia and ectopic calcifications or recurrent episodes of diaphysitis. In the setting of metabolic or inflammatory diseases, recent data suggest that systemic administration of sodium thiosulfate (STS) could be effective in the treatment of ectopic calcifications but may also be poorly tolerated (digestive symptoms, metabolic acidosis). Our group developed a topical formulation of STS to treat ectopic calcifications locally, therefore limiting patient exposure to the drug and its adverse effects. OBJECTIVE We aimed at describing efficacy and tolerance for a topical formulation of STS in treated patients. DESIGN We performed a retrospective study wherein clinical, radiological, and biological data before and after the application of the topical STS treatment were collected and analyzed. PATIENTS OR OTHER PARTICIPANTS Three patients admitted to 3 different hospitals with an ectopic calcification secondary to HFTC or HHS were treated with topical STS. INTERVENTION The topical STS was applied daily by the patients. RESULTS A significant clinical and radiological decrease of ectopic calcifications was observed after at least 5 months of treatment. The STS treatment was well tolerated and no clinical or biological side effects were observed. CONCLUSION Topical STS appears to be a promising treatment for ectopic calcifications secondary to HFTC or HHS.

Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome

Objective 17q12 microdeletion syndrome involves 15 genes, including HNF1B, and is considered to confer a high risk of neuropsychiatric disorders. Patients with HNF1B gene deletion diagnosed secondary to renal disorders are only very rarely reported to have neuropsychiatric disorders. Interestingly, however, when tested, patients with HNF1B gene deletion are found to have 17q12 deletion. This brings into question the extent to which 17q12 deletion is genuinely associated with severe neuropsychological disorders and in which patients. In this study, we sought to confirm 17q12 microdeletion in kidney patients initially diagnosed with HNF1B gene deletion and evaluate neuropsychological disorders in these patients compared with those with HNF1B point mutation. Patients and design Thirty-nine children with HNF1B disorders (26 with deletions) diagnosed secondary to renal abnormalities were included in this prospective study and tested for 17q12 microdeletion and neuropsychological disorders. Results The same 17q12 microdeletion found in patients with neuropsychological disorders was identified in all of our patients with HNF1B deletion. Neurological examinations found no severe impairments except for one patient with autism. No significant differences were found between patients with deletions and those with point mutations as concerns learning abilities and schooling. Nevertheless, patients with deletions tended to have lower developmental quotients and more difficulties at school. Conclusions Complete deletion of the HNF1B gene and 17q12 microdeletion syndrome are actually the same genetic disorder. The neuropsychological phenotype of patients appears less severe when 17q12 deletion is diagnosed secondary to kidney rather than neuropsychological abnormalities. These data may influence antenatal counselling.

Treatment of heterotopic ossifications secondary to pseudohypoparathyroid.

Vincent Guigonis a,∗,b, Claire Bahans a,b, Korng Ea c, Emmanuelle Bourrat d, Anne Lienhardt a,b, Olivier Chabre e, Jeremy Jost f, Hadile Mutar a, Voa Ratsimbazafy f, Agnès Linglart g a Pédiatrie, CHU de Limoges, Limoges, France b CHREC, CHU de Limoges, Limoges, France c Rhumatologie, Lariboisière, AP–HP, Paris, France d Dermatologie, Robert-Debré, AP–HP, Paris, France e Endocrinologie, CHU de Grenoble, Grenoble, France f Pharmacie, CHU de Limoges, Limoges, France g Endocrinologie pédiatrique, Bicêtre, AP–HP, Le Kremlin-Bicêtre, France

Antibiotic Resistance Acquisition in the First Week of Life

Objectives: The fetus is considered sterile but recent studies have suggested that gut colonization could start before birth. Scarce data are available for the acquisition of resistant Gram-negative bacteria (GNB) during the first days of life. Several studies have shown that integrons play a major role in antibiotic resistance acquisition. In this work, we studied the dynamics of human intestinal acquisition of GNB and integrons during the first days of life. Methods: Meconium was collected at birth and a stool sample before hospital discharge (days 2 or 3) on 185 term neonates. GNB were searched by culture on each sample and class 1, 2, and 3 integrons from each GNB or directly from samples. Eight risk factors for integron and GNB acquisition were studied. Results: We isolated 228 GNB, 46 from meconium and the remainder from stools. No link was found between GNB isolation and antibiotic exposure during delivery, but antibiotic exposure during labor significantly selected blaTEM-positive amoxicillin-resistant Enterobacteria. Two-thirds of GNB were antibiotic-susceptible and most of the resistant isolates were acquired after birth. Integrons were detected in 18 of the 228 GNB isolates from 3 meconium and 20 stools. Antibiotic administration during delivery and vaginal carriage of Streptococcus agalactiae appeared as risk factors for integron acquisition. Conclusion: Gram-negative bacteria and integrons are mostly acquired after birth during the first days of life even if for some term neonates, meconium was not sterile. Antibiotic administration during delivery is a major risk for integron acquisition and for selection of amoxicillin-resistant Enterobacteria.